Gestación gemelar con feto muerto intraútero en el segundo trimestre

Nowadays, twin gestation is increased due to advances in assisted reproduction. Unquestionably, these pregnancies have an increased risk of foetal and maternal disorders. Single foetal death has a different incidence depending on gestational age; in the first trimester between 10-70%, in the second and third trimester it is a rare event, 0.5-7%.     

Significance of tilt table testing in patients with suspected arrhythmic syncope and negative electrophysiologic study

BACKGROUND: The diagnostic significance of a tilt table test (TTT) in patients with a suspected arrhythmic etiology for syncope and negative electrophysiologic study (EPS) has not been previously assessed comparing the TTT results with the findings of prolonged monitoring using an implantable loop recorder (ILR). We sought to assess the diagnostic yielding of TTT in patients with suspected arrhythmic syncope and negative EPS. METHODS AND RESULTS: In 81 patients with suspected arrhythmic etiology for syncope and negative EPS, TTT was performed and an ILR implanted regardless the results of TTT. TTT was positive in 38 patients. During follow-up, syncope or presyncope recurred in 32 patients (39.5%). No differences were found in recurrence rates in patients with positive and negative TTT (31.5% vs 46.5%, P = ns). According to rhythm registered during ILR activation, mechanisms of syncopal events were classified as: arrhythmic (atrioventricular [AV] block and ventricular tachycardia; n = 18), neurally mediated (sinus bradycardia and sinus pause; n = 9), and indeterminate (normal sinus rhythm; n = 5). There was no statistical association between the results of TTT and the mechanism of syncope. CONCLUSIONS: In patients with a suspected arrhythmic etiology for syncope and a negative EPS, TTT is of little value to predict the mechanism of syncope and the ILR implantation seems to be a useful and safe diagnostic strategy.     

Cysteine protease mcII-Pa executes programmed cell death during plant embryogenesis

Programmed cell death (PCD) is indispensable for eukaryotic development. In animals, PCD is executed by the caspase family of cysteine proteases. Plants do not have close homologues of caspases but possess a phylogenetically distant family of cysteine proteases named metacaspases. The cellular function of metacaspases in PCD is unknown. Here we show that during plant embryogenesis, metacaspase mcII-Pa translocates from the cytoplasm to nuclei in terminally differentiated cells that are destined for elimination, where it colocalizes with the nuclear pore complex and chromatin, causing nuclear envelope disassembly and DNA fragmentation. The cell-death function of mcII-Pa relies on its cysteine-dependent arginine-specific proteolytic activity. Accordingly, mutation of catalytic cysteine abrogates the proteolytic activity of mcII-Pa and blocks nuclear degradation. These results establish metacaspase as an executioner of PCD during embryo patterning and provide a functional link between PCD and embryogenesis in plants. Although mcII-Pa and metazoan caspases have different substrate specificity, they serve a common function during development, demonstrating the evolutionary parallelism of PCD pathways in plants and animals.     

Gender differences in clinical features and outcomes of a Portuguese systemic sclerosis cohort

Clinical Rheumatology - Evidence for the role of sex in the clinical manifestations of systemic sclerosis (SSc) patients is emerging. Some multicenter cohorts have shown that male SSc patients have...     

Prevalence of pudendal neuropathy in fecal incontinence

PURPOSE: A prospective study was made of the prevalence and associations of pudendal neuropathy in 96 patients with fecal incontinence (72 females and 24 males). METHODS: Clinical exploration, perineal level measurement, anorectal manometry, and electrophysiologic evaluations (pudendal nerve terminal motor latency (PNTML) and external sphincter fiber density (FD)) were performed. RESULTS: Pudendal neuropathy (defined as PNTML>2.2 ms or FD>1.65) was found in 67 patients (69.8 percent) and was more common in females (75 percent) than in males (50 percent;P = 0.05). Pudendal neuropathy was also more frequent in patients with pathologic perineal descent (85 percent vs. 55 percent;P <0.01) or exhibiting risk factors such as difficult labor or excessive defecatory straining (P <0.01). Perineal level at straining correlated inversely with both PNTML and FD (P <0.01). Manometric findings suggested greater external anal sphincter damage in patients with pudendal neuropathy than in those suffering fecal incontinence but no neuropathy (P <0.05). Pressure caused by the striated anal sphincter was also inversely correlated to PNTML. Pudendal neuropathy was encountered in 37 of 63 (58.7 percent) patients with sphincter injury vs.in 31 of 33 (93.9 percent) patients with idiopathic fecal incontinence (P < 0.01). CONCLUSIONS: Pudendal neuropathy is an etiologic or associated factor often present in patients with fecal incontinence. In this sense, clinical, perineometric, and manometric findings correlate with pudendal neuropathy, though such explorations do not suffice to detect it.Read at the meeting of The American Society of Colon and Rectal Surgeons, Orlando, Florida, May 8 to 13, 1994.     

Identification of somatic gene mutations in penile squamous cell carcinoma

There is a lack of studies on somatic gene mutations and cell signaling driving penile carcinogenesis. Our objective was to analyze somatic mutations in genes downstream of EGFR in penile squamous cell carcinomas, especially the mTOR and RAS/MAPK pathways. We retrospectively analyzed somatic mutations in 10 in situ and 65 invasive penile squamous cell carcinomas by using Sequenom's Mass Spectrometry iPlex Technology and Oncocarta v1.0 Panel. The DNA was extracted from FFPE blocks and we identified somatic missense mutations in three in situ tumors and in 19 invasive tumors, mostly in PIK3CA, KRAS, HRAS, NRAS, and PDGFA genes. Somatic mutations in the PIK3CA gene or RAS family genes were neither associated with tumor grade, stage or outcome, and were equally often identified in hrHPV positive and in hrHPV negative tumors that showed no p53 expression. Mutations in PIK3CA, KRAS, and HRAS are frequent in penile squamous cell carcinoma and likely play a role in the development of p53‐negative tumors. Although the presence of these mutations does not seem to correlate with tumoral behavior or outcome, they could be biomarkers of treatment failure with anti‐EGFR mAb in patients with penile squamous cell carcinoma. © 2015 Wiley Periodicals, Inc.     

Discapacidad intelectual en niños y adolescentes: influencia en la familia y la salud familiar. Revisión sistemática

Objective

To examine the influence of a child or adolescent with intellectual disabilities on the family unit.