Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 31
Filtrar
1.
Rev Esp Anestesiol Reanim (Engl Ed) ; 68(10): 597-601, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34810152

RESUMEN

Iatrogenic tracheal rupture (ITR) is a serious complication secondary to procedures such as emergent orotracheal intubation or tracheostomy, among others. The management of ITR depends on the size, extension and location of the injury, along with the patient's respiratory status and comorbidities. The priority of treatment is to keep the airway permeable to ensure adequate ventilation. We present the case of a tracheal rupture after performing a percutaneous tracheostomy, in a patient diagnosed with severe acute respiratory distress syndrome secondary to bilateral interstitial pneumonia due to SARS-Cov-2. The issues are discussed, such as the management (conservative vs. surgical) depending on the features of the injury and the patient, in the extraordinary context that the COVID-19 pandemic has entailed.


Asunto(s)
COVID-19 , Síndrome de Dificultad Respiratoria , Humanos , Enfermedad Iatrogénica , Pandemias , Síndrome de Dificultad Respiratoria/etiología , Rotura , SARS-CoV-2 , Tráquea/diagnóstico por imagen
2.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33845992

RESUMEN

Iatrogenic tracheal rupture is a serious complication secondary to procedures such as emergent orotracheal intubation or tracheostomy, among others. The management of iatrogenic tracheal rupture depends on the size, extension and location of the injury, along with the patient's respiratory status and comorbidities. The priority of treatment is to keep the airway permeable to ensure adequate ventilation. We present the case of a tracheal rupture after performing a percutaneous tracheostomy, in a patient diagnosed with severe acute respiratory distress syndrome secondary to bilateral interstitial pneumonia due to SARS-CoV-2. The issues are discussed, such as the management (conservative vs. surgical) depending on the features of the injury and the patient, in the extraordinary context that the COVID-19 pandemic has entailed.

3.
J Immunol Res ; 2019: 8063983, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31183392

RESUMEN

Acute coronary syndrome (ACS) can be triggered by the presence of inflammatory factors which promote the activation of immune cells by costimulatory molecules such as CD40 and its ligand CD40L. Environmental and genetic factors are involved in the etiology of the ACS. The aim of this study was to explore the gene and protein expression associated with CD40 and CD40L genetic variants in ACS patients from the western Mexican population. A total of 620 individuals from western Mexico were recruited: 320 ACS patients and 300 individuals without a history of ischemic cardiopathy were evaluated. The genotype was determined using TaqMan SNP genotyping assays. CD40 and CD40L expressions at the mRNA level were quantified using TaqMan Gene Expression Assays. Soluble protein isoforms were measured by enzyme-linked immunosorbent assay. We did not find evidence of association between CD40 (rs1883832, rs4810485, and rs11086998) and CD40L (rs3092952 and rs3092920) genetic variants and susceptibility to ACS, although rs1883832 and rs4810485 were significantly associated with high sCD40 plasma levels. Plasma levels of sCD40L can be affected by gender and the clinical spectrum of acute coronary syndrome. Our results do not suggest a functional role of CD40 and CD40L genetic variants in ACS. However, they could reflect the inflammatory process and platelet activation in ACS patients, even when they are under pharmacological therapy. Due to the important roles of the CD40-CD40L system in the pathogenesis of ACS, longitudinal studies are required to determine if soluble levels of CD40 and CD40L could be clinically useful markers of a recurrent cardiovascular event after an ACS.


Asunto(s)
Síndrome Coronario Agudo/genética , Antígenos CD40/genética , Ligando de CD40/genética , Genotipo , ARN Mensajero/genética , Anciano , Biomarcadores , Antígenos CD40/sangre , Ligando de CD40/sangre , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Transcriptoma
4.
Rev. esp. anestesiol. reanim ; 66(5): 292-295, mayo 2019. ilus
Artículo en Español | IBECS | ID: ibc-187474

RESUMEN

La osificación del ligamento anterior longitudinal vertebral, conocida como enfermedad de Forestier o hiperostosis esquelética idiopática difusa, es una enfermedad que suele cursar de forma asintomática. Se produce sobre todo en la región torácica, seguida por la lumbar y cervical. Cuando existe afectación cervical, en caso de producir clínica, los síntomas más frecuentes son disfagia, disnea o disfonía y, de forma excepcional, obstrucción aguda de la vía aérea. Este proceso patológico supone un reto anestésico en el manejo de la vía aérea de estos pacientes. Por ello presentamos el caso de un paciente de 85 años con obstrucción aguda de vía aérea asociada a enfermedad de Forestier, al que se le realizó intubación mediante fibroscopio bajo anestesia inhalada con sevoflurano manteniendo ventilación espontánea para la posterior realización de traqueotomía por los otorrinolaringólogos


Ossification of the anterior longitudinal ligament of the spine, known as Forestier disease or diffuse idiopathic skeletal hyperostosis, is usually an asymptomatic disorder. The area most frequently affected is the thoracic spine, followed by lumbar and cervical regions. In the case of cervical involvement with clinical manifestations, the most common symptoms include dysphagia, dyspnoea, dysphonia, and can exceptionally cause an acute airway obstruction. The airway management of these patients represents a great anaesthetic challenge. The case is reported of an eighty-five-year-old patient who had an acute airway obstruction associated with Forestier disease. A fibre-optic-assisted intubation was accomplished under sevoflurane inhaled anaesthesia, maintaining spontaneous ventilation, with subsequent tracheostomy performed by ENT surgeons


Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Obstrucción de las Vías Aéreas/diagnóstico , Hiperostosis Esquelética Difusa Idiopática/complicaciones , Intubación Intratraqueal/métodos , Traqueotomía/métodos , Resultado del Tratamiento , Antiinflamatorios/uso terapéutico , Relajantes Musculares Centrales/uso terapéutico , Delirio/diagnóstico
5.
Rev Esp Anestesiol Reanim (Engl Ed) ; 66(5): 292-295, 2019 May.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30665800

RESUMEN

Ossification of the anterior longitudinal ligament of the spine, known as Forestier disease or diffuse idiopathic skeletal hyperostosis, is usually an asymptomatic disorder. The area most frequently affected is the thoracic spine, followed by lumbar and cervical regions. In the case of cervical involvement with clinical manifestations, the most common symptoms include dysphagia, dyspnoea, dysphonia, and can exceptionally cause an acute airway obstruction. The airway management of these patients represents a great anaesthetic challenge. The case is reported of an eighty-five-year-old patient who had an acute airway obstruction associated with Forestier disease. A fibre-optic-assisted intubation was accomplished under sevoflurane inhaled anaesthesia, maintaining spontaneous ventilation, with subsequent tracheostomy performed by ENT surgeons.


Asunto(s)
Obstrucción de las Vías Aéreas/etiología , Hiperostosis Esquelética Difusa Idiopática/complicaciones , Enfermedad Aguda , Anciano de 80 o más Años , Humanos , Masculino
6.
Clin Rheumatol ; 37(2): 345-353, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28963582

RESUMEN

The objective of this study was to determine the association of the CD40LG 3'-UTR (CA)n microsatellite with rheumatoid arthritis (RA) and CD40LG mRNA levels in females from western Mexico. A case-control study with 219 RA patients and 175 control subjects (CS) was conducted. Genotyping was performed by polymerase chain reaction (PCR), X 2 test was used to compare genotype and allele frequencies, and odds ratios and 95% confidence intervals were calculated to evaluate the association between RA and the microsatellite. CD40LG mRNA expression was assessed by real-time quantitative PCR. For comparisons between groups, Kruskal-Wallis or Mann-Whitney U tests for non-parametric data and ANOVA test for parametric data were performed. Among the 13 different alleles identified, CA25 was the most represented (45.4% RA and 46.3% CS). Stratification according to CA repeats as CA25 showed a tendency towards a higher frequency of >CA25 alleles in RA patients (29%) compared to CS (23.4%). There was no association between any genotype and the clinical parameters of RA patients. According to the 2-∆∆Cq method, CD40LG mRNA expression in RA patients was 4.5-fold higher compared to CS; this difference was significant when assessed by the 2-∆Cq method (p = 0.028). Compared to carriers of the CA25/CA25 genotype, CS carrying the CA25/>CA25 carriers. The 3'-UTR CD40LG (CA)n microsatellite is not a genetic marker for RA in western Mexican population; however, results suggest that it plays a role in the CD40LG mRNA expression.


