Search results for: genetic disorders
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2716

Search results for: genetic disorders

256 Microfluidic Plasmonic Bio-Sensing of Exosomes by Using a Gold Nano-Island Platform

Authors: Srinivas Bathini, Duraichelvan Raju, Simona Badilescu, Muthukumaran Packirisamy

Abstract:

A bio-sensing method, based on the plasmonic property of gold nano-islands, has been developed for detection of exosomes in a clinical setting. The position of the gold plasmon band in the UV-Visible spectrum depends on the size and shape of gold nanoparticles as well as on the surrounding environment. By adsorbing various chemical entities, or binding them, the gold plasmon band will shift toward longer wavelengths and the shift is proportional to the concentration. Exosomes transport cargoes of molecules and genetic materials to proximal and distal cells. Presently, the standard method for their isolation and quantification from body fluids is by ultracentrifugation, not a practical method to be implemented in a clinical setting. Thus, a versatile and cutting-edge platform is required to selectively detect and isolate exosomes for further analysis at clinical level. The new sensing protocol, instead of antibodies, makes use of a specially synthesized polypeptide (Vn96), to capture and quantify the exosomes from different media, by binding the heat shock proteins from exosomes. The protocol has been established and optimized by using a glass substrate, in order to facilitate the next stage, namely the transfer of the protocol to a microfluidic environment. After each step of the protocol, the UV-Vis spectrum was recorded and the position of gold Localized Surface Plasmon Resonance (LSPR) band was measured. The sensing process was modelled, taking into account the characteristics of the nano-island structure, prepared by thermal convection and annealing. The optimal molar ratios of the most important chemical entities, involved in the detection of exosomes were calculated as well. Indeed, it was found that the results of the sensing process depend on the two major steps: the molar ratios of streptavidin to biotin-PEG-Vn96 and, the final step, the capture of exosomes by the biotin-PEG-Vn96 complex. The microfluidic device designed for sensing of exosomes consists of a glass substrate, sealed by a PDMS layer that contains the channel and a collecting chamber. In the device, the solutions of linker, cross-linker, etc., are pumped over the gold nano-islands and an Ocean Optics spectrometer is used to measure the position of the Au plasmon band at each step of the sensing. The experiments have shown that the shift of the Au LSPR band is proportional to the concentration of exosomes and, thereby, exosomes can be accurately quantified. An important advantage of the method is the ability to discriminate between exosomes having different origins.

Keywords: exosomes, gold nano-islands, microfluidics, plasmonic biosensing

Procedia PDF Downloads 148
255 Raman Tweezers Spectroscopy Study of Size Dependent Silver Nanoparticles Toxicity on Erythrocytes

Authors: Surekha Barkur, Aseefhali Bankapur, Santhosh Chidangil

Abstract:

Raman Tweezers technique has become prevalent in single cell studies. This technique combines Raman spectroscopy which gives information about molecular vibrations, with optical tweezers which use a tightly focused laser beam for trapping the single cells. Thus Raman Tweezers enabled researchers analyze single cells and explore different applications. The applications of Raman Tweezers include studying blood cells, monitoring blood-related disorders, silver nanoparticle-induced stress, etc. There is increased interest in the toxic effect of nanoparticles with an increase in the various applications of nanoparticles. The interaction of these nanoparticles with the cells may vary with their size. We have studied the effect of silver nanoparticles of sizes 10nm, 40nm, and 100nm on erythrocytes using Raman Tweezers technique. Our aim was to investigate the size dependence of the nanoparticle effect on RBCs. We used 785nm laser (Starbright Diode Laser, Torsana Laser Tech, Denmark) for both trapping and Raman spectroscopic studies. 100 x oil immersion objectives with high numerical aperture (NA 1.3) is used to focus the laser beam into a sample cell. The back-scattered light is collected using the same microscope objective and focused into the spectrometer (Horiba Jobin Vyon iHR320 with 1200grooves/mm grating blazed at 750nm). Liquid nitrogen cooled CCD (Symphony CCD-1024x256-OPEN-1LS) was used for signal detection. Blood was drawn from healthy volunteers in vacutainer tubes and centrifuged to separate the blood components. 1.5 ml of silver nanoparticles was washed twice with distilled water leaving 0.1 ml silver nanoparticles in the bottom of the vial. The concentration of silver nanoparticles is 0.02mg/ml so the 0.03mg of nanoparticles will be present in the 0.1 ml nanoparticles obtained. The 25 ul of RBCs were diluted in 2 ml of PBS solution and then treated with 50 ul (0.015mg) of nanoparticles and incubated in CO2 incubator. Raman spectroscopic measurements were done after 24 hours and 48 hours of incubation. All the spectra were recorded with 10mW laser power (785nm diode laser), 60s of accumulation time and 2 accumulations. Major changes were observed in the peaks 565 cm-1, 1211 cm-1, 1224 cm-1, 1371 cm-1, 1638 cm-1. A decrease in intensity of 565 cm-1, increase in 1211 cm-1 with a reduction in 1224 cm-1, increase in intensity of 1371 cm-1 also peak disappearing at 1635 cm-1 indicates deoxygenation of hemoglobin. Nanoparticles with higher size were showing maximum spectral changes. Lesser changes observed in case of 10nm nanoparticle-treated erythrocyte spectra.

Keywords: erythrocytes, nanoparticle-induced toxicity, Raman tweezers, silver nanoparticles

Procedia PDF Downloads 270
254 Evaluation of Regional Anaesthesia Practice in Plastic Surgery: A Retrospective Cross-Sectional Study

Authors: Samar Mousa, Ryan Kerstein, Mohanad Adam

Abstract:

Regional anaesthesia has been associated with favourable outcomes in patients undergoing a wide range of surgeries. Beneficial effects have been demonstrated in terms of postoperative respiratory and cardiovascular endpoints, 7-day survival, time to ambulation and hospital discharge, and postoperative analgesia. Our project aimed at assessing the regional anaesthesia practice in the plastic surgery department of Buckinghamshire trust and finding out ways to improve the service in collaboration with the anaesthesia team. It is a retrospective study associated with a questionnaire filled out by plastic surgeons and anaesthetists to get the full picture behind the numbers. The study period was between 1/3/2022 and 23/5/2022 (12 weeks). The operative notes of all patients who had an operation under plastic surgery, whether emergency or elective, were reviewed. The criteria of suitable candidates for the regional block were put by the consultant anaesthetists as follows: age above 16, single surgical site (arm, forearm, leg, foot), no drug allergy, no pre-existing neuropathy, no bleeding disorders, not on ant-coagulation, no infection to the site of the block. For 12 weeks, 1061 operations were performed by plastic surgeons. Local cases were excluded leaving 319 cases. Of the 319, 102 patients were suitable candidates for regional block after applying the previously mentioned criteria. However, only seven patients had their operations under the regional block, and the rest had general anaesthesia that could have been easily avoided. An online questionnaire was filled out by both plastic surgeons and anaesthetists of different training levels to find out the reasons behind the obvious preference for general over regional anaesthesia, even if this was against the patients’ interest. The questionnaire included the following points: training level, time taken to give GA or RA, factors that influence the decision, percentage of RA candidates that had GA, reasons behind this percentage, recommendations. Forty-four clinicians filled out the questionnaire, among which were 23 plastic surgeons and 21 anaesthetists. As regards the training level, there were 21 consultants, 4 associate specialists, 9 registrars, and 10 senior house officers. The actual percentage of patients who were good candidates for RA but had GA instead is 93%. The replies estimated this percentage as between 10-30%. 29% of the respondents thought that this percentage is because of surgeons’ preference to have GA rather than RA for their operations without medical support for the decision. 37% of the replies thought that anaesthetists prefer giving GA even if the patient is a suitable candidate for RA. 22.6% of the replies thought that patients refused to have RA, and 11.3% had other causes. The recommendations were in 5 main accesses, which are protocols and pathways for regional blocks, more training opportunities for anaesthetists on regional blocks, providing a separate block room in the hospital, better communication between surgeons and anaesthetists, patient education about the benefits of regional blocks.

Keywords: regional anaesthesia, regional block, plastic surgery, general anaesthesia

Procedia PDF Downloads 64
253 Safety of Implementation the Gluten - Free Diet in Children with Autism Spectrum Disorder

Authors: J. Jessa

Abstract:

Background: Autism is a pervasive developmental disorder, the incidence of which has significantly increased in recent years. Children with autism have impairments in social skills, communication, and imagination. Children with autism has more common than healthy children feeding problems: food selectivity, problems with gastrointestinal tract: diarrhea, constipations, abdominal pain, reflux and others. Many parents of autistic children report that after implementation of gluten-, casein- and sugar free diet those symptoms disappear and even cognitive functions become better. Some children begin to understand speech and to communicate with parents, regain eye contact, become more calm, sleep better and has better concentration. Probably at the root of this phenomenon lies elimination from the diet peptides construction of which is similar to opiates. Enhanced permeability of gut causes absorption of not fully digested opioid-like peptides from food, like gluten and casein and probably others (proteins from soy and corn) which impact on brain of autistic children. Aim of the study: The aim of the study is to assess the safety of gluten-free diet in children with autism, aged 2,5-7. Methods: Participants of the study (n=70) – children aged 2,5-7 with autism are divided into 3 groups. The first group (research group) are patients whose parents want to implement a gluten-free diet. The second group are patients who have been recommended to eliminate from the diet artificial substances, such as preservatives, artificial colors and flavors, and others (control group 1). The third group (control group 2) are children whose parents did not agree for implementation of the diet. Caregivers of children on the diet are educated about the specifics of the diet and how to avoid malnutrition. At the start of the study we exclude celiac disease. Before the implementation of the diet we performe a blood test for patients (morphology, ferritin, total cholesterol, dry peripheral blood drops to detect some genetic metabolic diseases), plasma aminogram) and urine tests (excretion of ions: Mg, Na, Ca, the profile of organic acids in urine), which assess nutritional status as well as the psychological test assessing the degree of the child's psychological functioning (PEP-R). All of these tests will be repeated after one year from the implementation of the diet. Results: To the present moment we examined 42 children with autism. 12 of children are on gluten- free diet. Our preliminary results are promising. Parents of 9 of them report that, there is a big improvement in child behavior, concentration, less aggression incidents, better eye contact and better verbal skills. Conclusion: Our preliminary results suggest that dietary intervention may positively affect developmental outcome for some children diagnosed with ASD.

