A5077181897- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Respiratory Support and Mechanisms
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Sepsis Diagnosis and Treatment
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Blood transfusion and management
- Skin and Cellular Biology Research
- Folate and B Vitamins Research
- Cardiac, Anesthesia and Surgical Outcomes
- Pancreatic function and diabetes
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Genetics and Neurodevelopmental Disorders
- Hemodynamic Monitoring and Therapy
- Diabetes and associated disorders
- Wnt/β-catenin signaling in development and cancer
- Erythrocyte Function and Pathophysiology
- Erythropoietin and Anemia Treatment
Mayo Clinic in Arizona
2022
Aga Khan University
2021
Cukurova University
2018-2021
Mayo Clinic
2010
Early recognition of patients at high risk acute lung injury (ALI) is critical for successful enrollment in prevention strategies this devastating syndrome. We aimed to develop and prospectively validate an ALI prediction score a population-based sample risk. In retrospective derivation cohort, predisposing conditions were identified the time hospital admission. The was calculated based on results logistic regression analysis. Prospective validation performed independent cohort 409 with...
Anaemia is a common sequela of surgery, although its relationship with patient recovery unclear. The goal this investigation was to assess the associations between haemoglobin concentrations at time hospital discharge following major surgery and early post-hospitalisation outcomes, primary outcome 30 day unanticipated readmissions. This includes data from two independent population-based observational cohorts adult surgical patients (aged ≥ 18 years) requiring postoperative intensive care...
Many countries do not have a newborn screening (NBS) program, and immigrants from such are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 259 patients (20%) with diagnosed PKU were immigrants, 145 the (55%) born before NBS or in location without NBS.
What is already known on this topic? study adds?Monogenic diabetes a heterogeneous group of disorders, accounting for just 1-6% all diabetes.Variants in HNF1A, HNF4A, and GCK accounts most MODY-monogenic cases.Patient numbers information are limited less common causes monogenic forms diabetes.This the first Turkish multicenter genetic patients with molecularly diagnosed determined clinical laboratory features, admission characteristics distribution childhood.
Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years life. In so far as desperately does not exist in Turkish newborn screening (NBS) program, most our study were late-diagnosed.This included 41 diagnosed acylcarnitine profile, urinary acids, mutation analyses symptomatic period. We presented clinical, neuroradiological, and molecular data patients.The mean age at diagnosis...
Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 mut– enzymatic subtype), a defect its cofactor adenosyl-cobalamin (cblA, cblB, cblD-MMA), methylmalonyl-CoA epimerase. While onset disease ranges from neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis progressive...
Das akute Lungenversagen (acute respiratory distress syndrome, ARDS) ist ursächlich für ein postoperatives hypoxisches Atempumpenversagen und führt zu einer deutlich verlängerten Intensivstations- Krankenhausverweildauer. Sekundär steigen hierdurch die Therapie- Personalkosten im Gesundheitssystem. Auch Morbidität Mortalität sind Vergleich Patienten ohne ARDS erhöht. Die optimierte lungenprotektive Respiratortherapie sowie dezidiertes Flüssigkeitsmanagement zur Vermeidung des von zentralem...