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Now showing 1 - 10 of 96
  • PublicationMetadata only
    Report of a Patient With Temple-Baraitser Syndrome
    (2014-03-01) YEŞİL, GÖZDE; Guler, Serhat; Yuksel, Adnan; ALANAY, Yasemin; YEŞİL, GÖZDE
  • PublicationOpen Access
    A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood
    (2017-10-01) YILDIZ, Edibe Pembegul; YEŞİL, GÖZDE; OZKAN, Melis Ulak; BEKTAS, Gonca; CALISKAN, Mine; OZMEN, Meral; YEŞİL, GÖZDE
  • PublicationMetadata only
    A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature
    (2020-06-01T00:00:00Z) Al, Asli Derya Kardelen; Poyrazoglu, Sukran; Aslanger, Ayca; YEŞİL, Gözde; Ceylaner, Serdar; Bas, Firdevs; Darendeliler, Feyza; YEŞİL, GÖZDE
    Introduction:Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the neonatal onset form of the disease. IAD presents with hypoglycemia and prolonged jaundice in the neonatal period.TBX19is important for both pro-opiomelanocortin (POMC) gene transcription and differentiation ofPOMC-expressing cells. We describe 2 patients, 1 with a reported and 1 with a novelTBX19mutation, and present information about the long-term follow-up of these patients.Case Presentation:Both patients had critical illnesses, recurrent hypoglycemia, convulsions, and neonatal hyperbilirubinemia. They also had low cortisol and ACTH levels, while other pituitary hormones were within the normal range. Pituitary imaging was normal. After hydrocortisone treatment, there was resolution of the hypoglycemia and the convulsions were controlled. Genetic studies of the patients revealed both had inherited a homozygous mutation of theTBX19gene. The first patient had an alteration of NM_005149.3:c.856C>T (p.R286*) and the second patient had a novel NM_005149.3:c.584C>T (p.T195I) mutation, analyzed by next-generation sequencing. The noteworthy findings of the patients at follow-up were: short stature, microcephaly, and decreased pubic hair in the first, and dysmorphic features, Chiari type 1 malformation, tall stature, and low bone mineral density (BMD) in the second.Conclusion:Congenital IAD can be life-threatening if it is not recognized and treated early.TBX19mutations should be considered in the differential diagnosis of IAD. Further cases or functional analyses are needed for genotype-phenotype correlations. Low BMD, dysmorphic features, Chiari type 1 malformation, and sparse pubic hair are some of the important features in these patients.
  • PublicationMetadata only
    Follow up four cerebrotendinous xanthomatosis patients importance of early diagnosis and treatment.
  • PublicationMetadata only
    Yeni mutasyon tespit edilen Sandhof Hastalığı vakası
  • PublicationOpen Access
    Pseudohypoparathyroidism Type Ia with Normocalcemia
    (2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDE
    Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.
  • PublicationMetadata only
    (2016-05-01) Guler, Serhat; Sakalli, Erdal; YEŞİL, GÖZDE; YEŞİL, GÖZDE
    Objective: Migraine and allergic rhinitis (AR) represent common childhood and adolescent conditions. The aim of this study to assess AR prevalence, treatment outcome, and clinical issues in childhood and adolescence migraine patients.
  • PublicationMetadata only
    Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.
    (2019-09-16) Yavas, Abali; Yesil, GÖZDE; Kirkgoz, T; Cicek, N; Alpay, H; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDE
  • PublicationMetadata only
    Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene
    (2019-09-01) Celikboya, Ezgi; Cansever, Mehmet Serif; Zubarioglu, Tanyel; YEŞİL, GÖZDE; Akinci, Nurver; YEŞİL, GÖZDE
    Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications.
  • PublicationMetadata only
    Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients
    (2020-10-01T00:00:00Z) ÖĞÜLÜR, İSMAİL; Ertuzun, Tugce; KOCAMIŞ, BURCU; Kendir Demirkol, Yasemin; Uyar, Emel; KIYKIM, Ayça; Baser, Dilek; YEŞİL, Gözde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc-Aydiner, Elif; MÜFTÜOĞLU, Meltem; BARIŞ, SAFA; YEŞİL, GÖZDE
    Background Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children. Methods Lymphocyte phenotyping to enumerate T- and B-cell subsets was performed. Functional analyses included in vitro quantified gamma-H2AX, poly (ADP-ribose) polymerase (PARP) and caspase-9 proteins. Chromosomal instability was determined by comet assay. Results We analyzed 20 AT patients (14F/6M), 31 parents (16F/15M), and 35 age-matched healthy controls. The AT patients- parents exhibited low frequency of naive CD4(+)T- (n = 14, 45%) and recent thymic emigrants (n = 11, 35%) in comparison with the age-matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9/14, 64%). In comparison with age-matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline gamma-H2AX levels and H2O2-induced DNA damage as well as increased cleaved caspase-9 and PARP proteins. Conclusion Parents of AT patients could present with recurrent infections and display cellular defects that mimic AT patients. The observed immunological changes could be associated with increased DNA double-strand breaks.