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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.
Orphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
European Society of Cardiology quality indicators for the management of acute coronary syndrome.
Eur Heart J Acute Cardiovasc Care
January 2025
Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain.
Background: Closing the evidence-practice gap for the treatment of acute coronary syndrome (ACS) is central to improving quality of care. Under the European Society of Cardiology (ESC) framework, we aimed to develop updated quality indicators (QIs) for the evaluation of quality of care and outcomes for patients with ACS.
Methods: A Working Group of experts including members of the ESC Clinical Practice Guidelines Task Force for ACS, Acute CardioVascular Care Association and European Association of Percutaneous Cardiovascular Interventions followed the ESC methodology for QI development.
sp. nov. and sp. nov., two bacteria isolated from marine sediment in the East China Sea.
Int J Syst Evol Microbiol
January 2025
Li Dak Sum Yip Yio Chin Kenneth Li Marine Biopharmaceutical Research Center, Ningbo University, Ningbo 315800, PR China.
Two Gram-stain-negative, curved-rod-shaped, non-motile and aerobic bacteria W6 and I13 were isolated from marine sediment samples collected from Meishan Island located in the East China Sea. Catalase and oxidase activities and hydrolysis of Tween 40, 60 and 80 were positive for both strains, while nitrate reduction, indole production, methyl red reaction and HS production were negative. Phylogenetic analyses based on 16S rRNA and genome sequences revealed that strains W6 and I13 formed distinct phylogenetic lineages within the genera and , respectively.
View Article and Find Full Text PDFUse of Oral Rub and Rinse Technique for Oral Cancer Screening: Results from a Community-based Program in an LMIC.
Asian Pac J Cancer Prev
January 2025
Nitte (Deemed to be University), Nitte University Centre for Science Education and Research (NUCSER), Division of Molecular Genetics and Cancer, Mangaluru, Karnataka, India.
Background: Oral cancer screening programs can aid in the early identification of potentially malignant oral lesions. The objective of the present study was to evaluate the effectiveness of the Oral Rub and Rinse (ORR) technique as an oral cancer screening tool and to test its potential in detecting genetic alterations in exfoliated cells obtained through ORR.
Methods: The screening programs were conducted in rural Dakshina Kannada and Udupi districts in Karnataka.
Performance of weighted genomic BLUP and Bayesian methods for Hanwoo carcass traits.
Trop Anim Health Prod
January 2025
Department of Biotechnology, Yeungnam University, Gyeongsan, Gyeongbuk, 38541, Republic of Korea.
To improve the quality and yield of the Korean beef industry, selection criteria often focus on estimated breeding values for carcass weight (CWT), eye muscle area (EMA), backfat thickness (BF), and marbling score (MS). This study estimated genetic parameters and assessed the accuracy of genomic estimated breeding values (GEBVs) using SNP weighting methods. We compared the accuracy of these methods with the genomic best linear unbiased prediction (GBLUP) and various Bayesian approaches (BayesA, BayesB, BayesC, and BayesCPi) for the specified traits.
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