Volume CXIV, Number 4, November 7, 1996

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 lifespa

Genetic Etiology of Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations. IHH is practically divided into two major groups according to the olfactory function: normal sense of smell (normosmia) nIHH, and reduced sense of smell (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations in more than 50 genes have been associated with IHH so far, only half of those cases were explained by gene mutations. Various combinations of deleterious variants in different genes as causes of IHH have been increasingly recognized (Oligogenic etiology). In addition to the complexity of inheritance patterns, the spontaneous or sex steroid-induced clinical recovery from IHH, which is seen in approximately 10–20% of cases, blurs further the phenotype/genotype relationship in IHH, and poses challenging steps in new IHH gene discovery. Beyond helping for clinical diagnostics, identification of the genetic mutations in the pathophysiology of IHH is hoped to shed light on the central governance of the hypothalamo-pituitary-gonadal axis through life stages. This review aims to summarize the genetic etiology of IHH and discuss the clinical and physiological ramifications of the gene mutations

Catalytic membrane contactor, Polyoxometalates, FT-IR, SEM, EDS analysis

msufbdIn 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.45926

THE FIRST REPORTED TWIN CASES WITH MUCOPOLYSACCHARIDOSES VI ON ENZYME REPLACEMENT TERAPY

WOS: 000309837800481

Comparison of Calcitonin and Pamidronate Treatments in Children with Osteogenesis Imperfecta

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&#177;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 &#177; 0.80 to 0.40 &#177; 0.70 (p<0.05) in group 1, from 3.50 &#177; 0.54 to 0.40 &#177; 0.49 (p<0.001) in group 2, and from 4.50 &#177; 3.30 to 0.32 &#177; 0.41 (p<0.001) in total 12 patients. The Z-score of bone mineral density increased from -4.12 &#177; -0.60 to -3.80 &#177; -1.0 in calcitonin group (p>0.05), and from -3.08 &#177; -0.61 to -2.29 &#177; -0.56 in pamidronate group. The difference between the Z-scores of bone mineral density after calcitonin and pamidronate treatments was statistically significant (p<0.05). The Z-scores of pre (-3.44 &#177; -0.96) and post (-2.47 &#177; -0.60) pamidronate treatments of whole 12 patients were significantly different (p<0.001). Conclusion: Pamidronate was significantly more effective in reducing pain, annual fracture rate, and increasing bone mineral density and mobility than calcitonin without any severe adverse effects even in the neonatal period and severe forms of osteogenesis imperfecta. [Cukurova Med J 2013; 38(4.000): 667-674

Gender decision in disorders of sex development (DSD) patients: 20 years' experience

WOS: 000485922403084

Kallmann Syndrome Due to a Homozygous Missense c.217C > T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

WOS: 000384166801412

DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism

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

Withdrawal syndrome and hypomagnesaemia and in a newborn exposed to valproic acid and carbamazepine during pregnancy

WOS: 000382992500010PubMed ID: 27489470The usage of drugs during pregnancy affect the fetus and the newborn. In this report, we present findings from a newborn baby, whose mother was epileptic, and was under the treatment of valproic acid and carbamazepine during pregnancy. We have found symptoms of withdrawal syndrome, hyponatremia and feeding problem, which was most probably related to exposure to the mentioned drugs. We have also diagnosed hypomagnesaemia and atrial septal defect 4 milimeters in diameter. There are already many reports about the side effects of valproic acid and carbamazepine usage during pregnancy. To the best of our knowledge, hypomagnesaemia has not yet been reported as a side effect. We think that hypomagnesaemia is also related to the usage of antiepileptics