Keywords: gluten free diet, autism spectrum disorder, autism, blood test

Procedia PDF Downloads 303
252 Role of Platelet Volume Indices in Diabetes Related Vascular Angiopathies

Authors: Mitakshara Sharma, S. K. Nema, Sanjeev Narang

Abstract:

Diabetes mellitus (DM) is a group of metabolic disorders characterized by metabolic abnormalities, chronic hyperglycaemia and long term macrovascular & microvascular complications. Vascular complications are due to platelet hyperactivity and dysfunction, increased inflammation, altered coagulation and endothelial dysfunction. Large proportion of patients with Type II DM suffers from preventable vascular angiopathies, and there is need to develop risk factor modifications and interventions to reduce impact of complications. These complications are attributed to platelet activation, recognised by increase in Platelet Volume Indices (PVI) including Mean Platelet Volume (MPV) and Platelet Distribution Width (PDW). The current study is prospective analytical study conducted over 2 years. Out of 1100 individuals, 930 individuals fulfilled inclusion criteria and were segregated into three groups on basis of glycosylated haemoglobin (HbA1C): - (a) Diabetic, (b) Non-Diabetic and (c) Subjects with Impaired fasting glucose (IFG) with 300 individuals in IFG and non-diabetic groups & 330 individuals in diabetic group. Further, diabetic group was divided into two groups on the basis of presence or absence of known diabetes related vascular complications. Samples for HbA1c and PVI were collected using Ethylene diamine tetraacetic acid (EDTA) as anticoagulant and processed on SYSMEX-X-800i autoanalyser. The study revealed gradual increase in PVI from non-diabetics to IFG to diabetics. PVI were markedly increased in diabetic patients. MPV and PDW of diabetics, IFG and non diabetics were (17.60 ± 2.04)fl, (11.76 ± 0.73)fl, (9.93 ± 0.64)fl and (19.17 ± 1.48)fl, (15.49 ± 0.67)fl, (10.59 ± 0.67)fl respectively with a significant p value 0.00 and a significant positive correlation (MPV-HbA1c r = 0.951; PDW-HbA1c r = 0.875). MPV & PDW of subjects with diabetes related complications were higher as compared to those without them and were (17.51±0.39)fl & (15.14 ± 1.04)fl and (20.09 ± 0.98) fl & (18.96 ± 0.83)fl respectively with a significant p value 0.00. There was a significant positive correlation between PVI and duration of diabetes across the groups (MPV-HbA1c r = 0.951; PDW-HbA1c r = 0.875). However, a significant negative correlation was found between glycaemic levels and total platelet count (PC- HbA1c r =-0.164). This is multi-parameter and comprehensive study with an adequately powered study design. It can be concluded from our study that PVI are extremely useful and important indicators of impending vascular complications in all patients with deranged glycaemic control. Introduction of automated cell counters has facilitated the availability of PVI as routine parameters. PVI is a useful means for identifying larger & active platelets which play important role in development of micro and macro angiopathic complications of diabetes leading to mortality and morbidity. PVI can be used as cost effective markers to predict and prevent impending vascular events in patients with Diabetes mellitus especially in developing countries like India. PVI, if incorporated into protocols for management of diabetes, could revolutionize care and curtail the ever increasing cost of patient management.

Keywords: diabetes, IFG, HbA1C, MPV, PDW, PVI

Procedia PDF Downloads 233
251 Effects of Sexual Activities in Male Athletes Performance

Authors: Andreas Aceranti, Simonetta Vernocchi, Marco Colorato, Massimo Briamo, Giovanni Abalsamo

Abstract:

Most of the benefits of sport come from related physical activity, however, there are secondary psychological positive effects. There are also obvious disadvantages, high tensions related to failure, injuries, eating disorders and burnout. Depressive symptoms and illnesses related to anxiety or stress can be preventable or even simply alleviated through regular activity and exercise. It has been shown that the practice of a sport brings physical benefits, but can also have psychological and spiritual benefits. Reduced performance in male individuals has been linked to sexual activity before competitions in the past. The long-standing debate about the impact of sexual activity on sports performance has been controversial in the mainstream media in recent decades. This salacious topic has generated extensive discussion, although its high-quality data has been limited. Literature has, so far, mainly included subjective assessments from surveys. However, such surveys can be skewed as these assessments are based on individual beliefs, perceptions, and memory. There has been a long discussion over the years but even there objective data has been lacking. One reason behind coaches' bans on sexual activity before sporting events may be the belief that abstinence increases frustration, which in turn is shifted into aggressive behavior toward competitors. However, this assumption is not always valid. In fact, depriving an athlete of a normal activity can cause feelings of guilt and loss of concentration. Sexual activity during training can promote relaxation and positively influence performance. The author concludes that, although there is a need for scientific research in this area, it seems that sexual intercourse does not decrease performance unless it is accompanied by late night socialization, loss of sleep or drinking. Although the effects of sexual engagement on aerobic and strength athletic performance have not been definitively established, most research seems to rule out a direct impact. In order to analyze, as much as possible without bias, whether sexual activity significantly affects an athletic performance or not, we sampled 5 amateur athletes, between 22 and 25 years old and all male. The study was based on the timing of 4 running races of 5 champions. We asked participants to respect guidelines to avoid sexual activity (sex or masturbation) 12 hours before 2 of the 4 competitions, and to practice before the remaining 2 races.In doing so, we were able to compare and analyze the impact of activity and abstinence on performance results. We have come to the conclusion that sexual behavior on athletic performance needs to be better understood, more randomized trials and high-quality controls are strongly needed but available information suggests that sexual activity the day before a race has no negative effects on performance.

Keywords: sex, masturbation, male performance, soccer

Procedia PDF Downloads 45
250 Rehabilitation Team after Brain Damages as Complex System Integrating Consciousness

Authors: Olga Maksakova

Abstract:

A work with unconscious patients after acute brain damages besides special knowledge and practical skills of all the participants requires a very specific organization. A lot of said about team approach in neurorehabilitation, usually as for outpatient mode. Rehabilitologists deal with fixed patient problems or deficits (motion, speech, cognitive or emotional disorder). Team-building means superficial paradigm of management psychology. Linear mode of teamwork fits casual relationships there. Cases with deep altered states of consciousness (vegetative states, coma, and confusion) require non-linear mode of teamwork: recovery of consciousness might not be the goal due to phenomenon uncertainty. Rehabilitation team as Semi-open Complex System includes the patient as a part. Patient's response pattern becomes formed not only with brain deficits but questions-stimuli, context, and inquiring person. Teamwork is sourcing of phenomenology knowledge of patient's processes as Third-person approach is replaced with Second- and after First-person approaches. Here is a chance for real-time change. Patient’s contacts with his own body and outward things create a basement for restoration of consciousness. The most important condition is systematic feedbacks to any minimal movement or vegetative signal of the patient. Up to now, recovery work with the most severe contingent is carried out in the mode of passive physical interventions, while an effective rehabilitation team should include specially trained psychologists and psychotherapists. It is they who are able to create a network of feedbacks with the patient and inter-professional ones building up the team. Characteristics of ‘Team-Patient’ system (TPS) are energy, entropy, and complexity. Impairment of consciousness as the absence of linear contact appears together with a loss of essential functions (low energy), vegetative-visceral fits (excessive energy and low order), motor agitation (excessive energy and excessive order), etc. Techniques of teamwork are different in these cases for resulting optimization of the system condition. Directed regulation of the system complexity is one of the recovery tools. Different signs of awareness appear as a result of system self-organization. Joint meetings are an important part of teamwork. Regular or event-related discussions form the language of inter-professional communication, as well as the patient's shared mental model. Analysis of complex communication process in TPS may be useful for creation of the general theory of consciousness.

