We report a patient with known asymptomatic pulmonary alveolar proteinosis (PAP) who developed a cerebellar gait disorder and dysarthria caused by an isolated cerebellar nocardial abscess. To our knowledge only 1 patient with PAP and isolated central nervous system nocardia infection has previously been reported. In this early report, diagnosis was established at autopsy. In our patient the clinical and MRI examinations of this cerebellar abscess are described and specific features leading to earlier diagnosis and successful treatment are presented.
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http://dx.doi.org/10.1111/j.1600-0404.1998.tb00623.x | DOI Listing |
Clin Kidney J
January 2025
Transplantation and Liver Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder that leads to dysfunctional intestinal absorption and kidney clearance of cationic amino acids. Chronic kidney disease develops in many LPI patients and leads to end-stage kidney disease in at least 10% of patients. Since data on kidney transplants in LPI patients are limited, we analysed the outcomes of LPI patients after transplantation in Finland.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
View Article and Find Full Text PDFRespir Investig
January 2025
Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Sargramostim, a recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) inhalation therapy, was recently approved for pharmaceutical use in Japan and shows promise as a treatment for autoimmune pulmonary alveolar proteinosis (APAP). For APAP patients with severe respiratory failure due to advanced lung fibrosis, lung transplantation is also a treatment option; however, APAP may recur after the procedure. Here, we report a case of successful sargramostim inhalation therapy for post-transplant APAP relapse in a patient who underwent living lung transplantation owing to severe fibrosis.
View Article and Find Full Text PDFNat Genet
January 2025
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Aberrant immune responses to viral pathogens contribute to pathogenesis, but our understanding of pathological immune responses caused by viruses within the human virome, especially at a population scale, remains limited. We analyzed whole-genome sequencing datasets of 6,321 Japanese individuals, including patients with autoimmune diseases (psoriasis vulgaris, rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), pulmonary alveolar proteinosis (PAP) or multiple sclerosis) and coronavirus disease 2019 (COVID-19), or healthy controls. We systematically quantified two constituents of the blood DNA virome, endogenous HHV-6 (eHHV-6) and anellovirus.
View Article and Find Full Text PDFCureus
November 2024
Department of Respiratory Medicine and Clinical Immunology, Nippon Life Hospital, Osaka, JPN.
Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the accumulation of surfactants in the alveoli. It has been suggested that immunosuppressants contribute to the development and exacerbation of PAP. Here, we report the case of a 73-year-old man who developed secondary PAP after intensive immunosuppressive treatment for acute exacerbation of interstitial pneumonia (IP).
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