Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates

Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Metabolic Center in Abu Dhabi, United Arab Emirates, between January 1995 and May 2013. Disease prevalence (per 100,000 live births) was estimated from data available for 1995–2011. Results: In 189 patients, 57 distinct IEM were diagnosed, of which 20 (35%) entities were previously reported LSD (65 patients with 39 mutations), with a birth prevalence of 26.87/100,000. This study investigated the remaining 37 (65%) patients with other IEM (124 patients with 62 mutations). Mutation analysis was performed on 108 (87%) of the 124 patients. Five patients with biotinidase deficiency had compound heterozygous mutations, and two siblings with lysinuric protein intolerance had two homozygous mutations. The remaining 103 (95%) patients had homozygous mutations. As of this study, 29 (47%) of the mutations have been reported only in Emiratis. Two mutations were found in three tribes (biotinidase deficiency [BTD, c.1330G>C] and phenylketonuria [PAH, c.168+5G>C]). Two mutations were found in two tribes (isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]). The remaining 58 (94%) mutations were each found in individual tribes. The prevalence was 48.37/100,000. The most prevalent diseases (2.2–4.9/100,000) were biotinidase deficiency; tyrosinemia type 1; phenylketonuria; propionic aciduria; glutaric aciduria type 1; glycogen storage disease type Ia, and mitochondrial deoxyribonucleic acid depletion. Conclusion: The IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening

Nasopharyngeal Isolates from a Cohort of Medical Students with or without Pharyngitis

Objectives: Few studies have investigated pharyngeal colonisation in the United Arab Emirates (UAE). This study aims to identify the pharyngeal organisms present in a cohort of medical students with and without symptomatic pharyngitis. Methods: This study was conducted between September 2016 and June 2018 at the College of Medicine and Health Sciences, UAE University, Al-Ain. Nasopharyngeal swabs were collected from preclinical and clinical medical students attending the college during the study period. The specimens were tested for 16 viral and nine bacterial pathogens using a real-time polymerase chain reaction assay. Results: A total of 352 nasopharyngeal swabs were collected from 287 students; of these, 22 (7.7%) had pharyngitis symptoms. Overall, the most common isolates were human rhinovirus, Streptococcus pneumoniae and Haemophilus influenzae, with no significant differences in terms of gender, year of study or stage of study. The prevalence of S. pyogenes in asymptomatic and symptomatic students was 1.1% and 0%, respectively. A Centor score of ≥2 was not associated with S. pyogenes-positive samples. Six pathogens were isolated from symptomatic students including H. influenzae. Fusobacterium necrophorum was not detected in any of the samples. Conclusion: The diagnosis and management of pharyngitis should be tailored to common pathogens in the region. This study found that S. pyogenes and F. necrophorum were not detected among students with symptoms of pharyngitis; moreover, Centor scores of ≥2 were not associated with the presence of S. pyogenes. This cut-off score therefore should not be employed as an empirical measure to initiate penicillin therapy in this population.Keywords: Pharyngitis; Pharynx; Asymptomatic Infections; Carrier State; Fusobacterium necrophorum; Streptococcus pyogenes; Penicillins; United Arab Emirates

Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down’s Syndrome

Objectives: Autoimmune diseases are known to occur in people with Down’s syndrome (DS), especially celiac disease, type 1 diabetes mellitus (DM), and hypothyroidism. Since there are common genetic risk factors involved in the occurrence of these autoimmune disorders, the risks would differ in different populations. We sought to determine the prevalence of type 1 DM, celiac disease, and hypothyroidism in Emirati patients with DS in Abu Dhabi, UAE. Methods: Ninety-two patients with DS were investigated for the presence of anti-thyroid antibodies, antithyroglobulin, and anti-thyroid peroxidase antibodies for hypothyroidism, anti-glutamic acid decarboxylase antibodies for type 1 DM, and anti-tissue transglutaminase immunoglobulin A antibodies for celiac disease. Results: Karyotyping was performed on 89 patients. Eighty-seven had non-disjunction of chromosome 21 (97.8%), one was a mosaic, and one had translocation. Of the patients studied, 19.6% had hypothyroidism, 4.3% had type 1 DM, and 1.1% had celiac disease. Out of the 92 patients studied, 66 (71.7%) did not have any autoimmune disease, 25 (27.2%) had one autoimmune disease, and one (1.1%) had two autoimmune diseases. Conclusions: Celiac disease was the least prevalent autoimmune disease in patients with DS patients, while type 1 DM and hypothyroidism were both significantly associated with DS

Distribution of Cardiometabolic Risk Factors in School-Aged Children with Excess Body Weight in the Al Ain City, United Arab Emirates: A Cross-Sectional Study

(1) Background: This study aimed to examine the distribution of cardiometabolic risk factors (CMRF) in school-aged children with excess body weight (overweight and obese) in Al Ain City, United Arab Emirates and identify the factors associated with increased cardiovascular risk factors between boys and girls. (2) Methods: A cross-sectional survey of children aged 6–17 years was conducted in Al Ain from 1 August 2019 to 31 December 2020. Binary logistic regression analysis was performed to investigate the relationship between excess body weight and CMRF between the groups and reported odds ratios (OR) with 95% confidence intervals (CI). (3) Results: A total of 966 school-aged children (490 boys and 476 girls) participated in the study, and the mean age of the children was 11.8 ± 2.9 years. The proportions of overweight and obesity were 13.5% and 10.2% in boys and 11.1% and 10.3% in girls. Higher glucose of ≥100 mg/dL (26.4%), triglycerides of ≥150 mg/dL and low-density lipoprotein cholesterol: ≥130 mg/dL (23.2%) were more prevalent in children with excess body weight. These children were at least two times more likely to have higher triglycerides levels, high total cholesterol (≥200 mg/dL) in girls (OR:2.06, 95% CI: 1.01–4.21) and low high-density lipoprotein (<35 mg/dL) in boys (OR: 2.20; 95% CI: 1.12–4.31). (4) Conclusions: Excess body weight in school-aged children was associated with increased CMRF, particularly triglycerides

Exploring vaccine hesitancy among healthcare providers in the United Arab Emirates: a qualitative study

Healthcare providers (HCPs) are at the frontline to curb the spread of vaccine hesitancy in the community. However, HCPs themselves may delay or refuse vaccines. In light of the emerging vaccine hesitancy in the United Arab Emirates (UAE), we aimed to explore HCPs doubts and concerns regarding vaccination. We conducted face-to-face interviews with 33 HCPs from 7 ambulatory healthcare services in the Al Ain region, UAE. An interview guide was developed based on the European Center for Disease Prevention and Control guide for vaccine hesitancy among HCPs. An inductive thematic framework was employed to explore the main and emerging themes conceptualizing the predisposing, reinforcing, and enabling factors that influence HCPs’ hesitancy regarding vaccinations for themselves and while recommending, prescribing, or discussing vaccines with their patients. The sample included general practitioners, family physicians, nurses, pharmacists, and other administrative staff. The major themes included positive predisposing factors such as trust in the system and the government, previous education, and social responsibility. Positive enabling factors included affordability and availability of vaccination services. Many participants were hesitant to receive the mandatory influenza vaccination. Misinformation regarding vaccines on social media was a major concern. However, HCPs showed little interest in being active on social media. Most participants reported never receiving any training on how to address vaccine hesitancy among patients. Because HCPs play an important role in influencing patients’ decisions regarding undergoing vaccination, their confidence in addressing vaccine hesitancy must be improved

Dyslipidemia, subclinical inflammation, hepatic cholestasis and endothelial dysfunction in schoolchildren with excess fat: A study from the United Arab Emirates.

BackgroundThe impact of obesity on cardiovascular health of young children is still to be fully illustrated. This study measured biomarkers for glycemic control, lipid metabolism, systemic inflammation, endothelial dysfunction, and hepatic cholestasis in schoolchildren. Its main purpose was to determine whether metabolic derangements could be detected in young children with excess fat.MethodThis cross-sectional study involved 967 children in the second, sixth, and tenth grades (median age, 7.3, 11.3, and 15.4 years, respectively). Using the International Obesity Task Force interpretation (IOTF) of body-mass-index (BMI), children were stratified as thin (ResultsPrevalence of BMI≥85th centile among the second graders was 13.1%, sixth graders 42.2%, and tenth graders 33.8%. BMI≥85th centile was associated with a tendency for higher hemoglobin A1c (p≥0.160) and higher blood glucose (p≥0.197). For the second graders, BMI≥85th centile was associated with higher high-sensitivity C-reactive protein (hs-CRP, pConclusionsThe studied children with excess fat had increased risks for developing systemic inflammation, dyslipidemia, endothelial dysfunction, cholestasis, and diabetes. These results suggest that metabolic biomarkers should be included in the routine assessment of children with an overweight problem

Vaccine hesitancy and its determinants among Arab parents: a cross-sectional survey in the United Arab Emirates

Background: Vaccine hesitancy is a leading threat to public health. It has been studied extensively in North America and Europe but much less in Arab countries. The Parent Attitudes about Childhood Vaccines (PACV) survey is a validated tool for identifying vaccine-hesitant parents; however, Arabic version is not available. This study aimed to assess the reliability of the PACV survey in the Arabic language and to determine the prevalence of vaccine hesitancy among parents in the United Arab Emirates (UAE). Methods Forward and backward translation of the PACV in the Arabic language was carried out. The reliability of the Arabic-PACV survey was tested among parents with children. The same survey was used to study vaccine hesitancy among parents attending seven ambulatory health-care services in Al-Ain city, UAE. The associations between vaccine hesitancy and socio-demographic characteristics were explored. Results: The Cronbach alpha for Arabic-PACV scores was 0.79. Three hundred participants answered the survey (response rate, 85.7%). The majority were Emirati mothers (77%) in the age group (30–49 years). Only 36 parents (12%, 95% CI 8.5,16.2) were found to be vaccine-hesitant. Parent’s greatest concerns were mainly the side effects (35%), safety of vaccines (17% unsure and 28% concerned) and getting too many injections (28%). Divorced marital status was significantly associated with vaccine hesitancy (p < .001). Conclusion: The Arabic-PACV survey could serve as a tool in the evaluation of vaccine hesitancy among parents in UAE and other Arabic-speaking countries. Many parents in our community were concerned about the vaccine safety. Targeted preventive measures are needed

An Exploratory Study of Software Sustainability at Early Stages of Software Development

Sustainability incorporation within the field of Software Engineering is an emerging research area. Sustainability, from an academic perspective, has been addressed to a large extent. However, when it comes to the software industry, the topic has not received much-needed attention. Software, being designed and developed in the industry, can benefit society at large, if sustainability is taken into account by the software professionals during the software design and development process. To develop a sustainable software application, knowledge and awareness about sustainability by professional software developers is one of the key elements. This study is an attempt to examine sustainability knowledge, importance, and support from the perspective of South Asian software professionals. Additionally, this study also proposes sustainability guidelines for certain software applications and also a catalog for the identification of sustainability requirements for different software applications. The queries such as ‘What does sustainability mean to a professional software developer?’, ‘How does the software industry identify sustainability requirements?’, ‘How do software developers incorporate the sustainability parameters within software during software development?’, and many other such queries are addressed in this study. To achieve this goal, a survey was carried out among 221 industry practitioners involved in software projects in various application domains such as banking, finance, and management applications. The results pinpoint that even though sustainability is deemed important by 91% of practitioners, still there is a lack of understanding regarding sustainability incorporation in software development. A total of 48% of professionals often misunderstand “Green software” as “sustainable software”. The technical aspect of sustainability is considered most important by professionals (67%) as well as companies (77%). One of the key findings of this study is that 92% of software practitioners are not able to identify sustainability requirements for software applications. The outcomes of the study may be regarded as an initial attempt towards how sustainability is comprehended in software by the South Asian software industry

An Exploratory Study of Software Sustainability at Early Stages of Software Development

Sustainability incorporation within the field of Software Engineering is an emerging research area. Sustainability, from an academic perspective, has been addressed to a large extent. However, when it comes to the software industry, the topic has not received much-needed attention. Software, being designed and developed in the industry, can benefit society at large, if sustainability is taken into account by the software professionals during the software design and development process. To develop a sustainable software application, knowledge and awareness about sustainability by professional software developers is one of the key elements. This study is an attempt to examine sustainability knowledge, importance, and support from the perspective of South Asian software professionals. Additionally, this study also proposes sustainability guidelines for certain software applications and also a catalog for the identification of sustainability requirements for different software applications. The queries such as &lsquo;What does sustainability mean to a professional software developer?&rsquo;, &lsquo;How does the software industry identify sustainability requirements?&rsquo;, &lsquo;How do software developers incorporate the sustainability parameters within software during software development?&rsquo;, and many other such queries are addressed in this study. To achieve this goal, a survey was carried out among 221 industry practitioners involved in software projects in various application domains such as banking, finance, and management applications. The results pinpoint that even though sustainability is deemed important by 91% of practitioners, still there is a lack of understanding regarding sustainability incorporation in software development. A total of 48% of professionals often misunderstand &ldquo;Green software&rdquo; as &ldquo;sustainable software&rdquo;. The technical aspect of sustainability is considered most important by professionals (67%) as well as companies (77%). One of the key findings of this study is that 92% of software practitioners are not able to identify sustainability requirements for software applications. The outcomes of the study may be regarded as an initial attempt towards how sustainability is comprehended in software by the South Asian software industry