Search results for: congenital diabetics

Authors: Yael Wolff Sagy, Yiska Loewenberg Weisband, Vered Kaufman Shriqui, Michal Krieger, Arie Ben Yehuda, Ronit Calderon Margalit

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Background: Obesity is both a risk factor and common comorbidity of diabetes. Obesity impedes the achievement of glycemic control, and enhances damage caused by hyperglycemia to blood vessels; thus it increases diabetes-related complications. This study assessed the prevalence of obesity and morbid obesity among Israeli adults with diabetes, and estimated disparities associated with sex and socioeconomic position (SEP). Methods: A cross-sectional study was conducted in the setting of the Israeli National Program for Quality Indicators in Community Healthcare. Data on all the Israeli population is retrieved from electronic medical records of the four health maintenance organizations (HMOs). The study population included all Israeli patients with diabetes aged 20-64 with documented body mass index (BMI) in 2016 (N=180,451). Diabetes was defined as the existence of one or more of the following criteria: (a) Plasma glucose level >200 mg% in at least two tests conducted at least one month apart in the previous year; (b) HbA1c>6.5% at least once in the previous year (c) at least three prescriptions of diabetes medications were dispensed during the previous year. Two measures were included: the prevalence of obesity (defined as last BMI≥ 30 kg/m2 and <35 kg/m2) and the prevalence of morbid obesity (defined as last BMI≥ 35 kg/m2) in individuals aged 20-64 with diabetes. The cut-off value for morbid obesity was set in accordance with the eligibility criteria for bariatric surgery in diabetics. Data were collected by the HMOs and aggregated by age, sex and SEP. SEP was based on statistical areas ranking by the Israeli Central Bureau of Statistics and divided into 4 categories, ranking from 1 (lowest) to 4 (highest). Results: BMI documentation among adults with diabetes was 84.9% in 2016. The prevalence of obesity in the study population was 30.5%. Although the overall rate was similar in both sexes (30.8% in females, 30.3% in males), SEP disparities were stronger in females (32.7% in SEP level 1 vs. 27.7% in SEP level 4; 18.1% relative difference) compared to males (30.6% in SEP level 1 vs. 29.3% in SEP level 4; 4.4% relative difference). The overall prevalence of morbid obesity in this population was 20.8% in 2016. The rate among females was almost double compared to the rate in males (28.1% and 14.6%, respectively). In both sexes, the prevalence of morbid obesity was strongly associated with lower SEP. However, in females, disparities between SEP levels were much stronger (34.3% in SEP level 1 vs. 18.7% in SEP level 4; 83.4% relative difference) compared to SEP-disparities in males (15.7% in SEP level 1 vs. 12.3% in SEP level 4; 27.6% relative difference). Conclusions: The overall prevalence of BMI≥ 30 kg/m2 among adults with diabetes in Israel exceeds 50%; and the prevalence of morbid obesity suggests that 20% meet the BMI-criteria for bariatric surgery. Prevalence rates show major SEP- and sex-disparities; especially strong SEP disparities in morbid obesity among females. These findings highlight the need for greater consideration of different population groups when implementing interventions.

Keywords: diabetes, health disparities, health policy, obesity, socio-economic position

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Authors: Daniel Aberdam

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Haploinsufficiency of PAX6 in humans is the main cause of congenital aniridia, a rare eye disease characterized by reduced visual acuity. Patients have also progressive disorders including cataract, glaucoma and corneal abnormalities making their condition very challenging to manage. Aniridia-related keratopathy (ARK), caused by a combination of factors including limbal stem-cell deficiency, impaired healing response, abnormal differentiation, and infiltration of conjunctival cells onto the corneal surface, affects up to 95% of patients. It usually begins in the first decade of life resulting in recurrent corneal erosions, sub-epithelial fibrosis with corneal decompensation and opacification. Unfortunately, current treatment options for aniridia patients are currently limited. Although animal models partially recapitulate this disease, there is no in vitro cellular model of AKT needed for drug/therapeutic tools screening and validation. We used genome editing (CRISPR/Cas9 technology) to introduce a nonsense mutation found in patients into one allele of the PAX6 gene into limbal stem cells. Resulting mutated clones, expressing half of the amount of PAX6 protein and thus representative of haploinsufficiency were further characterized. Sequencing analysis showed that no off-target mutations were induced. The mutated cells displayed reduced cell proliferation and cell migration but enhanced cell adhesion. Known PAX6 targets expression was also reduced. Remarkably, addition of soluble recombinant PAX6 protein into the culture medium was sufficient to activate endogenous PAX6 gene and, as a consequence, rescue the phenotype. It strongly suggests that our in vitro model recapitulates well the epithelial defect and becomes a powerful tool to identify drugs that could rescue the corneal defect in patients. Furthermore, we demonstrate that the homeotic transcription factor Pax6 is able to be uptake naturally by recipient cells to function into the nucleus.

Keywords: Pax6, crispr/cas9, limbal stem cells, aniridia, gene therapy

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Authors: Anamika Choudhary, Neha Qurrat Ain

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Background: Congenital agenesis of uterine cervix is a rare anomaly often associated with partial or complete agenesis of vagina. Here is a case report of a 14 year old girl who presented with primary amenorrhea and cyclical abdominal pain since last one year with suprapubic mass palpable. On examination complete absence of a vagina was found, and ultrasound along with magnetic resonance imaging (MRI) suggested cervicovaginal agenesis associated with cryptomenorrhea, which resulted in hematometra and b/l hematosalpinx with pelvic endometriosis. After proper counseling regarding anastomosis failure and the need for future laprotomy or hysterectomy, the patient planned for laparoscopic uterovaginal anastomosis with modified McIndoe vaginoplasty with split skin graft. Case Summary: Chief complaint: The 14 year old girl presented with primary amenorrhea and cyclical abdominal pain. Diagnosis:On history, examination and investigations we made differential diagnoses of cervicovaginal agenesis, cervicovaginal atresia. Post operatively, we concluded it’s a cervicovaginal agenesis. Intervention: Laparoscopic uterovaginal anastomosis was done, and neovagina was created using split skin graft from the thigh and silicone stent. The graft was kept patent, and restenosis was prevented using a dental mould as vaginal dilator. Outcome: Postoperatively 1 year follow-up has been done. We have observed successful uterovaginal anastomosis and good uptake of graft. We also observed the resumption of normal menstrual bleeding. Currently, there has been no restenosis, abnormal vaginal discharge and decreased dysmenorrhea. Conclusion: Laparoscopic-assisted uterovaginal anastomosis can be the treatment of choice in patients with cervical agenesis and atresia instead of hysterectomy, thereby preserving the reproductive function. This conservative approach has better outcomes, as stated in the procedure below. The procedure is successful insofar as the resumption of menstrual function. However, long-term reproductive outcomes, progression of endometriosis, functioning of fallopian tubes, and sexual life in these girls will require further follow-up.

Keywords: cervicovaginal agenesis, uterovaginal anastomosis, dental mould, silicon stent

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Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

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Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

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Authors: Doaa Alhaboby

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Behavior change is a complex process that often requires ongoing support and guidance. Telecoaching programs have emerged as effective tools in facilitating behavior change by providing personalized support remotely. This abstract explores the lessons learned from a randomized controlled trial (RCT) evaluation of a telecoaching program focused on behavior change for Diabetics and discusses strategies for implementing these lessons to overcome the challenge of making physical activity a habit. The telecoaching program involved participants engaging in regular coaching sessions delivered via phone calls. These sessions aimed to address various aspects of behavior change, including goal setting, self-monitoring, problem-solving, and social support. Over the course of the program, participants received personalized guidance tailored to their unique needs and preferences. One of the key lessons learned from the RCT was the importance of engagement, readiness to change and the use of technology. Participants who set specific, measurable, attainable, relevant, and time-bound (SMART) goals were more likely to make sustained progress toward behavior change. Additionally, regular self-monitoring of behavior and progress was found to be instrumental in promoting accountability and motivation. Moving forward, implementing the lessons learned from the RCT can help individuals overcome the hardest part of behavior change: making physical activity a habit. One strategy is to prioritize consistency and establish a regular routine for physical activity. This may involve scheduling workouts at the same time each day or week and treating them as non-negotiable appointments. Additionally, integrating physical activity into daily life routines and taking into consideration the main challenges that can stop the process of integrating physical activity routines into the daily schedule can help make it more habitual. Furthermore, leveraging technology and digital tools can enhance adherence to physical activity goals. Mobile apps, wearable activity trackers, and online fitness communities can provide ongoing support, motivation, and accountability. These tools can also facilitate self-monitoring of behavior and progress, allowing individuals to track their activity levels and adjust their goals as needed. In conclusion, telecoaching programs offer valuable insights into behavior change and provide strategies for overcoming challenges, such as making physical activity a habit. By applying the lessons learned from these programs and incorporating them into daily life, individuals can cultivate sustainable habits that support their long-term health and well-being.

Keywords: lifestyle, behavior change, physical activity, chronic conditions

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Authors: Lim Pey Huan

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In the second half of the 19th century, Vietnam has long been influenced by Han culture, so there are many similarities in religion and folk beliefs. Even after the acceptance process of the Catholic Church introduced from Europe is quite similar. Therefore, in the spiritual life of Vietnamese civil society, Confucianism, Buddhism, Taoism, Christianity, Islam, and folk beliefs can be said to be the main trend, but in the twentieth century, two indigenous new religions were born: Caodai and He Hao Jiao, both of which are produced and developed in the south, each of which has millions of believers and become important Vietnamese religions. Their political participation has a major impact on the development of the Republic of Vietnam, and their fate is also in the north and south. Significant changes have taken place after reunification. Caodai was later approved by the colonial authorities and became the third largest religion in Vietnam. The teachings of Caodai teach the ideas of the major religions of the world. The classics used in the teachings also contain important theories of various religions, with particular emphasis on the comprehensiveness of the three sects of Confucianism, Buddhism, and Taoism. The obvious manifestation lies in the interpretation of the important proposition of 'opening the three religions and returning to the five branches.' The full name of Caodaism is 'Da Dao San Qi Pu Du Gao Tai Jiao'. This name coincides with the 'Longhua Club' and the 'San Qi Mo Jie' idea and the consistent central idea. The emerging road of Caodai advocates to lead the sentient beings back to their original missions; the sentient beings will be centered on people, and the nature of the talks is nothing more than the original mission and standard. There are many opinions about the introduction of Caodaism into southern Vietnam. Caodai believers believe that Caodaism is an emerging new religion in Vietnam. If we further explore the teachings and religious rituals of Caodai, it is not difficult to find that many Chinese sects have been introduced to Vietnam. Some of the colors can be discussed from the spread and influence of Congenital Road in Vietnam. This article will present the author's analysis of the actual process of tutoring in Vietnam's Caodai, and then compare it with the consistent religious experience, trying to explore the Yi-Kuan-Tao and consistent Yi-Kuan-Tao rituals, religious organization, religious teachings, religious life care, and Funeral rituals and other comparative studies.

Keywords: Vietnam, Caodaism, Yi-Kuan-Tao, religious rituals

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Authors: Sushma Tejwani, Shoruba Dinakaran, Rupa Rokhade, K. Bhujang Shetty

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Introduction and aim: One of the major causes for failure of trabeculectomy is fibrosis and scarring of subconjunctival tissue around the bleb, and hence intra operative usage of anti-fibrotic agents like Mitomycin C (MMC) has become very popular. However, the long term effects of MMC like thin, avascular bleb, hypotony, bleb leaks and late onset endophthalmitis cannot be ignored, and may preclude its usage in routine trabeculectomy. In this particular study we aim to study the outcomes of trabeculectomy with and without MMC in uncomplicated glaucoma patients. Methods: Retrospective study of series of patients that underwent trabeculectomy with or without cataract surgery in glaucoma department of a tertiary eye care centre by a single surgeon for primary open angle glaucoma (POAG), angle closure glaucoma (PACG), Pseudoexfoliation glaucoma (PXF glaucoma). Patients with secondary glaucoma, juvenile and congenital glaucoma were excluded; also patients undergoing second trabeculectomy were excluded. The outcomes were studied in terms of IOP control at 1 month, 6 months, and 1 year and were analyzed separately for surgical outcomes with and without MMC. Success was considered if IOP was < 16 mmHg on applanation tonometry. Further, the necessity of medication, 5 fluorouracil (5FU) postoperative injections, needling post operatively was noted. Results: Eighty nine patient’s medical records were reviewed, of which 58 patients had undergone trabeculectomy without MMC and 31 with MMC. Mean age was 62.4 (95%CI 61- 64), 34 were females and 55 males. MMC group (n=31): Preoperative mean IOP was 21.1mmHg (95% CI: 17.6 -24.6), and 22 patients had IOP > 16. Three out of 33 patients were on single medication and rests were on multiple drugs. At 1 month (n=27) mean IOP was 12.4 mmHg (CI: 10.7-14), and 31/33 had success. At 6 months (n=18) mean IOP was 13mmHg (CI: 10.3-14.6) and 16/18 had good outcome, however at 1 year only 11 patients were available for follow up and 91% (10/11) had success. Overall, 3 patients required medication and one patient required postoperative injection of 5 FU. No MMC group (n=58): Preoperative mean IOP was 21.9 mmHg (CI: 19.8-24.2), and 42 had IOP > 16 mmHg. 12 out of 58 patients were on single medication and rests were on multiple drugs. At 1 month (n=52) mean IOP was14.6mmHg (CI: 13.2-15.9), and 45/ 58 had IOP < 16mmHg. At 6 months (n=31) mean IOP was 13.5 mmHg (CI: 11.9-15.2) and 26/31 had success, however at 1 year only 23 patients came for follow up and of these 87% (20/23) patients had success. Overall, 1 patient required needling, 5 required 5 FU injections and 5 patients required medication. The success rates at each follow up visit were not significantly different in both the groups. Conclusion: Intra-operative MMC usage may not be required in all patients undergoing trabeculectomy, and the ones without MMC also have fairly good outcomes in primary glaucoma.

Keywords: glaucoma filtration surgery, mitomycin C, outcomes of trabeculectomy, wound modulation

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Authors: Franck Acho

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This is a chronic metabolic disorder which is a fast-growing global problem with a huge social, health, and economic consequences. It is estimated that in 2010 there were globally 285 million people (approximately 6.4% of the adult population) suffering from this disease. This number is estimated to increase to 430 million in the absence of better control or cure. An ageing population and obesity are two main reasons for the increase. Diabetes mellitus is a chronic heterogeneous metabolic disorder with a complex pathogenesis. It is characterized by elevated blood glucose levels or hyperglycemia, which results from abnormalities in either insulin secretion or insulin action or both. Hyperglycemia manifests in various forms with a varied presentation and results in carbohydrate, fat, and protein metabolic dysfunctions. Long-term hyperglycemia often leads to various microvascular and macrovascular diabetic complications, which are mainly responsible for diabetes-associated morbidity and mortality. Hyperglycemia serves as the primary biomarker for the diagnosis of diabetes as well. Furthermore, it has been shown that almost 50% of the putative diabetics are not diagnosed until 10 years after onset of the disease, hence the real prevalence of global diabetes must be astronomically high. This study was conducted in a locality to access the level of knowledge, awareness and risk factors associated with people leaving with diabetes mellitus. A month before the screening was to be conducted, a health screening in some selected churches and on the local community radio as well as on relevant WhatsApp groups were advertised. A general health talk was delivered by the head of the screening unit to all attendees who were all educated on the procedure to be carried out with benefits and any possible discomforts after which the attendee’s consent was obtained. Evaluation of the participants for any leads to the diabetes selected for the screening was done by taking adequate history and physical examinations such as excessive thirst, increased urination, tiredness, hunger, unexplained weight loss, feeling irritable or having other mood changes, having blurry vision, having slow-healing sores, getting a lot of infections, such as gum, skin and vaginal infections. Out of the 94 participants the finding show that 78 were females and 16 were males, 70.21% of participants with diabetes were between the ages of 60-69yrs.The study found that only 10.63% of respondents declared a good level of knowledge of diabetes. Out of 3 symptoms of diabetes analyzed in this study, high blood sugar (58.5%) and chronic fatigue (36.17%) were the most recognized. Out of 4 diabetes risk factors analyzed in this study, obesity (21.27%) and unhealthy diet (60.63%) were the most recognized diabetes risk factors, while only 10.6% of respondents indicated tobacco use. The diabetic foot was the most recognized diabetes complication (50.57%), but some the participants indicated vision problems (30.8%),or cardiovascular diseases (20.21%) as diabetes complications.

