Pediatric and inherited neurovascular diseases.

Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience

Frequency of Medical Futility and its Costs in Deceased Neonates with a Probable Diagnosis of Inherited Metabolic Disorder in Children’s Medical Center, Iran

Background and purpose: Futile medical care is referred to any medical intervention or activity that bring no benefit to patients. The aim of this study was to evaluate the frequency of futile treatment and its cost in neonates with a probable diagnosis of inherited metabolic disorder. Materials and methods: In this cross-sectional study, hospitalization records of all admitted neonates in Chi...

The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. B...

Seizure following acute hemolysis caused by Glucose-6-phosphate dehydrogenase Deficiency

Background: Storage of platelet concentrates (PCs) at room temperature (20-24°C) limits its storage time to 5 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme deficiency of the human red blood cells . Most of G6PD deficient individuals are asymptomatic, but acute hemolytic anemia may be presented with nausea, vomiting, abdominal pain, headache,...

The inherited bone marrow failure syndromes.

Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsecti...