22 research outputs found
A novel genetic mutation in a Turkish family with GCK-MODY
Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51*(c.151.G>T) mutation in the GCK gene. © 2016, Research Society for Study of Diabetes in India
A Novel Glucokinase Gen Mutation: Mody Type-2 Case
WOS: 000384166800583
Two Patients with Resistance to Thyroid Hormones
WOS: 000384166801608
Effects of 5-Hydroxymethylfurfural on Pubertal Development of Female Wistar Rats
5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods
Two Patients with Resistance to Thyroid Hormones
WOS: 000384166801608..
Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes
Objective: Zinc transporter 8 protein (ZnT8A) is a transmembrane protein
which functions to transfer zinc to insulin vesicles. Antibodies formed
against ZnT8A (ZnT8A) are regarded as an independent autoimmunity
demonstrator in type 1 diabetes (T1D). The aim of this study was to
investigate the prevalence of ZnT8A in Turkish children with new onset
T1D.
Method: Eighty four patients between 1 - 18 years of age diagnosed with
T1D between February 2015-March 2016 and the control group consisting of
50 healthy children without any autoimmune diseases were included in the
study. Serum samples for ZnT8A testing were taken from the patient group
within a week of diagnosis. A ZnT8A enzyme-linked immunosorbent assay
was used in the analyses.
Results: ZnT8A positivity was detected in 58\% of the patients with new
onset T1D and 8\% of the control group. ZnT8A were demonstrated in 5 of
11 patients with negative results for classical diabetes antibodies
{[}insulinoma antigen-2 antibody (IA-2A), glutamic acid decarboxylase
(GAD) or insulin autoantibodies]. No association was found between ZnT8A
positivity and age, gender, presence or degree of ketoacidosis at
presentation, hemoglobin A1c, insulin or C-peptide concentration, or the
presence of either thyroid or celiac antibodies.
Conclusion: ZnT8A prevalence in children with T1D in Turkey was
compatible with the literature. The ratio of patients who are clinically
considered to have T1D but have negative routine diabetes
auto-antibodies were observed to decrease nearly by 50\% when ZnT8
antibodies were added to the panel. ZnT8 measurement should be more
widespread for clarifying the etiology in T1D
Effects of 5-Hydroxymethylfurfural on Pubertal Development of Female Wistar Rats
Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are
heated in the presence of amino acids. HMF is naturally present in many
foods. To investigate the toxic effects of HMF on the reproductive
system of peripubertal rats.
Methods: In the study, 24 immature female Wistar rat were divided into
three groups: control (CT) fed with no HMF; low dose fed with 750
mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of
HMF. All groups received these diets for three weeks from postnatal day
(PND) 21. The vaginal opening (VO) was monitored daily and euthanasia
occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and
anti-Mullerian hormone (AMH) concentrations were measured. Reproductive
organ weights and ovarian follicle counts were compared.
Results: The HD HMF group had earlier VO. Higher mean luteinising
hormone (2.9 +/- 1.2 vs 1.3 +/- 0.3 mIU/mL) and mean E2 (34.7 +/- 8.8 vs
21.2 +/- 3.9 pg/mL) and lower mean AMH (2.7 +/- 0.5 vs 4.7 +/- 0.7
ng/mL) concentrations were found in the HD compared to the CT group. The
HD group also had increased number of secondary atrophic follicles.
Conclusion: These results indicate that peripubertal exposure to HMF at
HD result in precocious puberty and decreased AMH levels in female
Wistar rats
Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children
Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results