Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the abnormal accumulation of the amino acid cystine within cells. This accumulation is caused by mutations in the CTNS gene, which encodes the lysosomal cystine transporter, cystinosin. The disease primarily affects the kidneys but can extend to multiple organ systems, leading to severe
Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder characterized by the inability of the kidneys to concentrate urine, leading to excessive urination (polyuria) and extreme thirst (polydipsia). Unlike central diabetes insipidus, which results from deficient antidiuretic hormone (ADH) production, NDI occurs when the kidneys do not respond properly to ADH (vasopressin). This resistance causes
Neovascular age-related macular degeneration (nAMD), also known as wet AMD, is a progressive eye disease that primarily affects the macula, the central part of the retina responsible for sharp vision. It is characterized by abnormal blood vessel growth (choroidal neovascularization) beneath the retina, leading to fluid leakage, hemorrhage, and eventual vision loss. Unlike dry AMD,
A neoplasm of the breast refers to an abnormal and uncontrolled growth of cells within the breast tissue. These neoplasms may be benign (non-cancerous) or malignant (cancerous), with the latter posing significant health risks. Early identification and categorization are crucial for successful management and prognosis. Classification of Breast Neoplasms Benign vs. Malignant Neoplasms Primary vs.
A neoplasm of the brain, also referred to as a brain tumor, is an abnormal growth of cells within the brain or central nervous system (CNS). These tumors can be benign (non-cancerous) or malignant (cancerous) and may arise from brain tissues (primary tumors) or spread from cancers located in other parts of the body (secondary
Neoplasms Associated with von Hippel Lindau Disease: Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant hereditary cancer syndrome characterized by the development of benign and malignant tumors in multiple organ systems. This multisystem disorder arises due to germline mutations in the VHL tumor suppressor gene located on chromosome 3p25.3, which plays a critical role
Neonates at High Risk of Infection: Neonates, particularly those born preterm or under compromised maternal conditions, are highly susceptible to infections due to immature immune responses and exposure to pathogenic organisms during or after delivery. Infections in this population can rapidly progress to sepsis, meningitis, or pneumonia, requiring vigilant screening, prompt intervention, and robust infection
Neonatal thyrotoxicosis is a rare but potentially life-threatening endocrine disorder in newborns, characterized by excessive thyroid hormone levels within the first month of life. Most commonly, it results from transplacental passage of thyroid-stimulating immunoglobulins (TSIs) from mothers with Graves’ disease. Prompt recognition and treatment are essential to prevent serious complications, including heart failure and developmental
Neonatal Seizure: Neonatal seizures are defined as abnormal, excessive electrical discharges in the brain of a newborn occurring within the first 28 days of life. Unlike seizures in older children or adults, neonatal seizures often present subtly and can be challenging to detect. Early recognition and management are critical due to their association with underlying
Neonatal pneumonia is a serious lung infection in newborns that can occur due to bacterial, viral, or fungal pathogens. It is a leading cause of neonatal morbidity and mortality, especially in preterm and low-birth-weight infants. The condition can be classified as congenital (intrauterine), early-onset, or late-onset pneumonia, depending on the time of infection. Early identification