Genome-wide meta-analysis of short-tandem repeats for Parkinson's disease risk using genotype imputation.

Idiopathic Parkinson's disease is determined by a combination of genetic and environmental factors. Recently, the first genome-wide association study on short-tandem repeats in Parkinson's disease reported on eight suggestive short-tandem repeat-based risk loci ( = 5.3 × 10), of which four were novel, i.

International Classification of Diseases-10th Revision Surrogates of the Modified Frailty Index and 12-Month Referral to the Hospital in an Older Population from Germany.

The International Classification of Diseases-10th revision (ICD-10) surrogates of the modified frailty index (mFI) have been defined in recent research. This study aimed to investigate the prevalence of these ICD-10 surrogates and their association with hospital referral in an older population from Germany. The present sample included adults aged ≥65 years followed in German general practices between 2010 and 2021.

Orthopedic footwear has a positive influence on gait adaptability in individuals with hereditary motor and sensory neuropathy.

Background: Individuals with Hereditary Motor and Sensory Neuropathy (HMSN) are commonly provided with orthopedic footwear to improve gait. Although orthopedic footwear has shown to improve walking speed and spatiotemporal parameters, its effect on gait adaptability has not been established.

Research Question: What is the effect of orthopedic footwear on gait adaptability in individuals with HMSN?

Methods: Fifteen individuals with HMSN performed a precision stepping task on an instrumented treadmill projecting visual targets, while wearing either custom-made orthopedic or standardized footwear (i.

[An new application of gait analysis: guidance in finding the underlying health condition].

Instrumented gait analysis was developed to assist in clinical decision-making to optimise treatment to improve walking in patients with complex gait problems. In this clinical lesson, two cases are presented in which instrumented gait analysis was used for a different goal. It was used to assist in finding the correct neurological or orthopaedic diagnosis in patients in whom symptoms occurred during walking.

Development of Tests for Arm Coordination Impairment in Paralympic Classification.

Background: In Paralympic sport, classification of impairment with the ability to detect misrepresentation of abilities is mandatory. In wheelchair rugby, there is currently no objective method to classify arm coordination impairment. In previous research, sufficient correlation between the spiral test (ST) and activity in wheelchair rugby was found in athletes with coordination impairment.

Objective Measurement of Ball-Handling Proficiency in Wheelchair Sports: A Systematic Review.

Background: In Paralympic sports, classification of athletes based on the impact of impairments on the ability to perform is needed, to prevent a one-sided and predictable outcome of the competition in which the least impaired athlete has the best chance to win. Classification is developing from expert opinion based to evidence based. In wheelchair court sports, there is evidence to support the impact of impairment on wheeled mobility, but not on ball handling.

Effects of orthopedic footwear on postural stability and walking in individuals with Hereditary Motor Sensory Neuropathy.

Background: Orthopedic footwear is often prescribed to improve postural stability during standing and walking in individuals with Hereditary Motor Sensory Neuropathy. However, supporting evidence in literature is scarce. The aim of this study was to investigate the effect of orthopedic footwear on quiet standing balance, gait speed, spatiotemporal parameters, kinematics, kinetics and dynamic balance in individuals with Hereditary Motor Sensory Neuropathy.

Management of gait impairments in people with Charcot-Marie-Tooth disease: A treatment algorithm.

Gait impairments in people with Charcot Marie Tooths disease are the combined result of ankle-foot deformities, muscle weakness, and somatosensory impairments. People with Charcot-Marie-Tooth disease often experience pain and difficulties when walking, especially barefoot. They also trip and fall frequently and have a lower than normal gait speed and distance.

A Case-Control Study of the Effects of () and Coffee on Parkinson's Disease.

Coffee has been inversely associated with Parkinson's disease (PD) in many studies, and caffeine is the leading candidate to mediate this effect. (, IP), a caffeinated beverage rich in antioxidants consumed in South America, was also inversely associated with PD in one study from Argentina. Other varieties of IP infusion, such as , were never studied in PD.

Validation of new measures of arm coordination impairment in Wheelchair Rugby.

This study aims were twofold: (1) to evaluate the construct validity of the Repetitive Movement Test (RMT) a novel test developed for Wheelchair Rugby classification which evaluates arm coordination impairment at five joints - shoulder, elbow, forearm, wrist and fingers - and (2), pending sufficiently positive results, propose objective minimum impairment criteria (MIC). Forty-two WR athletes with an eligible coordination impairment, and 20 volunteers without impairment completed the RMT and two clinically established coordination tests: the finger-nose test (FNT) and the spiral test (ST). Coordination deduction (CD), an ordinal observational coordination scale, currently used in WR classification, was obtained.

Optimising classification of proximal arm strength impairment in wheelchair rugby: A proof of concept study.

This study examined the relationship between proximal arm strength and mobility performance in wheelchair rugby (WR) athletes and examined whether a valid structure for classifying proximal arm strength impairment could be determined. Fifty-seven trained WR athletes with strength impaired arms and no trunk function performed six upper body isometric strength tests and three 10 m sprints in their rugby wheelchair. All strength measures correlated with 2 m and 10 m sprint times (r ≥ -0.

Specialised orthotic care to improve functioning in adults with neuromuscular disorders: protocol of a prospective randomised open-label blinded end-point study.

