Validation of Real-time Transthoracic 3D echocardiography in Children with Congenital Heart Disease

Aims: Assessment of feasibility, accuracy and applicability in clinical practice of real-time three-dimensional echocardiography (RT-3DE) in children with congenital heart defects. Methods and results: From September 2004 to June 2005, 100 consecutive children (57 infants, 43 children > 1 year of age), who were scheduled for corrective intracardiac surgery, were enrolled in this study. RT-3DE was performed with Philips Sonos 7500 echo-system and off-line analysis with TomTec Echoview© software. Quantitative and qualitative assessments of the region of interest were performed on the 3D reconstruction, comparing these results with the anatomic findings and measurements performed during intracardiac surgery. Acquisition of RT-3DE datasets was feasible in 92 of the 100 (92%) patients and acquisition time was 6 ± 3 minutes. The overall quantitative analyses showed an excellent correlation (r < 0.90) between RT-3De and surgery. Also the qualitative analyses were accurate compared with surgical findings, in all patients in which RT-3DE was feasible. Conclusion: This study shows that RT-3DE can be used in the clinical practice for the assessment of intracardiac anatomy in children with congenital heart disease. The information derived from the 3D reconstructions can be taken into consideration in the preoperative planning and management regarding interventional or surgical therapy

Screening, diagnosis and monitoring of sarcopenia:When to use which tool?

Background & aims: Sarcopenia is a muscle disorder associated with loss of muscle mass, strength and function. Early screening, diagnosis and treatment may improve outcome in different disease conditions. A wide variety of tools for estimation of muscle mass is available and each tool has specific technical requirements. However, different investigational settings and lack of homogeneity of populations influence the definition of gold standards, proving it difficult to systematically adopt these tools. Recently, the European Working Group on Sarcopenia in Older People (EWGSOP) published a revised recommendation (EWGSOP-2) and algorithm for using tools for screening and diagnosing sarcopenia. However, agreement of the EWGSOP2 criteria with other classifications is poor and although an overview of available tools is valuable, for the purpose of clinical decision-making the reverse is useful; a given scenario asks for the most suitable tools. Results: Tools were identified for screening, diagnostics and longitudinal monitoring of muscle mass. For each of these clinical scenarios the most appropriate tools were listed and for each technique their usability is specified based on sensitivity and specificity. Based on this information a specific recommendation is made for each clinical scenario. Conclusion: This narrative review provides an overview of currently available tools and future developments for different clinical scenarios such as screening, diagnosis and longitudinal monitoring of alterations in muscle status. It supports clinical decision-making in choosing the right tools for muscle mass quantification depending on the need within a given clinical scenario as well as the local availability and expertise. (C) 2022 The Author(s). Published by Elsevier Ltd on behalf of European Society for Clinical Nutrition and Metabolism

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Endovascular aneurysm repair is superior to open surgery for ruptured abdominal aortic aneurysms in EVAR-suitable patients

ObjectiveEfficacy results of endovascular repair (rEVAR) for ruptured abdominal aortic aneurysm (rAAA) compared with open surgery are based on several observational studies containing selection bias. The present study compared rEVAR with open surgery in EVAR-suitable patients with an rAAA who all underwent the same preoperative imaging protocol.MethodsOur policy is to perform a computed tomography angiography on all patients with a suspected rAAA. rEVAR was performed when the rEVAR-vascular surgeon was on call and the patient was suitable for EVAR. Afterwards, two experienced independent blinded experts assessed all computed tomography angiography (CTA) scans on EVAR-suitability. Only EVAR-suitable patients were included in the main analyses. Outcome parameters included mortality (intraoperative, 30-day, and 6-month), complications, reinterventions, and length of hospital stay.ResultsFrom April 2002 until March 2008, 132 consecutive patients with suspected rAAAs were presented. Preoperative CTA confirmed rAAA in 104 patients, of whom 25 underwent rEVAR, and 79 underwent open surgery. In retrospect, the 25 rEVAR patients and 33 patients in the open group were judged EVAR-suitable by the experts. At baseline, there was an equal distribution of physiologic and anatomic characteristics as well as comorbidity. In EVAR-suitable patients, the intraoperative, 30-day, and 6-month mortality was 4.0% (1 of 25), 20.0% (5 of 25), and 28.0% (7 of 25) after rEVAR compared with 6.1% (2 of 33; P >.99), 45.5% (15 of 33; P = .04), and 54.5% (18 of 33; P = .04) after open surgery, respectively. Median length of hospital stay was 9.5 days (interquartile range, 5.0-20.5) after rEVAR and 17.0 days (interquartile range, 9.5-28.0) after open surgery (P = .03).ConclusionsIn EVAR-suitable patients, an absolute perioperative mortality reduction of 25.5% of rEVAR over open surgery was found, which was still present at 6 months of follow-up. These data suggest that rEVAR is a superior treatment option for EVAR-suitable patients with an rAAA compared with an open surgery

