Komara M.,United Arab Emirates University |
Al-Shamsi A.M.,Tawam Hospital |
Ben-Salem S.,United Arab Emirates University |
Ali B.R.,United Arab Emirates University |
Al-Gazali L.,United Arab Emirates University
Journal of Molecular Neuroscience | Year: 2015
Intellectual disability (ID) is a major public health burden on most societies with significant socioeconomic costs. It has been shown that genetic mutations in numerous genes are responsible for a proportion of hereditary forms of ID. NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5). In this study, we recruited an Emirati consanguineous family with a patient diagnosed with ID. Whole-exome sequencing revealed a homozygous variant c.1020delA in NSUN2 gene. The variants segregated in an autosomal recessive mode of inheritance in the family. This variant is novel and causes a frameshift and premature stop codon. At the messenger RNA (mRNA) level, relative expression analysis showed a decreased level of NSUN2 mRNA in the affected child compared to a healthy individual. Mutation prediction analysis and clinical investigation confirmed the pathogenic nature of the identified variant. We therefore conclude that c.1020delA mutation in NSUN2 is most likely the cause of ID in our patient. © 2015, Springer Science+Business Media New York.
El-Hattab A.W.,Tawam Hospital |
Jahoor F.,U.S. Department of Agriculture
Journal of Nutrition | Year: 2017
Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient energy to meet the needs of various organs. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. There is growing evidence that nitric oxide (NO) deficiency occurs in MELAS syndrome and results in impaired blood perfusion that contributes significantly to several complications in this disease. NO is synthesized from arginine by NO synthase, which catalyzes the conversion of arginine to NO and citrulline. Citrulline can be recycled into arginine, and therefore, both arginine and citrulline support NO synthesis. The use of 15N2-arginine and 13C-,2H4-citrulline stable isotope infusion allows measuring arginine flux; citrulline flux; citrulline-to-arginine flux, which represents the de novo arginine synthesis rate; and arginine-to-citrulline flux, which represents the NO production rate. The objective of this review is to highlight the utility of this method in providing additional evidence for NO deficiency in MELAS syndrome, adding more insight into the potential mechanisms of NO deficiency in this syndrome, and allowing for the assessment of the effects of supplementation with the NO donors, arginine and citrulline, on improving NO production in MELAS syndrome. © 2017 American Society for Nutrition.
Dawodu A.,Cincinnati Childrens Hospital Medical Center |
Saadi H.F.,United Arab Emirates University |
Bekdache G.,Tawam Hospital |
Javed Y.,United Arab Emirates University |
And 2 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2013
Background: Vitamin D (vD) deficiency in pregnancy is a global health problem and the amount of vD supplementation to prevent vD deficiency is controversial. Objective: The objective of the study was to determine effectiveness and safety of prenatal 2000 IU and 4000 IU/d compared with 400 IU/d vD3 supplementation in a randomized controlled trial in population in which vD deficiency is endemic. Design/Methods: Arab women were randomized at 12-16 weeks of gestation to 400, 2000, and 4000 IU/d vD3, which were continued to delivery. Serum 25-hydroxyvitamin D [25(OH)D] concentrations were measured during pregnancy and at delivery. The primary outcome was the maternal and cord blood 25(OH)D, and the secondary outcomes were the achievement of sufficient serum 25(OH)D of 32 ng/mL or greater (≥80 nmol/L) at delivery. Setting: The locations were primary care and tertiary perinatal care centers. Results: Of 192 enrolled, 162 (84%) continued to delivery. Mean serum 25(OH)D of 8.2 ng/mL (20.5 nmol/L) at enrollment was low. Mean serum 25(OH)D concentrations at delivery and in cord blood were significantly higher in the 2000 and 4000 IU than the 400 IU/d group (P < .001) and was highest in the 4000 IU/d group. The percent who achieved 25(OH)D greater than 32 ng/mL and greater than 20 ng/mL concentrations in mothers and infants was highest in 4000 IU/d group. Safety measurements were similar by group and no adverse event related to vD supplementation. Conclusions: Vitamin D supplementation of 2000 and 4000 IU/d appeared safe in pregnancy, and 4000 IU/d was most effective in optimizing serum 25(OH)D concentrations in mothers and their infants. These findings could apply to other populations in which vD deficiency is endemic. Copyright © 2013 by The Endocrine Society.
