Publications by authors named "V ALTMANN"

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.

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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.

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Article Synopsis
  • Gaucher disease (GD) is an inherited disorder caused by a deficiency in the enzyme glucocerebrosidase due to genetic mutations, and this study focuses on the genetic profiles of 72 Brazilian patients with the disease.
  • The research identified 31 pathogenic variants, with the N370S mutation being the most common, found in 41% of patients, and a significant genotype was N370S/RecI, present in 23.6% of the cases.
  • Two new variants were discovered, and while full exon sequencing is the best approach, the study suggests a targeted analysis of specific exons could be effective for Brazilian GD patients.
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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.

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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.

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