A5088674896- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Diet and metabolism studies
- Peroxisome Proliferator-Activated Receptors
- Folate and B Vitamins Research
- Musculoskeletal pain and rehabilitation
- Forensic Toxicology and Drug Analysis
- ATP Synthase and ATPases Research
- Vitamin C and Antioxidants Research
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Renal function and acid-base balance
- Vitamin K Research Studies
- Pain Mechanisms and Treatments
- Epilepsy research and treatment
- Drug Transport and Resistance Mechanisms
- Biological Research and Disease Studies
- Food Allergy and Anaphylaxis Research
- Psychosomatic Disorders and Their Treatments
- Restraint-Related Deaths
- Hedgehog Signaling Pathway Studies
- COVID-19 Impact on Reproduction
- Dermatoglyphics and Human Traits
- Pharmacogenetics and Drug Metabolism
Kocaeli Üniversitesi
2021-2024
Sağlık Bilimleri Üniversitesi
2018-2023
Memorial Ankara Hospital
2020-2021
Ministry of Health
2016-2021
Medical Genetics Center
2021
Bağcılar Eğitim ve Araştırma Hastanesi
2014-2018
Ankara Numune Eğitim ve Araştırma Hastanesi
2016
Hacettepe University
2013
Biochemical markers play an important role in the early diagnosis of abdominal pain. This study aimed to investigate diagnostic value intestinal type fatty acid binding protein (I-FABP) patients with pathology.This prospective and descriptive was performed at University Hospital Emergency Department. Serum I-FABP levels presenting acute pain were measured time admission compared those healthy individuals.The mean level 171 enrolled this 170.1±543.4 pg/ml, while that a control group 61.4±47.4...
Objective: Acute abdominal pain is a common cause of admission to the emergency department. Differential diagnosis not easy for physician. In this study, results physical examination, blood biochemical analysis and radiological imaging in patients presenting department with were evaluated. These findings compared literature. Material Methods: This study was designed as cross-sectional descriptive study. One hundred sixty-six included. Patient examination findings, amylase, D-dimer leukocyte...
Methanol is a highly toxic substance and methanol poisoning results in severe health situations. occurs when it consumed by various methods such as orally, inhalation, transdermally. Transdermal rarely seen causes complications.A 59-year-old male patient was admitted to the emergency room due blurred vision knee pain. He had wrapped alcohol soaked cotton around his knees because of pain, left for 10 hours at night. On physical examination only exhibited redness. Upon funduscopic examination,...
Abstract Malonyl-CoA, a product of acetyl-CoA carboxylase is metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it involved the de novo fatty acid synthesis elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), 55-kDa enzyme catalyses conversion malonyl-CoA to carbon dioxide, thus providing route for disposal from mitochondria peroxisomes, whereas cytosol, pool regulated by balance MLYCD activities. So far, 34 cases with different gene defects...
OBJECTIVES: Determining neuropathic pain component (NPC) among patients with chronic low back pain-radicular (CLBP-RP) and the adjustment between scales of pain. MATERIAL-METHODS: One hundred one CLBP-RP were included in study. The severity was eval uated by visual analogue scale (VAS). Douleur Neuropathique 4 Questions (DN4) Leeds Assessment Neuropathic Symptoms Signs Scales (LANSS) used to evaluate NPC. RESULTS:The mean score assessed VAS 80 mm. NPC detected a rate 65.3% DN4 40.6% LANSS....
Objectives . Diagnosis of pediatric patients presenting to the Emergency Department with acute abdominal pain is not always easy. The purpose this study was investigate effectiveness irisin, a peptide hormone reactivity shown in appendix and neutrophils, differential diagnosis pain. Methods 162 subjects consenting participate, including 112 Pediatric Surgery clinics 50 controls, were enrolled study. Blood collected from all following initial examination for WBC, CRP investigation. Results...
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic can be presenting signs peroxisomal disorders. Here we presented dysmorphic facial features other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years 1 year the patients. Case I was one-year-old girl that neurodevelopmental delay, hepatomegaly, bilateral hearing loss,...
Acil serviste akut ayak bileği burkulmalarının standart tedavisi kompresyondur
Abstract Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 frequently identified childhood, ABCB4 disease-causing alleles have been described adults affected of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and sporadic forms primary biliary...
Objective: To compare the oxidative stress status between patients with mucopolysaccharidosis who received and did not receive enzyme replacement therapy healthy control group. Material Methods: A retrospective study of analysis total oxidant antioxidant capacity levels. Results: We included 29 aged 1-18 years 50 children. Total parameters this group were compared. The median age in was 9.0 cases 8.0 years. capacity, Oxidative Stress Index (OSI) values differ significantly receiving compared...
Introduction: Combined oxidative phosphorylation deficiency-12 (COXPD12) is a rare autosomal recessive disorder. Neurological findings and lactic acidosis can be presenting signs of COXPD12. Case Presentation: Here, we present identical dysmorphic facial features that have not been described before in the literature, 2 patients with two different EARS2 gene variants. 1 was 2.5-month-old male who presented hypotonia acidosis. Cranial magnetic resonance imaging (MRI) showed diffusion...
Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features scurvy lead to frequent misdiagnoses, they can often point other diseases, such vasculitis, venous thrombosis musculoskeletal disorders. As such, an extensive workup is recommended in cases which suspected.A 21-month-old male patient 36-month-old female presented difficulty walking, painful joint...
Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia” because of resemblance pelvic shape to snail. More recently, SLC35D1 much milder phenotypes dysplasia. Our report describes one such individual novel variant. Case Presentation: A 17-year-old male coarse face and short stature was referred our clinic. On his radiographic imaging, shortness long bones metaphyseal flaring were detected. Using...
Background. The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial deficiency (MTPD), rare condition that leads to failure converting certain fats energy characterized by decreased activity three enzymes in enzyme complex. Signs and symptoms MTPD may present during infancy or later life; those begin after include hypotonia, muscle pain, rhabdomyolysis, peripheral neuropathy. We report Turkish boy diagnosed with being...
MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive disorder caused by mutations in the serine active site-containing protein 1 (SERAC1) gene. clinically characterized sensorineural hearing loss, encephalopathy, hepatopathy, 3-methylglutaconic aciduria, lesions on cranial magnetic resonance imaging. During neonatal period, it has been reported to present with hypoglycemia,...
Journal of Pharmaceutical Research International (ISSN: 2456-9119) is dedicated to publish high quality papers in all areas pharmaceutical Science including drugs, community pharmacy, hospital clinical compounding consultant internet veterinary nuclear military pharmacy informatics, pharmaceutics, medicinal chemistry, pharmacognosy, pharmacotherapy, pharmacodynamics, pharmacokinetics, pharmacology, neuropharmacology, psychopharmacology, pharmacogenetics, pharmacogenomics,...