RESUMEN

Resumen: Las lesiones del ángulo pontocerebeloso (APC) representan el 6 al 10% de las neoplasias intracraneales, siendo los schwannomas vestibulares y meningiomas los más comunes. Sin embargo, hasta el 15% pueden ser otras lesiones, entre ellas las derivadas a partir de restos de células melanocíticas presentes en las leptomeninges. El diagnóstico diferencial de las patologías tumorales del APC es extenso, siempre teniendo en cuenta las lesiones más comunes. Sin embargo, cuando las características radiológicas no son las esperadas, el enfoque debe orientarse hacia las lesiones inusuales, poniendo en contexto las diferentes estirpes celulares que pueden dar origen a las neoplasias en esta localización, como las neoplasias melanocíticas. Se presenta el caso de un masculino de 74 años con síndrome cerebeloso de tórpida evolución, al cual se le realiza RM de cerebro contrastada, identificando una lesión de base dural en el APC izquierdo, con hiperintensidad de señal en T1 e hipointensidad en T2, atípico para las lesiones más comunes en esta región, que sugiere su contenido melanocítico.

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Abstract: Cerebellopontine angle tumors (CPA) represent approximately 6 to 10% of intracranial tumors. Vestibular Schwannomas and meningiomas are the most common, however up to 15% can be of other origin, including from melanocytes derived from the neural crest. The differential diagnosis of CPA pathologies is extensive, always taking into account the most common ones. However, if the radiological characteristics are not the expected, the approach should be directed towards unusual lesions, putting into context the different cell lines that can give rise to the neoplasm at this location, such as melanotic neoplasms. We present a case of a 74-year-old male, who presented with a cerebellar syndrome. Due to an atypical clinical evolution, a contrast enhanced head MRI was performed, revealing a dural based tumor on the left CPA, which was hyperintense on T1 and hypointense on T2 weighted sequences, which is not expected from the common lesions at this region and suggested it's melanotic content.

Asunto(s)

Humanos , Masculino , Anciano , Neoplasias Cerebelosas/diagnóstico por imagen , Ángulo Pontocerebeloso/diagnóstico por imagen , Neoplasias Meníngeas/diagnóstico por imagen , Espectroscopía de Resonancia Magnética , Neoplasias Cerebelosas/cirugía , Ángulo Pontocerebeloso/cirugía , Diagnóstico Diferencial , Neoplasias Meníngeas/cirugía

RESUMEN

Osteoporosis (OP) is highly prevalent in rheumatoid arthritis (RA) and is influenced by genetic factors. Single-nucleotide polymorphism (SNP) rs2073618 in the TNFRSF11B osteoprotegerin (OPG) gene has been related to postmenopausal OP although, to date, no information has been described concerning whether this polymorphism is implied in abnormalities of bone mineral density (BMD) in RA. We evaluated, in a case-control study performed in Mexican-Mestizo women with RA, whether SNP rs2073618 in the TNFRSF11B gene is associated with a decrease in BMD. RA patients were classified as follows: (1) low BMD and (2) normal BMD. All patients were genotyped for the rs2073618 polymorphism by PCR-RFLP. The frequency of low BMD was 74.4%. Higher age was observed in RA with low BMD versus normal BMD (62 and 54 years, resp.; p < 0.001). Worse functioning and lower BMI were observed in RA with low BMD (p = 0.003 and p = 0.002, resp.). We found similar genotype frequencies in RA with low BMD versus RA with normal BMD (GG genotype 71% versus 64.4%, GC 26% versus 33%, and CC 3% versus 2.2%, resp.; p = 0.6). We concluded that in Mexican-Mestizo female patients with RA, the rs2073618 polymorphism of the TNRFS11B gene is not associated with low BMD.