Long-term results of distal oblique bundle reinforcement for treatment of chronic bidirectional instability of the distal radioulnar joint

Distal oblique bundle (DOB) reinforcement for treatment of post-traumatic bidirectional instability of the distal radioulnar joint (DRUJ) has previously been reported. The objective of the current study was to assess the incidence of symptomatic graft failure and the need for secondary wrist procedures at a longer follow-up in an updated patient cohort of 27 patients with 28 DOB reinforcement procedures. Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) and patient-rated wrist/hand evaluation (PRWHE) outcome measures were also evaluated. At median 82 months follow-up, pre- to postoperative QuickDASH score improved from a mean of 62 (SD 14) to 31 (SD 22) (p < 0.01) and PRWHE score from a mean of 67 (SD 17) to 34 (SD 23) (p < 0.01). Symptomatic graft failure with resultant painful DRUJ instability occurred in four out of 28 procedures, which was better than the published results of alternative surgical options for DRUJ instability. DOB reinforcement presents a relatively safe, effective and durable method for treatment of post-traumatic DRUJ instability.Level of evidence: III

Long-term results of distal oblique bundle reinforcement for treatment of chronic bidirectional instability of the distal radioulnar joint

Distal oblique bundle (DOB) reinforcement for treatment of post-traumatic bidirectional instability of the distal radioulnar joint (DRUJ) has previously been reported. The objective of the current study was to assess the incidence of symptomatic graft failure and the need for secondary wrist procedures at a longer follow-up in an updated patient cohort of 27 patients with 28 DOB reinforcement procedures. Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) and patient-rated wrist/hand evaluation (PRWHE) outcome measures were also evaluated. At median 82 months follow-up, pre- to postoperative QuickDASH score improved from a mean of 62 (SD 14) to 31 (SD 22) (p < 0.01) and PRWHE score from a mean of 67 (SD 17) to 34 (SD 23) (p < 0.01). Symptomatic graft failure with resultant painful DRUJ instability occurred in four out of 28 procedures, which was better than the published results of alternative surgical options for DRUJ instability. DOB reinforcement presents a relatively safe, effective and durable method for treatment of post-traumatic DRUJ instability.Level of evidence: III

The Diagnostic Value of Ultrasound of the Rectus Femoris for the diagnosis of Sarcopenia in adults: A systematic review

BACKGROUND & AIM: Sarcopenia is defined as a loss of muscle mass and function, which can be caused by normal ageing or factors such as physical inactivity. Severe health consequences caused by sarcopenia highlight the need for early identification. Computed Tomography (CT) imaging, often mentioned as the gold standard due to its accuracy, is costly and not routinely performed in daily clinical care. Ultrasound of the rectus femoris, however, is low in costs and easily accessible. The aim is to present the current and most recent literature regarding the diagnostic value of ultrasound measurements of the rectus femoris for the diagnosis of sarcopenia in adults. METHODS: The databases PubMed and Web of Science were used to search for studies comparing ultrasound of the rectus femoris with a reference test to diagnose sarcopenia in adults. The quality of the final eligible studies was assessed using the Quality Assessment of Diagnostic Accuracy Studies, version 2, tool (QUADAS-2). RESULTS: Six studies were included in this systematic review. The muscle thickness and cross-sectional area of the rectus femoris were assessed and compared with the reference tests CT, Dual-Energy X-ray Absorptiometry (DXA), and Bioelectrical Impedance Analysis (BIA). Half of the studies had a low risk of bias on all QUADAS-2 domains. Three studies reported statistical significant outcomes and diagnostic values ranging from 60 to 81% sensitivity and 51 to 94% specificity. CONCLUSIONS: Ultrasound of the rectus femoris muscle to diagnose sarcopenia has been shown to be a promising method in multiple clinical populations. However, there were some limitations such as a high methodological heterogeneity. Future research should develop standardized protocols and determine clear cut-off values to allow for a better implementation of ultrasound in clinical practice