Search results for: Charles Bonnet Syndrome

Authors: Manik Konch

Abstract:

Actions are generally evaluated from moral point of view. Either the action is praised or condemned, but in all cases it involves the agent who performs it. The agent is held morally responsible for bringing out an action. This paper is an attempt to explore the Aristotle’s notion of action and its relation with moral development in response to modern philosophical moral psychology. Particularly, the distinction between voluntary, involuntary, and non-voluntary action in the Nicomachean Ethics with some basic problems from the perspective of moral psychology: the role of choice, moral responsibility, desire, and akrasia for an action. How to do a morally right action? Is there any role of virtue, character to do a moral action? These problems are analyzed and interpreted in order to show that the Aristotelian theory of action significantly contributes to the philosophical study of moral psychology. In this connection, the paper juxtaposes Aristotle’s theory of action with response from David Charles, John R. Searle’s, and Alfred Mele theorization of action in the mechanism of human moral behaviours. To achieve this addressed problem, we consider, how the recent moral philosophical moral psychology research can shed light on Aristotle's ethics by focusing on theory of action. In this connection, we argue that the desire is the only responsible for the akratic action. According to Aristotle, desire is primary source of action and it is the starting point of action and also the endpoint of an action. Therefore we are trying to see how desire can make a person incontinent and motivate to do such irrational actions. Is there any causes which we can say such actions are right or wrong? To measure an action we have need to see the consequences such act. Thus, we discuss the relationship between akrasia and action from the perspective of contemporary moral psychologists and philosophers whose are currently working on it.

Keywords: action, desire, moral psychology, Aristotle

Procedia PDF Downloads 246

Authors: Mihir Kothari, Heena Khan, Vivek Rathod

Abstract:

Assessment of binocular single vision field (BSVF) is traditionally done using a Goldmann perimeter. The measurement of BSVF is important for the management of incomitant strabismus, viz. orbital fractures, thyroid orbitopathy, oculomotor cranial nerve palsies, Duane syndrome etc. In this paper, we describe a new technique for measuring BSVF using a CROM device. Goldmann perimeter is very bulky and expensive (Euro 5000.00 or more) instrument which is 'almost' obsolete from the contemporary ophthalmology practice. Whereas, CROM can be easily made in the DIY (do it yourself) manner for the fraction of the price of the perimeter (only Euro 15.00). Moreover, CROM is useful for the accurate measurement of ocular torticollis vis. nystagmus, paralytic or incomitant squint etc, and it is highly portable.

Keywords: binocular single vision, perimetry, cervical rgen of motion, visual field, binocular single vision field

Procedia PDF Downloads 52

Authors: Kaouther Bergaui, Nafaa Reguigui, Charles Gary

Abstract:

Characterization and the applications of deuterium-deuterium (DD) neutron generator developed by Adelphie technology and acquired by the National Centre of Nuclear Science and Technology (NCNST) were presented in this work. We study the performance of the neutron generator in terms of neutron yield, production efficiency, and the ionic current as a function of the acceleration voltage at various RF powers. We provide the design and optimization of the PGNAA chamber and thus give insight into the capabilities of the planned PGNAA facility. Additional non-destructive techniques were studied employing the DD neutron generator, such as PGNAA and neutron radiography: The PGNAA is used for determining the concentration of 10B in Si and SiO2 matrices by using a germanium detector HPGe and the results obtained are compared with PGNAA system using a Sodium Iodide detector (NaI (Tl)); Neutron radiography facility was tested and simulated, using a camera device CCD and simulated by the Monte Carlo code; and the explosive detection system (EDS) also simulated using the Monte Carlo code. The study allows us to show that the new models of DD neutron generators are feasible and that superior-quality neutron beams could be produced and used for various applications. The feasibility of Boron neutron capture therapy (BNCT) for cancer treatment using a neutron generator was assessed by optimizing Beam Shaping Assembly (BSA) on a phantom using Monte-Carlo (MCNP6) simulations.

Keywords: neutron generator deuterium-deuterium, Monte Carlo method, radiation, neutron flux, neutron activation analysis, born, neutron radiography, explosive detection, BNCT

Procedia PDF Downloads 172

Authors: Agnieszka Fryźlewicz, Jowita Kras, Mikołaj Sadowski, Agnieszka Łapczuk-Krygier, Agnieszka Kącka-Zych Radomir Jasiński

Abstract:

Nicotines are a group of compounds containing conjugated pyridine and pyrrolidine molecular segments. They are widely applied in medicine, pharmacy, and agriculture. Namely as researched treatment of Alzheimer, depression, Parkinson's, Tourette syndrome, general nervous and mental disorders. Furthermore, nicotine itself is used as a stimulant, animal repellent and was widely applied as an insecticide. In our work, we obtained nicotine analogues with possible applications in agriculture. The synthesis employed [3+2] cycloaddition (32CA) reactions, occurring between pirydyl-functionalised nitrones and conjugated nitroalkenes, that allowed us to fully regio- and stereoselectively obtain product. Moreover, cycloaddition reaction realizes rapidly in mild conditions with the full atomic economy, thus fitting into “green chemistry” trends.

Keywords: nicotine, isoxazolidine, 1-3-dipolar cycloaddition, green chemistry, biological and pharmacological activity

Procedia PDF Downloads 63

Authors: Ayda Khosravanihaghighi, Pramod Koshy, Bill Walsh, Vedran Lovric, Charles Christopher Sorrell

Abstract:

There is an increasing demand for orthopedic implants owing to the increasing numbers of the aging population. Titanium alloy (Ti6Al4V) is a common material used for orthopedic implants owing to its advantageous properties in terms of good corrosion resistance, minimal elastic modulus mismatch with bone, bio-inertness, and high mechanical strength. However, it is important to improve the bioactivity and osseointegration of the titanium alloy and this can be achieved by coating the implant surface with suitable ceramic materials. In the present work, pure and doped-ceria (CeO₂) coatings were deposited by spin coating on the titanium alloy surface in order to enhance the biological interactions between the surface of the implant and the surrounding tissue. In order to examine the bone-binding ability of an implant, simulated body fluid (SBF) tests were conducted in order to assess the capability of apatite layer formation on the surface and thus predict in vivo bone bioactivity. Characterization was done using scanning electron microscopy (SEM) and X-ray diffraction (XRD) analyses to determine the extent of apatite formation. Preliminary tests showed that the CeO₂ coatings were biocompatible and that the extent of apatite formation and its characteristics can be enhanced by doping with suitable metal ions.

Keywords: apatite layer, biocompatibility, ceria, orthopaedic implant, SBF, spin coater, Ti-implant

Procedia PDF Downloads 135

Authors: Muhammad Saqlain, Nazar Abbas Saqib, Muazzam A. Khan

Abstract:

Heart Failure (HF) has become the major health problem in our society. The prevalence of HF has increased as the patient’s ages and it is the major cause of the high mortality rate in adults. A successful identification and progression of HF can be helpful to reduce the individual and social burden from this syndrome. In this study, we use a real data set of cardiac patients to propose a classification model for the identification and progression of HF. The data set has divided into three age groups, namely young, adult, and old and then each age group have further classified into four classes according to patient’s current physical condition. Contemporary Data Mining classification algorithms have been applied to each individual class of every age group to identify the HF. Decision Tree (DT) gives the highest accuracy of 90% and outperform all other algorithms. Our model accurately diagnoses different stages of HF for each age group and it can be very useful for the early prediction of HF.

Keywords: decision tree, heart failure, data mining, classification model

Procedia PDF Downloads 388

Authors: Elly Usman, S. Dante, Diah Purnamasari

Abstract:

Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.

Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics

Procedia PDF Downloads 409

Authors: Ifeanyi Charles Otuokere, Victoria Nneoma Nnochiri

Abstract:

Entrepreneurship generally and specifically within the rural communities in Nigeria is a fast means of bringing development within the communities. This is made possible by utmost maximization and management of available local resources to develop rural areas through good management of these local resources. This study anchors on the rural development paradigm and the integrated rural development theories to understudy the knowledge of rural entrepreneurs on rural economic development. The research study made use of surveys and descriptive analysis. The assessable population for the study, which was randomly selected, is 100 rural entrepreneurs from ten rural communities within the Ikwuano Local Government Area of Abia State. The study made use of both primary and secondary as a source of data collection with much emphasis on a primary source, although secondary data such as journals, textbooks electronic sources were also utilised. A carefully structured questionnaire drafted to extract raw data was administered to selected entrepreneurs. The findings of the study showed that developments within rural communities can only be achieved through rural entrepreneurship. This is evidenced in increased output, job creation, and most importantly, reduction of rural to urban migration, among other things. Recommendations were also made based on these findings; the researchers recommended that infrastructural developments should be made available in the rural communities and government policies should create enabling environments along with other assistance to help these rural entrepreneurs achieve their sole aim.

Keywords: economic developments, rural communities, rural development, rural entrepreneurship

Procedia PDF Downloads 208

Authors: Neda Valizadeh, Soudabeh Shafiee Ardestani, Arvin Najafi

Abstract:

Objectives: The aim of this study is to evaluate the association of mid-regional pro-atrial natriuretic peptide (MRproANP), procalcitonin (PCT), proendothelin-1 (proET-1) levels with sepsis severity in Emergency ward patients. Materials and Methods: We assessed the predictive value of MRproANP, PCT, copeptin, and proET-1 in early sepsis among patients referring to the emergency ward with a suspected sepsis. Results-132 patients were enrolled in this study. 45 (34%) patients had a final diagnosis of sepsis. A higher percentage of patients with definite sepsis had systemic inflammatory response syndrome (SIRS) criteria at initial visit in comparison with no-sepsis patients (P<0.05) and were admitted to the hospital (P<0.05). PCT levels were higher in sepsis patients [P<0.05]. There was no significant differences for MRproANP or proET-1 in sepsis patients (P=0.47). Conclusion: A combination of SIRS criteria and PCT levels is beneficial for the early sepsis diagnosis in emergency ward patients with a suspicious infection disease.

Keywords: emergency, prolactin, sepsis, biomarkers

Procedia PDF Downloads 420

Authors: Kennedy Zinn, Chris Anderson

Abstract:

Chronic Covid syndrome (CCS) is a condition in which individuals who test positive for Covid-19 experience persistent symptoms after recovering from the virus. CCS affects every organ system, including the central nervous system. Neurological “long-haul” symptoms last from a few weeks to several months and include brain fog, chronic fatigue, dyspnea, mood dysregulation, and headaches. Data suggest that 10-30% of individuals testing positive for Covid-19 develop CCS. Current literature indicates a decreased quality of life in persistent symptoms. CCS is a pervasive and pernicious COVID-19 sequelae. More research is needed to understand risk factors, impact, and possible interventions. Research frequently cites cytokine storming as noteworthy etiology in CCS. Cytokine storming is a malfunctional immune response and facilitates multidimensional interconnected physiological responses. The most prominent responses include abnormal blood flow, hypoxia/hypoxemia, inflammation, and endothelial damage. Neurological impairments and pathogenesis in CCS parallel that of traumatic brain injury (TBI). Both exhibit impairments in memory, cognition, mood, sustained attention, and chronic fatigue. Evidence suggests abnormal blood flow, inflammation, and hypoxemia as shared causal factors. Cytokine storming is also typical in mTBI. The shared characteristics in symptoms and etiology suggest potential parallel routes of investigation that allow for better understanding of CCS. Research on the effect of altitude in mTBI varies. Literature finds decreased rates of concussions at higher altitudes. Other studies suggest that at a higher altitude, pre-existing mTBI symptoms are exacerbated. This may mean that in CCS, the geographical location where individuals live and the location where individuals experienced acute Covid-19 symptoms may influence the severity and risk of developing CCS. It also suggests that clinics which treat mTBI patients could also provide benefits for those with CCS. This study aims to examine the relationships between altitude and CCS as a risk factor and investigate the longevity and severity of symptoms in different altitudes. Existing patient data from a concussion clinic using fMRI scans and self-reported symptoms will be used for approximately 30 individuals with CCS symptoms. The association between acclimated altitude and CCS severity will be analyzed. Patients will be classified into low, medium, and high altitude groups and compared for differences on fMRI severity scores and self-reported measures. It is anticipated that individuals living in lower altitudes are at higher risk of developing more severe neuropsychological symptoms in CCS. It is also anticipated that a treatment approach for mTBI will also be beneficial to those with CCS.

