Results 61 to 70 of about 295,134 (281)

Vestibular function tests are helpful in differentiating between Menière’s disease and vestibular migraine

open access: yesFrontiers in Neurology
AimMenière’s disease (MD) presents with episodic vertigo and auditory symptoms. Vestibular migraine (VM) typically contains migraine features associated with the vertigo attacks.
Eleonora G. M. Vosbeek   +10 more
doaj   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Dizziness [PDF]

open access: yesPostgraduate Medical Journal, 1966
J H, Evans, A, Trimm
openaire   +4 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

An Approach to Dizziness [PDF]

open access: yes, 1976
Dizziness is a vague and ubiquitous symptom which frequently frustrates and perplexes the clinician. Dizziness in the broad sense implies any unpleasant sensation of disturbed relationship to surrounding objects.
Grindal, Alan B.
core   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Altered Regional Cerebral Blood Perfusion in Mild Cognitive Impairment Patients with Dizziness

open access: yesDiagnostics, 2020
Dizziness is a common symptom among the general population, especially in the elderly. Previous studies have reported that dizziness may be associated with various cognitive functions including memory impairment.
Seunghee Na   +6 more
doaj   +1 more source

Increased risk of vascular events in emergency room patients discharged home with diagnosis of dizziness or vertigo: a 3-year follow-up study. [PDF]

open access: yesPLoS ONE, 2012
BACKGROUND: Dizziness and vertigo symptoms are commonly seen in emergency room (ER). However, these patients are often discharged without a definite diagnosis.
Ching-Chih Lee   +8 more
doaj   +1 more source

Metformin enhances external urethral sphincter integrity and restores continence via AMPK activation in a rat model of stress urinary incontinence

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu   +7 more
wiley   +1 more source

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