Results 81 to 90 of about 4,732,768 (313)

COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome

Case Reports in Medicine, 2023
Introduction. Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in ...
Alessia Laneri, Stefania Cerri, Giovanni Della Casa, Antonio Moretti, Andreina Manfredi, Marco Sebastiani, Enrico Clini, Carlo Salvarani   +7 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Targeting MAPK-dependent pathways to modulate reactive astrocyte pathology in neurodegeneration

Communications Biology
Reactive astrocytes play a crucial role in the pathogenesis of neurodegenerative diseases; however, the mechanisms underlying glial cell interactions remain poorly understood.
Iqra Pervaiz, Anna S. Blazier, Ivan Nyarko-Danquah, Hendrik Wesseling, Adriana Ramos, Lisa Woodworth, Tatyana V. Taksir, Sean K. Ryan, Gregory Wirak, Zhonglin Zhao, Timothy R. Hammond, Caroline Morel, Dinesh S. Bangari, Dimitry Ofengeim, Francesca Rapino, Nellwyn Hagan   +15 more
doaj   +1 more source

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Orphanet Journal of Rare Diseases, 2020
The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs).
C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard, M. Scarpa, MetabERN collaboration group   +12 more
doaj   +1 more source

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source

Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) [PDF]

, 2022
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD).
Oliveira, Bibiana Mello de, Carvalho, Isabelle, Alves, Domingos Savio do Nascimento, Faccini, Lavinia Schuler, Bernardi, Filipe Andrade, Schwartz, Ida Vanessa Doederlein, Acosta, Angelina Xavier, Ferraz, Victor Evangelista de Faria, Giugliani, Roberto, Artifon, Milena, Sorte, Ney Boa, Sanseverino, Maria Teresa Vieira, Felix, Temis Maria, RARAS Network Group, Saute, Jonas Alex Morales   +14 more
core   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

National Clinical Programme for Rare Diseases Workshop on Clinical Research in Rare Diseases

, 2018
The National Clinical Programme was established in December 2013. It is an initiative of the HSE, in partnership with the Royal College of Physicians. A key objective of the Clinical Programme for Rare Diseases is to improve access for rare diseases ...
National Clinical Programme for Rare Diseases
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Digital-Intellectualized Upgrade and Clinical Application of National Rare Diseases Registry System of China

Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China.
GUO Jian, JIN Ye, LIU Peng, CHEN Limeng, ZHANG Shuyang, on behalf of the administrative group of National Rare Diseases Registry System of China, ZHANG Dingding, ZHU Yicheng   +7 more
core   +1 more source

Funding rare disease therapies in Australia: ensuring equitable access to health care for all Australians [PDF]

, 2014
This report argues that Australia’s system for funding new therapies that treat rare diseases is in need of reform. Overview In the last 4 years only two new therapies have been approved under Australia’s current program for rare disease therapies ...

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