Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands.

Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands.

The 2022 European postgraduate (residency) programme in neurology in a historical and international perspective.

Background And Purpose: Neurology residency programmes, which were first established at the beginning of the 20th century, have become mandatory all over Europe in the last 40-50 years. The first European Training Requirements in Neurology (ETRN) were published in 2005 and first updated in 2016. This paper reports the most recent revisions of the ETRN.

Outcomes after robotic thymectomy in nonthymomatous versus thymomatous patients with acetylcholine-receptor-antibody-associated myasthenia gravis.

The aim of this study was to investigate the surgical and long-term neurological outcomes of patients with acetylcholine-receptor-antibody-associated myasthenia gravis (AChR-MG) who underwent robotic thymectomy (RATS). We retrospectively analyzed the clinical-pathological data of all patients with AChR-MG who underwent RATS using the DaVinci® Robotic System at the MUMC+ between April 2004 and December 2018. Follow-up data were collected from 60 referring Dutch hospitals.

Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.

Background: The slow channel syndrome is a rare hereditary disorder caused by a dominant gain-of-function variant in one of the subunits of the acetylcholine receptor at the neuromuscular junction. Patients typically experience axial, limb and particularly extensor finger muscle weakness.

Objective: Age at diagnosis is variable and although the long-term prognosis is important for newly diagnosed patients, extensive follow-up studies are rare.

Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial.

Background: Treatment with one standard dose (2 g/kg) of intravenous immunoglobulin is insufficient in a proportion of patients with severe Guillain-Barré syndrome. Worldwide, around 25% of patients severely affected with the syndrome are given a second intravenous immunoglobulin dose (SID), although it has not been proven effective. We aimed to investigate whether a SID is effective in patients with Guillain-Barré syndrome with a predicted poor outcome.

Vibration threshold in non-diabetic subjects.

Measuring vibration perception threshold (VPT) accurately classifies and quantifies the severity of loss of vibration perception. A biothesiometer (Bio-thesiometer®; Bio Medical Instrument Co, Ohio, USA) appears to be the most suitable tool to determine VPT due to its low inter-rater variability and low occurence of adaption to the sensation. Different VPT values for a biothesiometer have been described, however, specification on age, height and different measurement locations is currently lacking.

Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.

Objective: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP.

Methods: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin ( gene mutation carriers (v carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and v carriers (HC/v).

How students and specialists appreciate the mini-clinical evaluation exercise (mini-CEX) in Indonesian clerkships.

Background: Cultural differences might challenge the acceptance of the implementation of assessment formats that are developed in other countries. Acceptance of assessment formats is essential for its effectiveness; therefore, we explored the views of students and specialists on the practicality and impact on learning of these formats. This study was conducted to explore Indonesian students' and specialists' appreciation of the implementation of the Mini-Clinical Evaluation Exercise (Mini-CEX) in Indonesian clerkships.

Long-term follow-up, quality of life, and survival of patients with Lambert-Eaton myasthenic syndrome.

Objective: To study survival and to characterize long-term functional impairments and health-related quality of life (HRQOL) of patients with Lambert-Eaton myasthenic syndrome (LEMS).

Methods: In this observational study, survival of patients with LEMS, separately for nontumor (NT) and small cell lung cancer (SCLC), was compared to that of the Dutch general population and patients with SCLC. Disease course in patients with LEMS was recorded retrospectively.

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis.

Serum Acetylcholine Receptor Antibodies Before the Clinical Onset of Myasthenia Gravis.

A patient with autoimmune myasthenia gravis and a clinical and serological follow-up of 13 years is described. In this unique case, serum samples were available up to two years before the clinical onset of the myasthenia gravis and showed gradual increase of acetylcholine receptor antibodies, starting two years before onset of the clinical symptoms.

Clinical workplace learning: perceived learning value of individual and group feedback in a collectivistic culture.

Background: Feedback is essential for workplace learning. Most papers in this field concern individual feedback. In collectivistic cultures, however, group feedback is common educational practice.

The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases.

Purpose: People with neuromuscular disease experience lower quality of life levels than people from the general population. We examined the prevalence and severity of a broad range of neuromuscular disease-related disabilities and their impact on health-related quality of life.

Materials And Methods: A cross-sectional postal survey study was conducted among patients diagnosed with neuromuscular disease.

Stability and relative validity of the Neuromuscular Disease Impact Profile (NMDIP).

