Background: A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.
Investigations: Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.
Diagnosis: Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).
Management: Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.
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http://dx.doi.org/10.1038/ncpneuro0706 | DOI Listing |
Environ Pollut
January 2025
State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou 510060, P. R. China; Department of Head and Neck Surgery, Sun Yat-sen University Cancer Center, Guangzhou, China. Electronic address:
Differentiated thyroid cancer (DTC) generally has a favorable prognosis, and radioactive iodine (RAI) therapy is typically used for metastatic DTC that continues to progress and poses life-threatening risks. However, resistance to RAI in metastatic DTC significantly impairs treatment effectiveness. This study aims to identify potential compounds that may influence RAI efficacy.
View Article and Find Full Text PDFJ Psychiatr Res
December 2024
Department of Psychiatry, Stellenbosch University, Cape Town, South Africa.
Despite research advances and progress in health care, schizophrenia remains a debilitating and costly disease. Onset occurs typically during youth and can lead to a relapsing and ultimately chronic course with persistent symptoms and functional impairment if not promptly and properly treated. Consequently, over time, schizophrenia causes substantial distress and disability for patients, their families and accrues to a collective burden to society.
View Article and Find Full Text PDFESMO Open
January 2025
Uro-Gynecologic Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Naples, Italy. Electronic address:
Background: Ovarian cancer (OvC) constitutes significant management challenges primarily due to its late-stage diagnosis and the development of resistance to chemotherapy. The standard treatment regimen typically includes carboplatin and paclitaxel, with the addition of poly (ADP-ribose) polymerase inhibitors for patients with high-grade serous ovarian cancer (HGSOC) harboring BRCA1/2 mutations. However, the variability in treatment responses suggests the need to investigate factors beyond BRCA1/2 mutations, such as DNA repair mechanisms and epigenetic alterations.
View Article and Find Full Text PDFCurr Pain Headache Rep
January 2025
Department of Anesthesiology, Critical Care, and Pain Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA, 02215, USA.
Purpose Of Review: Complex regional pain syndrome (CRPS) is a chronic condition characterized by disproportional pain typically affecting an extremity. Management of CRPS is centered around specific symptomatology, which tends to be a combination of autonomic dysfunction, nociceptive sensitization, chronic inflammation, and/or motor dysfunction. Targeting the autoimmune component of CRPS provides a way to both symptomatically treat as well as minimize progression of CRPS.
View Article and Find Full Text PDFBMC Public Health
January 2025
Department of Statistics, Borana University, Borena, Oromia Region, Ethiopia.
Introduction: Hypertension is among the most significant non-communicable public health issues worldwide. High blood pressure, or hypertension, has been associated with severe health consequences, including death, aneurysms, stroke, chronic renal disease, eye damage, heart attack, heart failure, peripheral artery disease, and vascular dementia. Consequently, this study aimed to investigate the predictors linked to survival time and the progression of blood pressure measurements in hypertensive patients.
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