Gene therapy then and now: A look back at changes in the field over the past 25 years
Gene therapy then and now: A look back at changes in the field over the past 25 years Abstract Since the launch of Molecular Therapy in 2000, the field of […]
Diagnostic delays in rare genetic disorders with neuropsychiatric manifestations
Abstract A systematic review of case reports, case series, and case-control studies was conducted to quantify the diagnostic delay in 84 rare genetic diseases where neuropsychiatric symptoms may be primary or […]
Supportive and Symptomatic Care for Women with Gaucher Disease
Supportive and Symptomatic Care for Women with Gaucher Disease Overview Women with Gaucher disease should receive standard Gaucher-specific treatment and monitoring, with additional attention to female reproductive health. Since enzyme […]
Healthy Lifestyle to Reduce Cardiovascular Risk and Liver Disease in Gaucher Disease (GD)
Introduction As patients with stable Gaucher disease (GD) age, they may develop cardiovascular risk factors such as hypertension and metabolic syndrome. Lifestyle and dietary interventions are important for reducing these […]
European Fabry Working Group (2015): Recommendations for Enzyme Replacement Therapy (ERT) in Fabry Disease
Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to accumulation of Gb3 and progressive kidney, heart, and nervous system damage. ERT (agalsidase […]
Inborn errors of metabolism
Background Inborn errors of metabolism (IEMs) are a large group of rare genetic disorders that usually arise from defects in enzymes or transport proteins, leading to blockages in normal metabolic […]
New approaches and procedures for cancer treatment: Current perspectives.
Abstract Cancer is a global health issue, responsible for one in six deaths worldwide. Treating cancer has long been complex, relying on traditional methods like surgery, chemotherapy, and radiotherapy. However, […]
Neuro-ophthalmic evaluation and management of pituitary disease
Abstract Neuro-ophthalmic evaluation is crucial for diagnosing pituitary diseases and optic chiasm issues, and for timing vision-restoring surgery. Pituitary adenomas, which often affect vision, can cause reduced vision, color changes, […]
Breaking the Barriers of Therapy Resistance: Harnessing Ferroptosis for Effective Hepatocellular Carcinoma Therapy
Abstract: Ferroptosis, an iron-dependent cell death marked by lipid peroxidation and reactive oxygen species, influences hepatocellular carcinoma (HCC) growth and treatment resistance. It’s more prevalent in HCC than in normal […]
Medical Billing vs. Medical Coding Understanding the Differences
Abstract Medical billing and coding are crucial components of the healthcare industry, ensuring that healthcare providers are accurately compensated for their services and that patients are billed correctly. While these […]
