ChandraSekhar X-linked hypophosphatemic osteomalacia (XLH) is a rare, inherited phosphate-wasting disorder that affects bone mineralization. It is the most common genetic form of rickets and osteomalacia, resulting from mutations in the PHEX gene located on the X chromosome. This mutation leads to increased levels of fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and
X-linked agammaglobulinemia (XLA), also known as Bruton’s agammaglobulinemia, is a rare primary immunodeficiency characterized by an almost complete absence of mature B lymphocytes and immunoglobulins in the blood. Caused by mutations in the BTK (Bruton Tyrosine Kinase) gene, this condition impairs the body’s ability to produce antibodies, rendering affected individuals highly susceptible to recurrent bacterial
X-linked adrenoleukodystrophy (X-ALD) is a rare, inherited peroxisomal disorder that predominantly affects males. Characterized by the accumulation of very long-chain fatty acids (VLCFAs) in various tissues, it leads to progressive damage of the adrenal cortex, spinal cord, and white matter of the brain. The disorder stems from mutations in the ABCD1 gene, resulting in impaired
Wound irrigation is a fundamental aspect of wound management involving the controlled application of fluid to cleanse and remove exudates, foreign material, bacteria, and cellular debris. Effective irrigation reduces the risk of infection, supports the healing process, and improves overall wound outcomes. It is especially critical in managing acute traumatic injuries, surgical sites, chronic ulcers,
Wounds are disruptions in the normal anatomical structure and function of the skin and underlying tissues, often resulting from physical injury, surgery, or medical conditions. Proper wound assessment and management are critical to promoting healing, preventing infection, and preserving tissue integrity. Classification of Wounds: Acute vs Chronic Acute Wounds Acute wounds occur suddenly and typically
Wiskott-Aldrich Syndrome (WAS) is a rare, X-linked recessive primary immunodeficiency disorder characterized by a clinical triad of eczema, thrombocytopenia with small platelets, and recurrent infections due to combined immunodeficiency. The syndrome is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich Syndrome protein (WASp), essential for the normal functioning of blood cells, particularly
Wilson’s disease is a rare autosomal recessive genetic disorder characterized by excessive accumulation of copper in vital organs, primarily the liver and brain. It is caused by mutations in the ATP7B gene, responsible for encoding a protein crucial in copper transport. In healthy individuals, copper is absorbed from food and excess amounts are excreted via
Wilms’ tumor, also known as nephroblastoma, is the most common form of kidney cancer in children. It primarily affects children under the age of five and accounts for approximately 6% of all childhood cancers. Due to advancements in diagnostic techniques and multimodal therapy, Wilms’ tumor now boasts a survival rate exceeding 90% in developed countries.
Colorectal cancer (CRC) is a biologically diverse malignancy characterized by distinct molecular profiles. One such molecular subtype includes tumors that are wild-type RAS (lacking mutations in KRAS and NRAS) and HER2-positive, representing a unique and actionable subgroup. HER2 (human epidermal growth factor receptor 2) overexpression or amplification, traditionally associated with breast and gastric cancers, has
Colorectal cancer (CRC) remains a leading cause of cancer-related morbidity and mortality worldwide. In recent years, molecular diagnostics have transformed CRC treatment, particularly through identification of biomarkers such as epidermal growth factor receptor (EGFR) expression and wild-type KRAS status. This combination—wild-type KRAS, EGFR-positive colorectal cancer—defines a patient subset highly responsive to EGFR-targeted therapies, offering a