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Pubic symphysitis of enthesitis related arthritis mimicking urinary tract infection in a young boy.
Sudan J Paediatr
January 2024
Department of Clinical Immunology & Rheumatology, Sri Ramachandra Institute of Higher Education, Chennai, India.
Enthesitis related arthritis (ERA) is a specific type of juvenile idiopathic arthritis (JIA) and ERA typically begins with enthesitis and peripheral arthritis in the lower extremities, progressing later in the disease to sacroiliitis and spinal involvement. The condition has a strong relationship with the HLA-B27 and primarily affects boys between the ages of 13 and 16 years. We describe an unusual presentation of ERA in a young boy with pubic pain and fever, describing its quintessential magnetic resonance imaging (MRI) findings.
View Article and Find Full Text PDF[Clinical characteristics and prognosis of ovarian juvenile granulosa cell tumors].
Zhonghua Fu Chan Ke Za Zhi
January 2025
Department of Gynecology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing100021, China.
To analyze the clinical characteristics, treatments, and prognosis of patients with ovarian juvenile granulosa cell tumor (JGCT). Clinical and pathological data, and follow-up information of 34 patients diagnosed with JGCT from 2000 to 2021 were collected from the surveillance, epidemiology, and end results (SEER) database. A retrospective analysis was conducted to summarize the patients' clinical and pathological characteristics, treatments, and prognosis.
View Article and Find Full Text PDFNeonatal but not Juvenile Gene Therapy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice.
J Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFCausal Relationship Between Autoimmune Rheumatic Diseases and Iridocyclitis: A Bidirectional Two-Sample Mendelian Randomization Study.
Ocul Immunol Inflamm
January 2025
Department of Neurology & Stroke, University of Tübingen, Tübingen, Germany.
Purpose: This study aims to explore the relationship between autoimmune rheumatic diseases (ARDs) and the risk of iridocyclitis (IC) using Mendelian randomization (MR) analysis.
Methods: Data of ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), juvenile idiopathic arthritis (JIA), Behcet's disease (BD), and iridocyclitis were obtained from genome-wide association studies with large sample sizes. The instrumental variable utilized in this study for each exposure was the single nucleotide polymorphism.
Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
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