Tag: quality of life
Sphingomyelinase Deficiency
Sphingomyelinase Deficiency: Definition and Description of Sphingomyelinase Deficiency: Sphingomyelinase Deficiency, also known as Niemann-Pick Disease type A and B, is a rare genetic disorder characterized by a deficiency of the enzyme sphingomyelinase. This enzyme plays a critical role in lipid metabolism, particularly in breaking down sphingomyelin, a type of lipid found in cell membranes. When…
Reconstructive Surgery
Reconstructive Surgery: Definition and Description of Reconstructive Surgery: Reconstructive surgery is a specialized area of surgical intervention aimed at restoring form and function to parts of the body that have been affected by trauma, disease, congenital defects, or surgical complications. This field encompasses various procedures, including but not limited to, breast reconstruction following mastectomy, cleft…
Refractory Epilepsy
Refractory Epilepsy: Definition and Description of Refractory Epilepsy: Refractory epilepsy, also known as drug-resistant epilepsy, is a condition where seizures remain uncontrolled despite adequate treatment with at least two antiepileptic medications. This form of epilepsy is particularly challenging as it significantly impacts the quality of life of affected individuals. The term ‘refractory’ refers to the…