Asunto(s)
Regiones no Traducidas 3' , Artritis Reumatoide/diagnóstico , Ligando de CD40/genética , Marcadores Genéticos , Repeticiones de Microsatélite , Adulto , Alelos , Artritis Reumatoide/genética , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , México , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , ARN Mensajero/genética
7.
Genet Mol Res ; 16(3)2017 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-28973758

RESUMEN

Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polymorphisms to determine the association of rs4340 polymorphisms of the ACE gene and ACE circulating levels in ACS. Genotyping of rs4340 polymorphisms was performed in a total of 600 individuals from Western Mexico divided into two groups: the ACS and the control group (CG). The polymorphisms were identified by polymerase chain reaction. Serum ACE concentration was determined by enzyme-linked immunosorbent assay. D/D carriers had higher ACE levels than I/I carriers (3.6 vs 2.8 ng/mL, P < 0.0021) in the CG. The D/D genotype of the rs4340 polymorphism is associated with higher ACE concentration levels; however, the polymorphism was not associated with ACS.


Asunto(s)
Síndrome Coronario Agudo/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo de Nucleótido Simple , Síndrome Coronario Agudo/sangre , Anciano , Estudios de Casos y Controles , Femenino , Genotipo , Heterocigoto , Humanos , Masculino , México , Persona de Mediana Edad , Peptidil-Dipeptidasa A/sangre
8.
Cytokine ; 95: 88-96, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28254559

RESUMEN

Interleukin 10 (IL-10) is an immunomodulatory cytokinethat plays a central rolein the pathogenesis of autoimmune diseases. Different studies consistently show increased IL-10 serum levels in rheumatoid arthritis (RA) and it appears to be caused by genetic variants. Three polymorphisms situated at positions -1082, -819 and -592 of IL10 gene and its major haplotypes have been associated with regulating IL10 promoter activity. In this study, we evaluated whether IL10 haplotypes are associated with mRNA expression and IL-10 serum levels as well as susceptibility to RA in a Western Mexican population. A total of 240 RA patients and 240 control subjects (CS) were included. Genotyping of IL10 polymorphisms was performed by PCR and PCR-RFLP, respectively. IL10 mRNA expression was determined by real-time PCR and IL-10 serum levels were measured using an ELISA kit. IL10 mRNA expression was 50-fold higher in RA patients than CS (p<0.001), while IL-10 serum levels did not show differences between groups. However, high IL-10 serum levels were positively related to a higherseropositivityfor rheumatoid factor (FR) and anti-CCP antibodies (p<0.05). No significant differences between the distribution of haplotype frequencies were observed between both study groups, but GCC haplotype was associated with higher IL-10 serum levels compared with the ACC and ATA haplotypes in RA patients (p<0.05). In addition, patients carrying ATA and GCC haplotypes showed higher mRNA expression than ACC (5.4-fold and 8.8-fold, respectively) and surprisingly, this trend was reversed in the controls, although it was not significant. In conclusion, our findings suggest that IL10 (GCC, ACC, and ATA) haplotypes may not be a susceptibility marker for RA in a population from Western Mexico. Nevertheless, independently of the presence of these variants, there is an aberrant overexpression of IL10 gene in RA, and it may play an important role in the pathogenesis of RA.


Asunto(s)
Artritis Reumatoide/genética , Interleucina-10/genética , Adulto , Anciano , Artritis Reumatoide/inmunología , Autoanticuerpos/sangre , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Haplotipos , Humanos , Interleucina-10/sangre , Masculino , Persona de Mediana Edad
9.
Genet Mol Res ; 15(4)2016 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-27813548

RESUMEN

The CD40 pathway is involved in the development and pathogenesis of autoimmune diseases, including rheumatoid arthritis (RA). Two single nucleotide polymorphisms (SNPs) in the CD40 gene, rs1883832 and rs4810485, are associated with susceptibility to inflammatory and autoimmune diseases and are thought to alter CD40 expression at the mRNA and protein level. This study assessed for the first time the association of these SNPs with RA and CD40 mRNA levels in a western Mexican population. A total of 278 RA patients and 318 control subjects were included. Genotyping was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, and CD40 mRNA expression was determined by real-time quantitative PCR. No significant differences in genotype and allele frequencies were identified between the RA patients and controls. When stratified by genotype, these SNPs were not found to be associated with the presence of autoantibodies or the clinical activity of the disease. CD40 mRNA levels were elevated 1.5-fold in RA patients compared to control subjects; however, no clear tendencies were observed following stratification by genotype. These results suggest that the CD40 SNPs rs1883832 and rs4810485 are not RA susceptibility markers in the western Mexican population. Further studies are needed to clarify their roles in CD40 mRNA expression.


