A5091205117- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Infectious Diseases and Tuberculosis
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- RNA regulation and disease
- Virology and Viral Diseases
- Tuberculosis Research and Epidemiology
- Autism Spectrum Disorder Research
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Injury Epidemiology and Prevention
- Medical Imaging and Pathology Studies
- Traffic and Road Safety
- Neonatal and Maternal Infections
- Cellular transport and secretion
- Neurological diseases and metabolism
- Neurological and metabolic disorders
- Sepsis Diagnosis and Treatment
- Orthopedic Infections and Treatments
- Galectins and Cancer Biology
- Mitochondrial Function and Pathology
- Brucella: diagnosis, epidemiology, treatment
- Diagnosis and treatment of tuberculosis
Diyarbakır Askeri Hastanesi
2016-2023
Dicle University
2000-2020
Children's Hospital of Eastern Ontario
2020
University of Ottawa
2020
Fatih University Medical Faculty Hospital
2011
Pediatric Infectious Diseases Society
2001
Objectives. To determine whether adjunctive therapy with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) could reverse sepsis-associated neonatal neutropenia and improve survival to assess its safety compared conventional in a control group. Study Design. This prospective, randomized, controlled trial was performed 60 infants clinical signs of sepsis. A subcutaneous injection rhGM-CSF (5 μg/kg/day) administered 30 the patients for 7 consecutive days. Hematologic...
Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure function neuromuscular junction. Patients with congenital syndrome exhibit fatigable muscle weakness variety accompanying phenotypes depending on protein affected. A cohort patients clinical diagnosis that lacked genetic underwent whole exome sequencing order to identify causation. Missense biallelic mutations MYO9A gene, encoding an unconventional myosin, were...
Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical descent. Constant developments next-generation sequencing created possibilities to combine whole-exome (WES) and homozygosity a single step.Basic optimization parameters was performed group with autosomal-recessive (AR) mutations which both single-nucleotide polymorphism (SNP) array WES data were available. We varied the criteria...
Abstract Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk autosomal recessive genetic conditions, leading to severe disability or premature death, with significant health and economic burden. A definitive molecular diagnosis could not be achieved these children previously, as infrastructures access sophisticated diagnostic options were limited. We studied the cause neurogenetic disease 246 from 190 consanguineous families recruited three Turkish...
Amitraz is an acaricide and insecticide indicated for the treatment of generalized demodicosis in dogs control ticks mites cattle sheep. There little information available human literature about toxicology product. In this study, clinical laboratory features amitraz poisoning 11 children are presented. The age range ofthe patients was 2-1/2 to 6 years. Accidental ingestion improperly stored liquid pesticide determined all patients. Unconsciousness (100%), drowsiness myosis (84%) were most...
Pulmonary alveolar microlithiasis (PAM) is a lung disease characterized by deposits of calcium within the alveoli. Our aim was to emphasize familial character and clinical features disease, draw attention increasing number Turkish patients reported in world. We detected 6 cases PAM. Three had been diagnosed 4 years earlier, 3 new were during screening family members. All male mean age 11.5 ranging between 5 29 years. Five cousins other one their uncle. Radiographic studies showed sand-like...
Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical studies. More than 2400 exome sequencing data sets were analyzed and screened autozygosity on the basis detection >1 Mbp runs homozygosity (ROHs). A model was built to predict if individual likely be consanguineous offspring (accuracy, 98%), probability consanguinity ranges established according total ROH size. Application resulted in reclassification status 12% patients. The...
In 2009, we identified TACO1 as a novel mitochondrial disease gene in single family, however no second family has been described to confirm the role of disease.In this report, describe two independent consanguineous families carrying pathogenic variants TACO1, confirming phenotype.Detailed clinical investigations and whole exome sequencing with haplotype analysis have performed several members reported families.Clinical phenotype patients confirms originally childhood-onset progressive...
Nutritional vitamin B12 deficiency is common in developing and underdeveloped countries has a wide variety of neurological presentations. The aim this study was to evaluate the characteristics laboratory results infants with deficiency. Materials methods: A total 42 were included study. All patients evaluated for clinical, physical, abnormalities, an attempt made obtain short-term neurologic follow-up. Results: Of patients, 24 (57%) boys 18 (43%) girls. average age at diagnosis 13.04 ± 5.68...
Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by measles virus (MV). Its prevalence remains high in resource poor countries and likely to increase Northern Europe as vaccination rates decrease. Clinical knowledge this devastating condition, however, limited. We therefore conducted multinational survey summarizing experience obtained from more than 500 patients treated 24 physicians seven countries. SSPE should be considered all...
Abstract A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay facial dysmorphism, caused heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating located throughout gene, missense changes principally at C-terminal end of protein mostly resulting haploinsufficiency . Through whole exome sequencing, we identified a homozygous variant patient showing more severe symptoms than...
<h3>Objective</h3> This study presents the neurologic phenotypes of 2 brothers with a novel homozygous <i>COL4A1</i> mutation that was identified in large Turkish consanguineous cohort neurogenetic diseases. <h3>Methods</h3> Whole-exome sequencing and bioinformatic analysis families children affected by early-onset, disorders performed using RD-Connect Genome-Phenome Analysis Platform. We also clinical, EEG, neuroimaging analyses unaffected siblings parents. <h3>Results</h3> have missense...
Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental in childhood. Although inborn errors of metabolism (IEM) are rare causes ASD, they significant for several reasons, including implications genetic counseling and determination prognosis. In this article, we present a 6-year-old boy who presented to us with ASD was diagnosed creatine transporter deficiency. Physical neurologic examination patient had not previously raised suspicion IEM, but twin pregnancy,...
Microtubules help building the cytoskeleton of neurons and other cells. Several components gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, epilepsy carrying homozygous mutation (p.Glu311Lys) TUBGCP2 encoding γ-tubulin 2 (GCP2) protein. This variant is predicted to disrupt electrostatic interaction GCP2 GCP3. In...
High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome infantile age group is very rare and only a few patients have been reported to date literature. Here, we report case 6-month-old male child whose parents admitted hospital for overweight skin fragility.