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Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency.
Front Pediatr
January 2025
Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a continuum of severity, making it challenging to predict the phenotype in very young children and differentiate between acute and chronic neurovisceral disease. No disease-specific treatments existed for ASMD.
View Article and Find Full Text PDFSelf-limited cutaneous Langerhans Cell Histiocytosis: A case report.
Rev Esp Patol
January 2025
Anatomical Pathology Department, Hospital General Universitario de Castellón, Castellón, Spain.
Blueberry muffin baby syndrome is a condition initially described in 1960 to classify the cutaneous manifestations of newborns with rubella. Subsequently, congenital diseases related to TORCH syndrome and blood dyscrasias have been included under this syndrome. Among the conditions associated with this syndrome is Langerhans Cell Histiocytosis, an uncommon condition with variable involvement of one or more organs, often affecting the skin.
View Article and Find Full Text PDFPrevalence of asymptomatic Leishmania donovani infection and associated factors in Ethiopia: a systematic review and meta-analysis.
BMC Infect Dis
January 2025
Aklilu Lemma Institute of Pathobiology, Addis Ababa University, Addis Ababa, Ethiopia.
Background: Visceral leishmaniasis is endemic in Ethiopia and caused by Leishmania donovani. Although the disease manifests with significant clinical variability, a substantial number of individuals are asymptomatic. These individuals can serve as reservoirs, complicating control efforts.
View Article and Find Full Text PDFPeritonitis following duodenal injury due to seatbelt trauma: A case manifesting immediately post-surgery for thoracolumbar fracture-dislocation.
Int J Surg Case Rep
January 2025
Department of Orthopedic Surgery, Naha City Hospital, Okinawa, Japan.
Introduction: Although abdominal organ damage due to motor vehicle accident is often evident immediately after the injury and urgent operation is performed, it has been reported that minor injuries such as hollow viscus may become apparent during the course of treatment and require urgent surgery.
Case Report: The Authors present the case of a 42-year-old female who developed peritonitis immediately after undergoing surgery for thoracolumbar fracture-dislocation caused by a traffic accident. The patient exhibited no abdominal symptoms, such as nausea, vomiting, or abdominal wall rigidity, and had no difficulty with oral intake preoperatively.
Skeletal and Adipose Manifestations of Stress in a Contemporary Pediatric Sample.
Am J Biol Anthropol
January 2025
School of Anthropology and Archaeology, The Australian National University, Canberra, Australian Capital Territory, Australia.
Introduction: Adverse experiences leading to physiological disruptions (stress) in early life produce cascade effects on various biological systems, including the endocrine and metabolic systems, which, in turn, shape the developing skeletal system. To evaluate the effects of stress on adipose and skeletal tissues, we examine the relationship between skeletal indicators of stress (porotic hyperostosis [PH] and cribra orbitalia [CO]), bone mineral density (BMD), vertebral neural canal (VNC) diameters, and adipose tissue distribution in a contemporary pediatric autopsy sample.
Methods: Data is from 702 (409 males, 293 females) individuals from a pediatric (0.
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