CUERPO Y CORPORALIDAD DESDE EL VIVENCIAR FEMENINO

Este artículo revisa las acepciones comunes de los términos "cuerpo" y "corporalidad", las distingue y las sitúa en la vivencia de la imagen corporal femenina actual. Desde este análisis, propone algunas explicaciones en torno del culto al cuerpo, la vigorexia y los trastornos alimentarios. Concluye proponiendo un viraje desde la somatolisis actual a un proceso de integración cuerpo-corporalida

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals. We found a significant association (FDR p < 0.05) of the CTD subset with 62 common variants in a single linkage disequilibrium (LD) block in a 350 kb interval harboring CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64-4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21 × 10-5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression

HER2-enriched subtype and novel molecular subgroups drive aromatase inhibitor resistance and an increased risk of relapse in early ER+/HER2+ breast cancer

BACKGROUND: Oestrogen receptor positive/ human epidermal growth factor receptor positive (ER+/HER2+) breast cancers (BCs) are less responsive to endocrine therapy than ER+/HER2- tumours. Mechanisms underpinning the differential behaviour of ER+HER2+ tumours are poorly characterised. Our aim was to identify biomarkers of response to 2 weeks’ presurgical AI treatment in ER+/HER2+ BCs. METHODS: All available ER+/HER2+ BC baseline tumours (n=342) in the POETIC trial were gene expression profiled using BC360™ (NanoString) covering intrinsic subtypes and 46 key biological signatures. Early response to AI was assessed by changes in Ki67 expression and residual Ki67 at 2 weeks (Ki672wk). Time-To-Recurrence (TTR) was estimated using Kaplan-Meier methods and Cox models adjusted for standard clinicopathological variables. New molecular subgroups (MS) were identified using consensus clustering. FINDINGS: HER2-enriched (HER2-E) subtype BCs (44.7% of the total) showed poorer Ki67 response and higher Ki672wk (p<0.0001) than non-HER2-E BCs. High expression of ERBB2 expression, homologous recombination deficiency (HRD) and TP53 mutational score were associated with poor response and immune-related signatures with High Ki672wk. Five new MS that were associated with differential response to AI were identified. HER2-E had significantly poorer TTR compared to Luminal BCs (HR 2.55, 95% CI 1.14–5.69; p=0.0222). The new MS were independent predictors of TTR, adding significant value beyond intrinsic subtypes. INTERPRETATION: Our results show HER2-E as a standardised biomarker associated with poor response to AI and worse outcome in ER+/HER2+. HRD, TP53 mutational score and immune-tumour tolerance are predictive biomarkers for poor response to AI. Lastly, novel MS identify additional non-HER2-E tumours not responding to AI with an increased risk of relapse

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

The 22q11.2 deletion syndrome is caused by non‐allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A‐D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation‐SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B‐D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort

Conducta suicida en el hospital general

The authors analize the current characteristics of suicidal behaviour. They also propose, throught the article, an Intervention Protocol that could be used at the emergency Service of the Clinical Hospital of U. de Chile

Body and corporality from a feminine stance

Este artículo revisa las acepciones comunes de los términos "cuerpo" y "corporalidad", las distingue y las sitúa en la vivencia de la imagen corporal femenina actual. Desde este análisis, propone algunas explicaciones en torno del culto al cuerpo, la vigorexia y los trastornos alimentarios. Concluye proponiendo un viraje desde la somatolisis actual a un proceso de integración cuerpo-corporalidad

Corpo e corporalidade a partir da vivência feminina

This paper review the common definitions of body and corporality. These are distinguished and settled in the current feminine corporal image. From this analysis it proposes some explanations in relation to the body worship, the "vigorexia" and the alimentary disorders. This paper concludes proposing a change from the current "somatolysis" to an integrative process of the body and corporality.Este artículo revisa las acepciones comunes de los términos "cuerpo" y "corporalidad", las distingue y las sitúa en la vivencia de la imagen corporal femenina actual. Desde este análisis, propone algunas explicaciones en torno del culto al cuerpo, la vigorexia y los trastornos alimentarios. Concluye proponiendo un viraje desde la somatolisis actual a un proceso de integración cuerpo-corporalidad.Este artigo revisa os conceitos comuns dos termos "corpo" e "corporalidade", as distingue e as situa na vivência da imagem corporal feminina atual. Desde esta análise, propõe algumas explicações em torno ao culto do corpo, a anorexia e os tanstornos alimentares. Conclui porpondo um olhar a partir da "somatolises" atual a um processo de integração corpo-corporalidade

Corpo e corporalidade a partir da vivência feminina

This paper review the common definitions of body and corporality. These are distinguished and settled in the current feminine corporal image. From this analysis it proposes some explanations in relation to the body worship, the "vigorexia" and the alimentary disorders. This paper concludes proposing a change from the current "somatolysis" to an integrative process of the body and corporality.Este artículo revisa las acepciones comunes de los términos "cuerpo" y "corporalidad", las distingue y las sitúa en la vivencia de la imagen corporal femenina actual. Desde este análisis, propone algunas explicaciones en torno del culto al cuerpo, la vigorexia y los trastornos alimentarios. Concluye proponiendo un viraje desde la somatolisis actual a un proceso de integración cuerpo-corporalidad.Este artigo revisa os conceitos comuns dos termos "corpo" e "corporalidade", as distingue e as situa na vivência da imagem corporal feminina atual. Desde esta análise, propõe algumas explicações em torno ao culto do corpo, a anorexia e os tanstornos alimentares. Conclui porpondo um olhar a partir da "somatolises" atual a um processo de integração corpo-corporalidade