THE CHANGING PROFILE OF CONSANGUINITY RATES IN BAHRAIN, 1990-2009

Consanguineous marriage is traditional and respected in most communities of North Africa, the Middle East and West Asia, including Bahrain, with intra-familial unions accounting for 20-50+% of all marriages. Significant secular changes in consanguinity rates have been reported in recent decades in different populations. Among parents of 14,237 newborns in Bahrain in 2008-2009, the total consanguinity and first cousin marriage rates over a period of four months in 2008 were 10.9% and 6.9% respectively, while during all of 2009 the rates were 11.4% and 6.8% respectively. The study confirms that over a ten-year period first cousin marriage rates in Bahrain have declined from 24% to nearly 7%. Although advice against cousin marriages was not attempted at any stage in the comprehensive community genetics programmes in Bahrain, increasing the literacy of the public and of the health care providers on prevention strategies for genetic diseases could have contributed to this decline in consanguinity rate in Bahrai

Immunoglobulins assessment (IgE,G,A,M) in some Iraqi patients with acute and chronic urticaria

60 patients diagnosed as having urticaria were included in the study ; 30 patients were effected with acute urticaria and 30 patients were affected with chronic urticaria. In addition, 30 healthy adult volunteers were selected as control group .The patients and control groups sera were examined with enzyme linked immunosorbent assay ( ELISA) to detect total level IgE and radial immunodiffusion (RID) to detect levels of IgG , IgA and IgM . The total level of IgE in acute urticaria ( 1.45±0.13) IU/mL and chronic urticaria (2.12 ± 0.10) IU/mL patients were significantly higher than the control groups ( 0.85 ± 0.10)IU/mL (

استراتيجية تسويق حرب العصابات وانعكاسها على سلوك المستهلك دراسة استطلاعية لآراء عينة من العاملين في متاجر التجزئة في مدينة الموصل

يهدف البحث إلى قياس قدرة استراتيجية تسويق حرب العصابات في تعزيز سلوك المستهلك للمنظمات كي تحقق التواصل والنجاح، وتم اختيار (متاجر التجزئة في مدينة الموصل) كمجتمع للبحث، وتم اختيار (108) من العاملين في تلك المتاجر بطريقيه عشوائية كعينة للبحث، واعتمد الباحث استمارة الاستبانة بعد التأكد من صدقها وثباتها كأداة رئيسية في جمع البيانات وتم تحليل بواسطة الحزمة الاحصائية لتطبيقات العلوم الاجتماعية (SPSS21) من خلال الاستعانة بمجموعة من بالأساليب الإحصائية، وتم تعزيز البحث بمجموعة من الفرضيات التي تم اختبارها من خلال جملة من التحاليل الاحصائية التي عكست واقع تلك الفرضيات بالإيجاب أو النفي للوصول إلى النتيجة التي تدعم الفرضيات الرئيسية للبحث، وقد توصل الباحث إلى عدد من الاستنتاجات منها (حاجة المتاجر إلى مزج الثقافة المحلية في المادة الاعلانية التي يتلقها الزبون)، واتساقا مع مضمون الاستنتاجات، فقد توصل الباحث إلى عدد من المقترحات منها (التأكيد على أهمية قدرة المتاجر على مزج الثقافة المحلية في المادة الاعلانية التي يتلقها الزبون)

Comparative Effects of Telmisartan versus Valsartan on serum Leptin level, in hypertensive type 2 diabetes mellitus patients

Objective: The aim of this study was to compare the effects of telmisartan and valsartan onblood pressure and serum leptin in hypertensive type 2 diabetesMellitus patients. Study design:A randomized control comparative clinical trial with open label design. Study period: From 1st  February, 2012 to 30th March, 2013. Patients and method: Eighty eight type 2 diabetic hypertensive  patients were randomly assigned to received either telmisartan (n = 46)  or valsartan (n = 42) with body mass index (BMI) 31.52±4.73 kg/m², 30.39±3.95 kg/m² respectivly. Forty one diabetic normotensive patients (n=41), age, sex, BMI, duration of diabetic  disease, duration of diabetic treatment matched to the diabetic hypertensive  patients groups were kept as control group. blood pressure (BP), leptin levels were measured at baseline and after 2 months of treatment. Results: The study showed a significant higher systolic blood pressure (SBP), diastolic blood pressure (DBP) and serum leptin in the diabetic hypertensive patients before starting therapy as compared with the diabetic normotensive patients. Both telmisartan and valsartan significantly reduced serum leptin and BP. More reduction in DBP seen with valsartan  than with telmisartan. Conclusion: Monotherapy with telmisartan and valsartan produce a beneficial reduction effects on BP and reduce leptin level. The improvement of leptin sensitivity may play a role directly or indirectly in the induction of hypertension control

A Comparative Study of the Effects of Age and Smoking on Nail Growth Rate in Healthy Individuals