Keywords: diabetes mellitus, non comunicable disease, general health talk, hyperglycemia

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Authors: Ali Kassem, Yhea Kishik, Ali Hassan, Mohamed Abdelwahab

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Introduction: Accelerated coronary and peripheral vascular atherosclerosis is one of the most common and chronic complications of diabetes mellitus. A recent aspect of coronary artery disease in this condition is its silent nature. The aim of the work: Detection of the prevalence of silent myocardial ischemia (SMI) in Upper Egypt type 2 diabetic males and to select male diabetic population who should be screened for SMI. Patients and methods: 100 type 2 diabetic male patients with a negative history of angina or anginal equivalent symptoms and 30 healthy control were included. Full medical history and thorough clinical examination were done for all participants. Fasting and post prandial blood glucose level, lipid profile, (HbA1c), microalbuminuria, and C-reactive protein were done for all participants Resting ECG, trans-thoracic echocardiography, treadmill exercise ECG, myocardial perfusion imaging were done for all participants and patients positive for one or more NITs were subjected for coronary angiography. Results Twenty nine patients (29%) were positive for one or more NITs in the patients group compared to only one case (3.3%) in the controls. After coronary angiography, 20 patients were positive for significant coronary artery stenosis in the patients group, while it was refused to be done by the patient in the controls. There were statistical significant difference between the two groups regarding, hypertension, dyslipidemia and obesity, family history of DM and IHD with higher levels of microalbuminuria, C-reactive protein, total lipids in patient group versus controls According to coronary angiography, patients were subdivided into two subgroups, 20 positive for SMI (positive for coronary angiography) and 80 negative for SMI (negative for coronary angiography). No statistical difference regarding family history of DM and type of diabetic therapy was found between the two subgroups. Yet, smoking, hypertension, obesity, dyslipidemia and family history of IHD were significantly higher in diabetics positive versus those negative for SMI. 90% of patients in subgroup positive for SMI had two or more cardiac risk factors while only two patients had one cardiac risk factor (10%). Uncontrolled DM was detected more in patients positive for SMI. Diabetic complications were more prevalent in patients positive for SMI versus those negative for SMI. Most of the patients positive for SMI have DM more than 5 years duration. Resting ECG and resting Echo detected only 6 and 11 cases, respectively, of the 20 positive cases in group positive for SMI compared to treadmill exercise ECG and myocardial perfusion imaging that detected 16 and 18 cases respectively, Conclusion: Type 2 diabetic male patients should be screened for detection of SMI when aged above 50 years old, diabetes duration is more than 5 years, presence of two or more cardiac risk factors and/or patients suffering from one or more of the chronic diabetic complications. CRP, is an important parameter for selection of type 2 diabetic male patients who should be screened for SMI. Non invasive cardiac tests are reliable for screening of SMI in these patients in our locality.

Keywords: C-reactive protein, Silent myocardial ischemia, Stress tests, type 2 DM

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Authors: Alyaa Farouk Ibrahim, Gehan ElSayed, Ola Mamdouh, Nazek AbdelGhany

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Background: Primary health care (PHC) can be considered the first contact between the patient and the health care system. It includes all the basic health care services to be provided to the community. Patient's satisfaction regarding health care has often improved the provision of care, also considered as one of the most important measures for evaluating the health care. Objective: This study aims to identify patient’s satisfaction with services provided at the primary health care settings in Alexandria. Setting: Seven primary health care settings representing the seven zones of Alexandria governorate were selected randomly and included in the study. Subjects: The study comprised 386 patients attended the previously selected settings at least twice before the time of the study. Tools: Two tools were utilized for data collection; sociodemographic characteristics and health status structured interview schedule and patient satisfaction scale. Reliability test for the scale was done using Cronbach's Alpha test, the result of the test ranged between 0.717 and 0.967. The overall satisfaction was computed and divided into high, medium, and low satisfaction. Results: Age of the studied sample ranged between 19 and 62 years, more than half (54.2%) of them aged 40 to less than 60 years. More than half (52.8%) of the patients included in the study were diabetics, 39.1% of them were hypertensive, 19.2% had cardiovascular diseases, the rest of the sample had tumor, liver diseases, and orthopedic/neurological disorders (6.5%, 5.2% & 3.2%, respectively). The vast majority of the study group mentioned high satisfaction with overall service cost, environmental conditions, medical staff attitude and health education given at the PHC settings (87.8%, 90.7%, 86.3% & 90.9%, respectively), however, medium satisfaction was mostly reported concerning medical checkup procedures, follow-up data and referral system (41.2%, 28.5% & 28.9%, respectively). Score level of patient satisfaction with health services provided at the assessed Primary health care settings proved to be significantly associated with patients’ social status (P=0.003, X²=14.2), occupation (P=0.011, X²=11.2), and monthly income (P=0.039, X²=6.50). In addition, a significant association was observed between score level of satisfaction and type of illness (P=0.007, X²=9.366), type of medication (P=0.014, X²=9.033), prior knowledge about the health center (P=0.050, X²=3.346), and highly significant with the administrative zone (P=0.001, X²=55.294). Conclusion: The current study revealed that overall service cost, environmental conditions, staff attitude and health education at the assessed primary health care settings gained high patient satisfaction level, while, medical checkup procedures, follow-up, and referral system caused a medium level of satisfaction among assessed patients. Nevertheless, social status, occupation, monthly income, type of illness, type of medication and administrative zones are all factors influencing patient satisfaction with services provided at the health facilities.

Keywords: patient satisfaction, chronic illness, quality of health service, quality of service indicators

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Authors: M. Warburton

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Background: Case study examining hydrotherapy for a person with DSI. A 46 year-old lady completely deaf and blind post congenital rubella syndrome. Touch becomes the primary information gathering sense to optimise function in life. Communication is achieved via tactile finger spelling and signals onto her hand and skin. Hydrotherapy may provide a suitable mobility environment and somato-sensory input to people, and especially DSI persons. Buoyancy, warmth, hydrostatic pressure, viscosity and turbulence are elements of hydrotherapy that may offer a DSI person somato-sensory input to stimulate the mechanoreceptors, thermoreceptors and proprioceptors and offer a unique hydro-therapeutic environment. Purpose: The purpose of this case study was to establish what measurable benefits could be achieved from hydrotherapy with a DSI person. Methods: Hydrotherapy was provided for 8-weeks, 2 x week, 35-minute session duration. Pool temperature 32.5 degrees centigrade. Pool length 25-metres. Each session consisted of mobility encouragement and supervision, and activities to stimulate the somato-sensory system utilising aquatic properties of buoyancy, turbulence, viscosity, warmth and hydrostatic pressure. Somato-sensory activities focused on stimulating touch and tactile exploration including objects of various shape, size, weight, contour, texture, elasticity, pliability, softness and hardness. Outcomes were measured by the Goal Attainment Scale (GAS) and included mobility distance, attendance, and timed tactile responsiveness to varying objects. Results: Mobility distance and attendance exceeded baseline expectations. Timed tactile responsiveness to varying objects also changed positively from baseline. Average scale scores were 1.00 with an overall GAS t-score of 63.69. Conclusions: Hydrotherapy can be a quantifiable physio-therapeutic option for persons with DSI. It provides a relatively safe environment for mobility and allows the somato-sensory system to be fully engaged - important for the DSI population. Implications: Hydrotherapy can be a measurable therapeutic option for a DSI person. Physiotherapists should consider hydrotherapy for DSI people. Hydrotherapy can offer unique physical properties for the DSI population not available on land.

