Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.     

Evaluation of choroidal thickness and choroidal vascularity index during pregnancy

ObjectiveTo assess the choroidal structural characteristics in the first and third trimesters in pregnant women using enhanced depth imaging optical coherence tomography and binarization method.DesignProspective study.ParticipantsTwenty-five eyes of 25 pregnant women in the first trimester (group 1) and 25 eyes of 25 pregnant women in the third trimester (group 2) were examined. Healthy age-matched 25 participants were enrolled as a control group (group 3).MethodsThe choroidal thickness (CT) was measured at 3 points; subfoveal, 1500 μm nasal to the fovea, and 1500 μm temporal to the fovea. Total choroidal area, luminal area, stromal area, stroma/lumen ratio, and choroidal vascularity index (CVI) were measured by Image-J software.ResultsThe mean subfoveal and nasal CT were statistically significantly increased in group 1 compared with controls (p = 0.005 and p = 0.004, respectively). The mean temporal CT was statistically significantly increased in group 1 compared with groups 2 and 3 (group 1 vs group 2, p = 0.043; group 1 vs group 3, p = 0.011). The mean total choroidal area, stromal area, and luminal area were significantly increased in groups 1 and 2 compared with control group (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, p = 0.002, p = 0.002, respectively). There were no statistically significant differences among groups in terms of mean stroma/lumen ratio and CVI (p = 0.148 and p = 0.312, respectively).ConclusionsThere was a significant increase in subfoveal, temporal, and nasal CT in the first trimester. Total choroidal, stromal, and luminal areas were significantly increased in the first and third trimesters.     

Lateral internal sphincterotomy versus 0.25 % isosorbide dinitrate ointment for chronic anal fissures: a prospective randomized controlled trial

Purpose

To compare the healing properties of lateral internal sphincterotomy (LIS) and isosorbide dinitrate (ISDN) ointment for chronic anal fissure.

Methods

Patients with a chronic anal fissure were randomly assigned to a group treated with ISDN ointment (n = 105) or a group treated with LIS (n = 102). The same investigators examined the patients in a blinded manner, 1, 2, 3, 6, and 12 months after the treatments.

Results

The anal fissure had healed completely by 4 weeks in 64.7 versus 92.2 %, and by 6 months in 77.1 versus 97.1 % of the ISDN and LIS group patients, respectively. At 12 months, the recurrence rates were 4.8 versus 1 % for the ISDN and LIS groups, respectively, and the success rates of the treatments were 72.4 versus 96.1 %, respectively. Six patients in the LIS group experienced minor fecal incontinence, and seven (6.7 %) patients in the ISDN group experienced headaches that responded well to paracetamol.

Conclusion

ISDN ointment was reported by all patients to be easy to use. Although its success rate was lower than that of surgery, ISDN can be offered to selected patients with a chronic anal fissure, as it has a low recurrence rate and rare side effects are rare.     

Unusual Traumatic Midthoracic Spondyloptosis and Its Surgical Management: Case Report

Posttraumatic spondyloptosis develops as a result of complete subluxation of the vertebral bodies and causes complete transection of the spinal cord. Severe trauma-related spondyloptosis of the upper-mid thoracic region is a rare form of spinal trauma. Traumatic midthoracic spondyloptosis is quite rare, and radiology plays an important role in the diagnosis and treatment of this condition. Surgical reconstruction and stabilization are required for early mobilization and rehabilitation of patients with this injury. Here, we report the clinical features, radiographic findings, and management of an unusual case of traumatic midthoracic spondyloptosis that showed complete spinal cord transection and was operated.     

The Prevalence and the Characteristics of Tuberculosis Patients Undergoing Chronic Dialysis Treatment: Experience of a Dialysis Center in Southeast Turkey

Tuberculosis remains a significant health problem for patients receiving chronic dialysis. The purpose of this study was to evaluate the prevalence, clinical characteristics, and outcomes of tuberculosis among patients with end-stage renal failure (ESRF) undergoing chronic hemodialysis and continuous ambulatory peritoneal dialysis. Between 1999 and 2006, we diagnosed 21 active tuberculosis patients among a total of 674-dialysis patient in our dialysis center (582 patients on hemodialysis and 92 patients on continuous ambulatory peritoneal dialysis program). Fourteen patients developed extrapulmonary tuberculosis (generally tuberculous lymphadenitis, n = 8) and seven patients developed pulmonary tuberculosis. All patients who developed tuberculosis after starting dialysis had low creatinine clearances and, in general, anemia and hypoalbuminemia. Three of patients greater than 40 years died. In conclusion, tuberculous lymphadenitis was the most frequent form of extrapulmonary tuberculosis in our dialysis population. If no cause is found despite extensive investigations in an end stage renal failure case with fever, loss of weight, and/or atypical lymphadenopathy, the physician should consider the possibility of tuberculosis. Finally, it was considered that ESRF is associated with depressed immune system and elevated risk of tuberculosis; thus, in this population, clinicians must evaluate patients carefully.     

A Case of Kaposi's Sarcoma Following Treatment of Membranoproliferative Glomerulonephritis and a Review of the Literature

Kaposi's sarcoma (KS) is an unusual tumor principally affecting the skin of the lower extremities. Although the association between KS and renal transplant has been well documented, there are a few KS cases in the literature associated with membranoproliferative glomerulonephritis or other glomerular diseases. This report presents a patient with membranoproliferative glomerulonephritis (MPGN) who developed KS following treatment with long-term medium dose glucocorticoid and short-term additional immunosuppressives. The KS cases associated with glomerulonephritis are also reviewed. KS is a rare complication in glomerular diseases that may (or may not) be related to immunosuppression. Hence, immunosuppression treatment should be carefully planned in glomerulonephritis treatment and avoided if they are not essentially necessary.