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Factor deficiencies

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https://www.readbyqxmd.com/read/28806738/partial-igf-1-deficiency-is-sufficient-to-reduce-heart-contractibility-angiotensin-ii-sensibility-and-alter-gene-expression-of-structural-and-functional-cardiac-proteins
#1
José Luis González-Guerra, Inma Castilla-Cortazar, Gabriel A Aguirre, Úrsula Muñoz, Irene Martín-Estal, Elena Ávila-Gallego, Miriam Granado, Juan E Puche, Ángel Luis García-Villalón
Circulating levels of IGF-1 may decrease under several circumstances like ageing, metabolic syndrome, and advanced cirrhosis. This reduction is associated with insulin resistance, dyslipidemia, progression to type 2 diabetes, and increased risk for cardiovascular diseases. However, underlying mechanisms between IGF-1 deficiency and cardiovascular disease remain elusive. The specific aim of the present work was to study whether the partial IGF-1 deficiency influences heart and/or coronary circulation, comparing vasoactive factors before and after of ischemia-reperfusion (I/R)...
2017: PloS One
https://www.readbyqxmd.com/read/28806402/multi-functional-mechanisms-of-immune-evasion-by-the-streptococcal-complement-inhibitor-c5a-peptidase
#2
Nicola N Lynskey, Mark Reglinski, Damien Calay, Matthew K Siggins, Justin C Mason, Marina Botto, Shiranee Sriskandan
The complement cascade is crucial for clearance and control of invading pathogens, and as such is a key target for pathogen mediated host modulation. C3 is the central molecule of the complement cascade, and plays a vital role in opsonization of bacteria and recruitment of neutrophils to the site of infection. Streptococcal species have evolved multiple mechanisms to disrupt complement-mediated innate immunity, among which ScpA (C5a peptidase), a C5a inactivating enzyme, is widely conserved. Here we demonstrate for the first time that pyogenic streptococcal species are capable of cleaving C3, and identify C3 and C3a as novel substrates for the streptococcal ScpA, which are functionally inactivated as a result of cleavage 7 amino acids upstream of the natural C3 convertase...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28806179/interpreting-magnesium-status-to-enhance-clinical-care-key-indicators
#3
Rebecca B Costello, Forrest Nielsen
PURPOSE OF REVIEW: To update advances in identifying factors affecting magnesium (Mg) status that assist in providing improved evidence-based clinical decision-making for assessing Mg status. RECENT FINDINGS: Findings from recent cohort studies, small randomized control trials, and multiple meta-analyses reinforce earlier work that serum Mg concentrations, urinary Mg excretion, and Mg dietary intakes are inversely associated with cardiovascular disease, chronic kidney disease, and diabetes...
August 12, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28805484/disparate-phospho-smad2-levels-in-advanced-type-2-diabetes-patients-with-diabetic-nephropathy-and-early-experimental-db-db-mouse-model
#4
Lise Høj Thomsen, Morten Fog-Tonnesen, Lisbeth Nielsen Fink, Jenny Norlin, Amaya García de Vinuesa, Troels Krarup Hansen, Emile de Heer, Peter Ten Dijke, Alexander Rosendahl
Uncontrolled activation of transforming growth factor beta (TGF-β) family members is hypothesized to participate in type 2 diabetes (T2D) dependent diabetic nephropathy (DN). We evaluated and compared downstream activation of the Smad2-signaling pathway in kidney samples from T2D patients to kidneys from the T2D model of leptin receptor deficient db/db mouse. Furthermore, expression of TGF-β family members was evaluated to elucidate molecular mechanisms in the mouse model. Kidney samples from patients with advanced stages of DN showed elevated pSmad2 staining whereas db/db mouse kidneys surprisingly showed a decrease in pSmad2 in the tubular compartment...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28805349/crispr-assisted-receptor-deletion-reveals-distinct-roles-for-erbb2-and-erbb3-in-skin-keratinocytes
#5
Maik Dahlhoff, Nadege Gaborit, Sebastian Bultmann, Heinrich Leonhardt, Yosef Yarden, Marlon R Schneider
While the epidermal growth factor receptor (EGFR) is an established regulator of skin development and homeostasis, the functions of the related tyrosine kinase receptors ERBB2 and ERBB3 in this tissue have only recently been examined. Previously reported, skin-specific deletion of each of these receptors in mice resulted in similar defects in keratinocyte proliferation and migration, resulting in impaired wound healing and tumorigenesis. Because both ERBB2 and ERBB3 are targets for treating an array of cancer types, it is important to examine the consequences of receptor inhibition in human keratinocytes...
