Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies have suggested that genetics may be involved in CWG. Herein, we reported a novel variant of in a child with CwG. This is the first report that may be associated with CwG. Our report may provides evidence for the genetic etiology of CwG and expands the phenotypic and genetic spectrum of -related disorders, which previously included severe developmental and epileptic encephalopathy (DEE) phenotype, benign epilepsy phenotype, spectrum of intermediate epilepsies, and patients with cognitive and/or behavioral disturbances without epilepsy. Phenotype of CwG has a good prognosis, and it does not require long-term antiepileptic therapy. Overtreatment should be avoided clinically. However, the conclusion needs to be further defined by long-term follow-up and similar clinical reports. In spite of this, our clinical observation provides possible evidence for future studies on the relationship between and CwG.
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http://dx.doi.org/10.3389/fneur.2022.995513 | DOI Listing |
BMC Gastroenterol
January 2025
The Second Clinical Medical College of Zhejiang Chinese Medical University, Zhejiang Chinese Medical University, Hangzhou, China.
Background And Aim: Ulcerative colitis (UC) is characterized by complex immunological interactions involving CD4 T cell subsets and the NLRP3 inflammasome, which influence inflammatory responses. This investigation focused on delineating the activation profiles of these components and their correlation with disease severity and activity, assessing their diagnostic implications in UC.
Methods: We conducted immunohistochemistry and ELISA assays to measure markers expression of CD4 T cell subsets and the NLRP3 inflammasome in UC patients versus controls.
Lancet
January 2025
Division of General and Thoracic Surgery, Hospital for Sick Children, Toronto, ON, Canada.
Background: Support for the treatment of uncomplicated appendicitis with non-operative management rather than surgery has been increasing in the literature. We aimed to investigate whether treatment of uncomplicated appendicitis with antibiotics in children is inferior to appendicectomy by comparing failure rates for the two treatments.
Methods: In this pragmatic, multicentre, parallel-group, unmasked, randomised, non-inferiority trial, children aged 5-16 years with suspected non-perforated appendicitis (based on clinical diagnosis with or without radiological diagnosis) were recruited from 11 children's hospitals in Canada, the USA, Finland, Sweden, and Singapore.
J Neurol
January 2025
Sorbonne Université, Assistance Publique, Hôpitaux de Paris, Inserm U974, Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, Paris, France.
Objectives: Granulomatous myositis (GM) is a rare entity whose precise clinical features and therapeutic outcomes have not yet been well defined. Given the limited evidence, data from a large cohort of patients is needed to aid in the recognition and management of this condition.
Methods: We retrospectively analyzed our institutional databases to identify patients who had myositis and non-caseating granuloma on muscle biopsy (GM).
Ned Tijdschr Geneeskd
January 2025
Maasstad Ziekenhuis, afd. Kindergeneeskunde, Rotterdam.
This case concerns a boy presenting with oral pain and multiple mucocutaneous lesions such as mucositis, conjunctivitis, and a rash on the trunk, extremities, and genitalia. The presence of mild respiratory complaints raised suspicion of an extrapulmonary manifestation of , known as -induced Rash and Mucositis (MIRM). The patient underwent conservative treatment and was monitored to prevent chronic sequels such as ocular damage or sicca keratoconjunctivits.
View Article and Find Full Text PDFHum Vaccin Immunother
December 2025
Clinical Development, Takeda Pharmaceuticals International AG, Zurich, Switzerland.
As infants suffer significant morbidity and mortality due to norovirus-related acute gastroenteritis (AGE), we assessed four formulations of the bivalent virus-like particle (VLP) vaccine candidate (HIL-214) in Panamanian and Colombian infants. 360 infants aged 6 weeks to 5 months were randomly allocated to 8 groups to receive three doses of HIL-214 or two doses of HIL-214 and one dose of placebo (Days 1, 56 and 112), where HIL-214 doses contained 15/15, 15/50, 50/50 or 50/150 μg of GI.1/GII.
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