Essential tremor is considered to be a tremor syndrome characterized by isolated bilateral upper-limb action tremor with a duration of at least 3 years, with or without tremor in other locations, such as head, larynx (voice tremor), or lower limbs.
Essential tremor frequently manifests with additional mild neurologic signs of diagnostic uncertainty, such as mild ataxia, questionably abnormal posturing of the limbs, or impaired memory. This presentation is classified as “essential tremor plus. Continue reading →
Primary hypoparathyroidism is a condition characterized by hypocalcemia and hyperphosphatemia resulting from the primary absence or deficiency of parathyroid hormone (PTH) or from the secretion of biologically inactive PTH. Continue reading →
The pseudotumor cerebri syndrome (PTCS) may be primary (idiopathic intracranial hypertension) or arise from an identifiable secondary cause. Characterization of typical neuroimaging abnormalities, clarification of normal opening pressure in children, and features distinguishing the syndrome of intracranial hypertension without papilledema from intracranial hypertension with papilledema have furthered our understanding of this disorder. Continue reading →
Antiphospholipid antibody syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis, complications during pregnancy, and the presence of antiphospholipid antibodies (APL) in plasma. Continue reading →
Acne is a primary inflammatory disorder involving the pilosebaceous unit. The
pathogenesis is multifactorial, involving four key factors with interrelated mechanisms: increased sebum production, hyperkeratinization of the follicular infundibulum, inflammation, and Cutibacterium acnes (formerly Propionibacterium acnes). Continue reading →
Testing for H. pylori is recommended in patients with peptic ulcer disease, gastric cancer, or gastric mucosa–associated lymphoid tissue lymphoma (MALToma). Other recommended indications for testing include dyspepsia, prolonged use of nonsteroidal antiinflammatory drugs or aspirin, unexplained iron-deficiency anemia, and immune thrombocytopenia. Continue reading →
The Lynch syndrome is the most common inherited syndrome associated with colorectal cancer, accounting for 3% of new diagnoses; it is also associated with extracolonic cancers, the most common of which is endometrial cancer.
The Lynch syndrome phenotype includes a propensity for cancers of the proximal colon, poor tumor differentiation with mucinous or signet-ring cell histologic features or a medullary growth pattern, abundant infiltrating lymphocytes in the tumor, and synchronous and metachronous colorectal cancers. Continue reading →
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. Continue reading →