Keywords: altitude, chronic covid syndrome, concussion, covid brain, EPIC treatment, fMRI, traumatic brain injury

Procedia PDF Downloads 117

Authors: Giulia Bonaldo, Alberto Vaccheri, Ottavio D'Annibali, Domenico Motola

Abstract:

The Human Papilloma Virus (HPV) was shown to be the cause of different types of carcinomas, first of all of the cervical intraepithelial neoplasia. Since the early 80s to today, thanks first to the preventive screening campaigns (pap-test) and following to the introduction of HPV vaccines on the market; the number of new cases of cervical cancer has decreased significantly. The HPV vaccines currently approved are three: Cervarix® (HPV2 - virus type: 16 and 18), Gardasil® (HPV4 - 6, 11, 16, 18) and Gardasil 9® (HPV9 - 6, 11, 16, 18, 31, 33, 45, 52, 58), which all protect against the two high-risk HPVs (6, 11) that are mainly involved in cervical cancers. Despite the remarkable effectiveness of these vaccines has been demonstrated, in the recent years, there have been many complaints about their risk-benefit profile due to Adverse Events Following Immunization (AEFI). The purpose of this study is to provide a support about the ongoing discussion on the safety profile of HPV vaccines based on real life data deriving from spontaneous reports of suspected AEFIs collected in the Vaccine Adverse Events Reporting System (VAERS). VAERS is a freely-available national vaccine safety surveillance database of AEFI, co-administered by the Centers for Disease Control and Prevention (CDC) and Food and Drug Administration (FDA). We collected all the reports between January 2007 to December 2017 related to the HPV vaccines with a brand name (HPV2, HPV4, HPV9) or without (HPVX). A disproportionality analysis using Reporting Odds Ratio (ROR) with 95% confidence interval and p value ≤ 0.05 was performed. Over the 10-year period, 54889 reports of AEFI related to HPV vaccines reported in VAERS, corresponding to 224863 vaccine-event pairs, were retrieved. The highest number of reports was related to Gardasil (n = 42244), followed by Gardasil 9 (7212) and Cervarix (3904). The brand name of the HPV vaccine was not reported in 1529 cases. The two events more frequently reported and statistically significant for each vaccine were: dizziness (n = 5053) ROR = 1.28 (CI95% 1.24 – 1.31) and syncope (4808) ROR = 1.21 (1.17 – 1.25) for Gardasil. For Gardasil 9, injection site pain (305) ROR = 1.40 (1.25 – 1.57) and injection site erythema (297) ROR = 1.88 (1.67 – 2.10) and for Cervarix, headache (672) ROR = 1.14 (1.06 – 1.23) and loss of consciousness (528) ROR = 1.71 (1.57 – 1.87). In total, we collected 406 reports of death and 2461 cases of permanent disability in the ten-year period. The events consisting of incorrect vaccine storage or incorrect administration were not considered. The AEFI analysis showed that the most frequently reported events are non-serious and listed in the corresponding SmPCs. In addition to these, potential safety signals arose regarding less frequent and severe AEFIs that would deserve further investigation. This already happened with the referral of the European Medicines Agency (EMA) for the adverse events POTS (Postural Orthostatic Tachycardia Syndrome) and CRPS (Complex Regional Pain Syndrome) associated with anti-papillomavirus vaccines.

Keywords: adverse drug reactions, pharmacovigilance, safety, vaccines

Procedia PDF Downloads 145

Authors: R. P. Hewawasam, M. H. A. D. de Silva, M. A. G. Iresha

Abstract:

Obesity is associated with an increased risk of developing insulin resistance. Insulin resistance often progresses to type-2 diabetes mellitus and is linked to a wide variety of other pathophysiological features including hypertension, hyperlipidemia, atherosclerosis (metabolic syndrome) and polycystic ovarian syndrome. Macrosomia is common in infants born to not only women with gestational diabetes mellitus but also non-diabetic obese women. During the past two decades, obesity in children and adolescents has risen significantly in Asian populations including Sri Lanka. There is increasing evidence to believe that infants who are born large for gestational age (LGA) are more likely to be obese in childhood. It is also established from previous studies that Asian populations have higher percentage body fat at a lower body mass index compared to Caucasians. High leptin levels in cord blood have been reported to correlate with fetal adiposity at birth. Previous studies have also shown that cord blood C-peptide and insulin levels are significantly and positively correlated with birth weight. Therefore, the objective of this preliminary study was to determine the relationship between parameters of fetal insulin resistance such as leptin, C-peptide and insulin and the birth weight of the newborn in a study population in Southern Sri Lanka. Umbilical cord blood was collected from 90 newborns and the concentration of insulin, leptin, and C-peptide were measured by ELISA technique. Birth weight, length, occipital frontal, chest, hip and calf circumferences of newborns were measured and characteristics of the mother such as age, height, weight before pregnancy and weight gain were collected. The relationship between insulin, leptin, C-peptide, and anthropometrics were assessed by Pearson’s correlation while the Mann-Whitney U test was used to assess the differences in cord blood leptin, C-peptide, and insulin levels between groups. A significant difference (p < 0.001) was observed between the insulin levels of infants born LGA (18.73 ± 0.64 µlU/ml) and AGA (13.08 ± 0.43 µlU/ml). Consistently, A significant increase in concentration (p < 0.001) was observed in C-peptide levels of infants born LGA (9.32 ± 0.77 ng/ml) compared to AGA (5.44 ± 0.19 ng/ml). Cord blood leptin concentration of LGA infants (12.67 ng/mL ± 1.62) was significantly higher (p < 0.001) compared to the AGA infants (7.10 ng/mL ± 0.97). Significant positive correlations (p < 0.05) were observed among cord leptin levels and the birth weight, pre-pregnancy maternal weight and BMI between the infants of AGA and LGA. Consistently, a significant positive correlation (p < 0.05) was observed between the birth weight and the C peptide concentration. Significantly high concentrations of leptin, C-peptide and insulin levels in the cord blood of LGA infants suggest that they may be involved in regulating fetal growth. Although previous studies suggest comparatively high levels of body fat in the Asian population, values obtained in this study are not significantly different from values previously reported from Caucasian populations. According to this preliminary study, maternal pre-pregnancy BMI and weight may contribute as significant indicators of cord blood parameters of insulin resistance and possibly the birth weight of the newborn.

