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http://dx.doi.org/10.1016/j.pcl.2016.10.002 | DOI Listing |
Medicina (Kaunas)
January 2025
Department of Health Science, University of Eastern Piedmont, 28100 Novara, Italy.
Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.
View Article and Find Full Text PDFOsteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
View Article and Find Full Text PDFAm J Respir Crit Care Med
January 2025
AstraZeneca, BioPharmaceuticals R&D, Gaithersburg, Maryland, United States.
Data Brief
February 2025
Department of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, Indonesia.
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.
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