Results 41 to 50 of about 124,197,172 (205)
Arthritis Care &Research, EarlyView.Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada +7 more
wiley +1 more source
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review
Orphanet Journal of Rare DiseasesBackground Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti +2 more
doaj +1 more source
Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective
Pulmonary Therapy, 2020 This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj +1 more source
Journal of Pediatric Gastroenterology and Nutrition, EarlyView.Abstract Objectives Immune dysregulation in paediatric portal hypertension (PHT) is poorly understood. We aimed to characterise T cell phenotype and function and circulating immune mediators in children with PHT according to disease aetiology. Methods Forty‐four children with PHT (27 chronic liver disease [CLD]‐related and 17 portal vein thrombosis ...
Tengfei Si +11 more
wiley +1 more source
Pregnancy and alpha-1 antitrypsin deficiency [PDF]
Postgraduate Medical Journal, 1987 Summary A 29 year old patient with alpha-1 antitrypsin deficiency and bullous emphysema became pregnant against the advice of her physicians. Despite a mid-trimester pneumothorax requiring the insertion of a chest tube, she went on to deliver a healthy child under epidural anaesthesia using a midforceps technique. Vaginal delivery is not
openaire +2 more sources
The Brazilian Alagille syndrome study: New insights from a multicenter national cohort
JPGN Reports, EarlyView.Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho +34 more
wiley +1 more source
Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies [PDF]
, 2004 Alpha-1-antitrypsin (alpha(1)-antitrypsin) is the archetypal member of the serine proteinase inhibitor or serpin superfamily. The most common severe deficiency variant is the Z allele, which results in the accumulation of mutant protein within ...
David A. Lomas +10 more
core +1 more source
Multi‐segment intussusception in infant with suspected celiac crisis: A case report
JPGN Reports, EarlyView.Abstract Celiac crisis (CC) is a rare, life‐threatening manifestation of often undiagnosed or inadequately treated celiac disease (CeD). In infants with nonclassical presentations of CeD, timely diagnosis can be challenging but critical to reducing end‐organ damage and serious complications, such as CC.
Shambhawi Thakur +4 more
wiley +1 more source
JPGN Reports, EarlyView.Abstract Drug‐induced vanishing bile duct syndrome (VBDS) is a rare complication of severe cholestatic hepatitis characterized by progressive ductopenia despite withdrawal of the offending agent. Prognosis ranges from gradual recovery to liver failure requiring transplantation. We report the first known pediatric case of biopsy‐confirmed VBDS following
Kathryn Kaihlanen +5 more
wiley +1 more source
Allergy, EarlyView.ABSTRACT Among bacteria that are associated with the development and/or exacerbation of allergic/atopic diseases, several have been described to produce IgE‐binding components. However, only one bacterial protein, Bac s 1, is currently listed in the official database of the World Health Organization/International Union of Immunological Societies (WHO ...
Uta Jappe +24 more
wiley +1 more source