PubMed | National Polytechnic Institute of Mexico, Subdireccion de Ensenanza y Capacitacion, Laboratorio Of Medicina Genomica, Servicio de Electromiografia y Distrofia Muscular and 2 more.
Type: Journal Article | Journal: Muscle & nerve | Year: 2016
In this study, we determined normal levels of dysferlin expression in CD14Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software.The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut-off points, which allowed definition of 4 disease classification groups in a simplified algorithm.The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54: 1064-1071, 2016.
PubMed | Instituto Nacional Of Rehabilitacion Inr, National Polytechnic Institute of Mexico, Instituto Mexicano del Seguro Social IMSS and Laboratorio Central Of Patologia Clinica
Type: Journal Article | Journal: Cirugia y cirujanos | Year: 2015
Von Willebrand disease is the most common inherited disorder of the coagulation proteins in humans. There are three types: 1, 2A, 2B, 2N, 2M and 3. It is associated with mutations on chromosome 12 in the region p13.2, encoding the von Willebrand factor (VWF), which is synthesized in endothelial cells and megakaryocytes.The VWF gene has been characterised using molecular biology techniques, which have acquired an important role in diagnosis von Willebrand disease, as well as in the investigation of alterations in other genes, which may be involved in regulating the synthesis, processing, and secretion of VWF. However, there are still no strategies to integrate the molecular biology diagnostic tests available. Analysis of VWF multimers is a methodology that meets the characteristics for diagnosis, but it is not easy to standardise. Considering that even in tertiary centres in our country, von Willebrand patients do not have a definitive diagnosis, it is necessary to implement these methodologies to study and improve diagnosis.Von Willebrand disease is highly heterogeneous due to the molecular mechanisms that produce the various clinical and laboratory phenotypes. In Mexico there are few studies related to this disease; therefore it is essential to conduct a comprehensive study including clinical, basic, and special testing laboratory tests, in order to establish a correct diagnosis, develop new therapeutic approaches, and offer the appropriate medical care and genetic counselling.
PubMed | Instituto Nacional Of Pediatria Inp, Autonomous University of Tamaulipas, National Autonomous University of Mexico, Metropolitan Autonomous University and 2 more.
Type: | Journal: Reproductive toxicology (Elmsford, N.Y.) | Year: 2016
This study evaluated the effects of thiamine pyrophosphate (PPT) on the biochemical profiles of full-term rabbit foetuses that were subjected to experimental ischemia followed by 24h reperfusion. A total of 16 gestating rabbit dams were divided into two groups, one of which was treated by administering PPT and subjected to a process ischemia. During this interval, fetal blood samples were drawn from each dam (in the ischemia group) at 0, 15 and 45min. Ischemia for 15 and 45min was not associated with changes in lactate levels of the Ischemia group foetuses. However, in the foetuses in the reperfusion groups without PPT lactate levels were significantly higher after 15 and 45min of arterial occlusion compared to time zero. These results demonstrate that PTT alters some acute and some longer-term biochemical outcomes of uterine ischemia perhaps important in preserving energy metabolism under hypoxic conditions.
Castillo J.A.,Metropolitan Autonomous University |
Suarez O.Y.,Metropolitan Autonomous University |
Brust Carmona H.,Instituto Nacional Of Rehabilitacion Inr
Revista Mexicana de Ingenieria Biomedica | Year: 2016
The hypothesis that the brain works using glial-neuronal networks that are responsible for sensory, motor and cognitive processes has been proposed in the neuroscience literature. Graph theory offers mathematical models to describe these complex networks from simple abstractions such as nodes and connecting edges. In this work, usign signal processing techniques to the analysis of functional connectivity between neuronal emsembles derived from EEG measurements through theory graph. Procedures for the analysis of connectivity are described, from multichannel record processing and conditioning, computation of wideband power spectral density, determination of connectivity measures between electrodes, and parameter estimation of the resulting complex networks. EEG recordings from fifty subjects were analyzed in intervals before (pre) and during repeated photostimulation (Rph). Based on the statistical significance of the response during Rph, desynchronization/synchronization (D/S) in alfa band, and its wide distribution in corticals areas, the participants were divided into three groups: G1, G2 and G3. The slope D/S in alfa band was significant in 16 of 16 regions (G1), 12 of 16 (G2) and 5 of 16 (G3). The functional connectivity depicted the same trend as these changes, whereas in the delta, theta and beta bands occurred no modifications. D is related to activation and S with inhibition, supporting the hypothesis of alfa-band's participation in the cognitive process of habituation to photostimulation.
Borgonio Cuadra V.M.,Instituto Nacional Of Rehabilitacion Inr |
Gonzalez-Huerta N.C.,Instituto Nacional Of Rehabilitacion Inr |
Romero-Cordoba S.,Instituto Nacional Of Medicina Genomica Inmegen |
Hidalgo-Miranda A.,Instituto Nacional Of Medicina Genomica Inmegen |
Miranda-Duarte A.,Instituto Nacional Of Rehabilitacion Inr
PLoS ONE | Year: 2014
Objective: To analyze a set of circulating microRNA (miRNA) in plasma from patients with primary Osteoarthritis (OA) and describe the biological significance of altered miRNA in OA based on an in silico analysis of their target genes. Methods: miRNA expression was analyzed using TaqMan Low Density Arrays and independent assays. The search for potential messenger RNA (mRNA) targets of the differentially expressed miRNA was performed by means of the miRWalk and miRecords database; we conducted the biological relevance of the predicted miRNA targets by pathway analysis with the Reactome and DAVID databases. Results: We measured the expression of 380 miRNA in OA; 12 miRNA were overexpressed under the OA condition (p value, ≤0.05; fold change, >2). These results were validated by the detection of some selected miRNA by quantitative PCR (qPCR). In silico analysis showed that target messenger RNA (mRNA) were potentially regulated by these miRNA, including genes such as SMAD1, IL-1B, COL3A, VEGFA, and FGFR1, important in chondrocyte maintenance and differentiation. Some metabolic pathways affected by the miRNA: mRNA ratio are signaling Bone morphogenetic proteins (BMP), Platelet-derived growth factor (PDGF), and Nerve growth factor (NGF), these latter two involved in the process of pain. Conclusions: We identified 12 miRNA in the plasma of patients with primary OA. Specific miRNA that are altered in the disease could be released into plasma, either due to cartilage damage or to an inherent cellular mechanism. Several miRNA could regulate genes and pathways related with development of the disease; eight of these circulating miRNA are described, to our knowledge, for first time in OA. © 2014 Borgonio Cuadra et al.