Asunto(s)
Artritis Reumatoide/genética , Antígenos CD40/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Adulto , Anciano , Artritis Reumatoide/patología , Antígenos CD40/biosíntesis , Femenino , Regulación de la Expresión Génica , Genotipo , Humanos , Masculino , México , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , ARN Mensajero/biosíntesis , ARN Mensajero/genética
10.
Genet Mol Res ; 15(4)2016 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-27819740

RESUMEN

Interleukin 10 (IL-10) is an immunoregulatory cytokine with multiple roles in the immune system. Three single nucleotide polymorphisms at positions -1082 (A>G), -819 (C>T), and -592 (C>A) in the promoter region of the IL10 gene are believed to be associated with different inflammatory, infectious, and autoimmune diseases. These polymorphisms exhibit a strong linkage disequilibrium (LD) and form three principal haplotypes (GCC, ACC, and ATA). The GCC and ATA haplotypes have been associated with high and low levels of IL-10 production, respectively. The aim of this study was to establish the allele and haplotype frequencies of the IL10 polymorphisms in Mestizos from western Mexico. SNPs were analyzed in 340 healthy unrelated Mestizos from western Mexico by polymerase chain reaction-restriction fragment length polymorphism. The studied population presented significant differences, in the distribution of IL10 polymorphisms, from the Asian, African, and European populations. We also observed a strong LD within -1082 A>G, -819 C>T, and -592 C>A (100% pc = 7.735 x 10-18). The haplotypes ACC (45.4%), ATA (22.0%), GTA (14.9%), and GCC (13.9%) were most frequently observed in this population. The haplotype frequencies, however, differed from those reported previously in Mestizos from central Mexico, Asians, Africans, and European Caucasians, suggesting a differential gene flow in the Mexican Mestizo population. This could account for the genetic variability between Mexicans and populations of other ethnicities. The study of these polymorphisms and their haplotypes could help in expanding our knowledge to design future disease-risk studies on the western Mexican population.


Asunto(s)
Frecuencia de los Genes , Haplotipos/genética , Interleucina-10/genética , Polimorfismo de Nucleótido Simple/genética , Alelos , Etnicidad/genética , Humanos , Desequilibrio de Ligamiento/genética , México , Regiones Promotoras Genéticas/genética
11.
Hum Immunol ; 76(7): 473-9, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26074416

RESUMEN

Primary Sjögren's syndrome (pSS) is an autoimmune disease characterized by lymphocytic infiltration of salivary and lacrimal glands. Interleukin-10 (IL-10) plays a role in autoimmune diseases by promoting B-cell activation and autoantibodies production. IL10-1082A>G, -819C>T, -592C>A polymorphisms and their haplotypes have been associated with IL-10 production. The aim of this study was to associate IL10 haplotypes with mRNA expression and soluble IL-10 levels with susceptibility to pSS in 111 Mexican patients and 111 healthy subjects (HS). Primary Sjögren's syndrome patients showed high levels of sIL-10 (p=0.0001 vs HS) correlating with anti-Ro and anti-La antibodies (p<0.05). In addition, IL10 mRNA expression in pSS was higher than HS (0.8 vs 0.1, p=0.1537). However, no difference was observed in sIL-10 levels between haplotypes. Patients carriers of GCC haplotype showed higher mRNA expression than ACC+ATA (1.4 vs 0.6, p=0.2424) and high foci number (p=0.04 vs ACC). Our results suggest a strong relationship of IL10 with pSS which is demonstrated by the increased mRNA expression and also high sIL-10 levels positively correlated with autoantibodies. Besides that, the GCC haplotype carriers expressed high mRNA. However, IL10 haplotypes were not associated with sIL-10 in pSS from Western Mexico which suggest that diverse biological factors may regulate the IL10 expression in pSS.


Asunto(s)
Autoanticuerpos/sangre , Haplotipos , Interleucina-10/genética , ARN Mensajero/análisis , Síndrome de Sjögren/genética , Adulto , Anciano , Femenino , Humanos , Interleucina-10/sangre , Masculino , Persona de Mediana Edad , Síndrome de Sjögren/etiología
12.
Genet Mol Res ; 13(3): 6752-8, 2014 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-25177955

RESUMEN

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males.


