Alström Syndrome is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure, and systemic fibrosis. Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to play a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with Alström Syndrome. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, there different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of common ALMS1 mutations were subjected to direct DNA sequencing or next generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, 8 of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. Additionally, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. Alström Syndrome has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.

Objective: Clinicians should show an awareness on the menstrual characteristics of adolescent girls which may differ from adults in some aspects. To define menstrual cycle features among high school girls residing in a city center in southeastern Turkey.Methods: A cross-sectional survey was conducted on 1256 girls attending a high school located in the city center of Elazığ, Turkey. Data from 879 girls (median age, 16.2 years; range, 13.6-19.2 years) who agreed to participate in the study and had started to menstruate were evaluated.Results: Mean age at menarche was 12.7±1.3 years (range, 8.2-17.3 years). The mean cycle duration was 28.7±4.4 days, and the mean menstrual flow lasted 5.9±1.3 days. Severe, moderate, and mild dysmenorrhea was reported in 29%, 43%, and 28% of the girls, respectively, and 52% used analgesics for dysmenorrhea. A total of 34% of the girls defined their menstrual cycle as irregular, and 32% reported school absenteeism due to menstruation-associated complaints (pain and/or heavy bleeding). Menstrual bleeding affected attendance to classes and other school activities, daily work, social, family, and friend relationships, as well as sports/exercise activities in 43%, 49%, 58%, 48%, 44%, and 60% of the participants, respectively. In total, 30% of the responders had a problem with menstruation, and 12% and 17% of these stated that they consulted a primary care physician or specialist, respectively.Conclusion: Dysmenorrhea was found to be common in adolescent Turkish girls and to affect daily life in approximately half of the girls.

Objective: Screening of complications is an important part of diabetes care. The aim of this study was to investigate diabetic complications and related risk factors in adolescents with type 1 diabetes mellitus (T1DM).Methods: This cross-sectional study was conducted on type 1 diabetics who were over 11 years of age or had a diabetes duration of 2 years and included 155 adolescents with T1DM (67 male, 88 female). The mean age of the patients was 14.4±2.1 years. Mean diabetes duration was 6.3±2.9 years. The patients were screened for diabetic nephropathy, retinopathy and peripheral neuropathy.Results: Mean glycosylated hemoglobin (HbA1c) level of the study group was 8.4%. The frequency of microalbuminuria and peripheral neuropathy were 16.1% and 0.6%, respectively. None of the patients had diabetic retinopathy. Dyslipidemia and hypertension rates were 30.3% and 12.3%, respectively. Risk factors associated with microalbuminuria were hypertension, higher HbA1c levels, longer diabetes duration and dyslipidemia.Conclusion: Early diagnosis and treatment of hypertension and dyslipidemia as well as achieving a better metabolic control are important in prevention or postponement of complications in patients with T1DM. Yearly screening for diabetic nephropathy should be started 2 years after the onset of the diabetes. Conflict of interest:None declared.

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Diazoxide is the main therapeutic agent for persistent hyperinsulinemic hypoglycemia. Generally, it is tolerated well, but rarely it can cause severe life-threatening complications. We report a neonate who was treated with diazoxide for hyperinsulinemic hypoglycemia. On the 6th day of the treatment we observed sepsis-mimicking symptoms, mild pulmonary hypertension, and re-opening of the ductus arteriosus. All these fi ndings resolved dramatically shortly after discontinuation of treatment. To our knowledge, this is the fi rst reported case of re-opening of the ductus arteriosus due to diazoxide toxicity.

IH prevalence is higher in obese children as compared to healthy children and the increase in TSH level correlates negatively with serum fT4 and positively with BMI-SDS and triglyceride levels in obese children.

BackgroundThis study aimed to determine the frequency and duration of remission in children and adolescents newly diagnosed with type 1 diabetes and to investigate factors associated with these parameters.Material/MethodFifty patients newly diagnosed with T1DM were followed for 1 year. Daily insulin requirement of less than 0.5 U/kg/day dose when the HbA1c value is less than 8% was regarded as partial remission. Patients were grouped according to their remission duration. Clinical and laboratory characteristics of the remission groups and non-remission groups were compared to find factors influencing remission and to investigate their contribution to the duration of remission.ResultsRemission was observed in 24 (48%) out of 50 patients included in the study. Remission frequency was found to be associated with age, sex, and puberty. Longer duration of remission was more frequent in the younger age group, in pre-pubertal stage, and in male patients. Daily insulin dose and basal insulin requirement of those who went into remission was found to be significantly lower than in the other patients at discharge.ConclusionsDecreased daily total and basal insulin requirement at discharge are valuable in predicting remission. The remission process in type 1 diabetes still has many characteristics that need to be clarified. Therefore, more extensive studies are needed.

Multiple individual and family-level factors are associated with metabolic control. These data may aid in identification of diabetic children and adolescents who have a higher risk of poor metabolic control.