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.     

Atrial conduction time and atrial mechanical function in patients with impaired fasting glucose

Background

Prolonging atrial conduction time, as measured by tissue Doppler imaging (TDI), is an independent predictor of new onset or recurrent atrial fibrillation (AF). We investigated atrial conduction time and cardiac mechanical function in patients with impaired fasting glucose (IFG) using echocardiography.

Methods

Thirty patients with IFG (19 males and 11 females; age, 46.9?±?9.5?years) and 30 control subjects (18 males and 12 females; age, 46.7?±?8.2?years) were included. Atrial conduction time was determined from the lateral mitral annulus (PA lateral), septal mitral annulus (PA septal), and lateral tricuspid annulus (PA tricuspid) by TDI. Inter- and intra-atrial electromechanical delays (EMDs) were calculated. Left atrial (LA) volumes were determined according to the biplane area?Clength method. LA mechanical function parameters were calculated.

Results

LA passive emptying volume and LA passive emptying fraction decreased significantly in patients with IFG as compared with control subjects (p?<?0.001 and p?<?0.001, respectively). PA lateral and PA septal durations were significantly higher in patients with IFG than in the control group. However, no difference in PA tricuspid duration was observed between the two groups. Inter- and intra-atrial EMDs were significantly higher in patients with IFG as compared with the control subjects (median [interquartile range], 34.0 [17.0] vs. 17.0 [4.0], p?<?0.001 and 15.0 [8.5] vs. 7.5 [2.0], p?<?0.001, respectively). Positive correlations were detected between both inter- and intra-atrial EMD and glucose levels (r?=?0.76, p?<?0.001 and r?=?0.68, p?<?0.001, respectively). Additionally, a multiple linear regression analysis revealed that glucose levels were independently associated with inter-atrial EMD (???=?0.753, p?<?0.001).

Conclusion

We showed that IFG was associated with inter- and intra-atrial EMD. Our findings suggest that IFG is an etiological factor for the development of AF.     

Evaluation of the effect of unilateral late blindness on the retina,optic nerve and choroid parameters in the sighted eye

International Ophthalmology - To investigate whether unilateral late blindness alters the peripapillary retinal nerve fiber layer (RNFL), ganglion cell complex (GCC), central macular thickness...     

Digoxin intoxication: An old enemy in modern era

Objectives Although development of new treatment modalities limited digoxin usage, digoxin intoxication is still an important issue which could be easily overlooked. In this report we analyzed a case series definitively diagnosed as digoxin intoxication in the modern era. Methods We analyzed 71 patients hospitalized with digoxin intoxication confirmed by history, complaints, clinical and electrocardiograph (ECG) findings, and serum digoxin levels > 2.0 ng/mL, during a five year period. The demographic and clinical data, indications for digoxin use, digoxin dosage, concurrent medications, laboratory data, hospital monitoring, and ECG findings were obtained from all patients. Results Thirty-eight of 71 patients (53.5%) had symptoms of heart failure during admission or later. Sixty-four percent of patients were older than 75 years. The percentage of females was 67%. Atrial fibrillation, hypertension and gastrointestinal complaints were more frequent in the females (64% in females, 30% in males, P = 0.007; 81% in female, 52% in males, P = 0.01; 50% in female, 17.3% in males, P = 0.008, respectively). The mortality rate during the hospital course was 7%. Conclusion This report demonstrated the reduced mortality rates in patients with digoxin intoxication over the study period. Gastrointestinal complaints are the most common symptoms in this population.     