Asunto(s)

Artritis Reumatoide/genética , Densidad Ósea/genética , Osteoprotegerina/genética , Polimorfismo de Nucleótido Simple , Factores de Edad , Anciano , Alelos , Artritis Reumatoide/complicaciones , Artritis Reumatoide/etnología , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , México , Persona de Mediana Edad , Osteoporosis/genética

RESUMEN

Objetivos: Establecer la utilidad del índice de presión arterial tobillo-tobillo (ITT) en los pacientes con trauma de extremidades inferiores y signos blandos de lesión vascular en términos de sensibilidad, especificidad y valores predictivos según el mejor punto de corte detectado. Material y método: Se incluyeron 120 pacientes con trauma en extremidades inferiores y signos blandos de lesión vascular que ingresaron al Hospital Universitario de Santander (Bucaramanga, Colombia) durante los años 2012 a 2015, a los cuales se les calculó el índice tobillo-brazo (ITB) e ITT. Resultados: Un total de 21 (17,5%) pacientes tuvieron ITB menor a 0,9 al ingreso, los cuales fueron llevados a intervención quirúrgica inmediata, encontrando lesión vascular; 2 (1,6%) pacientes tuvieron ITB menor a 0,9 en el control realizado a las 6 h, los cuales también fueron llevados a intervención quirúrgica, encontrando lesión vascular. Por tanto, se encontraron 23 pacientes con lesión vascular. Las curvas ROC tanto de ITB como de ITT señalan que ambas tienen un muy buen desempeño para diagnosticar las lesiones vasculares en pacientes con signos blandos cuando se emplean una única vez. En ambos casos, el punto de corte propuesto tradicionalmente de 0,90 tiene una capacidad discriminatoria adecuada, con sensibilidad de 91% (IC 95%: 0,71-0,98), especificidad de 100% (IC 95%: 0,96-1,0), valor predictivo positivo de 100% (IC 95%: 0,83-1,0) y valor predictivo negativo de 97% (IC 95%: 0,92-0,99). Conclusión. El índice tobillo-tobillo (ITT) permite descartar lesión vascular en el paciente con trauma en extremidades inferiores y signos blandos.

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Objectives: We pretend to establish the utility of the ankle-ankle systolic pressure index (AAI) in patients with trauma in the inferior limbs and soft signs of vascular injury describing its sensitivity, specificity and predictive values according to the best cut-off point. Material and method: The cohort included 120 patients with trauma in the inferior limbs and soft signs of vascular injury who attended the University Hospital of Santander (Bucaramanga, Colombia) over a period of 4 years (2012-2015). Results: 21 (17.5%) patients had an ankle brachial pressure index (ABI) < .9 at the admission and they received immediately surgical management, finding vascular injury in the operating room; 2 (1.6%) patients had an ABI < .9 in the 6 h monitoring control and they also received surgical management finding vascular injury. Therefore, we found 23 patients with vascular injury. The ROC curves for the ABI and AAI show that they both have a good achievement for the diagnosis of vascular injury in patients with soft signs when they were used one time. In both cases, the traditionally point of .90 has a good discriminatory capacity with a sensitivity of 91% (95% CI: .71-.98), specificity of 100% (95% CI: .96-1.0), positive predictive value of 100% (95% CI: .83-1.0) and negative predictive value of 97% (95% CI: .92-.99). Conclusion. The ankle-ankle systolic pressure index (AAI) allows to rule out vascular injury in the patient with trauma in the inferior limbs and soft signs.

Asunto(s)

Humanos , Masculino , Femenino , Adulto , Adulto Joven , Índice Tobillo Braquial , Vasos Sanguíneos/lesiones , Extremidad Inferior/lesiones , Heridas y Lesiones/diagnóstico , Valor Predictivo de las Pruebas , Curva ROC , Sensibilidad y Especificidad

