Prenatal diagnosis of morquio disease type A using a simple fluorometric enzyme assay

A new fluorogenic substrate, 4 methylumbelliferyl B-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one

The Effect of a Personalized Newsletter to Physical Therapists on Patient Recruitment:A Cluster Randomized Trial in Primary Physiotherapy Care

Objective: To assess the effect of a personalized newsletter compared with a standard newsletter on patient recruitment in physiotherapy research. Methods: We performed a cluster-randomized trial including 120 physiotherapists who recruited patients for a prospective cohort and were randomly assigned to either receiving personalized feedback in a newsletter (intervention group) or a standard newsletter (control group). We calculated the difference in the number of patients included in the study corrected for inclusion time between both groups. Results: The physiotherapists in the control group (n = 59) included 110 patients (35.4% of the total number of patients included) compared with an inclusion of 200 patients (64.6% of the total number of patients included) by the physiotherapists in the intervention group (n = 61), a difference of 90 patients in favor of the intervention group. However, when corrected for inclusion time and a cluster effect, we found no statistically significant difference between both groups. In addition, therapists who did not include a single patient (inactive therapists) were evenly divided between the 2 groups (n = 29 [49%] in the control group; n = 30 [49%] in the intervention group). Conclusions: A personalized newsletter does not significantly increase the number of recruited patients by physiotherapists. However, therapists receiving personalized feedback recruited nearly double the number of patients compared with the ones receiving standard feedback

Diagnostic ultrasound in patients with shoulder pain:An inter-examiner agreement and reliability study among Dutch physical therapists

Study designA cross-sectional inter-examiner agreement and reliability study among physical therapists in primary care.Backgroundmusculoskeletal ultrasound (MSU) is frequently used by physical therapists to improve specific diagnosis in patients with shoulder pain, especially for the diagnosis rotator cuff tendinopathy (RCT) including tears.ObjectivesTo estimate the inter-examiner agreement and reliability in physical therapists using MSU for patients with shoulder pain.MethodsPhysical therapists performed diagnostic MSU in 62 patients with shoulder pain. Both physical therapists were blinded to each other's results and patients were not informed about the test results. We calculated the overall inter-examiner agreement, specific positive and negative inter-examiner agreement, and inter-examiner reliability (Cohen's Kappa's).ResultsOverall agreement for detecting RC ruptures ranged from 61.7% to 85.5% and from 43.9% to 91.4% for specific positive agreement. The specific negative agreement was lower with values ranging from 44.4% to 79.1% for RC ruptures. Overall agreement for other pathology than ruptures related to SAPS, ranged from 72.6% to 93.6% and from 77.3% to 96% for specific positive agreement. The specific negative agreement was lower with values ranging from 44.4% to 79.1% for RC ruptures and 52.5%-83.3% for other pathology than ruptures related to SAPS. Reliability values varied from substantial for any thickness ruptures to moderate for partial thickness ruptures and fair for full thickness tears. Moreover, reliability was fair for cuff tendinopathy. The reliability for AC arthritis and no pathology found was fair and moderate. There was substantial agreement for the calcifying tendinopathy.ConclusionsPhysical therapists using MSU agree on the diagnosis of cuff tendinopathy and on the presence of RCT in primary care, but agree less on the absence of pathology

β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

Summary β-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and r

Agreement between physical therapists and radiologists of stratifying patients with shoulder pain into new treatment related categories using ultrasound; an exploratory study

© 2019 Elsevier Ltd Study design: A systematic overview of the literature and an agreement study. Objectives: The aim of this study is to explore the inter-professional agreement of diagnostic musculoskeletal ultrasound (DMUS) between physical therapists (PT) and radiologists, using a new classification strategy based upon the therapeutic consequences in patients with shoulder pain. Background: DMUS is frequently used by PTs, although the agreement regarding traditional diagnostic labels between PTs and radiologists is only fair. Nevertheless, DMUS could be useful when used as a stratifying-tool. Methods: First, a systematic overview of current evidence was performed to assess which traditional diagnostic labels could be recoded into new treatment related categories (referral to secondary care, corticosteroid injections, physical therapy, watchful waiting). Next, kappa values were calculated for these categories between PTs and radiologists. Results: Only three categories were extracted, as none of the traditional diagnostic labels were classified into the ‘corticosteroid injection’ category. Overall, we found moderate agreement to stratify patients into treatment related categories and substantial agreement for the category ‘referral to secondary care’. Both categories ‘watchful waiting’ and ‘indication for physical therapy’ showed moderate agreement between the two professions. Conclusion: Our results indicate that the agreement between radiologists and PTs is moderate to substantial when labelling is based on treatment consequences. DMUS might be able to help the PT to guide treatment, especially for the category ‘referral to secondary care’ as this showed the highest agreement. However, as this is just an explorative study, more research is needed, to validate and assess the consequences of this stratification classification for clinical care

Current management and prognostic factors in physiotherapy practice for patients with shoulder pain: Design of a prospective cohort study

Background: Shoulder pain is disabling and has a considerable socio-economic impact. Over 50% of patients presenting in primary care still have symptoms after 6 months; moreover, prognostic factors such as pain intensity, age, disability level and duration of complaints are associated with poor outcome. Most shoulder complaints in this group are categorized as non-specific. Musculoskeletal ultrasound might be a useful imaging method to detect subgroups of patients with subacromial disorders.This article describes the design of a prospective cohort study evaluating the influence of known prognostic and possible prognostic factors, such as findings from musculoskeletal ultrasound outcome and working alliance, on the recovery of shoulder pain. Also, to assess the usual physiotherapy care for shoulder pain and examine the inter-rater reliability of musculoskeletal ultrasound between radiologists and physiotherapists for patients with shoulder pain. Methods. A prospective cohort study including an inter-rater reliability study. Patients presenting in primary care physiotherapy practice with shoulder pain are enrolled. At baseline validated questionnaires are used to measure patient characteristics, disease-specific characteristics and social factors. Physical examination is performed according to the expertise of the physiotherapists. Follow-up measurements will be performed 6, 12 and 26 weeks after inclusion. Primary outcome measure is perceived recovery, measured on a 7-point Likert scale. Logistic regression analysis will be used to evaluate the association between prognostic factors and recovery. Discussion. The ShoCoDiP (Shoulder Complaints and using Diagnostic ultrasound in Physiotherapy practice) cohort study will provide information on current management of patients with shoulder pain in primary care, provide data to develop a prediction model for shoulder pain in primary care and to evaluate whether musculoskeletal ultrasound can improve prognosis