A5075252779- Thyroid Disorders and Treatments
- Diabetes Management and Research
- Growth Hormone and Insulin-like Growth Factors
- Metabolism and Genetic Disorders
- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Childhood Cancer Survivors' Quality of Life
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Diabetes and associated disorders
- Erythrocyte Function and Pathophysiology
- Pituitary Gland Disorders and Treatments
- Adrenal Hormones and Disorders
- Adolescent and Pediatric Healthcare
- Bone health and treatments
- Neuroscience of respiration and sleep
- Cardiovascular Function and Risk Factors
- Congenital heart defects research
- Neuroblastoma Research and Treatments
- Renal and related cancers
- Alkaline Phosphatase Research Studies
- Autoimmune and Inflammatory Disorders Research
- Blood disorders and treatments
- Neurogenetic and Muscular Disorders Research
Bursa Uludağ Üni̇versi̇tesi̇
2012-2024
Sakarya University
2015-2017
Pediatrics and Genetics
2016
Ministry of Health
2015
Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some CH GIS, systematic these eight has not previously been undertaken. Our objective was to evaluate contribution and molecular spectrum causative (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, TSHR) GIS. We screened 49 GIS from 34 ethnically diverse families,...
Defects in genes mediating thyroid hormone biosynthesis result dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations SLC26A7 6 unrelated families with goitrous CH and show that also occurs Slc26a7-null mice. In both species, the gene is expressed predominantly gland, loss of function associated impaired availability iodine for synthesis, partially corrected mice by supplementation. a member same transporter family as SLC26A4 (pendrin), an anion...
Summary Objective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis ( TDH ). Context Thyroid comprises 10–15% all cases congenital hypothyroidism CH ), which is most common neonatal endocrine disorder, and might result from disruptions at any stage hormone biosynthesis. Currently seven genes NIS , TPO PDS TG IYD DUOX 2 DUOXA ) have been implicated in aetiology disease. Design As mostly inherited an autosomal recessive manner, planned conduct study...
Nationwide Study of Turner Syndrome ABS TRACTObjective: syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and genetic background affected girls.This study aimed to systematically investigate key TS in relationship large pediatric Turkish patient population.Methods: Our retrospective included 842 karyotype-proven patients aged 0-18 years who were evaluated 35 different centers Turkey...
Type 1 diabetes is a chronic illness which can have negative effect on the health care and development of children put their lives in danger. This descriptive study aimed to determine quality life factors affecting it adolescents with type using Pediatric Quality Life Inventory (PedsQL).The was conducted Child Endocrinology Unit University Hospital Bursa, Turkey. Totally 64 eight-12 years 85 aged 13-18 parents were recruited. HbA1c measurements obtained from records endocrinology clinicare,...
Reduced bone mineral density and increased fracture risk have been reported in children with cancer. In this study, we aimed to determine the growth (BMD) of off chemotherapy for acute lymphoblastic leukemia, probable factors.The age, anthropometric measurements, lumbar spine BMDs were recorded 70 children. The factors on BMD; daily calcium intake, time interval from completion chemotherapy, cranial radiotherapy, cumulative steroid dose, decrease physical activity investigated. Serum...
The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical biochemical features. With the exception congenital adrenal hyperplasia (CAH), disorders that cause (GIPP) uncommon. literature is devoid any large-scale studies on etiologic distribution GIPP. aim this study was to determine frequency each etiology in a cohort patients with GIPP (excluding those CAH), evaluate laboratory features these patients. This multicenter, nationwide web-based...
Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes genotype/phenotype correlations consanguineous families with CHNG.Because consanguinity individuals a presumptive genetic condition is often an indicator recessive inheritance allows firmer established between genotype phenotype, we planned execute our study families.Hundred...
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions thyroid organogenesis mostly sporadic, but about 2% dysgenesis familial, indicating involvement genetic factors aetiology disease. In this study, we aimed investigate Mendelian (single-gene) causes non-syndromic non-goitrous congenital (CHNG) consanguineous or multi-case families. Here report second part (n=105)...
Ori gi nal Ar tic le 9 4 In tro duc ti onCongenital adrenal hyperplasia (CAH) is an inherited disease caused by deficiency of certain enzymes responsible for steroid synthesis.In about 90% all CAH cases, the deficient enzyme 21-hydroxylase.The aim treatment to replace hormones, namely, glucocorticoids and mineralocorticoids.However, achieving a good compliance in these patients not always easy.While excessive exposure may result obesity, short stature, hypertension, insufficient replacement...