Fourier analysis of corneal Scheimpflug imaging: clinical use in keratoconus

AIM: To evaluate the clinical use of Fourier analysis of videokeratography data in the diagnosis and follow-up of keratoconus (KC). METHODS: We conducted a chart review of consecutive patients presented to our cornea clinic. A team of two experienced cornea specialists divided the patients into three groups: normal cornea, forme fruste KC (FFKC), and clinical KC. The exclusion criteria were a history of previous ocular surgery, any accompanying corneal pathology other than KC, high myopia (>6.00 diopters), amblyopia, pregnancy, breastfeeding, or any current autoimmune disease. The data of Fourier series harmonic analysis were evaluated for their diagnostic capacity using the receiver operating characteristic (ROC) curve. A binary logistic regression analysis was also conducted to construct a diagnostic model. A total of 259 eyes showed progression in the clinical KC group and underwent a combination of accelerated corneal collagen cross-linking and topography-guided customized treatment with an excimer laser. RESULTS: The study included 1262 eyes (618 normal, 530 KC, and 114 FFKC) of 1262 patients. We observed that maximum decentration (MaxDec) was almost as good as maximum keratometry (Kmax) in detecting progressive KC. The area under the curve (AUC) was 0.95 for KC [95% confidence interval (CI): 0.93-0.96] and 0.84 for FFKC (95%CI: 0.79-0.88). Higher predictive accuracy was obtained using a model combining the spherical component, MaxDec, irregularity, and regular astigmatism in the center of the cornea (AUC: 0.97; sensitivity: 89%, and specificity: 96%). CONCLUSION: Decentration, Kmax, and posterior radii of curvatures from a 3.0-mm optical zone centered on the thinnest point of the cornea provide the highest accuracy with low reproducibility of Kmax.     

Aneurysmal bone cysts of the spine

Purpose

Aneurysmal bone cyst is a benign, relatively uncommon lesion, representing 1.4 % of primary bone tumors. The vertebral column is involved in 3–30 % of cases. This report describes clinical characteristics and treatment results of 18 patients with aneurysmal bone cyst of the spine.

Methods

Between 1991 and 2008, 18 patients with aneurysmal bone cyst of the spine were surgically treated in our department. The clinical records, radiographs, histologic sections, and operative reports were analyzed.

Results

There were 11 male and 7 female patients; mean age was 22.1 years (range 7–46 years). Localizations were cervical (3), cervicothoracic (2), thoracic (3), lumbar (4), and sacrum (6). Tumor was localized on the left side in 11 cases, on the right side in 2 and at midline in 5 patients. The two most common clinical features were axial pain (14 patients) and radicular pain (8 patients). Neurological signs were paraparesis in 3, monoparesis in 6. Mean duration of symptoms was 9 months (range 3 months–3 years). All patients underwent surgery: total removal was performed in 13 patients and subtotal resection in 5. Posterior (11), anterolateral (1), or combined anterior-posterior (6) approaches were used. Mean follow-up duration was 112.3 months (range 4–21 years). We detected four recurrences in subtotal excision group (4/5), and one recurrence in total excision group (1/13).

Conclusion

Treatment options for aneurysmal bone cysts are simple curettage with or without bone grafting, complete excision, embolization, radiation therapy, or a combination of these modalities. Radical surgical excision should be the goal of surgery to decrease the recurrence rate. Recurrence rate is significantly lower in case of total excision.     

The protective effects of grape seed extract on MDA, AOPP, apoptosis and eNOS expression in testicular torsion: an experimental study

Objectives

Grape seed proanthocyanidin extract (GSPE) is a potent antioxidant and a free radical scavenger. This study was designed to determine whether GSPE could protect against dysfunction and oxidative stress induced by torsion–detorsion injury in rat testis.

Methods

A total of 45 male Wistar albino rats were divided into five groups: control group, sham group, torsion–detorsion (T/D) group, T/D + GSPE group, GSPE group. GSPE was administrated 100 mg/kg/day with oral gavage over seven days before torsion. Testicular torsion was performed for 2 h, and afterward, detorsion was performed for 2 h. The rats were decapitated under ketamine anesthesia, and their testes tissues were removed. Tissue malondialdehyde, advanced oxidation protein products levels, eNOS expression, apoptosis and histopathological damage scores were then compared.

Results

Testicular torsion–detorsion caused significant increases in malondialdehyde level, apoptosis and eNOS expression level and caused a significant decrease in advanced oxidation protein product levels and testicular spermatogenesis in ipsilateral testes. GSPE prevented the rise in malondialdehyde, apoptosis and eNOS expression and improved testicular morphology and Johnsen’s score.

Conclusions

As a result, testicular torsion gives rise to serious damage in testes and GSPE is a potent antioxidant agent in preventing testicular injury.     

A conservative treatment of ingrown toenails: splinting technique with cyanoacrylate

Toenail ingrowing is a common and serious disease which affects social life. This article focuses on a noninvasive technique of nail splinting using cyanoacrylate. The cyanoacrylate splinting technique is an effective, noninvasive, easy-to-learn, quick, and inexpensive method with good cosmetic outcomes which aims to minimize the problems of surgical treatments. Level of Evidence: Level V, therapeutic study.