No abstract

Retinitis pigmentosa (RP) is a rare genetic disease that causes gradual blindness through retinal degeneration. Intriguingly, seven of the 24 genes identified as responsible for the autosomal-dominant form (adRP) are ubiquitous spliceosome components whose impairment causes disease only in the retina. The fact that these proteins are essential in all organisms hampers genetic, genomic, and physiological studies, but we addressed these difficulties by using RNAi in Caenorhabditis elegans. Our study of worm phenotypes produced by RNAi of splicing-related adRP (s-adRP) genes functionally distinguishes between components of U4 and U5 snRNP complexes, because knockdown of U5 proteins produces a stronger phenotype. RNA-seq analyses of worms where s-adRP genes were partially inactivated by RNAi, revealed mild intron retention in developing animals but not in adults, suggesting a positive correlation between intron retention and transcriptional activity. Interestingly, RNAi of s-adRP genes produces an increase in the expression of atl-1 (homolog of human ATR), which is normally activated in response to replicative stress and certain DNA-damaging agents. The up-regulation of atl-1 correlates with the ectopic expression of the pro-apoptotic gene egl-1 and apoptosis in hypodermal cells, which produce the cuticle, but not in other cell types. Our model in C. elegans resembles s-adRP in two aspects: The phenotype caused by global knockdown of s-adRP genes is cell type-specific and associated with high transcriptional activity. Finally, along with a reduced production of mature transcripts, we propose a model in which the retina-specific cell death in s-adRP patients can be induced through genomic instability.

Objective. Transesophageal echocardiography (TEE)-guided cardioversion is an established strategy for managing atrial arrhythmias and is commonly used as an alternative to the conventional approach of administering several weeks of anticoagulation before cardioversion. However, the safety of this approach depends on the exclusion of left atrial appendage (LAA) thrombi with a high level of diagnostic confidence. The objective of this case series is to explore the use of real-time 3-dimensional (RT3D) TEE in the precardioversion evaluation of patients with complex anatomy in their LAAs. Methods. We used RT3D TEE to further assess the LAAs of 3 patients being evaluated for cardioversion who had inconclusive 2-dimensional (2D) TEE studies because of complex anatomic variants of the LAA. We imaged the LAA using the 3D zoom mode and rotated this image to view the LAA en face from the perspective of its ostium. Further cropping was performed as needed. Results. In all 3 patients, the additional views of the appendage obtained by RT3D TEE were decisive in excluding contraindications to cardioversion. The unique en face view of the LAA acquired with 3D TEE, which was previously unobtainable using 2D TEE, was particularly useful. In 1 patient, a bilobed LAA mimicked a thrombus. In 2 other patients, prominent pectinate muscles masqueraded as thrombi. Conclusions. Three-dimensional TEE is valuable for the precardioversion evaluation of patients with complex anatomic variants of the LAA.

RESUMOIntrodução: A incontinência urinária pode afetar até 50% das mulheres em alguma fase das suas vidas, nomeadamente durante a gravidez. Este estudo foi desenhado com a finalidade de identificar e avaliar a prevalência e fatores de risco para incontinência urinária durante o terceiro trimestre da gravidez e três meses após o parto. No total (n = 237), 51,89% das mulheres incluídas no estudo, relataram a ocorrência de incontinência urinária durante a gravidez. A prevalência da incontinência urinária na gravidez, segundo a paridade (primíparas versus multíparas), foi estatisticamente significativa (p = 0,006). No pós-parto (n = 237), 28,69% das mulheres com incontinência urinária tiveram parto vaginal e 5,91% das mulheres foram submetidas a cesariana (p = 0,001). Neste grupo de mulheres com incontinência urinária pós-parto (n = 82), 31,69% apresentaram incontinência urinária de novo e 68,31% das mulheres já apresentavam sintomatologia durante a gravidez (p < 0,001). Discussão: Este estudo demonstra a elevada prevalência da incontinência urinária na gravidez e a respetiva redução no pós-parto. Conclusão:A multiparidade e a ocorrência de incontinência urinária na gravidez surgem como possíveis fatores de risco no aparecimento da incontinência urinária. Palavras-chave: Complicações na Gravidez; Gravidez; Incontinência Urinária; Período Pós-Parto ABSTRACT Introduction:The urinary incontinence can affect up to 50% of women at some stage of their lives, particularly during pregnancy and postpartum. This study was designed in order to identify and assess the prevalence and risk factors for urinary incontinence during the third trimester of pregnancy and three months postpartum. Material and Methods:Observational and cross-sectional study. The population of the study was composed of 268 women who delivered and were admitted to the Centro Hospitalar Tâmega e Sousa in the years 2013 and 2014, and who agreed to participate in this study. Postpartum women were asked to fill out a questionnaire adapted from the International Consultation on Incontinence Questionnaire -Short Form, for urinary incontinence research in the third trimester of pregnancy. Three months after delivery, they were contacted by telephone and asked to answer the same questions about the urinary incontinence postpartum. Results: Of the 268 women interviewed, 31 were excluded from the study, taking into account the defined inclusion and exclusion criteria. In total (n = 237), 51.89% of women included in the study, reported the occurrence of urinary incontinence during pregnancy. The prevalence of urinary incontinence in pregnancy by parity (primiparous versus multiparous) was statistically significant (p = 0.006). At postpartum (n = 237), 28.69% of women with urinary incontinence had vaginal delivery and 5.91% of women underwent cesarean delivery (p = 0.001). In these group of women with postpartum urinary incontinence (n = 82), 31.69% have had urinary incontinence only in the postpartum and 68.31% of women have had symptoms during pregnancy (p < 0.001)....

A 39-year-old female had cor triatriatum (CT) detected as an incidental finding on transthoracic echocardiography performed to evaluate chest pain. By conventional two- and real time three-dimensional transesophageal echocardiography, the CT membrane had a communicating orifice connecting the accessory and main left atrial chambers that measured 1.3 × 0.8 cm. The resting mean transmembrane gradient was 2 mm Hg. The postexercise mean transmembrane gradient and pulmonary artery pressure were 6 and 40 mm Hg. Extrapolating from cutoff values for postexercise gradients and pulmonary pressures in patients with mitral stenosis, we advised deferring surgery and close clinical and echocardiographic follow up.