Brucella terminal ileitis: a rare cause of intestinal obstruction about a case

Brucellosis is a bacterial zoonosis transmitted by contact with fluids from infected domestic animals, by consumption of unpasteurized milk products, or by inhalation of infected aerosols. Systemic infection has clinical manifestations from asymptomatic cases to those that are fatal. Focal infections occur in 30% of cases and affect any organ. Gastrointestinal manifestations are rare and unspecific. We reported the case of a patient with antithrombin III deficiency who presented with a clinical picture of abdominal pain at the emergency department, with failure of conservative treatment and with progression to acute abdomen, for which surgical treatment was offered, resolving the condition of intestinal obstruction and taking a biopsy that confirmed terminal brucella ileitis, antibiotic treatment and intestinal rest were indicated with successful results. Brucella terminal ileitis is an unusual manifestation of brucellosis. History of consumption of unpasteurized milk and derivatives and contact with livestock should be carefully examined in patients with acute abdomen in Brucella endemic countries. This will lead to a full and uncomplicated recovery from this disease

Absence of maternal methylation in biparental hydatidiform moles from women with NLRP7 maternal-effect mutations reveals widespread placenta-specific imprinting

Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are associated with aberrant genomic imprinting. However no systematic analyses for imprinting defects have been reported. Here, we present the genome-wide methylation profiles of both spontaneous androgenetic and biparental NLRP7 defective molar tissues. We observe total paternalization of all ubiquitous and placenta-specific differentially methylated regions (DMRs) in four androgenetic moles; namely gain of methylation at paternally methylated loci and absence of methylation at maternally methylated regions. The methylation defects observed in five RHM biopsies from NLRP7 defective patients are restricted to lack-of-methylation at maternal DMRs. Surprisingly RHMs from two sisters with the same missense mutations, as well as consecutive RHMs from one affected female show subtle allelic methylation differences, suggesting inter-RHM variation. These epigenotypes are consistent with NLRP7 being a maternal-effect gene and involved in imprint acquisition in the oocyte. In addition, bioinformatic screening of the resulting methylation datasets identified over sixty loci with methylation profiles consistent with imprinting in the placenta, of which we confirm 22 as novel maternally methylated loci. These observations strongly suggest that the molar phenotypes are due to defective placenta-specific imprinting and over-expression of paternally expressed transcripts, highlighting that maternal-effect mutations of NLRP7 are associated with the most severe form of multi-locus imprinting defects in humans

Human Oocyte-derived Methylation Differences Persist In The Placenta Revealing Widespread Transient Imprinting

Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. Here we present the data describing the fate of germline-derived methylation in humans. With the exception of a few known paternally methylated germline differentially methylated regions (DMRs) associated with known imprinted domains, we demonstrate that sperm-derived methylation is reprogrammed by the blastocyst stage of development. In contrast a large number of oocyte-derived methylation differences survive to the blastocyst stage and uniquely persist as transiently methylated DMRs only in the placenta. Furthermore, we demonstrate that this phenomenon is exclusive to primates, since no placenta-specific maternal methylation was observed in mouse. Utilizing single cell RNA-seq datasets from human preimplantation embryos we show that following embryonic genome activation the maternally methylated transient DMRs can orchestrate imprinted expression. However despite showing widespread imprinted expression of genes in placenta, allele-specific transcriptional profiling revealed that not all placenta-specific DMRs coordinate imprinted expression and that this maternal methylation may be absent in a minority of samples, suggestive of polymorphic imprinted methylation

Human oocyte-derived methylation differences persist in the placenta revealing widespread transient imprinting

Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. Here we present the data describing the fate of germline-derived methylation in humans. With the exception of a few known paternally methylated germline differentially methylated regions (DMRs) associated with known imprinted domains, we demonstrate that sperm-derived methylation is reprogrammed by the blastocyst stage of development. In contrast a large number of oocyte-derived methylation differences survive to the blastocyst stage and uniquely persist as transiently methylated DMRs only in the placenta. Furthermore, we demonstrate that this phenomenon is exclusive to primates, since no placenta-specific maternal methylation was observed in mouse. Utilizing single cell RNA-seq datasets from human preimplantation embryos we show that following embryonic genome activation the maternally methylated transient DMRs can orchestrate imprinted expression. However despite showing widespread imprinted expression of genes in placenta, allele-specific transcriptional profiling revealed that not all placenta-specific DMRs coordinate imprinted expression and that this maternal methylation may be absent in a minority of samples, suggestive of polymorphic imprinted methylation

he safety of the radiological patient, measurement through the legibility of the consent informed

