25,729 articles
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency, also known as Schindler disease or NAGA deficiency, is a very rare lysosomal storage disease first described in 1987, caused by deficient activity of the NAGA enzyme.
Alpha-synuclein
Alpha-synuclein (α-synuclein, SNCA gene product) is a 140-residue presynaptic protein; misfolded β-sheet aggregates form Lewy bodies in Parkinson's disease, dementia with Lewy bodies, and MSA, and seed amplification assays detect it diagnostically.
Alpha-thalassemia (α-thalassemia)
Alpha-thalassemia (α-thalassemia), also called alpha thalassemia, is an inherited anemia from HBA1/HBA2 alpha-globin gene deletions, ranging from silent carrier and trait to HbH disease and fatal Hb Bart hydrops fetalis; mitapivat approved 2025.
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR-16 syndrome (OMIM 141750), alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, is a rare contiguous gene deletion of 16p13.3 removing HBA1/HBA2, causing alpha-thalassemia with variable intellectual disability, unlike X-linked ATR-X.
Alpha-thalassemia-myelodysplastic syndrome
Alpha-thalassemia-myelodysplastic syndrome (ATMDS, acquired hemoglobin H disease) is a rare acquired alpha-thalassemia caused by somatic ATRX mutations in myelodysplastic syndrome, affecting mainly older men, with about 80 cases reported.
Alpha-tocopherol
Alpha-tocopherol (α-tocopherol) is the principal vitamin E form, the only one meeting human requirements, selectively retained by hepatic alpha-tocopherol transfer protein; trial evidence on supplementation and mortality is mixed.
Alpidem
Alpidem (Ananxyl, SL 80.0342) is a withdrawn imidazopyridine anxiolytic related to zolpidem, acting at the ω1 GABAA receptor site; launched in France in 1991 and withdrawn in 1995 for hepatotoxicity.
Alport syndrome
Alport syndrome, a hereditary nephritis caused by COL4A3, COL4A4, or COL4A5 variants, causes hematuria, progressive kidney failure, hearing loss, and eye defects; treated with early RAS blockade, no FDA-approved drugs.
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, or AMME complex, is a rare X-linked contiguous gene deletion syndrome at Xq22.3 involving COL4A5, FACL4, and AMMECR1, affecting males with Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis.
Alpra trial
Alpra (NCT03702803) is a Mexican IMSS Phase 2 double-blind randomized trial comparing Galphimia glauca standardized extract (0.374 mg Galphimine-B) with alprazolam 1 mg daily for 10 weeks in generalized anxiety disorder; published results showed similar efficacy with less daytime sleepiness.
Alprazolam
Alprazolam (Xanax) is a short-acting, high-potency Schedule IV benzodiazepine approved in 1981 for generalized anxiety and panic disorder, with rapid onset, CYP3A4 metabolism, and prominent withdrawal and misuse risks.
Alrizomadlin
Alrizomadlin (APG-115, AA-115) is Ascentage Pharma's oral spiro-oxindole MDM2-p53 inhibitor (IC50 3.8 nM) in phase I/II cancer trials, with six FDA orphan drug designations and no approval yet.
ALS
ALS (amyotrophic lateral sclerosis, Lou Gehrig's disease) is a fatal motor neuron disease causing progressive paralysis; most die within 3-5 years of symptom onset; riluzole, edaravone, and tofersen are approved treatments.
ALS Functional Rating Scale - Revised
ALSFRS-R (ALS Functional Rating Scale-Revised), 12-item 0-48 ordinal scale for ALS disability across bulbar, fine motor, gross motor, and respiratory domains; 1999 Cedarbaum revision, standard clinical trial primary outcome.
ALS study (NCT00821132)
NCT00821132, "Genetics of Familial and Sporadic ALS," is a Northwestern University observational genetic study led by Teepu Siddique, running 1991 to 2023 with 13,521 enrollees, collecting blood, CSF, and tissue samples from ALS families to identify ALS risk genes.
ALS–frontotemporal spectrum
The ALS–frontotemporal spectrum is a continuum of neurodegenerative disease in which amyotrophic lateral sclerosis and frontotemporal dementia overlap, sharing TDP-43 pathology and C9orf72 genetics, formally termed ALS-FTSD.
Alström syndrome
Alström syndrome is a rare autosomal recessive multisystem genetic disorder caused by ALMS1 variants, first described in 1959, causing blindness, hearing loss, obesity, diabetes, and heart failure.
Alteplase
Alteplase (Activase, Actilyse) is a recombinant tissue plasminogen activator thrombolytic for acute ischemic stroke, myocardial infarction, massive pulmonary embolism, and catheter occlusion; FDA approved 1987, 0.9 mg/kg stroke dosing, main risk bleeding.
Altered level of consciousness
Altered level of consciousness (ALOC), also called altered mental status, is decreased responsiveness to external stimuli, ranging from lethargy and confusion through stupor to coma, and accounts for up to 10% of emergency department complaints.
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC), an ultra-rare ATP1A3-related neurodevelopmental disorder, causes infantile-onset alternating hemiplegic episodes, dystonia, nystagmus, and dysautonomia that remit with sleep; flunarizine is the main treatment.
Alternating skew deviation
Alternating skew deviation is a supranuclear vertical eye misalignment that reverses with gaze direction, affecting about 12% of skew deviation patients, usually from pretectal, cerebellar, or cervicomedullary lesions.
Alternative DSM-5 model for personality disorders
The Alternative DSM-5 Model for Personality Disorders (AMPD) is a hybrid dimensional and categorical system in Section III of DSM-5, rating impairment and 25 pathological traits.
Alternative medicine
Alternative medicine (CAM): medical systems, practices, and products outside standard care, used in place of (alternative) or alongside (complementary) conventional medicine. Includes supplements, acupuncture, yoga, Ayurveda, homeopathy; studied by NCCIH and governed by WHO TCIM strategy 2025–2034.
ALTERPRONE trial
ALTERPRONE (NCT03719937) was a single-center pilot physiological trial at Catholic University of the Sacred Heart testing 100 g/kg anterior chest wall loading for 3 hours supine as an alternative to prone positioning in moderate-to-severe ARDS; suspended during the COVID-19 pandemic.
Altretamine
Altretamine (hexamethylmelamine, Hexalen) is an oral alkylating antineoplastic approved by FDA in 1990 for palliative treatment of persistent or recurrent ovarian cancer; discontinued in the US, with limited activity in platinum-refractory disease.
Aluminium bone disease
Aluminium bone disease (aluminium-related osteomalacia, dialysis-related adynamic bone) is defective bone mineralization from aluminium accumulation in dialysis and CKD patients, caused by aluminium hydroxide binders and contaminated dialysis water; diagnosed by bone biopsy or DFO test, treated with deferoxamine and aluminium withdrawal.
Aluminium excess
Aluminium excess (ICD-11 5B91.4), body aluminium overload causing bone disease, encephalopathy, and infant neurodevelopmental harm, mainly in kidney failure, dialysis, and parenteral nutrition patients.
Aluminium toxicity in people on dialysis
Aluminium toxicity in dialysis patients: accumulation from contaminated dialysate water and aluminium phosphate binders, causing dialysis dementia, osteomalacia, and microcytic anemia; prevented by reverse osmosis water and monitored via serum aluminium and DFO tests.
Alvarado score
The Alvarado score, also known as MANTRELS, is a 10-point clinical scoring system introduced by Alfredo Alvarado in 1986 to estimate the probability of acute appendicitis.
Alveltamig
Alveltamig (ZG006) is a DLL3/DLL3/CD3 trispecific T-cell engager by Suzhou Zelgen for SCLC and neuroendocrine carcinoma; phase 1 SCLC ORR 74.2%, FDA orphan-drug and China breakthrough designations, now in phase 3.