Keywords: rehabilitation team, urgent rehabilitation, severe brain damage, consciousness disorders, complex system theory

Procedia PDF Downloads 121
249 Investigating the Essentiality of Oxazolidinones in Resistance-Proof Drug Combinations in Mycobacterium tuberculosis Selected under in vitro Conditions

Authors: Gail Louw, Helena Boshoff, Taeksun Song, Clifton Barry

Abstract:

Drug resistance in Mycobacterium tuberculosis is primarily attributed to mutations in target genes. These mutations incur a fitness cost and result in bacterial generations that are less fit, which subsequently acquire compensatory mutations to restore fitness. We hypothesize that mutations in specific drug target genes influence bacterial metabolism and cellular function, which affects its ability to develop subsequent resistance to additional agents. We aim to determine whether the sequential acquisition of drug resistance and specific mutations in a well-defined clinical M. tuberculosis strain promotes or limits the development of additional resistance. In vitro mutants resistant to pretomanid, linezolid, moxifloxacin, rifampicin and kanamycin were generated from a pan-susceptible clinical strain from the Beijing lineage. The resistant phenotypes to the anti-TB agents were confirmed by the broth microdilution assay and genetic mutations were identified by targeted gene sequencing. Growth of mono-resistant mutants was done in enriched medium for 14 days to assess in vitro fitness. Double resistant mutants were generated against anti-TB drug combinations at concentrations 5x and 10x the minimum inhibitory concentration. Subsequently, mutation frequencies for these anti-TB drugs in the different mono-resistant backgrounds were determined. The initial level of resistance and the mutation frequencies observed for the mono-resistant mutants were comparable to those previously reported. Targeted gene sequencing revealed the presence of known and clinically relevant mutations in the mutants resistant to linezolid, rifampicin, kanamycin and moxifloxacin. Significant growth defects were observed for mutants grown under in vitro conditions compared to the sensitive progenitor. Mutation frequencies determination in the mono-resistant mutants revealed a significant increase in mutation frequency against rifampicin and kanamycin, but a significant decrease in mutation frequency against linezolid and sutezolid. This suggests that these mono-resistant mutants are more prone to develop resistance to rifampicin and kanamycin, but less prone to develop resistance against linezolid and sutezolid. Even though kanamycin and linezolid both inhibit protein synthesis, these compounds target different subunits of the ribosome, thereby leading to different outcomes in terms of fitness in the mutants with impaired cellular function. These observations showed that oxazolidinone treatment is instrumental in limiting the development of multi-drug resistance in M. tuberculosis in vitro.

Keywords: oxazolidinones, mutations, resistance, tuberculosis

Procedia PDF Downloads 135
248 Socioeconomic Burden of Life Long Disease: A Case of Diabetes Care in Bangladesh

Authors: Samira Humaira Habib

Abstract:

Diabetes has profound effects on individuals and their families. If diabetes is not well monitored and managed, then it leads to long-term complications and a large and growing cost to the health care system. Prevalence and socioeconomic burden of diabetes and relative return of investment for the elimination or the reduction of the burden are much more important regarding its cost burden. Various studies regarding the socioeconomic cost burden of diabetes are well explored in developed countries but almost absent in developing countries like Bangladesh. The main objective of the study is to estimate the total socioeconomic burden of diabetes. It is a prospective longitudinal follow up study which is analytical in nature. Primary and secondary data are collected from patients who are undergoing treatment for diabetes at the out-patient department of Bangladesh Institute of Research & Rehabilitation in Diabetes, Endocrine & Metabolic Disorders (BIRDEM). Of the 2115 diabetic subjects, females constitute around 50.35% of the study subject, and the rest are male (49.65%). Among the subjects, 1323 are controlled, and 792 are uncontrolled diabetes. Cost analysis of 2115 diabetic patients shows that the total cost of diabetes management and treatment is US$ 903018 with an average of US$ 426.95 per patient. In direct cost, the investigation and medical treatment at hospital along with investigation constitute most of the cost in diabetes. The average cost of a hospital is US$ 311.79, which indicates an alarming warn for diabetic patients. The indirect cost shows that cost of productivity loss (US$ 51110.1) is higher among the all indirect item. All constitute total indirect cost as US$ 69215.7. The incremental cost of intensive management of uncontrolled diabetes is US$ 101.54 per patient and event-free time gained in this group is 0.55 years and the life years gain is 1.19 years. The incremental cost per event-free year gained is US$ 198.12. The incremental cost of intensive management of the controlled group is US$ 89.54 per patient and event-free time gained is 0.68 years, and the life year gain is 1.12 years. The incremental cost per event-free year gained is US$ 223.34. The EuroQoL difference between the groups is found to be 64.04. The cost-effective ratio is found to be US$ 1.64 cost per effect in case of controlled diabetes and US$ 1.69 cost per effect in case of uncontrolled diabetes. So management of diabetes is much more cost-effective. Cost of young type 1 diabetic patient showed upper socioeconomic class, and with the increase of the duration of diabetes, the cost increased also. The dietary pattern showed macronutrients intake and cost are significantly higher in the uncontrolled group than their counterparts. Proper management and control of diabetes can decrease the cost of care for the long term.

Keywords: cost, cost-effective, chronic diseases, diabetes care, burden, Bangladesh

Procedia PDF Downloads 129
247 Unravelling the Relationship Between Maternal and Fetal ACE2 Gene Polymorphism and Preeclampsia Risk

Authors: Sonia Tamanna, Akramul Hassan, Mohammad Shakil Mahmood, Farzana Ansari, Gowhar Rashid, Mir Fahim Faisal, M. Zakir Hossain Howlader

Abstract:

Background: Preeclampsia (PE), a pregnancy-specific hypertensive disorder, significantly impacts maternal and fetal health. It is particularly prevalent in underdeveloped countries and is linked to preterm delivery and fetal growth. The renin-angiotensin system (RAS) plays a crucial role in ensuring a successful pregnancy outcome, with Angiotensin-Converting Enzyme 2 (ACE2) being a key component. ACE2 converts ANG II to Ang-(1-7), offering protection against ANG II-induced stress and inflammation while regulating blood pressure and osmotic balance during pregnancy. The reduced maternal plasma angiotensin-converting enzyme 2 (ACE2) seen in preeclampsia might contribute to its pathogenesis. However, there has been a dearth of comprehensive research into the association between ACE2 gene polymorphism and preeclampsia. In the South Asian population, hypertension is strongly linked to two SNPs: rs2285666 and rs879922. This genotype was therefore considered, and the possible association of maternal and fetal ACE2 gene polymorphism with preeclampsia within the Bangladeshi population was evaluated. Method: DNA was extracted from peripheral white blood cells (WBCs) using the organic method, and SNP genotyping was done via PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using logistic regression to determine relative risk. Result: A comprehensive case-control study was conducted on 51 PE patients and their infants, along with 56 control subjects and their infants. Maternal single nuvleotide polymorphisms (SNP) (rs2285666) analysis revealed a strong association between the TT genotype and preeclampsia, with a four-fold increased risk in mothers (P=0.024, OR=4.00, 95% CI=1.36-11.37) compared to their ancestral genotype CC. However, the CT genotype (rs2285666) showed no significant difference (P=0.46, OR=1.54, 95% CI=0.57-4.14). Notably, no significant correlation was found in infants, regardless of their gender. For rs879922, no significant association was observed in both mothers and infants. This pioneering study suggests that mothers carrying the ACE2 gene variant rs2285666 (TT allele) may be at higher risk for preeclampsia, potentially influencing hypertension characteristics, whereas rs879922 does not appear to be associated with developing preeclampsia. Conclusion: This study sheds light on the role of ACE2 gene polymorphism, particularly the rs2285666 TT allele, in maternal susceptibility to preeclampsia. However, rs879922 does not appear to be linked to the risk of PE. This research contributes to our understanding of the genetic underpinnings of preeclampsia, offering insights into potential avenues for prevention and management.

Keywords: ACE2, PCR-RFLP, preeclampsia, single nuvleotide polymorphisms (SNPs)

Procedia PDF Downloads 36
246 Multi-Criteria Evolutionary Algorithm to Develop Efficient Schedules for Complex Maintenance Problems

Authors: Sven Tackenberg, Sönke Duckwitz, Andreas Petz, Christopher M. Schlick

Abstract:

This paper introduces an extension to the well-established Resource-Constrained Project Scheduling Problem (RCPSP) to apply it to complex maintenance problems. The problem is to assign technicians to a team which has to process several tasks with multi-level skill requirements during a work shift. Here, several alternative activities for a task allow both, the temporal shift of activities or the reallocation of technicians and tools. As a result, switches from one valid work process variant to another can be considered and may be selected by the developed evolutionary algorithm based on the present skill level of technicians or the available tools. An additional complication of the observed scheduling problem is that the locations of the construction sites are only temporarily accessible during a day. Due to intensive rail traffic, the available time slots for maintenance and repair works are extremely short and are often distributed throughout the day. To identify efficient working periods, a first concept of a Bayesian network is introduced and is integrated into the extended RCPSP with pre-emptive and non-pre-emptive tasks. Thereby, the Bayesian network is used to calculate the probability of a maintenance task to be processed during a specific period of the shift. Focusing on the domain of maintenance of the railway infrastructure in metropolitan areas as the most unproductive implementation process at construction site, the paper illustrates how the extended RCPSP can be applied for maintenance planning support. A multi-criteria evolutionary algorithm with a problem representation is introduced which is capable of revising technician-task allocations, whereas the duration of the task may be stochastic. The approach uses a novel activity list representation to ensure easily describable and modifiable elements which can be converted into detailed shift schedules. Thereby, the main objective is to develop a shift plan which maximizes the utilization of each technician due to a minimization of the waiting times caused by rail traffic. The results of the already implemented core algorithm illustrate a fast convergence towards an optimal team composition for a shift, an efficient sequence of tasks and a high probability of the subsequent implementation due to the stochastic durations of the tasks. In the paper, the algorithm for the extended RCPSP is analyzed in experimental evaluation using real-world example problems with various size, resource complexity, tightness and so forth.

Keywords: maintenance management, scheduling, resource constrained project scheduling problem, genetic algorithms

Procedia PDF Downloads 209
245 Bulbar Conjunctival Kaposi's Sarcoma Unmasked by Immune Reconstitution Syndrome

Authors: S. Mohd Afzal, R. O'Connell

Abstract:

Kaposi's sarcoma (KS) is the most common HIV-related cancer, and ocular manifestations constitute at least 25% of all KS cases. However, ocular presentations often occur in the context of systemic KS, and isolated lesions are rare. We report a unique case of ocular KS masquerading as subconjunctival haemorrhage, and only developing systemic manifestations after initiation of HIV treatment. Case: A 49-year old man with previous hypertensive stroke and newly diagnosed HIV infection presented with an acutely red left eye following repeated bouts of coughing. Given the convincing history of poorly controlled hypertension and cough, a diagnosis of subconjunctival haemorrhage was made. Over the next week, his ocular lesion began to improve and he subsequently started anti-retroviral therapy. Prior to receiving anti-retroviral therapy, his CD4+ lymphocyte count was 194 cells/mm3 with HIV viral load greater than 1 million/ml. This rapidly improved to a viral load of 150 copies/ml within 2 weeks of starting treatment. However, a few days after starting HIV treatment, his ocular lesion recurred. Ophthalmic examination was otherwise normal. He also developed widespread lymphadenopathy and multiple dark lesions on his torso. Histology and virology confirmed KS, systemically triggered by Immune Reconstitution Syndrome (KS-IRIS). The patient has since undergone chemotherapy successfully. Discussion: Kaposi's sarcoma is an atypical tumour caused by human herpesvirus 8 (HHV-8), also known as Kaposi’s sarcoma-associated herpesvirus (KSHV). In immunosuppressed patients, KSHV can also cause lymphoproliferative disorders such as primary effusion lymphoma and Castleman's disease (in our patient’s case, this was excluded through histological analysis of lymph nodes). KSHV is one of the seven currently known human oncoviruses, and its pathogenesis is poorly understood. Up to 13% of patients with HIV-related KS experience worsening of the disease after starting anti-retroviral treatment, due to a sudden increase in CD4 cell counts. Histology remains the diagnostic gold standard. Current British HIV Association (BHIVA) guidelines recommend treatment using anti-retroviral drugs, with either intralesional vinblastine for local disease or systemic chemotherapy for disseminated KS. Conclusion: This case is unique as ocular KS as initial presentation is rare and our patient's diagnosis was only made after systemic lesions were triggered by immune reconstitution. KS should be considered as an important differential diagnosis for red eyes in all patients at risk of acquiring HIV infection.

Keywords: human herpesvirus 8, human immunodeficiency virus, immune reconstitution syndrome, Kaposi’s sarcoma, Kaposi’s sarcoma-associated herpesvirus

Procedia PDF Downloads 313
244 Effect of Plant Growth Regulators on in vitro Biosynthesis of Antioxidative Compounds in Callus Culture and Regenerated Plantlets Derived from Taraxacum officinale

Authors: Neha Sahu, Awantika Singh, Brijesh Kumar, K. R. Arya

Abstract:

Taraxacum officinale Weber or dandelion (Asteraceae) is an important Indian traditional herb used to treat liver detoxification, digestive problems, spleen, hepatic and kidney disorders, etc. The plant is well known to possess important phenolic and flavonoids to serve as a potential source of antioxidative and chemoprotective agents. Biosynthesis of bioactive compounds through in vitro cultures is a requisite for natural resource conservation and to provide an alternative source for pharmaceutical applications. Thus an efficient and reproducible protocol was developed for in vitro biosynthesis of bioactive antioxidative compounds from leaf derived callus and in vitro regenerated cultures of Taraxacum officinale using MS media fortified with various combinations of auxins and cytokinins. MS media containing 0.25 mg/l 2, 4-D (2, 4-Dichloro phenoxyacetic acid) with 0.05 mg/l 2-iP [N6-(2-Isopentenyl adenine)] was found as an effective combination for the establishment of callus with 92 % callus induction frequency. Moreover, 2.5 mg/l NAA (α-Naphthalene acetic acid) with 0.5 mg/l BAP (6-Benzyl aminopurine) and 1.5 mg/l NAA showed the optimal response for in vitro plant regeneration with 80 % regeneration frequency and rooting respectively. In vitro regenerated plantlets were further transferred to soil and acclimatized. Quantitative variability of accumulated bioactive compounds in cultures (in vitro callus, plantlets and acclimatized) were determined through UPLC-MS/MS (ultra-performance liquid chromatography-triple quadrupole-linear ion trap mass spectrometry) and compared with wild plants. The phytochemical determination of in vitro and wild grown samples showed the accumulation of 6 compounds. In in vitro callus cultures and regenerated plantlets, two major antioxidative compounds i.e. chlorogenic acid (14950.0 µg/g and 4086.67 µg/g) and umbelliferone (10400.00 µg/g and 2541.67 µg/g) were found respectively. Scopoletin was found to be highest in vitro regenerated plants (83.11 µg/g) as compared to wild plants (52.75 µg/g). Notably, scopoletin is not detected in callus and acclimatized plants, but quinic acid (6433.33 µg/g) and protocatechuic acid (92.33 µg/g) were accumulated at the highest level in acclimatized plants as compared to other samples. Wild grown plants contained highest content (948.33 µg/g) of flavonoid glycoside i.e. luteolin-7-O-glucoside. Our data suggests that in vitro callus and regenerated plants biosynthesized higher content of antioxidative compounds in controlled conditions when compared to wild grown plants. These standardized cultural conditions may be explored as a sustainable source of plant materials for enhanced production and adequate supply of oxidative polyphenols.

Keywords: anti-oxidative compounds, in vitro cultures, Taraxacum officinale, UPLC-MS/MS

Procedia PDF Downloads 180
243 Correlation between Sleeping Disturbance and Academic Achievement in University Female Students

Authors: Amel Fayed, Shaden AlSubaih, Nouf Al-Qahtani, Asmaa Gosty, Asma Aljuhaimi

Abstract:

Introduction: Sleep difficulties are vastly predominant among adults and affect different aspects of their life. Many literatures found out that females are more liable to suffer from sleeping problems. College students are typical example of people dealing with daily pressure and stress to fulfill the daily tasks and responsibilities. In addition to their ultimate goal of achieving excellent academic records which require their full concentration and effort. Consequently, many of them start complaining of sleep deprivations which can undesirably affect their academic achievements. This study was aiming to investigate how prevalent is sleeping disorders among different colleges in the university and its relation their academic achievements. Methods: A cross-sectional study of female university students at Princess Norah Bint Abdulrahman University using self-administered questionnaire was conducted. Insomnia Severity Index (ISI) was used to assess different grades of insomnia. Students were requested to answer the questions evaluating their sleeping habits over the last two weeks. Participants reported their latest Grade Point Average (GPA). According to ISI, insomnia severity is reported as ‘No clinically significant’, ‘Subthreshold ‘,’ Clinical moderate insomnia’ and ‘Clinical severe’. Results: In the current study, 228 students participated; 172(75.4%) from medical colleges and 56 (24.6%) from non-medical colleges. About 80% of them claimed to have never taken any medications to help them sleep while only three students confirmed their regular use of sleep-inducing medications. About 16% of the students drink milk or other hot drinks to help them fall asleep. None of the students was suspected of having obstructive sleep apnea or apparent psychiatric disorder. According to ISI, 182 (79.8%) students suffered from subthreshold insomnia, 37 (16.2%) had clinical insomnia (moderate severity) and 9 (3.9%) of students had sleeping problems of non-clinically significance level. However, none of students was found to have severe clinical insomnia. Clinical moderate insomnia was reported in 15.1% of medical students and 19.6% of non-medical students. Moreover, about 82% of medical students suffered from subthreshold insomnia compared to 73.2% of non-medical students. This difference was not statistically significant (P=0.24). About 63% of medical students and 48% of non-medical students believed that high percentage of their colleagues are suffering from insomnias (p-value 0.08) The association between GPA and insomnia revealed that; 19.5% of low GPA group compared to 9.3% of high GPA group had clinical moderate insomnia. This association was not statistically significant (p=0.15). The correlation between the GPA and the ISI score was negative but not conclusive (r=-0.08, p-value = 0.29). More than 92% of all students agreed that sleeping problems affect their academic achievement to varying degrees. Conclusion: our results suggest that insomnia is commonly prevalent among female university students and might affect the students’ achievement. This study provides preliminary data about the quality of sleep among medical and non-medical university students which may be used to promote the healthy sleeping habits among female students.

