RESUMEN
Our objective was to perform two studies: a cross-sectional study in order to identify the main psychological variables associated to treatment adherence in rheumatoid arthritis and an intervention based on psychoeducation to assess its impact on the variables identified in the first study. We measured treatment adherence, self-efficacy, beliefs about medication, emotional intelligence and disability along with personal and disease variables in the cross-sectional study and the same variables were measured in the intervention before and after the program and 3 months later in 2 groups (an experimental group and an active control group). In the cross-sectional study (N=33) we found that the variables most associated with treatment adherence were emotional clarity (r=0.352, p<0.05) and emotional repair (r=0.363, p<0.05). In the intervention, we divided the patients into 2 groups: the control group (N=7) and the intervention group (N=10). At the end of the study and at follow-up, we found a significant increase in adherence and self-efficacy in the intervention group, when compared with the control group. Emotional clarity was increased only in the post-test, and at follow up a decrease in beliefs of concern about medication was found. Psychoeducational programs based on information about the disease and its treatment together with emotional management are effective in increasing treatment adherence in the long term.
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Artritis Reumatoide , Artritis Reumatoide/tratamiento farmacológico , Estudios Transversales , Inteligencia Emocional , Humanos , Proyectos Piloto , Cumplimiento y Adherencia al TratamientoRESUMEN
Yacon (Smallanthus sonchifolius, Asteraceae) is an ancient andean crop that has numerous dietary and medicinal properties. Morphological and anatomical features and developmental changes of the capitulum were studied. A ray floret is a pistillate, female flower, while a disc floret is a staminate male flower, and the former opens before the latter, being pseudanthium protogynous. The capitulum presents interesting attributes for pollinators such as flower structure, nectaries and pollenkitt. Gynoecial nectaries were found on undeveloped ovary in the disc floret, but not in the ray floret. Glandular trichomes were observed on the abaxial epidermis of corolla in the ray floret, but not in the disc floret. Capitulum development was divided into eight stages. Stigma receptivity varied with these stages. Pollen viability was low (15%). In accordance with low viability, pollen grains exhibit diverse sizes and shapes, reduction in length of spines, and abnormal protoplasm. Examination of ovary development in the ray floret showed that a mature ovule was formed, but fertilization did not occur. In advanced developmental stages, the capitulum showed proliferation of the endothelium, degeneration of the embryo sac, and all harvested cypselae had aborted seeds. Problems found in pollen viability and aborted cypselae could be the result of a history of vegetative propagation in the domestication process.
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Asteraceae/crecimiento & desarrollo , Flores/crecimiento & desarrollo , Argentina , Asteraceae/anatomía & histología , Asteraceae/fisiología , Flores/anatomía & histología , ReproducciónRESUMEN
Primary Sjögren's syndrome (pSS) is a chronic systemic autoimmune disease characterized by lymphocytic infiltration of exocrine glands. Soluble Fas receptor (sFas) has been suggested as a Fas-mediated apoptosis blocker that could impair clonal deletion in infiltrated autoreactive cells. The FAS -670A>G promoter polymorphism has been studied in pSS. However, a relationship between FAS -670A>G promoter polymorphism and sFas levels in pSS had not been found. We examined this relationship in 77 Mexican pSS patients and 84 healthy subjects were included. Genotypes were identified by PCR-RFLP, and Fas soluble levels were quantified by ELISA. No significant differences between allele and genotype frequencies were found between these two groups. The sFas levels in the serum of pSS patients were significantly higher than in controls (9961 vs 8840 pg/mL, respectively). In addition, AA genotype carriers had significantly higher levels of sFas than GG carriers (pSS: 10,763 and 9422 pg/mL; controls: 9712 and 8305 pg/mL, respectively). An additive model analysis between genotypes (AG+GG vs AA) in both groups, demonstrated a significant association between carriers of the A allele and high sFas levels. In conclusion, carrying the double dose of A allele of FAS -670A>G polymorphism is associated with high levels of sFas in pSS, but it is not a susceptibility marker for pSS.
