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BACKGROUND: Circulating ceramide (Cer) drives various pathological processes associated with cardiovascular diseases, liver illness, and diabetes mellitus. Although recognized as predictors of cardiometabolic diseases (CMD) in research and clinical settings, their potential for predicting CMD risk in individuals under 18 remains unexplored. OBJECTIVES: This study was designed to utilize Liquid Chromatography-Mass Spectrometry (LC-MS/MS) methodology to determine the biological reference ranges for Cer in plasma samples of Emirati children and develop a risk assessment score (CERT-1) based on Cer concentrations. METHODS: Using LC-MS/MS, we developed a method to measure five Cer species in plasma samples of 582 Emirati participants aged 5-17. We used the circulating concentrations of these Cer to determine their reference intervals in this population. We employed traditional statistical analyses to develop a risk score (CERT-1) and assess the association between Cer levels and conventional biomarkers of CMD. RESULTS: We validated a high-throughput methodology using LC-MS/MS to quantify five Cer species in human plasma. Reference values for this population (n = 582) were quantified: CerC16:0 (0.12-0.29 µmol/L), CerC18:0 (0.019-0.067 µmol/L), CerC22:0 (0.102-0.525 µmol/L), CerC24:0 (0.65-1.54 µmol/L) and CerC24:1 (0.212-0.945 µmol/L). We devised a risk assessment score (CERT-1) based on plasma Cer content in the study participants, showing that 72.5% have low to moderate risk and 9.3% are at a higher risk of developing CMD. Our analyses also revealed a significant correlation (P < 0.05) between this score and the conventional risk factors linked to CMD, indicating its potential clinical implication. CONCLUSION: This study presents a clinical-scaled LC-MS/MS methodology for assessing clinically relevant Cer, setting reference ranges, and developing a risk score (CERT-1) for young Emirati individuals. Our findings can enhance primary risk prediction and inform the management and follow-up of CMD from an early age.
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Factores de Riesgo Cardiometabólico , Ceramidas , Niño , Humanos , Adolescente , Cromatografía Liquida/métodos , Emiratos Árabes Unidos/epidemiología , Espectrometría de Masas en Tándem/métodosRESUMEN
BACKGROUND: Little is known about the etiology of childhood diarrhea in the United Arab Emirates (UAE) especially after the introduction of rotavirus vaccines. This study aimed to identify gastrointestinal pathogens in children with diarrhea (cases) and the carriage rate of these pathogens in asymptomatic children (controls). METHODS: Stool samples were collected from 203 cases and 73 controls who presented to two major hospitals in Al Ain city, UAE. Samples were analyzed with Allplex™ Gastrointestinal Full Panel Assay for common entero-pathogens. The association between diarrhea and the isolated pathogens was calculated in a multivariate logistic regression model. The adjusted attributable fractions (aAFs) were calculated for all pathogens significantly associated with cases. RESULTS: At least one pathogen was identified in 87 samples (42.8%) from cases and 17 (23.3%) from controls (P < 0.001). Rotavirus, norovirus GII and adenovirus were significantly more prevalent in cases. Their aAFs with 95% ci are 0.95 (0.64, 1.00) for rotavirus, 0.86 (0.38, 0.97) for norovirus GII and 0.84 (0.29, 0.96) for adenovirus. None of the 13 bacteria tested for were more commonly found in the cases than in controls. Cryptosporidium spp. were more significantly detected in cases than in controls. Co-infections occurred in 27.9% of the children. Viruses and parasites were significantly more likely to occur together only in the cases. CONCLUSIONS: Multiplex PCR revealed high positivity rates in both cases and controls which demand a cautious interpretation. Rotavirus remains the main childhood diarrhea pathogen in UAE. Effective strategies are needed to better control rotavirus and other causative pathogens.
