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An unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report.
BMC Pediatr
December 2024
Department of Pediatric and Neonatal Intensive Care, University Children's Hospital, Belgrade, 11000, Serbia.
Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.
Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.
Infant feces-derived FWJL-4 mitigates experimental necrotizing enterocolitis acetate production.
Gut Microbes
December 2024
Department of Neonatology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi School of Medicine, Jiangnan University, Wuxi, China.
Necrotizing enterocolitis (NEC) is a life-threatening disease in premature infants, characterized by high mortality. Recent studies increasingly highlight the role of gut dysbiosis in NEC pathogenesis. Although probiotics have shown some efficacy in preventing NEC, further research is needed to determine potential strains and approaches.
View Article and Find Full Text PDFAsymptomatic pulmonary cusps aneurysm in newborn.
Radiol Case Rep
January 2025
Tam Anh Gerenal Hospital, Hochiminh City, Vietnam.
Article Synopsis
- Pulmonary sinus aneurysm (PSA) is a rare dilation of the pulmonary valve sinus, with very few cases documented in medical literature.
- The condition can be linked to several factors that weaken arterial walls, including pulmonary valve stenosis and connective tissue disorders.
- A recent case presented an asymptomatic neonatal PSA, which was identified through echocardiography as an aneurysm that resembled tumors at the pulmonary root.
Unforeseen severity in a case of neonatal cow milk protein allergy: A case report.
J Pak Med Assoc
November 2024
Department of Paediatrics, Dr. Ziauddin Hospital, Karachi, Pakistan.
Cow milk protein allergy (CMPA) is one of the most common childhood allergies that manifests with a range of digestive symptoms and skin reactions, which usually resolve with age. In this report, we present the case of a one-month-old male who presented with a rare and severe manifestation of neonatal CMPA. The neonate underwent numerous hospital admissions due to a presentation that closely mimicked symptoms of a metabolic disorder and sepsis.
View Article and Find Full Text PDFPharmacogenomic screening identifies and repurposes leucovorin and dyclonine as pro-oligodendrogenic compounds in brain repair.
Nat Commun
November 2024
Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Oligodendrocytes are critical for CNS myelin formation and are involved in preterm-birth brain injury (PBI) and multiple sclerosis (MS), both of which lack effective treatments. We present a pharmacogenomic approach that identifies compounds with potent pro-oligodendrogenic activity, selected through a scoring strategy (OligoScore) based on their modulation of oligodendrogenic and (re)myelination-related transcriptional programs. Through in vitro neural and oligodendrocyte progenitor cell (OPC) cultures, ex vivo cerebellar explants, and in vivo mouse models of PBI and MS, we identify FDA-approved leucovorin and dyclonine as promising candidates.
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