7 hasil untuk "Burcu, Guven"

Ganglioneuroma in a child with chronic constipation and abdominal pain

Burcu Guven; Akkiz Sahin Yasar; Burhan Beger dkk.

Medicine Science, Vol. 7 No. 4 · 2018 · Inggris · DOAJ

Background: Ganglioneuromas are rare, benign, slow-growing tumors arising from the neural crest. They are most commonly in posterior mediastinum, retroperitoneum, adrenal medulla and neck. They are very rare in presacral region. Case Report: A 15 year old girl presented with abdominal pain and…

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

Burcu, Guven; Bellacchio, Emanuele; Sag, Elif dkk.

Int J Mol Sci · 2020 · Inggris · PubMed Central

Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition…

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Gulcin Aytac; Burcu Guven; Ilyas Aydin dkk.

Case Reports in Immunology, Vol. 2023 · 2023 · Inggris · DOAJ Scopus

Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male…

Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients

Karaca, Neslihan Edeer; Severcan, Ezgi Ulusoy; Bilgin, Burcu Guven dkk.

Int J Immunopathol Pharmacol · 2018 · Inggris · PubMed Central

Common variable immunodeficiency (CVID) and immunoglobulin A deficiency (IgAD) are the most prevalent primary immunodeficiency disorders. High rates of familial inheritance have been described in CVID and IgAD, but it is unknown in different ethnic populations. We aimed to determine the prevalence…

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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Necil Kutukculer; Ezgi Topyildiz; Afig Berdeli dkk.

Clinical Case Reports, Vol. 9 No. 4 · 2021 · Inggris · DOAJ Dikeluarkan Scopus 2021

Abstract We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long‐term clinical and genetical experiences. Some CVID patients have the same disease‐causing mutations in PLCG2 gene, so it may be better to define all of them…

Early onset congenital diarrheas; single center experience

Murat Cakir; Elif Sag; Burcu Guven dkk.

Pediatrics and Neonatology, Vol. 62 No. 6 · 2021 · Inggris · DOAJ Scopus

Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. Methods…