Asunto(s)
Enfermedad de Fabry/genética , Salud de la Familia , Tamización de Portadores Genéticos/métodos , Linaje , Adolescente , Adulto , Niño , Preescolar , Enfermedad de Fabry/diagnóstico , Familia , Femenino , Heterocigoto , Humanos , Masculino , México , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Adulto Joven
13.
Genet Mol Res ; 13(4): 8561-7, 2014 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-24615093

RESUMEN

Polymorphisms in the FTO gene are associated with obesity, body mass index, hip circumference, and visceral and subcutaneous fat area. The objective of this study was to analyze the association of the FTO rs17817449 genetic variant (T>G polymorphism) with body fat distribution patterns in women. We included 65 women and 71 healthy subjects in this study. Anthropometric parameters were determined and laboratory studies were performed. The polymorphism was detected by a PCR-RFLP method. The groups were categorized by type of body fat distribution: gynoid (N = 29) and android (N = 36). We found that the FTO gene polymorphism was not associated with body fat distribution according to the type of obesity (P > 0.05). The contribution of G and T alleles among groups indicated no statistically significant differences between the reference and gynoid group [P = 0.93; odds ratio (OR) = 0.97; 95% confidence interval (CI) = 0.46-2.02] and the reference and android group (P = 0.56; OR = 1.20; 95%CI = 0.54-2.82). Thorax circumference and thorax breast circumference were significantly different between the two groups (P = 0.009 and 0.021, respectively) with the genotype TT. We conclude that the FTO rs17817449 TT genotype predisposes individuals to fat deposition in the thoracic and breast region; individuals carrying this genotype had a decrease in thoracic and breast dimensions indirectly causing the gynoid phenotype in Mexican women.


Asunto(s)
Adiposidad/genética , Distribución de la Grasa Corporal , Estudios de Asociación Genética , Polimorfismo de Nucleótido Simple , Proteínas/genética , Adulto , Alelos , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , México , Persona de Mediana Edad , Factores de Riesgo
14.
Indian J Nephrol ; 23(6): 438-43, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24339523

RESUMEN

Oxidative stress is increased in chronic kidney disease, owing to an imbalance between the oxidative and antioxidant pathways as well as a state of persistent hyperhomocysteinemia. The enzymes glutathione S-transferases (GSTs) and methylenetetrahydrofolate reductase (MTHFR) are implicated in the regulation of these pathways. This study investigates the association between polymorphisms in the Glutathione S-transferase Mu 1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), and MTHFR genes and end-stage renal disease (ESRD) of unknown etiology in patients in Mexico. A Case-control study included 110 ESRD patients and 125 healthy individuals. GSTM1 and GSTT1 genotypes were determined using the multiplex polymerase chain reaction (PCR). The MTHFR C677T polymorphism was studied using a PCR/restriction fragment length polymorphism method. In ESRD patients, GSTM1 and GSTT1 null genotype frequencies were 61% and 7% respectively. GSTM1 genotype frequencies differed significantly between groups, showing that homozygous deletion of the GSTM1 gene was associated with susceptibility to ESRD of unknown etiology (P = 0.007, odds ratios = 2.05, 95% confidence interval 1.21-3.45). The MTHFR C677T polymorphism genotype and allele distributions were similar in both groups (P > 0.05), and the CT genotype was the most common genotype in both groups (45.5% and 46.6%). Our findings suggest that the GSTM1 null polymorphism appears to be associated with the ESRD of unknown etiology in patients in Mexico.

15.
Genet Mol Res ; 12(4): 4413-21, 2013 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-24222221

RESUMEN

Oral anticoagulants of the coumarin type have an inconveniently narrow therapeutic window, making their use difficult. In Mexico, genetic variables that participate in the heterogeneity of the therapeutic response remain poorly investigated. With the focus on warfarin, extensive pharmacogenomic studies have been performed, including those on the CYP450 family and APOE. The objective of this study was to determine the contribution of CYP2C9, CYP2C19, and APOE polymorphisms to the variations in response to the doses of acenocoumarol, which is the main anticoagulant prescribed to the Mexican population. The polymerase chain reaction-restriction fragment length polymorphism method was applied to identify 2 and 3 of CYP2C9, 2 of CYP2C19, and APOE variants. The genetic distribution of every polymorphism tested showed high variability when compared with other populations worldwide. Our results showed statistical differences only in the CYP2C19 gene between the 1 1 and 1 2 groups, with effective acenocoumarol doses of 2.56 ± 1.34 mg/day vs 1.35 ± 0.84 mg/day (P = 0.005), respectively. Multiple regression analysis, including patient age and both the CYP2C9 and CYP2C19 genes, showed that these variables explained more than 20% of the dose variations. This is the first report in Mexico searching for the relationship between CYP450 and APOE polymorphisms and the dose requirements of acenocoumarol. Our results suggest that, in the Mexican population, CYP2C19 is more involved in acenocoumarol metabolism than CYP2C9 and APOE. Besides considering the age factor, pharmacogenetic testing for CYP2C19 2 before initiating acenocoumarol treatment could lead to a safer anticoagulation therapy in Mexican patients.


