Records 1-30 (of 46 Records) |
Query Trace: Rare diseases[original query] |
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A medical multimodal large language model for future pandemics Liu et al, NPJ Digital Medicine, December 2, 2023
From the paper: "With the goal of quick deployment of tools for rapid response to rare diseases, we present the medical multimodal large language model (Med-MLLM) framework. We evaluate the effectiveness of Med-MLLM using the COVID-19 pandemic “in replay”, showing that Med-MLLM is able to accomplish accurate COVID-19 decision-support tasks with limited labelled data. In contrast, existing efforts usually require thousands, or even more, labelled data to achieve similar performance. "
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Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study. Duan Chuanxin, et al. Orphanet journal of rare diseases 2023 0 0. (1) 353 |
Patient-physician interactions in hereditary angioedema-Key learnings from the coronavirus disease 2019 pandemic. Maurer Marcus, et al. Clinical and translational allergy 2023 0 0. (9) e12300 |
The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study. Kolambage Yasas D, et al. Orphanet journal of rare diseases 2023 0 0. (1) 279 |
ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products. Talarico Rosaria, et al. Clinical and experimental rheumatology 2023 0 0. |
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases. Rovira-Remisa M Mar, et al. Molecular genetics and metabolism reports 2023 0 0. 100962 |
COVID-Net USPro: An Explainable Few-Shot Deep Prototypical Network for COVID-19 Screening Using Point-of-Care Ultrasound. Song Jessy, et al. Sensors (Basel, Switzerland) 2023 0 0. (5) |
Effectiveness and safety of lanadelumab in ethnic and racial minority subgroups of patients with hereditary angioedema: results from phase 3 studies. Craig Timothy J, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 0 0. (1) 85 |
TELEMEDICINE AND HEALTH POLICY CHANGES IN RESPONSE TO RESTRICTIONS RELATED TO COVID-19 PANDEMICS IN LATVIA. Sen Sevinc Elif, et al. Journal of hypertension 2022 0 0. (Suppl 1) e197-e198 |
COVID-19 in Fabry disease: a reference center prospective study. Bothou Christina, et al. Orphanet journal of rare diseases 2022 0 0. (1) 250 |
Neurofibromatosis: New Clinical Challenges in the Era of COVID-19. Ardizzone Alessio, et al. Biomedicines 2022 0 0. (5) |
Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project. Zhang Huayu, et al. Orphanet journal of rare diseases 2022 0 0. (1) 166 |
Why Do Some People Never Get Covid? DJ Lamas, NY Times, March 8, 2022
The host response to infectious agents has not nearly gotten the attention from genetics that rare diseases, common chronic diseases and cancer have. The knowledge gained here, the understanding of both susceptibility and severity, has opened my eyes to how much more genetics can teach us about infectious disease biology. If there was ever a time to move a field forward through worldwide collaboration and tens of thousands of people willing to offer their genetic information to help spur research, this is it. Just as a Covid vaccine was developed on a time scale many felt impossible, so, too, might genetic research into disease be advancing in huge bounds that in normal times might seem implausible.
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Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva. Kou Samuel, et al. Orphanet journal of rare diseases 2022 0 0. (1) 107 |
[Interfering RNA and antisense oligonucleotide treatments currently available in France: an update]. Bouvenot Gilles, et al. Bulletin de l'Academie nationale de medecine 2022 0 0. |
The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey. Whittington J E, et al. Orphanet journal of rare diseases 2022 0 0. (1) 69 |
C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19. Aiello Sistiana, et al. Blood advances 2021 0 0. |
HAE patient self-sampling for biomarker establishment. Förster Toni M, et al. Orphanet journal of rare diseases 2021 0 0. (1) 399 |
Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy. Suppressa Patrizia, et al. Orphanet journal of rare diseases 2021 0 0. (1) 378 |
Impact of COVID-19 pandemic on rare diseases - A case study on thalassaemia patients in Bangladesh. Hossain Mohammad Sorowar, et al. Public health in practice (Oxford, England) 2021 0 0. 100150 |
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia. Hennig Verena, et al. Orphanet journal of rare diseases 2021 0 0. (1) 373 |
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria. Herle Marion, et al. Orphanet journal of rare diseases 2021 0 0. (1) 367 |
Infection outcome needs two to tango: human host and the pathogen. Maurya Ranjeet, et al. Briefings in functional genomics 2021 0 0. |
Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches. Aledo-Serrano Angel, et al. Orphanet journal of rare diseases 2021 0 0. (1) 316 |
Learning from past respiratory failure patients to triage COVID-19 patient ventilator needs: A multi-institutional study. Carmichael Harris, et al. Journal of biomedical informatics 2021 0 0. 103802 |
[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2]. Faundes Victor, et al. Andes pediatrica : revista Chilena de pediatria 2021 0 0. (2) 309-315 |
Non-Immunotherapy Application of LNP-mRNA: Maximizing Efficacy and Safety. Vlatkovic Irena, et al. Biomedicines 2021 0 0. (5) |
Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome. Mosbah Helena, et al. Orphanet journal of rare diseases 2021 0 0. (1) 202 |
siRNA Therapeutics for the Therapy of COVID-19 and Other Coronaviruses. Sajid Muhammad Imran, et al. Molecular pharmaceutics 2021 0 0. |
Research and Management of Rare Diseases in the COVID-19 Pandemic Era: Challenges and Countermeasures. Chowdhury Sanjana Fatema, et al. Frontiers in public health 2021 0 0. 640282 |
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