The sociodemographic and clinical profile of children with an autism spectrum disorder in the oriental region of Morocco

Background The objective of our study is to assess the clinical profile of autistic children in Morocco and the cultural perception of their parents. We collect data with a standard questionnaire on 130 children with autism spectrum disorder (ASD). They were recruited from child psychiatry consultation in the hospital for mental health from 2017 to 2019. This questionnaire assesses the socio-demographic characteristics of children and parents, personal and family medical history, the progress of pregnancy and childbirth. For each child, we determined the developmental age, signs of autism, the comorbidities, the nature of the treatment, the evolution. We complete the examination with parents' perception and attitude towards autism. Results The age of diagnosis was 3.4 years. The sex ratio in our study was 4.6. A low rate of children screened by general practitioners (4.6%). Language impairment was the main reason for the consultation, followed by social withdrawal and stereotypies. 75% of the children benefited from multidisciplinary care. The autism age of screening was significantly lower among families belonging to medium and high socioeconomic status (F = 11.233; p = 0.001). Acceptance of diagnosis was present in 83% of cases, while 73.6% were involved in the care. Only 24% of parents thought that autism etiology is genetic, 75.4% notice improvement with age, and 80.2% consider it a source of family suffering. Conclusions These findings underscore the sociodemographic and clinical profile of children with ASD in the oriental region in Morocco. It could be relevant for early screening, intervention, and guidance for families with children having these conditions.

Determinants of Obesity and Metabolic Health in the Afghan Population: Protocol, Methodology, and Preliminary Results

Background Non-communicable diseases (NCDs) cause more than 70% of deaths worldwide and share modifiable risk factors including obesity and metabolic abnormalities. Over the past 15 years, many changes in lifestyle, dietary patterns, physical activity, and socioeconomic status have been observed in the Afghan population. This study aims to investigate which specific lifestyle factors, dietary patterns, and characteristics of Westernization are associated with an increased risk of being overweight or obese and with poor metabolic health in the Afghan population. Methods A population-based cross-sectional study was conducted where a total of 729 male and female participants were recruited. Face-to-face interviews and anthropometric measurements were conducted by trained health staff using standardized questionnaires which included information on socio-demographic and housing characteristics, income, occupation, ethnicity, personal and family medical history, stress, anthropometry, diet, and physical activity. Bioelectric impedance analysis (BIA) was used to estimate body composition, including overall body fatness. Physical activity was measured using the short version of the International Physical Activity Questionnaire (IPAQ). For a comprehensive assessment of dietary intake, a food-frequency questionnaire (FFQ) specific to the Afghan population was developed which included all local food items relevant to the population. Lipid profile and fasting glucose were measured in a local laboratory. Biospecimens were collected using dried blood spots (DBS) and dried stool cards to perform microbiome and biomarker-based research. Discussion This is the first study which will assess dietary patterns, lifestyle factors, and their association with obesity and metabolic health in Afghanistan. Such a study will aid the development of dietary and lifestyle guidelines in Afghanistan which will promote better health and educate people to make healthy food choices. The findings will also help in designing and implementing effective public health strategies to promote a healthy lifestyle and prevent the epidemic of overweight and obesity, and, hence, reduce the burden of non-communicable diseases in the region.

Impact of Nutrition Education on Knowledge, Attitude and Practice (KAP) Levels of Selected Osteoporotic Subjects

The study was undertaken to evaluate the impact of nutrition education on knowledge, attitude and practice levels of thirty volunteer osteoporotic subjects visiting orthopedic clinics of Davangere district of Karnataka state. Socioeconomic and nutritional status was assessed by standard procedures and nutrition education imparted on relevant aspects. A well-structured questionnaire of 15 statements with multiple answers was developed and used before and after one day counselling to determine knowledge, attitude and practice of the subjects. Hypertension was the common family medical history followed by diabetes mellitus and fractures. Absence of physical activities or exercises was evident. Rice was consumed on daily basis whereas ragi on weekly basis by maximum number of respondents. Grade I obesity was more prevalent among males (20%) than female (5%) whereas Grade II obesity was only observed in females (30%). Assessment of knowledge gain after nutrition education revealed that Per centage gain in knowledge was more among male subjects (54.8%) than female subjects (36.9%) and that of attitude for both the subjects was at a range of 35.6 to 36.5%. The per cent gain in practice was slightly higher among male subjects (19.3%) compared to female subjects (15.0%) The overall per centage gain of knowledge, attitude and practice for all subjects was 42.9 per cent, 37.4 per cent and 15.4 per cent respectively which was statistically significant (p<0.05) indicating the positive impact of nutrition education on KAP levels of the subjects.

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation

Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM.

Maintaining access to genomic cancer risk assessment (GCRA) during the COVID-19 pandemic using telemedicine in a resource-limited setting.

