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Diagnosing milk aspiration as a cause of death in sudden unexpected infant death: forensic insights from post-mortem analysis impacting criminal investigations.
Forensic Sci Med Pathol
January 2025
Department of Surgical Sciences, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Sudden unexpected infant death (SUID) encompasses both explained and unexplained infant fatalities. When a comprehensive investigation yields inconclusive results, the case is classified as sudden infant death syndrome (SIDS). On the other hand, the most frequent non-SIDS diagnoses may be attributed to specific causes of death including a heterogeneous spectrum of conditions and disorders (e.
View Article and Find Full Text PDFChronic graft-versus-host disease myelitis successfully treated with rituximab.
Int J Hematol
January 2025
Blood Disorders Center, Aiiku Hospital, S4W25, Chuo-ku, Sapporo, 064-0804, Japan.
Chronic graft-versus-host disease (cGVHD) is a major serious complication after allogeneic stem-cell transplantation (allo-HSCT), and often mimics autoimmune diseases. Central nervous system (CNS) symptoms are rare manifestations of cGVHD, and are difficult to diagnose. CNS manifestations of cGVHD were discussed in the 2020 National Institutes of Health cGVHD Consensus Project as one of the "atypical cGVHD manifestations" with involvement of various organ systems other than classical cGVHD organs.
View Article and Find Full Text PDFUnusual Association of Partial Fanconi Syndrome and Tumor-Induced Osteomalacia Revealed by Multiple Vertebral Fractures.
Calcif Tissue Int
January 2025
Division of Bone Diseases, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.
Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome caused by a mesenchymal tumor secreting a phosphaturic hormone called FGF23. Patients present with bone pain, fragility fractures and muscle weakness. Biochemical results show hypophosphatemia, raised serum alkaline phosphatase and reduced calcitriol.
View Article and Find Full Text PDFUltra High-Density Mapping and Ablation of Localized Micro-Reentrant Tachycardias: Insight From the CHARISMA Registry.
J Cardiovasc Electrophysiol
January 2025
Cardiology department, "S. Maria dei Battuti" Hospital, Via Brigata Bisagno, Conegliano (TV), Italy.
Background: Recent advancements in ultra-high-density mapping (UHDM) featuring automated functionalities have enhanced our understanding of micro-reentrant atrial tachycardias (mAT) circuits and the precise localization of the origin.
Purpose: To evaluate the diagnostic support provided by an automated UHDM algorithm in guiding the ablation of mATs.
Methods: Consecutive patients eligible for AT ablation in 22 Italian centers were prospectively enrolled.
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.
Am J Med Genet A
January 2025
Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
SATB2-associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT-rich sequence-binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain. Here, we report the case of a 16-year-old male diagnosed with SAS using exome sequencing and investigate the functional consequences of previously reported SATB2 variants, including those in this case.
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