Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis

BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders. True positive results rely on detection of the fetal target being analysed. No amplification of the target may be interpreted either as a true negative result or a false negative result due to the absence or very low levels of cffDNA. The hypermethylated RASSF1A promoter has been reported as a universal fetal marker to confirm the presence of cffDNA. Using methylation-sensitive restriction enzymes hypomethylated maternal sequences are digested leaving hypermethylated fetal sequences detectable. Complete digestion of maternal sequences is required to eliminate false positive results.MethodscfDNA was extracted from maternal plasma (n = 90) and digested with methylation-sensitive and insensitive restriction enzymes. Analysis of RASSF1A, SRY and DYS14 was performed by real-time PCR.ResultsHypermethylated RASSF1A was amplified for 79 samples (88%) indicating the presence of cffDNA. SRY real time PCR results and fetal sex at delivery were 100% accurate. Eleven samples (12%) had no detectable hypermethylated RASSF1A and 10 of these (91%) had gestational ages less than 7 weeks 2 days. Six of these samples were male at delivery, five had inconclusive results for SRY analysis and one sample had no amplifiable SRY.ConclusionUse of this assay for the detection of hypermethylated RASSF1A as a universal fetal marker has the potential to improve the diagnostic reliability of NIPD for fetal sex determination and single gene disorders

Measurement-based analysis of the dynamic performance of microgrids using system identification techniques

The dynamic performance of microgrids is of crucial importance, due to the increased complexity introduced by the combined effect of inverter interfaced and rotating distributed generation. This paper presents a methodology for the investigation of the dynamic behavior of microgrids based on measurements using Prony analysis and state-space black-box modeling techniques. Both methods are compared and evaluated using real operating conditions data obtained by a laboratory microgrid system. The recorded responses and the calculated system eigenvalues are used to analyze the system dynamics and interactions among the distributed generation units. The proposed methodology can be applied to any real-world microgrid configuration, taking advantage of the future smart grid technologies and features

Dynamic performance of a low voltage microgrid with droop controlled distributed generation

Microgrids are small-scale highly controlled networks designed to supply electrical energy. From the operational point of view, microgrids are active distribution networks, facilitating the integration of distributed generation units. Major technical issues in this concept include system stability and protection coordination which are significantly influenced by the high penetration of inverter-interfaced distributed energy sources. These units often adopt the frequency-active power and voltage-reactive power droop control strategy to participate in the load sharing of an islanded microgrid. The scope of the paper is to investigate the dynamic performance of a low voltage laboratory-scale microgrid system, using experimental results and introduce the concept of Prony analysis for understanding the connected components. Several small disturbance test cases are conducted and the investigations focus on the influence of the droop controlled distributed generation sources

Laparoscopic Versus Robot-Assisted Versus Transanal Low Anterior Resection:3-Year Oncologic Results for a Population-Based Cohort in Experienced Centers

BACKGROUND: Laparoscopic, robot-assisted, and transanal total mesorectal excision are the minimally invasive techniques used most for rectal cancer surgery. Because data regarding oncologic results are lacking, this study aimed to compare these three techniques while taking the learning curve into account. METHODS: This retrospective population-based study cohort included all patients between 2015 and 2017 who underwent a low anterior resection at 11 dedicated centers that had completed the learning curve of the specific technique. The primary outcome was overall survival (OS) during a 3-year follow-up period. The secondary outcomes were 3-year disease-free survival (DFS) and 3-year local recurrence rate. Statistical analysis was performed using Cox-regression. RESULTS: The 617 patients enrolled in the study included 252 who underwent a laparoscopic resection, 205 who underwent a robot-assisted resection, and 160 who underwent a transanal low anterior resection. The oncologic outcomes were equal between the three techniques. The 3-year OS rate was 90% for laparoscopic resection, 90.4% for robot-assisted resection, and 87.6% for transanal low anterior resection. The 3-year DFS rate was 77.8% for laparoscopic resection, 75.8% for robot-assisted resection, and 78.8% for transanal low anterior resection. The 3-year local recurrence rate was in 6.1% for laparoscopic resection, 6.4% for robot-assisted resection, and 5.7% for transanal procedures. Cox-regression did not show a significant difference between the techniques while taking confounders into account. CONCLUSION: The oncologic results during the 3-year follow-up were good and comparable between laparoscopic, robot-assisted, and transanal total mesorectal technique at experienced centers. These techniques can be performed safely in experienced hands

