Novel electrocardiographic criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy

Aims: In order to improve the electrocardiographic (ECG) diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC), we evaluated novel quantitative parameters of the QRS complex and the value of bipolar chest leads (CF leads) computed from the standard 12 leads. Methods and results: We analysed digital 12-lead ECGs in 44 patients with ARVC, 276 healthy subjects including 44 age and sex-matched with the patients and 36 genotyped members of ARVC families. The length and area of the terminal S wave in V1 to V3 were measured automatically using a common for all 12 leads QRS end. T wave negativity was assessed in V1 to V6 and in the bipolar CF leads computed from the standard 12 leads. The length and area of the terminal S wave were significantly shorter, whereas the S wave duration was significantly longer in ARVC patients compared with matched controls. Among members of ARVC families, those with mutations (n = 15) had shorter QRS length in V2 and V3 and smaller QRS area in lead V2 compared with those without mutations (n = 20). In ARVC patients, the CF leads were diagnostically superior to the standard unipolar precordial leads. Terminal S wave duration in V1 >48 ms or major T wave negativity in CF leads separated ARVC patients from matched controls with 90% sensitivity and 86% specificity. Conclusion: The terminal S wave length and area in the right precordial leads are diagnostically useful and suitable for automatic analysis in ARVC. The CF leads are diagnostically superior to the unipolar precordial leads

A toolkit for prosthetists and orthotists to facilitate progress in professional communication over the next 50 years

Background: In this celebratory issue of Prosthetics and Orthotics International, we review professional communication skills in the field of prosthetics and orthotics. Objective: We aim to reflect on communication skills in the past 50 years, to discuss developments in the coming 50 years, and to create a toolkit and research agenda to facilitate progress in professional communication in the next 50 years. Results: Despite being a key area in prosthetics and orthotics training programmes, we found no studies on professional communication with an experimental design published in Prosthetics and Orthotics International. As an alternative, we provide clinical reflections on the changes in professional communication in the past 50 years, and we discuss questionnaire-based and qualitative studies that provide evidence for the importance of communication in pedorthic footwear provision. In the coming 50 years, professional communication in the field of prosthetics and orthotics may be impacted by aging populations, global mobility, information technology, technological advances and emphasis on prevention. We discuss each of these topics. To facilitate progress in professional communication, we have created a toolkit with resources for prosthetics and orthotics professionals, prosthetics and orthotics students and other interested professionals. Conclusions: We hope this toolkit will inspire others to use, extend and implement it in their daily practice. As a research agenda, we strongly recommend undertaking research on interventions to improve professional communication and to study its effect on clinically meaningful outcomes

The genetics of situs inversus without primary ciliary dyskinesia

Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of left-handedness (five out of nine), which suggested possible developmental mechanisms linking brain and body laterality. The six SI subjects with PCD all had likely recessive mutations in genes already known to cause PCD. Two non-PCD SI cases also had recessive mutations in known PCD genes, suggesting reduced penetrance for PCD in some SI cases. One non-PCD SI case had recessive mutations in PKD1L1, and another in CFAP52 (also known as WDR16). Both of these genes have previously been linked to SI without PCD. However, five of the nine non-PCD SI cases, including three of the left-handers in this dataset, had no obvious monogenic basis for their condition. Environmental influences, or possible random effects in early development, must be considered

Prevalence and factors associated with musculoskeletal complaints and disability in individuals with brachial plexus injury:a cross-sectional study

Purpose (1) To determine the prevalence of musculoskeletal complaints (MSCs) in the non-affected bodily structures in individuals with brachial plexus injury (BPI) and (2) to analyse factors associated with MSCs and disability. Methods Survey among individuals with BPI and a control group. Multivariable logistic and linear regression analyses were used to identify factors associated with MSCs or disability. Results Forty-nine percent of individuals (34/70) with BPI experienced MSC, which was not significantly different from controls (35%, n = 40/113). Complaints were most often located in high back (OR = 3.6) or non-affected limb (OR = 2.2) or neck (OR = 2.1). Greater disability was associated with the presence of MSC in individuals with BPI (OR = 1.1, 95% confidence interval (95% CI) = 1.0; 1.1). Those with no or a low level of education (B = -10.2, 95% CI = -19.6; -1.4), a history of nerve surgery (B = 11.1, 95% CI = -0.2; 20.9), and moderately affected active range of motion (AROM) of the affected limb (B = 20.7, 95% CI = 8.8; 31.0) experienced most disability. Individuals with severely affected AROM showed a wide range of experienced disability. Conclusions Clinicians should be aware that almost half of individuals with BPI have MSCs in the non-affected bodily structures, which was associated with increased disability.</p

