Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in gene.

Objectives: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 () genes, is a rare hereditary cause of extremely low serum magnesium levels. We describe an infant with triggered seizures due to hypomagnesemia and a novel mutation in gene was identified.

Case Presentation: A 10-month-old boy presented with multidrug resistant seizures, and axial hypotonia due to severe hypomagnesemia.

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and in Children with Autoantibody-negative Type 1 Diabetes Mellitus.

Objective: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14 MODY-related genes and the regulator factor X6 () gene in children.

Global value chains participation and trade-embodied net carbon exports in group of seven and emerging seven countries.

A vast literature has examined the empirical link between gross exports and total carbon emissions for different country groups. However, countries' increasing participation in global value chains (GVCs) challenges this traditional approach since the gross measures neglect trade-embodied carbon emissions and intermediates-driven value-added trade. Therefore, this study scrutinizes how backward participation (foreign contents in domestic exports) and forward participation (domestic contents in foreign exports) in GVCs affect per capita net exports of trade-embodied carbon dioxide emissions.

Evaluation of Clinical and Laboratory Findings in the Differential Diagnosis of Central Precocious Puberty and Premature Thelarche.

Aim: In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8.

Materials And Methods: The chronological age, anthropometric measurements, bone age (BA), hormone test results and pelvic ultrasonography findings of the cases were recorded. Those with a peak luteinizing hormone (LH) level of ≥5 IU/L in the gonadotropin-releasing hormone (GnRH) stimulation test were classified as CPP and those with a peak LH level of <5 IU/L were classified as prepubertal cases.

Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses.

Early puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrinology clinic with concerns about early puberty. Girls and their mothers who were admitted to endocrinology outpatient clinic with concerns about early puberty were compared to healthy control group.