Results 101 to 110 of about 15,568 (286)

Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Congenital methemoglobinemia caused by hemoglobin variants is a rare hematological disorder often misdiagnosed due to overlapping features with enzymatic defects. Hb Tübingen, a β‐globin chain variant (βCD106), is characterized by increased autoxidation, heat instability, and cyanosis.
Hualei Luo   +7 more
wiley   +1 more source

What Immunological Defects Predispose to Non-tuberculosis Mycobacterial Infections? [PDF]

open access: yes, 2017
Nontuberculous mycobacteria (NTM) are categorized as one of the large and diverse groups of environmental organisms which are abundant in water and soil.  NTM cause a variety of diseases in humans that mainly affect the lung.
Adcock, IM   +7 more
core  

Pattern recognition receptors in antifungal immunity [PDF]

open access: yes, 2014
We thank the Wellcome Trust for funding this study.Peer reviewedPublisher ...
Brown, Gordon D   +2 more
core   +2 more sources

A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education

open access: yesJournal of Dental Education, EarlyView.
ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall   +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

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives [version 1; referees: 2 approved]

open access: yesF1000Research, 2017
The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology.
Barbara Bosch   +2 more
doaj   +1 more source

Cytosolic Phospholipase A2α and Eicosanoids Regulate Expression of Genes in Macrophages Involved in Host Defense and Inflammation [PDF]

open access: yes, 2013
Acknowledgments: We thank Dr. Robert Barkley and Charis Uhlson for mass spectrometry analysis. Funding: This work was supported by grants from the National Institutes of Health HL34303 (to C.C.L., R.C.M. and D.L.B), DK54741 (to J.V.B.), GM5322 (to D.L.W.)
Bonventre, Joseph V.   +9 more
core   +3 more sources

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

Preclinical 1H MRS Study of a Porcine Model Shows Evidence and Mechanisms for Acute Neuronal Injury in Neonatal Cardiopulmonary Bypass (CPB) Surgery

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Congenital heart disease affects 1% of US births, with some infants requiring cardiothoracic surgery under cardiopulmonary bypass (CPB). Optimal surgical parameters to minimize neuronal injury are unknown. We used serial 1H MRS in a neonatal CPB porcine model to assess acute neuronal damage and associated injury mechanisms.
Aaron Omon   +5 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy