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Bonnard C.,Singapore Institute of Medical Biology | Strobl A.C.,UK National Institute for Medical Research | Shboul M.,Singapore Institute of Medical Biology | Lee H.,University of California at Los Angeles | And 11 more authors.
Nature Genetics | Year: 2012

Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis. © 2012 Nature America, Inc. All rights reserved.


Khattab M.,Al al-Bayt University | Khader Y.S.,Jordan University of Science and Technology | Al-Khawaldeh A.,National Center for Diabetes | Ajlouni K.,National Center for Diabetes
Journal of Diabetes and its Complications | Year: 2010

Objectives: Determine factors associated with poor glycemic control among Jordanian patients with Type 2 diabetes. Methods: A systematic random sample of 917 patients was selected from all patients with Type 2 diabetes over a period of 6 months in 2008. A prestructured questionnaire sought information about sociodemographic, clinical characteristics, self-care management behaviours, medication adherence, barriers to adherence, and attitude towards diabetes. Weight, height, and waist circumferences were measured. All available last readings of hemoglobin A1c (HbA1c), fasting blood sugar measurements and lipid were abstracted from patients' records. Poor glycemic control was defined as HbA1c ≥7%. Results: Of the total 917 patients, 65.1% had HbA1c ≥7%. In the multivariate analysis, increased duration of diabetes (>7 years vs. ≤7years) (OR=1.99, P≤.0005), not following eating plan as recommended by dietitians (OR=2.98, P≤.0005), negative attitude towards diabetes, and increased barriers to adherence scale scores were significantly associated with increased odds of poor glycemic control. Conclusion: The proportion of patients with poor glycemic control was high, which was nearly comparable to that reported from many countries. Longer duration of diabetes and not adherent to diabetes self-care management behaviors were associated with poor glycemic control. An educational program that emphasizes lifestyle modification with importance of adherence to treatment regimen would be of great benefit in glycemic control. © 2010 Elsevier Inc. All rights reserved.


Khader Y.S.,Jordan University of Science and Technology | Batieha A.,Jordan University of Science and Technology | Jaddou H.,Jordan University of Science and Technology | Batieha Z.,University of Jordan | And 2 more authors.
International Journal of Pediatric Obesity | Year: 2011

Objective. To estimate the prevalence of overweight and obesity among Jordanian children and adolescents and to determine their association with metabolic abnormalities. Methods. In a national population-based household survey, a systematic sample of households was selected. All members aged ≥ 7 years in the selected households were invited to participate in the study. Of the respondents, 1,034 subjects were 18 years old or younger. Anthropometric and biochemical measurements were obtained. Overweight and obesity were defined according to age and sex specific cut-off points of BMI defined by the International Obesity Task Force criteria proposed by Cole et al. The metabolic abnormalities were defined for subjects, based on their age, according to the definition of Cook et al. and International Diabetes Federation (IDF) criteria. Results. The overall prevalence of overweight and obesity among children were 6.0% and 5.5%, respectively. Among adolescents, the overall prevalence rates of overweight and obesity were 13.7% and 10.0%, respectively. After adjusting for gender and age, overweight was significantly associated with increased odds of having high triglycerides (Odds ratio [OR] = 1.7), low HDL-cholesterol (OR = 1.9), and at least one metabolic abnormality (OR = 2.2). Obesity was significantly associated with increased odds of individual metabolic abnormalities and their clustering. Conclusions. A relatively high proportion of Jordanian children and adolescents had overweight or obesity. Overweight and obesity in children and adolescents were associated with increased odds of metabolic abnormalities and their clustering. Programs addressing eating behavior and physical activity of children and adolescents to maintain a healthy weight are needed in Jordan. © 2011 Informa Healthcare.


Wang S.-K.,University of Michigan | Aref P.,Tehran University of Medical Sciences | Hu Y.,University of Michigan | Milkovich R.N.,University of Michigan | And 5 more authors.
PLoS Genetics | Year: 2013

Enamel-renal syndrome (ERS) is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS), which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.992G>A; g.63853G>A; p.Gly331Asp), family 2 (c.720-2A>G; g.62232A>G; p.Gln241_Arg271del), and family 3 (c.406C>T; g.50213C>T; p.Arg136* and c.1432C>T; g.68284C>T; p.Arg478*). Significantly, a kidney ultrasound of the family 2 proband revealed nephrocalcinosis, revising the diagnosis from AIGFS to ERS. By characterizing teeth extracted from the family 3 proband, we demonstrated that FAM20A-/- molars lacked true enamel, showed extensive crown and root resorption, hypercementosis, and partial replacement of resorbed mineral with bone or coalesced mineral spheres. Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS. © 2013 Wang et al.


Batieha A.,Jordan University of Science and Technology | Khader Y.,Jordan University of Science and Technology | Jaddou H.,Jordan University of Science and Technology | Hyassat D.,National Center for Diabetes | And 4 more authors.
Annals of Nutrition and Metabolism | Year: 2011

Background/Aims: Vitamin D deficiency is highly prevalent worldwide and has been linked to many diseases. The aims of the present study were to assess the vitamin D status of Jordanians at the national level and to identify groups of the population at high risk for vitamin D deficiency. Methods: Vitamin D status was assessed in a national sample of 5,640 subjects aged ≥7 years. The study involved interviews, laboratory measurements of 25(OH)D and others, and physical measurements. The present report deals, exclusively, with subjects aged >18 years. Results: The prevalence of low vitamin D status [25(OH)D <30 ng/ml] was 37.3% in females compared to 5.1% in males. Dress style in females was independently related to low vitamin D status; women wearing 'Hijab' (adjusted OR = 1.7, p = 0.004) or 'Niqab' (adjusted OR = 1.5, p = 0.061) were at a higher risk for low vitamin D status than were western-dressed women. Conclusion: The high prevalence of low vitamin D status in females in contrast with a low prevalence in males, together with a higher prevalence in women wearing Hijab or Neqab, calls for action to increase the population's awareness and to develop strategies to reduce this risk among women, particularly those wearing dress styles that cover most or all of their skin. Copyright © 2011 S. Karger AG, Basel.

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