Asunto(s)
Acenocumarol/farmacología , Anticoagulantes/farmacología , Apolipoproteínas E/genética , Hidrocarburo de Aril Hidroxilasas/genética , Polimorfismo de Nucleótido Simple , Acenocumarol/metabolismo , Acenocumarol/uso terapéutico , Adulto , Anciano , Anticoagulantes/metabolismo , Anticoagulantes/uso terapéutico , Enfermedades Cardiovasculares/tratamiento farmacológico , Enfermedades Cardiovasculares/genética , Citocromo P-450 CYP2C19 , Citocromo P-450 CYP2C9 , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Humanos , Inactivación Metabólica , Masculino , Persona de Mediana Edad
16.
Genet Mol Res ; 12(3): 2821-8, 2013 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-24065638

RESUMEN

Recombination patterns can be indirectly inferred by means of linkage disequilibrium (LD) estimates, since LD is negatively correlated with genetic distance. However, LD does not necessarily have absolute correspondence with genetic distance. We estimated LD at 5 loci located in the 21q22.3 region. These STRs (D21S1440, D21S168, D21S1260, D21S1446, and D21S1411) covered 8.81 Mb of the 21q22.3 region. They were genotyped by conventional PCR. Similar size samples previously validated by sequencing were used as a genotyping control. Three hundred and sixty-nine individuals (62 families) living in Guadalajara, Mexico, were included. As an inclusion criterion, each family had a positive paternity test by autosomal markers for the CODIS core loci. Two hundred and thirty phase known haplotypes were identified by familial segregation. Only those haplotypes whose frequency was higher than 4% were taken into account for LD estimation, expressed as Lewontin's D' coefficient and Bonferroni's correction P values. For all 5 loci, the genetic distributions were in agreement with Hardy-Weinberg expectations. Heterozygosity and haplotype diversity were ≥ 0.69 and 99.58%, respectively. D21S1440-D21S168 (4.51 cM) and D21S1446-D21S1411 (4.58 cM) marker haplotype frequencies were significantly different from those expected by random distribution. The remaining haplotypes, including those with minimal inter-distance (D21S1260-D21S1446, 1.44 Mb), did not show LD. The 5 STRs at the 21q22.3 region in this Mexican population showed a non-homogeneous LD pattern, which demonstrates that recombination or linkage should not be assumed solely on the basis of genetic distance.


Asunto(s)
Síndrome de Down/genética , Desequilibrio de Ligamiento , Repeticiones de Microsatélite/genética , Recombinación Genética , Alelos , Mapeo Cromosómico , Genotipo , Haplotipos/genética , Heterocigoto , Humanos , México , Polimorfismo de Nucleótido Simple/genética , Análisis de Regresión
17.
Cytokine ; 61(3): 759-65, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23402792

RESUMEN

Macrophage migration inhibitory factor (MIF) is an upstream pro-inflammatory cytokine that is associated with the pathogenesis of autoimmune inflammatory diseases including rheumatoid arthritis (RA). Two polymorphisms in the upstream region exist in the MIF gene and are associated with RA susceptibility or severity in different populations. In this case-control study, we investigated whether MIF polymorphisms are associated with RA susceptibility or activity in a western Mexican population .The relationship of MIF levels with clinical features of disease also was assessed. Genotyping of the -794 CATT5-8 (rs5844572) and the -173 G>C (rs755622) polymorphisms was performed by PCR and PCR-RFLP respectively on 226 RA patients and 210 healthy subjects. Serum MIF levels were determined by ELISA. We found a significant association between the -794 CATT5-8 6,7 MIF genotype with RA. Moreover, we detected an association between the -794 CATT7 allele with early onset RA. The -794 CATT7 and -173(*)C alleles, which are in linkage disequilibrium, were associated with high disease activity on RA patients. A positive correlation between circulating MIF levels and C-reactive protein, erythrocyte sedimentation rate, rheumatoid factor, anti-citrullinated protein/peptides antibodies and TNFα was detected. MIF levels appear to be associated with disease progression rather than disease activity, which is distinct from the established relationship between disease activity and TNFα levels. In conclusion, the MIF gene and protein are associated with RA in a western Mexican population, with a main contribution onto early onset and early stages of disease.


