Results 61 to 70 of about 4,034 (148)

Parkinson's Disease: The Epidemiology, Risk Factors, Molecular Pathogenesis, Prevention, and Therapy

open access: yesMedComm, Volume 6, Issue 12, December 2025.
This graphical abstract summarizes the major components of this review on Parkinson's disease, including epidemiological trends, risk factor classification, peripheral and molecular pathogenesis, and both preventive and therapeutic strategies. The framework reflects the multidimensional organization of the text, covering disease burden, mechanistic ...
Xue‐Yao Guo   +5 more
wiley   +1 more source

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

open access: yes, 2012
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome
McGrath, J A   +5 more
core   +1 more source

Substantia Nigra Iron Deposition in Lewy Body Disease: A Magnetic Resonance Imaging and Neuropathology Study

open access: yesMovement Disorders, Volume 40, Issue 10, Page 2129-2138, October 2025.
Abstract Objective To compare iron deposition in the substantia nigra (SN) as measured with quantitative susceptibility mapping (QSM) on antemortem magnetic resonance imaging (MRI) between individuals with and without Lewy‐related pathology at autopsy. Methods We performed a retrospective cohort study including 54 participants who underwent autopsy and
Patricia Diaz‐Galvan   +28 more
wiley   +1 more source

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

open access: yes, 2014
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by palmoplantar keratoderma, periorificial hyperkeratotic lesions and alopecia. Constriction of digits, onychodystrophy and pruritus may also occur.
McGrath, J A   +4 more
core   +1 more source

Long‐Term Outcomes in Patients With Turner Syndrome: A 68‐Year Follow‐Up

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Turner syndrome (TS) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. We describe long‐term outcomes in a large cohort of patients with TS.
Margaret M. Fuchs   +4 more
doaj   +1 more source

Clinically meaningful changes in cognitive and functional outcomes in a population‐based study of cognitive aging

open access: yesAlzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 11, Issue 3, July-September 2025.
Abstract INTRODUCTION Research is limited regarding meaningful change thresholds for individual patients on clinical outcome assessments (COAs) frequently used in clinical trials for Alzheimer's disease and related dementias (ADRD), particularly in population‐based studies early in the disease course.
Jeremiah A. Aakre   +8 more
wiley   +1 more source

Associations between temporal lobe cortical NODDI measures and memory function in individuals without clinical dementia

open access: yesAlzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract INTRODUCTION Temporal cortical microstructural changes precede cortical atrophy during memory decline. We used neurite orientation dispersion and density imaging (NODDI) to assess such early microstructural change. METHODS Cognitively unimpaired (CU, n = 725) and mildly cognitively impaired (MCI, n = 111) participants from the Mayo Clinic ...
Jay J. Pillai   +9 more
wiley   +1 more source

Do published guidelines for evaluation of Irritable Bowel Syndrome reflect practice?

open access: yesBMC Gastroenterology, 2001
Background The only US guidelines listed in the National Guideline Warehouse for the diagnosis of Irritable Bowel Syndrome (IBS) are the expert opinion guidelines published by The American Gastroenterology Association. Although the listed target audience
Bertram Susan L   +5 more
doaj   +1 more source

Olmsted syndrome: report of a new case

open access: yesBritish Journal of Dermatology, 1997
Summary We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of ...
J, Frias-Iniesta   +3 more
openaire   +2 more sources

Hypertensive disorders of pregnancy and neuroimaging markers of dementia risk: A pilot study

open access: yesPregnancy, Volume 1, Issue 3, May 2025.
Abstract Background and Objectives Hypertensive disorders of pregnancy (HDP) are associated with a long‐term risk of maternal cognitive decline. Limited data exist regarding maternal brain structure in midlife after HDP. We examined the association between prior HDP and neuroimaging markers associated with microvascular brain injury, detected on high ...
Mohamad J. Alshikho   +22 more
wiley   +1 more source

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