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Polimorfismo Genético , Regiones Promotoras Genéticas , Síndrome de Sjögren/genética , Receptor fas/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Expresión Génica , Frecuencia de los Genes , Genotipo , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Modelos Genéticos , Síndrome de Sjögren/sangre , Síndrome de Sjögren/patología , Solubilidad , Receptor fas/sangreRESUMEN
AIM: To explore if patient global assessment (PGA) is associated with inflammation over time and if associations are explained by other measures of disease activity and function in patients with idiopathic inflammatory myopathies (IIM). METHODS: PGA and systemic inflammatory markers prospectively collected over five years were retrieved from the International MyoNet registry for 1200 patients with IIM. Associations between PGA, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and creatine kinase (CK) were analyzed using mixed models. Mediation analysis was used to test if the association between PGA and inflammatory markers during the first year of observation could be explained by measures of disease activity and function. RESULTS: PGA improved, and inflammatory markers decreased during the first year of observation. In the mixed models, high levels of inflammatory markers were associated with worse PGA in both men and women across time points during five years of observation. In men, but not in women, the association between elevated ESR, CRP and poorer PGA was explained by measures of function and disease activity. With a few exceptions, the association between improved PGA and reduced inflammatory markers was partially mediated by improvements in all measures of function and disease activity. CONCLUSION: Increased levels of systemic inflammation are associated with poorer PGA in patients with IIM. In addition to known benefits of lowered inflammation, these findings emphasize the need to reduce systemic inflammation to improve subjective health in patients with IIM. Furthermore, the results demonstrate the importance of incorporating PGA as an outcome measure in clinical practice and clinical trials.
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Miositis , Masculino , Humanos , Femenino , Estudios Longitudinales , Miositis/complicaciones , Inflamación , Evaluación de Resultado en la Atención de Salud , Sedimentación SanguíneaRESUMEN
Smoldering multiple myeloma (SMM) precedes multiple myeloma (MM). The risk of progression of SMM patients is not uniform, thus different progression-risk models have been developed, although they are mainly based on clinical parameters. Recently, genomic predictors of progression have been defined for untreated SMM. However, the usefulness of such markers in the context of clinical trials evaluating upfront treatment in high-risk SMM (HR SMM) has not been explored yet, precluding the identification of baseline genomic alterations leading to drug resistance. For this reason, we carried out next-generation sequencing and fluorescent in-situ hybridization studies on 57 HR and ultra-high risk (UHR) SMM patients treated in the phase II GEM-CESAR clinical trial (NCT02415413). DIS3, FAM46C, and FGFR3 mutations, as well as t(4;14) and 1q alterations, were enriched in HR SMM. TRAF3 mutations were specifically associated with UHR SMM but identified cases with improved outcomes. Importantly, novel potential predictors of treatment resistance were identified: NRAS mutations and the co-occurrence of t(4;14) plus FGFR3 mutations were associated with an increased risk of biological progression. In conclusion, we have carried out for the first time a molecular characterization of HR SMM patients treated with an intensive regimen, identifying genomic predictors of poor outcomes in this setting.
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Biomarcadores de Tumor , Progresión de la Enfermedad , Resistencia a Antineoplásicos , Mutación , Mieloma Múltiple Quiescente , Humanos , Masculino , Resistencia a Antineoplásicos/genética , Femenino , Mieloma Múltiple Quiescente/genética , Biomarcadores de Tumor/genética , Persona de Mediana Edad , Anciano , Secuenciación de Nucleótidos de Alto Rendimiento , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéuticoRESUMEN
OBJECTIVE: There is a lack of information about the genotype frequencies of IL-6 -174G/C and -572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 -174G/C and -572G/C polymorphisms in Mexican mestizo with RA. METHODS: We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 -174G/C and -572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes. RESULTS: The genotype -174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%, P = 0.845). We found similar results for the genotype -572GG (54% in patients versus 60.8% in controls, P = 0.295). CONCLUSIONS: This is the first study to evaluate the association of -174G/C and -572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease.
