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    Factors Associated with Low Bone Mineral Density at the Time of Diagnosis in Children with Celiac Disease
    (Galenos Publ House, 2023) camtosun, Emine; Varol, Fatma Ilknur; Gungor, Suekrue; Selimoglu, Mukadder Ayse
    Objective: It has been reported that bone mineral density (BMD) is decreased in children with Celiac disease (CD) compared to their healthy peers. The aim of this study was to reveal possible risk factors for low BMD in Turkish children newly diagnosed with CD. Methods: Eighty-six patients (2-18 years old) with CD were included in this retrospective study. The relationship between their lumbar BMD z-scores calculated according to their chronological age (CA) and height age (HA) and their clinical, laboratory [biochemical parameters, tissue transglutaminase antibody-IgA (TTGA) levels, human leukocyte antigen (HLA) types] and histopathological parameters were evaluated.Results: The mean age of the patients at diagnosis was 8.06 +/- 4.08 years. The BMD z-score CA was <=-2 standard deviation (SD) in 26.7% of the patients. The BMD z-score HA was <=-2 SD in 12.8% of the patients. The BMD z-score HA only correlated with their age at diagnosis of CD (rs value 0.269). However, there was no statistically difference between the BMD z-score HA >-2 SD and <=-2 SD subgroups regarding their clinical, laboratory and histopathological parameters. Conclusion: Low BMD is common in children with newly diagnosed CD. Age at diagnosis, gender, body size, Celiac symptoms, biochemical parameters, TTGA level, HLA type, and histopathological stage had no predictive values in terms of low BMD in this patient group.
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    TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
    (Galenos Yayincilik, 2022) Kayas, Leman; camtosun, Emine; Akinci, Aysehan; Bircan, Rifat
    An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient's mother did not have Graves' disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH.