Results 121 to 130 of about 32,709 (226)
ABSTRACT Background and Aims Limited evidence suggests autoimmune thyroiditis (AT) could represent a risk factor for cervical artery dissection (CeAD). We tested the hypothesis of a positive association between AT and CeAD within 3 years following diagnosis compared to matched euthyroid controls.
Robert J. Trager +2 more
wiley +1 more source
Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in ...
Dawid Kościołek +9 more
doaj +1 more source
Alpha-1-Antitrypsin Deficiency Panniculitis [PDF]
C, Irvine +3 more
openaire +2 more sources
Reduced Dietary Protein Induces Changes in the Dental Proteome
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs +2 more
wiley +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
Organoids for Metabolic Disease Modeling
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita +2 more
wiley +1 more source
Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch +5 more
wiley +1 more source
Early Cancer Detection: What's Going on and What's Next
Multicancer early detection (MCED) platforms have emerged as a promising strategy for the safe and effective early detection of multiple cancer types, with the potential to reduce metastatic burden and improve clinical outcomes, particularly for aggressive malignancies that lack effective population‐level screening.
Emma Di Carlo
wiley +1 more source
Lung organoids as a human system for Mycobacteria infection modeling and drug testing
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza +4 more
wiley +1 more source
In this study, we used Foxp3‐fatemapping mice to examine the cell lineage stability of Treg cells in pregnancy. Ex‐Foxp3 cells were identified in gestational tissues. However, Treg cells retained lineage stability with no increased ex‐Foxp3 generation, regardless of inflammatory challenges that induce preterm birth.
Kerrie L Foyle +6 more
wiley +1 more source