Concept level evaluation of the full-scale deployment of fibre Bragg grating sensors for measuring forces in JET during plasma disruption events

This paper discusses concept level evaluation of the full-scale deployment of fibre bragg grating sensors for measuring forces in JET during plasma disruption events

Comparison of laparoscopic versus robot-assisted versus transanal total mesorectal excision surgery for rectal cancer:a retrospective propensity score-matched cohort study of short-term outcomes

BACKGROUND: Laparoscopic total mesorectal excision (TME) surgery for rectal cancer has important technical limitations. Robot-assisted and transanal TME (TaTME) may overcome these limitations, potentially leading to lower conversion rates and reduced morbidity. However, comparative data between the three approaches are lacking. The aim of this study was to compare short-term outcomes for laparoscopic TME, robot-assisted TME and TaTME in expert centres. METHODS: Patients undergoing rectal cancer surgery between 2015 and 2017 in expert centres for laparoscopic, robot-assisted or TaTME were included. Outcomes for TME surgery performed by the specialized technique in the expert centres were compared after propensity score matching. The primary outcome was conversion rate. Secondary outcomes were morbidity and pathological outcomes. RESULTS: A total of 1078 patients were included. In rectal cancer surgery in general, the overall rate of primary anastomosis was 39.4, 61.9 and 61.9 per cent in laparoscopic, robot-assisted and TaTME centres respectively (P < 0.001). For specialized techniques in expert centres excluding abdominoperineal resection (APR), the rate of primary anastomosis was 66.7 per cent in laparoscopic, 89.8 per cent in robot-assisted and 84.3 per cent in TaTME (P < 0.001). Conversion rates were 3.7 , 4.6 and 1.9 per cent in laparoscopic, robot-assisted and TaTME respectively (P = 0.134). The number of incomplete specimens, circumferential resection margin involvement rate and morbidity rates did not differ. CONCLUSION: In the minimally invasive treatment of rectal cancer more primary anastomoses are created in robotic and TaTME expert centres

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescents has been widely described as autistic or autistic-like. Epilepsy with a wide variety of seizure types can occur in these individuals, with onset between 6 months and 9 years. Various EEG abnormalities have been described. Muscle hypotonia is observed in almost all individuals, associated, in most of them, with joint hyperextensibility and drooling. Facial dysmorphic features are absent or subtle, and major malformations are rare. Feeding difficulties are reported in the newborn period

Risk factors and outcomes for postoperative delirium after major surgery in elderly patients

Background: Early identification of patients at risk for delirium is important, since adequate well timed interventions could prevent occurrence of delirium and related detrimental outcomes. The aim of this study is to evaluate prognostic factors for delirium, including factors describing frailty, in elderly patients undergoing major surgery. Methods: We included patients of 65 years and older, who underwent elective surgery from March 2013 to November 2014. Patients had surgery for Abdominal Aortic Aneurysm (AAA) or colorectal cancer. Delirium was scored prospectively using the Delirium Observation Screening Scale. Pre- and peri-operative predictors of delirium were analyzed using regression analysis. Outcomes after delirium included adverse events, length of hospital stay, discharge destination and mortality. Results: We included 232 patients. 51 (22%) underwent surgery for AAA and 181 (78%) for colorectal cancer. Postoperative delirium occurred in 35 patients (15%). Predictors of postoperative delirium included: delirium in medical history (Odds Ratio 12 [95% Confidence Interval 2.7-50]), advancing age (Odds Ratio 2.0 [95% Confidence Interval 1.1-3.8]) per 10 years, and ASA-score ≥3 (Odds Ratio 2.6 [95% Confidence Interval 1.1-5.9]). Occurrence of delirium was related to an increase in adverse events, length of hospital stay and mortality. Conclusion: Postoperative delirium is a frequent complication after major surgery in elderly patients and is related to an increase in adverse events, length of hospital stay, and mortality. A delirium in the medical history, advanced age, and ASA