1,570 research outputs found
Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population
Background: The burden of diabetes in Lebanon requires well-targeted interventions for screening type 2 diabetes mellitus (T2DM) and prediabetes and prevention of risk factors. Newly recruited 998 Lebanese individuals, in addition to 7,292 already available, were studied to investigate the prevalence of diabetes, prediabetes and their associated risk factors. Methods: Participants had fasting blood sugar and glycohemoglobin tests in addition to a lipid profile. Clinical and demographic information were obtained from a detailed questionnaire. The relationship between T2DM, its risk factors, and its complications were tested. Comparisons of these risk factors among diabetics, healthy, and coronary artery disease (CAD) patients were performed. Results: The prevalence of T2DM significantly increased with increasing BMI (p < 0.0001). Exercise activity level negatively correlated with the disease (p = 0.002), whereas the prevalence of T2DM (p < 0.0001) and CAD family history (p = 0.006) positively correlated with the affection status. The mean levels of triglycerides and LDL-C were significantly higher in diabetics (1.87; 1.35) compared to individuals with prediabetes (1.63; 1.26) and unaffected controls (1.49; 1.19). People with T2DM showed a significant decrease in HDL-C levels. A strong correlation of overall hyperlipidemia with the diabetes affection status was shown (p < 0.0001). Other comorbid factors such as hypertension (p < 0.0001) and self-reported obesity (p < 0.0001) were highly associated with T2DM and prediabetes. Reproductive health of women showed a strong correlation between giving birth to a baby with a high weight and the occurrence of T2DM and prediabetes later in life (p < 0.0001). Retinopathy and peripheral neuropathy were significantly correlated with diabetes and prediabetes (p < 0.0001). Conclusions: The present study shows an alarming prevalence of diabetes and prediabetes in the studied subgroups representative of the Lebanese population. Electronic supplementary material The online version of this article (doi:10.1186/1758-5996-6-89) contains supplementary material, which is available to authorized users
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1
Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis
in the collecting duct system of the kidney require an overlapping set of membrane transport proteins
regulated by the forkhead transcription factor FOXI1. In two unrelated consanguineous families, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predicted to affect the highly conserved DNA binding domain. Patients presented with early-onset sensorineural
deafness and distal renal tubular acidosis. In cultured cells, the mutations reduced the DNA binding affinity
of FOXI1, which hence, failed to adequately activate genes crucial for normal inner ear function and acidbase regulation in the kidney. A substantial proportion of patients with a clinical diagnosis of inherited
distal renal tubular acidosis has no identified causative mutations in currently known disease genes. Our
data suggest that recessive mutations in FOXI1 can explain the disease in a subset of these patients
Biochemical parameters among type 2 diabetic patients complaining of erectile dysfunction
Patients with type 2 diabetes mellitus (DM) have more disturbances of sexual and reproductive functions. The consequences of type 2 DM may include dyslipidemia, insulin resistance (IR), cardiovascular disease (CVD) and low testosterone level. The main objective of this study is to determine the value of various biochemical parameters in relation to erectile dysfunction (ED) in type 2 DM patients in Gaza city, Palestine. A total of 160 males between the age of 35–60 years were recruited; 80 type 2 DM patients and 80 as controls. Anthropometric, demographic, sexual and clinical data were obtained by questionnaire. Increased prevalence of high BMI and HOMA-IR were observed among type 2 DM patients, while high incidence of low testosterone was found in the same group (p< 0.05). Testosterone was correlated negatively and significantly with BMI and duration of type 2 DM (p< 0.05). ED was correlated significantly and directionally with dyslipidemia, duration of type 2 DM, and complications of diabetes mainly retinopathy (p< 0.05). While, nocturnal/early morning erection (NEME) was correlated significantly but inversely with duration of type 2 DM (p< 0.05). In addition, fasting blood glucose (FBG), duration of type 2 DM and low level of testosterone were predictor factors associated with ED (p< 0.05), while increased BMI was a predictor factor associated with low testosterone level (p< 0.05). In the present study, high incidence of low testosterone and increased prevalence of ED among type 2 DM patients could be attributed to uncontrolled type 2 DM, obesity, IR, dyslipidemia, long duration of type 2 DM and its complications
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Functional studies showed that recessive mutations resulted in diabetes because of decreased insulin biosynthesis through distinct mechanisms, including gene deletion, lack of the translation initiation signal, and altered mRNA stability because of the disruption of a polyadenylation signal. A subset of recessive mutations caused abnormal INS transcription, including the deletion of the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in a CC dinucleotide sequence located between E1 and A1 elements. In keeping with an earlier and more severe beta-cell defect, patients with recessive INS mutations had a lower birth weight (-3.2 SD score vs. -2.0 SD score) and were diagnosed earlier (median 1 week vs. 10 weeks) compared to those with dominant INS mutations. Mutations in the insulin gene can therefore result in neonatal diabetes as a result of two contrasting pathogenic mechanisms. Moreover, the recessively inherited mutations provide a genetic demonstration of the essential role of multiple sequence elements that regulate the biosynthesis of insulin in man
The International Deep Brain Stimulation Registry and Database for Gilles de la Tourette Syndrome: How Does It Work?
