Results 31 to 40 of about 30,247,731 (144)

Alpha-1-antitrypsin deficiency [PDF]

, 2022
The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. Early diagnosis is crucial for treatment outcome.
Jensen, Jens Ulrik, Dichmann de Vos, Jesper, Wilcke, Jon Torgny, Perch, Michael, Løkke Ottesen, Anders, Hilberg, Ole   +5 more
core   +4 more sources

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

How I Investigate Bleeding Disorders of Unknown Cause: Current Diagnostic Pathways and Gaps in Laboratory Investigation

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Bleeding disorder of unknown cause (BDUC) constitutes the largest group of patients presenting with a mild‐to‐moderate bleeding tendency in tertiary care settings. Their clinical bleeding phenotype is characterized by mucocutaneous bleeding, as well as bleeding following surgical challenges or childbirth, and is associated with impaired health‐
Dino Mehic, Faris Karaselimovic, Tim Dreier, Johanna Gebhart   +3 more
wiley   +1 more source

An antibody raised against a pathogenic serpin variant induces mutant-like behaviour in the wild-type protein. [PDF]

, 2015
A monoclonal antibody (mAb) that binds to a transient intermediate may act as a catalyst for the corresponding reaction; here we show this principle can extend on a macro-molecular scale to the induction of mutant-like oligomerisation in a wild-type ...
Faull, SV, Lomas, DA, Perez, J, Irving, JA, Kotov, VR, Haq, I, Miranda, E, Motamedi-Shad, N   +7 more
core  

Distinct Microbial and Host Proteome Signatures Relate to Proteolytic Activity in Gingival Crevicular Fluid in an Exploratory Study of Patients With Periodontitis

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Aim Risk assessment tools for periodontitis lack sufficient precision to predict disease progression. The aim of this exploratory study was to evaluate proteolytic activity (PA) in gingival crevicular fluid in relation to clinically assessed progression risk, microbial community composition and host proteome. Materials and Methods Samples were
Miguel Carda‐Diéguez, Stefan Rüdiger, Gunnel Svensäter, Henrik Jansson, Tirthankar Mohanty, Yashuan Chao, Christofer Karlsson, Johan Malmström, Oonagh Shannon, Álex Mira, Julia R. Davies   +10 more
wiley   +1 more source

What is Alpha-1? [PDF]

, 2016
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults ...
ALPHA-1 FOUNDATION, Health Service Executive   +1 more
core  

Hypermanganesemia in Children With Liver and Portosystemic Circulation Disorders: A Systematic Review

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Children with chronic liver disease and portosystemic circulation disorders may have long‐term neurocognitive problems. Hypermanganesemia, reported in this group, could be a contributor. This systematic review aimed to characterise liver and portosystemic circulation disorders associated with hypermanganesemia and reported neurocognitive ...
Helena J. Kim, Susan M. Siew, Ji Hyun Moon, Tracey A. Williams, S. Murthy Chennapragada, Gordon Thomas, Shekeeb S. Mohammad   +6 more
wiley   +1 more source

ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN [PDF]

, 2017
Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.
S. V. STAREVSKAYA, M. V. PINEVSKAYA, E. A. ORLOVA, S. I. MELNIK, V. I. LARIONOVA, I. Y. MELNIKOVA   +5 more
core   +1 more source

Beyond biologic sex: Exploratory insights into the heterogeneity of hormonal and contextual drivers of periodontal and peri‐implant outcomes

Periodontology 2000, EarlyView.
Abstract Background Periodontal and peri‐implant diseases are multifactorial inflammatory conditions influenced by microbial, host, hormonal, genetic, and behavioral factors. Although sex‐based differences in immune and inflammatory responses are well recognized in medicine, the extent to which biologic sex and hormonal status influence the prevalence,
Caitlin Neapole, Mark Gettas, Roberto Farina, Yvonne Hernandez‐Kapila   +3 more
wiley   +1 more source