286 Background: COVID-19 has disrupted cancer care services globally, and particularly in low- and middle-income countries. The cancer genetics clinic at Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán has provided GCRA for over 1000 underserved Mexican patients with cancer since 2017 through a collaboration with the Clinical Cancer Genomics Community Research Network (CCGCRN). During the COVID-19 pandemic, in-person clinic visits were suspended, and telemedicine emerged as a potential way to provide GCRA while reducing the risk of COVID-19. Here, we report our experience using telemedicine to provide GCRA in a resource-limited setting. Methods: During the COVID-19 pandemic, new patients meeting criteria for GCRA were invited to join the CCGCRN via phone call. Candidates received detailed information regarding the protocol procedures and multigene genetic testing. Those who accepted were sent an electronic consent form, family medical history forms, and risk reduction questionnaires to be completed before their appointment. Blood testing was performed during a short visit to the hospital, or mailed by the patient. Patients who had already received GCRA and genetic testing prior to the start of the pandemic were contacted to cancel their in-person appointment and to schedule a telemedicine visit. According to patient preferences and availability, results were disclosed via phone call, video call, or teleconferencing software employing end-to-end encryption communication apps. Results: Between July 2020 and May 2021, 273 new patients fulfilling GCRA criteria were invited to the CCGCRN protocol. Median age at the time of enrollment was 44 years (range 27-66), 87% (n = 237) were women, and 68% (n = 187) had a personal history of cancer (90% breast). Eighty-three percent of new patients (n = 227) completed all the protocol procedures. Median length of the enrollment phone call was 10 minutes (range 4-71 min). During the same period, 439 genetic testing results (including those of patients who received GCRA before the pandemic and of new patients) were disclosed: 356 were negative and 83 had a pathogenic variant (PV). Ninety-nine percent of patients with negative testing received their results via phone call, and 96% were sent a digital written report. For patients with a PV, 80% of results were disclosed via videoconferencing platforms (WhatsApp or Zoom). All patients with PV were sent a digital written report, risk reduction and early detection recommendations, a family letter, and specific PV information. Conclusions: Providing access to GCRA and testing using readily-available telemedicine platforms proved feasible in a resource-limited setting during the COVID-19 pandemic. Our results show that telemedicine represents an excellent method to identify, recruit, and test patients meeting criteria for GCRA, and to provide genetic testing results.

Impact of Physical Therapy in Patients Undergoing Modified Radical Mastectomy: A Case Report

Introduction: Breast Cancer is responsible for 2.09 million cases and 6,27,000 deaths worldwide, as per WHO. In India, women have one of the most common cancer, accounting for 14 per cent of all women's cancers. Numerous risk factors are present, such as ethnicity, aging, hormones, family medical history, genetic abnormalities, and unhygienic lifestyles. Side effects of cancer treatment may be alleviated by exercise interventions. Physical- therapy has been shown to be effective in post-operative situations. It improves the functioning of the patient and the quality of life. Presenting Symptoms and Diagnosis: Main symptoms from the patient were pain in the upper extremity, lack of control, power and range of motion. The main clinical results in this case have been a severe decrease in the range of shoulder joint motion. Reduced strength in the upper extremity muscles and swelling (lymphoedema) in the upper extremity. Diagnosis of the case was Infiltrative Ductal Carcinoma that was confirmed by Ultrasonography and Fine Needle Aspiration Cytology. In such cases, behavioural approaches have been shown to be effective. Therapeutic Intervention and Outcomes: Physical therapy intervention involves a variety of range of motion exercises, strengthening exercises, resistance conditioning, breathing exercises, lymphoedema treatment and scar management. Conclusion: This intensive outpatient program is a successful way to enhance the mobility of the shoulder and ROM during the initial 6-week treatment cycle after surgery.

Family Medical History (Knowledge, Attitude) and Management Practices of Diabetes Patients Attending Medical Out Patient Department in Federal Capital Territory Abuja

Objective: The study assessed the knowledge, attitude and management practices of diabetes patients attending medical outpatient department in Federal Capital Territory Abuja. Materials and Methods: A total of 120 randomly selected respondents between 18 - 65 years were assessed using standard methods in a cross-sectional survey involving the use of validated semi-structured questionnaires. Results: The findings revealed that 60% of patients were without health insurance despite the fact that they are educated; 53% have been diagnosed and began their treatment between 2 and 5 years. For the knowledge indicators, 50% of the patients know two types of diabetes, 35% were able to list two types of diabetes while 56.70% could not list any type of diabetes. Attitude assessment among the diabetic patients revealed that 79.17%, 62.50%, 68.33% and 51.67% visit a physician; do monitor their blood glucose, have altered their eating habit and agreed that sedentary lifestyle is not good respectively; 41.67% of the respondents read health materials. In the area of lifestyle, changes made by the diabetic patients include check-up (3.33%), diet (18.33%) and exercise (20.00); 40.00% and 14.17% made a combination of two and three lifestyle changes respectively. Majority of the respondents do have their blood glucose level checked monthly. Conclusion: Based on the research findings, the diabetic patients’ knowledge, attitude and dietary practices are contributing factors to their high fasting blood glucose and poor nutrition status.

The Use of Genetic Testing Panels for Dyslipidemia: A Quality Improvement Project at the McGill University Health Centre

Background: Genetic testing panels are used to identify the most common genetic causes of dyslipidemia, and the results of these panels can guide treatment and management. The objective of this quality improvement project was to assess the appropriateness of genetic testing panels requested by the McGill University Health Centre (MUHC). Methods: Genetic testing panels sent for analysis from January 2018 to December 2019 were identified. Ordering physician specialty, patient personal and family medical history, lipid panel results, and genetic testing results were collected. Then, validated Familial Hyperlipidemia (FH) scores (Simon-Broome Registry Criteria, Dutch Lipid Clinic Network Criteria, FH Canada criteria) were calculated for patients who underwent genetic testing for suspected FH. Results: There were 36 genetic test panels sent out for analysis during the study period, of which 24 were accessible for data analysis. Pathogenic mutations were identified in 7/24 (29%) of the analyzed panels. The 19/24 (79%) of the panels were requested by lipid specialists, and all of the panels positive for pathogenic mutations were requested by lipid specialists. Interestingly, 23/24 (94%) of the patients met the Canadian criteria for at least considering genetic testing, suggesting that most panels were appropriately requested. Only 3/24 (12%) of patients had insufficient criteria for FH by the Simon-Broome criteria, but all of these carried pathogenic mutations. Conclusion: These results suggest that at the MUHC, using the Canadian criteria identifies a greater number of patients for genetic testing and for appropriate diagnosis and treatment.

Factors associated with recurrent transient global amnesia: systematic review and pathophysiological insights

The examination of the risk factors that affect the recurrence of transient global amnesia (TGA) may shed light on the pathophysiological substrate of the disease. A systematic review was performed to identify the factors associated with the recurrence of TGA. MEDLINE, EMBASE, CENTRAL and PsycINFO were meticulously searched. Observational controlled studies involving patients with single (s-TGA) and recurrent TGA (r-TGA) according to Hodges and Warlow’s criteria were retrieved. Differences in the demographic characteristics, personal and family medical history, previous exposure to precipitating events and laboratory findings were examined. Retrieved evidence was assessed in the context of the individual article validity, based on the numerical power and methodological quality of each study. Nine cohort studies with retrospective, prospective or mixed design were retrieved. In total, 1989 patients with TGA were included, 269 of whom suffered from r-TGA (13.5%). R-TGA presented an earlier age of onset. Evidence was suggestive of a relationship between recurrence and a family or personal history of migraine, as well as a personal history of depression. There was weaker evidence that associated recurrence with a positive family history of dementia, a personal history of head injury and hippocampal lesions in diffusion-weighted MRI. On the other hand, no connection was found between recurrence and electroencephalographic abnormalities, impaired jugular venous drainage, cardiovascular risk factors, atrial fibrillation, previous cerebrovascular events, exposure to precipitating events, a positive family history of TGA and hypothyroidism. Important pathophysiological insights that arised from these findings were discussed.

A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the AVP Gene

The autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) is a rare inherited endocrine disorder characterized by hypotonic polyuria, severe thirst and polydipsia, which results from a deficient neurosecretion of the antidiuretic hormone, also known as arginine vasopressin (AVP). To date, adFNDI has been linked to more than 70 different heterozygous point mutations of the 2.5 kb AVP gene, encoding the composite precursor protein of AVP. A minority of disease-causing mutations, such as the common c.55G>A variant, are predicted to affect amino acid residues close to the signal peptide (SP) cleavage site, and result in abnormal post-translational processing and intracellular trafficking of AVP precursors exerting neurotoxic activity on vasopressinergic magnocellular neurons. Generally, SP variants cause a gradual decline in the neurohypophyseal secretion of AVP in small children, although a wide variability in clinical onset and severity of manifestations has been reported. For the first time, we describe a kindred from Calabria (Southern Italy) with adFNDI and document a partial clinical phenotype in one female young adult member of the family. Methods: A young adult woman was subjected to clinical, neuroradiological and genetic assessments for a mild, adolescent-onset, polyuric state at our Endocrinology Unit. Her family medical history revealed an early-onset (<12 years of age) occurrence of polyuria and polydipsia, which was successfully managed with high doses of oral desmopressin, and a typical adFNDI inheritance pattern that was seen over three generations. Results: In the index patient, the extensive hypertonic dehydration during fluid deprivation test elicited a prompt elevation of urine osmolality and diuresis contraction, indicative of a partial adFNDI phenotype. Diagnosis was confirmed by concordant hormonal tests and magnetic resonance imaging (MRI) evidence of a reduced hyperintense signal of the neurohypophysis, which was regarded as compatible with the depletion of the vasopressinergic magnocellular neurons. Direct DNA sequencing and restriction enzyme cleavage analysis revealed that a heterozygous c.55G>A transition, predicting a p.Ala19Thr replacement in the C-terminal region of SP, was the cause of adFNDI in the investigated kindred. Conclusions: The identification of the genetic cause of aFNDI in this Calabrian kindred provides further information and confirms the wide variability of disease onset and severity of manifestations related to SP variants of the AVP gene, supporting the need for genetic testing in all patients with familial occurrence of polyuria, regardless of their clinical and radiological phenotype. Even though sexual differences in the antidiuretic responses are documented, it is unclear whether female gender would attenuate clinical disease progression in the presence of a pathogenic c.55G>A mutation.