Keywords: large for gestational age, leptin, C-peptide, insulin

Procedia PDF Downloads 143

Authors: Joel Y. Y. Loh, Geoffrey A. Ozin, Charles A. Mims, Nazir P. Kherani

Abstract:

A major goal in the emerging field of solar fuels is to realize an ‘artificial leaf’ – a material that converts light energy in the form of solar photons into chemical energy – using CO2 as a feedstock to generate useful chemical species. Enabling this technology will allow the greenhouse gas, CO2, emitted from energy and manufacturing production exhaust streams to be converted into valuable solar fuels or chemical products. Indium Oxide (In2O3) with surface hydroxyl (OH) groups have been shown to reduce CO2 in the presence of H2 to CO with a reaction rate of 15 μmol gcat−1 h−1. The likely mechanism is via a Frustrated Lewis Pair sites heterolytically splitting H2 to be absorbed and form protonic and hydric sites that can dissociate CO2. In this study, we investigate the dependence of oxygen composition of In2O3 on the CO2 reduction rate. In2O3-x films on quartz fiber paper were DC sputtered with an Indium target and varying O2/Ar plasma mixture. OH surface groups were then introduced by immersing the In2O3-x samples in KOH. We show that hydroxylated In2O3-x reduces more CO2 than non-hydroxylated groups and that a hydroxylated and higher O2/Ar ratio sputtered In2O3-x has a higher reaction rate of 45 μmol gcat-1 h-1. We show by electrical resistivity-temperature curves that H2 is adsorbed onto the surface of In2O3 whereas CO2 itself does not affect the indium oxide surface. We also present activation and ionization energy levels of the hydroxylated In2O3-x under vacuum, CO2 and H2 atmosphere conditions.

Keywords: solar fuels, photocatalysis, indium oxide nanoparticles, carbon dioxide

Procedia PDF Downloads 226

Authors: Mustafa Cam, Nedim Ongun, Ufuk Kutluana

Abstract:

Introduction: Restless LegsSyndrome (RLS) is a common, under-recognized disorder disrupts sleep and diminishes quality of life (1). The most common conditions highly associated with RLS include renalfailure, iron and folic acid deficiency, peripheral neuropathy, pregnancy, celiacdisease, Crohn’sdiseaseandrarelymalignancy (2).Despite a clear relation between low peripheral iron and increased prevalence and severity of RLS, the prevalence and clinical significance of RLS in iron-deficientanemic populations is unknown (2). We report here a case of RLS due to iron deficiency in the setting of neuroendocrinetumor. Report of Case: A 35 year-old man was referred to our clinic with general weakness, weight loss (10 kg in 2 months)and 2-month history of uncomfortable sensations in his legs with urge to move, partially relieved by movement. The symptoms were presented very day, worsening in the evening; the discomfort forced the patient to getup and walk around at night. RLS was severe, with a score of 22 at the International RLS ratingscale. The patient had no past medical history. The patient underwent a complete set of blood analyses and the following ab normal values were found (normal limitswithinbrackets): hemoglobin 9.9 g/dl (14-18), MCV 70 fL (80-94), ferritin 3,5 ng/mL (13-150). Brain and spinemagnetic resonance imaging was normal. The patient consultated with gastroenterology clinic and gastointestinal systemendoscopy was performed for theetiology of the iron deficiency anemia. After the gastricbiopsy, results allowed us to reach the diagnosis of neuroen docrine tumor and the patient referred to oncology clinic. Discussion: The first important consideration from this case report is that the patient was referred to our clinic because of his severe RLS symptoms dramatically reducing his quality of life. However, our clinical study clearly demonstrated that RLS was not the primary disease. Considering the information available for this patient, we believe that the most likely possibility is that RLS was secondary to iron deficiency, a very well-known and established cause of RLS in theliterature (3,4). Neuroendocrine tumors (NETs) are rare epithelial neoplasms with neuroendocrine differentiation that most commonly originate in the lungs and gastrointestinal tract (5). NETs vary widely in their clinical presentation; symptoms are often nonspecific and can be mistaken for those of other more common conditions (6). 50% of patients with reported disease stage have either regional or distant metastases at diagnosis (7). Accurate and earlier NET diagnosis is the first step in shortening the time to optimal care and improved outcomes for patients (8). The most important message from this case report is that RLS symptoms can sometimes be thesign of a life-threatening condition. Conclusion: Careful and complete collection of clinical and laboratory data should be carried out in RLS patients. Inparticular, if RLS onset coincides with weight loss and iron deficieny anemia, gastricendos copy should be performed. It is known about that malignancy is a rare etiology in RLS patients and to our knowledge; it is the first case with neuro endocrine tumor presenting with RLS.

Keywords: neurology, neuroendocrine tumor, restless legs syndrome, sleep

Procedia PDF Downloads 267

Authors: R. Komsa-Penkova, G. Golemanov, G. Georgieva, K. Popovski, N. Slavov, P. Ivanov, K. Kovacheva, S. Rathee, E. Konova, A. Blajev

Abstract:

Leptin and PAI-1 are important cytokines and may play a role in the regulation of PCOS development. PCOS is frequently associated with obesity, high BMI index and consequently with increased risk of metabolic disorders. The aim of the present study was to evaluate PAI-1 levels, genetic influence of the carriage of 675 4G/5G polymorphism in PAI-1 gene and leptin as a marker of obesity in the development of PCOS. Methods: Genotyping in 84 patients with PCOS and PCO and 100 healthy control subjects to detect single nucleotide deletion 675 G in the promoter of PAI-1 gene. The present study provides evidence that SNP 4G in the PAI-1 gene is associated with early pregnancy losses in patients with polycystosis. Further to this, there is a correlation between leptin levels, PAI-1 levels and BMI in the patients with PCOS, which confirms the role of obesity as a risk factor for PCOS.