Agarwal M.M.,United Arab Emirates University |
Dhatt G.S.,Tawam Hospital |
Shah S.M.,United Arab Emirates University
Diabetes Care | Year: 2010
OBJECTIVE - To determine the impact of the International Association of Diabetes and Pregnancy Study Group (IADPSG) criteria on 1) gestational diabetes mellitus (GDM) diagnosis compared with the American Diabetes Association (ADA) criteria and 2) the fasting plasma glucose (FPG) to predict GDM. RESEARCH DESIGN AND METHODS - In 10,283 pregnant women undergoing a 75-g oral glucose tolerance test (OGTT) for universal screening of GDM, two FPG thresholds (of the OGTT) were used to rule in and to rule out GDM. RESULTS - The IADPSG and ADA criteria identified GDM in 3,875 (37.7%) women and 1,328 (12.9%) women, respectively (P<0.0005). FPG thresholds of ≥5.1 mmol/l ruled in GDM in 2,975 (28.9%) women with 100% specificity, while <4.4 mmol/l ruled out GDM in 2,228 (21.7%) women with 95.4% sensitivity. FPG independently could have avoided the OGTT in 5,203 (50.6%) women. CONCLUSIONS - The IADPSG criteria increased GDM prevalence nearly threefold. By circumventing a significant number of OGTTs, an initial FPG can greatly simplify the IADPSG diagnostic algorithm. © 2010 by the American Diabetes Association.
Amin A.,United Arab Emirates University |
Amin A.,Cairo University |
Hamza A.A.,United Arab Emirates University |
Bajbouj K.,United Arab Emirates University |
And 2 more authors.
Hepatology | Year: 2011
Saffron has been proposed as a promising candidate for cancer chemoprevention. The purpose of this investigation was to investigate the chemopreventive action and the possible mechanisms of saffron against diethylnitrosamine (DEN)-induced liver cancer in rats. Administration of saffron at doses of 75, 150, and 300 mg/kg/day was started 2 weeks prior to the DEN injection and was continued for 22 weeks. Saffron significantly reduced the DEN-induced increase in the number and the incidence of hepatic dyschromatic nodules. Saffron also decreased the number and the area of placental glutathione S-transferase-positive foci in livers of DEN-treated rats. Furthermore, saffron counteracted DEN-induced oxidative stress in rats as assessed by restoration of superoxide dismutase, catalase, and glutathione-S-transferase levels and diminishing of myeloperoxidase activity, malondialdehyde and protein carbonyl formation in liver. The results of immunohistochemical staining of rat liver showed that saffron inhibited the DEN-mediated elevations in numbers of cells positive for Ki-67, cyclooxygenase 2, inducible nitric oxide synthase, nuclear factor-kappa B p-65, and phosphorylated tumor necrosis factor receptor. Saffron also blocked the depletion in the number of cells positive for TUNEL (terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling) and M30 CytoDeath in liver tissues of DEN-treated rats. In vitro experiments carried out using HepG2 cells also confirmed these findings and showed inhibition of nuclear factor-kappa B activation, increased cleavage of caspase-3, as well as DNA damage and cell cycle arrest upon saffron treatment. Conclusion: This study provides evidence that saffron exerts a significant chemopreventive effect against liver cancer through inhibition of cell proliferation and induction of apoptosis. This report also shows some evidence that saffron protects rat liver from cancer via modulating oxidative damage and suppressing inflammatory response. © 2011 American Association for the Study of Liver Diseases.
El-Hattab A.W.,Tawam Hospital
Molecular Genetics and Metabolism | Year: 2016
l-serine is a non-essential amino acid that is biosynthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its role in protein synthesis, l-serine is a potent neurotrophic factor and a precursor of a number of essential compounds including phosphatidylserine, sphingomyelin, glycine, and d-serine. Serine biosynthesis defects result from impairments of PGDH, PSAT, or PSP leading to systemic serine deficiency. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome, a lethal multiple congenital anomaly disease, intermediately, infantile serine biosynthesis defects with severe neurological manifestations and growth deficiency, and at the mild end, the childhood disease with intellectual disability. A serine transport defect resulting from deficiency of the ASCT1, the main transporter for serine in the central nervous system, has been recently described in children with neurological manifestations that overlap with those observed in serine biosynthesis defects. l-serine therapy may be beneficial in preventing or ameliorating symptoms in serine biosynthesis and transport defects, if started before neurological damage occurs. Herein, we review serine metabolism and transport, the clinical, biochemical, and molecular aspects of serine biosynthesis and transport defects, the mechanisms of these diseases, and the potential role of serine therapy. © 2016 Elsevier Inc.
