Rare disease drug development could benefit substantially from increased patient engagement and input to enhance understanding of the key aspects of disease impact, ways to measure these impacts and patients' perspectives on the benefit-risk profile of potential therapies.
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http://dx.doi.org/10.1038/nrd.2016.133 | DOI Listing |
Viruses
December 2024
HUN-REN Veterinary Medical Research Institute, 1143 Budapest, Hungary.
To address a gap in our understanding of viral infections in epidemiologically important rat species, we aimed to detect DNA viruses from the tissues of free-ranging rat populations in Hungary. DNA viruses were identified from the parenchymal organs of 230 and , using family-specific pan-PCR assays followed by sequencing of the PCR products. Adeno-, herpes-, circo-, and polyomaviruses were detected, while irido-, pox-, and dependoparvoviruses were not.
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November 2024
Department of Biological Sciences, University of Alabama, Tuscaloosa, AL 35487, USA.
Unlabelled: Di(2-ethhylhexyl) phthalate (DEHP) is a common plastic rubberizer. DEHP leaches from plastic matrices and is under increasing scrutiny as numerous studies have linked it to negative human health manifestations. Coxsackievirus B3 (CVB) is a human pathogen that typically causes subclinical infections but can sometimes cause severe diseases such as pancreatitis, myocarditis, and meningoencephalitis.
View Article and Find Full Text PDFVaccines (Basel)
November 2024
Institute of Virology, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
Background/objectives: Marburg virus (MARV) is the etiological agent of Marburg Virus Disease (MVD), a rare but severe hemorrhagic fever disease with high case fatality rates in humans. Smaller outbreaks have frequently been reported in countries in Africa over the last few years, and confirmed human cases outside Africa are, so far, exclusively imported by returning travelers. Over the previous years, MARV has also spread to non-endemic African countries, demonstrating its potential to cause epidemics.
View Article and Find Full Text PDFPharmaceutics
December 2024
Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Osteosarcoma is a rare disease, but it is the most frequent malignant bone tumor. Primary treatment consists of preoperative MAP (methotrexate (MTX), doxorubicin and cisplatin) chemotherapy followed by surgery and adjuvant chemotherapy. Pathological response to preoperative chemotherapy is one of the most important prognostic factors, but molecular biomarkers are lacking.
View Article and Find Full Text PDFNutrients
December 2024
Pediatric Hepatology and Liver Transplant Unit, Department of Pediatrics, ERN Rare Liver ERN TransplantChild, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.
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