RESUMEN

Several interleukin 6 gene (IL6) polymorphisms are implicated in susceptibility to rheumatoid arthritis (RA). It has not yet been established with certainty if these polymorphisms are associated with the severe radiographic damage observed in some RA patients, particularly those with the development of joint bone ankylosis (JBA). The objective of the present study was to evaluate the association between severe radiographic damage in hands and the -174G/C and -572G/C IL6 polymorphisms in Mexican Mestizo people with RA. Mestizo adults with RA and long disease duration (>5 years) were classified into two groups according to the radiographic damage in their hands: a) severe radiographic damage (JBA and/or joint bone subluxations) and b) mild or moderate radiographic damage. We compared the differences in genotype and allele frequencies of -174G/C and -572G/C IL6 polymorphisms (genotyped using polymerase chain reaction-restriction fragment length polymorphism) between these two groups. Our findings indicated that the -174G/C polymorphism of IL6 is associated with severe joint radiographic damage [maximum likelihood odds ratios (MLE_OR): 8.03; 95%CI 1.22-187.06; P = 0.03], whereas the -572G/C polymorphism of IL6 exhibited no such association (MLE_OR: 1.5; 95%CI 0.52-4.5; P = 0.44). Higher anti-cyclic citrullinated peptide antibody levels were associated with more severe joint radiographic damage (P = 0.04). We conclude that there is a relevant association between the -174G/C IL6 polymorphism and severe radiographic damage. Future studies in other populations are required to confirm our findings.

Asunto(s)

Artritis Reumatoide/genética , Traumatismos de la Mano/genética , Mano/efectos de la radiación , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Adulto , Artritis Reumatoide/complicaciones , Artritis Reumatoide/etnología , Femenino , Predisposición Genética a la Enfermedad , Traumatismos de la Mano/etnología , Traumatismos de la Mano/etiología , Humanos , Masculino , México/etnología , Persona de Mediana Edad

RESUMEN

Objective. To evaluate the association of -174G/C IL-6 polymorphism with failure in therapeutic response to methotrexate (MTX) or leflunomide (LEF). This prospective, observational cohort included 96 Mexican-Mestizo patients with moderate or severe rheumatoid arthritis (RA), initiating MTX or LEF, genotyped for IL-6 -174G/C polymorphism by PCR-RFLP. Therapeutic response was strictly defined: only if patients achieved remission or low disease activity (DAS-28 < 3.2). Results. Patients with MTX or LEF had significant decrement in DAS-28 (p < 0.001); nevertheless, only 14% and 12.5% achieved DAS-28 < 3.2 at 3 and 6 months. After 6 months with any of these drugs the -174G/G genotype carriers (56%) had higher risk of therapeutic failure compared with GC (RR: 1.19, 95% CI: 1.07-1.56). By analyzing each drug separately, after 6 months with LEF, GG genotype confers higher risk of therapeutic failure than GC (RR = 1.56; 95% CI = 1.05-2.3; p = 0.003), or CC (RR = 1.83; 95% CI = 1.07-3.14; p = 0.001). This risk was also observed in the dominant model (RR = 1.33; 95% CI = 1.03-1.72; p = 0.02). Instead, in patients receiving MTX no genotype was predictor of therapeutic failure. We concluded that IL-6 -174G/G genotype confers higher risk of failure in therapeutic response to LEF in Mexicans and if confirmed in other populations this can be used as promissory genetic marker to differentiate risk of therapeutic failure to LEF.

Asunto(s)

Artritis Reumatoide/tratamiento farmacológico , Interleucina-6/genética , Isoxazoles/administración & dosificación , Metotrexato/administración & dosificación , Anciano , Artritis Reumatoide/genética , Artritis Reumatoide/patología , Biomarcadores Farmacológicos/sangre , Femenino , Marcadores Genéticos , Genotipo , Humanos , Interleucina-6/sangre , Isoxazoles/efectos adversos , Leflunamida , Masculino , Metotrexato/efectos adversos , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas

RESUMEN

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.

Asunto(s)

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 Edad

RESUMEN

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.

Asunto(s)

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 Sexuales

RESUMEN

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.

