Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Hüseyin DEMİRBİLEK"'
Autor:
Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 329-333 (2023)
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has bee
Externí odkaz:
https://doaj.org/article/b651e69acbc8494fac0c0d6b3485c796
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
SUMMARY Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother. The index case was
Externí odkaz:
https://doaj.org/article/05c860892ec34e3ea87e3fbcc154cf98
Autor:
Şervan Özalkak, Ruken Yıldırım, Selma Tunç, Edip Ünal, Funda Feryal Taş, Hüseyin Demirbilek, Mehmet Nuri Özbek
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 172-178 (2022)
INTRODUCTION: Objective: The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in Diyarbakır in 2011. The aim of
Externí odkaz:
https://doaj.org/article/c47d4ecb51e04c26b855b01bbd4a87c8
Autor:
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuro
Externí odkaz:
https://doaj.org/article/98ad2c4ca25547f1b7b9db3e4bc101ad
Autor:
Edip Unal, Meliha Demiral, Birsen Baysal, Mehmet Ağın, Elif Gökçe Devecioğlu, Hüseyin Demirbilek, Mehmet Nuri Özbek
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 72-79 (2021)
Objective:The prevalence of celiac disease (CD) varies between 1% and 10% in patients with type 1 diabetes mellitus (T1DM). This study aimed to determine the frequency of spontaneous recovery of celiac serology and the biopsy-proven CD (BPCD) frequen
Externí odkaz:
https://doaj.org/article/2a3006ffcbb546aebcbf1460e144f5fa
Autor:
Meliha Demiral, Edip Unal, Birsen Baysal, Rıza Taner Baran, Hüseyin Demirbilek, Mehmet Nuri Özbek
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 295-302 (2020)
Objective:The aim was to determine the final adult height (FAH) achieved by recombinant human growth hormone (rhGH) treatment, the factors affecting FAH and the success of attaining the genetic potential.Methods:Data of 133 patients treated with rhGH
Externí odkaz:
https://doaj.org/article/3e87d44003e14d6b8391a76e802c7d50
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 275-280 (2020)
Objective:The tendency to reduce thyroid stimulating hormone (TSH) referral cut-off values in congenital hypothyroidism (CH) neonatal screening programs has resulted in an increase in the incidence of CH, but also the referral of infants with mild tr
Externí odkaz:
https://doaj.org/article/da9649e38402486aac50cf15236fa002
Autor:
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 319-328 (2020)
A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the
Externí odkaz:
https://doaj.org/article/1c06cfd81cee4e519a345ca423c68241
Autor:
Gül Durmuş, Ozlem Boybeyi-Turer, Hatice Nursun Özcan, Onur Gözmen, Hüseyin Demirbilek, Tutku Soyer
Publikováno v:
European Journal of Pediatric Surgery Reports, Vol 10, Iss 01, Pp e80-e83 (2022)
The fusion of gonadal structures with internal organs is very rare. The close proximity between the left gonad and spleen during embryogenesis may result in splenogonadal fusion (SGF). Moreover, the trapping of hepatocyte-destined mesenchyme cells in
Externí odkaz:
https://doaj.org/article/53cb8031ac3b4422b01122ad7f38247d
Autor:
Emregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain
Publikováno v:
JCRPE, Vol 11, Iss 1, Pp 82-87 (2019)
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaem
Externí odkaz:
https://doaj.org/article/8384f2496da844cb900247c1b0b77220