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http://dx.doi.org/10.1017/S0022215125103447 | DOI Listing |
Front Pediatr
August 2025
Pediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, Russia.
Background: Acid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with distinct pathogenesis and clinical course. To our knowledge, the coexistence of these two conditions has not been previously reported.
View Article and Find Full Text PDFCureus
August 2025
Department of Cardiology, Pulmonology, Hypertension, and Nephrology, Ehime University Graduate School of Medicine, Toon, JPN.
Objectives In Japan, clinical diagnosis based solely on symptoms, without the use of test kits, has been adopted to enable the rapid identification of individuals infected with coronavirus disease 2019 (COVID-19). A history of close contact with COVID-19 patients is a prerequisite for such symptom-based diagnosis. However, the current diagnostic criteria lack objectivity.
View Article and Find Full Text PDFNat Commun
September 2025
Department of Gastroenterology and Hepatology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka-shi, Tokyo, Japan.
The maternal microbiome during pregnancy and the peripartum period plays a critical role in maternal health outcomes and establishing the neonatal gut microbiome, with long-term implications for offspring health. However, a healthy microbiome during these key periods has not been definitively characterized. This longitudinal study examines maternal and neonatal microbiomes using 16S rRNA amplicon sequencing in a Japanese cohort throughout pregnancy and the postpartum period.
View Article and Find Full Text PDFSurgeon
September 2025
Department of Surgery, Hanyu General Hospital, Hanyushi, Saitama, 348-8505, Japan.
Background: Appendicectomy is a well-established surgical procedure used for managing of acute appendicitis. In open appendicectomy, McBurney's point is the surgical landmark for locating the appendix, and it is common practice to make an incision there. However, in this study, we identified the root of the appendix via computed tomography, made an incision around that sites, and performed the appendicectomy through this incision.
View Article and Find Full Text PDFZhonghua Jie He He Hu Xi Za Zhi
September 2025
Neuromuscular diseases are often accompanied by various types of sleep-related breathing disorders, which can exacerbate the underlying condition and are associated with a poor prognosis. Early identification is essential, and interventions such as non-invasive ventilation, oxygen therapy, and respiratory rehabilitation should be initiated promptly to mitigate disease progression and improve outcomes. Nevertheless, the rates of missed and misdiagnosed cases remain common in clinical practice.
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