A5067818084- Pediatric Hepatobiliary Diseases and Treatments
- Immunodeficiency and Autoimmune Disorders
- Eosinophilic Esophagitis
- Gastrointestinal disorders and treatments
- Helicobacter pylori-related gastroenterology studies
- Liver Disease Diagnosis and Treatment
- Pancreatic function and diabetes
- Trace Elements in Health
- Lipid metabolism and biosynthesis
- Pharmacological Effects and Toxicity Studies
- Sphingolipid Metabolism and Signaling
- Genetic and Kidney Cyst Diseases
- Eosinophilic Disorders and Syndromes
- Liver Diseases and Immunity
- Infant Nutrition and Health
- Metabolism and Genetic Disorders
- Pancreatitis Pathology and Treatment
- Blood disorders and treatments
- Neonatal Health and Biochemistry
- Celiac Disease Research and Management
- Inflammatory Bowel Disease
- Digestive system and related health
- Tumors and Oncological Cases
- Intestinal Malrotation and Obstruction Disorders
- Inflammasome and immune disorders
Sağlık Bilimleri Üniversitesi
2019-2024
Ministry of Health
2019-2024
Gazi University
2008-2024
Ankara Bilkent City Hospital
2023
Bilkent University
2023
Memorial Ankara Hospital
2021-2023
City Hospital
2021
Gazi Hastanesi
2008-2019
Ludwig-Maximilians-Universität München
2017
Turkish Society of Hematology
2017
Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development targeted therapies.
Congenital diarrheal disorders are rare inherited intestinal characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol acyl-CoA. We investigated the mechanisms DGAT1 deficiency contributes to failure using patient-derived organoids.We collected blood samples 10 patients, 6 unrelated pedigrees, who presented...
Myosin Vb (MYO5B) is a motor protein that facilitates trafficking and recycling in polarized cells by RAB11- RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified the majority of patients with microvillus inclusion disease (MVID). MVID an intractable diarrhea infantile onset characteristic histopathologic findings requires life-long parenteral nutrition or intestinal transplantation. A large number such eventually develop cholestatic liver disease. Bi-allelic also subset...
Portal hypertension is a major contributor to decompensation and death from liver disease, global health problem. Here, we demonstrate homozygous damaging mutations in GIMAP5, small organellar GTPase, four families with unexplained portal hypertension. We show that GIMAP5 expressed hepatic endothelial cells its loss both humans mice results capillarization of sinusoidal (LSECs); this effect also seen when selectively deleted cells. Single-cell RNA-sequencing analysis GIMAP5-deficient mouse...
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma‐glutamyltransferase (GGT) cholestasis. Here, we report whole‐exome sequencing of germline DNA from 2 unrelated children, both offspring consanguineous union, neonatal cholestasis and GGT unclear etiology. Both had a rare homozygous damaging mutation (p.Arg219* p.Val204Met) kinesin family member 12 ( KIF12 ). Furthermore, older sibling the child for p.Val204Met missense...
Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history anemia unrecognized gastrointestinal bleeding. Treatment propranolol, omeprazole failed. After 2.5 months therapy (trough levels 1 5 ng/mL), his hemoglobin concentration improved into normal range remained stable. Vascular malformations on both patient’s...
Abstract Background The aim of this study was to evaluate the effect Helicobacter pylori ( H. ) eradication on dyspepsia symptom scores in children with functional (FD). Materials and Methods One hundred fifty dyspeptic (ages 8‐18 years, mean: 13.3 ± 2.84 years; 30% male) were enrolled prospective study. Upper gastrointestinal endoscopy performed all patients, samples from gastric antrum corpus obtained for existence . 13 Carbon‐urea breath test therapy's efficacy. symptoms assessed at first...
The clinical importance and etiology of colonic lymphoid nodular hyperplasia (LNH) are not clear. It has been considered a response to some antigenic stimuli. Although food allergies, infections, inflammatory bowel diseases, immunodeficiencies may be listed in the LNH, remained unclear many cases. This study investigated LNH its relation familial Mediterranean fever (FMF) children. FMF as an etiologic factor for reported before literature.Medical files patients who underwent colonoscopy...
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in SLC5A1 encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital four unrelated, consanguineous Turkish families. Early recognition timely management eliminating glucose galactose diet are fundamental for to survive develop normally. identified novel missense variants, p.Gly43Arg p.Ala92Val, which were...
Gastric outlet obstruction (GOO) is a rare condition in childhood, with the exception of infantile hypertrophic pyloric stenosis (IHPS). However, no classification exists from pediatric gastroenterologist's perspective.
Congenital diarrheal disorders are caused by disruption in nutrient digestion, absorption, or transport, enterocyte development and functioning, enteroendocrine functioning. Many additional rare forms of congenital diarrhea expected to be linked genes associated with appropriate intestinal fluid electrolyte balance. Neurogenin-3 mutation, a very form diarrhea, disrupts cell differentiation is characterized malabsorption the absence pancreatic islet cells. Diabetes mellitus typically...
Cytomegalovirus infection can cause gastrointestinal disease, especially in immunocompromised patients and premature infants. In the neonatal period, however, involvement is infrequent. A case of cytomegalovirus enteritis jejunal stricture a preterm neonate presented. The diagnosis was established after histopathology surgical specimen demonstrated presence inclusion bodies. Every has been described literature as necrotizing enterocolitis-like illness, but none them clearly identifies...
Abstract Objectives Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases DGUOK to emphasize clinical variability disease and challenges in diagnosis deficiency. Case presentation Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, transaminase levels were detected all patients, cholestasis, coagulopathy, hypotonia common findings. All...
"Crimean-congo haemorrhagic fever in pregnancy and newborn: A case with a unique clinical course." Journal of Obstetrics Gynaecology, 34(4), p. 360
Chronic granulomatous disease (CGD) is a primary immune deficiency that commonly diagnosed under the age of 5 years (95%) and rarely seen in adulthood. CGD may manifest as inflammatory bowel (IBD) childhood. Without proper diagnosis, these patients be monitored for IBD; some even regarded steroid-resistant ulcerative colitis (UC) end up having colectomy. In this case report, we described patient who had been followed-up UC subsequently underwent colectomy, but was finally adulthood deficiency.
Amaç: Bu çalışmada; akut pankreatit, tekrarlayan pankreatit ve kronik tanısı ile izlenen çocukların klinik, laboratuvar etiyolojik farklılıklarının değerlendirilmesi amaçlanmıştır.Gereç Yöntem: Ocak 2009 - Eylül 2018 tarihleri arasında çocuklar geriye dönük olarak değerlendirilmiştir. Akut pankreatit; ataklar tüm bulguların tamamen normale döndüğü 2 veya daha fazla atak tanımlanmıştır. Kronik ise; tipik karın ağrısı birlikte görüntülemede karakteristik varlığı ekzokrin endokrin pankreas...
Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile nonalcoholic steatohepatitis (NASH) related the genetic causes, respectively.Both patients benefited from phlebotomy even if they had different etiologies.In childhood, diagnosis of syndromes is crucial because do not confront us obvious symptoms findings. Early initiation a program can prevent mortality. NASH might lead to...
Eosinophilic esophagitis (EoE) and gastroesophageal reflux disease are among the major causes of isolated esophageal eosinophilia. Isolated eosinophilia meeting criteria for EoE may respond to proton pump inhibitor (PPI) treatment. This entity is termed pumps responsive (PPI-REE). Gastro-esophageal thought comprise a subgroup patients with PPI-REE. According latest guidelines, PPI responsiveness distinguishes people PPI-REE from having (non-responders). In this report, two unusual cases...