Black esophagus as an uncommon cause of gastrointestinal bleeding.

Black esophagus (BE) or Acute esophageal necrosis (AEN) is rare clinical entity with an estimated incidence of 0.01-0.2% of patiens undergoing esophagogastroduodenoscopy (EGD). BE is characterized by circumferential blackish coloration of the mucosa, with abrupt interruption at the esophagogastric junction level, secondary to hypoperfusion and ischemia. Upper gastrointestinal hemorrhage is the most common presentation (70-90%), being a rare cause of it. We present 3 cases that were admitted in our center for hematemesis.

Management and Outcomes of Bleeding Within 30 Days of Colonic Polypectomy in a Large, Real-Life, Multicenter Cohort Study.

BACKGROUND & AIMS: Management of delayed (within 30 days) postpolypectomy bleeding (DPPB) has not been standardized. Patients often undergo colonoscopies that do not provide any benefit. We aimed to identify factors associated with therapeutic intervention and active bleeding after DPPB. METHODS: We performed a retrospective study of 548 patients with bleeding within 30 days after an index polypectomy (DPPB; 71.9% underwent colonoscopy, 2.6% underwent primary angiographic embolization, and 25.5% were managed without intervention) at 6 tertiary centers in Spain, from January 2010 through September 2018. We collected demographic and medical data from patients. The primary outcomes were the need for therapeutic intervention and the presence of active bleeding during colonoscopy. RESULTS: A need for therapeutic intervention was associated independently with the use of antithrombotic agents, hemoglobin decrease greater than 2 g/dL, hemodynamic instability, and comorbidities (P < .05). The bleeding point during colonoscopy was identified in 344 patients; 74 of these patients (21.5%) had active bleeding. Active use of anticoagulants (odds ratio [OR], 2.6; 95% CI, 1.5-4.5), left-sided polyps (OR, 1.95; 95% CI, 1-3.8), prior use of electrocautery (OR, 2.6; 95% CI, 1.1-6.1), and pedunculated polyp morphology (OR, 1.8, 95% CI, 1-3.2) significantly increased the risk of encountering active bleeding. We developed a visual nomogram to estimate the risk of active bleeding. Overall, 43% of the cohort did not require any hemostatic therapy. Rebleeding (<6%) and transfusion requirements were low in those managed without intervention. CONCLUSIONS: In a study of patients with DPPB, we found that almost half do not warrant any therapeutic intervention. Colonoscopy often is overused for patients with DPPB. We identified independent risk factors for active bleeding that might be used to identify patients most likely to benefit from colonoscopy.

The relationship between conformity to male and female gender norms and depression during pregnancy.

To analyze whether there is an association between conformity to male and female gender norms and the Edinburgh Postnatal Depression Scale (EPDS) score as an indicator of depression during pregnancy, a cross-sectional study was made to a sample of 200 pregnant women being seen at any of the public primary care centers in Segovia (Spain) for the prenatal care. A score of 13 points or higher on the Spanish version of the EPDS is considered to be an indicator of antenatal depression. The Conformity to Feminine Norms Inventory (CFNI-84) and the Conformity to Masculine Norms Inventory (CMNI-94) were used to determine the degree of conformity to gender norms. Descriptive and inferential statistics, as well as multivariate analysis, were carried out. Logistic regression analysis showed the Nice in Relationships Subscale score to be associated with a decreased risk of depression (OR = 0.88; 95%CI 0.79-0.98; p = 0.029). In addition, the CMNI total score, as well as the Self-Reliance subscale, were associated with an increased risk of depression (OR = 1.04; 95%CI 1.01-1.07; p = 0.022; OR = 1.30; 95%CI 1.08-1.55; p = 0.004, respectively). An association between conformity to male gender norms and nonconformity to some female gender norms in pregnant women and a score on the EPDS indicating depression during pregnancy was found. Particularly, an increase in the CMNI total score was associated to increased risk of suffering depression in the pregnant women studied.

Pancreatic panniculitis as a presentation symptom of acinar cell carcinoma.

Pancreatic panniculitis is a rare skin manifestation associated with pancreatic conditions. This condition has similar characteristics to those of other panniculitis types and its course parallels the triggering condition and may occasionally precede it. We report the case of a female patient with asymptomatic pancreatic panniculitis; the etiologic study identified a pancreatic acinar cell carcinoma with liver metastases.

FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies.

BACKGROUND: Schizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage. METHODS: Twenty-seven SNPs of FOXP2 were genotyped in a cohort of 293 patients with schizophrenia and 340 controls. We analyzed in particular the association with the poverty of speech and the intensity of auditory hallucinations. Potential expansion of three trinucleotide repeats of FOXP2 was also screened in a subsample. Methylation analysis of a CpG island, located in the first exon of the gene, was performed in post-mortem brain samples, as well as qRT-PCR analysis. RESULTS: A significant association was found between the SNP rs2253478 and the item Poverty of speech of the Manchester scale (p = 0.038 after Bonferroni correction). In patients, we detected higher degree of methylation in the left parahippocampus gyrus than in the right one. CONCLUSIONS: FOXP2 might be involved in the language disorder in patients with schizophrenia. Epigenetic factors might be also implicated in the developing of this disorder.

Serotonin transporter gene polymorphisms and auditory hallucinations in psychosis.

INTRODUCTION: To study the role of the serotonin transporter gene (SLC6A4) in the emotional processing of auditory hallucinations can be particularly important to better understand the pathophysiology of auditory hallucinations. Moreover, a poly-morphism located in this gene (5-HTTLPR) has been previously associated with different disorders related to altered emotional responses. The aim of this study was to evaluate the relationship between different polymorphisms of the SLC6A4 gene and different aspects of auditory hallucinations in schizophrenic patients, with a special consideration toward the emotional response to auditory hallucinations. SUBJECTS AND METHODS: Two samples of 224 patients with auditory hallucinations and 346 healthy subjects were studied. AH were assessed in patients through the PSYRATS scale for auditory hallucinations. Several polymorphisms located within the SLC6A4 gene were analysed through case-control comparisons as well as association analyses with different parameters of auditory hallucinations. RESULTS: No differences were found between patients and controls for any of the analysed polymorphisms (p > 0.05). However, the evaluation of auditory hallucinations parameters showed that the low expressing alleles of the 5-HTTLPR polymorphism were associated with higher levels of intensity of the distress caused by auditory hallucinations (p = 0.049 corrected for the item 'intensity of distress'). There was also a trend with the parameter disruption (p = 0.06 corrected). These two items of the PSYRATS scale are directly related to the emotional dimension of auditory hallucinations. In contrast, we did not observe any association with items related to other dimensions of auditory hallucinations. CONCLUSIONS: Our results support a possible role of the serotonin transporter in the emotional response to auditory hallucinations.

Prediction of postpartum depression using multilayer perceptrons and pruning.

OBJECTIVE: The main goal of this paper is to obtain a classification model based on feed-forward multilayer perceptrons in order to improve postpartum depression prediction during the 32 weeks after childbirth with a high sensitivity and specificity and to develop a tool to be integrated in a decision support system for clinicians. MATERIALS AND METHODS: Multilayer perceptrons were trained on data from 1397 women who had just given birth, from seven Spanish general hospitals, including clinical, environmental and genetic variables. A prospective cohort study was made just after delivery, at 8 weeks and at 32 weeks after delivery. The models were evaluated with the geometric mean of accuracies using a hold-out strategy. RESULTS: Multilayer perceptrons showed good performance (high sensitivity and specificity) as predictive models for postpartum depression. CONCLUSIONS: The use of these models in a decision support system can be clinically evaluated in future work. The analysis of the models by pruning leads to a qualitative interpretation of the influence of each variable in the interest of clinical protocols.

Gypsy endogenous retrovirus maintains potential infectivity in several species of Drosophilids.

BACKGROUND: Sequences homologous to the gypsy retroelement from Drosophila melanogaster are widely distributed among drosophilids. The structure of gypsy includes an open reading frame resembling the retroviral gene env, which is responsible for the infectious properties of retroviruses. RESULTS: In this study we report molecular and phylogeny analysis of the complete env gene from ten species of the obscura group of the genus Drosophila and one species from the genus Scaptomyza. CONCLUSION: The results indicate that in most cases env sequences could produce a functional Env protein and therefore maintain the infectious capability of gypsy in these species.

Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction.

Recent reports indicate that DAO, DAOA, DTNBP1, NRG1 and RGS4 are some of the most-replicated genes implicated in susceptibility to schizophrenia. Also, the functions of these genes could converge in a common pathway of glutamate metabolism. The aim of this study was to evaluate if each of these genes, or their interaction, was associated with schizophrenia. A case-control study was conducted in 589 Spanish patients having a diagnosis of schizophrenia, and compared with 617 equivalent control subjects. Several single nucleotide polymorphisms (SNPs) in each gene were determined in all individuals. SNP and haplotype frequencies were compared between cases and controls. The interaction between different SNPs at the same, or at different gene, loci was analyzed by the multifactor dimensionality reduction (MDR) method. We found a new schizophrenia risk and protective haplotypes in intron VII of DTNBP1; one of the most important candidate genes for this disorder, to-date. However, no association was found between DAO, DAOA, NRG1 and RGS4 and schizophrenia. The hypothesis that gene-gene interaction in these five genes could increase the risk for the disorder was not confirmed in the present study. In summary, these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes. In the light of recent data, these results need to be interpreted with caution and future analyses with dense genetic maps are awaited.

Association between CCK-AR gene and schizophrenia with auditory hallucinations.

OBJECTIVE: Previous studies on a possible association between CCK-AR polymorphisms and schizophrenia have been controversial. The aim of the present study was to assess a potential association between schizophrenic patients with auditory hallucinations and polymorphisms of the CCK-AR gene. METHODS: A set of single nucleotide polymorphisms mainly located in the regulatory region of the CCK-AR gene was analysed in a sample of 163 Diagnostic and statistical manual of mental disorders-IV-diagnosed schizophrenic patients and 162 healthy controls. RESULTS: Significant differences in the genotype (P=0.011) and allele (P=0.0009) frequencies of the +121C/G SNP (located in the 5' regulatory region) were found between patients and controls. The excess of the C allele in the patient group remained significant after Bonferroni correction (P=0.03). However, functional in vitro assays, did not reveal significant differences on gene expression between +121G and +121C alleles of this SNP. Further investigations revealed two risk haplotypes: +121C/+978A/+984T (P=0.01) and +121C/+978T/+984C (P=0.0091) as well as a protective haplotype: +121G/+978T/+984T (P=0.0001). CONCLUSION: Our data support a possible role of the CCK-AR gene in the vulnerability to schizophrenia in patients with auditory hallucinations, and suggest remarkable allele heterogeneity.

Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations.

OBJECTIVE: A mutation in the FOXP2 gene has been the first genetic association with a language disorder. Language disorder is considered as a core symptom of schizophrenia. Therefore, the FOXP2 gene could be considered a good candidate gene for the vulnerability to schizophrenia. METHODS: A set of single nucleotide polymorphisms mainly located in the 5' regulatory region of the FOXP2 gene was analysed in a sample of 186 DSM-IV schizophrenic patients with auditory hallucinations and in 160 healthy controls. RESULTS: Statistically significant differences in the genotype (P=0.007) and allele frequencies (P=0.0027) between schizophrenic patients with auditory hallucinations and controls were found in the single nucleotide polymorphism rs2396753. These P values changed to 0.07 and 0.0273, respectively, after Bonferroni sequential correction. The haplotype rs7803667T/rs10447760C/rs923875A/rs1358278A/rs2396753A (TCAAA) also showed a significant difference confirmed with a permutation test (P=0.009). CONCLUSIONS: These results suggested that the FOXP2 gene may confer vulnerability to schizophrenic patients with auditory hallucinations.

FOXP2 polymorphisms in patients with schizophrenia.

BACKGROUND: FOXP2 was described as the first gene involved in our ability to acquire spoken language. The main objective of this study was to compare the distribution of FOXP2 gene polymorphisms between patients with schizophrenia and healthy controls. METHODS: Two FOXP2 polymorphisms, Intron3a and SNP 923875, and the G-->A transition in exon 14 were analysed in 149 patients with schizophrenia and schizoaffective disorders according to DSM-IV, as well as in 137 controls. All the patients showed a history of auditory hallucinations. RESULTS: The transition G-->A at exon 14, detected in all the affected members in KE family, was not found in any of the analyzed samples from patients or controls. No significant differences were found between individual controls and patients for the two analysed polymorphisms. CONCLUSIONS: This study would not support a possible role of the two FOXP2 analyzed polymorphisms in the vulnerability to schizophrenia.

Evolutionary patterns of the gypsy and bilbo retrotransposon families in the Drosophila species of the obscura group.

We analyse in this paper the evolutionary patterns of two types of Drosophila retrotransposons, gypsy (a virus-like element), and bilbo (a LINE-like element), in host species from the Drosophila and Scaptomyza genus. Phylogenetic analysis of the retrotransposon sequences amplified by PCR, revealed concordance with the phylogeny of the Drosophila host species from the obscura group, which is consistent with vertical transmission during differentiation of the species. However, in the species outside of the obscura group, horizontal transmission can be considered. The amplified sequences that presented intact open reading frames were used in an analysis of the evolutionary constraints on the amino acid sequences. The analysed sequences seem to be functional, and the selective constraints are evidenced, especially when sequences from distant species are compared. Comparison of the evolutionary rates of both retrotransposons in the same species, suggests that bilbo seems to evolve more rapidly than gypsy.

The polytene dot chromosome of Drosophila: D. melanogaster and D. subobscura.

The chromosome arms are assumed to be homologous within the genus Drosophila. Homology at the level of the polytene chromosome banding pattern between non-sibling species is, however, almost impossible to establish as different processes such as inversion, transposition and unequal crossing over, have disturbed it. Even though the band sequences cannot be followed, we may ask whether there is a correlation in the total number of bands between species. The polytene dot chromosome is an excellent starting point for such an approach. Here we present the detailed cytology of polytene chromosome 4 of D. melanogasterand the polytene dot chromosome of D. subobscura using electron microscopy. The results show that the number of bands is about the same, around 30, in both species. We predict that by using thin sections and electron microscopy for the longer polytene chromosome arms, both species will turn out to have approximately equal band numbers.

PATTERNS OF PUFFING ACTIVITY AND CHROMOSOMAL POLYMORPHISM IN DROSOPHILA SUBOBSCURA. IV. EFFECT OF INVERSIONS ON GENE EXPRESSION.

We have observed that, contrary to a common assumption, the puffing patterns manifest in the salivary chromosomes of Drosophila subobscura are modified by chromosomal inversions as well as by genic content. An inversion effect is apparent in the E and A chromosomes of five strains coming from four different natural populations. An effect due to the geographical location of the populations is also detected in the J and O chromosomes. The chromosomal and geographic effects are distinguishable but not contradictory. Indeed, a statistical test using the DK2 coefficient of distance shows that, for a given chromosomal arrangement, strains of different geographic origin exhibit puffing patterns significantly different; these patterns are, however, more similar to each other than they are to those of strains carrying different chromosomal arrangements of the same chromosome.