Kamel Ajlouni

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25. A G-->C transversion at nucleotide 109 predicts an amino acid change from glutamic acid to glutamine (E37Q). Although the amino acid is conserved and the mutation is nonsynonymous, the pathogenesis for the disorder is because the mutation also causes aberrant splicing. The mutation was found to disrupt messenger RNA splicing by eliminating exon 2, and it results in the introduction of a premature stop codon. Mutations in WFS1 have also been found to cause low-frequency nonsyndromic hearing loss, progressive hearing loss, and isolated optic atrophy associated with hearing loss. Screening of 377 probands with hearing loss did not identify mutations in the WFS2 gene. The WFS1-encoded protein, Wolframin, is known to localize to the endoplasmic reticulum and plays a role in calcium homeostasis. The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin. Lymphoblastoid cells from affected individuals show a significantly greater rise in intracellular calcium when stimulated with thapsigargin, compared with controls, although no difference was observed in resting concentrations of intracellular calcium.

Sexual Dysfunction in Jordanian Diabetic Women

OBJECTIVE—To estimate the prevalence of female sexual dysfunction (FSD) in diabetic and nondiabetic Jordanian women. RESEARCH DESIGN AND METHODS—Data were collected from 1,137 married women using the Arabic translation of the Female Sexual Function Index questionnaire. RESULTS—Prevalence of sexual dysfunction in diabetic women 50 years of age or older was 59.6 vs. 45.6% in nondiabetic women (P = 0.003). Diabetic women had more dysfunction of desire, arousal, lubrication, and orgasm than nondiabetic women. Glycemic control, smoking, dyslipidemia, hypertension, autonomic neuropathy, and peripheral neuropathy did not have a significant effect on FSD. Age, BMI, duration of diabetes, and the presence of coronary artery disease, nephropathy, and retinopathy had negative effects on FSD. CONCLUSIONS—Prevalence of FSD among Jordanian women was found to be significantly higher in diabetic compared with nondiabetic women.

Obesity in Jordan.

OBJECTIVES: To study the prevalence of obesity among semi-urban communities in Jordan and its association with a number of factors.DESIGN: A sample of households was systematically selected from four Jordanian towns namely, Sarih, Sikhra, Southern Mazar and Subha-Subhieh. All subjects aged ≥25 y within the selected households, were invited to participate in the study. A total of 2836 subjects were actually included in the study, with an overall response rate of 70.5%. Study procedures were carried out in the local health centres in each town over a one-month period.RESULTS: The overall prevalence of obesity (body mass index, BMI≥30 kg/m2) was 49.7%; 32.7% in males and 59.8% in females. Obesity was more prevalent in the older age groups, illiterate people, diabetic and hypertensive subjects, and those with hypercholesterolaemia (HC), hypertriglyceridaemia (HTG), high level of low density lipoprotein cholesterol (LDL), and low level of high density lipoprotein cholesterol (HDL). After adjusting for age and gender, obesity was associated with diabetes mellitus (DM) (odds ratio (OR) 1.4, 95% confidence limit (CL) 1.1, 1.8), hypertension (HT) (OR 2.2, 95% CL 1.7, 2.8), HC (OR 1.3, 95% CL 1.1, 1.5), HTG (OR 2.3, 95% CL 2.0, 2.8), elevated LDL (OR 1.5, 95% CL 1.2, 1.8) and low HDL (OR 2.3, 95% CL 1.8, 2.9).CONCLUSION: Obesity seems to be a common disorder among adult Jordanians. More attention should be paid to this problem at the national level.

Vitamin D Status in Jordan: Dress Style and Gender Discrepancies

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.

