Results 171 to 180 of about 99,302 (260)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan   +4 more
wiley   +1 more source

The effects of royal jelly on human health: A narrative review of clinical studies

open access: yesJSFA reports, EarlyView.
Abstract Royal jelly (RJ) is a natural bioactive substance with documented effects on human health. This narrative review synthesizes evidence from clinical and clinically relevant experimental studies evaluating the therapeutic potential of RJ.
Goras Georgios   +2 more
wiley   +1 more source

Refractory Eczema as a Presenting Feature of Common Variable Immunodeficiency

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Common variable immunodeficiency (CVID) is the most prevalent symptomatic inborn error of immunity (IEI) in adults. It presents with recurrent infections and non‐infectious complications, including autoimmunity, lymphoproliferation and dermatitis.
Mercedes Sanchez‐Diaz   +2 more
wiley   +1 more source

Role of ZNF652 in Regulating Hepatocellular Carcinoma Cell Proliferation and Apoptosis via the circRHOT1/SLC38A6 Axis

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Hepatocellular carcinoma (HCC) is a heterogeneous malignancy characterized by high mortality rates. This article presents a discussion of the role of ZNF652 in HCC cell proliferation and apoptosis, thereby identifying a new target for HCC treatment. The expression levels of ZNF652, circRHOT1, and SLC38A6 in HCC and healthy cells were analyzed.
Kang Chen   +7 more
wiley   +1 more source

Identification of Clinical Factors Associated With the Immunogenicity of Homologous ChAdOx1‐nCoV‐19 Vaccine in Hemodialysis Patients

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Hemodialysis (HD) patients are at higher risk of severe COVID‐19 and may exhibit suboptimal vaccine responses. This study evaluates the factors influencing vaccine‐induced immunity in HD patients following the second dose of the Vaxzevria. A total of 276 HD patients and 126 controls were included. Antibody responses were assessed using binding
Chia‐Wei Chang   +9 more
wiley   +1 more source

Triggering Receptor Expressed on Myeloid Cells‐2 Regulates Innate Lymphoid Cell Levels in Bleomycin‐Induced Pulmonary Fibrosis

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Idiopathic pulmonary fibrosis, a pathological change causing poor outcomes, is not reversible despite current antifibrotic therapy. Emerging evidence suggests that innate lymphoid cells (ILCs) mediate lung inflammation and fibrosis after stimulation by endogenous factors.
Hsiao‐Chin Shen   +7 more
wiley   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

open access: yes
JPGN Reports, EarlyView.
Jamie M. Klapp   +4 more
wiley   +1 more source

Should the GBD risk factor rankings be used to guide policy?

open access: yes, 2013
Cairncross, Sandy, Watts, Charlotte
core   +1 more source

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

open access: yesMass Spectrometry Reviews, EarlyView.
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt   +2 more
wiley   +1 more source

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