Tourette Syndrome (TS) is a neuropsychiatric disease characterized by a combination of motor and vocal tics. Deep brain stimulation (DBS), already widely utilized for Parkinson's disease and other movement disorders, is an emerging therapy for select and severe cases of TS that are resistant to medication and behavioral therapy. Over the last two decades, DBS has been used experimentally to manage severe TS cases. The results of case reports and small case series have been variable but in general positive. The reported interventions have, however, been variable, and there remain non-standardized selection criteria, various brain targets, differences in hardware, as well as variability in the programming parameters utilized. DBS centers perform only a handful of TS DBS cases each year, making large-scale outcomes difficult to study and to interpret. These limitations, coupled with the variable effect of surgery, and the overall small numbers of TS patients with DBS worldwide, have delayed regulatory agency approval (e.g., FDA and equivalent agencies around the world). The Tourette Association of America, in response to the worldwide need for a more organized and collaborative effort, launched an international TS DBS registry and database. The main goal of the project has been to share data, uncover best practices, improve outcomes, and to provide critical information to regulatory agencies. The international registry and database has improved the communication and collaboration among TS DBS centers worldwide. In this paper we will review some of the key operation details for the international TS DBS database and registry
Estimating the prevalence of obstetric fistula: a systematic review and meta-analysis.
BACKGROUND: Obstetric fistula is a severe condition which has devastating consequences for a woman's life. The estimation of the burden of fistula at the population level has been impaired by the rarity of diagnosis and the lack of rigorous studies. This study was conducted to determine the prevalence and incidence of fistula in low and middle income countries. METHODS: Six databases were searched, involving two separate searches: one on fistula specifically and one on broader maternal and reproductive morbidities. Studies including estimates of incidence and prevalence of fistula at the population level were included. We conducted meta-analyses of prevalence of fistula among women of reproductive age and the incidence of fistula among recently pregnant women. RESULTS: Nineteen studies were included in this review. The pooled prevalence in population-based studies was 0.29 (95% CI 0.00, 1.07) fistula per 1000 women of reproductive age in all regions. Separated by region we found 1.57 (95% CI 1.16, 2.06) in sub Saharan Africa and South Asia, 1.60 (95% CI 1.16, 2.10) per 1000 women of reproductive age in sub Saharan Africa and 1.20 (95% CI 0.10, 3.54) per 1000 in South Asia. The pooled incidence was 0.09 (95% CI 0.01, 0.25) per 1000 recently pregnant women. CONCLUSIONS: Our study is the most comprehensive study of the burden of fistula to date. Our findings suggest that the prevalence of fistula is lower than previously reported. The low burden of fistula should not detract from their public health importance, however, given the preventability of the condition, and the devastating consequences of fistula
The Effect of Oral Allografts of Cancellous Bone and Marrow in Mice
The purpose of this study was: to develop a model for testing oral bone transplantation; to study the healing of a surgically produced defect with and without the transplantation of strongly allogeneic cancellous bones and marrow; and to determine the fate of the allogenic grafts. Twenty-eight CBA/H mice served as experimental animals. Intra-oral defects were made and in 14 of the animals strongly allogenic cancellous bone and marrow were transplanted. The 14 remaining animals served as controls. It was observed that the healing was delayed in the experimental animals as compared to the controls and that the grafted material was rejected in from two to three weeks
Marriage “sharia style”: everyday practices of Islamic morality in England
The growing visibility of Islam in the public spaces of Western societies is often interpreted in the media as a sign of Muslim radicalisation. This article questions this postulate by examining the flourishing Muslim marriage industry in the UK. It argues that these ‘halal’ services, increasingly popular among the young generation of British Muslims, reflect the semantic shifting of categories away from the repertoire of Islamic jurisprudence to cultural and identity labels visible in public space. Informed by long-term ethnographic fieldwork in the British field of Islamic law, this article examines a Muslim speed-dating event, which took place in central London in 2013. It investigates how Islamic morality is maintained and negotiated in everyday social interactions rather than cultivated via discipline and the pursuit of virtuous dispositions. Using Goffman’s “frame analysis” and his interpretation of the social as a space of “performances” as well as recent anthropological reflections on “ordinary ethics” (Lambek) and “everyday Islam” (Schielke, Osella and Soares), it examines the potential for such practices to define the contours of a new public culture where difference is celebrated as a form of distinction
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