The data continuum model of advancement

This method therefore combines the advantage of culture (that detects only live microorganisms) with those of molecular tests (rapidity) together with a very broad range of bacterial detection and identification. BACKGROUND Interpretation of genetic variants detected by sequencing of genomic DNA, which may cause splicing defects, regularly requires mRNA analysis. Usually, only bioinformatic testing is provided, because simple and non-invasive assay protocols are lacking. Furthermore, the detection of mis-splicing is often hampered by nonsense mediated mRNA decay (NMD). METHODS Starting from a case of Pompe disease with two potential splicing variants an assay for the analysis of splice defects in general was developed. We analyzed the transcripts from the gene of interest by standard methods after short-term culture of the patient's lymphocytes in the presence and absence of a NMD inhibitor. Variant and wild type transcript expression were quantified by allele specific PCR in the patient and both parents and the expression ratio with/without NMD inhibition was calculated for each transcript. RESULTS NMD detection in lymphocytes was optimized and evaluated by analyzing a naturally occurring NMD transcript. Several compounds inhibited NMD successfully, including potential therapeutic agents. Sample storage for up to 4 days at room temperature prior to lymphocyte isolation did not affect results. In a proof of concept we identified two candidate variants as severe splicing variants in a patient with Pompe disease, but the strategy can also be used to screen for any mis-spliced transcripts prone to NMD. CONCLUSIONS We developed a simple, non-invasive assay for the detection and characterization of potential splicing variants. This is essential, because early and near-term diagnosis and disease classification is required to facilitate therapy in many genetic diseases. INTRODUCTION Fetal alcohol spectrum disorders (FASD) is an important preventable public health concern, associated to a number of common pediatric problems such as incontinence. Little is known about the prevalence and presentation of incontinence in FASD, which hinders effective management. OBJECTIVE The aim of the present study was to investigate incontinence among people with FASD. STUDY DESIGN Parental questionnaires were sent to all eligible FASD participants. To enable comparing the observed prevalence with typically developing, non-prenatally alcohol-exposed individuals, two clinical control groups of patients undergoing immunotherapy for pollen allergy (GKA) and patients diagnosed with celiac disease (GKG) were selected. RESULTS A total of 119 participants were included in the study (FAS n = 24, partial fetal alcohol syndrome [pFAS] n = 19, alcohol-related neurodevelopmental disorder [ARND] n = 28, GKA n = 34, and GKG n = 14). Overall incontinence for FASD was estimated to be 24% (confidence interval [CI] ranges from 15 to 36); nocturnal enuresis (NE) was present in 10% (CI ranges from 4 to 19), daytime urinary incontinence (DUI) in 11% (CI ranges from 5 to 21), and fecal incontinence (FI) in 13% (CI ranges from 6 to 23). Symptoms of urgency were present for 52%, voiding postponement for 10%, and straining for 2%. These data are both consistent with higher prevalence in individuals with FASD and with similar prevalence (the CIs overlap). CONCLUSION Children and adolescents with FAS, pFAS, ARND, GKA, and GKG are affected by incontinence. Highest rates were observed in pFAS and ARND. Persons with FAS were mostly affected by DUI, those with pFAS by NE, and those with ARND by FI. We report the a case of a four-year old male child with a glans amputation secondary to circumcision, in whom a spongiocavernosal shunt, also called "winter shunt" was practiced. The aim of this report is to review the role of this technique in postoperative viability. PURPOSE To assess the responsiveness of forearm strength tests and to correlate the change to grip strength and a patient-reported outcome measure used for evaluation of distal radioulnar joint (DRUJ) implant arthroplasty. METHODS We performed a retrospective review of 18 patients treated with Herbert (n = 12) and Scheker (n = 6) DRUJ implants. Patients who had undergone the various measurements of arm and grip strength both before surgery and after a minimum follow-up of 1 year were included. Our primary aim was to compare the responsiveness of grip strength with our new methods for measuring forearm torque and lifting strength. The secondary aim was to correlate observed changes in strength measurements to change in a patient-reported outcome measure with use of the patient-reported wrist evaluation (PRWE). Measurements of grip strength, forearm torque, and lifting strength were performed with the Jamar dynamometer and the Kern and Baseline instruments. Preoperative values were compared with 1-year values. RESULTS Standardized response mean and effect size values were higher for forearm torque than for grip strength. Change in forearm torque and lifting strength had a moderate to strong correlation with change in PRWE. The correlation between grip strength and PRWE was weak. CONCLUSIONS Forearm torque measurements were better than grip strength in detecting changes after DRUJ arthroplasty. It also had a stronger correlation to patient-reported outcome, measured with the PRWE. CLINICAL RELEVANCE Forearm torque testing may add further information to the evaluation of DRUJ disorders and their treatments. These tests can provide quantifiable data on the patient's ability to perform various tasks requiring physical strength. BACKGROUND The purpose of this randomized controlled trial is to identify if a fascia iliaca block reduces postoperative pain and narcotic consumption and improves early functional outcomes in primary total hip arthroplasty (THA) performed through the mini-posterior approach. METHODS Patients were recruited from September 2017 to September 2019. Oleic activator Eligible patients received a primary THA using a mini-posterior approach with epidural anesthesia. Postoperatively, patients were randomized to receive a fascia iliaca compartment block or a placebo block. Numeric Rating Scale pain scores, narcotic consumption, and functional outcomes were recorded at regular intervals postoperatively. RESULTS Upon study completion, 122 patients were available for final analysis. There was no difference in the average pain scores at any time interval between the placebo and block groups during the first 24 hours (P = .21-.99). There was no difference in the morphine equivalents consumed between the groups during any time interval postoperatively (P = .