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Infecciones por Adenovirus Humanos/epidemiología , Adenovirus Humanos/genética , Infecciones por Caliciviridae/epidemiología , Coinfección/epidemiología , Criptosporidiosis/epidemiología , Cryptosporidium/genética , Diarrea/epidemiología , Norovirus/genética , Infecciones por Rotavirus/epidemiología , Rotavirus/genética , Infecciones por Adenovirus Humanos/virología , Adenovirus Humanos/aislamiento & purificación , Animales , Infecciones por Caliciviridae/virología , Estudios de Casos y Controles , Preescolar , Coinfección/parasitología , Coinfección/virología , Criptosporidiosis/parasitología , Cryptosporidium/aislamiento & purificación , Diarrea/parasitología , Diarrea/virología , Heces/parasitología , Heces/virología , Femenino , Humanos , Lactante , Masculino , Reacción en Cadena de la Polimerasa Multiplex/métodos , Norovirus/aislamiento & purificación , Rotavirus/aislamiento & purificación , Infecciones por Rotavirus/virología , Vacunas contra Rotavirus , Emiratos Árabes Unidos/epidemiologíaRESUMEN
Objective: The United Arab Emirates (UAE), with its characteristic local population, geography, and history, presents several risk factors for cardiovascular diseases (CVDs) in obese individuals. Obesity and its associated complications, including diabetes, atherogenic dyslipidemia, and CVDs leading to significant health risks. In the present study, "Youths" defined as young people between 18 and 22 years. We assessed dyslipidemia, inflammation, and oxidative stress biomarker levels and their association with endothelial dysfunction (ED) in both overweight/obese and normal weight youths of UAE. Methods: There were 160 youths with overweight/obese (BMI ≥ 25 kg/m2) patients and healthy age- and sex-matched normal weight (BMI ≤ 24.9 kg/m2) as controls participated in this study. The anthropometric data and blood samples were collected to assess the biomarkers for dyslipidemia, inflammation, oxidative stress, ED from all the youths. Results: The overall mean age and male-to-female ratio were 20±1.5years and 1.0:1.2, respectively. There was statistically significant difference in HDL-C (p<0.001), triglycerides (TG) (p<0.001), ApoA (p=0.002), ApoB/ApoA ratio (p=0.009) between the overweight/obese and normal weight youths. Among, inflammatory markers: hs-CRP, IL-6, TNF-α also showed significant p<0.001 and oxidative stress markers: DNA/RNA Damage, catalase and nitric oxide (NO) showed significant p<0.001 between groups. Spearman correlation of ED markers with lipid profile markers showed Vitamin C levels positively correlated with HDL-C (p<0.001) and negatively correlated with glucose (p<0.001). ICAM-1showed significant negative correlation with HDL-C (p<0.01) and ApoA (p<0.001) but positive correlation with TG (p<0.01) and HbA1c (p<0.001) among groups. Spearman correlation of ED markers with inflammatory/oxidative stress biomarkers showed Vitamin C levels negatively correlated with ferritin (p < 0.001), NO (p < 0.001), GGT (p < 0.001), and ALT (p < 0.001) levels. The ICAM-1showed significant positive correlation with hs-CRP (p < 0.01), IL-6 (p < 0.001), TNF-α (p < 0.01), GGT (p < 0.05), and ALT (p < 0.05) in both groups. Conclusion: This study revealed a strong link between the biomarkers of dyslipidemia, inflammation, and oxidative stress with ED in overweight/obese patients. This study might be used to predict future cardiovascular events in this population.
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OBJECTIVES: When measuring physicians' competencies, there is no consensus as to what would constitute an optimum exposure in unintentional pediatric poisoning. In the absence of universal protocols and poison centers' support, the behavior responses of the physicians can vary depending on their exposure to cases. We sought to determine if there was a correlation between the case exposure and physicians' behavior choices that could affect quality and cost of care. METHODS: A cross-sectional study was conducted in 2010, and a self-reporting survey questionnaire was given to the physicians in the pediatric emergency departments and primary care centers in the city of Al Ain. The physicians' responses were plotted against (a) the number of cases the physicians have had managed in the preceding 12 months and (b) the number of years the physicians have had been in practice RESULTS: One hundred seven physicians partook in the survey. We found that the physicians who had managed more than 2 cases of childhood poisoning in the preceding year chose significantly more positive behavior responses when compared with those who had managed 2 cases or less. There was no significant difference when the responses were measured against the physicians' number of years of practice. CONCLUSIONS: Physicians' practice effectiveness may improve if they manage at least 3 cases of childhood poisoning in a year. Physicians training modules could be developed for those physicians who do not get the optimum exposure necessary in improving physicians' behaviors associated with effective quality and cost efficiency.
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Servicios de Salud del Niño , Competencia Clínica , Servicio de Urgencia en Hospital , Pediatría , Intoxicación , Pautas de la Práctica en Medicina/estadística & datos numéricos , Atención Primaria de Salud , Atención Secundaria de Salud , Atención Terciaria de Salud , Adulto , Actitud del Personal de Salud , Niño , Servicios de Salud del Niño/economía , Conducta de Elección , Competencia Clínica/economía , Estudios Transversales , Servicio de Urgencia en Hospital/economía , Femenino , Adhesión a Directriz , Encuestas de Atención de la Salud , Humanos , Curva de Aprendizaje , Masculino , Persona de Mediana Edad , Padres , Admisión del Paciente , Pediatría/economía , Intoxicación/diagnóstico , Intoxicación/economía , Intoxicación/terapia , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/economía , Atención Primaria de Salud/economía , Relaciones Profesional-Familia , Atención Secundaria de Salud/economía , Encuestas y Cuestionarios , Atención Terciaria de Salud/economía , Factores de Tiempo , Emiratos Árabes UnidosRESUMEN
OBJECTIVE: Inflammation is a major factor in endothelial dysfunction (ED) which is the earliest predictor of cardiovascular disease and premature mortality in type 1 diabetes mellitus (T1DM) patients. This study aimed to describe the possible relationship between plasma lipids and inflammatory and ED biomarkers in young Emirati patients with and without T1DM. METHODS: This case-control study included 158 patients with T1DM and 157 healthy controls from the local population of the United Arab Emirates (UAE). Anthropometric data, clinical variables, lipid profiles, liver enzymes, HbA1c, inflammatory, and ED biomarkers were measured for all participants using sophisticated techniques and assays. RESULTS: The mean ages ± SD of patients with T1DM and healthy controls was 19.3 ± 6.4 years (59.5% females) and 9.2 ± 6.8 years (61.5% females), respectively. The mean duration of T1DM was 9.3 ± 5.7 years, with HbA1c of 8.9 ± 2.1%. BMI, WC, SBP, and DBP significantly differed between the two groups. The mean lipid profiles (HDL, TG, TC, ApoA, and ApoB), liver enzymes (GGT, ALT), inflammatory (IL-6, adiponectin, TNF-α, hs-CRP), and ED biomarker levels (ICAM-1, VCAM-1, selectin, and ET-1) were also significantly different between patients and controls. Based on Spearman's rank and logistic regression analysis, there was a significant association between elevated lipid profile, liver enzymes, inflammatory markers, and ED markers in T1DM patients compared to controls. Among the biomarkers studied, ApoA, ApoB, and TC were significantly increased in T1DM patients compared to controls. CONCLUSION: This study revealed a strong association between an elevated lipid profile and inflammatory and ED markers with T1DM, which could lead to cardiovascular events in the UAE population.
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(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.
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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.