Keywords: carriage of 675 4G/5G polymorphism, PCOS, early pregnancy losses, PAI-1 gene

Procedia PDF Downloads 318

Authors: Charles Poleni Mukumba, Kahilu Kajimo-Shakantu

Abstract:

Purpose: Principles of public procurement are the foundation of good public procurement, representing best practices in delivering public services by the government and its organs. They provide guidance in the public procurement cycle to achieve the best value for public resources. Tendering stage in the procurement cycle is the most critical, as tendering information is made available to bidders. The paper evaluates the implementation of public procurement principles at the tendering stage. Design/Methodology/Approach: The research was conducted by using qualitative methods with 18 SME contractors in Lusaka as the sample. The samples are business owners and managers of purposively selected SME contractors. The collected data was analysed using thematic and content analysis. Findings: The findings indicate inconsistency in accessing information critical for tendering success by bidders. Further, the findings suggest that adjustments to technical specifications are made to suit certain preferred bidders by procuring officials. Research Limitations/Implications: The interviews were limited to SME contractors registered with the national council for construction and involved in public sector construction works in Lusaka, Zambia. Practical Implications: Implementing principles of public procurement at the tendering stage creates equal, open, and fair competition for the bidders in cost terms to deliver standardised and quality works to the public sector. Original/Value: The findings reveal how principles of public procurement play a critical role in enhancing the efficient performance of the procurement cycle at the tendering stage.

Keywords: evaluating, implementation, public procurement principles, tendering stage, SME contractors

Procedia PDF Downloads 64

Authors: Natcha Lueangapapong, Chariya Chuthapisith, Lunliya Thampratankul

Abstract:

Background: There is a need to find an appropriate tool to help healthcare providers determine sleep problems in children for early diagnosis and management. The Japanese Sleep Questionnaire for Preschoolers (JSQ-P) is a parent-reported sleep questionnaire that has good psychometric properties and can be used in the context of Asian culture, which is likely suitable for Thai children. Objectives: This study aimed to translate and validate the Japanese Sleep Questionnaire for Preschoolers (JSQ-P) into a Thai version and to evaluate factors associated with sleep disorders in preschoolers. Methods: After approval by the original developer, the cross-cultural adaptation process of JSQ-P was performed, including forward translation, reconciliation, backward translation, and final approval of the Thai version of JSQ-P (TH-JSQ-P) by the original creator. This study was conducted between March 2021 and February 2022. The TH-JSQ-P was completed by 2,613 guardians whose children were aged 2-6 years twice in 10-14 days to assess its reliability and validity. Content validity was measured by an index of item-objective congruence (IOC) and a content validity index (CVI). Face validity, content validity, structural validity, construct validity (discriminant validity), criterion validity and predictive validity were assessed. The sensitivity and specificity of the TH-JSQ-P were also measured by using a total JSQ-P score cutoff point 84, recommended by the original JSQ-P and each subscale score among the clinical samples of obstructive sleep apnea syndrome. Results: Internal consistency reliability, evaluated by Cronbach’s α coefficient, showed acceptable reliability in all subscales of JSQ-P. It also had good test-retest reliability, as the intraclass correlation coefficient (ICC) for all items ranged between 0.42-0.84. The content validity was acceptable. For structural validity, our results indicated that the final factor solution for the Th-JSQ-P was comparable to the original JSQ-P. For construct validity, age group was one of the clinical parameters associated with some sleep problems. In detail, parasomnias, insomnia, daytime excessive sleepiness and sleep habits significantly decreased when the children got older; on the other hand, insufficient sleep was significantly increased with age. For criterion validity, all subscales showed a correlation with the Epworth Sleepiness Scale (r = -0.049-0.349). In predictive validity, the Epworth Sleepiness Scale was significantly a strong factor that correlated to sleep problems in all subscales of JSQ-P except in the subscale of sleep habit. The sensitivity and specificity of the total JSQ-P score were 0.72 and 0.66, respectively. Conclusion: The Thai version of JSQ-P has good internal consistency reliability and test-retest reliability. It passed 6 validity tests, and this can be used to evaluate sleep problems in preschool children in Thailand. Furthermore, it has satisfactory general psychometric properties and good reliability and validity. The data collected in examining the sensitivity of the Thai version revealed that the JSQ-P could detect differences in sleep problems among children with obstructive sleep apnea syndrome. This confirmed that the measure is sensitive and can be used to discriminate sleep problems among different children.

Keywords: preschooler, questionnaire, validation, Thai version

Procedia PDF Downloads 73

Authors: Jenny Fairthorne, Yuka Mori, Helen Leonard

Abstract:

Background: Primary care-givers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have poorer health and quality of life (QoL) than primary care-givers (hereafter referred to as just care-givers) of typically developing children. We aimed to review original research which described factors impacting the health of care-givers of children with ASD or ID and to discuss how these factors might influence care-giver health. Methods: We searched Web of Knowledge, Medline, Scopus and Google Scholar using selections of words from each of three groups. The first comprised terms associated with ASD and ID and included autism, pervasive development disorder, intellectual disability, mental retardation, disability, disabled, Down and Asperger. The second included terms related to health such as depression, physical, mental, psychiatric, psychological and well-being. The third was terms related to care-givers such as mother, parent and care-giver. We included an original paper in our review if it was published between 1st January 1990 and 31st December, 2016, described original research in a peer-reviewed journal and was written in English. Additional criteria were that the research used a study population of 15 persons or more; described a risk or protective factor for the health of care-givers of a child with ASD, ID or a sub-type (such as ASD with ID or Down syndrome). Using previous research, we developed a simple and objective five-level tool to assess the strength of evidence provided by the reviewed papers. Results: We retained 33 papers. Factors impacting primary care-giver health included child behaviour, level of support, socio-economic status (SES) and diagnostic issues. Challenging child behaviour, the most commonly identified risk factor for poorer care-giver health and QoL was reported in ten of the studies. A higher level of support was associated with improved care-giver health and QoL. For example, substantial evidence indicated that family support reduced care-giver burden in families with a child with ASD and that family and neighbourhood support was associated with improved care-giver mental health. Higher socio-economic status (SES) was a protective factor for care-giver health and particularly maternal health. Diagnostic uncertainty and an unclear prognosis are factors which can cause the greatest concern to care-givers of children with ASD and those for whom a cause of their child’s ID has not been identified. We explain how each of these factors might impact caregiver health and how they might act differentially in care-givers of children with different types of ASD or ID (such as Down syndrome and ASD without ID). Conclusion: Care-givers of children with ASD may be more likely to experience many risk factors and less likely to experience the protective factors we identified for poorer mental health. Interventions to reduce risk factors and increase protective factors could pave the way for improved care-giver health. For example, workshops to train care-givers to better manage challenging child behaviours and earlier diagnosis of ASD (and particularly ASD without ID) would seem likely to improve care-giver well-being. Similarly, helping to expand support networks might reduce care-giver burden and stress leading to improved health.

Keywords: autism, caregivers, health, intellectual disability, mothers, review

Procedia PDF Downloads 144

Authors: Moushira Zaki, Wafaa Ezzat, Yasser Elhosary, Omnia Saleh

Abstract:

Nonalcoholic fatty liver disease (NAFLD) has increased in conjunction with obesity. The accuracy of risk factors for detecting NAFLD in obese adolescents has not undergone a formal evaluation. The aim of this study was to evaluate predictors of NAFLD among Egyptian female obese adolescents. The study included 162 obese female adolescents. All were subjected to anthropometry, biochemical analysis and abdominal ultrasongraphic assessment. Metabolic syndrome (MS) was diagnosed according to the IDF criteria. Significant association between presence of MS and NAFLD was observed. Obese adolescents with NAFLD had significantly higher levels of ALT, triglycerides, fasting glucose, insulin, blood pressure and HOMA-IR, whereas decreased HDL-C levels as compared with obese cases without NAFLD. Receiver–operating characteristic (ROC) curve analysis shows that ALT is a sensitive predictor for NAFLD, confirming that ALT can be used as a marker of NAFLD.

Keywords: obesity, NAFLD, predictors, adolescents, Egyptians, risk factors, prevalence

Procedia PDF Downloads 365

Authors: Francis O. Iyoha, Daniel E. Gberevbie, Charles T. Iruonagbe, Matthew E. Egharevba

Abstract:

Cost of governance in Nigeria has become a challenge to development and concern to practitioners and scholars alike in the field of business and social science research. It has been observed that it takes 70 percent of the nation’s revenue to maintain less than 20 percent of the Nigerian population that are public servants. Furthermore, it has been observed that on a consistent yearly basis, the recurrent expenditure of government from the national budget keeps rising, while capital expenditure meant for development keeps falling. The implication is that development is stagnated in the country. For instance, in the 2010 national budget of NGN4.60tn or USD28.75b, only NGN1.80tn or USD11.15b was set aside for capital expenditure. Also, in the 2013 national budget of NGN4.92tn or USD30.75b, only NGN1.50tn or USD9.38b was set aside for capital expenditure. Therefore, with the analysis of secondary data, this study examined the reasons for the high cost of governance in Nigeria. It observed that the high cost of governance in the country is in the interest of the ruling class, arising from their unethical behaviour – corrupt practices and the poor management of public resources. As a result, the study recommends the need to intensify the war against corruption and mismanagement of public resources by government officials as possible solution to overcome the high cost of governance in Nigeria. This could be achieved by strengthening the constitutional powers of the various anti-corruption agencies in the area of arrest, investigation and prosecution of offenders without the interference of the executive arm of government either at the local, state or federal level.

Keywords: cost of governance, capital expenditure, recurrent expenditure, unethical behavior, Nigeria

Procedia PDF Downloads 322

Authors: Charles Q. Yu, Victoria H. Fan, Ahmed F. Al-Qahtani, Ibraim Viera

Abstract:

Introduction: Over 12 million people are blind due to opacity of the cornea, the clear tissue forming the front of the eye. Current methods use plastic implants to produce a clear optical pathway into the eye but are limited by a high rate of complications. New implants utilizing completely inside-the-eye projection technology can overcome blindness due to scarring of the eye by producing images on the retina without need for a clear optical pathway into the eye and may be free of the complications of traditional treatments. However, the interior of the eye is a challenging location for the design of optical focusing systems which can produce a sufficiently high quality image. No optical focusing systems have previously been characterized for this purpose. Methods: 3 optical focusing systems for intraocular (inside the eye) projection were designed and then modeled with ray tracing software, including a pinhole system, a planoconvex, and an achromatic system. These were then constructed using off-the-shelf components and tested in the laboratory. Weight, size, magnification, depth of focus, image quality and brightness were characterized. Results: Image quality increased with complexity of system design, as did weight and size. A dual achromatic doublet optical system produced the highest image quality. The visual acuity equivalent achieved with this system was better than 20/200. Its weight was less than that of the natural human crystalline lens. Conclusions: We demonstrate for the first time that high quality images can be produced by optical systems sufficiently small and light to be implanted within the eye.

Keywords: focusing, projection, blindness, cornea , achromatic, pinhole

Procedia PDF Downloads 114

Authors: Sergei Kosarev

Abstract:

Wrong treatment tactics for hand and wrist sport-related injuries can lead to the inability to play sports in the future. It is especially important for professional athletes. The members of the Russian Olympic Team are treated in our hospital -Federal Clinical Research Center (Moscow). For their treatment, we use minimally invasive methods such as wrist arthroscopy and also orthobiologics procedures. In 2022 we had cases with scaphoid fracture and TFCC injuries. In all the cases, we were using the arthroscopy technic for treatment. The scaphoid fracture was fixed by K-wires with free bone grafting. For TFCC injures we used transossal sutures. Rehabilitation started the next day after surgery. Rehabilitation included hand therapy and physiotherapy. All athletes returned to the sport after 8-12 weeks after surgery. One of them had pain in the wrist after 12 weeks after surgery, not more than 4 point VAS. Pain syndrome was blocked after 2 PRP injections in the ulnar side of the wrist.