Asunto(s)
Artritis Reumatoide/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Oxidorreductasas Intramoleculares/genética , Factores Inhibidores de la Migración de Macrófagos/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/sangre , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Haplotipos/genética , Humanos , Oxidorreductasas Intramoleculares/sangre , Factores Inhibidores de la Migración de Macrófagos/sangre , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Regiones Promotoras Genéticas/genética , Factor de Necrosis Tumoral alfa/sangre , Adulto Joven
19.
Reumatismo ; 63(3): 165-70, 2011 Nov 09.
Artículo en Italiano | MEDLINE | ID: mdl-22257917

RESUMEN

OBJECTIVE: Fibromyalgia (FM) is characterized by the presence of chronic widespread pain throughout the musculoskeletal system and diffuse tenderness. Unfortunately, no laboratory tests have been appropriately validated for FM and correlated with the subsets and activity. The aim of this study was to apply a proteomic technique in saliva of FM patients: the Surface Enhance Laser Desorption/Ionization Time-of-Flight (SELDI-TOF). METHODS: For this study, 57 FM patients and 35 HC patients were enrolled. The proteomic analysis of saliva was carried out using SELDI-TOF. The analysis was performed using different chip arrays with different characteristics of binding. The statistical analysis was performed using cluster analysis and the difference between two groups was underlined using Student's t-test. RESULTS: Spectra analysis highlighted the presence of several peaks differently expressed in FM patients compared with controls. The preliminary results obtained by SELDI-TOF analysis were compared with those obtained in our previous study performed on whole saliva of FM patients by using electrophoresis. The m/z of two peaks, increased in FM patients, seem to overlap well with the molecular weight of calgranulin A and C and Rho GDP-dissociation inhibitor 2, which we had found up-regulated in our previous study. CONCLUSION: These preliminary results showed the possibility of identifying potential salivary biomarker through salivary proteomic analysis with MALDI-TOF and SELDI-TOF in FM patients. The peaks observed allow us to focus on some of the particular pathogenic aspects of FM, the oxidative stress which contradistinguishes this condition, the involvement of proteins related to the cytoskeletal arrangements, and central sensibilization.


Asunto(s)
Fibromialgia/metabolismo , Proteómica/métodos , Proteínas y Péptidos Salivales/análisis , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodos , Espectrometría de Masas en Tándem/métodos , Adulto , Biomarcadores/análisis , Electroforesis en Gel Bidimensional , Femenino , Fibromialgia/diagnóstico , Fibromialgia/epidemiología , Humanos , Masculino , Trastornos Mentales/epidemiología , Persona de Mediana Edad , Estrés Oxidativo , Índice de Severidad de la Enfermedad , Tiroiditis Autoinmune/epidemiología , Xerostomía/epidemiología , Inhibidor beta de Disociación del Nucleótido Guanina rho/análisis
20.
Rev. habanera cienc. méd ; 10(2)abr.-jun. 2011. ilus
Artículo en Español | CUMED | ID: cum-50643

RESUMEN

La Dra Nereyda Riesgo Lobaina se consagró hasta sus últimos días al ejercicio de su profesión, a la enseñanza de la Estomatología, tanto en la docencia pre-grado, como en la de postgrado relacionada con su especialidad Periodontología, con una experiencia como docente de 41 años. Al fallecer, era Especialista de Segundo Grado en Periodontología, Profesora Auxiliar y Consultante de la Facultad de Estomatología del Instituto Superior de Ciencias Médicas de La Habana y Master en Urgencias en Estomatología, así como Miembro Titular de la Sociedad Cubana de Estomatología y Fundadora de la Sociedad Cubana de Periodontología e integrante de su Junta Directiva. Revolucionaria integra e intachable, se destacó por su ejemplaridad e intransigencia revolucionaria...


Asunto(s)
Humanos , Femenino , Personajes , Enseñanza , Odontología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA