Deterioration in multifocal motor neuropathy upon treatment of immune-related adverse events of checkpoint inhibition.

Immune checkpoint inhibitors (ICIs) have significantly improved the clinical outcome in multiple types of advanced or metastatic malignancies and are prescribed increasingly. However, immune-related adverse events (irAEs) occur frequently. Here, we present a patient with multifocal motor neuropathy and melanoma, with worsening of muscle weakness upon ICI therapy and concomitant use of steroids for the treatment of hepatitis, which was considered an irAE.

Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.

Introduction/aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Background: The importance of early diagnosis of 5q-Spinal muscular atrophy (5q-SMA) has heightened as early intervention can significantly improve clinical outcomes. In 96% of cases, 5q-SMA is caused by a homozygous deletion of SMN1. Around 4 % of patients carry a SMN1 deletion and a single-nucleotide variant (SNV) on the other allele.

Recovery of Chronic Inflammatory Demyelinating Polyneuropathy on Treatment With Ocrelizumab in a Patient With Co-Existing Multiple Sclerosis.

The chimeric anti-CD20 antibody rituximab has demonstrated good efficacy as an off-label treatment in chronic inflammatory demyelinating polyneuropathy (CIDP), while the humanized anti-CD20 antibody ocrelizumab has been approved for treatment of multiple sclerosis (MS), whereas there is no evidence for its use in CIDP so far. We present a patient suffering from CIDP and MS, both refractory to standard treatment and both showing marked improvement on ocrelizumab. To the best of our knowledge, this is a unique report of CIDP with an almost full electrophysiological recovery on ocrelizumab which could be considered as a potential treatment option for refractory CIDP.

Impaired Inhibitory Control of Saccadic Eye Movements in Cervical Dystonia: An Eye-Tracking Study.

Background: The pathophysiology of cervical dystonia is still unclear. Recent evidence points toward a network disorder affecting several brain areas. The objective of this study was to assess the saccadic inhibition as a marker of corticostriatal function in cervical dystonia.

Consistency of "Probable RBD" Diagnosis with the RBD Screening Questionnaire: A Follow-up Study.

Introduction: The aim of this study was to evaluate the consistency of "probable RBD" diagnosis with the RBD screening questionnaire (RBDSQ) assessed 2 years apart in a population-based study.

Methods: Probable RBD was assessed by RBDSQ in 2008 and in 2010 in the Bruneck Study Cohort, with participants aged ≥60 years.

Results: A total of 437 participants completed the RBDSQ in 2008 and 2010.

Prodromal Parkinson's disease as defined per MDS research criteria in the general elderly community.

Background: Recently, the International Parkinson and Movement Disorder Society has defined research criteria for prodromal Parkinson's disease (PD), but to date their predictive value has not yet been tested in population-based cohorts.

Methods: We retrospectively applied these criteria to the longitudinal Bruneck Study cohort aged 55-94 years using recorded data on all included risk and prodromal markers that are quick and easily assessable.

Results: After excluding participants with idiopathic PD or secondary parkinsonism, prevalence of probable prodromal PD in the remaining 539 participants was 2.

The onset of nonmotor symptoms in Parkinson's disease (the ONSET PD study).

Nonmotor symptoms (NMS) in Parkinson's disease (PD) can precede onset of motor symptoms. Relationship between premotor symptoms onset and motor features is limited. Our aim is to describe the presence and perceived onset of NMS in PD as well as their possible association with motor phenotype.

Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.

Background: We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.

Results: Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3.

Conclusions: We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap.

Significance of MRI in diagnosis and differential diagnosis of Parkinson's disease.

The differential diagnosis of parkinsonian syndromes is considered one of the most challenging in neurology, even for movement disorder specialists. Despite published consensus operational criteria for the diagnosis of Parkinson's disease (PD) and the various atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy, multiple system atrophy, and corticobasal syndrome, the clinical separation of APDs from PD carries a high rate of misdiagnosis. However, an early differentiation between APD and PD, each characterized by a largely different natural history, is crucial for determining the prognosis and choosing a treatment strategy.

Potential of advanced MR imaging techniques in the differential diagnosis of parkinsonism.

The clinical differentiation of parkinsonian syndromes remains challenging not only for neurologists but also for movement disorder specialists. Conventional magnetic resonance imaging (cMRI) with the visual assessment of T2- and T1-weighted imaging as well as different advanced MRI techniques offer objective measures, which may be a useful tool in the diagnostic work-up of Parkinson's disease and atypical parkinsonian disorders (APDs). In clinical practice, cMRI is a well-established method for the exclusion of symptomatic parkinsonism due to other pathologies.

[A pilot study of fathers on parental leave in Tirol.].

The current study examines fathers in parental leave in Tirol. The authors have come to realise that systematic reflections concerning fathers on leave of their work are rare. The authors attempt to answer the following question: does parental leave have implications on child/father attachment? The pilot study examines a small sample of 15 father/child couples.

Body fat perception in eating-disordered men.

Objective: We sought to assess the relative roles of body fat ideals and body fat perception in men with eating disorders.

Method: We compared 27 men meeting criteria for a current eating disorder (17 with anorexia nervosa and 10 with bulimia nervosa), 21 male mountain climbers, and 21 control men, using a computerized test of body image, the "somatomorphic matrix."

Results: When asked to choose the body that they "ideally would like to have," men with eating disorders selected an image with body fat closely comparable to that chosen by the control men.

Therapeutic outcome of adjustable gastric banding in morbid obese patients.

We examined 77 obese patients treated with bariatric surgery in order to analyse treatment success, and compare those with a good or a poor outcome. The subjects, who were recruited one year after undergoing adjustable gastric banding, were asked questions concerning their sociodemographic status, postoperative course, past and present weight status, eating behaviours and difficulties in changing eating habits. Furthermore, we also used two body image questionnaires, and considered the patients' evaluations of positive and negative changes, as well as their wishes for the future.

Partnership, sexuality, and sexual disorders in morbidly obese women: consequences of weight loss after gastric banding.

Background: A study was performed to determine what consequences surgery for morbid obesity has on sexual attitudes and partnership in obese female patients.

Method: Semi-structured interviews concerning sociodemographic data, sexuality and relationship were conducted on 82 female patients preoperatively and at least 1 year postoperatively.

Results: Physical appearance played the main role in the decision to undergo weight reduction surgery in only 17% of the study patients.

Risk profile of SSrIs in elderly depressive patients with co-morbid physical illness.

Background: So far, most studies on treatment strategies in elderly depressive patients have included only patients in good physical health, thereby excluding and neglecting somatic co-morbidity, which is very prevalent and relevant in geriatric psychiatry.

Method: 40 elderly depressive inpatients at the Department of Internal Medicine in Hochzirl who had started on SSRI monotherapy were allocated to this prospective post-marketing surveillance study. A stable medication for their physical illness for at least six months was a prerequisite.

Time-saving tips for preparing your manuscript: strategies for acceptance on the first attempt!

This experienced nurse author and reviewer describes ways to avoid the 10 time-wasters in developing a manuscript. Many of these strategies can help lead to acceptance of the manuscript on the first submission, thus saving revision time.

A novel equipment bridge for helicopter transport of critically ill patients.

A three-piece equipment bridge designed to simplify transfer of critically ill patients by helicopter or land ambulance is described. A lightweight, support frame is first secured onto a standard stretcher while still allowing access to the patient. An equipment module can then be attached to the frame.