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Artritis Reumatoide/genética , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Adulto , Alelos , Artritis Reumatoide/sangre , Artritis Reumatoide/diagnóstico , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Interleucina-6/sangre , Masculino , México , Persona de Mediana EdadRESUMEN
Glucocorticoids are frequently used in rheumatoid arthritis (RA) in order to alleviate symptoms of joint inflammation, retard erosions and to treat extra-articular manifestations, although these drugs may increase the risk of bone mineral loss and osteoporotic fractures. To date, in Mexico there are no studies that identify the frequency of patients with RA with corticosteroids, receiving therapy for osteoporosis. Therefore, we evaluated the prevalence and factors related to the prescription of antiresorptives in 520 Mexican patients with RA. We used a multivariate model to identify variables associated with antiresorptives prescription. We identified that although 79% of patients were under treatment with glucocorticoids, only 13% received antiresorptive agents as preventive therapy for osteoporosis. The multivariate analysis identified that higher proportions of antiresorptive drugs prescriptions were associated with female patients (OR 11.40, 95% CI: 1.5-84.3, P = 0.02), an age of 40 years or more (OR 3.22, 95% CI: 1.3-8.3, P = 0.02) and to consume a lower number of cointerventions with other drugs (OR 1.09, 95% CI: 1.0-1.2, P = 0.03). Corticosteroid treatment was not associated with the prescription of antiresorptives (P = 0.31). In conclusion, a low proportion of Mexicans with RA receive antiresorptive therapy independently regardless of whether they consume or not chronically corticosteroids. Additional strategies should be evaluated to encourage the prevention and early treatment for osteoporosis in patients with RA.
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Antirreumáticos/efectos adversos , Artritis Reumatoide/tratamiento farmacológico , Conservadores de la Densidad Ósea/uso terapéutico , Resorción Ósea/prevención & control , Glucocorticoides/efectos adversos , Osteoporosis/prevención & control , Adulto , Artritis Reumatoide/complicaciones , Artritis Reumatoide/epidemiología , Comorbilidad , Estudios Transversales , Quimioterapia Combinada , Femenino , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Osteoporosis/complicaciones , Osteoporosis/epidemiología , Prevalencia , Factores SexualesRESUMEN
To evaluate the association between pulmonary function and clinical variables in ankylosing spondylitis (AS) and to compare the pulmonary function of patients with AS with that of healthy controls, 61 AS patients and 74 healthy controls were included. In AS, we assessed clinical disease indices (BASDAI, BASFI, BASG), morning stiffness, number of hypersensitive entheses, metrology measures, 6-min walking test, acute phase reactants, radiological presence of "bamboo spine," and severity of radiological involvement in sacroiliac and vertebral joints. AS and healthy controls had similar age and gender. All the parameters of pulmonary function were significantly diminished in AS than in healthy controls (p < 0.001), with a higher proportion of restrictive pattern (57.4 vs. 5.4 %). In AS, pulmonary function correlated negatively with BASDAI, BASFI, BASG, morning stiffness, number of hypersensitive entheses, occiput-wall distance, and ESR, and positively with 6-min walking test. There was no association between pulmonary function with radiological stage of vertebral joints and sacroiliac joints, "bamboo spine," disease duration, or chest expansion. A higher frequency of AS patients had a decreased pulmonary function and results of the 6-min walking test. These abnormalities in AS were more related with disease activity than with mobility limitation.
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Pulmón/fisiopatología , Espondilitis Anquilosante/fisiopatología , Adulto , Antirreumáticos/uso terapéutico , Sedimentación Sanguínea , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Espondilitis Anquilosante/tratamiento farmacológico , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Capacidad Vital , CaminataRESUMEN
Brain maturation in 1-36 month old children suffering from congenital cardiopathologies was assessed after a study of psychomotor development. The Rogers' test (Rogers et al., Developmental programming for infants and young children. Volume 2. Early intervention developmental profile, Revised edition, ESL/ELT Michigan, Ann Arbor, 1981) was applied to 65 children, of whom 21 presented with simple cardiopathologies (CpS) and 22 with complex cardiopathologies (CpC). All children were matched by age, sex and socioeconomic status to 22 healthy children in a control group (C). Mean differences between the three groups were established by applying the Kruskal-Wallis test, and mean differences between the C and CpS/CpC groups were determined using the Mann-Whitney test. The proportion of cases evaluated as "low" in each group was calculated by applying the Rogers' test, and a test of proportion differences was applied between the C and CpS/CpC groups. CpS children performed similarly to the C, whereas CpC children scored significantly lower than C children on all variables. It is highly likely that the suboptimal psychomotor performance observed in CpC children was due to compromised hemodynamics and related to subclinical immaturity of cerebral development.