Effects of Longitudinal Bending Stiffness of forefoot rocker profile shoes on ankle kinematics and kinetics

INTRODUCTION: Rocker profile shoes with a proximally placed apex are currently one of the most prescribed shoe modifications for treatment and prevention of lower leg deficits. Three geometrical rocker design parameters apex position (AP), apex angle (AA) and rocker radius (RR) influence both plantar pressure redistribution and kinetic and kinematic alterations of the lower leg. In addition, longitudinal bending stiffness (LBS) of the outsole influences these parameters as well. This study aims to investigate the effects of the LBS in combination with different forefoot radii of rocker shoes on kinematics and kinetics of the lower limb. METHODS: 10 participants walked in standard shoes and six experimental shoe conditions with high and low LBS and three different forefoot rocker radii with the same (proximal) AP and AA. Lower extremity kinematics and kinetics were collected while walking on an instrumented treadmill at preferred walking speed and analysed with a repeated measures ANOVA and Statistical Parametric Mapping (SPM) (α = .05; post hoc α = .05/6). RESULTS: SPM analyses revealed no significant differences for LBS and interaction LBS*RR for most research variables in terminal stance (ankle angle, ankle moment, ankle power, foot-to-horizontal angle, shank-to-vertical angle, external ankle moment, ground reaction force angle). A significant LBS effect was found for anterior-posterior position of the centre of pressure during pre-swing and peak ankle dorsiflexion angle. No relevant significant differences were found in spatio-temporal parameters and total work at the ankle between low and high LBS. CONCLUSION: This study showed that longitudinal bending stiffness does not affect the biomechanical working mechanism of rocker profile shoes as long as toe plantarflexion is restricted. Providing that the forefoot rocker radius supports at least a normal foot-to-horizontal angle at toe-off, there is no reason to increase sole stiffness to change ankle kinematics and kinetics

A 12-month follow-up study of treating overweight schizophrenic patients with aripiprazole

Objective: To investigate the feasibility of switching overweight schizophrenic patients to aripiprazole and to assess the impact of 12 months of aripiprazole treatment on weight in routine practice. Method: This was a non-controlled cohort study in overweight schizophrenic patients. Data were collected before treatment with aripiprazole was started and at 12-month follow-up. Results: A total of 53 patients were included; of these 55% continued using aripiprazole for 12 months. Aripiprazole treatment for 12 months (P = 0.027) and stopping clozapine or olanzapine treatment (P = 0.038) predicted weight loss (>= 3 kg). Patients receiving aripiprazole monotherapy (n = 16, mean -3.0 kg) had similar weight loss than patients receiving aripiprazole in addition to another antipsychotic drug (n = 13, mean -4.4 kg). Conclusion: In routine practice once aripiprazole treatment was started, more than half of the patients remained on aripiprazole and most of them lost weight. Adding aripiprazole to clozapine gave similar weight loss as monotherapy with aripiprazole

Musculoskeletal complaints in individuals with finger or partial hand amputations in the Netherlands:A cross-sectional study

PURPOSE: To compare the prevalence of musculoskeletal complaints (MSCs) in individuals with finger or partial hand amputations (FPHAs) with a control group and to explore the effect and predictors of MSCs in individuals with FPHAs. METHOD: A questionnaire-based cross-sectional study was conducted. The primary outcome measures were: prevalence of MSCs, health status, pain-related disability, physical work demands, work productivity, and hand function. RESULTS: The response rate was 61%. A comparable proportion of individuals with FPHAs (n = 99) and controls (n = 102) reported MSCs in the preceding 4 weeks (33% vs. 28%, respectively) or in the preceding year (37% vs. 33%, respectively). Individuals with FPHAs with MSCs experienced more pain than controls with MSCs. Regular occurrence of stump sensations and self-reported limited range of motion (ROM) of the wrist of the affected limb were predictors for MSCs in individuals with FPHAs. CONCLUSIONS: The prevalence of MSCs was comparable in individuals with FPHAs and controls. However, clinicians should pay special attention to the risk of developing MSCs in patients with stump sensations and limited ROM of the wrist of the affected limb. Future research should focus on the role of wrist movements and compensatory movements in the development of MSCs in individuals with FPHAs

Uphill and downhill walking in unilateral lower limb amputees

Objective: To study adjustment strategies in unilateral amputees in uphill and downhill walking. Design: observational cohort study. Subjects: Seven transfemoral, 12 transtibial unilateral amputees and 10 able-bodied subjects. Methods: In a motion analysis laboratory the subjects walked over a level surface and an uphill and downhill slope. Gait velocity and lower limb joint angles were measured. Results: In uphill walking hip and knee flexion at initial contact and hip flexion in swing were increased in the prosthetic limb of transtibial amputees. In downhill walking transtibial amputees showed more knee flexion on the prosthetic side in late stance and swing. Transfemoral amputees were not able to increase prosthetic knee flexion in uphill and downhill walking. An important adjustment strategy in both amputee Groups was a smaller hip extension in late stance in uphill and downhill walking, probably related with a shorter step length. In addition, amputees increased knee flexion in early stance in the non-affected limb in uphill walking to compensate for the shorter prosthetic limb length. In downhill walking fewer adjustments were necessary, since the shorter prosthetic limb already resulted in lowering of the body. Conclusion: Uphill and downhill walking can be trained in rehabilitation, which may improve safety and confidence of amputees. Prosthetic design should focus on better control of prosthetic knee flexion abilities without reducing stability. (c) 2007 Elsevier B.V. All fights reserved

Musculoskeletal complaints and disability in a group of young adults with major congenital upper limb differences in The Netherlands

Purpose: To determine prevalence of musculoskeletal complaints (MSCs) in adults with major congenital upper limb differences (CoULD) compared to able-bodied controls, and to examine associations of MSCs and disability with various biopsychosocial factors. Materials and methods: Questionnaire-based cross-sectional study assessing MSCs, disability (using the Disabilities of the Arm, Shoulder and Hand questionnaire (DASH)), general and mental health status, physical work demands, and upper extremity range of motion. Results: Seventy-one individuals with CoULD (participation rate: 41%) and 71 controls matched on age, gender, and education were included (49% female, mean age 28.9 years). Year prevalence of MSCs was significantly higher in the CoULD group (35%) than in the control group (18%). The CoULD group was less often employed and had lower scores on all measures of upper limb range of motion and hand grip. MSCs were associated with higher DASH scores and higher reported work demands. Disability was associated with female gender, more joints with limited range of motion, unemployment, and lower general and mental health. Factors associated with disability did not differ between groups.Conclusions: MSCs are a frequent problem in young adults with major CoULD. To prevent or reduce MSC and disability, clinicians and researchers should be aware of the associated factors. Implications for rehabilitation The year prevalence of musculoskeletal complaints (MSCs) in those with major congenital upper limb differences (CoULD) was approximately double to that of the control group, implying a potential relationship between CoULD and MSCs. Rehabilitation professionals should develop personalized strategies to manage work demands in those with CoULD, considering the association between MSCs and higher reported work demands. Recognizing the impact of a negatively perceived body image on mental health, clinicians should integrate psychological counseling into rehabilitation treatments to support mental well-being and improve overall quality of life in those with CoULD. Rehabilitation professionals should educate individuals with CoULD about the potential associations between upper limb work demands, MSCs, and disability.</p

Outcomes in Dutch DPP6 risk haplotype for familial idiopathic ventricular fibrillation:a focused update

Background: The genetic risk haplotype DPP6 has been linked to familial idiopathic ventricular fibrillation (IVF), but the associated long-term outcomes are unknown. Methods: DPP6 risk haplotype-positive family members (DPP6 cases) and their risk haplotype-negative relatives (DPP6 controls) were included. Clinical follow-up data were collected through March 2023. Implantable cardioverter-defibrillator (ICD) indication was divided in primary or secondary prevention. Cumulative survival and event rates were calculated. Results: We included 327 DPP6 cases and 315 DPP6 controls. Median follow-up time was 9 years (interquartile range: 4–12). Of the DPP6 cases, 129 (39%) reached the composite endpoint of appropriate ICD shock, sudden cardiac arrest or death, at a median age of 45 years (range: 15–97). Median overall survival was 83 years and 87 years for DPP6 cases and DPP6 controls, respectively (p &lt; 0.001). In DPP6 cases, median overall survival was shorter for males (74 years) than females (85 years) (p &lt; 0.001). Of the DPP6 cases, 97 (30%) died, at a median age of 50 years. With a prophylactic ICD implantation advise based on risk haplotype, sex and age, 137 (42%) of DPP6 cases received an ICD, for primary prevention (n = 109) or secondary prevention (n = 28). In the primary prevention subgroup, 10 patients experienced a total of 34 appropriate ICD shocks, and there were no deaths during follow-up. DPP6 cases with a secondary prevention ICD experienced a total of 231 appropriate ICD shocks.Conclusion: Patients with the DPP6 risk haplotype, particularly males, are at an increased risk of IVF and sudden cardiac death. Using a risk stratification approach based on risk haplotype, sex and age, a substantial proportion of patients with a primary prevention ICD experienced appropriate ICD shocks, showing the benefit of prophylactic ICD implantation with this strategy.</p