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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 PDFThe associations between risk factors and pituitary neuroendocrine tumors: A bidirectional Mendelian randomization study.
Medicine (Baltimore)
November 2024
The Second Affiliated Hospital of Harbin Medical University, Harbin, People's Republic of China.
The etiological basis of pituitary neuroendocrine tumors is uncertain. We used Mendelian randomization technique to investigate the potential influence of several risk factors on the likelihood of developing pituitary neuroendocrine tumors. We admitted 8 risk factors, divided into 3 lifestyle factors and 5 chronic diseases as exposure factors.
View Article and Find Full Text PDFReconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non-CF Bronchiectasis.
Pediatr Pulmonol
January 2025
Department of Internal Medicine, Division of Pulmonary and Critical Care, University of Virginia, Charlottesville, Virginia, USA.
Introduction: While the diagnosis of cystic fibrosis (CF) is often straightforward and reliant on correlation between genetic testing and clinical signs and symptoms, there is a subset where the distinction is not nearly as clearcut. This has previously been reported in patients identified through newborn screening but not meeting full CF diagnostic criteria, earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID) instead. A homologous diagnostic category in adults is named CF Transmembrane Conductance Regulator-Related Disorder (CFTR-RD).
View Article and Find Full Text PDFReconsidering the usual suspects in age-related hematologic disorders: is stem cell dysfunction a root cause of aging?
Exp Hematol
December 2024
Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany; Experimental Hematology Group, Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany. Electronic address:
Aging exerts a profound impact on the hematopoietic system, leading to increased susceptibility to infections, autoimmune diseases, chronic inflammation, anemia, thrombotic events, and hematologic malignancies. Within the field of experimental hematology, the functional decline of hematopoietic stem cells (HSCs) is often regarded as a primary driver of age-related hematologic conditions. However, aging is clearly a complex multifaceted process involving not only HSCs but also mature blood cells and their interactions with other tissues.
View Article and Find Full Text PDFA 10-Year Single Center Analysis: Is There a Need to Reconsider Our Approach to the Management of Neonatal Testicular Torsion?
Cureus
November 2024
Pediatric Surgery, Royal Hospital for Children, Glasgow, GBR.
The management of neonatal testicular torsion lacks consensus. Arguments in favor of emergency bilateral exploration and fixation include a salvage rate and the incidence of bilateral torsion. We performed a retrospective single-center analysis of all cases of neonatal torsion in our unit between 2012 and 2022 to assess whether our data supports this approach and to publish further data on a disease on which there remains a paucity.
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