Prion diseases, such as scrapie, are neurodegenerative diseases with a fatal outcome, caused by a conformational change of the cellular prion protein (PrP), originating with the pathogenic form (PrP). Classical scrapie in small ruminants is the paradigm of prion diseases, as it was the first transmissible spongiform encephalopathy (TSE) described and is the most studied. It is necessary to understand the etiological properties, the relevance of the transmission pathways, the infectivity of the tissues, and how we can improve the detection of the prion protein to encourage detection of the disease. The aim of this review is to perform an overview of classical and atypical scrapie disease in sheep and goats, detailing those special issues of the disease, such as genetic factors, diagnostic procedures, and surveillance approaches carried out in the European Union with the objective of controlling the dissemination of scrapie disease.
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http://dx.doi.org/10.3390/ani11030691 | DOI Listing |
J Clin Med
January 2025
Department of Pediatric Rheumatology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Universitat de Barcelona, 08950 Barcelona, Spain.
To investigate the prevalence and clinical spectrum of atypical or non-classical complications in adult-onset Still's disease (AOSD) beyond macrophage activation syndrome (MAS) and to identify factors linked to their occurrence. Multicenter cross-sectional study of AODS cases included in the Spanish registry on Still's disease. This study included 107 patients (67% women), of whom 64 (59.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Soft-Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, 35128 Padua, Italy.
Diagnosis of nevoid melanoma (NeM) is often difficult because NeM closely resembles a common nevus clinically and histologically. A retrospective study was conducted on 110 patients diagnosed with and/or treated for primary nevoid melanoma at the Veneto Institute of Oncology and at the University Hospital of Padua from August 1999. Mean Breslow thickness was of 1.
View Article and Find Full Text PDFCureus
December 2024
Department of Otolaryngology, Head and Neck Surgery, General Hospital of Athens "Georgios Gennimatas", Athens, GRC.
Objective: This study aims to present a case of temporal bone (TBP) paraganglioma with an insidious clinical presentation, deviating significantly from the typical hearing loss and pulsatile tinnitus pattern.
Methods: A 70-year-old lady presented to the emergency department with a five-day history of right progressive later cervical swelling extending to the mastoid region and chronic worsening purulent otorrhea. The clinical and radiological findings confirmed the presence of a chronic middle ear process complicated by a Bezold abscess.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFCureus
December 2024
Department of Neurosurgery, NMC Royal Hospital, Abu Dhabi, ARE.
Patients presenting with acute onset of headache and ophthalmoplegia are clinically diagnosed as having a pituitary adenoma with apoplexy. Rarely, other diseases can mimic this condition clinically and radiologically, requiring a high index of suspicion to reach the correct diagnosis. We present a case of a 37-year-old male of Indian origin, who had intra- and supra-sellar tuberculosis (TB), presenting with classical clinical features of pituitary apoplexy and constitutional symptoms.
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