Inverse Shifting-PCR Modified by Capillary Electrophoresis for Detecting F8 and Inversions in Severe Hemophilia A Patients and Probable Carriers.

Globally, intron 22 inversions (Inv22s) of the factor VIII gene (F8) are the most frequent pathogenic variants and account for 45-50% of severe hemophilia A (SHA) cases, while intron 1 inversion (Inv1) explains 1-5% of SHA cases. The detection of both inversions by an inverse shifting-polymerase chain reaction (IS-PCR) is the first choice worldwide for the diagnosis of patients and carriers of SHA. To improve its sensitivity and reproducibility in the visualization of PCR products, we approached the IS-PCR with fluorescent capillary electrophoresis instead of agarose electrophoresis.

Diagnosis of von Willebrand disease in Western Mexico.

Introduction: Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of 0.1%, characterised by quantitative or functional deficiency of von Willebrand factor (VWF). VWD diagnosis is based on symptomology, biochemical and genetic tests, but limited laboratory resources and VWD heterogeneity still generate an important subdiagnosis gap worldwide and in our country.

Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience.

Our 25 years of experience in carrier diagnosis of hemophilia A (HA) and B (HB) in Mexican population comprises linkage analysis of intragenic F8/F9 neutral variants along with, in severe HA (SHA), detection of F8 int22h and int1h inversions. In symptomatic carriers (SCs) we explored Lyonization to explain their symtomatology. From a DNA-Bank of 3,000 samples, intragenic restriction fragment length (RFLPs) and short tandem repeats (STRs) of F8/F9 genes were assessed by PCR-PAGE and GeneScan.

Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.

Introduction: Molecular analysis in haemophilia is currently used in the diagnosis, treatment and prognosis of this disease. Hispanic populations in Latin America have been of interest to researchers due to the reportedly high prevalence of inhibitors in these patients.

Aim: To perform next-generation sequencing (NGS) in a cohort of Mexican patients with HA and HB and correlate with clinical phenotypes.

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

Background: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.

Methods: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging.

F8 inversions of introns 22 and 1 confer a moderate risk of inhibitors in Mexican patients with severe hemophilia A. Concordance analysis and literature review.

Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development.

Thrombin generation and international normalized ratio in inherited thrombophilia patients receiving thromboprophylactic therapy.

Background: Thrombin generation assay (TGA) is useful as a global functional test for assessing bleeding or thrombotic risk and its modification with therapy. We investigated TGA to assess anticoagulation status compared with the international normalized ratio (INR) system in patients with primary thrombophilia receiving and not undergoing thromboprophylaxis.

Materials And Methods: We studied 50 patients with at least one thrombotic event and a confirmed diagnosis of inherited thrombophilia.

In vitro interference by acetaminophen, aspirin, and metamizole in serum measurements of glucose, urea, and creatinine.

Objective: Here we aimed to investigate the in vitro effects of three analgesic-antipyretic drugs frequently used in clinical practice in Mexico - acetaminophen (AAP), aspirin (ASA) and metamizole (MMZ) - on serum measurements of glucose, urea, and creatinine.

Design And Methods: Each analyte was measured in a base-serum pool spiked with the drugs at subtherapeutic, therapeutic, and toxic doses. Serum glucose and urea were measured using the hexokinase/G-6PDH and urease/GLDH kinetic assays, respectively.

Thrombin generation as objective parameter of treatment response in patients with severe haemophilia A and high-titre inhibitors.

In Mexico, 15% of haemophilia A (HA) patients develop inhibitory alloantibodies in response to replacement therapy with factor VIII (FVIII), requiring bypass therapy such as activated prothrombin complex concentrate (APCC). Because bypass therapy has not been broadly available in Mexico even in recent years, this study aimed to evaluate the thrombin generation assay (TGA) in assessing the response to FVIII or APCC treatment in patients with severe HA positive to inhibitors. We studied 189 patients with severe HA.

[A clinical and therapeutic analysis in acute megakaryoblastic leukemia].

Objective: to show clinical and therapeutic findings in patients with diagnosis of acute megakaryoblastic leukemia (AML).

Methods: twenty four patients with diagnosis AML was carried out. Clinical, laboratory survey results and treatment response were studied.

Kinetics of factor VIII:C inhibitors and treatment response in severe hemophilia A patients.

Severe hemophilia A (HA) patients develop inhibitory alloantibodies to factor VIII:C and therefore require bypass agents that are scarce, expensive and may provoke secondary effects. Twenty-three severe HA patients who were high-responders to FVIII inhibitors were studied. FVIII:C activity in plasma was measured by one-stage activated partial thromboplastin time method, and the quantification of FVIII:C inhibitors was carried out by the Nijmegen-Bethesda method.

Frequency of intron 1 and 22 inversions of Factor VIII gene in Mexican patients with severe hemophilia A.

Hemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients.

[Usefulness of prothrombin fragment 1 + 2 and fibrin dimer in the detection of hypercoagulation in obstetrical patients with thrombosis risk factors].

We measured prothrombin 1 + 2 fragment (f1 + 2p) and dimer D (dD) in plasma from 100 pregnant women at high risk for thromboembolic disease (TED) and in 23 non-pregnant control. Measures of f1 + 2p were made by immunoassay analysis in 75 patients and dD by semiquantitative analysis of plate agglutination in 97 cases. F1 + 2p was significantly elevated in 85% of cases, but its levels was not predictive value for TED.