Keywords: academic achievement, females, insomnia, university student

Procedia PDF Downloads 310
242 Association of Copy Number Variation of the CHKB, KLF6, GPC1, and CHRM3 Genes with Growth Traits of Datong Yak (Bos grunniens)

Authors: Habtamu Abera Goshu, Ping Yan

Abstract:

Copy number variation (CNV) is a significant marker of the genetic and phenotypic diversity among individuals that accounts for complex quantitative traits of phenotype and diseases via modulating gene dosage, position effects, alteration of downstream pathways, modification of chromosome structure, and position within the nucleus and disrupting coding regions in the genome. Associating copy number variations (CNVs) with growth and gene expression are a powerful approach for identifying genomic characteristics that contribute to phenotypic and genotypic variation. A previous study using next-generation sequencing illustrated that the choline kinase beta (CHKB), Krüpple-like factor 6 (KLF6), glypican 1(GPC1), and cholinergic receptor muscarinic 3 (CHRM3) genes reside within copy number variable regions (CNVRs) of yak populations that overlap with quantitative trait loci (QTLs) of meat quality and growth. As a result, this research aimed to determine the association of CNVs of the KLF6, CHKB, GPC1, and CHRM3 genes with growth traits in the Datong yak breed. The association between the CNV types of the KLF6, CHKB, GPC1, and CHRM3 genes and the growth traits in the Datong yak breed was determined by one-way analysis of variance (ANOVA) using SPSS software. The CNV types were classified as a loss (a copy number of 0 or 1), gain (a copy number >2), and normal (a copy number of 2) relative to the reference gene, BTF3 in the 387 individuals of Datong yak. These results indicated that the normal CNV types of the CHKB and GPC1 genes were significantly (P<0.05) associated with high body length, height and weight, and chest girth in six-month-old and five-year-old Datong yaks. On the other hand, the loss CNV types of the KLF6 gene is significantly (P<0.05) associated with body weight and length and chest girth at six-month-old and five-year-old Datong yaks. In the contrary, the gain CNV type of the CHRM3 gene is highly (P<0.05) associated with body weight, length, height, and chest girth in six-month-old and five-year-old. This work provides the first observation of the biological role of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in the Datong yak breed and might, therefore, provide a novel opportunity to utilize data on CNVs in designing molecular markers for the selection of animal breeding programs for larger populations of various yak breeds. Therefore, we hypothesized that this study provided inclusive information on the application of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in growth traits in Datong yaks and its possible function in bovine species.

Keywords: Copy number variation, growth traits, yak, genes

Procedia PDF Downloads 140
241 Severe Infestation of Laspeyresia Koenigana Fab. and Alternaria Leaf Spot on Azadirachta Indica (Neem)

Authors: Shiwani Bhatnagar, K. K. Srivastava, Sangeeta Singh, Ameen Ullah Khan, Bundesh Kumar, Lokendra Singh Rathore

Abstract:

From the instigation of the world medicinal plants are treated as part and parcel of human society to fight against diseases. Azadirachta indica (Neem) a herbal plant has been used as an Indian traditional medicine since ages and its products are acknowledged to solve agricultural, forestry and public health related problems, owing to its beneficial medicinal properties. Each part of the neem tree is known for its medicinal property. Bark & leaf extracts of neem have been used to control leprosy, respiratory disorders, constipation and also as blood purifier and a general health tonic. Neem is still regarded as ' rural community dispensary' in India or a tree for solving medical problems. Use of Neem as pesticides for the management of insect pest of agriculture crops and forestry has been seen as a shift in the use of synthetic pesticides to ecofriendly botanicals. Neem oil and seed extracts possess germicidal and anti-bacterial properties which when sprayed on the plant helps in protecting them from foliage pests. Azadirachtin, the main active ingredient found in neem tree, acts as an insect repellent and antifeedant. However the young plants are susceptible to many insect pest and foliar diseases. Recently, in the avenue plantation, planted by Arid Forest Research Institute, Jodhpur, around the premises of IIT Jodhpur, two years old neem plants were found to be severely infested with tip borer Laspeyresia koenigana (Family: Eucosmidae). The adult moth of L. koenigana lays eggs on the tender shoots and the young larvae tunnel into the shoot and feed inside. A small pinhole can be seen at the entrance point, from where the larva enters in to the stem. The severely attached apical shoots exhibit profuse gum exudation resulting in development of a callus structure. The internal feeding causes the stem to wilt and the leaves to dry up from the tips resulting in growth retardation. Alternaria Leaf spot and blight symptoms were also recorded on these neem plants. For the management of tip borer and Alternaria Leaf spot, foliar spray of monocrotophos @0.05% and Dithane M-45 @ 0.15% and powermin @ 2ml/lit were found efficient in managing the insect pest and foliar disease problem. No Further incidence of pest/diseases was noticed.

Keywords: azadirachta indica, alternaria leaf spot, laspeyresia koenigana, management

Procedia PDF Downloads 447
240 Comparison of Extracellular miRNA from Different Lymphocyte Cell Lines and Isolation Methods

Authors: Christelle E. Chua, Alicia L. Ho

Abstract:

The development of a panel of differential gene expression signatures has been of interest in the field of biomarker discovery for radiation exposure. In the absence of the availability of exposed human subjects, lymphocyte cell lines have often been used as a surrogate to human whole blood, when performing ex vivo irradiation studies. The extent of variation between different lymphocyte cell lines is currently unclear, especially with regard to the expression of extracellular miRNA. This study compares the expression profile of extracellular miRNA isolated from different lymphocyte cell lines. It also compares the profile of miRNA obtained when different exosome isolation kits are used. Lymphocyte cell lines were created using lymphocytes isolated from healthy adult males of similar racial descent (Chinese American and Chinese Singaporean) and immortalised with Epstein-Barr virus. The cell lines were cultured in exosome-free cell culture media for 72h and the cell culture supernatant was removed for exosome isolation. Two exosome isolation kits were used. Total exosome isolation reagent (TEIR, ThermoFisher) is a polyethylene glycol (PEG)-based exosome precipitation kit, while ExoSpin (ES, Cell Guidance Systems) is a PEG-based exosome precipitation kit that includes an additional size exclusion chromatography step. miRNA from the isolated exosomes were isolated using miRNEASY minikit (Qiagen) and analysed using nCounter miRNA assay (Nanostring). Principal component analysis (PCA) results suggested that the overall extracellular miRNA expression profile differed between the lymphocyte cell line originating from the Chinese American donor and the cell line originating from the Chinese Singaporean donor. As the gender, age and racial origins of both donors are similar, this may suggest that there are other genetic or epigenetic differences that account for the variation in extracellular miRNA gene expression in lymphocyte cell lines. However, statistical analysis showed that only 3 miRNA genes had a fold difference > 2 at p < 0.05, suggesting that the differences may not be of that great a significance as to impact overall conclusions drawn from different cell lines. Subsequent analysis using cell lines from other donors will give further insight into the reproducibility of results when difference cell lines are used. PCA results also suggested that the method of exosome isolation impacted the expression profile. 107 miRNA had a fold difference > 2 at p < 0.05. This suggests that the inclusion of an additional size exclusion chromatography step altered the subset of the extracellular vesicles that were isolated. In conclusion, these results suggest that extracellular miRNA can be isolated and analysed from exosomes derived from lymphocyte cell lines. However, care must be taken in the choice of cell line and method of exosome isolation used.

Keywords: biomarker, extracellular miRNA, isolation methods, lymphocyte cell line

Procedia PDF Downloads 169
239 Role of Indigenous Peoples in Climate Change

Authors: Neelam Kadyan, Pratima Ranga, Yogender

Abstract:

Indigenous people are the One who are affected by the climate change the most, although there have contributed little to its causes. This is largely a result of their historic dependence on local biological diversity, ecosystem services and cultural landscapes as a source of their sustenance and well-being. Comprising only four percent of the world’s population they utilize 22 percent of the world’s land surface. Despite their high exposure-sensitivity indigenous peoples and local communities are actively responding to changing climatic conditions and have demonstrated their resourcefulness and resilience in the face of climate change. Traditional Indigenous territories encompass up to 22 percent of the world’s land surface and they coincide with areas that hold 80 percent of the planet’s biodiversity. Also, the greatest diversity of indigenous groups coincides with the world’s largest tropical forest wilderness areas in the Americas (including Amazon), Africa, and Asia, and 11 percent of world forest lands are legally owned by Indigenous Peoples and communities. This convergence of biodiversity-significant areas and indigenous territories presents an enormous opportunity to expand efforts to conserve biodiversity beyond parks, which tend to benefit from most of the funding for biodiversity conservation. Tapping on Ancestral Knowledge Indigenous Peoples are carriers of ancestral knowledge and wisdom about this biodiversity. Their effective participation in biodiversity conservation programs as experts in protecting and managing biodiversity and natural resources would result in more comprehensive and cost effective conservation and management of biodiversity worldwide. Addressing the Climate Change Agenda Indigenous Peoples has played a key role in climate change mitigation and adaptation. The territories of indigenous groups who have been given the rights to their lands have been better conserved than the adjacent lands (i.e., Brazil, Colombia, Nicaragua, etc.). Preserving large extensions of forests would not only support the climate change objectives, but it would respect the rights of Indigenous Peoples and conserve biodiversity as well. A climate change agenda fully involving Indigenous Peoples has many more benefits than if only government and/or the private sector are involved. Indigenous peoples are some of the most vulnerable groups to the negative effects of climate change. Also, they are a source of knowledge to the many solutions that will be needed to avoid or ameliorate those effects. For example, ancestral territories often provide excellent examples of a landscape design that can resist the negatives effects of climate change. Over the millennia, Indigenous Peoples have developed adaptation models to climate change. They have also developed genetic varieties of medicinal and useful plants and animal breeds with a wider natural range of resistance to climatic and ecological variability.

Keywords: ancestral knowledge, cost effective conservation, management, indigenous peoples, climate change

Procedia PDF Downloads 651
238 Poly(Acrylamide-Co-Itaconic Acid) Nanocomposite Hydrogels and Its Use in the Removal of Lead in Aqueous Solution

Authors: Majid Farsadrouh Rashti, Alireza Mohammadinejad, Amir Shafiee Kisomi

Abstract:

Lead (Pb²⁺), a cation, is a prime constituent of the majority of the industrial effluents such as mining, smelting and coal combustion, Pb-based painting and Pb containing pipes in water supply systems, paper and pulp refineries, printing, paints and pigments, explosive manufacturing, storage batteries, alloy and steel industries. The maximum permissible limit of lead in the water used for drinking and domesticating purpose is 0.01 mg/L as advised by Bureau of Indian Standards, BIS. This becomes the acceptable 'safe' level of lead(II) ions in water beyond which, the water becomes unfit for human use and consumption, and is potential enough to lead health problems and epidemics leading to kidney failure, neuronal disorders, and reproductive infertility. Superabsorbent hydrogels are loosely crosslinked hydrophilic polymers that in contact with aqueous solution can easily water and swell to several times to their initial volume without dissolving in aqueous medium. Superabsorbents are kind of hydrogels capable to swell and absorb a large amount of water in their three-dimensional networks. While the shapes of hydrogels do not change extensively during swelling, because of tremendously swelling capacity of superabsorbent, their shape will broadly change.Because of their superb response to changing environmental conditions including temperature pH, and solvent composition, superabsorbents have been attracting in numerous industrial applications. For instance, water retention property and subsequently. Natural-based superabsorbent hydrogels have attracted much attention in medical pharmaceutical, baby diapers, agriculture, and horticulture because of their non-toxicity, biocompatibility, and biodegradability. Novel superabsorbent hydrogel nanocomposites were prepared by graft copolymerization of acrylamide and itaconic acid in the presence of nanoclay (laponite), using methylene bisacrylamide (MBA) and potassium persulfate, former as a crosslinking agent and the second as an initiator. The superabsorbent hydrogel nanocomposites structure was characterized by FTIR spectroscopy, SEM and TGA Spectroscopy adsorption of metal ions on poly (AAm-co-IA). The equilibrium swelling values of copolymer was determined by gravimetric method. During the adsorption of metal ions on polymer, residual metal ion concentration in the solution and the solution pH were measured. The effects of the clay content of the hydrogel on its metal ions uptake behavior were studied. The NC hydrogels may be considered as a good candidate for environmental applications to retain more water and to remove heavy metals.

Keywords: adsorption, hydrogel, nanocomposite, super adsorbent

Procedia PDF Downloads 165
237 A Report of 5-Months-Old Baby with Balanced Chromosomal Rearrangements along with Phenotypic Abnormalities

Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

Abstract:

We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

Procedia PDF Downloads 180
236 The Effectiveness of Psychosocial Interventions for Survivors of Natural Disasters: A Systematic Review

Authors: Santhani M. Selveindran

Abstract:

Background: Natural disasters are traumatic global events that are becoming increasing more common, with significant psychosocial impact on survivors. This impact results not only in psychosocial distress but, for many, can lead to psychosocial disorders and chronic psychopathology. While there are currently available interventions that seek to prevent and treat these psychosocial sequelae, their effectiveness is uncertain. The evidence-base is emerging with more primary studies evaluating the effectiveness of various psychosocial interventions for survivors of natural disasters, which remains to be synthesized. Aim of Review: To identify, critically appraise and synthesize the current evidence-base on the effectiveness of psychosocial interventions in preventing or treating Post-Traumatic Stress Disorder (PTSD), Major Depressive Disorder (MDD) and/or Generalized Anxiety Disorder (GAD) in adults and children who are survivors of natural disasters. Methods: A protocol was developed as a guide to carry out this review. A systematic search was conducted in eight international electronic databases, three grey literature databases, one dissertation and thesis repository, websites of six humanitarian and non-governmental organizations renowned for their work on natural disasters, as well as bibliographic and citation searching for eligible articles. Papers meeting the specific inclusion criteria underwent quality assessment using the Downs and Black checklist. Data were extracted from the included papers and analysed by way of narrative synthesis. Results: Database and website searching returned 3777 papers where 31 met the criteria for inclusion. Additional 2 papers were obtained through bibliographic and citation searching. Methodological quality of most papers was fair. Twenty-five studies evaluated psychological interventions, five, social interventions whereas three studies evaluated ‘mixed’ psychological and social interventions. All studies, irrespective of methodological quality, reported post-intervention reductions in symptom scores for PTSD, depression and/or anxiety and where assessed, reduced diagnosis of PTSD and MDD, and produced improvements in self-efficacy and quality of life. Statistically significant results were seen in 27 studies. However, three studies demonstrated that the evaluated interventions may not have been very beneficial. Conclusions: The overall positive results suggest that any psychosocial interventions are favourable and should be delivered to all natural disaster survivors, irrespective of age, country, and phase of disaster. Yet, heterogeneity and methodological shortcomings of the current evidence-base makes it difficult to draw definite conclusions needed to formulate categorical guidance or frameworks. Further, rigorously conducted research is needed in this area, although the feasibility of such, given the context and nature of the problem, is also recognized.

Keywords: psychosocial interventions, natural disasters, survivors, effectiveness

Procedia PDF Downloads 127
235 Monoallelic and Biallelic Deletions of 13q14 in a Group of 36 CLL Patients Investigated by CGH Haematological Cancer and SNP Array (8x60K)

Authors: B. Grygalewicz, R. Woroniecka, J. Rygier, K. Borkowska, A. Labak, B. Nowakowska, B. Pienkowska-Grela

Abstract:

Introduction: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the Western world. Hemizygous and or homozygous loss at 13q14 occur in more than half of cases and constitute the most frequent chromosomal abnormality in CLL. It is believed that deletions 13q14 play a role in CLL pathogenesis. Two microRNA genes miR-15a and miR- 16-1 are targets of 13q14 deletions and plays a tumor suppressor role by targeting antiapoptotic BCL2 gene. Deletion size, as a single change detected in FISH analysis, has haprognostic significance. Patients with small deletions, without RB1 gene involvement, have the best prognosis and the longest overall survival time (OS 133 months). In patients with bigger deletion region, containing RB1 gene, prognosis drops to intermediate, like in patients with normal karyotype and without changes in FISH with overall survival 111 months. Aim: Precise delineation of 13q14 deletions regions in two groups of CLL patients, with mono- and biallelic deletions and qualifications of their prognostic significance. Methods: Detection of 13q14 deletions was performed by FISH analysis with CLL probe panel (D13S319, LAMP1, TP53, ATM, CEP-12). Accurate deletion size detection was performed by CGH Haematological Cancer and SNP array (8x60K). Results: Our investigated group of CLL patients with the 13q14 deletion, detected by FISH analysis, comprised two groups: 18 patients with monoallelic deletions and 18 patients with biallelic deletions. In FISH analysis, in the monoallelic group the range of cells with deletion, was 43% to 97%, while in biallelic group deletion was detected in 11% to 94% of cells. Microarray analysis revealed precise deletion regions. In the monoallelic group, the range of size was 348,12 Kb to 34,82 Mb, with median deletion size 7,93 Mb. In biallelic group discrepancy of total deletions, size was 135,27 Kb to 33,33 Mb, with median deletion size 2,52 Mb. The median size of smaller deletion regions on one copy chromosome 13 was 1,08 Mb while the average region of bigger deletion on the second chromosome 13 was 4,04 Mb. In the monoallelic group, in 8/18 deletion region covered RB1 gene. In the biallelic group, in 4/18 cases, revealed deletion on one copy of biallelic deletion and in 2/18 showed deletion of RB1 gene on both deleted 13q14 regions. All minimal deleted regions included miR-15a and miR-16-1 genes. Genetic results will be correlated with clinical data. Conclusions: Application of CGH microarrays technique in CLL allows accurately delineate the size of 13q14 deletion regions, what have a prognostic value. All deleted regions included miR15a and miR-16-1, what confirms the essential role of these genes in CLL pathogenesis. In our investigated groups of CLL patients with mono- and biallelic 13q14 deletions, patients with biallelic deletion presented smaller deletion sizes (2,52 Mb vs 7,93 Mb), what is connected with better prognosis.

Keywords: CLL, deletion 13q14, CGH microarrays, SNP array

Procedia PDF Downloads 235
234 Evidence-Triggers for Care of Patients with Cleft Lip and Palate in Srinagarind Hospital: The Tawanchai Center and Out-Patients Surgical Room

Authors: Suteera Pradubwong, Pattama Surit, Sumalee Pongpagatip, Tharinee Pethchara, Bowornsilp Chowchuen

Abstract:

Background: Cleft lip and palate (CLP) is a congenital anomaly of the lip and palate that is caused by several factors. It was found in approximately one per 500 to 550 live births depending on nationality and socioeconomic status. The Tawanchai Center and out-patients surgical room of Srinagarind Hospital are responsible for providing care to patients with CLP (starting from birth to adolescent) and their caregivers. From the observations and interviews with nurses working in these units, they reported that both patients and their caregivers confronted many problems which affected their physical and mental health. Based on the Soukup’s model (2000), the researchers used evidence triggers from clinical practice (practice triggers) and related literature (knowledge triggers) to investigate the problems. Objective: The purpose of this study was to investigate the problems of care for patients with CLP in the Tawanchai Center and out-patient surgical room of Srinagarind Hospital. Material and Method: The descriptive method was used in this study. For practice triggers, the researchers obtained the data from medical records of ten patients with CLP and from interviewing two patients with CLP, eight caregivers, two nurses, and two assistant workers. Instruments for the interview consisted of a demographic data form and a semi-structured questionnaire. For knowledge triggers, the researchers used a literature search. The data from both practice and knowledge triggers were collected between February and May 2016. The quantitative data were analyzed through frequency and percentage distributions, and the qualitative data were analyzed through a content analysis. Results: The problems of care gained from practice and knowledge triggers were consistent and were identified as holistic issues, including 1) insufficient feeding, 2) risks of respiratory tract infections and physical disorders, 3) psychological problems, such as anxiety, stress, and distress, 4) socioeconomic problems, such as stigmatization, isolation, and loss of income, 5)spiritual problems, such as low self-esteem and low quality of life, 6) school absence and learning limitation, 7) lack of knowledge about CLP and its treatments, 8) misunderstanding towards roles among the multidisciplinary team, 9) no available services, and 10) shortage of healthcare professionals, especially speech-language pathologists (SLPs). Conclusion: From evidence-triggers, the problems of care affect the patients and their caregivers holistically. Integrated long-term care by the multidisciplinary team is needed for children with CLP starting from birth to adolescent. Nurses should provide effective care to these patients and their caregivers by using a holistic approach and working collaboratively with other healthcare providers in the multidisciplinary team.

