Results 21 to 30 of about 123,204 (125)

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

open access: yesDevelopmental Medicine &Child Neurology, Volume 63, Issue 9, Page 1066-1074, September 2021., 2021
Aim To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland. Method A longitudinal population‐based cohort study was conducted in the tertiary catchment area of Oulu University Hospital from 1990 to 2019.
Oula A Knuutinen   +9 more
wiley   +1 more source

Neurocutaneous syndromes in art and antiquities

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 187, Issue 2, Page 224-234, June 2021., 2021
Abstract Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye with congenital abnormalities and/or tumors. Manifestations may also involve the heart, vessels, lungs, kidneys, endocrine glands and bones.
Martino Ruggieri   +8 more
wiley   +1 more source

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020 [PDF]

open access: yes, 2021
Funding Information: We thank the people with CF, and their families, for consenting to their data being included in the ECFSPR. We thank the centers and individual country representatives for allowing the use of the anonymized patient data.
European Cystic Fibrosis COVID project group   +2 more
core   +1 more source

Non-invasive ventilation and clinical outcomes in cystic fibrosis: Findings from the UK CF registry [PDF]

open access: yes, 2018
Background: Non-invasive ventilation (NIV) for respiratory failure and airway clearance is an established intervention in cystic fibrosis (CF), but its therapeutic benefit on lung function and survival remains under-investigated. Methods: Using data from
Bilton, D   +5 more
core   +1 more source

Skeletal Angiomatosis in Association with Gastro-Intestinal Angiodysplasia and Paraproteinemia: A Case Report

open access: yesJournal of Orthopaedic Surgery, 2002
Skeletal-extraskeletal angiomatosis is defined as a benign vascular proliferation involving the medullary cavity of bone and at least one other type of tissue.
Mark Clayer
doaj   +1 more source

Endoscopic and morphological features of gastroenteroanastomosis in patients with complications after gastrectomy

open access: yesPatologìâ, 2015
Aim. 314 ulcer disease patients with pathology of gastro-enteric anastomosis (GEA) have been examined after intestinal and duodenal resection. Methods and results. Early post gastro resection complications (51 patients): I group – evacuation disorders
O. N. Buriy   +2 more
doaj   +1 more source

How do adults with cystic fibrosis cope following a diagnosis of diabetes? [PDF]

open access: yes, 2008
The official published version of the article can be obtained from the link below.Aim. This paper is a report of a study examining the experience of adults with cystic fibrosis in adapting to the diagnosis of diabetes, a second chronic illness ...
Reynolds, F, Collins, S
core   +1 more source

The changing epidemiology of Burkholderia species infection at an adult cystic fibrosis centre [PDF]

open access: yes, 2008
Background: This study reviews the impact of changing infection control practices at the Manchester Adult Cystic Fibrosis Centre (MACFC) upon the epidemiology of Burkholderia species infections.Methods: We reviewed strain and genomovar typing of all ...
Doherty, Catherine J.   +5 more
core   +1 more source

Using bacterial biomarkers to identify early indicators of cystic fibrosis pulmonary exacerbation onset [PDF]

open access: yes, 2011
Acute periods of pulmonary exacerbation are the single most important cause of morbidity in cystic fibrosis patients, and may be associated with a loss of lung function.
Matt W Johnson   +19 more
core   +1 more source

Absence of a gender gap in survival. An analysis of the Italian registry for cystic fibrosis in the paediatric age.

open access: yes, 2011
BACKGROUND: The existence of gender-related differences since childhood in survival of cystic fibrosis (CF) patients has been recently challenged.
Bossi A   +3 more
core   +1 more source

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