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Human health and medicine

25,729 articles

Dyssegmental dysplasia, Silverman-Handmaker type

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH, MIM 224410), also called lethal Kniest-like syndrome, is a lethal autosomal recessive skeletal dysplasia from HSPG2 (perlecan) null mutations, marked by anisospondyly, micromelia, and neonatal death.

Dyssomnia

Dyssomnia: umbrella term for sleep disorders affecting the amount, quality, or timing of sleep, including insomnia, hypersomnia, narcolepsy, and sleep apnea; a DSM-IV-TR and ICSD category retired in DSM-5 and ICSD-2/3 in favor of sleep-wake disorders.

Dysspondyloenchondromatosis

Dysspondyloenchondromatosis (DSC), enchondromatosis type V, is a rare non-hereditary skeletal disorder combining multiple enchondromas with irregular vertebral malformations (anisospondyly), short stature, scoliosis, and joint deformities.

Dysthymia

Dysthymia, now persistent depressive disorder (PDD), is chronic mild depression lasting two years or more; DSM-5-TR dropped the dysthymia label; US past-year prevalence 1.5%, lifetime 2.5%.

Dysthyroid orbitopathy

Dysthyroid orbitopathy, also called thyroid eye disease or Graves' orbitopathy, is an autoimmune orbital disorder driven by TSHR and IGF-1R antibodies, causing proptosis, diplopia, and sometimes dysthyroid optic neuropathy, treated by glucocorticoids, biologics, and surgery.

Dystonia

Dystonia, also known as dystonic disorders or distonia, is a movement disorder causing repetitive abnormal postures and movements, the third most common movement disorder after Parkinson's disease and essential tremor.

Dystonia 16

Dystonia 16, formally DYT-PRKRA, is a rare autosomal recessive dystonia caused by PRKRA gene variants, beginning in childhood, often in a limb, with prominent laryngeal involvement.

Dystonia 28

Dystonia 28 (DYT28, DYT-KMT2B) is a rare autosomal dominant dystonia caused by heterozygous KMT2B variants or 19q13.12 deletions, starting in childhood with lower-limb dystonia that generalizes, with developmental delay and response to anticholinergics and GPi DBS.

Dystonia-plus

Dystonia-plus is a category of movement disorders in which dystonia occurs with other neurological features such as myoclonus or parkinsonism, without neurodegeneration; its three main syndromes are dopa-responsive dystonia, myoclonus-dystonia, and rapid-onset dystonia-parkinsonism.

Dystrophic epidermolysis bullosa pruriginosa

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr, EBP, OMIM 604129) is a rare COL7A1-driven subtype of dystrophic epidermolysis bullosa marked by intense pruritus, prurigo-like nodules on extensor limbs, nail dystrophy, and delayed adult onset.

Dystrophinopathy

Dystrophinopathy: spectrum of DMD gene disorders including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-related dilated cardiomyopathy; X-linked, 1 in 3,600 male births, reading-frame rule with exceptions.

Dysuria

Dysuria is painful or burning urination, usually from lower urinary tract infection, most often cystitis or STI urethritis; also caused by irritants, stones, atrophic vaginitis, interstitial cystitis, and tumors.

e-Health trial

e-Health trial (NCT02980237, e-Health Education Program at Workplace): Brazilian cluster randomized controlled trial testing nine Moodle video classes on musculoskeletal, dietary, and mental health for office workers; tutor support added no benefit over the conventional program.

e-Resiliencia trial

The e-Resiliencia trial tested a web-based training tool that equips healthcare middle managers in Spain's Valencian Community to strengthen their teams' resilience in critical situations.

E. Albert Reece

E. Albert Reece is a Jamaican-born American obstetrician-scientist in maternal-fetal medicine known for research on diabetes-induced birth defects and prenatal diagnosis, including embryofetoscopy.

E. Antonio Chiocca

E. Antonio Chiocca, known as Nino Chiocca, is an Italian-born American neurosurgeon who chairs neurosurgery at Mass General Brigham and develops oncolytic virus therapy and immunotherapy for glioblastoma.

E. Harvey Estes Jr.

E. Harvey Estes Jr. (1925–2025) was an American cardiologist at Duke University who chaired its Department of Community Health Sciences and built the physician assistant profession's curriculum, certification, and legal footing.

E. John Gallagher

E. John Gallagher is an emergency physician and Professor Emeritus at Albert Einstein College of Medicine. He founded the department and oversaw over 500,000 annual emergency visits.

E3N study

E3N (Étude Épidémiologique auprès de femmes de la MGEN) is a French prospective cohort of 98,995 women born 1925–1950, followed since 1990; French component of EPIC, studying lifestyle, diet, environment, and women's health, with the E3N-Générations family extension.

EAGeR trial

EAGeR (Effects of Aspirin in Gestation and Reproduction) trial: NICHD-funded randomized trial of preconception 81 mg aspirin in 1,228 women with 1-2 prior pregnancy losses; no overall live birth benefit, subgroup benefit in single recent loss.

Eagle syndrome

Eagle syndrome, also called stylohyoid syndrome, is a neurovascular compression syndrome in which an elongated styloid process or calcified ligament causes face, throat, and neck pain.

EAGLES trial

EAGLES (Evaluating Adverse Events in a Global Smoking Cessation Study), NCT01456936: 8,144-participant Pfizer/GSK phase 4 trial showing varenicline and bupropion carry no significant neuropsychiatric risk versus patch or placebo, leading the FDA to remove its boxed warning in 2016.

Eales disease

Eales disease, first described by Henry Eales in 1880, is an idiopathic occlusive retinal perivasculitis of young men causing neovascularization and recurrent vitreous hemorrhage, linked to tuberculosis, treated with steroids, laser, and vitrectomy.

Ear Acupuncture

Ear acupuncture (auricular acupuncture, auriculotherapy): stimulation of specific outer-ear points based on a body map, systematized by Paul Nogier in 1957; studied mainly for pain and addiction, including the NADA protocol.

Ear canal

Ear canal (external auditory canal, external acoustic meatus): the tube from the outer ear opening to the eardrum. Resonates at 2–4 kHz, forms from a meatal plug canalizing at 28–32 weeks, prone to exostoses in cold-water surfers.

Ear candling

Ear candling, also called ear coning or thermo-auricular therapy, is an alternative practice of burning a hollow candle in the ear canal to remove earwax; testing shows no suction, no wax removal, and burn and perforation risks, and guidelines recommend against it.

Ear Protective Devices

Ear protective devices (hearing protection devices, HPDs): earplugs, earmuffs, and canal caps that reduce sound reaching the eardrum. Rated by NRR; real-world attenuation verified by fit testing (PAR); NIOSH recommends quantitative fit testing since 2025.

Ear-EEG

Ear-EEG is a wearable EEG method that records brain activity from electrodes placed in or around the ear canal, enabling unobtrusive long-term monitoring of sleep, auditory responses, and brain state.

Ear-lobe keloid

Ear-lobe keloid (ICD-11 EE60.00): benign fibrous scar overgrowth on the earlobe, usually after piercing. Shiny globular growths; excision alone recurs 50-100%, so steroids, pressure, or radiotherapy are added.

Ear-patella-short stature syndrome

Ear-patella-short stature syndrome, or Meier-Gorlin syndrome (MGORS), is a rare microcephalic primordial dwarfism with microtia, absent or small patellae, and short stature, caused by variants in 13 DNA replication genes including ORC1, CDT1, and CDC45.