Results 71 to 80 of about 30,834,870 (206)

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

Arquivos de Gastroenterologia, 2001
Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic ...
De TOMMASO Adriana Maria Alves, ROSSI Cláudio Lúcio, ESCANHOELA Cecília Amélia Fazzio, SERRA Heliane Guerra, BERTUZZO Carmen Sílvia, HESSEL Gabriel   +5 more
doaj  

Serum alpha-1-antitrypsin level in Iraqi patients with coronary heart disease

مجلة مركز بحوث التقنيات الاحيائية, 2011
This study was designed to estimate the level of serum alpha -1- antitrypsin in patients with coronary heart disease. Patients were clinically subdivided into stable angina 25 patients, unstable angina30 patients and myocardial infarction 50 patients. A
Asmaa M. Salih
doaj   +1 more source

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

Alpha-1-antitrypsin deficiency and liver disease.

Acta Médica Portuguesa, 1981
In this review article only the liver disease associated with aipha-1-antitrypsin deficiency will be considered. For the well recognised association with lung disease the review by Mittman is recommended.
G. H. Millward-Sadler
doaj   +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

SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort [PDF]

, 2012
BACKGROUND: Severe alpha1-antitrypsin (AAT) deficiency is a strong risk factor for COPD. But the impact of gene variants resulting in mild or intermediate AAT deficiency on the longitudinal course of respiratory health remains controversial.
Margaret Gerbase, Nicole M Probst-Hensch, Zorzetto Michele, Zorzetto, M., F. Kronenberg, P. Bridevaux, Ottaviani, S., LUISETTI, MAURIZIO, Zemp, E., N. M. Probst Hensch, Elisabeth Zemp (142900), Erich W Russi, Gian-Andri Thun (142891), Gerbase Margaret, Russi Erich W., Gian-Andri Thun, Thierry Rochat, E. Zemp, FERRAROTTI, ILARIA, Florian Kronenberg (87557), Maurizio Luisetti (142908), G. Thun, Nicole M. Probst-Hensch (110284), Michele Zorzetto (142902), Russi, E. W., Medea Imboden, Stefania Ottaviani, Ilaria Ferrarotti (142893), Pierre-Olivier Bridevaux, Kronenberg Florian, Florian Kronenberg, Ferrarotti, I., Bridevaux Pierre-Olivier, Luisetti Maurizio, S. Ottaviani, Erich W. Russi (142906), Ferrarotti Ilaria, Stefania Ottaviani (142904), Thun Gian-Andri, Michele Zorzetto, E. W. Russi, Gerbase, M., Bridevaux, P. O., Pierre-Olivier Bridevaux (142898), Rochat, T., T. Rochat, Thierry Rochat (110261), Thun, G. A., M. Gerbase, Ilaria Ferrarotti, Margaret Gerbase (142896), Elisabeth Zemp, Maurizio Luisetti, Imboden, M., Medea Imboden (110145), Imboden Medea, M. Zorzetto, Rochat Thierry, Kronenberg, F., Probst-Hensch, N. M., M. Imboden, Probst-Hensch Nicole M., Luisetti, M., Ottaviani Stefania, Zemp Elisabeth   +64 more
core   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

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

Alcohol‐Associated Pancreatitis Confers Higher Risk of Advanced Liver Disease Than Alcohol Withdrawal Syndrome

Journal of Gastroenterology and Hepatology, EarlyView.
ABSTRACT Background and Aim Alcohol‐associated liver disease frequently presents late as decompensated cirrhosis, representing a missed opportunity for intervention. Extrahepatic alcohol‐related presentations requiring acute care, such as alcohol‐associated pancreatitis and alcohol withdrawal syndrome, may identify heavy drinkers at varying risk for ...
Butros Fakhoury, Leandro Sierra, Krishan Patel, Hyundam Gu, Luis Antonio Díaz, Juan Pablo Arab   +5 more
wiley   +1 more source