A 49-year-old woman was found to have emphysema associated with alpha 1-antitrypsin deficiency in February 1975. She was followed until her death in October, 1994. The Pi phenotype was M null and the genotype was M malton. She had been on home oxygen therapy since 1987. An autopsy revealed the typical bullous lungs with panacinar emphysema. We know of no previous case in Japan of emphysema associated with alpha 1-antitrypsin deficiency.
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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 PDFBackground: Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare interstitial lung disease primarily affecting young to middle-aged smokers. While traditionally linked to tobacco use, there is growing evidence that cannabis use may contribute to PLCH.
Methods: We present a case of a 52-year-old male with PLCH associated with heavy cannabis use.
PLoS Genet
January 2025
Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Australia.
Adaptation to existence outside the womb is a key event in the life of a mammal. The absence of macrophages in rats with a homozygous mutation in the colony-stimulating factor 1 receptor (Csf1r) gene (Csf1rko) severely compromises pre-weaning somatic growth and maturation of organ function. Transfer of wild-type bone marrow cells (BMT) at weaning rescues tissue macrophage populations permitting normal development and long-term survival.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Clinic of Radiology EOC, Istituto Imaging della Svizzera Italiana (IIMSI), Via Tesserete 46, 6900 Lugano, CH, Switzerland.
Lung cancer, the second most common malignancy in both men and women, poses a significant health burden. Early diagnosis remains pivotal in reducing lung cancer mortality. Given the escalating number of computed tomography (CT) examinations in both outpatient and inpatient settings, radiologists play a crucial role in identifying early-stage pulmonary cancers, particularly non-nodular cancers.
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