Keywords: chronic, disability, disease, rehabilitation

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Authors: A. P. Pashkov

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The number of environmental factors that adversely affect children's health is growing every year; their combination in each territory is different. The contribution of socio-economic factors to the health status of the younger generation is increasing. It is the child’s body that is most sensitive to changes in environmental conditions, responding to this with a deterioration in health. Over the past years, scientists have determined the influence of environmental factors and the incidence of children. Currently, there is a tendency to study regional characteristics of the interaction of a combination of environmental factors with the child's body. The aim of the work was to identify trends in the primary non-infectious morbidity of the children of the Altai Territory as a unique region that combines territories with different levels of environmental quality indicators, as well as to assess the effect of atmospheric air, drinking water and socio-economic indicators on the incidence of children in the region. An unfavorable tendency has been revealed in the region for incidence of such nosological groups as neoplasms, including malignant ones, diseases of the endocrine system, including obesity and thyroid disease, diseases of the circulatory system, digestive diseases, diseases of the genitourinary system, congenital anomalies, and respiratory diseases. Between some groups of diseases revealed a pattern of geographical distribution during mapping and a significant correlation. Some nosologies have a relationship with socio-economic indicators for an integrated assessment: circulatory system diseases, respiratory diseases (direct connection), endocrine system diseases, eating disorders, and metabolic disorders (feedback). The analysis of associations of the incidence of children with average annual concentrations of substances that pollute the air and drinking water showed the existence of reliable correlation in areas of critical and intense degree of environmental quality. This fact confirms that the population living in contaminated areas is subject to the negative influence of environmental factors, which immediately affects the health status of children. The results obtained indicate the need for a detailed assessment of the influence of environmental factors on the incidence of children in the regional aspect, the formation of a database, and the development of automated programs that can predict the incidence in each specific territory. This will increase the effectiveness, including economic of preventive measures.

Keywords: incidence of children, regional features, socio-economic factors, environmental factors

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Authors: Tuna Şahsuvaroğlu

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The concept of disability is a concept that has been the subject of many studies in national and international literature with its social, sociological, political, anthropological, economic and social dimensions as well as with individual and social consequences. A disabled person is defined as a person who has difficulties in adapting to social life and meeting daily needs due to loss of physical, mental, spiritual, sensory and social abilities to various degrees, either from birth or for any reason later, and they are in need of protection, care, rehabilitation, counseling and support services. The industrial revolution and the rapid industrialization it brought with it led to an increase in the rate of disabilities resulting from work accidents, in addition to congenital disabilities. This increase has resulted in disabled people included in the employment policies of nations as a disadvantaged group. Although the participation of disabled individuals in the workforce is of great importance in terms of both increasing their quality of life and their integration with society and although disabled individuals are willing to participate in the workforce, they encounter with many problems. One of these problems is the negative attitudes and prejudices that develop in society towards the employment of disabled individuals. One of the most powerful ways to turn these negative attitudes and prejudices into positive ones is education. Education is a way of guiding societies and transferring existing social characteristics to future generations. This can be maintained thanks to teachers, who are one of the most dynamic parts of society and act as the locomotive of education driven by the need to give direction and transfer and basically to help and teach. For this reason, there is a strong relationship between the teaching profession and the attitudes formed in society towards the employment of disabled individuals, as they can influence each other. Therefore, the purpose of this study is to examine teacher candidates' attitudes towards the employment of disabled individuals in terms of various variables. The participants of the study consist of 665 teacher candidates studying at various departments at Marmara University Faculty of Education in the 2022-2023 academic year. The descriptive survey model of the general survey model was used in this study as it intends to determine the attitudes of teacher candidates towards the employment of disabled individuals in terms of different variables. The Attitude Scale Towards Employment of Disabled People was used to collect data. The data were analyzed according to the variables of age, gender, marital status, the department, and whether there is a disabled relative in the family, and the findings were discussed in the context of further research.

Keywords: teacher candidates, disabled, attitudes towards the employment of disabled people, attitude scale towards the employment of disabled people

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Authors: Suat Erel, Gozde Gur

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Background: Recently a supramalleolar type of dynamic ankle foot orthosis (DAFO) has been increasingly used to support all of the dynamic arches of the foot and redistribute the pressure under the plantar surface of the foot to reduce the muscle tone. DAFO helps to maintain balance and postural control by providing stability and proprioceptive feedback in children with disease like Cerebral Palsy, Muscular Dystrophies, Down syndrome, and congenital hypotonia. Aim: The aim of this study was to investigate the role of Dynamic ankle foot orthosis (DAFO) on temporo-spatial parameters of gait and balance in three children with hereditary spastic paraparesis (HSP). Material Method: 13, 14, and 8 years old three children with HSP were included in the study. To provide correction on weight bearing and to improve gait, DAFO was made. Lower extremity spasticity (including gastocnemius, hamstrings and hip adductor muscles) using modified Ashworth Scale (MAS) (0-5), The temporo-spatial gait parameters (walking speed, cadence, base of support, step length) and Timed Up & Go test (TUG) were evaluated. All of the assessments about gait were compared with (with DAFO and shoes) and without DAFO (with shoes only) situations. Also after six months follow up period, assessments were repeated by the same physical therapist. Results: MAS scores for lower extremity were between “2-3” for the first child, “0-2” for the second child and “1-2” for the third child. TUG scores (sec) decreased from 20.2 to 18 for case one, from 9.4 to 9 for case two and from 12,4 to 12 for case three in the condition with shoes only and also from 15,2 to 14 for case one, from 7,2 to 7,1 for case two and from 10 to 7,3 for case three in the condition with DAFO and shoes. Gait speed (m/sec) while wearing shoes only was similar but while wearing DAFO and shoes increased from 0,4 to 0,5 for case one, from 1,5 to 1,6 for case two and from 1,0 to 1,2 for case three. Base of support scores (cm) wearing shoes only decreased from 18,5 to 14 for case one, from 13 to 12 for case three and were similar as 11 for case two. While wearing DAFO and shoes, base of support decreased from 10 to 9 for case one, from 11,5 to 10 for case three and was similar as 8 for case two. Conclusion: The use of a DAFO in a patient with HSP normalized the temporo-spatial gait parameters and improved balance. Walking speed is a gold standard for evaluating gait quality. With the use of DAFO, walking speed increased in this three children with HSP. With DAFO, better TUG scores shows that functional ambulation improved. Reduction in base of support and more symmetrical step lengths with DAFO indicated better balance. These encouraging results warrant further study on wider series.

Keywords: dynamic ankle foot orthosis, gait, hereditary spastic paraparesis, balance in patient

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Authors: Abebe Yimer, Sirawdink Fikereyesus Forsido, Getachew Addis, Abebe Ayelign

