Actualidad del Síndrome de Munchausen: su médico, su cuerpo y su dolor.

A propósito de seis casos, con probable diagnóstico de Síndrome de Munchausen, se hace una revisión bibliográfica de los tres últimos años, al mismo tiempo que mediante tests proyectivos se intenta buscar características comunes en este síndrome, así como se hace un intento de aproximación psicodinámica a dicho síndrome

Actualidad del Síndrome de Munchausen: su médico, su cuerpo y su dolor.

A propósito de seis casos, con probable diagnóstico de Síndrome de Munchausen, se hace una revisión bibliográfica de los tres últimos años, al mismo tiempo que mediante tests proyectivos se intenta buscar características comunes en este síndrome, así como se hace un intento de aproximación psicodinámica a dicho síndrome

Risk of miscarriage after chorionic villus sampling.

OBJECTIVE: To estimate the risk of miscarriage associated to chorionic villus sampling (CVS). METHODS: This was a retrospective cohort study performed in eight fetal-medicine units in Spain, Belgium and Bulgaria. Two populations were included: first, all singleton pregnancies attending to their first-trimester assessment in Murcia, Spain, and second, all singleton pregnancies having a CVS following first-trimester assessment at any of the participating centers. We used propensity score matching analysis to estimate the association between CVS and miscarriage. We compared risks of miscarriage of CVS and non-CVS groups after propensity score matching (1:1 ratio). This procedure creates two comparable groups balancing the maternal and pregnancy characteristics that lead to CVS, in a similar way in which randomization operates in a randomized clinical trial. RESULTS: The study population consisted of 22,250 participants in the non-CVS group and 3,613 in the CVS group. The incidence of miscarriage in the CVS group was 2.1% (77/3,613), which was significantly higher than the 0.9% (207/22,250) in the non-CVS group (p <0.001). The propensity score algorithm matched 2,122 CVS cases with 2,122 non-CVS cases including 40 (1.9%) and 55 (2.6%) miscarriages in the CVS and non-CVS groups, respectively (OR 0.72 [95% CI 0.48 to 1.10]; p = 0.146). However, we found a significant interaction between the CVS risk of miscarriage and the risk of aneuploidies, suggesting a different effect of the CVS for different baseline characteristics in such a way that, when the risk of aneuploidies is low, the risk after CVS increases (OR 2.87 [95% CI 1.13 to 7.30]) but when the risk is high, the risk after CVS is paradoxically reduced (OR 0.47 [95% CI 0.28 to 0.76]), presumably due to prenatal diagnosis and termination of major aneuploidies that would have otherwise resulted in spontaneous miscarriage. CONCLUSIONS: The risk of miscarriage in women having a CVS is about 1% higher than in women without CVS, although this excess risk is not entirely due to the invasive procedure but to some extent the demographic and pregnancy characteristics of the patient undergoing CVS. After accounting for these risk factors and confining the analysis to low-risk pregnancies, CVS seems to increase the risk of miscarriage about three times above the patient's background-risk. Although this is a substantial increase in relative terms, in pregnancies without risk factors, the risk of miscarriage after CVS will still remain low and similar to or slightly higher than that of the general population. For example, if her risk of aneuploidy is 1 in a 1,000 (0.1%), her risk of miscarriage after CVS will increase to 0.3% (0.2% higher)

Sorsby syndrome: Report of a case representing the second reported family

Dismorfología y Genética ClínicaIn 1935, Sorsby [Br J Ophthalmol. 1935; 19:65-90] described a family with several affected individuals presenting with bilateral coloboma of macula, type B brachydactyly affecting hands and feet, and unilateral renal agenesis in one of its members. We describe a newborn girl presenting with the same pattern of congenital anomalies as the patients of the family originally described by Sorsby (OMIM 120400). However, the current case has as additional findings a single umbilical artery, and an anomaly of pulmonary vascularization consisting in: a ring in the lower right lobar artery and sequestration of the lower right lung lobe. Therefore, despite that our patient adds new clinical variability, it is not possible to disregard the diagnosis of Sorsby syndrome, because such clinical variability was also observed in the affected members of the original family described by Sorsby and some individuals of the next generations of the same family, according to the report by Thompson and Baraitser [J Med Genet. 1988; 25:313-321]. Based on the observed genealogy pattern of affected members in the only family published, it is considered that this syndrome is due to an autosomal dominant gene. The baby described here, is the first case in the family. She had a normal karyotype (~850 bands) and the subtelomeric Multi-FISH was also normal. Her father was 39 years old and, therefore, an age-related new mutation could be evaluated. The frequency of Sorsby syndrome is unknown, since only the original family has been published so far. However, as the case described here is part of the ECEMC Registry, we can estimate that its frequency is at least 1:2,750,000 newborn infants. We consider that, even in the “molecular era”, it remains important to clinically describe those extremely rare syndromes, in order to define their characteristics and clinical expressions. These aspects are essential to define the prognosis, clinical management and information to the family, and can help also to determine the gene(s) or pathogenetic pathways involved in their origin.N

Multimodal intervention for preventing peripheral intravenous catheter failure in adults (PREBACP): a multicentre, cluster-randomised, controlled trial

Availability of data and materials: The datasets generated during and/or analysed during the current study are available upon request from group investigation. The data are available beginning 3 months and ending 5 years following article publication for to investigators, whose proposed use of data will have been approved by an independent review committee identified for to realise an individual participant data meta-analysis. Proposals may be submitted up to 36 months following article publication to IB-M ([email protected]) and EC-S ([email protected]).The College of Nurses of the Balearic Islands under award number PI2017/0192

Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency

Induced pluripotent stem cells (iPSCs) are a powerful tool for disease modeling. They are routinely generated from healthy donors and patients from multiple cell types at different developmental stages. However, reprogramming leukemias is an extremely inefficient process. Few studies generated iPSCs from primary chronic myeloid leukemias, but iPSC generation from acute myeloid or lymphoid leukemias (ALL) has not been achieved. We attempted to generate iPSCs from different subtypes of B-ALL to address the developmental impact of leukemic fusion genes. OKSM(L)-expressing mono/polycistronic-, retroviral/lentiviral/episomal-, and Sendai virus vector-based reprogramming strategies failed to render iPSCs in vitro and in vivo. Addition of transcriptomic-epigenetic reprogramming ‘‘boosters’’ also failed to generate iPSCs from B cell blasts and B-ALL lines, and when iPSCs emerged they lacked leukemic fusion genes, demonstrating non-leukemic myeloid origin. Conversely, MLL-AF4-overexpressing hematopoietic stem cells/B progenitors were successfully reprogrammed, indicating that B cell origin and leukemic fusion gene were not reprogramming barriers. Global transcriptome/DNA methylome profiling suggested a developmental/differentiation refractoriness of MLL-rearranged B-ALL to reprogramming into pluripotency

Clinical experience with integrase inhibitors in HIV-2-infected individuals in Spain.

Background: HIV-2 is a neglected virus despite estimates of 1–2 million people being infected worldwide. The virus is naturally resistant to some antiretrovirals used to treat HIV-1 and therapeutic options are limited for patients with HIV-2. Methods: In this retrospective observational study, we analysed all HIV-2-infected individuals treated with inte- grase strand transfer inhibitors (INSTIs) recorded in the Spanish HIV-2 cohort. Demographics, treatment modal- ities, laboratory values, quantitative HIV-2 RNA and CD4 counts as well as drug resistance were analysed. Results: From a total of 354 HIV-2-infected patients recruited by the Spanish HIV-2 cohort as of December 2017, INSTIs had been given to 44, in 18 as first-line therapy and in 26 after failing other antiretroviral regimens. After a median follow-up of 13 months of INSTI-based therapy, undetectable viraemia for HIV-2 was achieved in 89% of treatment-naive and in 65.4% of treatment-experienced patients. In parallel, CD4 gains were 82 and 126cells/mm3, respectively. Treatment failure occurred in 15 patients, 2 being treatment-naive and 13 treatment-experienced. INSTI resistance changes were recognized in 12 patients: N155H (5), Q148H/R (3), Y143C/G (3) and R263K (1). Conclusions: Combinations based on INSTIs are effective and safe treatment options for HIV-2-infected individ- uals. However, resistance mutations to INSTIs are selected frequently in failing patients, reducing the already limited treatment options

The first hominin of Europe

The earliest hominin occupation of Europe is one of the most debated topics in palaeoanthropology. However, the purportedly oldest of the Early Pleistocene sites in Eurasia lack precise age control and contain stone tools rather than human fossil remains(1-5). Here we report the discovery of a human mandible associated with an assemblage of Mode 1 lithic tools and faunal remains bearing traces of hominin processing, in stratigraphic level TE9 at the site of the Sima del Elefante, Atapuerca, Spain(6-8). Level TE9 has been dated to the Early Pleistocene ( approximately 1.2 - 1.1 Myr), based on a combination of palaeomagnetism, cosmogenic nuclides and biostratigraphy. The Sima del Elefante site thus emerges as the oldest, most accurately dated record of human occupation in Europe, to our knowledge. The study of the human mandible suggests that the first settlement of Western Europe could be related to an early demographic expansion out of Africa. The new evidence, with previous findings in other Atapuerca sites ( level TD6 from Gran Dolina(9-13)), also suggests that a speciation event occurred in this extreme area of the Eurasian continent during the Early Pleistocene, initiating the hominin lineage represented by the TE9 and TD6 hominins.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/62855/1/nature06815.pd

LAL Regulators SCO0877 and SCO7173 as Pleiotropic Modulators of Phosphate Starvation Response and Actinorhodin Biosynthesis in Streptomyces coelicolor

LAL regulators (Large ATP-binding regulators of the LuxR family) constitute a poorly studied family of transcriptional regulators. Several regulators of this class have been identified in antibiotic and other secondary metabolite gene clusters from actinomycetes, thus they have been considered pathway-specific regulators. In this study we have obtained two disruption mutants of LAL genes from S. coelicolor (Δ0877 and Δ7173). Both mutants were deficient in the production of the polyketide antibiotic actinorhodin, and antibiotic production was restored upon gene complementation of the mutants. The use of whole-genome DNA microarrays and quantitative PCRs enabled the analysis of the transcriptome of both mutants in comparison with the wild type. Our results indicate that the LAL regulators under study act globally affecting various cellular processes, and amongst them the phosphate starvation response and the biosynthesis of the blue-pigmented antibiotic actinorhodin. Both regulators act as negative modulators of the expression of the two-component phoRP system and as positive regulators of actinorhodin biosynthesis. To our knowledge this is the first characterization of LAL regulators with wide implications in Streptomyces metabolism