Publications by authors named "F Gumruk"
Objective: To evaluate the effects of Fanconi anemia (FA) on retinal and choroidal microvasculature using Optical Coherence Tomography (OCT) and Optical Coherence Tomography Angiography (OCTA).
Design: Cohort study with age-matched controls.
Subjects And Participants: This study included 11 eyes from 11 patients diagnosed with FA and 12 eyes from 12 age-matched healthy controls.
Article Synopsis
- Fanconi anemia (FA) is a genetic disorder that leads to bone marrow failure, causing low blood cell counts and increased cancer risk, along with various physical abnormalities.
- A study identified a specific genetic mutation, a large deletion in the FANCA gene, as a common cause among eight individuals from six unrelated Turkish families, highlighting the importance of genetic research in understanding the disease.
- The researchers developed a simple PCR test for this mutation, facilitating accurate diagnosis and genetic counseling for affected individuals and their families, especially in the Turkish population.
Background: Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.
Case: Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included.
Article Synopsis
- Fanconi anemia (FA) is a genetic condition leading to bone marrow failure, and while hematopoietic stem cell transplantation (HSCT) can provide long-term survival, patients face ongoing health challenges after treatment.
- A study of 36 FA patients who had undergone HSCT showed significant long-term issues, including hormonal imbalances, growth impairments, and signs of metabolic syndrome, highlighting the need for better follow-up care guidelines.
- Key findings included gonadal dysfunction in 35% of patients, pulmonary function issues in nearly half, and a small percentage developing secondary cancers, emphasizing the importance of addressing late effects of HSCT in FA survivors.
Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017.
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