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Stem Cell Res
January 2025
The University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India; Eyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, India. Electronic address:
Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors.
View Article and Find Full Text PDFBMJ Nutr Prev Health
November 2024
Centre for Global Child Health, The Hospital for Sick Children, Toronto, Ontario, Canada.
Background: The effects of multiple early adverse psychosocial and biological factors on child development at preschool age in deprived settings are not fully understood.
Methods: The 'Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development' (MAL-ED) project followed children from eight countries, recording sociodemographic, nutritional, illness, enteroinfection biomarkers and scores for quality of home environment (Home Observation for Measurement of the Environment (HOME)), development (Bayley) and maternal depression during the first year of life. In the Pakistan cohort, we investigated associations of these early factors with Z-scores (derived from the eight participating countries) of three developmental outcomes at 5 years: Executive Functions (Z-EF), the Wechsler Preschool and Primary Scale for Intelligence (Z-WPPSI) and the externalising behaviours component of the Strength and Difficulties test (Z-externalising behaviours).
Chest
January 2025
Division of Respirology, Critical Care and Sleep Medicine, Department of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.
Alpha-1-Antitrypsin (A1AT) deficiency is a common hereditary disorder associated with increased risk of developing chronic obstructive pulmonary disease (COPD). Many individuals with severe A1AT deficiency go undiagnosed, or are diagnosed late, and fail to benefit from disease-specific counseling and modifying care. Since the 2012 Canadian Thoracic Society (CTS) A1AT deficiency clinical practice guideline, new approaches to optimal diagnosis using modern genetic testing and studies of A1AT augmentation therapy have been published.
View Article and Find Full Text PDFRationale: Individuals homozygous for the Alpha-1 Antitrypsin (AAT) Z allele (Pi*ZZ) exhibit heterogeneity in COPD risk. COPD occurrence in non-smokers with AAT deficiency (AATD) suggests inflammatory processes may contribute to COPD risk independently of smoking. We hypothesized that inflammatory protein biomarkers in non-AATD COPD are associated with moderate-to-severe COPD in AATD individuals, after accounting for clinical factors.
View Article and Find Full Text PDFBiomolecules
January 2025
Department of Pharmaceutics, College of Pharmacy, University of Florida, Gainesville, FL 32610, USA.
Endosomal toll-like receptors (TLRs) TLR7, TLR8, and TLR9 play an important role in systemic lupus erythematosus (SLE) pathogenesis. The proteolytic processing of these receptors in the endolysosome is required for signaling in response to DNA and single-stranded RNA, respectively. Targeting this proteolytic processing may represent a novel strategy to inhibit TLR-mediated pathogenesis.
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