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Idiopathic Hypereosinophilic Syndrome With Cutaneous Manifestations: A Case Report.
Cureus
December 2024
Internal Medicine, Unidade Local De Saúde De São João, Porto, PRT.
Hypereosinophilic syndrome (HES) is marked by eosinophilic infiltration and the release of inflammatory mediators that cause damage to multiple organs. Despite careful evaluation of hypereosinophilia, the etiology of most cases remains undefined. Eosinophils may cause damage in almost all organs, and most patients present with dermatological manifestations.
View Article and Find Full Text PDFIntroduction Acute poisoning in children is still a global health concern that necessitates visiting the emergency department that might associated with morbidity and mortality. It has an impact on social, economic, and health issues, particularly for children under five who account for the majority of poisonings worldwide. Poisoning can result in mild cases, serious complications, or even death; oral ingestion is the most common way that poisoning occurs in children.
View Article and Find Full Text PDFClinical follow-up of 2 families with glomerulopathy caused by gene variants and literature review.
Front Pediatr
January 2025
Department of Pediatric Nephrology, Children's Hospital of Hebei Province Affiliated to Hebei Medical University, Shijiazhuang, China.
Background: Primary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B () can cause primary CoQ10 deficiency. -related glomerulopathy is a recently recognized glomerular disease that most often presents as steroid-resistant nephrotic syndrome (SRNS) in childhood.
View Article and Find Full Text PDFDental manifestations of hypophosphatasia: translational and clinical advances.
JBMR Plus
February 2025
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.
Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.
View Article and Find Full Text PDFUnusual Cutaneous Manifestations in a Patient with a History of Hepatitis B: A Case of Scleromyxedema and Literature Review.
Clin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Guangzhou Dermatology Hospital, Guangzhou, Guangdong, People's Republic of China.
Scleromyxedema (SM) is a rare primary cutaneous mucinosis characterized by systemic papules and scleroderma-like manifestations, often associated with monoclonal gammopathy. We present the case of a 37-year-old male with SM who developed yellowish plaques on the neck and back over three years. Histopathological examination revealed mucin deposition, fibroblast proliferation, and fibrosis, supporting the diagnosis.
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