Publications by authors named "I Gokce"
Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.
Objective: To identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.
Resistance to Epoetin-Stimulating Agents in Children Receiving Renal Replacement Therapy.
Clin Pediatr (Phila)
December 2024
The incidence of anemia increases with the stage of chronic kidney disease (CKD). Erythropoietin (EPO) deficiency is a common cause of anemia in CKD. Erythropoietin-stimulating agents (ESAs) are the mainstay of the treatment.
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- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Objective: Despite advances, myelomeningocele remains a major cause of mortality and disability. This study aims to analyze factors influencing mortality and suggest ways to reduce it.
Methods: We reviewed 173 patients who underwent surgery for myelomeningocele from January 2010 to December 2021.
Article Synopsis
- The study evaluates the knowledge and response of dental interns and post-graduate doctors regarding various dental emergencies, revealing that while both groups have similar theoretical knowledge, actual encounter rates for interns are low.
- Findings showed that syncope is the most commonly seen emergency, and greater experience among doctors correlates with improved intervention skills in specific situations like epilepsy and anaphylactic shock.
- The research suggests that despite feeling knowledgeable, interns may lack practical skills due to infrequent exposure to emergencies, emphasizing the need for regular training sessions to enhance their preparedness for real-life situations.