Keywords: evidence-triggers, cleft lip, cleft palate, problems of care

Procedia PDF Downloads 194
233 A Novel Chicken W Chromosome Specific Tandem Repeat

Authors: Alsu F. Saifitdinova, Alexey S. Komissarov, Svetlana A. Galkina, Elena I. Koshel, Maria M. Kulak, Stephen J. O'Brien, Elena R. Gaginskaya

Abstract:

The mystery of sex determination is one of the most ancient and still not solved until the end so far. In many species, sex determination is genetic and often accompanied by the presence of dimorphic sex chromosomes in the karyotype. Genomic sequencing gave the information about the gene content of sex chromosomes which allowed to reveal their origin from ordinary autosomes and to trace their evolutionary history. Female-specific W chromosome in birds as well as mammalian male-specific Y chromosome is characterized by the degeneration of gene content and the accumulation of repetitive DNA. Tandem repeats complicate the analysis of genomic data. Despite the best efforts chicken W chromosome assembly includes only 1.2 Mb from expected 55 Mb. Supplementing the information on the sex chromosome composition not only helps to complete the assembly of genomes but also moves us in the direction of understanding of the sex-determination systems evolution. A whole-genome survey to the assembly Gallus_gallus WASHUC 2.60 was applied for repeats search in assembled genome and performed search and assembly of high copy number repeats in unassembled reads of SRR867748 short reads datasets. For cytogenetic analysis conventional methods of fluorescent in situ hybridization was used for previously cloned W specific satellites and specifically designed directly labeled synthetic oligonucleotide DNA probe was used for bioinformatically identified repetitive sequence. Hybridization was performed with mitotic chicken chromosomes and manually isolated giant meiotic lampbrush chromosomes from growing oocytes. A novel chicken W specific satellite (GGAAA)n which is not co-localizes with any previously described classes of W specific repeats was identified and mapped with high resolution. In the composition of autosomes this repeat units was found as a part of upstream regions of gonad specific protein coding sequences. These findings may contribute to the understanding of the role of tandem repeats in sex specific differentiation regulation in birds and sex chromosome evolution. This work was supported by the postdoctoral fellowships from St. Petersburg State University (#1.50.1623.2013 and #1.50.1043.2014), the grant for Leading Scientific Schools (#3553.2014.4) and the grant from Russian foundation for basic researches (#15-04-05684). The equipment and software of Research Resource Center “Chromas” and Theodosius Dobzhansky Center for Genome Bioinformatics of Saint Petersburg State University were used.

Keywords: birds, lampbrush chromosomes, sex chromosomes, tandem repeats

Procedia PDF Downloads 363
232 Effects of Classroom-Based Intervention on Academic Performance of Pupils with Attention Deficit Hyperactivity Disorder in Inclusive Classrooms in Buea

Authors: John Njikem

Abstract:

Attention Deficit Hyperactivity Disorder (ADHD) is one of the most commonly diagnosed behavioral disorders in children, associated with this disorder are core symptoms of inattention, hyperactivity and impulsivity. This study was purposely to enlighten and inform teachers, policy makers and other professionals concern in the education of this group of learners in inclusive schools in Buea, Cameroon. The major purpose of this study was to identify children with ADHD in elementary schools practicing inclusive education and to investigate the effect of classroom based intervention on their academic performance. The research problem stems from the fact that majority of children with ADHD in our school mostly have problems with classroom tasks like paying attention, easily distracted, and difficulties in organization and very little has been done to manage this numerous conditions, therefore it was necessary for the researcher to identify them and implement some inclusive strategies that teachers can better use in managing the behavior of this group of learners. There were four research questions and the study; the sample population used for the study was 27 pupils (3-7years old) formally identified with key symptoms of ADHD from primary 3-6 from four primary inclusive schools in Buea. Two sub-types of ADHD children were identified by using the recent DSM-IV behavioral checklist in recording their behavior after teacher and peer nomination they were later subjected to three groups for classroom intervention. Data collection was done by using interviews and other supportive methods such as document consultation, field notes and informal talks as additional sources was also used to gather information. Classroom Intervention techniques were carried out by the teachers themselves for 8 weeks under the supervision of the researcher, results were recorded for the 27 children's academic performance in the areas of math’s, writing and reading. Descriptive Statistics was applied in analyzing the data in percentages while tables and diagrams were used to represent the results. Findings obtained indicated that there was significant increase in the level of attention and organization on classroom tasks in the areas of reading, writing and mathematics. Finding also show that there was a more significant improvement made on their academic performance using the combined intervention approach which was proven to be the most effective intervention technique for pupils with ADHD in the study. Therefore it is necessary that teachers in inclusive primary schools in Buea understand the needs of these children and learn how to identify them and also use this intervention approaches to accommodate them in classroom task in order to encourage inclusive educational classroom practices in the country. Recommendations were based on each research objective and suggestions for further studies centered on other methods of classroom intervention for ADHD children in inclusive settings.

Keywords: attention deficit hyperactivity disorder, inclusive classrooms, academic performance, impulsivity

Procedia PDF Downloads 223
231 Association of Brain Derived Neurotrophic Factor with Iron as well as Vitamin D, Folate and Cobalamin in Pediatric Metabolic Syndrome

Authors: Mustafa M. Donma, Orkide Donma

Abstract:

The impact of metabolic syndrome (MetS) on cognition and functions of the brain is being investigated. Iron deficiency and deficiencies of B9 (folate) as well as B12 (cobalamin) vitamins are best-known nutritional anemias. They are associated with cognitive disorders and learning difficulties. The antidepressant effects of vitamin D are known and the deficiency state affects mental functions negatively. The aim of this study is to investigate possible correlations of MetS with serum brain-derived neurotrophic factor (BDNF), iron, folate, cobalamin and vitamin D in pediatric patients. 30 children, whose age- and sex-dependent body mass index (BMI) percentiles vary between 85 and 15, 60 morbid obese children with above 99th percentiles constituted the study population. Anthropometric measurements were taken. BMI values were calculated. Age- and sex-dependent BMI percentile values were obtained using the appropriate tables prepared by the World Health Organization (WHO). Obesity classification was performed according to WHO criteria. Those with MetS were evaluated according to MetS criteria. Serum BDNF was determined by enzyme-linked immunosorbent assay. Serum folate was analyzed by an immunoassay analyzer. Serum cobalamin concentrations were measured using electrochemiluminescence immunoassay. Vitamin D status was determined by the measurement of 25-hydroxycholecalciferol [25-hydroxy vitamin D3, 25(OH)D] using high performance liquid chromatography. Statistical evaluations were performed using SPSS for Windows, version 16. The p values less than 0.05 were accepted as statistically significant. Although statistically insignificant, lower folate and cobalamin values were found in MO children compared to those observed for children with normal BMI. For iron and BDNF values, no alterations were detected among the groups. Significantly decreased vitamin D concentrations were noted in MO children with MetS in comparison with those in children with normal BMI (p ≤ 0.05). The positive correlation observed between iron and BDNF in normal-BMI group was not found in two MO groups. In THE MetS group, the partial correlation among iron, BDNF, folate, cobalamin, vitamin D controlling for waist circumference and BMI was r = -0.501; p ≤ 0.05. None was calculated in MO and normal BMI groups. In conclusion, vitamin D should also be considered during the assessment of pediatric MetS. Waist circumference and BMI should collectively be evaluated during the evaluation of MetS in children. Within this context, BDNF appears to be a key biochemical parameter during the examination of obesity degree in terms of mental functions, cognition and learning capacity. The association observed between iron and BDNF in children with normal BMI was not detected in MO groups possibly due to development of inflammation and other obesity-related pathologies. It was suggested that this finding may contribute to mental function impairments commonly observed among obese children.