Background: The nail organ has an important functional and aesthetic importance. Nail Growth Rate (NGR) has attracted the attention of many investigators not only due to the importance of the nail apparatus but also as a tool to reflect health. Objective: To study the effects of smoking and age on nail growth. Patients and methods:The study was conducted at the Department of Physiology and the Department of Dermatology, College of Medicine, University of Baghdad during the period from January 2011 to May 2011. Nail growth measurement was performed by etching a T – mark on the nail plate of the right and the left thumbs with a wide bore needle. The vertical distance between the point of meeting of the T and the proximal nail fold was measured using (vernier). A second measurement was performed one month later. The difference between the 2 readings was divided by the number of days between the readings to give the NGR. Results:The NGR was measured in a total of 106 subjects. The subjects were divided into 3 groups: Group1 (Smoker male subjects): 23 subjects were included in this group. Their ages ranged between 20 and 59 years with a mean of 35.87 +11.72 years. Group 2 (Non-smoker male subjects): 34 subjects were included. Their ages ranged between 13 and 52 years with a mean of 31.76 + 10.16 years.Group 3 (Non-smoker female subjects): 49 subjects were included. Their ages ranged between 8 and 58 years with a mean of 27.49 +11.66 years. NGR measurement in: Group 1:The mean growth rate in the right thumb was 95.4 + 28.8 microns/day, and for the left thumb was 96 + 34 microns/day. Group 2:The NGR was 105.6 + 34.35, and 103.4 + 34.24 microns /day, for the right thumb and the left thumb respectively. . Group 3: The NGR was 100 .5 + 33.52 microns/day for the right thumb and 101.6 + 31.77 microns /day for the left thumb. Conclusion: Age was inversely correlated with nail growth in right and left thumbs in all groups. The duration of smoking and number of cigarettes was inversely related to nail growth, but it did not reach statistical significance

Chronic ulcerative Cutaneous Vasculitis of the legs Clinical and histopathological study

Background: Cutaneous small vessel vasculitis characterized by necrosis and inflammation of upper dermal blood vessels. It presents with ulcers and systemic manifestations after extensive acute onset. Many patients have a form of cutaneous vasculitis that presents with chronic painful ulcerations & purpuras involving the ankles without systemic manifestations, with some similarity in clinical presentation to livedoid vasculopathy. Patients and Methods: Thirteen patients were seen in the Department of Dermatology and Venereology, Baghdad Teaching Hospital, for a period extending from January 2004 to March 2005. They were evaluated clinically, histopathologically and other laboratory studies. In addition, evaluation of the clinical response to prednisolone 0.5mg/kg/day and azathioprine150mg/day was done. Results: Thirteen patients were included in this study; eight females and five males, with male to female ratio of 1:1.6. Their ages ranged between 26-66 years with a mean ±SD of 42 ± 13.8 years. The duration of the disease ranged from 0.5 – 18 years with a mean ±SD of 38 ± 59.2 months.The clinical examination revealed multiple oval punched out ulcers, with an indurated base, and surrounded by a zone of erythema; affecting mainly the ankles and dorsa of feet. Histopathological evaluation showed upper dermal vessels' wall necrosis, fibrinoid deposition, obliteration of the lumen, extravasation of red blood cells, endothelial cells swelling with perivascular and vascular wall infiltration mainly by mononuclear cells.The treatment was started with prednisolone & azathioprine. The ulcers healed completely with residual hyperpigmentation - hypopigmentation, atrophy and scars within 10-15 weeks  Conclusions: Chronic ulcerative cutaneous vasculitis is often a neglected and misdiagnosed variant of vasulitis. Histologically it has vascuiltic features, and clinically looks like livedoid vasculopathy

Consanguinity and reproductive health among Arabs

Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Background: Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. Methods: A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C®T), Chatham (1003 G®A), A- (202 G®A) and Aures (143 T®C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C®T) silent mutation. Results: G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Conclusions: Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to othe

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome (WES) and whole genome sequencing (WGS) in four independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter, and thinning of the corpus callosum, we identified four previously unreported homozygous truncating PPP1R21 alleles: c.347delT p.(Ile116Lysfs*25), c.2170_2171insGGTA p.(Ile724Argfs*8), c.1607dupT p.(Leu536Phefs*7), c.2063delA p.(Lys688Serfs*26) and found that PPP1R21 was absent in fibroblasts of an affected individual, supporting the allele's loss of function effect. PPP1R21 function had not been studied except that a large scale affinity proteomics approach suggested an interaction with PIBF1 defective in Joubert syndrome. Our co‐immunoprecipitation studies did not confirm this but in contrast defined the localization of PPP1R21 to the early endosome. Consistent with the subcellular expression pattern and the clinical phenotype exhibiting features of storage diseases, we found patient fibroblasts exhibited a delay in clearance of transferrin‐488 while uptake was normal. In summary, we delineate a novel neurodevelopmental syndrome caused by biallelic PPP1R21 loss of function variants, and suggest a role of PPP1R21 within the endosomal sorting process or endosome maturation pathway