Infecciones por Escherichia coli productora de toxina Shiga O121: H19 en pacientes atendidos en Mar del Plata / Infections caused by Escherichia coli producing Shiga O121: H19 toxin in patients treated in Mar del Plata

Escherichia coli productora de toxina Shiga (STEC) O157:H7 es el serotipo más frecuentemente identificado como agente causal de colitis hemorrágica y síndrome urémico hemolítico (SUH), aunque se han descripto más de 100 serotipos con potencial patogénico similar. El objetivo del trabajo fue describir casos de enfermedad humana asociados a la infección por STEC O121:H19, atendidos en la ciudad de Mar del Plata y establecer la relación genética de los aislamientos mediante técnicas de epidemiología molecular. Se observó un amplio espectro en la severidad clínica de los ocho casos estudiados: dos fueron asintomáticos (contactos de SUH), un paciente tuvo diarrea sanguinolenta, y cinco presentaron SUH. Uno de los pacientes con SUH falleció. Las cepas O121:H19 portadoras del genotipo stx2a/eae/ehxA fueron sensibles a los antibióticos ensayados y presentaron por electroforesis en gel de campo pulsado (Xbal-PFGE) distintos patrones de macrorrestricción, con similitud del 84,25%. El patrón AREXKX01.0072, detectado en un SUH y en su contacto, es nuevo en la Base de Datos Nacional de STEC no-O157 de la Argentina. La utilización de métodos estandarizados de detección y tipificación de STEC permite a los laboratorios de referencia monitorear la frecuencia temporal y la distribución geográfica de las cepas circulantes para la prevención y control de estos patógenos asociados a enfermedad humana.

Shiga toxin-producing Escherichia coli (STEC) O157:H7 is the most frequent serotype identified as causative agent of sporadic cases and outbreaks of diarrhea with or without blood, hemorrhagic colitis and hemolytic uremic syndrome (HUS), although more than 100 serotypes have been described of similar pathogenic potential. The aim of the study was to describe cases of human disease associated with STEC O121:H19 infections, assisted in Mar del Plata City, and to establish the genetic relationship of the isolates by molecular epidemiology techniques. A wide spectrum was observed in the clinical severity of the eight cases studied: two were asymptomatic (contacts of HUS), one patient had bloody diarrhea, and five cases presented HUS. One HUS case died. All STEC O121:H19 strains carried the stx2a/eae/ehxA genotype, were sensitive to all antibiotics tested and showed different macrorestriction patterns by pulsed-field gel electrophoresis (Xbal-PFGE), with 84.25% similarity. The pattern AREXKX01.0072, detected in a HUS case and in his contact, is new in the Argentine National Database of non-O157 STEC. The use of standardized methods for detection and typing of STEC allows reference laboratories to monitor the temporal frequency and geographical distribution of circulating strains for the prevention and control of these pathogens associated with human diseases.

Escherichia coli produtora de toxina Shiga (STEC) O157:H7 é o sorotipo mais frequentemente identificado como o agente causador de colite hemorrágica e síndrome hemolítica urêmica (SHU), embora tenham sido descritas mais de 100 sorotipos com potencial patogênico semelhantes. O objectivo foi o de descrever os casos de doença humana associadas com a infecção por STEC O121:H19, assistido, na cidade de Mar del Plata e estabelecer relação genética de isolados utilizando epidemiologia molecular. Um amplo espectro foi observado na severidade clínica dos oito casos estudados, dois eram assintomáticos (contacto SHU), uma paciente teve diarreia com sangue, e cinco tiveram SHU. Um caso de SHU faleceu. As cepas O121:H19 portaram o genótipo stx2a/eae/ehxA, foram sensíveis aos antibióticos testados e apresentaram, por eletroforese em gel de campo pulsado (Xbal-PFGE), diferentes padrões de macrorestrição, com similaridade de 84,25%. O padrão AREXKX01.0072 detectado em SHU e em seu contato, é novo para a Base de Dados Nacional de STEC não-O157 na Argentina. O uso de métodos padrão de detecção e tipagem de STEC permite os laboratórios de referência monitorar frequência temporal e distribuição geográfica de estirpes circulantes para a prevenção e controlo destes agentes patogénicos associados com a doença humana.

Association of Estrogen Receptor alpha Genes PvuII and XbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

BACKGROUND: Estrogen plays a fundamental role in the pathogenesis of type 2 diabetes mellitus (T2DM). Very few studies have shown the association between estrogen receptor alpha (ERalpha), PvuII and XbaI gene polymorphisms with T2DM in both men and women. We evaluated the hypothesis that PvuII and XbaI polymorphisms of ERalpha gene may be associated with T2DM in adult. METHODS: From spring of 2010 to the fall of 2011, a case-control study was performed at clinical centers of Jahrom University of Medical Sciences. We included 174 patients with T2DM including men and women and 174 age, sex, and body mass index frequency-matched health controls. We analyzed the PvuII and XbaI polymorphisms of ERalpha by using the polymerase chain reaction-based restriction fragment length polymorphism method. RESULTS: No significant differences between demographic characteristics of control and patients groups were observed. Allele frequencies of both PvuII and XbaI polymorphisms were significantly different between patients and control subjects (P=0.014 vs. P=0.002, respectively). When the group was separated into women and men, logistic regression analysis of genotype distribution of PvuII (pp vs. Pp+PP) in both sexes revealed that there was no significant association of PvuII genotype with men (odds ratio [OR], 1.67; confidence interval [CI], 0.86 to 3.28; P=0.89) and women (OR, 0.96; CI, 0.53 to 1.74; P=0.12). CONCLUSION: PvuII and XbaI polymorphisms in ERalpha are related with T2DM in the inpatient population.

Estrogen Receptor Gene PvuII and XbaI Polymorphisms and Ultrasonographic Findings of Uterine Endometrium in Postmenopausal Women with Hormone Replacement Therapy / 대한산부인과학회지

OBJECTIVE: To explore the association of estrogen receptor (ER) alpha gene PvuII and XbaI polymorphisms and ultrasonographic findings of uterine endometrium. METHODS: Forty-five postmenopausal women undergoing hormone replacement therapy (HRT) were included in this study. Women were evaluated for PvuII and XbaI polymorphisms for ER alpha gene after extracting DNA from peripheral blood. The thickness and appearance of uterine endometrium was measured by transvaginal ultrasonography. The association of estrogen receptor gene PvuII and XbaI polymorphisms and ultrasonographic endometrial findings were analyzed. RESULTS: No statistically significant difference was found in endometrial thickness (pp 3.6 +/- 1.5 mm, Pp 4.2 +/- 1.6 mm, PP 3.5 +/- 1.3 mm) or endometrial appearance among the three different groups by PvuII polymorphism. No significant difference was also observed in endometrial thickness (xx 3.6 +/- 1.5 mm, Xx 4.2 +/- 1.4 mm) or endometrial appearance between the two groups of different XbaI genotypes. CONCLUSION: These results suggest that neither PvuII nor XbaI polymorphism of the estrogen receptor alpha gene may be associated with the ultrasonographic findings of uterine endometrium in postmenopausal women undergoing HRT. Further studies with a larger scale are necessary to confirm these data.

Estrogen Receptor Gene PvuII and XbaI Polymorphism in Patients with Endometriosis / 대한산부인과학회잡지

OBJECTIVE: To explore the association of the estrogen receptor PvuII and XbaI polymorphism with endometriosis. METHODS: One hundred sixty women with surgically or histologically diagnosed endometriosis of stages I-IV, and 142 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Frequency and distribution of PvuII and XbaI polymorphisms for estrogen receptor gene were evaluated. RESULTS: There was no statistically significant difference in the allele distribution of PvuII polymorphism between the patients and the controls (pp of 35%, pP of 51%, PP of 14% vs. 42%, 44%, 15%, p>0.1); or in the frequency of the positive PvuII allele (0.61 vs. 0.63, p>0.1). And no significant difference was also observed in the allele distribution of XbaI polymorphism between the patients and the controls (xx of 66%, xX of 29%, XX of 5% vs. 68%, 30%, 1%, p>0.1); or in the frequency of the positive XbaI allele (0.80 vs. 0.83, p>0.1). CONCLUSION: These results suggest that the PvuII or XbaI polymorphism of the estrogen receptor gene is not associated with the risk for endometriosis in the Korean population.

Molecular Genetic Diagnosis of Hemophilia A by Linkage Analysis of XbaI/intron 22 DNA Polymorphism Using PCR / 대한산부인과학회잡지

OBJECTIVE: To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. DESIGN: A laboratory analysis. MATERIALS AND METHODS: A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. RESULTS: Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.