5 members of a family with periodic cerebellar dysfunctions are described. This rare disorder occurred in the early childhood and is characterised by episodes lasting minutes to hours with severe cerebellar ataxia, dysarthria, diplopie, nystagmus, vertigo and vegetative symptoms. The examinations between attacks are almost normal. The inheritance appears to be autosomal dominant. An atrophy of the cerebellar vermis was found in two patients. Syndrome and investigation results were compared to the seven papers according this disorder, which were published until now.
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http://dx.doi.org/10.1055/s-2007-1001986 | DOI Listing |
J Relig Health
January 2025
Psychiatric Nursing Department, Gulhane Faculty of Nursing, University of Health Sciences, Turkiye, 06010, Etlik, Ankara, Turkey.
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder characterized by recurrent febrile episodes that are accompanied by pain in the abdomen, chest, or joints caused by peritonitis, pleuritis, skin lesions, arthritis, and pericarditis. This original article aims to provide an analytic autoethnographic account of a Turkish patient's experience of FMF, with a focus on the discovery of spiritual meaning. In addition to discussing the grief reactions to a loss of health, the article uses self-reflexive discourse and narrative-based analysis to explore four stages of discovery of spiritual meaning through FMF: "omnipotent me," "God's punishment," "God's test," and "God's mercy.
View Article and Find Full Text PDFGastrointest Endosc
January 2025
The Gonczarowski Family Institute of Gastroenterology and Liver Diseases, Shamir (Assaf Harofeh) Medical Center, Zerifin, Israel and The Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel. Electronic address:
Background And Aims: Guidelines recommend endoscopic detorsion in cases of sigmoid volvulus without ischemia or perforation, but the timing in which this should be performed is unclear.
Methods: Admissions for sigmoid volvulus in which endoscopic detorsion was performed between 1/2010-4/2024 were retrospectively reviewed. The timing was calculated as the time between when the confirmatory radiologic exam and endoscopic detorsion were performed.
Lancet Reg Health Am
February 2025
World Trade Center Health Program, Renaissance School of Medicine, Stony Brook University, NY, USA.
Background: After surviving Coronavirus Disease 2019 (COVID-19), some people develop symptoms known as post-acute sequelae of COVID-19 (PASC). PASC is an emerging phenomenon yet to be fully understood, and identifying risk factors has been challenging. This study investigated the association between the number of COVID-19 episodes and the incidence of PASC among essential workers.
View Article and Find Full Text PDFJ Alzheimers Dis
January 2025
Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Background: Understanding the sequential progression of cognitive decline in autosomal dominant Alzheimer's disease (ADAD) in the Latino population is crucial for enhancing early identification for targeted interventions. Given the tablet-based administration and increasing frequency of use in epidemiological research, validating this progression within the NIH Toolbox cognitive battery (NIHTB-CB) is important.
Objective: The first aim was to utilize an innovative Event-Based Modeling (EBM) analytic approach to estimate the sequence of cognitive declines in persons at risk for ADAD enriched for being of Latino origin.
Early Interv Psychiatry
February 2025
Department of Psychiatry, Boston University School of Medicine, Boston, Massachusetts, USA.
Background: Fostering positive relationships with mental health professionals and involving family in treatment can reduce untreated psychosis duration and prevent dropout.
Aims: The present study explores the experiences of young adults with psychosis as they engage in mental health treatment and communicate with family caregivers. Describing their lived experiences would inform the clinical engagement process and pathways to clinical outcomes.
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