Search Results - "Zeynep Siklar"
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1
Management of endocrinological problems in children on home invasive mechanical ventilation
Published in Pediatric pulmonology (01-08-2024)“…Children with home invasive mechanical ventilation (HIMV) face numerous difficulties, including endocrine problems that can arise as a consequence of their…”
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2
Clinic Heterogeneity and Management of Pediatric Patients With Germline RET Proto-oncogene Mutation: Single-center Experience
Published in Journal of pediatric hematology/oncology (01-10-2023)“…Inherited forms of medullary thyroid carcinoma (MTC) can cause serious problems in diagnosis and follow-up. Family screening is performed, and prophylactic…”
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Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Published in Journal of clinical research in pediatric endocrinology (01-03-2023)“…The tRNA methyltransferase 10 homologue A ( ) gene encodes tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of…”
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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Published in Journal of bone and mineral research (01-08-2016)“…ABSTRACT Spondyloocular syndrome is an autosomal‐recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding…”
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The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway
Published in Journal of clinical research in pediatric endocrinology (01-12-2020)“…“Nonketotic-hypoinsulinemic hypoglycemia (NkHH)” is a very rare problem of glucose consumption increase without hyperinsulinism. This disorder has mainly been…”
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Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Metabolically Healthy and Metabolically Unhealthy Obese Children
Published in Journal of clinical research in pediatric endocrinology (01-12-2022)“…The harmful or beneficial effect of obesity on bone mineral density (BMD) remains controversial in children and adolescents. Fibroblast growth factor 21…”
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Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene
Published in Journal of clinical research in pediatric endocrinology (01-09-2024)“…Dyshormonogenesis (DG) is the failure of thyroid hormone production due to a defect in thyroid hormonogenesis. Loss-of-function mutations in the thyroglobulin…”
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Evaluation of Renal Function in Obese Children and Adolescents Using Serum Cystatin C Levels, Estimated Glomerular Filtration Rate Formulae and Proteinuria: Which is most Useful?
Published in Journal of clinical research in pediatric endocrinology (01-03-2019)“…There is a growing interest in the relationship between obesity and renal damage. The effect of obesity on renal function in children and adolescents has not…”
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The impact of high-fat and high-protein meal of adolescents with type 1 diabetes mellitus receiving intensive insulin therapy on postprandial blood glucose level: a randomized, crossover, breakfast study
Published in International journal of diabetes in developing countries (01-06-2021)“…Background In addition to carbohydrate count, this study aims to investigate the impact of the determination of bolus insulin doses by fat and protein counts…”
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10
Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience
Published in Journal of clinical research in pediatric endocrinology (01-09-2023)“…Abnormal uterine bleeding (AUB) is adolescent girls' most common gynecologic complaint. This study aimed to determine the diagnostic and management differences…”
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11
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
Published in Diabetologia (01-02-2022)“…Aims/hypothesis Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly…”
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The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results
Published in Journal of clinical research in pediatric endocrinology (01-12-2022)“…Cardiac involvement is common in Noonan syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular…”
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Intramuscular short-term ACTH test for the determination of adrenal function in children: safe, effective and reliable
Published in Journal of clinical research in pediatric endocrinology (01-09-2020)“…Standart short ACTH stimulation test (SST) has been used for detecting adrenal gland fuction for several years by intravenous (iv). However iv form has not…”
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14
Syndromic disorders with short stature
Published in Journal of clinical research in pediatric endocrinology (01-01-2014)“…Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the…”
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Comprehensive Insights Into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes from a Multicenter Study
Published in Journal of clinical research in pediatric endocrinology (01-09-2024)“…Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the…”
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Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship
Published in Journal of clinical research in pediatric endocrinology (01-09-2024)“…Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous…”
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Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
Published in Journal of clinical research in pediatric endocrinology (01-09-2021)“…To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. The data of 52…”
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Impact of the COVID-19 pandemic on diabetic ketoacidosis management in the pediatric intensive care unit
Published in Acute and critical care (01-08-2023)“…Background: Diabetic ketoacidosis (DKA) is a common endocrine emergency in pediatric patients. Early presentation to health facilities, diagnosis, and good…”
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17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort
Published in Endocrine (2024)“…Purpose 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms…”
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Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
Published in Journal of clinical research in pediatric endocrinology (01-12-2021)“…Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was…”
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