August 14, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28804850/laboratory-testing-for-von-willebrand-factor-multimers
#6
Susan Oliver, Kun Kan Edwin Lau, Kent Chapman, Emmanuel J Favaloro
Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. As an additional step, an evaluation of VWF structural features by multimer analysis is useful in selective investigations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804848/laboratory-testing-for-von-willebrand-factor-factor-viii-binding-for-2n-vwd
#7
Soma Mohammed, Emmanuel J Favaloro
Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. The current paper describes a protocol for assessment of VWF activity by means of VWF: factor VIII binding (VWF:FVIIIB)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804846/laboratory-testing-for-von-willebrand-factor-ristocetin-cofactor-vwf-rco
#8
Soma Mohammed, Emmanuel J Favaloro
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for these VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. The current paper describes several protocols for assessment of VWF activity by means of VWF ristocetin cofactor (VWF:RCo)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804845/laboratory-testing-for-von-willebrand-factor-collagen-binding-vwf-cb
#9
Emmanuel J Favaloro, Soma Mohammed
Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. This chapter describes several protocols for assessment of VWF activity by means of VWF collagen binding (VWF:CB)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804844/laboratory-testing-for-von-willebrand-factor-antigen-vwf-ag
#10
Emmanuel J Favaloro, Soma Mohammed, Jürgen Patzke
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders arise due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. The current paper describes protocols for assessment of VWF level by means of VWF antigen (VWF:Ag)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804843/diagnosis-or-exclusion-of-von-willebrand-disease-using-laboratory-testing
#11
Emmanuel J Favaloro
von Willebrand disease (VWD) is a common bleeding disorder diagnosed based on clinical features and following laboratory testing. VWD is due to deficiencies or defects in the plasma protein von Willebrand factor (VWF), a large adhesive protein with multiple activities. Laboratory testing therefore centers on assessment of VWF protein level using VWF antigen (VWF:Ag), as well as assays that measure VWF activity, most notably platelet glycoprotein (GP) Ib and collagen binding (VWF:CB) activities. Decreases in VWF:Ag and VWF activities, as well as the pattern of such changes, help define VWD and its type...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804836/assessment-of-factor-xiii
#12
László Muszbek, Éva Katona, Adrienne Kerényi
Blood coagulation factor XIII (FXIII) is essential for maintaining hemostasis. The absence of FXIII results in severe bleeding diathesis, which without prophylaxis frequently leads to fatal bleeding. As the usual hemostasis screening tests remain normal, the diagnosis of FXIII deficiency needs specific tests. Here, we describe FXIII activity determination by the ammonia release assay, which is the first-line test in the diagnostic algorithm for FXIII deficiency. The method for another activity test, the undeservedly rarely used fibrin cross-linking assay, is also presented...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804834/one-stage-factor-viii-assays
#13
Elizabeth Duncan, Susan Rodgers
Coagulation factor assays using one-stage methodology are widely used to measure factor levels for the purpose of detecting a deficiency, or to monitor replacement therapy. In this chapter, we focus on a method to measure Factor VIII coagulant activity (FVIII:C) by the one-stage assay (FVIII:C-1), with extra information provided to also allow this method to apply to Factor IX (FIX), Factor XI (FXI), and Factor XII (FXII). From the perspective of laboratory testing, these factors are components of the "intrinsic" coagulation pathway and are all measured in test systems based on the correction of the Activated Partial Thromboplastin Time (APTT)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#14
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804820/performance-and-interpretation-of-mixing-tests-in-coagulation
#15
Geoffrey Kershaw
Mixing tests in coagulation studies allow the laboratory to correctly differentiate factor deficiency from inhibitors as the cause of a prolonged clotting time. This is important in terms of subsequent laboratory follow-up and clinical patient management. In this chapter, a suggested method of performing mixing tests is given, with procedures applying two different formulas for interpretation, the percent correction and the index of circulating anticoagulant.