Asunto(s)

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 Enfermedad

RESUMEN

OBJECTIVES: Chronic liver diseases caused by hepatitis B (HBV) or C virus (HCV) are common worldwide. Despite reports on autoimmunity in viral hepatitis, studies on autoantibodies associated with systemic rheumatic diseases are inconsistent. Testing of a small number of selected autoantibody specificities using ELISA appears to be one reason for inconsistency. Sera from patients with viral hepatitis were tested by immunoprecipitation that will allow unbiased screening of autoantibodies found in systemic rheumatic diseases. METHODS: Ninety Mexican patients (37 male, 53 female, 26 HBV, 6 HBV+HCV, 58 HCV) with chronic viral hepatitis, confirmed by nested or RT-nested-PCR, HBsAg and anti-HCV antibodies, were studied. Autoantibodies were tested by immunofluorescence, immunoprecipitation and ELISA. Specificities were verified using reference sera. RESULTS: Antinuclear antibodies were found in 38% HBV, 17% HBV+HCV, and 28% in HCV. Autoantibodies to Argonaute (Ago2, Su antigen), a microRNA binding protein that plays a key role in RNA-induced silencing complex (RISC), was found in 5% (4/64) of HCV or HBV+HCV coinfected patients but not in HBV (0/26). Anti-Ago2/Su was found in 1/2 of I-IFN-treated case vs. 3/62 in cases without I-IFN. HCV did not have other lupus autoantibodies whereas 19% (5/26) of HBV had anti-U1RNP+Ku, Ro+La, RNA polymerase II, or possible U5snRNPs. CONCLUSIONS: Lupus autoantibodies were uncommon in HCV except anti-Ago2/Su. HCV and I-IFN have many ways to affect TLR signaling, miRNA and miRNA binding protein Ago2/Su. To understand the mechanism of specific targeting of Ago2 in HCV may provide a clue to understand the mechanism of specific autoantibody production.

Asunto(s)

Autoanticuerpos/inmunología , Factor 2 Eucariótico de Iniciación/inmunología , Hepatitis B/inmunología , Hepatitis C/inmunología , MicroARNs/metabolismo , Adolescente , Adulto , Anciano , Especificidad de Anticuerpos , Proteínas Argonautas , Niño , Femenino , Hepacivirus/inmunología , Hepacivirus/fisiología , Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Hepatitis C/sangre , Anticuerpos contra la Hepatitis C/sangre , Humanos , Inmunoprecipitación/métodos , Interferón Tipo I/metabolismo , Masculino , Persona de Mediana Edad , Receptores Toll-Like/metabolismo , Adulto Joven

RESUMEN

Hepatitis A virus (HAV) infection is highly prevalent in Latin America, including Venezuela. Subgenotype IA seems to circulate in an almost exclusive fashion, except in Brazil. The aim of this study was the molecular characterization of the HAV infection in Venezuela, in order to characterize the circulating strains and to analyze the presence of quasispecies in sporadic cases and an epidemic outbreak. A total of 125 (113 sera and 12 feces) samples positive for anti-HAV IgM from sporadic cases and epidemic outbreak, were submitted to hemi-nested RT-PCR for amplification of the VP1 N terminus or complete region of the HAV genome. Sequences obtained from 96 Venezuelan isolates were used for phylogenetic analysis. The quasispecies distribution was evaluated by cloning of HAV amplicons. Phylogenetic analysis of HAV sequences from Venezuela showed the exclusive circulation of subgenotype IA, but with co-circulation of two lineages, not found in other countries. The genetic variability found among Venezuelan strains was also analyzed by single-strand conformation polymorphism (SSCP). This technique allowed the detection of intra-strain variability, which was indeed related to the presence of quasispecies populations in the isolates. The quasispecies heterogeneity was higher in some isolates derived from sporadic cases compared to the one observed in the outbreak. The molecular characterization of HAV isolates from Venezuela showed the circulation of a unique subgenotype IA, but with the presence of diverse strains and quasispecies inside the viral populations.

