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Introduction: Idiopathic hypogonadotropic hypogonadism (IHH) is caused by dysfunction of the hypothalamic-pituitary-gonadal axis. DLG2 was recently implicated as a gene associated with delayed puberty and which may also contribute to IHH. The confirmation of the candidate puberty genes in independent IHH cohorts has become crucial due to the lack of proper genotype-phenotype segregations in reported pedigrees. Therefore, we aimed to screen DLG2 in patient variants in a large cohort of IHH patients. Methods: The present study included a total of 336 IHH patients from 290 independent families. The coding and flanking regions of DLG2 were screened for potentially important variants in the WES data. Candidate variants were evaluated in the -gnomAD and GME databases according to their allele frequencies, and only those with a frequency Results: We found 1 homozygous and 2 heterozygous missense variants in 3 independent pedigrees. Identified variants were found extremely rare or not reported in gnomAD. Two variants were categorized as "uncertain significance," and the other one was "likely pathogenic" according to the ACMG criteria. All patients were normosmic, and in 2 of the 3 families, there were no causal variants in other IHH-related genes. Conclusion: We detected 3 rare sequencing variants in DLG2 in 5 patients with IHH or delayed puberty in a large IHH cohort. Our results support the contention that the DLG2 mutations are associated with IHH in human puberty.

WOS: 000485922403084 …

In this study, 10-molybdo-2-vanadophosphoric (decamolydodivanadophosphoric) acid called POM having catalytic property, was initially synthesized and Fourier transform infrared (FT-IR), scanning electron microscopy (SEM), energy dispersive X-ray spectroscopy (EDS) and X-ray diffraction (XRD) analyses were carried out. Afterwards, POM was modified to the commercial Polyvinylidene Fluoride (PVDF) membrane surface to produce a new catalytic membrane contactor (CMC). FT-IR, SEM, and EDS characterization of the CMC were performed to clarify that the POM was modified to the membrane. Then, contact angle, pure water fluxes and pore size of the CMC and unmodified PVDF membranes were analysed and compared. Consequently, according to FT-IR and EDS analyses, the CMC was produced successfully and according to contact angle results, this membrane has more hydrophilic than PVDF membrane. Moreover, when the pure water flux values were compared, the CMC fluxes were less than that of PVDF membrane., Bu çalışmada ilk olarak katalizör özelliğiolan POM olarak adlandırılan 10-molibdo-2-vanadofosforik (decamolybdodivanadophosphoric)asit sentezlenmiştir. Fourier dönüşümlü kızılötesi spektroskopisi (FT-IR),taramalı elektron mikroskobu (SEM), enerji dağılım spektroskopisi (EDS) ve X-ışınımıkırınımı (XRD) kullanılarak üretilen malzemenin analizlerigerçekleştirilmiştir. Devamında yeni bir katalitik membran kontaktör (CMC)oluşturmak için ticari polivinildin florid (PVDF) yüzeyine, üretilen POMmodifiye edilmiştir. POM’un membran yüzeyine modifiye edildiğini göstermek içinbu katalitik membranın FT-IR, SEM ve EDS karakterizasyonu yapılmıştır. Dahasonra CMC ve modifiye edilmemiş PVDF membranların, temas açısı, saf su akılarıve membran gözenek (por) analizleri yapılarak karşılaştırılmıştır. Sonuçlarirdelendiğinde FT-IR ve EDS analizlerine göre, CMC membran başarılı bir şekildeüretilmiştir ve temas açısı sonuçlarına göre CMC membran, PVDF membrana göredaha hidrofilik olduğu bulunmuştur. Ayrıca, her iki membranın saf su akıdeğerleri karşılaştırıldığında, CMC membranın saf su akısı PVDF membrana göreazaldığı bulunmuştur.

msufbd In this study, 10-molybdo-2-vanadophosphoric (decamolydodivanadophosphoric) acid called POM having catalytic property, was initially synthesized and Fourier transform infrared (FT-IR), scanning electron microscopy (SEM), energy dispersive X-ray spectroscopy (EDS) and X-ray diffraction (XRD) analyses were carried out. Afterwards, POM was modified to the commercial Polyvinylidene Fluoride (PVDF) membrane surface to produce a new catalytic membrane contactor (CMC). FT-IR, SEM, and EDS characterization of the CMC were performed to clarify that the POM was modified to the membrane. Then, contact angle, pure water fluxes and pore size of the CMC and unmodified PVDF membranes were analysed and compared. Consequently, according to FT-IR and EDS analyses, the CMC was produced successfully and according to contact angle results, this membrane has more hydrophilic than PVDF membrane. Moreover, when the pure water flux values were compared, the CMC fluxes were less than that of PVDF membrane. Bu çalışmada ilk olarak katalizör özelliğiolan POM olarak adlandırılan 10-molibdo-2-vanadofosforik (decamolybdodivanadophosphoric)asit sentezlenmiştir. Fourier dönüşümlü kızılötesi spektroskopisi (FT-IR), taramalı elektron mikroskobu (SEM), enerji dağılım spektroskopisi (EDS) ve X-ışınımıkırınımı (XRD) kullanılarak üretilen malzemenin analizlerigerçekleştirilmiştir. Devamında yeni bir katalitik membran kontaktör (CMC)oluşturmak için ticari polivinildin florid (PVDF) yüzeyine, üretilen POMmodifiye edilmiştir. POM’un membran yüzeyine modifiye edildiğini göstermek içinbu katalitik membranın FT-IR, SEM ve EDS karakterizasyonu yapılmıştır. Dahasonra CMC ve modifiye edilmemiş PVDF membranların, temas açısı, saf su akılarıve membran gözenek (por) analizleri yapılarak karşılaştırılmıştır. Sonuçlarirdelendiğinde FT-IR ve EDS analizlerine göre, CMC membran başarılı bir şekildeüretilmiştir ve temas açısı sonuçlarına göre CMC membran, PVDF membrana göredaha hidrofilik olduğu bulunmuştur. Ayrıca, her iki membranın saf su akıdeğerleri karşılaştırıldığında, CMC membranın saf su akısı PVDF membrana göreazaldığı bulunmuştur. 459266

Purpose: The main objective of this study was to compare the treatments of calcitonin and pamidronate by clinical, biochemical, and radiological findings in children with osteogenesis imperfecta and evaluate the efficiency of pamidronate treatment. Patients and methods: A total of 12 patients, aged 41±38 (1-120) months were studied. Group 1 was consisted of six patients who had received intranasal calcitonin at a dosage of 4-6 U/kg three times a week before switching to pamidronate treatment. Group 2 was also consisted of six patients who had received only pamidronate infusion at a dosage of 0.5-2 mg/kg every two months. Results: Annual fracture rates decreased from 2.72 ± 0.80 to 0.40 ± 0.70 (p, Amaç: Bu çalışmanın temel amacı osteogenezis imperfekta olan çocuklarda klinik, biyokimyasal ve radyolojik bulgular ile pamidronat ve kalsitonin tedavisinin karşılaştırılması ve pamidronat tedavisinin etkinliğinin değerlendirilmesidir. Materyal ve Metod: Yaşları 41±38 (1-120) ay arasında değişen toplam 12 hasta çalışmaya alındı. Grup 1 pamidronat tedavisine geçmeden önce 4-6 U/kg haftada üç defa intranazal kalsitonin tedavisi alan altı hasta oluşturdu. Grup 2, iki ayda bir sadece tek doz 0.5-2 mg/kg dozunda pamidronat alan altı hasta idi. Bulgular: Yıllık kırık oranları Grup 1"de 2.72 ± 0.80"den 0.40 ± 0.70"e (p

WOS: 000384166801412 …

WOS: 000209012700002, PubMed ID: 22766261, 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.

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.