Keywords: brain-derived neurotrophic factor, iron, vitamin B9, vitamin B12, vitamin D

Procedia PDF Downloads 96
230 Sleep Quality as Perceived by Critically Ill Patients at El Manial University Hospitals

Authors: Mohamed Adel Ahmed, Warda Youssef Morsy , Hanaa Ali El Feky

Abstract:

Background: Literature review cited that sleep is absolutely essential for surviving and reclamation of the quality of life. Critically ill patients often have poor sleep quality with prolonged sleep latency, sleep fragmentation, decreased sleep efficiency and frequent arousals. Nurses have a unique role for the early diagnosis of sleep disorders, decreasing stressors levels and providing the necessary environmental regulations to create a therapeutic ambiance. The aim of the study: to assess perceived sleep quality and identify factors affecting sleep quality among adult critically ill patients At El Manial University Hospital. Research Design: A descriptive exploratory design was utilized. Research questions: a) how do adult critically ill patients perceive sleep quality in the Critical Care Department of El Manial University Hospital? b) What are the factors affecting sleep quality among adult critically ill patients at El Manial University Hospital? Setting: selected critical and cardiac care units at El Manial University Hospital. Sample: A samples of convenience consisting of 100 adult male and female patients were included in the study. Tools of data collection: tool 1: Socio-demographic and Medical Data Sheet, tool 2: Modified St Mary's Hospital Sleep Questionnaire tool 3: Factors Affecting Sleep Quality Questionnaire among ICU Patients Results: The current study revealed that 76.0% of the studied sample had lack of sleep disturbance before hospitalization. However, 84 % had sleep disturbances during ICU stay, of these more than two-thirds (67 %) had moderate sleep disturbance. Presence of strange and bad odors, noise, having pain, fear of death and a loud voice produced by the ICU personnel had the most significant negative impact on patients’ sleep in percentage of 52.4, 50, 61.9, 45.2, 52.4, respectively. Conclusion: Sleep disturbances in the ICU are multifactorial, and ICU patients’ perceived degrees of sleep disturbance as a moderate. Recommendations: Based on findings of the present study, the following are recommended to be done by ICU nurses; create a healing ICU environment that should incorporate noise, light and temperature controls; decrease stimuli during night time hours to promote regulation of the circadian rhythm, allow usage of sleeping aids such as relaxing music, eye patches and earplugs into their daily nursing practice; cluster nursing activities and eliminate non-essential treatments during night time hours to allow uninterrupted sleep periods of at least 90 minutes to complete one sleep cycle , and minimize staff conversation, alarm noise and light during the quiet night time hours.

Keywords: sleep quality, critically ill, patients, perception

Procedia PDF Downloads 422
229 Fabrication of High-Aspect Ratio Vertical Silicon Nanowire Electrode Arrays for Brain-Machine Interfaces

Authors: Su Yin Chiam, Zhipeng Ding, Guang Yang, Danny Jian Hang Tng, Peiyi Song, Geok Ing Ng, Ken-Tye Yong, Qing Xin Zhang

Abstract:

Brain-machine interfaces (BMI) is a ground rich of exploration opportunities where manipulation of neural activity are used for interconnect with myriad form of external devices. These research and intensive development were evolved into various areas from medical field, gaming and entertainment industry till safety and security field. The technology were extended for neurological disorders therapy such as obsessive compulsive disorder and Parkinson’s disease by introducing current pulses to specific region of the brain. Nonetheless, the work to develop a real-time observing, recording and altering of neural signal brain-machine interfaces system will require a significant amount of effort to overcome the obstacles in improving this system without delay in response. To date, feature size of interface devices and the density of the electrode population remain as a limitation in achieving seamless performance on BMI. Currently, the size of the BMI devices is ranging from 10 to 100 microns in terms of electrodes’ diameters. Henceforth, to accommodate the single cell level precise monitoring, smaller and denser Nano-scaled nanowire electrode arrays are vital in fabrication. In this paper, we would like to showcase the fabrication of high aspect ratio of vertical silicon nanowire electrodes arrays using microelectromechanical system (MEMS) method. Nanofabrication of the nanowire electrodes involves in deep reactive ion etching, thermal oxide thinning, electron-beam lithography patterning, sputtering of metal targets and bottom anti-reflection coating (BARC) etch. Metallization on the nanowire electrode tip is a prominent process to optimize the nanowire electrical conductivity and this step remains a challenge during fabrication. Metal electrodes were lithographically defined and yet these metal contacts outline a size scale that is larger than nanometer-scale building blocks hence further limiting potential advantages. Therefore, we present an integrated contact solution that overcomes this size constraint through self-aligned Nickel silicidation process on the tip of vertical silicon nanowire electrodes. A 4 x 4 array of vertical silicon nanowires electrodes with the diameter of 290nm and height of 3µm has been successfully fabricated.

Keywords: brain-machine interfaces, microelectromechanical systems (MEMS), nanowire, nickel silicide

Procedia PDF Downloads 410
228 In vivo Wound Healing Activity and Phytochemical Screening of the Crude Extract and Various Fractions of Kalanchoe petitiana A. Rich (Crassulaceae) Leaves in Mice

Authors: Awol Mekonnen, Temesgen Sidamo, Epherm Engdawork, Kaleab Asresb

Abstract:

Ethnopharmacological Relevance: The leaves of Kalanchoe petitiana A. Rich (Crassulaceae) are used in Ethiopian folk medicine for treatment of evil eye, fractured surface for bone setting and several skin disorders including for the treatment of sores, boils, and malignant wounds. Aim of the Study: In order to scientifically prove the claimed utilization of the plant, the effects of the extracts and the fractions were investigated using in vivo excision, incision and dead space wound models. Materials and Method: Mice were used for wound healing study, while rats and rabbit were used for skin irritation test. For studying healing activity, 80% methanolic extract and the fractions were formulated in strength of 5% and 10%, either as ointment (hydroalcoholic extract, aqueous and methanol fractions) or gel (chloroform fraction). Oral administration of the crude extract was used for dead space model. Negative controls were treated either with simple ointment or sodium carboxyl methyl cellulose xerogel, while positive controls were treated with nitrofurazone (0.2 w/v) skin ointment. Negative controls for dead space model were treated with 1% carboxy methyl cellulose. Parameters, including rate of wound contraction, period of complete epithelializtion, hydroxyproline contents and skin breaking strength were evaluated. Results: Significant wound healing activity was observed with ointment formulated from the crude extract at both 5% and 10% concentration (p<0.01) compared to controls in both excision and incision models. In dead space model, 600 mg/kg (p<0.01), but not 300 mg/kg, significantly increased hydroxyproline content. Fractions showed variable effect, with the chloroform fraction lacking any significant effect. Both 5% and 10% formulations of the aqueous and methanolic fractions significantly increased wound contraction, decreased epithelializtion time and increased hydroxyproline content in excision wound model (p<0.05) as compared to controls. These fractions were also endowed with higher skin breaking strength in incision wound model (p<0.01). Conclusions: The present study provided evidence that the leaves of Kalanchoe petitiana A. Rich possess remarkable wound healing activities supporting the folkloric assertion of the plant. Fractionation revealed that polar or semi-polar compound may play vital role, as both aqueous and methanolic fractions were endowed with wound healing activity.

Keywords: wound healing, Kalanchoae petitiana, excision wound, incision wound, dead space model

Procedia PDF Downloads 280
227 Interdisciplinary Evaluations of Children with Autism Spectrum Disorder in a Telehealth Arena

Authors: Janice Keener, Christine Houlihan

Abstract:

Over the last several years, there has been an increase in children identified as having Autism Spectrum Disorder (ASD). Specialists across several disciplines: mental health and medical professionals have been tasked with ensuring accurate and timely evaluations for children with suspected ASD. Due to the nature of the ASD symptom presentation, an interdisciplinary assessment and treatment approach best addresses the needs of the whole child. During the unprecedented COVID-19 Pandemic, clinicians were faced with how to continue with interdisciplinary assessments in a telehealth arena. Instruments that were previously used to assess ASD in-person were no longer appropriate measures to use due to the safety restrictions. For example, The Autism Diagnostic Observation Schedule requires examiners and children to be in very close proximity of each other and if masks or face shields are worn, they render the evaluation invalid. Similar issues arose with the various cognitive measures that are used to assess children such as the Weschler Tests of Intelligence and the Differential Ability Scale. Thus the need arose to identify measures that are able to be safely and accurately administered using safety guidelines. The incidence of ASD continues to rise over time. Currently, the Center for Disease Control estimates that 1 in 59 children meet the criteria for a diagnosis of ASD. The reasons for this increase are likely multifold, including changes in diagnostic criteria, public awareness of the condition, and other environmental and genetic factors. The rise in the incidence of ASD has led to a greater need for diagnostic and treatment services across the United States. The uncertainty of the diagnostic process can lead to an increased level of stress for families of children with suspected ASD. Along with this increase, there is a need for diagnostic clarity to avoid both under and over-identification of this condition. Interdisciplinary assessment is ideal for children with suspected ASD, as it allows for an assessment of the whole child over the course of time and across multiple settings. Clinicians such as Psychologists and Developmental Pediatricians play important roles in the initial evaluation of autism spectrum disorder. An ASD assessment may consist of several types of measures such as standardized checklists, structured interviews, and direct assessments such as the ADOS-2 are just a few examples. With the advent of telehealth clinicians were asked to continue to provide meaningful interdisciplinary assessments via an electronic platform and, in a sense, going to the family home and evaluating the clinical symptom presentation remotely and confidently making an accurate diagnosis. This poster presentation will review the benefits, limitations, and interpretation of these various instruments. The role of other medical professionals will also be addressed, including medical providers, speech pathology, and occupational therapy.

Keywords: Autism Spectrum Disorder Assessments, Interdisciplinary Evaluations , Tele-Assessment with Autism Spectrum Disorder, Diagnosis of Autism Spectrum Disorder

Procedia PDF Downloads 184