Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

CONTEXT: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare. OBJECTIVE: The purpose of this article was determine the phenotypic presentation of 12 patients with a variety of GLIS3 mutations. METHODS: GLIS3 gene mutations were sought by PCR amplification and sequence analysis of exons 1 to 11. Clinical information was provided by the referring clinicians and subsequently using a questionnaire circulated to gain further information. RESULTS: We report the first case of a patient with a compound heterozygous mutation in GLIS3 who did not present with congenital hypothyroidism. All patients presented with neonatal diabetes with a range of insulin sensitivities. Thyroid disease varied among patients. Hepatic and renal disease was common with liver dysfunction ranging from hepatitis to cirrhosis; cystic dysplasia was the most common renal manifestation. We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency. CONCLUSION: We report new findings within the GLIS3 phenotype, further extending the spectrum of abnormalities associated with GLIS3 mutations and providing novel insights into the role of GLIS3 in human physiological development. All but 2 of the patients within our cohort are still alive, and we describe the first patient to live to adulthood with a GLIS3 mutation, suggesting that even patients with a severe GLIS3 phenotype may have a longer life expectancy than originally described.

The Investigation of Plasma Glucagon-like Peptide-1 Levels in Newly Diagnosed Type 1 Diabetic Children.

OBJECTIVE: To reveal the possible role of glucagon-like peptide-1 (GLP-1) in newly diagnosed Type 1 diabetic children. METHODS: Twenty-five newly diagnosed children and 22 healthy children were included in the study. RESULTS: In oral glucose tolerance tests, no correlation was observed between C-peptide and GLP-1 levels at 0 and 30 minutes, and plasma GLP-1 levels in both groups at 0 and 30 minutes were not statistically different. CONCLUSION: Consequently, fasting and postprandial GLP-1 levels in newly diagnosed Type 1 diabetic children are not different from healthy children. Glucagon-like peptide-1 levels in newly diagnosed Type 1 diabetic children suggest that plasma GLP-1 levels do not have any role in the pathogenesis of Type 1 diabetes mellitus.

Power and trust in organizational relations: an empirical study in Turkish public hospitals.

Given the salience of the interplay between trust and power relations in organizational settings, this paper examines the perceptions of social power and its effects on trust in supervisors within the context of public hospitals. Following the theoretical background from which the study model is developed, the recent situation of hospitals within Turkish healthcare system is discussed to further elucidate the working conditions of physicians. Sample data were collected employing a structured questionnaire that was distributed to physicians working at seven different public hospitals. The statistical analyses indicate that perceptions of supervisors' social power affect subordinates' trust in supervisors. Although coercive power is found to have the greatest impact on trust in supervisors, the influence of the power base is weak. In addition, the results show that perceptions of social power differ between genders. However, the results do not support any of the hypotheses regarding the relations between trust in supervisors and the examined demographic variables.

Epstein-barr virus encephalitis in infancy.

Epstein-Barr virus (EBV) infection causes a wide spectrum of illness in humans including subclinical infection, infectious mononucleosis, and is associated with some malignancies. This report presents the clinical findings of an unusual case of EBV encephalitis in a 10-month old infant who presented with a febrile infection and seizures. The clinical manifestations, serologic study and a dynamic change of EBV DNA in cerebrospinal fluid with spontaneous recovery confirmed the diagnosis of EBV infection of the nervous system.

Micrometric measurements by scanning electron microscope (SEM) for dental age estimation in adults.

Determining age from dental structure is a well documented forensic procedure and the data may be used as auxiliary information in identification. In this study 20 measurements of different variables in incisor teeth were obtained using a SEM micrometric scaler and the results were stastically correlated with age by the multiple regression method. A formula was then derived from the calculations for age estimation which gave statistically acceptable results. Gender differences were also investigated and when separated delivered even stronger correlation.

CT measurement of the normal brain ventricular system in 100 adults.

Examination of 100 voluntary cases with no physical or neurological deficit revealed that the sizes of the cerebral ventricles increase with age in both sexes. According to regression analysis in women, increase in the size of the third ventricle by age was statistically significant. Compared to women, the size of the third ventricle was larger in men. In the measurements of the lateral ventricles, it was observed that bifrontal the cerebroventricular index in men and the bicaudal cerebroventricular index in women increase significantly with age. The indices showed no significant difference between the two sexes.

Atrial natriuretic peptide concentrations in children with pulmonary hypertension: correlation with hemodynamic measurements.

To define the relation between atrial natriuretic peptide (ANP) and hemodynamic parameters in children with pulmonary artery hypertension, we measured the ANP concentrations of the femoral vein, right atrium, pulmonary artery, left atrium and left ventricle, or femoral artery in 32 patients during right or left heart catheterization. There is a strong correlation among the ANP levels obtained from different locations (p < 0.001), and these ANP levels are positively correlated with pulmonary arterial pressures and pulmonary resistance. Patients were divided into two groups according to their pulmonary arterial pressure. The group with pulmonary arterial systolic pressure higher than 31 mmHg had higher ANP levels than the group with pulmonary arterial systolic pressure lower than 31 mmHg. When patients were grouped according to their pulmonary resistance, ANP levels in the group with pulmonary resistance over 2 U/m2 were higher than those in the group with pulmonary resistance lower than 2 U/m2. In this study ANP levels showed a correlation with the right ventricular systolic pressure. A correlation was not seen between ANP levels and the flow ratios or the presence of shunt. The results of our study suggest that ANP should be considered an important factor in pulmonary hypertension, independent of other factors.