Obesity in Jordan: Prevalence, Associated Factors, Comorbidities, and Change in Prevalence over Ten Years

OBJECTIVES To determine the prevalence of obesity in northern Jordan, identify its associated factors, assess its association with selected comorbidities, and determine how the prevalence of obesity has changed in Jordan over 10 years. METHODS A total of 1121 participants aged 25 years and above were randomly selected. Sociodemographic characteristics as well as information on selected metabolic disorders and their potential risk factors were obtained. Anthropometric and biochemical characteristics were measured. Obesity was defined based on body mass index (BMI), waist circumference, and waist-to-hip ratio. RESULTS The age-standardized prevalence of obesity in northern Jordan was 28.1% (95% CI: 23.4, 32.8) for men and 53.1% (95% CI: 49.3, 57.0) for women. Irrespective of age or measure used, women always had a considerably higher prevalence of obesity than men. The prevalence of obesity varied greatly with age, generally increasing, irrespective of the measurement used. There has been a significant increase in the prevalence of obesity over a period of ten years for both men and women aged 60 years and above only. When important variables were taken into account in logistic regression analyses, obesity was significantly associated with increased odds of having all studied metabolic abnormalities. Female gender, increase in age, being married, former smoker or nonsmoker, and fewer than 12 years of education were significantly associated with increased odds of BMI-defined obesity and high waist circumference. CONCLUSIONS This study demonstrated alarming rates of obesity and of its associated comorbidities among Jordanians, especially among women.

Hypertension Prevalence, Awareness, Treatment and Control, and Associated Factors: Results from a National Survey, Jordan

The study examined prevalence, awareness, treatment and control of hypertension (HTN), and associated factors and to evaluate the trend in hypertension between 2009 (period 2) and 1994–1998 (period 1). A national sample of 4117 adults aged 25 years and older was selected. Prevalence rate of HTN (SBP ≥ 140 or DBP ≥ 90 or on antihypertensive therapy) was 32.3% and was higher than the 29.4% prevalence rate reported in period 1. Prevalence rate was significantly higher among males, older age groups, least educated, obese, and diabetics than their counterparts. The rate of awareness among hypertensives was 56.1% and was higher than the 38.8% rate reported form period 1 data. Awareness was positively associated with age, smoking, and diabetes for both men and women, and with level of education and body mass index for men. Rate of treatment for HTN among aware patients was 63.3% and was significantly higher than the 52.8% rate reported in period1. Control rate of HTN among treated hypertensives was 39.6%; significantly higher than the 27.9% control rate in period 1. Control of HTN was positively associated with age but only for women. In conclusion, HTN is still on the rise in Jordan, and levels of awareness and control are below the optimal levels.

Jordan: Communities and Community Genetics

The population in Jordan mounted from half a million in 1952 to 5.3 millions in 2004 and is composed of a variety of ethnic groups, the majority being Arabs. Couples nowadays tend to have fewer children, with the total fertility rate falling from 7.4 in 1976 to 3.7 in 2004. Consanguineous marriages are traditionally favored, with the preferred marriage partner being the offspring of the father’s brother. First-cousin marriages declined from 28.5% for marriages contracted between 1950 and 1979 to 19.5% for marriages contracted after 1980. In the overall population, carrier rates for β-thalassemia, α-thalassemia and sickle cell anemia are in the range of 2–4%, 3.2–12% of males have glucose-6-phosphate dehydrogenase deficiency, and the prevalences for familial Mediterranean fever and cystic fibrosis were estimated at around 0.04% each. A mandatory premarital screening program for β-thalassemia carriers commenced in June 2004. The high consanguinity rate and the large family size in Jordan have contributed to the description of a number of rare and new autosomal recessive conditions. Genetic services in Jordan are still scarce and do not cover all the country due to the major impediments of a paucity of resources and trained health professionals in the area of medical genetics. The demographic data suggest that the health system in Jordan is capable of introducing some basic community genetic services into the primary health care program through comprehensive and cost-effective programs.