Radwan H.,Tawam Hospital
BMC Public Health | Year: 2013
Background: Breastfeeding is the preferred method of feeding for the infant. The present study aimed at investigating the different infant feeding practices and the influencing factors in the United Arab Emirates (UAE). Methods. A convenient sample of 593 Emirati mothers who had infants up to 2 years of age was interviewed. The interviews included a detailed questionnaire and conducted in the Maternal and Child Health Centers (MCH) and Primary Health Centers (PHC) in three cities. Results: Almost all the mothers in the study had initiated breastfeeding (98%). The mean duration of breastfeeding was 8.6 months. The initiation and duration of breastfeeding rates were influenced by mother's age (P<0.034)and education(P<0.01), parity(OR=2.13; P<0.001), rooming in(OR=21.70; P<0.001), nipple problem(P<0.010) and use of contraception(P<0.034). As for the feeding patterns, the results of the multiple logistic analyses revealed that rooming in (OR=4.48; P<0.001), feeding on demand (OR=2.29; P<0.005) and feeding more frequently at night (P<0.001) emerged as significant factors associated with exclusive or predominantly breastfeeding practices. Among the 593 infants in the study, 24.1% had complementary feeding, 25% of the infants were exclusively breastfed, and 49.4% were predominantly breastfed since birth. About 30% of the infants were given nonmilk fluids such as: Anis seed drink (Yansun), grippe water and tea before 3 months of age. The majority of the infants (83.5%) in the three areas received solid food before the age of 6 months. A variety of reasons were reported as perceived by mothers for terminating breastfeeding. The most common reasons were: new pregnancy (32.5%), insufficient milk supply (24.4%) and infant weaned itself (24.4%). Conclusions: In conclusion, infant and young child feeding practices in this study were suboptimal. There is a need for a national community-based breastfeeding intervention programme and for the promotion of exclusive breastfeeding as part of a primary public health strategy to decrease health risks and problems in the UAE. © 2013 Radwan.
Hammouda E.I.,Tawam Hospital
International Journal of Clinical Practice | Year: 2011
Introduction: Diabetes mellitus is approaching epidemic proportions in most countries and has captured the attention of physicians at local, national and global levels. The elderly population remains at a higher risk for diabetes mellitus (1), and the disease poses unique concerns for geriatricians, primary care physicians, nurses and specialised pharmacists who provide care to the elderly. Glycaemic control, geriatric-related syndromes and cardiovascular risk factors considerably affect the elderly patient's functional status and life expectancy (2). Geriatric syndromes may include polypharmacy, chronic pain, injurious falls, cognitive impairment, urinary incontinence and depression. Higher rates of premature death; functional disability; and chronic illnesses, such as hypertension, cerebrovascular accidents, dementia and coronary artery disease, often affect elderly diabetic patients. Discussion: Collaborative efforts are continually needed to allocate and maximise utilisation of resources to help empower older adults with diabetes to overcome barriers to disease management. Healthcare providers are increasingly challenged by the complexity of problems that face old patients, and must therefore be prepared to assess and treat diabetes mellitus within the milieu of many geriatric-related chronic illnesses. Healthcare providers must tailor individualised treatment methods, with the ultimate goal of not only achieving laboratory norms but also improving the quality of life for this vulnerable population. Conclusion: There is a need for extra care and overcoming barriers to diabetes control in old patients as a dynamic and a continuous task that needs coordination of healthcare systems and professionals at all levels of care. © 2011 Blackwell Publishing Ltd.
Al-Shibli A.,Tawam Hospital
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia | Year: 2013
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop nephrocalcinosis and progressive renal failure; some of them may have ophthalmologic involvement as well. Phenotypic description of three affected individuals from the same Middle Eastern kindred (two sisters and their cousin) is presented. This includes both clinical and laboratory findings upon initial presentation and subsequent follow-up. Molecular analysis of the CLDN19 gene was performed on the three cases and one set of parents. A novel homozygous missense mutation in CLDN19 (c.241C>T, p.Arg81Cys) was detected in all three affected children. The parents were heterozygous. Clinical and laboratory data in the three children with renal and ocular manifestations of FHHNC are described. Genetic analysis revealed a novel mutation in the CLDN19 gene. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalcuria and hypermagnesuria.
El-Hattab A.W.,Tawam Hospital
Clinics in Perinatology | Year: 2015
Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a high index of suspicion is extremely important for early diagnosis and the institution of appropriate therapy, which are mandatory to prevent death and ameliorate complications from many IEMs. © 2015 Elsevier Inc.