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Background: Oxidative stress has been an important health problem as itinduceschronic diseases such as cancer, cardiovascular, diabetics, and neurodegenerative disease. Plant source natural antioxidant has gained attention as synthetic antioxidant negatively impact human health. Wild edible plants arecheap source of dietary-medicine in mainly rural communityin south-west Ethiopia and elsewhere the country. Thus, the study aimed to determine total pheneol,flavoinoids, antioxidant, vitamin C, and beta-carotene content from wild edible plants Solanum nigrum L., Vigna membranacea A. Rich, Dioscorea praehensilis Benth., Trilepisium madagascariense D.C.andCleome gynandra L. Methods: Methanol was used to extract samples of oven-dried edible plants. Total phenolic compound (TPC) was determined using a Folin Ciocalteu method, whereas total flavonoid content (TFC) was determined using the Aluminium chloride colorimetric method. By using 2, 2-diphenyl-1-picrylhydrazyl (DPPH) and ferric reducing antioxidant power (FRAP) tests, antioxidant activities were evaluated in vitro. Additionally, beta-carotene was assessed using a spectrophotometric technique, whilst vitamin C was determined using a titration approach. Results: Total flavonoid contentranged from 0.85±0.03 to 11.25±0.01 mg CE/g in D. praehensilis Benth. tuber and C. gynandra L, respectively. Total phenolic compounds varied from 0.25±0.06 GAE/g in D. praehensilis Benth tuber to 35.73±2.52 GAE/g in S.nigrum L. leaves. In the DPPH test, the highest antioxidant value (87.65%) was obtained in the S.nigrum L. leaves, whereas the smallest amount of antioxidant (50.12%)was contained in D. praehensilis Benth tuber. Similarly in FRAP assay,D. praehensilis Benth tuber showed the least reducing potential(49.16± 2.13mM Fe2+/100 g)whilst the highest reducing potential was presented in the S.nigrum L. leaves(188.12±1.13 mM Fe2+/100 g). The beta-carotene content was found between 11.81±0.00 mg/100g in D. praehensilis Benth tubers to 34.49±0.95 mg/100g in V. membranacea A. Rich leaves. The concentration of vitamin C ranged from 10.00±0.61 in D. praehensilis Benth tubers to 45±1.80 mg/100g in V. membranacea A. Rich leaves. The results showed that high positive linear correlations between TPC and TFC of WEPs (r=0.828), as well as between FRAP and total phenolic contents (r = 0.943) and FRAP and vitamin C (r= 0.928). Conclusion: These findings showed the total phenolic and flavonoid contents of Solanum nigrum L. and Cleome gynandra L, respectively, are abundant. The outcome may be used as a natural supply of dietary antioxidants, which may be useful in preventing oxidative stress. The study's findings also showed that Vigna membranacea A. Rich leaves were cheap source of vitamin C and beta-carotene for people who consumed these wild green. Additional research on the in vivo antioxidant activity, toxicological analysis, and promotion of these wild food plants for agricultural production should be taken into consideration.

Keywords: antioxidant activity, beta-carotene, flavonoids, phenolic content, and vitamin c

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Authors: Atitallah Sofien, Bouyahia Olfa, Romdhani Meriam, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

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Introduction: Spondylothoracic dysostosis, also known as Jarcho-Levin syndrome, is defined by a shortened neck and thorax, a protruding abdomen, inguinal and umbilical hernias, atypical spinal structure and rib fusion, leading to restricted chest movement or difficulty in breathing, along with urinary tract abnormalities and, potentially severe scoliosis. Aim: This is the case of a patient diagnosed with Jarcho-Levin syndrome, aiming to detail the range of abnormalities observed in this syndrome, the observed complications, and the therapeutic approaches employed. Results: A three-month-old male infant, born of a consanguineous marriage, delivered at full term by cesarean section, was admitted to the pediatric department for severe acute bronchiolitis. In his prenatal history, morphological ultrasound revealed macrosomia, a shortened spine, irregular vertebrae with thickened skin, normal fetal cardiac ultrasound, and the absence of the right kidney. His perinatal history included respiratory distress, requiring ventilatory support for five days. Upon physical examination, he had stunted growth, scoliosis, a short neck and trunk, longer upper limbs compared to lower limbs, varus equinus in the right foot, a neural tube defect, a low hairline, and low-set ears. Spondylothoracic dysostosis was suspected, leading to further investigations, including a normal transfontaneous ultrasound, a spinal cord ultrasound revealing a lipomyelocele-type closed dysraphism with a low-attached cord, an abdominal ultrasound indicating a single left kidney, and a cardiac ultrasound identifying Kommerell syndrome. Due to a lack of resources, genetic testing could not be performed, and the diagnosis was based on clinical criteria. Conclusion: Jarcho-Levin syndrome can result in a mortality rate of about 50%, primarily due to respiratory complications associated with thoracic insufficiency syndrome. Other complications, like heart and neural tube defects, can also lead to premature mortality. Therefore, early diagnosis and comprehensive treatment involving various specialists are essential.

Keywords: Jarcho-Levin syndrome, congenital disorder, scoliosis, spondylothoracic dysostosis, neural tube defect

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Authors: Caroline Kim

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Scholars have long disputed the relationship between the origins of language and human behavior. Historically, behaviorist psychologist B. F. Skinner argued that language is one instance of the general stimulus-response phenomenon that characterizes the essence of human behavior. Another, more recent approach argues, by contrast, that language is an innate cognitive faculty and does not arise from behavior, which might develop and reinforce linguistic facility but is not its source. Pinker, among others, proposes that linguistic defects arise from damage to the brain, both congenital and acquired in life. Much of his argument is based on case studies in which damage to the Broca’s and Wernicke’s areas of the brain results in loss of the ability to produce coherent grammatical expressions when speaking or writing; though affected speakers often utter quite fluent streams of sentences, the words articulated lack discernible semantic content. Pinker concludes on this basis that language is an innate component of specific, classically language-correlated regions of the human brain. Taking a notorious 1970s case of linguistic maladaptation, this paper queries the dominant materialist paradigm of language-correlated regions. Susan “Genie” Wiley was physically isolated from language interaction in her home and beaten by her father when she attempted to make any sort of sound. Though without any measurable resulting damage to the brain, Wiley was never able to develop the level of linguistic facility normally achieved in adulthood. Having received a negative reinforcement of language acquisition from her father and lacking the usual language acquisition period, in adulthood Wiley was able to develop language only at a quite limited level in later life. From a contemporary behaviorist perspective, this case confirms the possibility of language deficiency without brain pathology. Wiley’s potential language-determining areas in the brain were intact, and she was exposed to language later in her life, but she was unable to achieve the normal level of communication skills, deterring socialization. This phenomenon and others like it in the case limited literature on linguistic maladaptation pose serious clinical, scientific, and indeed philosophical difficulties for both of the major competing theories of language acquisition, innateness, and linguistic stimulus-response. The implications of such cases for future research in language acquisition are explored, with a particular emphasis on the interaction of innate capacity and stimulus-based development in early childhood.

Keywords: behaviorism, innateness hypothesis, language, Susan "Genie" Wiley

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Authors: Maryam Firouzmandi, Moosa Miri

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Common reasons for early tooth loss are trauma, extraction due to caries or periodontal disease and congenital missing. The remaining space after tooth loss may cause functional and esthetic problems. Therefore restorative dentists should attempt to manage these spaces using conservative methods. The goal is to restore the lost esthetic and function, prevent phonetic, self-esteem and personality problems and tongue habits. Preserving alveolar bone is also of great importance during the growth stage. Purpose: When deciding about the management of the missing tooth, space implants are contradicted until the completion of dentoalveolar development. Even in adulthood, due to systemic or periodontal problems or biological and economic issues, the implant might not be indicated. In this article, the alternative conservative restorative methods of space maintenance are going to be discussed. Essix retainers are made chair-side as easy as forming a custom bleaching tray with some modifications. They are esthetically acceptable and not expensive. These temporaries provide support for the lips but could not be used during function. Mini-screw-supported temporaries are another option for maintaining the space, especially after orthodontic treatment when there is a time lag between the termination of orthodontic treatment and definitive restoration. Two techniques will be presented for this kind of restoration: Denture tooth pontic or a composite crown. The benefits are alveolar bone preservation, Physiologic pressure on the alveolar ridge to increase its density and even can be retained until the completion of the definitive treatment. Bonded fixed partial denture includes Maryland bridge, fiber-reinforced composite bridge, resin-bonded bridge, and ceramic bonded bridge. These types of bridges are recommended to be used after a pubertal growth spurt and a recent meta-analysis considered their clinical success similar to conventional FDPs and implant-supported crowns. However, they have several advantages that are going to be discussed by presenting some clinical examples. Practical instruction on how to construct an FRC bridge and a novel chair-side Maryland bridge will be given by means of clinical cases. Clinical relevance: minimally invasive options should always be considered and destruction of healthy enamel and dentin during the preparation phase should be avoided as much as possible.