OBJETIVO: Evaluar la legibilidad de los documentos de consentimiento informado (CI) que utiliza el Servicio de Radiodiagnóstico (RXD) de la Xerencia de Xestión Integrada de Ferrol (XXIF). METODOLOGÍA: Estudio observacional descriptivo realizado en 2015. Selección de todos los C.I. disponibles en el RXD del XXIF. Uso del método de legibilidad de Flesch-Szigriszt . Análisis de textos a través del programa informático INFLESZ® RESULTADOS:Se evaluaron 33 documentos de C.I. específicos de RX. CONCLUSIONES: La legibilidad no es un método exacto, pero si indicativo de lo compleja que puede llegar a ser la información escrita. Los valores de legibilidad obtenidos en este estudio nos “advierten” de que los pacientes realmente pueden no comprender toda la información que se les está intentando transmitir y que deben revisarse para lograr mayor comprensión y seguridad para el paciente.OBJECTIVE: To evaluate the readability of the documents of informed consent (CI) used by the Radiodiagnosis Service (RXD) of the Integrated Management of Ferrol Xerencia (XXIF). METHODOLOGY: Descriptive observational study conducted in 2015. Selection of all C.I. available in the RXD of the XXIF. Use of the readability method of Flesch-Szigriszt. Text analysis through the INFLESZ® computer program RESULTS: 33 documents from C.I. specific to RX. CONCLUSIONS: Readability is not an exact method, but it is indicative of how complex written information can be. The readability values obtained in this study "warn" that patients may not really understand all the information that they are trying to transmit and that they should be reviewed to achieve greater understanding and safety for the patient.Comunicación - póster presentada en VI Xornadas de calidade e seguridade do Sergas. V Congreso de calidade e seguridade de SOGALCA. "Ética, valores y derechos: componentes de la calidad", celebrado en Santiago de Compostela el 3 y 4 de junio de 2015

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are associated with aberrant genomic imprinting. However no systematic analyses for imprinting defects have been reported. Here, we present the genome-wide methylation profiles of both spontaneous androgenetic and biparental NLRP7 defective molar tissues. We observe total paternalization of all ubiquitous and placentaspecific differentially methylated regions (DMRs) in four androgenetic moles; namely gain of methylation at paternally methylated loci and absence of methylation at maternally methylated regions. The methylation defects observed in five RHM biopsies from NLRP7 defective patients are restricted to lack-of-methylation at maternal DMRs. Surprisingly RHMs from two sisters with the same missense mutations, as well as consecutive RHMs from one affected female show subtle allelic methylation differences, suggesting inter-RHM variation. These epigenotypes are consistent with NLRP7 being a maternal-effect gene and involved in imprint acquisition in the oocyte. In addition, bioinformatic screening of the resulting methylation datasets identified over sixty loci with methylation profiles consistent with imprinting in the placenta, of which we confirm 22 as novel maternally methylated loci. These observations strongly suggest that the molar phenotypes are due to defective placenta-specific imprinting and over-expression of paternally expressed transcripts, highlighting that maternal-effect mutations of NLRP7 are associated with the most severe form of multi-locus imprinting defects in humans

Human Oocyte-derived Methylation Differences Persist In The Placenta Revealing Widespread Transient Imprinting

Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. Here we present the data describing the fate of germline-derived methylation in humans. With the exception of a few known paternally methylated germline differentially methylated regions (DMRs) associated with known imprinted domains, we demonstrate that sperm-derived methylation is reprogrammed by the blastocyst stage of development. In contrast a large number of oocyte-derived methylation differences survive to the blastocyst stage and uniquely persist as transiently methylated DMRs only in the placenta. Furthermore, we demonstrate that this phenomenon is exclusive to primates, since no placenta-specific maternal methylation was observed in mouse. Utilizing single cell RNA-seq datasets from human preimplantation embryos we show that following embryonic genome activation the maternally methylated transient DMRs can orchestrate imprinted expression. However despite showing widespread imprinted expression of genes in placenta, allele-specific transcriptional profiling revealed that not all placenta-specific DMRs coordinate imprinted expression and that this maternal methylation may be absent in a minority of samples, suggestive of polymorphic imprinted methylation