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Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/psicología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/psicología , Pruebas Neuropsicológicas/estadística & datos numéricos , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/psicología , Encéfalo/fisiopatología , Preescolar , Discapacidades del Desarrollo/clasificación , Discapacidades del Desarrollo/fisiopatología , Femenino , Cardiopatías Congénitas/fisiopatología , Hemodinámica/fisiología , Humanos , Lactante , Masculino , Psicometría , Trastornos Psicomotores/fisiopatología , Estadísticas no ParamétricasRESUMEN
Anti-RNA polymerase III (RNAP III) antibodies are highly specific for scleroderma (SSc) and associated with diffuse SSc and renal crisis. Coexistence of anti-RNAP III and other SSc autoantibodies is rarely documented. We report three cases with coexisting anti-RNAP III and anti-U1RNP. Autoantibodies in 3829 sera from rheumatology clinics were screened by immunoprecipitation. Anti-RNAP III-positive sera were also examined by immunofluorescence and anti-RNAP III ELISA. In total, 35 anti-RNAP III-positive sera were identified by immunoprecipitation, in which three had coexisting anti-U1RNP. All three were anti-RNAP III ELISA positive. Two had anti-RNAP I dominant (vs. RNAP III) reactivity and showed strong nucleolar staining. A case with anti-U1/U2RNP (U2RNP dominant) had systemic lupus erythematosus (SLE)-SSc overlap syndrome; however, the remaining two cases had SLE without signs of SSc. All three cases of anti-RNAP III + U1RNP fulfilled ACR SLE criteria but none in the group with anti-RNAP III alone (p = 0.0002). In contrast, only one case in the former group had sclerodermatous skin changes and Raynaud's phenomenon, vs. 92% with scleroderma in the latter (p < 0.05). Although anti-RNAP III is highly specific for SSc, cases with coexisting anti-U1RNP are not so uncommon among anti-RNAP III positives (8%, 3/35) and may be SLE without features of SSc.
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Anticuerpos Antinucleares/sangre , Autoanticuerpos/sangre , Lupus Eritematoso Sistémico , ARN Polimerasa III/inmunología , Ribonucleoproteína Nuclear Pequeña U1/inmunología , Esclerodermia Sistémica/inmunología , Adulto , Femenino , Humanos , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/inmunología , Lupus Eritematoso Sistémico/patología , Esclerodermia Sistémica/sangreRESUMEN
BACKGROUND: The ACTN3 gene encodes the fast muscle protein α-actinin-3. The ACTN3 R577X polymorphism is a premature stop codon and results in absence of α-actinin-3 in 577XX homozygotes. The aim of this study was to determine the ACTN3 genotype in idiopathic inflammatory myopathies (IIMs). METHODS: We performed ACTN3 genotyping on 27 patients with dermatomyositis (DM), 10 with polymyositis (PM), and 85 healthy subjects. Muscle enzyme levels of creatine phosphokinase (CPK), lactic dehydrogenase (LDH), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were recorded at the time of diagnosis and recruitment. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the allele frequency was analysed. RESULTS: A total of 36% of healthy subjects had the ACTN3 577XX polymorphism (α-actinin-3 deficiency), 18% had the 577RR (homozygous wild type) genotype, and 46% 577RX (heterozygous). In DM/PM, 70% had the ACTN3 577XX polymorphism, 6% RR, and 24% RX [odds ratio (OR) 4.12, 95% confidence interval (CI) 1.67-10.33, p < 0.001]. In healthy subjects, the R allele was present in 41% and the X allele in 59% compared to 18% and 82%, respectively, in the IIM group (OR 3.21, 95% CI 1.57-6.66, p < 0.001). Thus, the ACTN3 577X allele seemed to increase the risk of developing IIM, and DM in particular, although this was not related to severity of expression of the phenotype. CONCLUSIONS: The ACTN3 577X allele appeared to increase the risk of developing IIM; 70% of IIM patients were deficient in α-actinin-3. By contrast, ACTN3 577XX patients seemed to have less severe disease as reflected in lower muscle enzyme levels.
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Actinina/genética , Predisposición Genética a la Enfermedad , Miositis/genética , Polimorfismo de Nucleótido Simple , Adulto , Alelos , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , México , Persona de Mediana Edad , Fenotipo , Índice de Severidad de la EnfermedadRESUMEN
Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. Associated anomalies were: plagiocephaly, broad halluces, nail hypoplasia, cryptorchidism, diastasis recti, and adducted thumbs. Focal seizures in the mouth were also observed. The radiographs revealed advanced bone age and metaphyseal widening of femur and tibia. FCRS has an unknown etiology with only three reported cases so far (since 1977). We report a patient with the main features of FCRS but without the renal component, suggesting that this entity can present a wide clinical spectrum. Based on these findings and on the few previously reported cases with a highly variable phenotype when compared with the original report, we suggest that FCRS should be further clinical delineated according to the following leading anomalies: endocardial fibroelastosis, unusual facial appearance and mental retardation, in order to find more cases that allow a wider clinical description and the identification of the genetic defect(s).
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Anomalías Múltiples/diagnóstico , Fisura del Paladar/diagnóstico , Fibroelastosis Endocárdica/diagnóstico , Cara/anomalías , Cardiopatías Congénitas/diagnóstico , Humanos , Lactante , Riñón/anomalías , MasculinoRESUMEN
The objective of the present study was to monitor the levels of organochlorine pesticides HCB; α-, ß-, γ-HCH; pp'DDE; op'DDT; and pp'DDT in blood serum of Veracruz, Mexico inhabitants. Organochlorine pesticides were analyzed in 150 blood serum samples that constituted that which remained after clinical analyses, using gas chromatography-electron-capture detection (GC-ECD). The results were expressed as milligrams per kilogram on fat basis and micrograms per liter on wet weight. Only the following pesticides were detected: p,p'-DDE was the major organochlorine component, detected in 100% of samples at mean 15.8 mg/kg and 8.4 µg/L; p,p'-DDT was presented in 41.3.% of monitored samples at mean 3.1 mg/kg and 1.4 µg/L; ß-HCH was found in 48.6% of the samples at mean 4.9 mg/kg and 2.7 µg/L; op'DDT was determined to be in only 3.3% of monitored samples at mean 2.7 mg/kg and 1.4 µg/L. The pooled samples divided according to sex showed significant differences of ß-HCH and pp'DDE concentrations in females. The samples grouped according to age presented the third tertile as more contaminated in both sexes, indicating age as a positively associated factor with serum organochlorine pesticide levels in Veracruz inhabitants.
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Exposición a Riesgos Ambientales/estadística & datos numéricos , Contaminantes Ambientales/sangre , Hidrocarburos Clorados/sangre , Plaguicidas/sangre , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , DDT/sangre , Diclorodifenil Dicloroetileno/sangre , Exposición a Riesgos Ambientales/análisis , Femenino , Hexaclorobenceno/sangre , Hexaclorociclohexano/sangre , Humanos , Masculino , México , Persona de Mediana Edad , Adulto JovenRESUMEN
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an â¼17-Mb 5q terminal duplication and an â¼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35âqter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.
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Cromosomas Humanos Par 5/genética , Hipotiroidismo/genética , Adulto , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Craneosinostosis/genética , Síndrome del Maullido del Gato/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Discapacidad Intelectual/genética , Cariotipificación , Masculino , Trisomía/genéticaRESUMEN
Rheumatoid arthritis (RA) is the prototype of the rheumatic diseases worldwide. Methotrexate (MTX) is the drug of first choice in the treatment of this disease due to its immunosuppressant effect. However, side events are present in 30% of the patients. The C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are involved in the metabolism of MTX. Earlier studies reported an association between these polymorphisms and elevation of hepatic enzymes. We analyzed the frequencies of both polymorphisms and the presence of transaminasemia in 70 Mexican patients with rheumatic arthritis treated with MTX. The 19% (13/70) of patients had an increase in the serum level of transaminases. The A1298C polymorphism was associated with elevation of transaminases (P=0.024). The identification of MTHFR genotypes for C677T and A1298C polymorphisms could lead clinicians to identify patients in risk of elevation of transaminases, and give them an individualized treatment, as is a goal of pharmacogenetics.
