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http://dx.doi.org/10.1097/WNO.0000000000001662 | 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 PDFAnn Bot
September 2025
National Museum, Prague, Czech Republic.
Background And Aims: Hornworts are rarely found in the fossil record, so each new find provides important insights regarding their evolution and diversity. Here we revisit a controversial genus, Notothylacites, described from the Late Cretaceous of Central Europe, which has liverwort morphology, but bears hornwort spores.
Methods: The fossil material was originally studied in 1970 by Pacltová using pollen preparation techniques.
Mar Life Sci Technol
August 2025
State Key Laboratory of Marine Environmental Science and College of Ocean and Earth Sciences, Xiamen University, Xiamen, 361005 China.
Unlabelled: Anaerobic ammonium oxidation (anammox) plays a critical role in nitrogen loss in estuarine and marine environments. However, the mechanisms underlying the formation and maintenance of the anammox bacterial community remain unclear. This study analyzed the anammox bacterial diversity, community structure, and interspecific relationships in three estuaries along the Chinese coastline -the Changjiang Estuary (CJE), the Oujiang Estuary (OJE), and the Jiulong River Estuary (JLE) - as well as the South China Sea (SCS) to elucidate their community assembly mechanisms.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
September 2025
Department of Endocrinology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China.
Empty sella (ES) involves herniation of the pituitary fossa, leading to pituitary flattening. While typically associated with central hypothyroidism, its co-occurrence with hyperthyroidism is rarely reported and often overlooked. We report a rare case of hyperthyroidism in a patient with ES.
View Article and Find Full Text PDFBMJ Case Rep
September 2025
Department of Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Community of Madrid, Spain.
Uveitis is a significant cause of visual impairment and is often linked to underlying systemic immune-mediated conditions. Retroperitoneal fibrosis, characterised by the proliferation of fibrotic tissue in the retroperitoneum, can similarly be associated with autoimmune or autoinflammatory diseases. While both conditions have been reported in the context of systemic disorders, their co-occurrence in the absence of a defined systemic diagnosis is exceedingly rare, with only two such cases previously documented.
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