Le Diko - en:early death from infection may occur

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Le Diko - en:early death from infection may occur

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:early death from infection may occur

Nom

Informations lexicales

Langue:anglais

Associations d'idées

50+

en:age:time:pt:^egg donor:qn

•

en:short survival (less than 10 years after onset)

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en:prevalence estimated at 1 in 50,000

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en:prevalent among the amish

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en:congenital abnormality

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en:slight male predominance (3:2)

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en:subtype 3a comprises myoclonus and dementia

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en:variable age at onset, first to second decades

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en:six patients have been reported (as of october 2011)

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en:precipitated by fever

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en:poor response to l-dopa

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en:precipitated by general anesthesia

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en:possible x-linked dominant inheritance

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en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)

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en:symptoms precipitated by stress, exertion, fatigue, alcohol

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en:subset of patients have leigh syndrome (256000)

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en:variable age at onset (late childhood to adult)

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en:small placenta

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en:some patients may lose independent ambulation

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en:variable age of onset (7-59 years)

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en:some patients show a favorable response to sulfonylurea treatment

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en:presence of additional features is variable

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en:precipitated by fatigue or alcohol

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en:skeletal and facial features are variable

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en:severe ambulatory restriction

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infection ▷

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en:recurrent bacterial infection

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en:some patients never gain ambulation or become wheelchair-bound

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en:virtually all patients with this condition are female

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en:sensorineural hearing loss may be presenting feature

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en:some patients may show a favorable response to oral coenzyme q10 supplementation

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en:visual impairment is present at birth and is progressive

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en:variable phenotype, particularly with regard to cortical malformations

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en:early ▷?

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en:multiple prenatal fractures

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en:syncope ▷?

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en:hearing loss affects all frequencies

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en:premature aging syndrome

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anomalie congénitale

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en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

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en:some patients with advanced loss of vision have normal eog

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en:two unrelated families have been reported (last curated may 2013)

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en:variable features present

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en:some patients may present with myopathic features

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en:some patients have resolution of symptoms in first year of life

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en:prevalence of true hypoprothrombinemia is 1 in 2 million

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en:sudden death within first days of life

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en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

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en:phenotypic variation (may affect language expression, reception, and/or articulation)

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en:prelingual onset

▶

50+

anomalie congénitale

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en:congenital abnormality

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malformation congénitale

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en:congenital anomaly

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en:congenital defect

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déformation congénitale

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déficience congénitale

•

maladie congénitale

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difformité congénitale

•

pathologie congénitale

•

septicémie du nouveau-né

•

septicémie néonatale

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en:neonatal sepsis

•

•

douleur dans une articulation

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algie articulaire

•

•

douleur articulaire

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en:congenital malformation

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mort néonatale

•

mort du nouveau-né

•

en:neonatal death

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en:birth defect

•

•

tare congénitale

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en:broad-based gait

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vice de conformation

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élargissement du polygone de sustentation

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en:wide-based gait

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en:physical defect

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en:major physical defect

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létal

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en:juvenile onset 4 years to puberty

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rétinite pigmentaire d'apparition tardive

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en:inheritance pattern is unclear

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en:late-onset, slowly progressing form of retinitis pigmentosa

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en:incidence - 1/16,000 live births

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en:recurrent bacterial infection

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en:hyperlipidemia may be partially responsive to fat-restricted diet

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en:may not be clinically manifest until middle life

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en:opportunistic infection

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en:syncope ▷?

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en:usually symptomatic in adulthood with history of weakness since infancy or childhood

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en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

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en:increased male to female ratio (7.5:1)

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en:incidence of 1 in 3,500 boys

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en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

•

en:interfamilial and intrafamilial clinical heterogeneity

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en:eye involvement begins at birth, neurologic involvement begins later

▶

en:early ▷?

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6943145 • caches: c1=8 c2=98 c3=772

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