We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases pediatric hyperprolactinemia in a large multicenter study.We reviewed records 233 hyperprolactinemic patients, under 18 years age, who were followed by different centers. The patients divided as having microadenomas, macroadenomas, drug-induced idiopathic hyperprolactinemia. Complaints their mode treatment (medication and/or surgery) outcomes evaluated detail.The mean age with was 14.5 years,...
It is well established that testicular differentiation of the human embryonic gonad depends on action Y-chromosomal gene SRY. However, exceptional cases such as SRY-negative 46,XX disorder sexual development (DSD), and ovotesticular DSD document tissue can develop in absence SRY gene. These XX sex reversal are very rare usually sporadic, but a few familial have been reported. We present large, consanguineous family with nine affected individuals phenotypes ranging from to DSD, predominance...
The aim of this study was to identify the sensitivity electrocardiogram (ECG) in early diagnosis cardiac autonomic function disorder children with type 1 diabetes mellitus.A total 150 and adolescents mellitus were enrolled between June 2009 2010, as well 100 age- sex-matched healthy control children. Twelve-lead ECG done all cases heart rate, QT QTc interval, dispersion P wave (Pd), (QTd) interval (QTcd) measured. clinical demographic features such age, gender, duration follow up level HbA1c...
Background There are no studies on the use of complementary and alternative medicine (CAM) therapies in subjects with inherited metabolic disease (IMD) current literature. This study aimed to determine type, frequency reasons for use, factors associated CAM therapies. Methods Subjects included this consisted 335 children (95.7%) 15 (4.3%) adults a median age 5.66±6.16 (0.08-48) years disease. A single physician conducted face-to-face interviews mother and/or father pediatric themselves...
Hepatoblastoma, an embryonal tumor, is one of the most common primary liver tumors in childhood. It secretes human chorionic gonadotropin (hCG), which can cause precocious puberty (PP). Herein, we present a case with PP who had enlarged penile size noticed during diagnosis hepatoblastoma. Laboratory examination revealed increased testosterone, alpha-fetoprotein (AFP), and hCG levels. Serum follicle-stimulating hormone (FSH) luteinizing (LH) levels were within prepubertal ranges. The...
Post-treatment endocrine disturbances are common in cancer patients who have received radiotherapy or chemotherapy. The objective of this study was to evaluate the thyroid functions long-term survivors pediatric Hodgkin's lymphoma treated with chemotherapy and radiotherapy.Thyroid 55 (M/F:2.05/1) complete remission were evaluated retrospectively.The mean age at diagnosis 10.35±4.09 (range: 2.83-17) years follow-up period 5.54±3.68 0.92-13.92) years. All chemotherapy; a total 50 (90.9%)...
Glycine N-methyltransferase deficiency is an inherited disorder of methionine metabolism, reported so far in only four patients and characterised by permanent hypermethioninemia. This has been considered as probably benign because moderate hepatomegaly two was the obvious symptom mild to elevation aminotransferases laboratory abnormality. Our experience with current novel patient points out that this disease, due very high hypermethioninemia, not harmless there may be diagnostic pitfalls...
There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, date, our knowledge, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred institution...
The prevalence of childhood obesity has been dramatically increasing worldwide. This study was performed to examine the and etiological factors in children aged 6-12 years investigate relative contribution exogenous with respect sociodemographic data.A total 5368 eight urban elementary schools located Bursa, fourth largest city Turkey, were included this cross-sectional study. A dietary record for three days a questionnaire assessment socio-economic demographic parameters completed by...
Lipodystrophies are a group of diseases characterized by loss fat tissue and associated with insulin resistance. A six-year-old girl followed the diagnosis autoimmune hepatitis showed severe tissue, hyperinsulinemia, impaired glucose tolerance, hypertriglyceridemia low serum complement 4 (C4) levels. She had coarse facial features generalized subcutaneous prominent muscularity. Remarkable acanthosis nigricans was present over neck, axilla, umbilicus. Two hours after loading, tolerance test...
The objective of the study was to evaluate pubertal development and linear growth Turner Syndrome (TS) girls regularly monitored in our department.The data 13 patients with TS were evaluated retrospectively. Left hand radiograms by three different pediatric endocrinologists determine bone ages.Six (46.2%) treated oral estrogens, while 7 (53.8%) transdermal estrogen. ratios chronological age (CA) difference (BA) (ΔCA/ΔBA) two groups estrogen compared at time last control. ΔCA/ΔBA ratio...