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Antirreumáticos/efectos adversos , Artritis Reumatoide/tratamiento farmacológico , Artritis Reumatoide/genética , Metotrexato/efectos adversos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , Transaminasas/sangre , Antirreumáticos/farmacocinética , Artritis Reumatoide/enzimología , Artritis Reumatoide/etnología , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Frecuencia de los Genes , Genotipo , Humanos , Metotrexato/farmacocinética , Metilenotetrahidrofolato Reductasa (NADPH2)/metabolismo , México/epidemiología , Oportunidad Relativa , Farmacogenética , Fenotipo , Medicina de Precisión , Medición de Riesgo , Factores de Riesgo , Resultado del Tratamiento , Regulación hacia ArribaRESUMEN
AIM: To evaluate the influence of biosynthetic precursors, intermediates and electron acceptors on the production of antifungal compounds [phenyllactic acid (PLA) and hydroxyphenyllactic acid (OH-PLA)] by Lactobacillus plantarum CRL 778, a strain isolated from home-made sourdough. METHODS AND RESULTS: Growth of fermentative activity and antifungal compounds production by Lact. plantarum CRL 778 were evaluated in a chemically defined medium (CDM) supplemented with biosynthetic precursors [phenylalanine (Phe), tyrosine (Tyr)], intermediates [glutamate (Glu), alpha-ketoglutarate (α-KG)] and electron acceptors [citrate (Cit)]. Results showed that the highest PLA production (0.26 mmol l(-1)), the main antifungal compound produced by Lact. plantarum CRL 778, occurred when greater concentrations of Phe than Tyr were present. Both PLA and OH-PLA yields were increased 2-folds when Cit was combined with α-KG instead of Glu at similar Tyr/Phe molar ratio. Similarly, glutamate dehydrogenase (GDH) activity was significantly (P < 0.01) stimulated by α-KG and Cit in Glu-free medium. CONCLUSION: Phe was the major stimulant for PLA formation; however, Cit could increase both PLA and OH-PLA synthesis by Lact. plantarum CRL 778 probably due to an increase in oxidized NAD(+). This effect, as well as the GDH activity, was enhanced by α-KG and down regulated by Glu. SIGNIFICANCE AND IMPACT OF THE STUDY: This is the first study where the role of Glu and GDH activity in the PLA and OH-PLA synthesis was evidenced in sourdough lactic acid bacteria (LAB) using a CDM. These results contribute to the knowledge on the antifungal compounds production by sourdough LAB with potential applications on the baked goods.
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Citratos/metabolismo , Lactatos/metabolismo , Lactobacillus plantarum/metabolismo , Fenilpropionatos/metabolismo , Medios de Cultivo/química , Fermentación , Ácido Glutámico/metabolismo , Ácidos Cetoglutáricos/metabolismo , Fenilalanina/metabolismoRESUMEN
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
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Anomalías Múltiples , Aberraciones Cromosómicas , Anomalías Craneofaciales , Fibromatosis Gingival , Deformidades Congénitas de la Mano , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Niño , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Sordera/diagnóstico , Sordera/genética , Diagnóstico Diferencial , Femenino , Fibromatosis Gingival/diagnóstico , Fibromatosis Gingival/genética , Expresión Génica/genética , Genes Dominantes/genética , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/genética , Humanos , FenotipoRESUMEN
OBJECTIVE: To assess the effect of caspase 3 inhibition, in the expression of intracellular antigens induced by apoptosis. MATERIAL AND METHODS: Skin explants of neonatal Balb/c mice were used to assess the autoantigen expression. Skin was obtained by punch biopsies, tissues were cultured in DMEM; cell death was induced by chemicals and assessed by TUNEL. The expression of La, Ro, Sm, RNP, Cajal Bodies and NuMa antigens were monitored by immunohistochemistry using autoantibodies or monoclonal antibodies against these antigens. RESULTS: Chemicals used to induce cell death, successfully produced apoptosis or necrosis in more than 60% of keratinocytes, and viability was significantly decreased when it was compared with those in controls. An increased expression of all skin intracellular antigens in skin biopsies treated with chemicals, major antigenic expression was detected with anti-La and anti-Ro antibodies. The caspase 3 inhibitor DEVD-CMK significantly decreased the expression of antigens induced by chemicals. CONCLUSION: By this result we can infer that caspase inhibitors modify apoptosis and decrease the autoantigens associated to cell death.
