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1.
Int J Lab Hematol ; 39(3): 293-300, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28263027

ABSTRACT

INTRODUCTION: Hemostasis protects upon the occurrence of vascular endothelial damage, with involving of different factors. The interaction of these factors in older adults is poorly known, and has been associated with different disorders. Therefore, we determined the activity of coagulation factors (CF), anticoagulant proteins (AP), and plasminogen (Plg), as well as the frequency of deficiencies of these proteins in a population of healthy Mexican older adults (OA). METHODS: CF (I, II, V, VII, VIII, IX, X, and XI y XII), AP [protein C (PC), protein S (PS), and antithrombin (AT)], and Plg were determined from 244 plasma samples of OA using commercial kits in a coagulometer ACL Elite Pro. RESULTS: A total of 139 women and 105 men were under study. They were divided into age range groups (50-59, 60-69, 70-79, and ˃80 years). Activity of CF, AP, and Plg was determined. Frequencies of CF, AP, and Plg activity values were obtained for each age group according to gender. Differences were found between both frequencies for each protein. CONCLUSION: Significant differences were found, so it is recommended to establish reference values (RV) for the activity of fibrinogen and FX by decade and gender, FVII and FXII by gender, FII, FV, FVIII, PC, PS, and Plg by decade, whereas for FIX, FXI, and AT, they are not modified by age or gender, so the RV described for adult Mexican population can be used. It is important to integrate these results into established diagnostic algorithms, which can be taken into account to provide an accurate diagnosis and treatment for patients with suspected hemorrhagic or thrombotic processes, as well as suggest those habits that improve their quality of life, to maintain optimal health and prevent thrombotic and hemorrhagic events.


Subject(s)
Aging/blood , Anticoagulants/blood , Blood Coagulation Factors/metabolism , Hemostasis , Plasminogen/metabolism , Adult , Aged , Aged, 80 and over , Blood Coagulation Tests/methods , Endothelium, Vascular/injuries , Endothelium, Vascular/metabolism , Female , Humans , Male , Middle Aged
2.
Clin Exp Med ; 11(4): 227-34, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21253810

ABSTRACT

The most important mutation associated with Multiple Endocrine Neoplasia type 2B (MEN 2B) is the change of thymine to cytosine in codon 918 of exon 16 in the RET oncogene (ATG â†’ ACG). The aim of this work was to develop a single oligoarray by using tandem hybridization to detect the T918C/RET mutation for MEN 2B patients. Two genetically non-related families were studied; each family had a member affected by MEN2B. Both patients presented the T918C/RET mutation in a heterozygous fashion. None of the relatives was positive for this mutation; thus, these cases arose de novo. The proper mutation was confirmed by with different tools, PCR-Fok I endonuclease, direct sequencing, and also using our oligoarray. In this case, it is suitable to use a DNA target smaller than 150 bases with single- or double-stranded DNA and short probes of 7-mer. It was also possible to detect the mutation by employing different sources of DNA, fresh or paraffin-embedded tissues. Therefore, the present oligoarray can identify the most common M918T mutation of RET oncogene from a variety of DNA sources with good specificity and be a good alternative in the molecular diagnosis for MEN 2B cases.


Subject(s)
Molecular Diagnostic Techniques/methods , Multiple Endocrine Neoplasia Type 2b/diagnosis , Mutation, Missense , Oligonucleotide Array Sequence Analysis/methods , Proto-Oncogene Proteins c-ret/genetics , Adolescent , Child , Female , Humans , Male , Multiple Endocrine Neoplasia Type 2b/genetics , Sensitivity and Specificity
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