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| http://dx.doi.org/10.5144/0256-4947.2006.150 | DOI Listing |
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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFLichen nitidus.
Clin Exp Dermatol
January 2025
Department of Dermatology, Venereology and Leprosy, Sri Manakula Vinayagar Medical College and Hospital, Pondicherry, India.
Lichen nitidus (LN) is a rare inflammatory skin condition characterized by small, shiny, flat-topped papules, commonly affecting children and young adults. Its etiology remains unclear, though immune-mediated pathways are suspected. LN is often asymptomatic, with papules primarily on the trunk, upper limbs, and genitalia.
View Article and Find Full Text PDFPPA2-associated cardiac arrest survivor.
Cardiol Young
January 2025
Royal Belfast Hospital for Sick Children, Belfast, UK.
Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2.
View Article and Find Full Text PDFObstacles to Early Diagnosis of Gaucher Disease.
Ther Clin Risk Manag
January 2025
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy.
View Article and Find Full Text PDFCase report: Successful treatment with spesolimab of acrodermatitis continua of Hallopeau in an older patient without mutations.
Front Immunol
January 2025
Department of Dermatology, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Institue of Psoriasis, Tongji University School of Medicine, Shanghai, China.
Background: Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks.
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