Keywords: sport trauma, wrist arthroscopy, wrist pain, scaphoid fracture

Procedia PDF Downloads 83

Authors: Zeev Wiesman, Paula Berman, Nitzan Meiri, Charles Linder

Abstract:

Supramolecular chemistry refers to the domain of chemistry beyond that of molecules and focuses on the chemical systems made up of a discrete number of assembled molecular sub units or components. Biodiesel components self arrangements is closely related/affect their physical properties in combustion systems and emission. Due to technological difficulties, knowledge regarding the molecular packing of FAMEs (biodiesel) in the liquid phase is limited. Spectral tools such as X-ray and NMR are known to provide evidences related to molecular structure organization. Recently, it was reported by our research group that using 1H Time Domain NMR methodology based on relaxation time and self diffusion coefficients, FAMEs clusters with different motilities can be accurately studied in the liquid phase. Head to head dimarization with quasi-smectic clusters organization, based on molecular motion analysis, was clearly demonstrated. These findings about the assembly/packing of the FAME components are directly associated with fluidity/viscosity of the biodiesel. Furthermore, these findings may provide information of micro/nano-particles that are formed in the delivery and injection system of various combustion systems (affected by thermodynamic conditions). Various relevant parameters to combustion such as: distillation/Liquid Gas phase transition, cetane number/ignition delay, shoot, oxidation/NOX emission maybe predicted. These data may open the window for further optimization of FAME/diesel mixture in terms of combustion and emission.

Keywords: supermolecular chemistry, FAMEs, liquid phase, fluidity, LF-NMR

Procedia PDF Downloads 323

Authors: Erwin, Cheng-Cheng Chen, Charles J. Salim

Abstract:

One of the method to solve the lateral torsional buckling (LTB) problem is by using side plates to increased the buckling resistance of the beam. Some modifications in designing the side plates are made in this study to simplify the construction in the field and reduce the cost. At certain region, side plates are not added: (1) At the beam end to preserve some spaces for bolt installation, but the beam is strengthened by adding cover plate at both flanges and (2) at the middle span of the beam where the moment is smaller. Three small scale full span beam specimens are tested under cyclic loading to investigate the LTB resistant and the ductility of the proposed design method. Test results show that the LTB deformation can be effectively suppressed and very high ductility level can be achieved. Following the test, a finite element analysis (FEA) model is established and is verified using the test results. An intensive parametric study is conducted using the established FEA model. The analysis reveals that the length of side plates is the most important parameter determining the performance of the beam and the required side plates length is determined by some parameters which are (1) beam depth to flange width ratio, (2) beam slenderness ratio (3) strength and thickness of the side plates, (4) compactness of beam web and flange, and (5) beam yield strength. At the end of the paper, a design formula to calculate the required side plate length is suggested.

Keywords: cover plate, earthquake resistant design, lateral torsional buckling, side plate, steel structure

Procedia PDF Downloads 155

Authors: Isaac Mugume, Charles Basalirwa, Daniel Waiswa, Mary Nsabagwa, Triphonia Jacob Ngailo, Joachim Reuder, Sch¨attler Ulrich, Musa Semujju

Abstract:

The Numerical weather prediction (NWP) models are considered powerful tools for guiding quantitative rainfall prediction. A couple of NWP models exist and are used at many operational weather prediction centers. This study considers two models namely the Consortium for Small–scale Modeling (COSMO) model and the Weather Research and Forecasting (WRF) model. It compares the models’ ability to predict rainfall over Uganda for the period 21st April 2013 to 10th May 2013 using the root mean square (RMSE) and the mean error (ME). In comparing the performance of the models, this study assesses their ability to predict light rainfall events and extreme rainfall events. All the experiments used the default parameterization configurations and with same horizontal resolution (7 Km). The results show that COSMO model had a tendency of largely predicting no rain which explained its under–prediction. The COSMO model (RMSE: 14.16; ME: -5.91) presented a significantly (p = 0.014) higher magnitude of error compared to the WRF model (RMSE: 11.86; ME: -1.09). However the COSMO model (RMSE: 3.85; ME: 1.39) performed significantly (p = 0.003) better than the WRF model (RMSE: 8.14; ME: 5.30) in simulating light rainfall events. All the models under–predicted extreme rainfall events with the COSMO model (RMSE: 43.63; ME: -39.58) presenting significantly higher error magnitudes than the WRF model (RMSE: 35.14; ME: -26.95). This study recommends additional diagnosis of the models’ treatment of deep convection over the tropics.

Keywords: comparative performance, the COSMO model, the WRF model, light rainfall events, extreme rainfall events

Procedia PDF Downloads 243

Authors: Mustafa M. Donma, Orkide Donma

Abstract:

Cardiovascular pathology is one of the expected consequences of excessive fat gain. The role of zinc in thyroid hormone metabolism is an important matter. The concentrations of both thyroid stimulating hormone (TSH) and zinc are subject to variation in obese individuals. Zinc exhibits protective effects on cardiovascular health and is inversely correlated with cardiovascular markers in childhood obesity. The association between subclinical hypothyroidism (SCHT) and metabolic disorders is under investigation due to its clinical importance. Underactive thyroid gland causes high TSH levels. Subclinical hypothyroidism is defined as the elevated serum TSH levels in the presence of normal free thyroxin (T4) concentrations. The aim of this study was to evaluate the associations between TSH levels and zinc concentrations in morbid obese (MO) children exhibiting SCHT. The possibility of using the probable association between these parameters was also evaluated for the discrimination of metabolic syndrome positive (MetS+) and metabolic syndrome negative (MetS-) groups. Forty-two children were present in each group. Informed consent forms were obtained. Institutional Ethics Committee approved the study protocol. Tables prepared by World Health Organization were used for the definition of MO children. Children, whose age- and sex-dependent body mass index percentile values were above 99, were defined as MO. Children with at least two MetS components were included in MOMetS+ group. Elevated systolic/diastolic blood pressure values, increased fasting blood glucose, triglycerides (TRG)/decreased high density lipoprotein-cholesterol (HDL-C) concentrations in addition to central obesity were listed as MetS components. Anthropometric measures were recorded. Routine biochemical analyses were performed. Thirteen and fifteen children had SCHT in MOMetS- and MOMetS+ groups, respectively. Statistical analyses were performed. p<0.05 was accepted as statistically significant. In MOMetS- and MOMetS+ groups, TSH levels were 4.1±2.9 mU/L and 4.6±3.1 mU/L, respectively. Corresponding values for SCHT cases in these groups were 7.3±3.1 mU/L and 8.0±2.7 mU/L. Free T4 levels were within normal limits. Zinc concentrations were negatively correlated with TSH levels in both groups. The significant negative correlation calculated in MOMetS+ group (r= -0.909; p<0.001) was much stronger than that found in MOMetS- group (r= -0.706; p<0.05). This strong correlation (r= -0.909; p<0.001) calculated for cases with SCHT in MOMetS+ group was much lower (r= -0.793; p<0.001) when all MOMetS+ cases were considered. Zinc is closely related to T4 and TSH therefore, it participates in thyroid hormone metabolism. Since thyroid hormones are required for zinc absorption, hypothyroidism can lead to zinc deficiency. The presence of strong correlations between TSH and zinc in SCHT cases found in both MOMetS- and MOMetS+ groups pointed out that MO children were under the threat of cardiovascular pathologies. The detection of the much stronger correlation in MOMetS+ group in comparison with the correlation found in MOMetS- group was the indicator of greater cardiovascular risk due to the presence of MetS. In MOMetS+ group, correlation in SCHT cases found higher than correlation calculated for all cases confirmed much higher cardiovascular risk due to the contribution of SCHT.

Keywords: cardiovascular risk, children, morbid obesity, subclinical hypothyroidism, zinc

Procedia PDF Downloads 61

Authors: Saja M. Nabat Al-Ajrash, Charles Browning, Rose Eckerle, Li Cao, Robyn L. Bradford, Donald Klosterman

Abstract:

An additive manufacturing process and subsequent pyrolysis cycle were used to fabricate SiC matrix/carbon fiber hybrid composites. The matrix was fabricated using a mixture of preceramic polymer and acrylate monomers, while polyacrylonitrile (PAN) precursor was used to fabricate fibers via electrospinning. The precursor matrix and reinforcing fibers at 0, 2, 5, or 10 wt% were printed using digital light processing, and both were simultaneously pyrolyzed to yield the final ceramic matrix composite structure. After pyrolysis, XRD and SEAD analysis proved the existence of SiC nanocrystals and turbostratic carbon structure in the matrix, while the reinforcement phase was shown to have a turbostratic carbon structure similar to commercial carbon fibers. Thermogravimetric analysis (TGA) in the air up to 1400 °C was used to evaluate the oxidation resistance of this material. TGA results showed some weight loss due to oxidation of SiC and/or carbon up to about 900 °C, followed by weight gain to about 1200 °C due to the formation of a protective SiO2 layer. Although increasing carbon fiber content negatively impacted the total mass loss for the first heating cycle, exposure of the composite to second-run air revealed negligible weight chance. This is explained by SiO2 layer formation, which acts as a protective film that prevents oxygen diffusion. Oxidation of SiC and the formation of a glassy layer has been proven to protect the sample from further oxidation, as well as provide healing of surface cracks and defects, as revealed by SEM analysis.

Keywords: silicon carbide, carbon fibers, additive manufacturing, composite

Procedia PDF Downloads 57

Authors: Ehsan Atefi, Michael Grigware

Abstract:

Respiratory failure secondary to surfactant deficiency resulting from respiratory distress syndrome is considered one major cause of morbidity in preterm infants. Surfactant replacement treatment (SRT) is considered an effective treatment for this disease. Here, we introduce an AI-mediated approach for estimating the distribution of surfactant in the lung airway of a newborn infant during SRT. Our approach implements machine learning to precisely estimate the splitting ratio of a liquid drop during bifurcation at different injection velocities and patient orientations. This technique can be used to calculate the surfactant residue remaining on the airway wall during the surfactant injection process. Our model works by minimizing the pressure drop difference between the two airway branches at each generation, subject to mass and momentum conservation. Our platform can be used to generate feedback for immediately adjusting the velocity of injection and patient orientation during SRT.

Keywords: respiratory failure, surfactant deficiency, surfactant replacement, machine learning

Procedia PDF Downloads 107

Authors: Neha Tiwari

Abstract:

Rights are prerequisite for individuals to pursue their aims and enrich themselves. Laski has said rights are, ‘conditions of social life without which no man can seek himself at his best.’ However with superior technology, rights of many individuals are at stake as well. One such sufferer is the babies born out of the practice of commercial surrogacy. Commercial surrogacy has emerged as the most viable option for the childless couples. The practice has garnered lot of debate in both academia and media. Some argue for a complete ban and some for strict rules and regulation. Most of the time the debate is regarding the rights of the surrogate, something which we cannot ignore. Equally important are the rights of the children born out of such arrangements. However, not much attention is being paid to them. Recently, a controversy emerged when a surrogate gave birth to twins. One of the babies, Gammy born with down syndrome was left behind by the couple. Gammy could die because his poor Thai surrogate mother may not be able to pay for his treatment. Even if he survives, he will never know his twin sister as her identity would never be disclosed. This is just one of many such cases where the future of such babies is being played with. If the rights of these children are not taken care of many of them will have to bear the brunt of society's ignorance and perhaps live with a scar which won't heal in their lifetime.

Keywords: babies, commercial surrogacy, rights, technology

Procedia PDF Downloads 273

Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

Abstract:

Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

Procedia PDF Downloads 72