Dataset Information

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

ABSTRACT: Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence of a "founder" mutation in isolated communities with a high degree of consanguinity (e.g., tribes in the Middle East North Africa, MENA, region) is expected to lead to unusually high disease prevalence. The primary aim of this study was to estimate the prevalence of LSD and report their mutation spectrum in UAE. Between 1995 and 2010, 119 patients were diagnosed with LSD (65 Emiratis and 54 non-Emiratis). Genotyping was performed in 59 (50 %) patients (39 Emirati from 17 families and 20 non-Emiratis from 17 families). The prevalence of LSD in Emiratis was 26.9/100,000 live births. Sphingolipidoses were relatively common (9.8/100,000), with GM1-gangliosidosis being the most prevalent (4.7/100,000). Of the Mucopolysaccharidoses VI, IVA and IIIB were the predominant subtypes (5.5/100,000). Compared to Western countries, the prevalence of fucosidosis, Batten disease, and ?-mannosidosis was 40-, sevenfold, and fourfold higher in UAE, respectively. The prevalence of Pompe disease (2.7/100,000) was similar to The Netherlands, but only the infantile subtype was found in UAE. Sixteen distinct LSD mutations were identified in 39 Emirati patients. Eight (50 %) mutations were reported only in Emirati, of which three were novel [c.1694G>T in the NAGLU gene, c.1336 C>T in the GLB1 gene, and homozygous deletions in the CLN3 gene]. Twenty-seven (42 %) patients were clustered in five of the 70 Emirati tribes. These findings highlight the need for tribal-based premarital testing and genetic counseling.

SUBMITTER: Al-Jasmi FA

PROVIDER: S-EPMC3755583 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Al-Jasmi Fatma A FA Tawfig Nafisa N Berniah Ans A Ali Bassam R BR Taleb Mahmoud M Hertecant Jozef L JL Bastaki Fatma F Souid Abdul-Kader AK

JIMD reports 20130101

Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence of a "founder" mutation in isolated communities with a high degree of consanguinity (e.g., tribes in the Middle East North Africa, MENA, region) is expected to lead to unusually high disease prevalence. The primary aim of this study was to estimate the prevalence of LSD and report their mutation spectrum in UAE. Between 1995 and 2010, 119 patients were diagnosed with LSD (65 Emiratis and 54 non-Emiratis). ...[more]

PMID: 23430803

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Project description:Objective:To determine the epidemiology and characteristics of transverse myelitis (TM) and neuromyelitis optica spectrum disorders (NMOSD) in Abu Dhabi, United Arab Emirates. Methods:Retrospective chart review at four large government-run hospitals in Abu Dhabi between 2010 and 2016. Data collected included year of onset, presentation, laboratory results including aquaporin-4 immunoglobulin G (IgG)/myelin oligodendrocyte glycoprotein IgG antibodies and the occurrence of any relapses. Results:A total of 46 individuals were identified. Of these, 23 (50%) were Emirati citizens. Within the overall group including pediatrics, the crude prevalence rate for monophasic TM was 1.0 per 100 000, and for NMOSD was 0.34 per 100 000. Incidence rates within the overall group for TM and NMOSD were 0.18 per 100 000 and 0.05 per 100 000, respectively. For Emirati citizens aged ?20 years, the prevalence rate for monophasic TM was 2.46 per 100 000 and 1.76 per 100 000 for NMOSD, and the incidence was 0.57 per 100 000 and 0.17 per 100 000, respectively. The incidence of monophasic TM and NMOSD within the Emirati pediatric population (aged ?19 years) was 0.18 per 100 000 and 0.06 per 100 000, respectively. The mean age of onset for monophasic TM was 36 years, and for NMOSD was 43 years. Nine patients had a positive aquaporin-4 IgG or anti-myelin oligodendrocyte glycoprotein IgG antibody result. Of the 30 participants with available laboratory cerebrospinal fluid analysis, 36.6% had elevated white blood counts (>5.0 × 106/L), and 43% had elevated protein levels. A total of 19 participants had documentation of oligoclonal bands or IgG index, and just four (21%) had either oligoclonal bands or elevated IgG index. Conclusion:The present study describes the epidemiology and characteristics of TM and NMOSD among populations in Abu Dhabi. The adult prevalence rate for Emirati citizens was 2.46 per 100 000 for monophasic TM, and 1.76 per 100 000 for NMOSD. The overall incidence was 0.18 per 100 000 and 0.05 per 100 000, respectively.

Project description:Introduction:Globally, vitamin D deficiency is one of the most common deficiencies, affecting nearly half the world's population. The objective of this survey was to assess and compare the knowledge about vitamin D and the perceived state of health in Emirati and international tourist female students in Dubai, United Arab Emirates (UAE). Methods:This is a cross-sectional study that took place in universities in Dubai, United Arab Emirates. This survey consisted of 17 multiple choice questions and was adapted from a study recently conducted in Poland. The first part of the survey assessed levels of supplementation, diet and UV exposure. Another section evaluated the participants' self-assessed state of health in terms of vitamin D testing, symptoms related to vitamin D deficiency and general welbeing. The collected data were statistically analyzed using SPSS statistics for windows version 26.0 (SPSS Inc., Chicago, IL, United States). Statistical significance was set at P < 0.05. Results:105 respondents were Emiratis and 65 were international students. The average age was 21, with an average BMI 23.3 kg/m2. Almost one-third of each group reported using Vitamin D supplements once weekly. The vast majority of both groups reported rarely getting tanned. Almost all participants in both groups reported regular consumption of Vitamin D rich foods. In both groups, more than half reported consuming milk and cheese regularly and up to one-third reported consuming fish in a regular manner. Although more than half of the students rated their health as good; more than two-thirds reported experiencing muscle pain; only half reported having their blood Vitamin D levels measured once; half reported experiencing problems with concentration and more than three-quarters reported experiencing bad mood in the past month. The prevalence of these symptoms was almost similar across different categories of vitamin D supplementation, tanning habits, dietary intake, or nationality. No statistically significant differences were noted between the Emirati and International tourist students regarding any of the studied variables. Conclusion:Notably, more Emirati students were aware of the association between vitamin D and osteoporosis than International tourist students (40% vs. 21.9%, respectively; p < 0.05). On the other hand, both groups had lower knowledge about the relationship between vitamin D deficiency and depression, Rheumatoid Arthritis and Hypertension, and the optimal vitamin D level; however, no statistically significant differences were noted regarding this knowledge of Emiratis and international students.

Dataset Information

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Publications

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

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