Albertsenslot1099

Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. Sardomozide in vivo The formation and maintenance of cilia and flagella require bidirectional transit of proteins along the axonemal microtubules, a process called intraflagellar transport (IFT). In humans, IFT defects contribute to a large group of systemic diseases, called ciliopathies, which often display overlapping phenotypes. By performing exome sequencing of a cohort of 167 non-syndromic infertile men displaying multiple morphological abnormalities of the sperm flagellum (MMAF) we identified two unrelated patients carrying a homozygous missense variant adjacent to a splice donor consensus site of IFT74 (c.256G > A;p.Gly86Ser). IFT74 encodes for a core component of the IFT machinery that is essential for the anterograde transport of tubulin. We demonstrate that this missense variant affects IFT74 mRNA splicing and induces the production of at least two distinct mutant proteins with abnormal subcellular localization along the sperm flagellum. Importantly, while IFT74 deficiency was previously implicated in two cases of Bardet-Biedl syndrome, a pleiotropic ciliopathy with variable expressivity, our data indicate that this missense mutation only results in primary male infertility due to MMAF, with no other clinical features. Taken together, our data indicate that the nature of the mutation adds a level of complexity to the clinical manifestations of ciliary dysfunction, thus contributing to the expanding phenotypical spectrum of ciliopathies.

Histologically incomplete resection of large colorectal polyps is frequently encountered; however, the long-term outcomes or surveillance timing is not well known. We evaluated the incidence rate and time of recurrence of these cases during a long-term follow-up.

We performed a retrospective analysis of patients who underwent endoscopic resection for large (≥10mm in size) non-pedunculated colorectal polyps at a tertiary academic hospital. Patients who had positive or indeterminate lateral margin in the histology and underwent completed surveillance colonoscopy first at 3-12months and finally at ≥2years after initial resection were included.

Of 169 polyps (148 patients), 37 (21.9%) and 132 (78.1%) polyps had positive and indeterminate lateral margins, respectively. The median time intervals of the first and last surveillance from the initial resection were 6 (3-12) and 48 (24-114) months, respectively. The recurrence rate was 9.5% (16/169) during follow-up, and the mean time to recurrence was 31.9months.findings of suspected submucosal cancer may be considered as complete resection, and these patients may undergo first surveillance colonoscopy after 1-2 years.

Infants with newborn congenital anomalies are increasingly undergoing minimally invasive surgical (MIS) repair. Currently available data on outcomes are limited. This study provides national estimates for length of stay and 30-day complications following MIS for congenital anomalies.

Using the ACS-NSQIP Pediatric (2013-2018), a retrospective analysis of MIS for congenital anomalies was performed. MIS repairs for the following diagnoses were included pyloric stenosis (PS), congenital lung lesion (LL), mediastinal mass (MM), congenital malrotation (CM), anorectal malformation (ARM), Hirschsprung's disease (HD), congenital diaphragmatic hernia (CDH), tracheoesophageal fistula (TEF), biliary atresia/choledochal cyst (HB), and intestinal atresia (IA). Postoperative LOS (pLOS) and complication rates were examined using multivariable analysis for risk factors after categorizing surgeries by complexity of care related to congenital anomaly Simple (PS), Complex Group 1 (LL, MM, CM, and ARM), and Complex Group 2 (Hstoperative LOS and 30-day complications following MIS for congenital anomalies.

Few studies have reported the long-term results of minimally invasive Heller myotomy (HM) for the treatment of achalasia. Herein, we detail our 17-year experience with HM for the treatment of achalasia from a tertiary referral center.

All patients undergoing elective HM at our institution from 2000 to 2017 were identified within a prospective institutional database. These patients were sent mail and electronic surveys to capture their symptoms of dysphagia, chest pain, and regurgitation pre- and postoperatively and were asked to evaluate their postoperative gastrointestinal quality of life. Responses from adult patients who underwent minimally invasive Heller myotomy with partial posterior (i.e., Toupet) fundoplication (HM-TF) were analyzed.

294 patients were eligible for study inclusion; 139 (47%) completed our survey. Median time from HM-TF to survey response was 5.6years. A majority of patients reported improvement in their dysphagia (91%), chest pain (70%), and regurgitation (87%) symptoms. Patients who underwent HM-TF more than 5years ago were most likely to report heartburn symptoms. One (1%) patient went on to require esophagectomy for ongoing dysphagia and one (1%) patient required revisional fundoplication for their heartburn symptoms.

Minimally invasive Heller myotomy and posterior partial fundoplication is a durable treatment for achalasia over the long term. Additional prospective and multi-institutional studies are needed to validate our results.

Minimally invasive Heller myotomy and posterior partial fundoplication is a durable treatment for achalasia over the long term. Additional prospective and multi-institutional studies are needed to validate our results.

Benign esophageal strictures are a frequent complication after esophageal surgery or extensive endoscopic submucosal dissection. Endoscopic dilation is the preferred treatment in clinical practice. However, the allocation of time for each dilation is unclear. The aim of this study was to evaluate the appropriate duration of endoscopic dilation for benign esophageal strictures after esophageal surgery or endoscopic submucosal dissection.

Patients with benign esophageal strictures after esophageal surgery or endoscopic submucosal dissection between July 2010 and July 2018 were retrospectively included in this study. According to the dilation time (1, 3, 5min), patients were divided into three groups. The clinical effects and adverse events were compared among the three groups.

Altogether, 57 patients, including 21 in the 1-min group, 18 in the 3-min group and 18 in the 5-min group, were included. All patients underwent endoscopic treatment successfully. The stricture recurrence rate was 76.19% in the 1-min group, 55.