Asunto(s)

Brotes de Enfermedades , Variación Genética , Virus de la Hepatitis A Humana/clasificación , Virus de la Hepatitis A Humana/genética , Hepatitis A/epidemiología , Adolescente , Adulto , Heces/virología , Genotipo , Hepatitis A/virología , Virus de la Hepatitis A Humana/aislamiento & purificación , Humanos , Epidemiología Molecular , Datos de Secuencia Molecular , Filogenia , Polimorfismo Conformacional Retorcido-Simple , ARN Viral/análisis , ARN Viral/sangre , ARN Viral/aislamiento & purificación , Análisis de Secuencia de ADN , Especificidad de la Especie , Venezuela/epidemiología , Proteínas Estructurales Virales/genética , Adulto Joven

RESUMEN

The consumption of drinking water rich in fluoride has toxic effects on the central nervous system. In cell biology research, fluoride is currently used as a phosphatase inhibitor. The aim of the present study was to evaluate the effect of fluoride on different physiological processes in GH4C1 pituitary tumour cells. We used a range of different fluoride concentrations, from levels below normal human serum concentrations (0.23 and 1.2 micromol/L) to those observed in chronically exposed persons (10.7 micromol/L) and above (107 and 1072 micromol/L). Treatment of 10.7 micromol/L fluoride resulted in a discrete induction of DNA synthesis, without a change in cell number. Cell migration, a behaviour stimulated by growth factors, was increased in cells treated with 2.4 micromol/L. At this fluoride concentration, changes in phosphorylation status of both cytoskeletal and cytosolic protein fractions, as well as in actin cytoskeletal arrangements were observed. The GH4C1 fluoride treated cells had significantly less cellular protein than control cells, suggesting an effect of fluoride on hormone secretion and protein synthesis in this endocrine cell. The bioreduction of MTT was significantly increased with a wide range of fluoride concentrations. With the highest fluoride concentration, 1072 micromol/L, all of the analysed parameters were significantly reduced, suggesting that this dose is highly toxic in GH4C1 cells. Our results show that biologically relevant concentrations of fluoride are capable of increasing cell migration in tumour cells, suggesting that exposure to fluoride could stimulate tumour invasion.

Asunto(s)

Movimiento Celular/efectos de los fármacos , Proliferación Celular/efectos de los fármacos , Fluoruros/farmacología , Actinas/biosíntesis , Actinas/genética , Animales , Western Blotting , Adhesión Celular/efectos de los fármacos , Recuento de Células , Línea Celular Tumoral , Colorantes , Citoesqueleto/efectos de los fármacos , Citoesqueleto/metabolismo , Citoesqueleto/ultraestructura , ADN de Neoplasias/biosíntesis , Relación Dosis-Respuesta a Droga , Proteínas de Neoplasias/biosíntesis , Proteínas de Neoplasias/metabolismo , Fosforilación , Prolactina/metabolismo , Ratas , Sales de Tetrazolio , Tiazoles

RESUMEN

BACKGROUND: We describe a family with a 7-year-old proband case diagnosed with systemic lupus erythematosus (SLE) plus secondary anti-phospholipid syndrome (APS) as well as two affected paternal aunts. We compared the frequency of these polymorphisms with healthy controls. OBJECTIVES: To evaluate the mode of inheritance in this familial case of APS and SLE and the possible association of plasminogen activator inhibitor-1 (PAI-1) -675 4G/5G and PAI-2 Ser(413)/Cys polymorphisms. To compare the genotype frequency of these polymorphisms with the results found in a Mexican Mestizo population. METHODS: PAI-1 -675 4G/5G and PAI-2 Ser(413)/Cys were determined by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique using Bsl I and Mwo I on four generations of the family studied. PAI-2 Ser(413)/Cys polymorphism was also determined in 50 healthy individuals of Mexican Mestizo origin. RESULTS: The family pedigree demonstrated that this family did not follow a Mendelian inheritance pattern. When the PAI-2 Ser(413)/Cys polymorphism was examined, we found that 60% (3/5) of the relatives homozygous to Ser(413)/Ser were affected with SLE and/or APS (p = 0.027). The proband case was 4G/5G genotype for the PAI-1 -675 4G/5G polymorphism. No differences between healthy controls of the Mexican Mestizo population and the family studied for the PAI-2 Ser(413)/Cys polymorphism or PAI-1 -675 4G/5G polymorphisms were found. CONCLUSIONS: Our data indicate that this family did not follow the Mendelian inheritance pattern. The Ser(413)/Ser genotype demonstrated in 60% of the affected members (3/5) of this family might increase the risk for autoimmune syndromes such as APS or SLE.

Asunto(s)

Síndrome Antifosfolípido/genética , Lupus Eritematoso Sistémico/genética , Inhibidor 2 de Activador Plasminogénico/genética , Polimorfismo Genético , Niño , Femenino , Genotipo , Humanos , Masculino , Linaje

RESUMEN

Pregnancy is a phenomenon that is not totally understood, based on the complex molecular interactions between the mother and the embrio. Once the fecundation is completed the fetus starts to fight for survival. The first challenge is the implantation process and the second one is the interaction with the maternal immune system. This review discusses how the fetus avoids the immune system rejection, and the mechanisms that the maternal immune system adapts in order to be fit for a successful pregnancy. Also, we focus in this paper on the effects of pregnancy in rheumatic diseases, because the myriad clinical outcomes of the disease itself and the obstetric complications dependent of the disease implicated, as for example in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), spondyloarthropaties and antiphospholipid syndrome (APS).

Asunto(s)

Complicaciones del Embarazo , Enfermedades Reumáticas , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/terapia , Resultado del Embarazo , Enfermedades Reumáticas/diagnóstico , Enfermedades Reumáticas/terapia

Asunto(s)

Femenino , Niño , Humanos , Miocarditis/diagnóstico , Infecciones por Coxsackievirus , Infecciones por Echovirus , Miocarditis/microbiología

Asunto(s)

Miocarditis/diagnóstico , Niño , Infecciones por Coxsackievirus , Infecciones por Echovirus , Femenino , Humanos , Miocarditis/microbiología

RESUMEN

A qualitative and quantitative monthly study of the mollusks community associated to the submerged roots of the red mangrove, Rhizophora mangle (L.), between October of 1998 and September of 1999, in six stations of the Gulf of Santa Fe, (Sucre State, Venezuela). Were collected 4,704 specimens, 45 species of mollusks were identified (22 gastropods, 15 bivalves and 8 chitons). The most abundant species were: Crassostrea rhizophorae, Isognomon bicolar, I. alatus and Brachidontes exustus. The highest values in diversity and evenness, and the smallest dominant values, were in the stations three and four, while the opposed happened in the stations one and two. The analysis of likeness showed that in the first five stations the space variations in the composition of the community are bigger than the temporary variations, while in the station six the temporary differences prevail. They were factors that could be important to determine the structure of the community, as vicinity to other ecosystems and/or specific biological aspects of the species like adaptations to fluctuating conditions, nutritious habits and migration in search of shady and protected atmospheres

Asunto(s)

Animales , Ecosistema , Moluscos , Raíces de Plantas , Árboles , Densidad de Población , Estaciones del Año , Agua de Mar , Venezuela

RESUMEN

A qualitative and quantitative monthly study of the mollusks community associated to the submerged roots of the red mangrove, Rhizophora mangle (L.), between October of 1998 and September of 1999, in six stations of the Gulf of Santa Fe, (Sucre State, Venezuela). Were collected 4,704 specimens, 45 species of mollusks were identified (22 gastropods, 15 bivalves and 8 chitons). The most abundant species were: Crassostrea rhizophorae, Isognomon bicolar, I. alatus and Brachidontes exustus. The highest values in diversity and evenness, and the smallest dominant values, were in the stations three and four, while the opposed happened in the stations one and two. The analysis of likeness showed that in the first five stations the space variations in the composition of the community are bigger than the temporary variations, while in the station six the temporary differences prevail. They were factors that could be important to determine the structure of the community, as vicinity to other ecosystems and/or specific biological aspects of the species like adaptations to fluctuating conditions, nutritious habits and migration in search of shady and protected atmospheres.

