Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity. To date, only 9 families have been reported in the literature to have mutations in the leptin receptor gene. The clinical features include severe early onset obesity, severe hyperphagia, hypogonadotropic hypogonadism, and T cell and neuroendocrine/metabolic dysfunction. Here we report two cousins with severe early onset obesity and recurrent respiratory tract infections. Their serum leptin levels were elevated but they were within the range predicted by the elevated fat mass in both cousins. Direct sequencing of the entire coding sequence of the leptin receptor gene revealed a novel homozygous missense mutation in exon 6, P316T. The mutation was found in the homozygous form in both cousins and in the heterozygote state in their parents. This mutation was not found in 200 chromosomes from 100 unrelated normal weight control subjects of Egyptian origin using PCR-RFLP analysis. In conclusion, finding this new mutation in the LEPR beside our previous mutation in the LEP gene implies that monogenic obesity syndromes may be common in the Egyptian population owing to the high rates of consanguineous marriages. Further screening of more families for mutations in LEP, LEPR, and MC4 might confirm this assumption.     

Screening for the metabolic syndrome using simple anthropometric measurements in south Asian and white Europeans: A population-based screening study. The Leicester Ethnic Atherosclerosis and Diabetes Risk (LEADER) Study

AimsTo estimate the prevalence of metabolic syndrome in a general population sample of south Asians and white Europeans and compare predictors of metabolic syndrome, using ethnic specific definitions of obesity.Methods3099 participants (71.4% white European, 28.6% south Asian) aged 40–75 years were screened using a 75 g oral glucose tolerance test. Metabolic syndrome was defined using National Cholesterol Education Programme and International Diabetes Federation definitions. We compared sensitivity, specificity and area under the curve of waist circumference, body mass index and waist–hip ratio.ResultsThe prevalence of metabolic syndrome using the definitions above was 29.9% (29.2% south Asian, 30.2% white European), and 34.4% (34.2% south Asian, 34.5% white European), respectively. Using the National Cholesterol Education Programme definition, waist circumference was significantly more predictive of metabolic syndrome than body mass index or waist–hip ratio. The area under the curve for waist circumference was 0.75 (95% CI: 0.69–0.80) and 0.76 (0.72–0.81) for south Asian men and women; 0.83 (0.80–0.85) and 0.80 (0.77–0.82) for white European men and women.ConclusionsThe prevalence of metabolic syndrome is high in both south Asian and white European populations. Waist circumference is a simple and effective measure for predicting metabolic syndrome in different populations.     

Patients’ perception toward various dental treatments provided in the internship program

Objectives:

To evaluate patients’ perception regarding treatment and environment in the interns’ clinic at a university dentistry clinic.

Methods:

This cross-sectional study was conducted between July 2012 to May 2013 at the College of Dentistry, University of Dammam, Dammam, Kingdom of Saudi Arabia. A self-directed questionnaire was distributed to 220 randomly selected patients, and the response rate was approximately 68%. Patients’ were asked regarding dentists’ behavior, treatment, and clinical environment along with their demographics, and socioeconomic status.

Results:

Out of the 220 randomly selected patients, 150 participated in the study. The average age of a respondent was 32.5 years (±14.5), 89 of the 150 participants were Saudi nationals. Collectively, 86% were satisfied with the doctors’ behavior, and approximately 94% responded that the dentist listens to their concerns. Most (83%) were satisfied with the treatment plan provided by the interns.

Conclusion:

The findings in this study showed that more than 80% of the participants were satisfied with the quality of treatment and clinical environment. The dissatisfaction rate was minimal (13%) and for this reason, it is difficult to establish the factors for patients dissatisfaction.Evaluation of patients’ satisfaction and meeting their expectations helps to quantify quality of services provided to them. Identifying patient expectations by obtaining their feedback helps to improve the quality of services provided in the clinics. In an academic institution, it is crucial to evaluate quality of care provided to patients. An increase in the number of satisfied patients increases patient cooperation, and motivation.1 Patients’ attitude toward health care experience develops over time, and can be influenced by numerous factors.2 Overall satisfaction is also influenced by the age of a patient, and when satisfaction was related to communication, young male participants produced a higher satisfaction score than other respondents.3,4 Furthermore, a direct relation was found between education level and patients’ satisfaction, and low income group consistently produced low satisfaction scores.5,6 However, features such as neatness, comfort of seating, magazine selection, and background music of the clinic facilities have been reported to influence patient perceptions.7 The College of Dentistry in the University of Dammam facilitates its students by providing them a one year internship program. After finishing course work, students must serve one year in the clinics under the supervision of a faculty member to enhance their skills. The aim of this study was to evaluate patients who visited the interns’ clinics regarding treatment they received, and their satisfaction with the treatment, and clinical environment.     

Effects of formulation variables and post-compression curing on drug release from a new sustained-release matrix material: polyvinylacetate-povidone.

A new commercially available sustained-release matrix material, Kollidon SR, composed of polyvinylacetate and povidone, was evaluated with respect to its ability to modulate the in vitro release of a highly water-soluble model compound, diphenhydramine HCl. Kollidon SR was found to provide a sustained-release effect for the model compound, with certain formulation and processing variables playing an important role in controlling its release kinetics. Formulation variables affecting the release include the level of the polymeric material in the matrix, excipient level, as well as the nature of the excipients (water soluble vs. water insoluble). Increasing the ratio of a water-insoluble excipient, Emcompress, to Kollidon SR enhanced drug release. The incorporation of a water-soluble excipient, lactose, accelerated its release rate in a more pronounced manner. Stability studies conducted at 40 degrees C/75% RH revealed a slow-down in dissolution rate for the drug-Kollidon SR formulation, as a result of polyvinylacetate relaxation. Further studies demonstrated that a post-compression curing step effectively stabilized the release pattern of formulations containing > or = 47% Kollidon SR. The release mechanism of Kollidon-drug and drug-Kollidon-Emcompress formulations appears to be diffusion controlled, while that of the drug-Kollidon-lactose formulation appears to be controlled predominantly by diffusion along with erosion.     

Facteurs associés aux perdus de vue des patients sous traitement antirétroviral dans un centre de traitement ambulatoire du VIH à Conakry,Guinée

Background

Late or inadequate therapeutic management increases the risk of mortality associated with HIV/AIDS. The aim of this study was to analyze the proportion and factors associated with loss of follow-up in HIV patients who receiving antiretroviral therapy at Conakry.

44Sacral extracorporeal magnetic stimulation is an effective treatment for pelvic floor dyssynergia; Comparative study with biofeedback therapy

Background: Recent development of extracorporeal magnetic stimulation (ECMS) which uses current‐changing magnetic fields allows the induction of electrical stimulation in the desired deep tissue. Recent study showed the sacral nerve stimulation reduces corticoanal excitability that may play a functional role in anal continence mechanisms. Preliminary study shows that ECMS of sacral nerve can modify pelvic floor function and expel rectal balloon in patients with pelvic floor dyssynergia (PFD). Aims: To evaluate the effect of ECMS compared with biofeedback therapy (BF) in patients with PFD. Methods and Materials: Thirty‐eight patients who fulfilled Rome II criteria for PFD by colon transit time and anorectal function tests, were randomly treated with 8 sessions of ECMS (2/weeks; n = 19) at prone position or BF (2/weeks; n = 19) at sitting position. Stimulation parameters were set at 50–80% of maximum intensity, 10 and 50 Hz frequency, 3 s burst length with 3 and 6 s off using arm‐typed stimulator (BioCom‐1000, Mcube Co., Korea). Symptom scores for constipation with/without anorectal function test were repeatedly measured after each treatment. Response was defined as 50% or more decreased symptom score after treatment (partial response: 30–50%, poor: <30%). Results: Fifteen patients (age 49.1 ± 13.4 years, mean ± SD; 4 men) completed 8 session of BF and 14 patients (54.5 ± 17.6 years, 3 men) completed 8 session of ECMS. Four patients of BF group discontinued treatment due to unsatisfactory therapeutic effect (n = 1) and withdrew consent (n = 3) and 5 patients of ECMS group discontinued treatment because of same reasons (n = 1, 4). Total symptom scores were significantly decreased after treatment of 8 session in both treatment groups (13.4 ± 6.6 vs. 4.3 ± 4.0 for BF, p = 0.009; 14.9 ± 5.6 vs. 3.4 ± 4.0 for ECMS, p < 0.001). Bowel movements per week were also significantly increased after treatment in both groups (median 2 vs. 7 for BF, p = 0.035; median 2 vs. 7 for ECMS, p = 0.008). Thirteen out of 15 patients showed response in BF group and 12 out of 14 showed good response in ECMS group. No adverse effects in both groups. Conclusions: ECMS is as effective as BF for the treatment of PFD. Long‐term effect of ECMS for the patients with pelvic floor dyssynergia need to be evaluated in the near future.