Keywords: tooth missing, fiber-reinforced composite, Maryland, Essix retainers, screw-retained restoration

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Authors: Girija Madhavanprabhakaran, Frincy Franacis, Sheeba Elizabeth John

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Introduction: A wide range of prenatal genetic screening is introduced with increasing incidences of congenital anomalies even in low-risk pregnancies and is an emerging standard of care. Being frontline caretakers, the role and responsibilities of nurses and midwives are critical as they are working along with couples to provide evidence-based supportive educative care. The increasing genetic disorders and advances in prenatal genetic screening with limited genetic counselling facilities urge nurses and midwifery nurses with essential competencies to help couples to take informed decision. Objective: This integrative literature review aimed to explore nurse midwives’ knowledge and role in prenatal screening and genetic counselling competency and the challenges faced by them to cater to all pregnant women to empower their autonomy in decision making and ensuring psychological comfort. Method: An electronic search using keywords prenatal screening, genetic counselling, prenatal counselling, nurse midwife, nursing education, genetics, and genomics were done in the PUBMED, SCOPUS and Medline, Google Scholar. Finally, based on inclusion criteria, 8 relevant articles were included. Results: The main review results suggest that nurses and midwives lack essential support, knowledge, or confidence to be able to provide genetic counselling and help the couples ethically to ensure client autonomy and decision making. The majority of nurses and midwives reported inadequate levels of knowledge on genetic screening and their roles in obtaining family history, pedigrees, and providing genetic information for an affected client or high-risk families. The deficiency of well-recognized and influential clinical academic midwives in midwifery practice is also reported. Evidence recommended to update and provide sound educational training to improve nurse-midwife competence and confidence. Conclusion: Overcoming the challenges to achieving informed choices about fetal anomaly screening globally is a major concern. Lack of adequate knowledge and counselling competency, communication insufficiency, need for education and policy are major areas to address. Prenatal nurses' and midwives’ knowledge on prenatal genetic screening and essential counselling competencies can ensure services to the majority of pregnant women around the globe to be better-informed decision-makers and enhances their autonomy, and reduces ethical dilemmas.

Keywords: challenges, genetic counselling, prenatal screening, prenatal counselling

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Authors: Milica B. Veljković, Milica B. Simović, Marija M. Ćorović, Ana D. Milivojević, Anja I. Petrov, Katarina M. Banjanac, Dejan I. Bezbradica

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In recent decades, the scientific community has recognized the growing importance of prebiotics, and therefore, numerous studies are focused on their economic production due to their low presence in natural resources. It has been confirmed that prebiotics is a source of energy for probiotics in the gastrointestinal tract (GIT) and enable their proliferation, consequently leading to the normal functioning of the intestinal microbiota. Also, products of their fermentation are short-chain fatty acids (SCFA), which play a key role in maintaining and improving the health not only of the GIT but also of the whole organism. Among several confirmed prebiotics, fructooligosaccharides (FOS) are considered interesting candidates for use in a wide range of products in the food industry. They are characterized as low-calorie and non-cariogenic substances that represent an adequate sugar substitute and can be considered suitable for use in products intended for diabetics. The subject of this research will be the production of FOS by transforming sucrose using a fructosyltransferase (FTase) present in commercial preparation Pectinex® Ultra SP-L, with special emphasis on the development of adequate FTase immobilization method that would enable selective isolation of the enzyme responsible for the synthesis of FOS from the complex enzymatic mixture. This would lead to considerable enzyme purification and allow its direct incorporation into different sucrose-based products without the fear that the action of the other hydrolytic enzymes may adversely affect the products' functional characteristics. Accordingly, the possibility of selective immobilization of the enzyme using support with primary amino groups, Purolite® A109, which was previously activated and modified using glutaraldehyde (GA), was investigated. In the initial phase of the research, the effects of individual immobilization parameters such as pH, enzyme concentration, and immobilization time were investigated to optimize the process using support chemically activated with 15% and 0.5% GA to form dimers and monomers, respectively. It was determined that highly active immobilized preparations (371.8 IU/g of support - dimer and 213.8 IU/g of support – monomer) were achieved under acidic conditions (pH 4) provided that an enzyme concentration was 50 mg/g of support after 7 h and 3 h, respectively. Bearing in mind the obtained results of the expressed activity, it is noticeable that the formation of dimers showed higher reactivity compared to the form of monomers. Also, in the case of support modification using 15% GA, the value of the ratio of FTase and pectinase (as dominant enzyme mixture component) activity immobilization yields was 16.45, indicating the high feasibility of selective immobilization of FTase on modified polystyrene resin. After obtaining immobilized preparations of satisfactory features, they were tested in a reaction of FOS synthesis under determined optimal conditions. The maximum FOS yields of approximately 50% of total carbohydrates in the reaction mixture were recorded after 21 h. Finally, it can be concluded that the examined immobilization method yielded highly active, stable and, more importantly, refined enzyme preparation that can be further utilized on a larger scale for the development of continual processes for FOS synthesis, as well as for modification of different sucrose-based mediums.

Keywords: chemical modification, fructooligosaccharides, glutaraldehyde, immobilization of fructosyltransferase

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

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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

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Authors: Marie-Helena Docherty, Sion Edryd Williams

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The prevalence of diabetes mellitus is increasing worldwide. In Sub-Saharan Africa, type 2 diabetes represents over 90% of all types of diabetes with the number of diabetic patients expected to rise. This represents a huge economic burden in an area already contending with high rates of other significant diseases, including the highest worldwide prevalence of HIV. Diabetic complications considerably impact on morbidity and mortality. The epidemiological data for the region quotes high rates of retinopathy (7-63%), neuropathy (27-66%) and microalbuminuria (10-83%). It is therefore imperative that diabetic screening programmes are established. It is recognised that in many parts of the developing world the implementation and management of such programmes is limited by a lack of available resources. The International Diabetes Federation produced guidelines in 2012 taking these limitations into account suggesting that all diabetic patients should have access to basic screening. These guidelines are consistent with the national diabetic guidelines produced by the Lesotho Medical Council. However, diabetic care in Lesotho is delivered at the local level, with variable levels of quality. A cross sectional study was performed in the outpatient department of Maluti Hospital in Mapoteng, Lesotho, a busy rural hospital in the Berea district. Demographic data on gender, age and modality of treatment were collected over a six-week time period. Information regarding 3 basic screening parameters was obtained. These parameters included eye screening (defined as a documented ophthalmology review within the last 12 months), foot screening (defined as a documented foot health assessment by any health care professional within the last 12 months) and secondary prevention (defined as a documented blood pressure and lipid profile reading within the last 12 months). These parameters were selected on the basis of the absolute minimum level of resources in Maluti Hospital. Renal screening was excluded, as the hospital does not have access to reliable renal profile checks or urinalysis. There is however a fully functioning on-site ophthalmology department run by a senior ophthalmologist with the ability to provide retinal photography, retinal surgery and photocoagulation therapy. Data was collected on 183 type 2 diabetics. 112 patients were male and 71 were female. The average age was 43 years. 4 patients were diet controlled, 140 patients were on oral hypoglycaemic agents (metformin and/or glibenclamide), and 39 patients were on a combination of insulin and oral hypoglycaemics. In the preceding 12 months, 5 patients had undergone eye screening (3%), 24 patients had undergone foot screening (13%), and 31 patients had lipid profile testing (17%). All patients had a documented blood pressure reading (100%). Our results show that screening is poorly performed in the basic indicators suggested by the IDF and the Lesotho Medical Council. On the basis of these results, a screening programme was developed using the mnemonic SaFE; secondary prevention, foot and eye care. This is simple, memorable and transferable between healthcare professionals. In the future, the expectation would be to expand upon this current programme to include renal screening, and to further develop screening pertaining to secondary prevention.

Keywords: Africa, complications, rural, screening

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Iman Zafarparandeh, Muzammil Mumtaz, Paniz Taherzadeh, Deniz Erbulut

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The instability in the atlantoaxial joint may occur due to cervical surgery, congenital anomalies, and trauma. There are different types of fixation techniques proposed for restoring the stability and preventing harmful neurological deterioration. Application of the screw constructs has become a popular alternative to the older techniques for stabilizing the joint. The main difference between the various screw constructs is the type of the screw which can be lateral mass screw, pedicle screw, transarticular screw, and translaminar screw. The aim of this paper is to study the effect of three popular screw constructs fixation techniques on the biomechanics of the atlantoaxial joint using the finite element (FE) method. A three-dimensional FE model of the upper cervical spine including the skull, C1 and C2 vertebrae, and groups of the existing ligaments were developed. The accurate geometry of the model was obtained from the CT data of a 35-year old male. Three screw constructs were designed to compare; Magerl transarticular screw (TA-Screw), Goel-Harms lateral mass screw and pedicle screw (LM-Screw and Pedicle-Screw), and Wright lateral mass screw and translaminar screw (LM-Screw and TL-Screw). Pure moments were applied to the model in the three main planes; flexion (Flex), extension (Ext), axial rotation (AR) and lateral bending (LB). The range of motion (ROM) of C0-C1 and C1-C2 segments for the implanted FE models are compared to the intact FE model and the in vitro study of Panjabi (1988). The Magerl technique showed less effect on the ROM of C0-C1 than the other two techniques in sagittal plane. In lateral bending and axial rotation, the Goel-Harms and Wright techniques showed less effect on the ROM of C0-C1 than the Magerl technique. The Magerl technique has the highest fusion rate as 99% in all loading directions for the C1-C2 segment. The Wright technique has the lowest fusion rate in LB as 79%. The three techniques resulted in the same fusion rate in extension loading as 99%. The maximum stress for the Magerl technique is the lowest in all load direction compared to other two techniques. The maximum stress in all direction was 234 Mpa and occurred in flexion with the Wright technique. The maximum stress for the Goel-Harms and Wright techniques occurred in lateral mass screw. The ROM obtained from the FE results support this idea that the fusion rate of the Magerl is more than 99%. Moreover, the maximum stress occurred in each screw constructs proves the less failure possibility for the Magerl technique. Another advantage of the Magerl technique is the less number of components compared to other techniques using screw constructs. Despite the benefits of the Magerl technique, there are drawbacks to using this method such as reduction of the C1 and C2 before screw placement. Therefore, other fixation methods such as Goel-Harms and Wright techniques find the solution for the drawbacks of the Magerl technique by adding screws separately to C1 and C2. The FE model implanted with the Wright technique showed the highest maximum stress almost in all load direction.

Keywords: cervical spine, finite element model, atlantoaxial, fixation technique

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Authors: Aryati Yashadhana, Ted Fields Jnr., Wendy Fernando, Kelvin Brown, Godfrey Blitner, Francis Hayes, Ruby Stanley, Brian Donnelly, Bridgette Jerrard, Anthea Burnett, Anthony B. Zwi

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Indigenous Australians experience some of the worst health outcomes globally, with life expectancy being significantly poorer than those of non-Indigenous Australians. This is largely attributed to preventable diseases such as diabetes (prevalence 39% in Indigenous Australian adults > 55 years), which is attributed to a raised risk of diabetic visual impairment and cataract among Indigenous adults. Our study aims to explore the interface between structural and sociocultural determinants and human agency, in order to understand how they impact (1) accessibility of eye health and chronic disease services and (2) the potential for Indigenous patients to achieve positive clinical eye health outcomes. We used Participatory Action Research methods, and aimed to privilege the voices of Indigenous people through community collaboration. Semi-structured interviews (n=82) and patient focus groups (n=8) were conducted by Indigenous Community-Based Researchers (CBRs) with diabetic Indigenous adults (> 40 years) in four remote communities in Australia. Interviews (n=25) and focus groups (n=4) with primary health care clinicians in each community were also conducted. Data were audio recorded, transcribed verbatim, and analysed thematically using grounded theory, comparative analysis and Nvivo 10. Preliminary analysis occurred in tandem with data collection to determine theoretical saturation. The principal investigator (AY) led analysis sessions with CBRs, fostering cultural and contextual appropriateness to interpreting responses, knowledge exchange and capacity building. Identified themes were conceptualised into three spheres of influence: structural (health services, government), sociocultural (Indigenous cultural values, distrust of the health system, ongoing effects of colonialism and dispossession) and individual (health beliefs/perceptions, patient phenomenology). Permeating these spheres of influence were three core determinants: economic disadvantage, health literacy/education, and cultural marginalisation. These core determinants affected accessibility of services, and the potential for patients to achieve positive clinical outcomes at every level of care (primary, secondary, tertiary). Our findings highlight the clinical realities of institutionalised and structural inequities, illustrated through the lived experiences of Indigenous patients and primary care clinicians in the four sampled communities. The complex determinants surrounding inequity in health for Indigenous Australians, are entrenched through a longstanding experience of cultural discrimination and ostracism. Secure and long term funding of Aboriginal Community Controlled Health Services will be valuable, but are insufficient to address issues of inequity. Rather, working collaboratively with communities to build trust, and identify needs and solutions at the grassroots level, while leveraging community voices to drive change at the systemic/policy level are recommended.

Keywords: indigenous, Australia, culture, public health, eye health, diabetes, social determinants of health, sociology, anthropology, health equity, aboriginal and Torres strait islander, primary care

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Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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Authors: Prajwal Paudel, Shreeprasad Adhikari, Shailendra Bir Karmacharya, Kalpana Upadhyaya

Abstract:

Background: Human milk banks have been recommended by the World Health Organization (WHO) for newborn and child nourishment in the provision of optimum nutrition as an alternative to breastfeeding in circumstances when direct breastfeeding is inaccessible. The vulnerable group of babies, mainly preterm, low birth weight, and sick newborns, are at a greater risk of mortality and possibly benefit from the safe use of donated human milk through milk banks. In this study, we aimed to shed light on the process involved during the setting up of the nation’s first milk bank and its vitality in small and sick newborn nutrition and care. Methods: The study was conducted in Paropakar Maternity and Women’s Hospital, where the first human milk (HMB) was established. The establishment involved a stepwise process of need assessment meeting, formation of the HMB committee, learning visit to HMB in India, studying the strengths and weaknesses of promoting breastfeeding and HMB system integration, procurement, installation, and setting up the infrastructure, and developing technical competency, launching of the HMB. After the initiation of HMB services, information regarding the recruited donor mothers and the volume of milk pasteurized and consumed by the needy recipient babies were recorded. Descriptive statistics with frequencies and percentages were used to describe the utilization of HMB services. Results: During the study period, a total of 506113 ml of milk was collected, while 49930 ml of milk was pasteurized. Of the pasteurized milk, 381248 ml of milk was dispensed. The total volume of milk received was from a total of 883 after proper routine screening tests. Similarly, the total number of babies who received the donated human milk (DHM) was 912 with different neonatal conditions. Among the babies who received DHM, 527(57.7%) were born via CS, and 385 (42.21%) were delivered normally. In the birth weight category,9 (1%) of the babies were less than 1000 grams, 75 (8.2%) were less than 1500 grams, 405 (44.4%) were between 1500 to less than 2500 grams whereas, 423 (46.4%) of the babies who received DHM were normal weight babies. Among the sick newborns, perinatal asphyxia accounted for 166 (18.2%), preterm with other complications 372 (40.7%), preterm 23 (2.02%), respiratory distress 140 (15.35%), neonatal jaundice 150 (16.44%), sepsis 94 (10.30%), meconium aspiration syndrome 9(1%), seizure disorder 28 (3.07%), congenital anomalies 13 (1.42%) and others 33(3. 61%). The neonatal mortality rate dropped to 6.2/1000 live births from 7.5/1000 live births in the first year of establishment as compared to the previous year. Conclusion: The establishment of the first HMB in Nepal involved a comprehensive approach to integrate a new system with the existing newborn care in the provision of safe DHM. Premature babies with complication, babies born via CS, perinatal asphyxia and babies with sepsis consumed the greater proportion of DHM. Rigorous research is warranted to assess the impact of DHM in small and sick newborn who otherwise would be fed formula milk.

Keywords: human milk bank, sick-newborn, mortality, neonatal nutrition

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Authors: Neeraj Vij, Amber Brennan, Jenni Winters, Hadi Salehi, Hamy Temkit, Emily Andrisevic, Mohan V. Belthur

Abstract:

Idiopathic clubfoot is a common lower extremity deformity with an incidence of 1:500. The Ponseti Method is well known as the gold standard of treatment. However, there is limited functional data demonstrating correction of the clubfoot after treatment with the Ponseti method. The purpose of this study was to study the clinical and functional outcomes after the Ponseti method with the Clubfoot Disease-Specific Instrument (CDS) and pedobarography. This IRB-approved prospective study included patients aged 3-18 who were treated for idiopathic clubfoot with the Ponseti method between January 2008 and December 2018. Age-matched controls were identified through siblings of clubfoot patients and other community members. Treatment details were collected through a chart review of the included patients. Laboratory assessment included a physical exam, gait analysis, and pedobarography. The Pediatric Outcomes Data Collection Instrument and the Clubfoot Disease-Specific Instrument were also obtained on clubfoot patients (CF). The Wilcoxson rank-sum test was used to study differences between the CF patients and the typically developing (TD) patients. Statistical significance was set at p < 0.05. There were a total of 37 enrolled patients in our study. 21 were priorly treated for CF and 16 were TD. 94% of the CF patients had bilateral involvement. The age at the start of treatment was 29 days, the average total number of casts was seven to eight, and the average total number of casts after Achilles tenotomy was one. The reoccurrence rate was 25%, tenotomy was required in 94% of patients, and ≥1 tenotomy was required in 25% of patients. There were no significant differences between step length, step width, stride length, force-time integral, maximum peak pressure, foot progression angles, stance phase time, single-limb support time, double limb support time, and gait cycle time between children treated with the Ponseti method and typically developing children. The average post-treatment Pirani and Dimeglio scores were 5.50±0.58 and 15.29±1.58, respectively. The average post-treatment PODCI subscores were: Upper Extremity: 90.28, Transfers: 94.6, Sports: 86.81, Pain: 86.20, Happiness: 89.52, Global: 88.6. The average post-treatment Clubfoot Disease-Specific Instrument scores subscores were: Satisfaction: 73.93, Function: 80.32, Overall: 78.41. The Ponseti Method has a very high success rate and remains to be the gold standard in the treatment of idiopathic clubfoot. Timely management leads to good outcomes and a low need for repeated Achilles tenotomy. Children treated with the Ponseti method demonstrate good functional outcomes as measured through pedobarography. Pedobarography may have clinical utility in studying congenital foot deformities. Objective measures for hours of brace wear could represent an improvement in clubfoot care.

Keywords: functional outcomes, pediatric deformity, patient-reported outcomes, talipes equinovarus

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Authors: Nadezhda F. Mikahailova, Margarita E. Fattakhova, Mirgarita A. Mironova, Ekaterina V. Vyacheslavova, Vladimir A. Mikahailov

Abstract:

Stigma is a significant obstacle to the successful adaptation of deaf students to the conditions of an educational institution, especially for those who study in inclusion. The aim of the study was to identify the spheres of life which are the most significant for developing of the stigma of deaf students; to assess the influence of factors associated with deafness on the degree of their self-stigmatization (time and degree of hearing loss, type of education - inclusion / differentiation) and to find out who is more prone to stigma - which characteristics of personality, identity, mental health and coping are specific for those deaf who demonstrates stigmatizing attitudes. The study involved 154 deaf and hard-of-hearing students (85 male and 69 female) aged from 18 to 45 years - 28 students of the Herzen State Pedagogical University (St. Petersburg), who study in inclusion, 108 students of the National Research Technological University and 18 students of the Aviation Technical College (Kazan) - students in groups with a sign language interpreter. We used the following methods: modified questionnaire 'Self-assessment and coping strategies' (Jambor & Elliot, 2005), Scale of self-esteem (Rosenberg et al, 1995), 'Big-Five' (Costa&McCrae, 1997), TRF (Becker, 1989), WCQ (Lazarus & Folkman, 1988), self-stigma scale (Mikhailov, 2008). The severity of self-stigmatization of deaf and hard of hearing students was determined by the degree of deafness and the time they live with hearing loss, learning conditions, the type of self-identification (acculturation), personality traits, and the specifics of coping behavior. Persons with congenital hearing loss more often noted a benevolent and sympathetic attitude towards them on the part of the hearers and less often, due to deafness, limited themselves to visiting public places than late deaf people, which indicates 'get rid of' the experience of their defect and normalization of the state. Students studying in conditions of inclusion more often noted the dismissive attitude of society towards deaf people. Individuals with mild to moderate hearing loss were more likely to fear marriage and childbearing because of their deafness than students with profound hearing loss. Those who considered themselves disabled (49% of all respondents) were more inclined to cope with seeking social support and less used 'distancing' coping. Those who believed that their quality of life and social opportunities were most influenced by the attitude of society towards the deaf (39%) were distinguished by a less pronounced sense of self-worth, a desire for autonomy, and frequent usage of 'avoidance' coping strategies. 36.4% of the respondents noted that there have been situations in their lives when people learned that they are deaf, began to treat them worse. These respondents had predominantly deaf acculturation, but more often, they used 'bicultural skills,' specific coping for the deaf, and had a lower level of extraversion and emotional stability. 31.2% of the respondents tried to hide from others that they have hearing problems. They considered themselves to be in a culture of hearing, used coping strategies 'bicultural skills,' and had lower levels of extraversion, cooperation, and emotional stability. Acknowledgment: Supported by the RFBR № 19-013-0040

Keywords: acculturation, coping, deafness, stigmatization

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Authors: Lauren Dhugga, Meena Parameswaran, David Blundell, Abbas Khushnood

Abstract:

Context: A multidisciplinary weekly safety briefing was implemented at the Paediatric Cardiothoracic Unit at the Freeman Hospital in Newcastle-upon-Tyne. It is a tertiary referral centre with a quarternary cardiac paediatric intensive care unit and provides complexed care including heart and lung transplants, mechanical support and advanced heart failure assessment. Aim: The aim of this briefing is to provide a structured platform of communication, in an effort to improve efficiency, safety, and patient care. Problem: The paediatric cardiothoracic unit is made up of a vast multidisciplinary team including doctors, intensivists, anaesthetists, surgeons, specialist nurses, echocardiogram technicians, physiotherapists, psychologists, dentists, and dietitians. It provides care for children with congenital and acquired cardiac disease and is one of only two units in the UK to offer paediatric heart transplant. The complexity of cases means that there can be many teams involved in providing care to each patient, and frequent movement of children between ward, high dependency, and intensive care areas. Currently, there is no structured forum for communicating important information across the department, for example, staffing shortages, prescribing errors and significant events. Strategy: An initial survey questioning the need for better communication found 90% of respondents agreed that they could think of an incident that had occurred due to ineffective communication, and 85% felt that incident could have been avoided had there been a better form of communication. Lastly, 80% of respondents felt that a weekly 60 second safety briefing would be beneficial to improve communication within our multidisciplinary team. Based on those promising results, a weekly 60 second safety briefing was implemented to be conducted on a Monday morning. The safety briefing covered four key areas (SAFE): staffing, awareness, fix and events. This was to highlight any staffing gaps, any incident reports to be learned from, any issues that required fixing and any events including teachings for the week ahead. The teams were encouraged to email suggestions or issues to be raised for the week or to approach in person with information to add. The safety briefing was implemented using change theory. Effect: The safety briefing has been trialled over 6 weeks and has received a good buy in from staff across specialties. The aim is to embed this safety briefing into a weekly meeting using the PDSA cycle. There will be a second survey in one month to assess the efficacy of the safety briefing and to continue to improve the delivery of information. The project will be presented at the next clinical governance briefing to attract wider feedback and input from across the trust. Lessons: The briefing displays promise as a tool to improve vigilance and communication in a busy multi-disciplinary unit. We have learned about how to implement quality improvement and about the culture of our hospital - how hierarchy influences change. We demonstrate how to implement change through a grassroots process, using a junior led briefing to improve the efficiency, safety, and communication in the workplace.

Keywords: briefing, communication, safety, team

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