Asunto(s)

Ecosistema , Moluscos/clasificación , Raíces de Plantas , Árboles , Animales , Densidad de Población , Estaciones del Año , Agua de Mar , Venezuela

RESUMEN

We examined the spat availability the oyster Pteria colymbus at 6-8 and 19-21 m depths for 15 months (March 1993-June 1994) in Turpialito, Golfo de Cariaco, Venezuela. Spats were trapped using artificial collectors (plastic filaments in bags, 30 x 60 mm), suspended from a long line. Each collector was replaced by a replica monthly to analyse abundance, shell dimension and mass of P. colymbus. Intraweekly, the temperature, salinity, oxygen and food availability (Chlorophyll a, total seston, organic and inorganic seston) were determinated. There is juvenile recruitment all year, suggesting continuous reproduction. Spat counts were higher at 6-8 m (generally 50-230 juveniles per collector) with peaks in August and December 1993 (April and June 93 at 19-21 m). The length-weigh mass relation was higher at 19-21 m, suggesting greater food availability because of lower organism density (including P. colymbus) and a greater water flux. Phytoplanktonic abundance and temperature were correlated (r2=0.38) with juvenile abundanc; this relationship and the association of juvenile abundance with higher temperature and Chlorophyll a levels, suggest that spat abundance was higher at the beginning of the water stratification period, when phytoplankton biomass is high.

Asunto(s)

Animales , Ecosistema , Ostreidae , Agua de Mar , Ostreidae/anatomía & histología , Ostreidae/fisiología , Densidad de Población , Reproducción , Estaciones del Año , Venezuela

RESUMEN

We examined the spat availability the oyster Pteria colymbus at 6-8 and 19-21 m depths for 15 months (March 1993-June 1994) in Turpialito, Golfo de Cariaco, Venezuela. Spats were trapped using artificial collectors (plastic filaments in bags, 30 x 60 mm), suspended from a long line. Each collector was replaced by a replica monthly to analyse abundance, shell dimension and mass of P. colymbus. Intraweekly, the temperature, salinity, oxygen and food availability (Chlorophyll a, total seston, organic and inorganic seston) were determinated. There is juvenile recruitment all year, suggesting continuous reproduction. Spat counts were higher at 6-8 m (generally 50-230 juveniles per collector) with peaks in August and December 1993 (April and June 93 at 19-21 m). The length-weigh mass relation was higher at 19-21 m, suggesting greater food availability because of lower organism density (including P. colymbus) and a greater water flux. Phytoplanktonic abundance and temperature were correlated (r2=0.38) with juvenile abundanc; this relationship and the association of juvenile abundance with higher temperature and Chlorophyll a levels, suggest that spat abundance was higher at the beginning of the water stratification period, when phytoplankton biomass is high.

Asunto(s)

Ecosistema , Ostreidae , Agua de Mar , Animales , Ostreidae/anatomía & histología , Ostreidae/fisiología , Densidad de Población , Reproducción , Estaciones del Año , Venezuela

RESUMEN

La gastritis hipertrófica gigante o enfermedad de Menetrier es una patología caracterizada por la presencia de plieges largos y gruesos de aspectos cerebriforme que envuelven parte o la totalidad del estómago. Los pacientes frecuentemente tienen síntomas del tracto gastrointestinal, pérdida de peso y edema por hipoproteinemia. Los estudios radiológicos y de laboratorio son claramente diagnósticos. Su degeneración maligna, así como su asociación con otras neoplasias del tubo digestivo, debe ser motivo de alarma e investigación. Se presenta un caso y se hace revisión de la literatura

Asunto(s)

Anciano , Humanos , Masculino , Gastritis Hipertrófica/patología , Gastritis Hipertrófica/cirugía