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Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.
Endocr J
January 2025
Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan.
The use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities. We report the case of a 41-year-old woman with a history of Graves' disease, who presented with progressive joint pain and severe fatigue. Despite the absence of bone lesions, the patient was diagnosed with HPP based on persistently low alkaline phosphatase levels, family history, and a novel heterozygous ALPL variant (p.
View Article and Find Full Text PDFRiga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFCharacteristics and multi-omics analysis of spontaneous spondyloarthritis in non-human primates: Case report.
Heliyon
January 2025
Guangdong Provincial Biotechnology Research Institute (Guangdong Provincial Laboratory Animals Monitoring Center), Guangzhou, Guangdong, 510663, China.
Spondyloarthritis is a prevalent and persistent condition that significantly impacts the quality of life. Its intricate pathological mechanisms have led to a scarcity of animal models capable of replicating the disease progression in humans, making it a prominent area of research interest in the field. To delve into the pathological and physiological traits of spontaneous non-human primate spondyloarthritis, this study meticulously examined the disease features of this natural disease model through an array of techniques including X-ray imaging, MRI imaging, blood biochemistry, markers of bone metabolism, transcriptomics, proteomics, and metabolomics.
View Article and Find Full Text PDFEffects of tributyltin on placental and reproductive abnormalities in offspring.
Arch Endocrinol Metab
January 2025
Universidade Federal do Espírito Santo Departamento de Morfologia VitóriaES Brasil Departamento de Morfologia, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
Tributyltin (TBT) is an organotin compound and a common persistent environmental pollutant with endocrine-disrupting chemical (EDC) actions. It can accumulate in the environment at various concentrations throughout the food chain in the ecosystem, posing a risk to human health, especially during critical periods such as gestation and fetal and offspring development. In this review, we report the results of studies describing the consequences of TBT exposure on placental and reproductive parameters in offspring of both sexes.
View Article and Find Full Text PDFAvascular necrosis in pediatric rheumatic diseases: an Italian retrospective multicentre study.
Ital J Pediatr
January 2025
Pediatric Immuno-Rheumatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Background: Atraumatic avascular necrosis (AVN) is a severe condition that may complicate the course of rheumatic diseases and contribute to long-term damage. However, there is a lack of evidence on this rare event in pediatric rheumatology. The aim of our study was to evaluate the occurrence of avascular necrosis in the context of rheumatologic diseases in Italy and to describe the main demographic and clinical features of AVN patients, with a particular focus on treatment background.
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