Background: The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed good internal consistency, convergent and discriminant validity. Known-groups analysis showed that the NMDIP discriminates between categories of extent of limitations.

Influence of feedback characteristics on perceived learning value of feedback in clerkships: does culture matter?

Background: Various feedback characteristics have been suggested to positively influence student learning. It is not clear how these feedback characteristics contribute to students' perceived learning value of feedback in cultures classified low on the cultural dimension of individualism and high on power distance. This study was conducted to validate the influence of five feedback characteristics on students' perceived learning value of feedback in an Indonesian clerkship context.

The extremity function index (EFI), a disability severity measure for neuromuscular diseases: psychometric evaluation.

Objective: To adapt and to combine the self-report Upper Extremity Functional Index and Lower Extremity Function Scale, for the assessment of disability severity in patients with a neuromuscular disease and to examine its psychometric properties in order to make it suitable for indicating disease severity in neuromuscular diseases.

Design: A cross-sectional postal survey study was performed among patients diagnosed with a neuromuscular disease.

Methods: Patients completed both adapted extremity function scales, questionnaires for psychometric evaluation, and disease-specific questions.

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands.

Based on approximately eight years of data collection with the nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) in the Netherlands, recent epidemiologic information for thirty neuromuscular disorders is presented. This overview includes age and gender data for a number of neuromuscular disorders that are either relatively frequently seen in the neuromuscular clinic, or have a particular phenotype. Since 2004, over 20,000 individuals with a neuromuscular disorder were registered in CRAMP; 56% men and 44% women.

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis.

Muscle-specific kinase (MuSK) myasthenia gravis (MG) is hallmarked by the predominant involvement of bulbar muscles and muscle atrophy. This might mimic amyotrophic lateral sclerosis (ALS) presenting with bulbar weakness. We encountered four cases of MuSK MG patients with an initial misdiagnosis of ALS.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Muscle weakness in MuSK myasthenia gravis (MG) is caused predominantly by IgG4 antibodies which block MuSK signalling and destabilize neuromuscular junctions. We determined whether the binding pattern of MuSK IgG4 antibodies change throughout the disease course ("epitope spreading"), and affect disease severity or treatment responsiveness. We mapped the MuSK epitopes of 255 longitudinal serum samples of 53 unique MuSK MG patients from three independent cohorts with ELISA.

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.

Purpose Of Review: These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene.

Recent Findings: The effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease.

Development and testing psychometric properties of an ICF-based health measure: The Neuromuscular Disease Impact Profile.

Objectives: To develop a measure that is based on the International Classification of Functioning, Disability and Health (ICF) and reflects the prevalence and severity of disabilities related to neuromuscular disorders, and to evaluate the psychometric properties of this measure.

Methods: A preliminary questionnaire was developed, based on the categories of the ICF Core Set for Neuromuscular Diseases. Next a cross-sectional postal survey was carried out among 702 patients (70% response rate) diagnosed with a neuromuscular disease.

Robotic thymectomy in patients with myasthenia gravis: neurological and surgical outcomes.

Objectives: Thymectomy is frequently used in the treatment of myasthenia gravis (MG). But indication, timing or surgical approach remain controversial. This study reports our experiences with robotic thymectomy and surgical and neurological outcomes in a large cohort of patients with MG.

Meeting international standards: a cultural approach in implementing the mini-CEX effectively in Indonesian clerkships.

Unlabelled: Abstract Background: Medical schools all over the world try to adapt their programs to meet international standards. However, local culture might hamper innovation attempts.

Aims: To describe challenges in implementing the mini-CEX in Indonesia and investigate its effect on students' clinical competence.

Student distress in clinical workplace learning: differences in social comparison behaviours.

In medical education, student distress is known to hamper learning and professional development. To address this problem, recent studies aimed at helping students cope with stressful situations. Undergraduate students in clinical practice frequently use experiences of surrounding peers to estimate their abilities to master such challenging situations.

Exploring cultural differences in feedback processes and perceived instructiveness during clerkships: replicating a Dutch study in Indonesia.

Context: Cultural differences between countries may entail differences in feedback processes.

Aims: By replicating a Dutch study in Indonesia, we analysed whether differences in processes influenced the perceived instructiveness of feedback.

Methods: Over a two-week period, Indonesian students (n = 215) recorded feedback moments during clerkships, noting who provided the feedback, whether the feedback was based on observations, who initiated the feedback, and its perceived instructiveness.