Emerging data on diagnosis and management of uterine isthmoceles: a rapid review.

PURPOSE OF REVIEW: With a rising number of cesarean sections, the prevalence of uterine isthmoceles is increasing. We performed a rapid review to assess the most recent data on the diagnosis and management of uterine isthmoceles over the past 18 months to identify current trends and directions for continued research. RECENT FINDINGS: A comprehensive search was conducted in PubMed (NLM), Embase (Ovid), CINAHL (EBSCOhost) to find English written articles discussing the diagnosis or management of uterine isthmoceles published in the previous 18 months. Data extraction was performed on one hundred articles that met inclusion criteria. SUMMARY: This rapid review highlights agreement regarding diagnostic methods, symptoms, and recommended treatment paths for patients with symptomatic uterine niches. However, the diversity in definitions hampers the capacity to formulate detailed conclusions regarding the features of uterine niches and their impact on women's health.

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

INTRODUCTION: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations. METHODS: A genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array imputation. Replication was assessed in two ADAD cohorts, one sporadic early-onset AD study and four late-onset AD studies. RESULTS: 13 variants had p<1×10-7 or p<1×10-5 with replication including three independent loci with candidate associations with clusterin including near CLU. Other suggestive associations were identified in or near HS3ST1, HSPG2, ACE, LRP1B, TSPAN10, and TSPAN14. DISCUSSION: Variants with suggestive associations with AAO were associated with biological processes including clusterin, heparin sulfate, and amyloid processing. The detection of these effects in the presence of a strong mutation for ADAD reinforces their potentially impactful role.

Abdominal Wall Thickness at Palmer's Point and Distance to Adjacent Structures across the Body Mass Index Spectrum.

STUDY OBJECTIVE: Studies delineating left upper quadrant (LUQ) anatomy across a range of body mass indices are lacking. We aimed primarily to compare, between nonobese and obese women, abdominal wall thickness and the distance from the LUQ to key structures. In addition, we aimed to characterize LUQ anatomy in underweight women. DESIGN: A retrospective cohort study. SETTING: A tertiary academic medical institution. PATIENTS: Sixty women (30 nonobese, 30 obese) aged 18 years and older who underwent abdominal imaging from October 1, 2018, to December 31, 2018. INTERVENTIONS: Computed tomography imaging of the chest, abdomen, and pelvis. MEASUREMENTS AND MAIN RESULTS: Abdominal wall thickness at the LUQ was significantly greater in obese (4.3 ± 1.7 cm) than nonobese patients (2.4 ± 1.7 cm) (p <.001), as were distances to all key structures (aorta, vena cava, spleen, stomach, pancreas, liver, left kidney, and pelvis) (p ≤.02). On average, all structures, with the exception of stomach and liver, were >10 cm (the length of a typical insufflation needle) away from the LUQ insertion point in obese women. In underweight women, the aorta, spleen, stomach, pancreas, and liver were all within 10 cm of the LUQ insertion point. Within the obese and nonobese group, abdominal wall thickness at the LUQ was significantly greater than at the umbilicus (p <.001). Body mass index was more strongly correlated with abdominal wall thickness at the LUQ (r = 0.84; p <.001) than at the umbilicus (r = 0.69; p <.001) (p = .007 for comparison). CONCLUSION: This study highlights special anatomic considerations for LUQ access in obese and underweight patients. In obese women, abdominal wall thickness may be greater at this site than at the umbilicus and the liver and stomach remain within reach of an insufflation needle. The increased working distance from the LUQ to the pelvis in obese patients may necessitate specialized instruments if this site is used during surgery. In underweight women, the aorta, in addition to many other structures, is within reach of commonly used entry devices.

Ultrasound Visceral Slide Assessment to Evaluate for Intra-abdominal Adhesions in Patients Undergoing Abdominal Surgery - A Systematic Review and Meta-analysis.

OBJECTIVE: Abdominal entry at the time of laparoscopy is a critical step with a risk of injury to underlying viscera owing to bowel adhesions. Ultrasound can be used as a preoperative tool to assess the slide of viscera underneath the abdominal wall to detect adhesion-free areas. The objective of this systematic review and meta-analysis was to determine the diagnostic accuracy of preoperative visceral slide assessment with ultrasound to detect intra-abdominal adhesions, compared with the gold standard of intraoperative findings. DATA SOURCES: Using Cochrane, Medline PubMed, Embase, and Google Scholar electronic databases, 3737 articles were screened in April 2020 using a query that included variations of "adhesions" and "ultrasound." Reference lists of relevant articles were searched for further articles. METHODS OF STUDY SELECTION: Prospective and cross-sectional studies in English that included patients at risk for intra-abdominal adhesions who underwent preoperative ultrasound visceral slide assessment and subsequent intraoperative assessment of adhesions were selected. Two reviewers independently selected 25 articles, extracted data, and assessed bias using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. TABULATION, INTEGRATION, AND RESULTS: Twenty-five articles reported on 1609 patients and 5812 assessed abdominal areas, with considerable heterogeneity of described abdominal areas and degrees of adhesions. Meta-analysis was performed for 21 studies. The periumbilical area was assessed specifically for bowel adhesions in 890 patients in 12 studies, with a 12.0% bowel adhesion rate. Ultrasound assessment for periumbilical bowel adhesions had a combined sensitivity of 95.9% (95% confidence interval, 82.7%-99.1%), specificity of 93.1% (85.1%-96.9%), positive predictive value of 60.4% (44.2%-74.7%), and negative predictive value of 99.2% (97.9%-99.7%) with low heterogeneity (I2 = 16%). CONCLUSION: Visceral slide assessment with ultrasound has a high negative predictive value for the absence of periumbilical bowel adhesions in patients at risk for adhesions and can function as a useful tool to detect adhesion-free areas to allow for safe laparoscopic entry.

Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.

Advances in genomic knowledge and technology have increased the use of comprehensive clinical sequencing tests. Genome sequencing has established utility for diagnosing patients with rare, undiagnosed diseases as well as interest in an elective context, without a clinical indication for testing. The Smith Family Clinic for Genomic Medicine, LLC in Huntsville, AL is a private practice genomic medicine clinic caring for both diagnostic (79%) and elective (21%) patients. Diagnostic and elective patients are seen on a clinical basis and receive standard care. Genome sequencing is provided on a self-pay basis, with assistance available for diagnostic patients who have financial need. Here, we describe demographics and motivations of the distinct patient populations and our experiences engaging patients in online education. Diagnostic patients were motivated by the possibility of receiving an explanation for symptoms (96%) while elective patients were motivated by the chance to learn about future disease risk (57%). Elective patients were less likely to engage with online education, with only 28% reading all assigned topics compared to 54% of diagnostic patients. Understanding the needs, interests, and barriers unique to diagnostic and elective patients is critical to inform individualized and scalable best practices in patient education and engagement.