Leyva-Gomez G.,Instituto Nacional Of Rehabilitacion Inr |
Cortes H.,Instituto Nacional Of Rehabilitacion Inr |
Magana J.J.,Instituto Nacional Of Rehabilitacion Inr |
Leyva-Garcia N.,Instituto Nacional Of Rehabilitacion Inr |
And 2 more authors.
Drug Discovery Today | Year: 2015
The absence of a definitive treatment for Parkinson's disease has driven the emerging investigation in the search for novel therapeutic alternatives. At present, the formulation of different drugs on nanoparticles has represented several advantages over conventional treatments. This type of multifunctional carrier, owing to its size and composition, has different interactions in biological systems that can lead to a decrease in ability to cross the blood-brain barrier. Therefore, this review focuses on the latest advances in obtaining nanoparticles for Parkinson's disease and provides an overview of technical aspects in the design of brain drug delivery of nanoparticles and an analysis of surface phenomena, a key aspect in the development of functional nanoparticles for Parkinson's disease. © 2015 Elsevier Ltd.
Borgonio-Cuadra V.M.,Instituto Nacional Of Rehabilitacion Inr |
Gonzalez-Huerta C.,Instituto Nacional Of Rehabilitacion Inr |
Duarte-Salazar C.,Instituto Nacional Of Rehabilitacion Inr |
De Los Angeles Soria-Bastida M.,Instituto Nacional Of Rehabilitacion Inr |
And 2 more authors.
Rheumatology International | Year: 2012
The aim of this work was to test the association between estrogen receptor a gene (ERa) polymorphism and primary osteoarthritis (OA) of the knee in Mexican mestizo patients. A case-control study was conducted. Cases were patients >40 years of age, with a body mass index (BMI) ≤27 and radiologic score for OA of the knee of ≥2 according to Kellgren-Lawrence scale, and controls were subjects >40 years age with a radiologic score <2. Two restriction fragment length polymorphisms, PvuII (T/C; rs2234693), and XbaI (A/G; rs9340799), of the ERa were analyzed. Allelic haplotypes were constructed and nonconditional logistic regression was developed to evaluate risk magnitude through odds ratios (ORs) and 95% Confidence intervals (95% CI). Three different allelic haplotypes were identified: TA; CG, and CA. Unadjusted analysis of the haplotypes did not show significant associations; nonetheless, when data were adjusted for gender, age, and BMI, a significant decrease risk was observed for CG haplotype (OR >95% CI]) = 0.5 (0.3-0.9)] (P = 0.04). These results suggest that ERa gene CG haplotype could be associated with a reduced risk of primary knee OA in Mexican mestizo population. © 2011 Springer-Verlag.
PubMed | Instituto Nacional Of Rehabilitacion Inr and National Autonomous University of Mexico
Type: | Journal: International journal of rheumatic diseases | Year: 2015
Asporin is a novel extracellular matrix protein (ECM) with an important role in the development of osteoarthritis (OA), because it has been reported that functional polymorphisms in the aspartic acid repeat (D) of the asporin gene (ASPN) are associated with susceptibility to OA.This study was planned to investigate the association of the ASPN polymorphism with primary OA of the knee in a Mexican population, including several countryside regions.We conducted a case-control study in which 93 cases with primary OA of the knee and 118 controls were included. Cases included patients > 40 years of age, with a body mass index (BMI) 27 and a radiologic score for OA of the knee of 2. Controls were subjects > 40 years of age with a radiologic score of < 2. The D repeat polymorphism was genotyped and logistic regression was developed to evaluate risk magnitude.The D14 allele was more common in our cases and was associated with an increased risk for developing OA, while the frequencies of the remaining alleles did not exhibit differences.Our data suggest that the D14 allele of the ASPN polymorphism could exert an influence on primary OA of the knee etiology in a Mexican Mestizo population.
PubMed | Instituto Nacional Of Rehabilitacion Inr and National Autonomous University of Mexico
Type: Journal Article | Journal: Jornal de pediatria | Year: 2016
Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita.Patients were diagnosed by physical and radiographic examination and the family history was evaluated.Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.). Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted.It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.
PubMed | Instituto Nacional Of Rehabilitacion Inr, CINVESTAV and National Autonomous University of Mexico
Type: Journal Article | Journal: Drug discovery today | Year: 2015
The absence of a definitive treatment for Parkinsons disease has driven the emerging investigation in the search for novel therapeutic alternatives. At present, the formulation of different drugs on nanoparticles has represented several advantages over conventional treatments. This type of multifunctional carrier, owing to its size and composition, has different interactions in biological systems that can lead to a decrease in ability to cross the blood-brain barrier. Therefore, this review focuses on the latest advances in obtaining nanoparticles for Parkinsons disease and provides an overview of technical aspects in the design of brain drug delivery of nanoparticles and an analysis of surface phenomena, a key aspect in the development of functional nanoparticles for Parkinsons disease.