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804819/performance-of-activated-partial-thromboplastin-time-aptt-determining-reagent-sensitivity-to-factor-deficiencies-heparin-and-lupus-anticoagulants
#16
Geoffrey Kershaw
The activated partial thromboplastin time (APTT) is a useful global assay for the assessment of the contact factor pathway of hemostasis and its inhibitors. The test is usually performed on fully automated analyzers using commercially prepared reagents. The three main clinical areas of interest are detection of factor deficiencies, detection of lupus anticoagulants and in the monitoring of therapy with unfractionated heparin. Methods are described here for assessing APTT reagents for their sensitivity to clotting time prolongation in each of these areas of interest...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804536/combined-respiratory-chain-deficiency-and-uqcc2-mutations-in-neonatal-encephalomyopathy-defective-supercomplex-assembly-in-complex-iii-deficiencies
#17
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28804502/purification-preliminary-characterization-and-immunological-activity-of-polysaccharides-from-crude-drugs-of-sijunzi-formula
#18
Yunfei Ji, Ruijun Wang, Ying Peng, Chongsheng Peng, Xiaobo Li
Sijunzi Decoction (SJZD) is a conventional prescription for curing spleen deficiency in Traditional Chinese Medicine and polysaccharide is its main ingredient. In order to explore the effective ingredients contributing to the immunological activity of SJZD, we isolated and purified seven homogeneous polysaccharides from Radix Ginseng (RS-3-1 and RS-3-2), Rhizoma Atractylodis Macrocephalae (BZ-3-1, BZ-3-2, and BZ-3-3), Poria (FL-3-1), and Radix Glycyrrhizae (GC-3-1) decoctions, respectively. The molecular weight of seven homogeneous polysaccharides ranged from 5...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28804006/vitamin-d-deficiency-is-a-risk-factor-for-infections-in-patients-affected-by-hcv-related-liver-cirrhosis
#19
Antonio Riccardo Buonomo, Emanuela Zappulo, Riccardo Scotto, Biagio Pinchera, Giuseppe Perruolo, Pietro Formisano, Guglielmo Borgia, Ivan Gentile
OBJECTIVES: To evaluate the prevalence of vitamin D deficiency and its impact on infections in HCV-related liver cirrhosis. METHODS: We enrolled 291 patients affected by HCV-related liver cirrhosis. Serum vitamin D levels were dosed at enrolment. The presence of infection was assessed at baseline and during follow-up based on physical examination and laboratory analyses. RESULTS: Vitamin D deficiency (<20ng/mL) was diagnosed in 68.3% of patients, and a total of 102 infections were detected...
August 10, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28803914/targeted-disruption-of-tcf12-reveals-heb-as-essential-in-human-mesodermal-specification-and-hematopoiesis
#20
Yang Li, Patrick M Brauer, Jastaranpreet Singh, Sintia Xhiku, Kogulan Yoganathan, Juan Carlos Zúñiga-Pflücker, Michele K Anderson
Hematopoietic stem cells arise from mesoderm-derived hemogenic endothelium (HE) during embryogenesis in a process termed endothelial-hematopoietic transition (EHT). To better understand the gene networks that control this process, we investigated the role of the transcription factor HEB (TCF12) by disrupting the TCF12 gene locus in human embryonic stem cells (hESCs) and inducing them to differentiate toward hematopoietic outcomes. HEB-deficient hESCs retained key features of pluripotency, including expression of SOX2 and SSEA-4 and teratoma formation, while NANOG expression was reduced...
August 2, 2017: Stem Cell Reports
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