Results 41 to 50 of about 4,034 (148)
Background: Few studies have investigated the incidence of PSP and CBS in the population. Objective: To examine the incidence of and trends in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) in a population-based cohort of residents ...
Cole D. Stang +9 more
doaj +1 more source
Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones.
Pei Jin Lim +7 more
doaj +1 more source
Olmsted Syndrome: A Case Report of Two Brothers
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati +3 more
doaj +1 more source
Transient receptor potential vanilloid 3 (TRPV3) is a member of the TRP (Transient Receptor Potential) super-family. It is a relatively underexplored member of the thermo-TRP sub-family (Figure 1), however, genetic mutations and use of gene knock-outs ...
Lisa M. Broad +5 more
doaj +1 more source
Olmsted Syndrome—Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma
Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar keratoderma, periorificial keratotic plaques, and other variable features.
Yves Poulin +3 more
core +1 more source
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]
IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Nitschké, Patrick +7 more
core +1 more source
Pre-hospital use of inhaled corticosteroids and inhaled beta agonists and incidence of ARDS: A population-based study [PDF]
Objective. Inhaled corticosteroids and inhaled beta agonists were shown to decrease the lung injury in animal models. We investigated the association of pre-hospital use of inhaled corticosteroids and inhaled beta agonists with the incidence of Acute ...
Asif Muhammad Mangi +5 more
doaj +1 more source
Abnormal amyloid PET usually represents intermediate/high Alzheimer's disease neuropathologic change
Abstract INTRODUCTION Alzheimer's disease neuropathologic change (ADNC) classification identifies not/low and intermediate/high levels of neuropathology. Our goal was to assess how frequently a positive amyloid positron emission tomography (PET) scan indicates not/low ADNC and whether this autopsy finding can occur >10 years after a positive amyloid ...
Brian J. Burkett +16 more
wiley +1 more source
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) represent a unique clinical syndrome affecting up to 80% of PSC patients, characterised by distinct epidemiological patterns, pathophysiological mechanisms and clinical outcomes that differ substantially from either condition occurring independently ...
Luisa Bertin +7 more
wiley +1 more source
Fetal demise and Wernicke–Korsakoff syndrome in a patient with hyperemesis gravidarum: a case report
BACKGROUND: Wernicke–Korsakoff syndrome is a neuropsychiatric disorder caused by thiamine deficiency composed of two related disorders accounting for an acute presentation and chronic progression. Hyperemesis gravidarum presents a significant risk factor
Olmsted, Alisa +7 more
core +1 more source