Introduction: People suffering from leg muscle weakness caused by neuromuscular disorders (NMDs) are often provided with leg orthoses to reduce walking problems such as increased walking effort, diminished walking speed, reduced balance and falls. However, evidence for the effectiveness of leg orthoses to improve walking in this patient group is limited and there is an absence of standardised practice in orthotic prescription. In 2012 a Dutch multidisciplinary guideline was developed aimed to standardise the orthotic treatment process in NMD.

Stiffness-Optimized Ankle-Foot Orthoses Improve Walking Energy Cost Compared to Conventional Orthoses in Neuromuscular Disorders: A Prospective Uncontrolled Intervention Study.

In persons with calf muscle weakness, walking energy cost is commonly increased due to persistent knee flexion and a diminished push-off. Provided ankle-foot orthoses (AFOs) usually lower walking energy cost. To maximize the reduction in energy cost, AFO bending stiffness should be individually optimized, but this is not common practice.

The Rare Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis.

The locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly ( = 0.02).

Validity and reliability of isometric tests for the evidence-based assessment of arm strength impairment in wheelchair rugby classification.

Objectives: The purpose of this study was to examine the validity and test-retest reliability of a battery of single-joint isometric strength tests, to establish whether the tests could be used for evidence-based classification in wheelchair rugby (WR).

Design: Cross-sectional.

Methods: Twenty male WR athletes with impaired arm strength and thirty able-bodied (AB) participants (15 male, 15 female) performed four isometric strength tests.

Understanding the Impact of Trunk and Arm Impairments on Wheelchair Rugby Performance During Competition.

To determine the effect of trunk and arm impairments on physical and technical performance during wheelchair rugby (WR) competition. Thirty-one highly trained WR players grouped according to their trunk (no trunk [NT]; some trunk [T] function) and arm impairments (poor, moderate, and good arm function) participated in 5 WR matches. Players' physical (wheelchair mobility) and technical (ball handling) activities were analyzed using an indoor tracking system and video analysis, respectively.

Cortisol levels, motor, cognitive and behavioral symptoms in Parkinson's disease: a systematic review.

Parkinson's disease (PD) is a progressive and multifactorial neurodegenerative disease. It has been suggested that a dysregulation of the hypothalamic-pituitary-adrenal axis (HPA) occurs in PD. Furthermore, this dysregulation may be involved in triggering, exacerbation or progression of disease.

Fitts' Law is Applicable to Trunk Coordination Measurements in a Sitting Position.

Trunk coordination is essential for many activities of daily living in wheelchair users. This study investigated whether Fitts' law is applicable to trunk movements in a sitting position. Fourteen healthy adults performed two series of 24 tasks of trunk flexion-extension movements in a sitting position.

Tumor necrosis factor alpha polymorphisms are associated with Parkinson's disease age at onset.

The role of neuroinflammation in Parkinson's disease (PD) has been demonstrated through several different approaches. It was suggested an inflammation-derived oxidative stress and cytokine-dependent toxicity role in the nigrostriatal pathway degeneration and hasten progression of disease. Tumor necrosis factor alpha (TNFA) gene promoter polymorphisms might alter the expression of this cytokine contributing to the pro- and anti-inflammatory polarization.

Classifying trunk strength impairment according to the activity limitation caused in wheelchair rugby performance.

International Federations in Paralympic sports should develop evidence-based classification, based on the relative strength of association between impairment and activities that determine sport-specific performance. The purpose of the current study was to assess the relationship between trunk strength impairment and three activities that determine performance in wheelchair rugby, and to determine whether this relationship supports the concept of "natural classes." Trunk muscle strength and three determinants of performance were assessed in 27 athletes.

Association between DRD2 and DRD3 gene polymorphisms and gastrointestinal symptoms induced by levodopa therapy in Parkinson's disease.

Levodopa is the most used drug to treat motor symptoms in Parkinson's disease (PD). However, dopaminergic side effects such as nausea and vomiting may occur. Several evidences indicate a major role for dopamine receptors D2 (DRD2) and D3 (DRD3) in emetic activity.

The impact of trunk impairment on performance-determining activities in wheelchair rugby.

In Paralympic sport, classification of impairment is needed to prevent a one-sided and predictable outcome of competition, in which the least impaired athlete has the best chance to win. To develop evidence-based classification in wheelchair rugby, the impact of trunk impairment, measured by the Trunk Impairment Classification (TIC), on performance-determining activities was assessed. Arm impairment was analyzed as a covariant.

Influence of genetic, biological and pharmacological factors on levodopa dose in Parkinson's disease.

Aim: Levodopa is first-line treatment of Parkinson's disease motor symptoms but, dose response is highly variable. Therefore, the aim of this study was to determine how much levodopa dose could be explained by biological, pharmacological and genetic factors.

Patients & Methods: A total of 224 Parkinson's disease patients were genotyped for SV2C and SLC6A3 polymorphisms by allelic discrimination assays.

Val66Met BDNF polymorphism is associated with Parkinson's disease cognitive impairment.

Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Besides characteristic PD motor features, the disease has important non-motor characteristics such as cognitive impairment. The role of genetic factors in cognitive impairment associated with PD is still unclear.