Abu Dhabi, United Arab Emirates
Abu Dhabi, United Arab Emirates

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Deeb A.,Mafraq Hospital | Habeb A.,Prince Mohamed bin Abdulaziz Hospital | Kaplan W.,Tawam Hospital | Attia S.,Mafraq Hospital | And 6 more authors.
American Journal of Medical Genetics, Part A | Year: 2016

Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum of NDM and estimate its incidence in AbuDhabi, capital of the United Arab Emirate (UAE). Patients were identified from the pediatric diabetes clinics and sequencing of known NDM genes was conducted in all families. Twenty-five patients were identified. Incidence during 1985-2013 was 1:29,241 Live births. Twenty-three out of twenty-five had PNDM (incidence 1:31,900) and 2/25 had TNDM (incidence 1:350,903). Eleven out of twenty-five had extra-pancreatic features and three had pancreatic aplasia. The genetic cause was detected in 21/25 (84%). Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes. One TNDM patient had a 6q24 methylation defect and another was homozygous for the INS c-331C>G mutation. This mutation also caused permanent diabetes with variable age of onset from birth to 18 years. The parents of a child with Wolcott-Rallison syndrome had a healthy girl following pre-implantation genetic diagnosis. The child with KCNJ11 mutation was successfully switched from insulin to oral sulphonylurea. The incidence of PNDM in Abu Dhabi is among the highest in the world and its spectrum is different from Europe and USA. In our cohort, genetic testing has significant implications for the clinical management. © 2015 Wiley Periodicals, Inc.


Deeb A.,Mafraq Hospital | Abu-Awad S.,Shaikh Khalifa Medical Center | Abood S.,Mafraq Hospital | El-Abiary M.,Shaikh Khalifa Medical Center | And 5 more authors.
Diabetes Technology and Therapeutics | Year: 2015

Background: Insulin pumps are equipped with advanced functions. Intensive training and adherence are required for optimum use of the technology. We aimed to assess the association of various key elements in insulin pump functions on blood glucose control. Patients and Methods: Patients on insulin pump therapy were enrolled. Insulin pumps were downloaded (CareLink® Pro 3 software; Medtronic Minimed, Northridge, CA), and data were collected over an 8-12-week period. Glycemic control of patients was classified as controlled (hemoglobin A1c [HbA1c] level of 7.5% or less in adults and 8% or less in children) and uncontrolled based on HbA1c level at enrollment. Variables studied were use of sensors and duration, frequency of blood glucose monitoring, Bolus Wizard (Medtronic Minimed) use, frequency of correction boluses, and frequency of cannula changing. Results: Seventy-two patients were enrolled (50 children). Median age was 12 years for children and 27.5 years for adults. Respective median numbers of blood glucose checks were 4.4 and 3.2 for controlled and uncontrolled children (P<0.021) and 3.1 and 2.8 for controlled and uncontrolled adults, respectively. Respective frequency of Bolus Wizard use per day showed a median of 6 and 4.15 for controlled and uncontrolled children (P<0.001) and 3.8 and 3.5 for controlled and uncontrolled adults. Controlled children wore sensors for longer (5 vs. 2.9 days/week) and did more corrections (3.9 vs. 2.5). There was no difference in the frequency of changing the infusion cannula in children's or adults' groups. Conclusions: We conclude that the frequency of blood glucose monitoring and Bolus Wizard use have a favorable association with glycemic control. These observations were more significant in the children's groups. Our data shows that patients with better control tend to bolus more for correction and wear sensors longer. © Mary Ann Liebert, Inc. 2015.


PubMed | Imperial College London, Tawam Hospital, University of Exeter, Prince Mohamed bin Abdulaziz Hospital and 2 more.
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2016

Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum of NDM and estimate its incidence in AbuDhabi, capital of the United Arab Emirate (UAE). Patients were identified from the pediatric diabetes clinics and sequencing of known NDM genes was conducted in all families. Twenty-five patients were identified. Incidence during 1985-2013 was 1:29,241 Live births. Twenty-three out of twenty-five had PNDM (incidence 1:31,900) and 2/25 had TNDM (incidence 1:350,903). Eleven out of twenty-five had extra-pancreatic features and three had pancreatic aplasia. The genetic cause was detected in 21/25 (84%). Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes. One TNDM patient had a 6q24 methylation defect and another was homozygous for the INS c-331C>G mutation. This mutation also caused permanent diabetes with variable age of onset from birth to 18 years. The parents of a child with Wolcott-Rallison syndrome had a healthy girl following pre-implantation genetic diagnosis. The child with KCNJ11 mutation was successfully switched from insulin to oral sulphonylurea. The incidence of PNDM in Abu Dhabi is among the highest in the world and its spectrum is different from Europe and USA. In our cohort, genetic testing has significant implications for the clinical management.

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