Tag: patient stories

  • Immunodeficiency with Ataxia Telangiectasia

    Immunodeficiency with Ataxia Telangiectasia Definition and Description of Immunodeficiency with Ataxia Telangiectasia Immunodeficiency with Ataxia Telangiectasia (A-T) is a rare genetic condition that primarily affects the immune system and is characterized by progressive neurological decline. A-T results from mutations in the ATM gene, which is crucial for DNA repair and cellular response to stress. This…

  • Infectious Chorea

    Infectious Chorea Definition and Description of Infectious Chorea Infectious Chorea is a neurological disorder characterized by involuntary, irregular movements of the body, particularly affecting the arms, legs, and face. It is associated with an underlying infectious process that disrupts the normal functioning of the nervous system. This condition can result from a variety of infectious…

  • IgA Nephropathy

    IgA Nephropathy Definition and Description of IgA Nephropathy IgA Nephropathy, also known as Berger’s disease, is a kidney disorder characterized by the deposition of immunoglobulin A (IgA) in the glomeruli, which are the tiny filtering units of the kidneys. This buildup triggers inflammation, potentially leading to reduced kidney function. The condition can range from mild…

  • How to Measure Peak Expiratory Flow

    How to Measure Peak Expiratory Flow Definition and Description of How to Measure Peak Expiratory Flow Peak Expiratory Flow (PEF) is a significant measurement used to assess lung function, particularly in individuals with respiratory conditions like asthma or chronic obstructive pulmonary disease (COPD). It refers to the maximum speed at which a person can exhale…

  • Hospice Care

    Hospice Care Definition and Description of Hospice Care Hospice care is a specialized form of medical care that focuses on providing comfort and support to individuals facing life-limiting illnesses. It emphasizes quality of life over curative treatment, helping patients and their families navigate the emotional, spiritual, and practical challenges associated with serious health conditions. Typically,…

  • Hereditary Angioedema

    Hereditary Angioedema Definition and Description of Hereditary Angioedema Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body. These episodes can span from the face, limbs, gastrointestinal tract, to the airways, leading to potential life-threatening complications. The swelling results from an imbalance in…

  • Hemophilia B

    Hemophilia B Definition and Description of Hemophilia B Hemophilia B, also known as Christmas disease, is a rare genetic bleeding disorder caused by a deficiency in clotting factor IX. This condition results in the impaired ability of blood to clot, leading to prolonged bleeding after injuries, surgeries, or sometimes even spontaneously. Individuals with Hemophilia B…

  • Hammer, Claw, Mallet Toe Surgery, Deciding About

    Hammer, Claw, Mallet Toe Surgery, Deciding About Definition and Description of Hammer, Claw, Mallet Toe Surgery, Deciding About Hammer, claw, and mallet toe surgery refers to surgical interventions aimed at correcting deformations of the toes, which can result from underlying conditions such as arthritis or bunions. These conditions are characterized by abnormal flexion of the…

  • Giant Cell Glioblastoma, Astrocytoma

    Giant Cell Glioblastoma, Astrocytoma Definition and Description of Giant Cell Glioblastoma, Astrocytoma Giant Cell Glioblastoma (GCB) is a rare and aggressive subtype of glioblastoma, which is a type of brain tumor derived from astrocytes, the star-shaped glial cells in the brain and spinal cord. It is classified as a World Health Organization (WHO) grade IV…

  • Gingivitis

    Gingivitis Definition and Description of Gingivitis Gingivitis is a common and mild form of gum disease (periodontal disease) that causes irritation, redness, and swelling (inflammation) of the gingiva, the part of your gum around the base of your teeth. It is usually caused by poor oral hygiene that encourages plaque to form on teeth, leading…