Prevalence of dyslipidemia and its associated factors among Jordanian adults

BACKGROUND Dyslipidemia, which has been closely linked to pathophysiology of cardiovascular diseases, is a key independent modifiable risk factor for cardiovascular diseases. Estimation of the prevalence of dyslipidemia ensures proper planning of health actions for both primary and secondary prevention of cardiovascular diseases. OBJECTIVES To estimate the prevalence of various types of dyslipidemia and determine their associated factors among adults in north of Jordan. METHOD Data were analyzed from a cross-sectional study that included a random sample of 1121 Jordanians aged 25 years and older. High total cholesterol (TC) was defined as TC ≥200 mg/dL and hypertriglyceridemia as serum triglycerides level ≥150 mg/dL. Low high-density lipoprotein cholesterol (HDL-C) was defined as serum HDL-C <40 mg/dL. High low-density lipoprotein cholesterol (LDL-C) was defined as serum LDL-C ≥130 mg/dL. RESULTS Of a total of 1121 subjects, 48.8% had high TC level, 40.7% had high LDL-C, 40.1% had low HDL-C, 43.6% had high triglyceride levels, and 75.7% had at least one abnormal lipid level. Age was associated with high triglycerides, high LDL-C, and high TC. Men were more likely than women to have a high triglycerides level and low HDL-C. Compared with people with a body mass index <25, overweight and obese subjects had greater odds of having high triglycerides, high TC, and low HDL-C. Diabetes was associated with increased odds of high triglycerides only. CONCLUSION The prevalence dyslipidemia is high in Jordan, which necessitates appropriate the institution of community-based intervention strategies to prevent and manage cardiovascular risk factors.

Prevalence of low testosterone levels in men with type 2 diabetes mellitus: a cross‑sectional study

Background: A high prevalence of low serum testosterone (LST) in men with type 2 diabetes have been reported worldwide. The aim of this study was to determine the prevalence and associated factors of LST in men with type 2 diabetes. Materials and Methods: This was a cross-sectional study, conducted among 1,089 men (aged 30-70 years) with type 2 diabetes who consecutively attended a major diabetes center in Amman, Jordan, between August 2008 and February 2009. The patients’ demographic characteristics were collected using a prestructured questionnaire. Duration of diabetes, smoking habits, presence of retinopathy, neuropathy, and nephropathy were collected from the medical records. All participants were asked to complete the Androgen Deficiency in Ageing Male (ADAM) questionnaire. Venous blood sample was collected to test for total testosterone (TT), free testosterone (FT), sex hormone binding globulin (SHBG), follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), serum lipids, and glycosylated hemoglobin (HbA1c). LST was defined as TT <3 ng/ml. Results: Overall, 36.5% of patients with diabetes had TT level <3 ng/ml and 29% had symptoms of androgen deficiency. Of those with serum testosterone level <3 ng/ml, 80.2% had symptoms of androgen deficiency, 16.9% had primary hypogonadism (HG), and 83.1% had secondary HG. Univariate analysis showed a significant relationship between age, income, education, body mass index (BMI), smoking, duration of diabetes, diabetic nephropathy, diabetic neuropathy, and HbA1c. Multivariate logistic regression analysis indicated age, income, BMI, and diabetic neuropathy as the independent risk factors of LST. Conclusions: The prevalence of LST among men with type 2 diabetes is high. Age, income, BMI, and diabetic neuropathy were found to be the independent risk factors for LST.

Hypertension among 1000 patients with type 2 diabetes attending a national diabetes center in Jordan

BACKGROUND AND OBJECTIVES In Jordan, there is a paucity of research on hypertension and its risk factors among patients with type 2 diabetes mellitus. This study was designed to assess the prevalence of hypertension, risk factors, and the level of awareness and control of hypertension among outpatients with type 2 diabetes. SUBJECTS AND METHODS A cross-sectional study was carried out on a sample of 1000 patients with type 2 diabetes who were attending the National Center for Diabetes, Endocrine and Genetic Diseases for follow-up during the period of June to December 2006. Data were collected from medical records and through a structured interview questionnaire. Logistic regression analysis was used to assess the independent effect of variables on hypertension. RESULTS The prevalence of hypertension (BP >130/80 or on medication for high blood pressure) was 72.4% (70.9% of males and 73.9% of females). The logistic regression indicated that hypertension was positively associated with age (P=.001), body mass index (P=.001), and duration of diabetes (P=.001). About one-half of patients who were aware of having hypertension failed to keep their blood pressure under control. CONCLUSION Hypertension is a common co-morbidity among diabetic patients. Despite a high rate of awareness of hypertension among study subjects (93%), hypertension was not controlled to the recommended levels of blood pressure in about one-half (50.4%) of patients.