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Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFUnicoronal synostosis is a rare condition leading to anterior plagiocephaly with facial scoliosis and deformation of the anterior cranial fossa. Fronto-orbital advancement and remodelling (FOAR) is the standard of care for management, aiming to normalise the brow shape and position while ameliorating the risk of raised intracranial pressure (ICP) throughout childhood. Published long-term surgical outcome data for unicoronal synostosis is lacking.
View Article and Find Full Text PDFCharacteristics and Associated Risk Factors of Neonatal Sepsis: A Retrospective Study From Saudi Arabia.
Cureus
December 2024
Pharmacology, Ministry of National Guard, AlAhsa, SAU.
Introduction Neonatal sepsis is defined as a systemic illness caused by bacteria, viruses, or fungi, characterized by hemodynamic abnormalities and clinical findings that result in morbidity and mortality. Neonatal morbidity and mortality are significantly influenced by neonatal sepsis. Causative pathogens and antimicrobial sensitivity profiles have changed over time, with significant geographic variation.
View Article and Find Full Text PDFDevonian-Mississippian magmatism related to extensional collapse in Svalbard: implications for radiating dyke swarms.
Open Res Eur
December 2024
Geosciences, Universitetet i Oslo Institutt for geofag, Oslo, Oslo, 0371, Norway.
Background: Despite extensive studies of the Mesozoic-Cenozoic magmatic history of Svalbard, little has been done on the Paleozoic magmatism due to fewer available outcrops.
Methods: 2D seismic reflection data were used to study magmatic intrusions in the subsurface of eastern Svalbard.
Results: This work presents seismic evidence for west-dipping, Middle Devonian-Mississippian sills in eastern Spitsbergen, Svalbard.
Transposition of great arteries (TGA) is a critical congenital heart disease leading to a fatal outcome if timely management is not provided. Management in low-income countries is challenging. A retrospective analysis was carried out at Sudan Heart Center for infants with TGA who underwent balloon atrial septostomy (BAS) from January 2010 to December 2020.
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