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Clorometilcetonas de Aminoácidos/farmacología , Apoptosis/inmunología , Autoantígenos/biosíntesis , Enfermedades Autoinmunes/prevención & control , Inhibidores de Caspasas , Inhibidores de Cisteína Proteinasa/uso terapéutico , Piel/inmunología , Animales , Animales Recién Nacidos , Enfermedades Autoinmunes/etiología , Biopsia , Camptotecina/farmacología , Células Cultivadas/efectos de los fármacos , Células Cultivadas/enzimología , Células Cultivadas/inmunología , Cicloheximida/farmacología , Inhibidores de Cisteína Proteinasa/farmacología , Evaluación Preclínica de Medicamentos , Peróxido de Hidrógeno/farmacología , Etiquetado Corte-Fin in Situ , Cloruro de Mercurio/farmacología , Ratones , Ratones Endogámicos BALB C , Técnicas de Cultivo de Órganos , Piel/enzimologíaRESUMEN
The objective of the present study was to monitor the levels of organochlorine pesticides HCB, α-ß-γ-HCH, pp'DDE, op'DDT and pp'DDT in 150 adipose tissue samples of Veracruz, Mexico inhabitants. In analyzed samples, the following pesticides were detected: p,p'-DDE in 100% of the samples at mean 1.643 mg/kg; p,p'-DDT in 99.3.% of the samples at mean 0.227 mg/kg; ß-HCH in 97.3% of the samples at mean 0.063 mg/kg; and op'DDT in 93.3% of the samples at mean 0.022 mg/kg. Comparing mean, median and geometric mean concentrations of organochlorine pesticides shows a decrease in values from mean to median and to geometric mean which points out a prevalence of lower concentrations among the total samples and the existence of occasional cases of extreme exposure expressed in range values. The pooled samples divided according to sex, showed only significant differences of pp'DDE median concentrations between sexes. The other organochlorine pesticides indicated no statistical differences between sexes, including the pp'DDE/pp'DDT ratio. The samples grouped according to age, showed that the third tertile was more contaminated for both sexes, indicating age as a positively associated factor with organochlorine pesticide levels in adipose tissue of Veracruz inhabitants. Comparing organochlorine pesticide levels between 2008 and 2010 years, a decreased tendency for ß-HCH, pp'DDE, Σ-DDT and pp'DDE/pp'DDT ratio levels was observed.
Asunto(s)
Tejido Adiposo/metabolismo , Exposición a Riesgos Ambientales/análisis , Contaminantes Ambientales/metabolismo , Hidrocarburos Clorados/metabolismo , Residuos de Plaguicidas/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , DDT/metabolismo , Diclorodifenil Dicloroetileno/metabolismo , Exposición a Riesgos Ambientales/estadística & datos numéricos , Femenino , Hexaclorociclohexano/metabolismo , Humanos , Masculino , México , Persona de Mediana Edad , Adulto JovenRESUMEN
Benign and malignant bile duct strictures require multidisciplinary management. The radiologist, endoscopist and surgeon must assess the general conditions of the patient, as well as the etiology of the stenosis and the therapeutic options (palliative, temporal, or definitive). Stenotic injuries that maintain bilioenteric continuity are susceptible to radiologic and/or endoscopic treatment, specially benign lesions, usually appearing in the postsurgical period. Injuries with loss of continuity require surgical management in almost every case. Iatrogenic bile duct injuries with preserved continuity (Strasberg A and D) may be treated by endoscopy. Types B and C, in which a liver segment loses communication with the remaining bile tree, need surgical repair and/or resection. Complete sections of the bile ducts require surgical intervention, with hepatojejunostomy being the best choice. The use of metallic endoluminal stents is almost prohibited in these types of injuries. Benign, non-iatrogenic injuries (sclerosing cholangitis, autoimmune cholangiopathy) require surgical intervention in rare occasions. Malignant injuries are extremely aggressive and only a small percentage (less than 15%) is candidate for curative resection, which unfortunately does not preclude recurrence.