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Conocimientos, Actitudes y Práctica en Salud , Vacunas , Personal de Salud , Humanos , Emiratos Árabes Unidos , VacunaciónRESUMEN
Although some serum biomarkers are elevated in both Kawasaki disease (KD) and infections, these conditions have not been compared by individual or combined biomarkers. The aim of this study, undertaken between January 2016 and May 2018 in a large teaching hospital, was to compare the serum concentration of cytokines, metalloproteinases (MMP) and heat shock protein (HSP) between cases defined as children with Kawasaki disease (KD) and those with febrile infections (controls). Serum concentrations of tumour necrosis factor-alpha (TNF-alpha), interleukins (IL 1beta, 6, and 8), heat shock proteins (HSP 60 and 70) and matrix metalloproteinase (MMP 9) were measured on admission in 17 children under six years of age with a temperature >38.5 °C for ≥five days, and compared between the two groups. The median age was 25 months and the median duration of fever eight days. Seven children were diagnosed with KD and ten had a febrile infection. Only the serum concentrations of IL-6 and TNF-alpha were significantly higher in the former than in the latter group (P = 0.01 and 0.04 respectively). To differentiate between the two groups with the best sensitivity and specificity, the optimal cut-off value for IL-6 was 12.6 pg/mL, and for TNF-alpha 47.9 pg/mL. Their combined increase, however, outperformed their individual concentrations. The characteristic diagnostic "signature" of the combined elevation of IL-6 and TNF-alpha serum levels has the potential, in febrile children, to differentiate early KD from febrile infections, allowing the institution of appropriate therapy.
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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.
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Árabes , Aceptación de la Atención de Salud , Vacunas , Adulto , Niño , Estudios Transversales , Europa (Continente) , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Persona de Mediana Edad , América del Norte , Padres , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Emiratos Árabes Unidos , VacunaciónRESUMEN
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.
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Enfermedades Nasofaríngeas/microbiología , Estudiantes de Medicina/estadística & datos numéricos , Adolescente , Estudios de Cohortes , Femenino , Fusobacterium necrophorum/aislamiento & purificación , Humanos , Masculino , Prevalencia , Streptococcus pyogenes/aislamiento & purificación , Emiratos Árabes Unidos , Universidades/organización & administración , Universidades/estadística & datos numéricos , Adulto JovenRESUMEN
BACKGROUND: The 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. METHOD: This 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 (<5th centiles), normal (5th to <85th centiles), overweight (85th to <95th centiles), obese (95th to <98th centiles), or extremely-obese (≥98th centiles). Waist circumference was also measured. Several metabolic determinations were then used as surrogate biomarkers for cardiovascular risks. RESULTS: Prevalence 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, p<0.001), higher tumor necrosis factor-α (TNF-alpha, p<0.001), higher interleukin-6 (IL-6, p<0.001), higher soluble intercellular cytoadhesive molecule-1 (sICAM-1), higher triglycerides (p≤0.024), and lower high-density lipoprotein (HDL, p<0.001). Additionally, for the sixth and tenth graders, BMI≥85th centile was associated with higher gamma-glutamyl transferase (GGT, p<0.001). In the sixth graders, BMI≥85th centile was insignificantly changed with sICAM-1 or the soluble vascular cytoadhesive molecule-1 (sVCAM-1). CONCLUSIONS: The 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.
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Colestasis/epidemiología , Dislipidemias/epidemiología , Obesidad/epidemiología , Adolescente , Biomarcadores/sangre , Enfermedades Cardiovasculares/etiología , Niño , Comorbilidad , Estudios Transversales , Endotelio Vascular/fisiopatología , Femenino , Humanos , Inflamación/epidemiología , Masculino , Síndrome Metabólico/epidemiología , Sobrepeso/epidemiología , Factores de Riesgo , Emiratos Árabes Unidos/epidemiologíaRESUMEN
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.
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BACKGROUND: The forced oscillation technique (FOT) allows the quantification of respiratory function, does not require active cooperation and as such is ideally suited for use in young children. The application of the FOT in non-Caucasian populations is limited and it remains unclear if current reference ranges for the FOT in Caucasian children are appropriate for children in the Arabian Peninsula. This study explored the use of the FOT in healthy school-aged children in the United Arab Emirates (UAE). METHODS: Lung function using FOT was assessed in healthy Emirati children aged 4-12 years. Using a validated questionnaires general medical and respiratory histories were obtained. Prediction equations for resistance (Rrs), reactance (Xrs), and area under reactance curve (AX) were calculated and compared to previous studies. RESULTS: FOT was successfully obtained in 291 healthy Emirati children. Linear regression modelling including weight, height, age, and gender in transformed FOT outcomes demonstrated that height was the strongest predictor of FOT outcomes (P < 0.001). Using the equated prediction equation Z-scores were calculated. FOT outcomes in Emirati children did not match previously published reference equations in Caucasians children (P < 0.001). CONCLUSION: FOT measurements were feasible in Emirati school-children. New FOT reference equation in Emirati children were derived. FOT reference equation in Emirati children was different from published equations in Caucasians.
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Respiración , Peso Corporal , Niño , Preescolar , Femenino , Humanos , Modelos Lineales , Masculino , Grupos de Población , Valores de Referencia , Pruebas de Función Respiratoria/métodos , Emiratos Árabes UnidosRESUMEN
This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence resulted from the frequent consanguineous marriages (81.5%) among affected families. The following eight disorders accounted for 80% of the entities: biotinidase deficiency (14 of 55), phenylketonuria (11 of 55), 3-methylcrotonyl glycinuria (9 of 55), medium-chain acyl-CoA dehydrogenase deficiency (4 of 55), argininosuccinic aciduria, glutaric aciduria type 1, glutaric aciduria type 2, and methylmalonyl-CoA mutase deficiency (2 of 55 each). Mutation analysis was performed in 48 (87%) of the 55 patients, and 33 distinct mutations were identified. Twenty-nine (88%) mutations were clinically significant and, thus, could be included in our premarital screening. Most mutations were homozygous, except for the biotinidase deficiency. The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity. Thus, the high prevalence of IEM in our region is amenable to newborn and premarital screening, which is expected to halt most of these diseases.
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BACKGROUND: Despite living in a sunny country, hypovitaminosis D is common in women of reproductive age in Al Ain, United Arab Emirates (UAE). AIMS AND OBJECTIVES: To establish the prevalence of hypovitaminosis D in adolescent female Emirati nationals and its risk factors. METHODS: This was an analytical prospective cohort study of 350 female Emirati nationals aged 11-18 years attending public schools in Al Ain. Socio-economic status, diet and amount of sun exposure were evaluated by face-to-face interviews. Serum total 25 (OH) vitamin D (D2 + D3) levels were measured by electrochemiluminescence assay. The prevalence of hypovitaminosis D was calculated and the association with risk factors analysed. RESULTS: Data were complete for 293 girls. Only one girl [prevalence 0.3%, 95% confidence interval (CI) 0.01-1.9] had vitamin D sufficiency (serum vitamin D levels >75 nmol/L). Three girls (1.0%, 95% CI 0.2-2.9) had vitamin D insufficiency (50-75 nmol/L), 58 (19.8%, 95% CI 15.0-25.5) were deficient (27.5-50 nmol/L) and 231 (78.8%, 95% CI 68.9-89.6) had severe deficiency (<27.5 nmol/L). Serum vitamin D levels declined between the ages of 11 and 13 years before progressively rising until the age of 18 years but without regaining the levels they were at the age of 11. There was no statistically significant difference between the vitamin D status groups in age, body mass index, accommodation type, family income, percentage of surface area unexposed to the sun when outdoors, consumption of oily fish or total vitamin D intake. CONCLUSION: The finding of a high prevalence of hypovitaminosis D in adolescent females in UAE is of serious concern for their health and that of their infants during their reproductive lives. Adolescent girls with a similar social and cultural background currently living in less sunny, industrialised countries might also be at risk.
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Deficiencia de Vitamina D/epidemiología , Adolescente , Niño , Colecalciferol/sangre , Estudios de Cohortes , Estudios Transversales , Ergocalciferoles/sangre , Femenino , Humanos , Mediciones Luminiscentes , Prevalencia , Estudios Prospectivos , Emiratos Árabes Unidos/epidemiologíaRESUMEN
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.