Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

Al-Jasmi, Fatma; Tawfig, Nafisa; Berniah, Ans; Ali, Bassam R.; Taleb, Mahmoud; Hertecant, Jozef; Bastaki, Fatma; Souid, Abdul‐Kader

doi:10.1007/8904_2012_182

Cited by 45 publications

(46 citation statements)

References 21 publications

(13 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is also supported by recent reports on late‐onset forms of Krabbe disease . The overall live birth prevalence of LSDs in several countries has been reported during the last 15 years , with figures ranging from 7.6 to 26.9 per 100 000 live births.…”

Section: Introductionsupporting

confidence: 75%

Epidemiology of lysosomal storage diseases in Sweden

et al. 2014

View full text Add to dashboard Cite

show abstract

Section: Introductionsupporting

confidence: 75%

Epidemiology of lysosomal storage diseases in Sweden

et al. 2014

View full text Add to dashboard Cite

show abstract

“…Recent decades have witnessed a burgeoning of clinical interest in understanding the genetic basis of disease . Genetic diseases, such as hemoglobin disorders, inherited metabolic diseases, neuro-genetic disorders and birth defects, are common among Arab populations, particularly in the United Arab Emirates, likely as a result of the relatively high rate of consanguineous marriages (Tadmouri et al 2009;Bayoumi and Yardumian 2006;Al-Gazali and Ali 2010;Al-Jasmi et al 2013). The high prevalence of non-communicable diseases in the population has also led to an increase in genetic research studies in an effort to identify specific mutations and genetic aberrations (Al-Gazali and Ali 2010).…”

mentioning

confidence: 99%

Informed Consent Form Challenges for Genetic Research in a Developing Arab Country with High Risk for Genetic Disease

Nair

Ibrahim

2014

Journal of Genetic Counseling

View full text Add to dashboard Cite

The prevalence of genetic disease is high in the Middle East, particularly in the United Arab Emirates. Our study assesses the information provided in, and the readability ease of, informed consent forms (ICF) for genetic research studies. A multicenter retrospective cross-sectional review of 54 ICFs was conducted to assess compliance by comparing them with standard good clinical practice guidelines for developing consent forms. Readability of the forms was determined using the Flesch-Kincaid scale. Overall Good Clinical Practice compliance for the ICFs averaged at 63 %. Information regarding privacy, confidentiality, specimen collection and storage were absent from the majority of the ICFs. Readability ease score was low (36.7 ± 4.6) and required college-level (11.8 ± 1.4) reading skills to understand the information. Our study highlights the need to improve the readability and information contained in the ICFs for genetic research studies in our setting. Our findings may be generalized to similar cultures in the Middle East and Asia.

show abstract

“…Twenty out of 40 key opinion leaders (KOL) and patient organisations (POR) responded to our communications (50%) of which 9 provided data (23%). Two KOL’s provided additional data not included in their publications [ 25 , 26 ]. Analysis of the included data indicated that 4 KOL and 11 published studies provided data for cases or prenatal diagnoses which could not be used to calculate prevalence and were excluded (summarised in Additional file 4 ).…”

Section: Resultsmentioning

confidence: 99%

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Leadley

Lang

Misso

et al. 2014

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundMorquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.PurposeTo prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases.MethodsMedline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively.ResultsIn total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity.ConclusionsThe review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0173-x) contains supplementary material, which is available to authorized users.

show abstract

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

Abstract: Lysosomal storage disorders (LSD) are rare entities of recessive inheritance.

Cited by 45 publications

References 21 publications

Epidemiology of lysosomal storage diseases in Sweden

Epidemiology of lysosomal storage diseases in Sweden

Informed Consent Form Challenges for Genetic Research in a Developing Arab Country with High Risk for Genetic Disease

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Contact Info

Product

Resources

About