Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged ≥50 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged ≥50 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50-54 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults ≥50 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults.
- MeSH
- Renal Insufficiency, Chronic * genetics diagnosis MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Testing * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Exome Sequencing MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
INTRODUCTION: Although the effects of carrying loads on gait biomechanics have been well-documented, to date, little evidence has been provided whether such loads may impact spatial and temporal gait asymmetries under the different foot regions. Therefore, the main purpose of the study was to examine the effects of carrying a standardized police equipment on spatiotemporal gait parameters. MATERIALS AND METHODS: In this population-based study, participants were 845 first-year police recruits (age: 21.2 ± 2.3 years; height: 178.1 ± 10.2 cm; weight: 78.4 ± 11.3 kg; body mass index: 24.7 ± 3.2 kg/m2; 609 men and 236 women; 72.1% men and 27.9% women) measured in 2 conditions: (i) "no load" and (ii) "a 3.5 kg load." Spatiotemporal gait parameters were derived from the FDM Zebris pressure platform. Asymmetry was calculated as (xright-xleft)/0.5*(xright + xleft)*100%, where "x" represented a given parameter being calculated and a value closer to 0 denoted greater symmetry. RESULTS: When compared to "no load" condition, a standardized 3.5 kg/7.7 lb load significantly increased asymmetries in spatial gait parameters as follows: gait phases of stance (mean diff. = 1.05), load response (mean diff. = 0.31), single limb support (mean diff. = 0.56), pre-swing (mean diff. = 0.22), and swing (mean diff. = 0.90) phase, while no significant asymmetries in foot rotation, step, and stride length were observed. For temporal gait parameters, we observed significant asymmetries in step time (mean diff. = -0.01), while no differences in cadence and gait speed were shown. CONCLUSIONS: The findings indicate that the additional load of 3.5 kg/7.7 lb is more likely to increase asymmetries in spatial gait cycle components, opposed to temporal parameters. Thus, external police load may have hazardous effects in increasing overall body asymmetry, which may lead to a higher injury risk and a decreased performance for completing specific everyday tasks.
- MeSH
- Biomechanical Phenomena physiology MeSH
- Gait * physiology MeSH
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Police * statistics & numerical data MeSH
- Weight-Bearing * physiology MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is a progressive disease characterized by disproportionate ventricular enlargement at brain imaging with gait disturbance and an increased risk of falling. Gait assessment is a key feature in the diagnosis of iNPH and characterization of post-surgical outcomes. RESEARCH QUESTION: How do gait parameters change 24 h after CSF tap test (CSFTT) and after ventriculoperitoneal shunt surgery? METHODS: The PRISMA guidelines were used to perform the systematic review. We conducted a search of the following electronic databases: PubMed, Medline, Web of Science and EBSCO. We included studies focusing on gait changes occurring 24 h after a CSFTT or after ventriculoperitoneal shunt surgery in patients with iNPH. All articles were assessed for methodological quality using an adapted version of The Standard Quality Assessment Criteria for Evaluating Primary Research Papers checklist. RESULTS: Twenty-seven studies were included in the systematic review. Studies were highly heterogeneous due to lack of standardization of CSFTT or shunt surgery methodology, with varying amounts of CSF removed during the tap test (20-50 ml) and varying time of outcome assessment after shunt surgery. Dynamic equilibrium measurements are generally used to assess preoperative levels of cardinal symptoms and postoperative outcomes in iNPH. The most sensitive spatio-temporal parameter assessed 24 h after CSFTT was self-selected walking speed followed by stride length, which increased significantly. Cadence is hence not suitable to consider in the evaluation of effect of CSFTT and shunt surgery. Changes in balance-related gait parameters after CSFTT and shunt surgery are still a controversial area of research. CONCLUSION: Gait assessment is a key feature in the diagnosis of iNPH and characterization of post-surgical outcomes. Dynamic equilibrium measurements are generally used to assess preoperative levels of cardinal symptoms and postoperative outcomes in iNPH, but quantitative and standardized gait analysis procedures are missing. Changes in balance-related gait parameters after CSFTT might be useful in deciding whether to perform shunt surgery in iNPH patients who hope for improvement in gait ability. The dual-task paradigm after CSFTT could improve the clinical evaluation of higher level frontal gait disturbances in patients with suspected iNPH before shunting.
- MeSH
- Gait * physiology MeSH
- Humans MeSH
- Hydrocephalus, Normal Pressure * surgery physiopathology cerebrospinal fluid diagnosis MeSH
- Cerebrospinal Fluid Shunts MeSH
- Spinal Puncture methods MeSH
- Ventriculoperitoneal Shunt MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Systematic Review MeSH
PURPOSE OF THE STUDY: The study describes changes in gait parameters (temporal-spatial parameters, kinematic parameters represented by the global Gait Deviation Index) of individuals with Adolescent Idiopathic Scoliosis (AIS) compared to the healthy population. The hypothesis assumed a difference in the observed parameters between the two mentioned groups. MATERIAL AND METHODS: In a retrospective study, the temporal-spatial parameters and Gait Deviation Index (GDI) of a cohort of 45 AIS patients (36 girls and 9 boys with the mean age of 15.2 years, the mean Cobb angle of the thoracic curve of 47.3° and the lumbar curve of 51.8°) were compared to a typically developing population of 12 healthy individuals with no musculoskeletal pathology. The difference of followed-up parameters in patients with AIS compared to normal values was assessed by one-sample Student's T-test at the significance level of p = 0.05. RESULTS: The gait analysis shows significant deviations in the gait stereotype of patients with AIS compared to the healthy population. Statistically significant differences within temporal-spatial parameters were confirmed for cadence, walking speed, step time, stride time for left leg, step length, stride length and step width. The mean GDI of the cohort reached the value of 91.07 that indicates a slight alteration of gait, however, even this change is statistically significant. DISCUSSION: In our cohort of patients with AIS, we identified a significantly reduced walking speed (on average 15.4% compared to normal values. At the same time, a reduction in cadence (by an average of 7.5%) and an increase of the stride time (by an average of 12%) were recorded. Our mean GDI values were 91.07, which is consistent with the results reported in the literature for comparable groups of AIS patients. CONCLUSIONS: Our study demonstrated that AIS significantly affects gait stereotype. The differences compared to the group of healthy individuals within temporal-spatial parameters were confirmed for cadence, walking speed, duration and length of step and stride, and step width. The kinematic analysis of gait using the global (GDI) index in patients with AIS demonstrated its slight alteration. A better understanding of the change in movement stereotypes and gait in patients with AIS can bring wider possibilities for individualizing conservative treatment and also can help prevent secondary changes in the locomotor system. KEY WORDS: adolescent idiopathic scoliosis, AIS, gait analysis, Gait Deviation Index, GDI.
- MeSH
- Gait Analysis * methods MeSH
- Biomechanical Phenomena MeSH
- Gait physiology MeSH
- Humans MeSH
- Adolescent MeSH
- Retrospective Studies MeSH
- Scoliosis * physiopathology MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- English Abstract MeSH
- Journal Article MeSH
In Parkinson's disease (PD), impaired gait and cognition affect daily activities, particularly in the more advanced stages of the disease. This study investigated the relationship between gait parameters, cognitive performance, and brain morphology in patients with early untreated PD. 64 drug-naive PD patients and 47 healthy controls (HC) participated in the study. Single- and dual-task gait (counting task) were examined using an expanded Timed Up & Go Test measured on a GaitRite walkway. Measurements included gait speed, stride length, and cadence. A brain morphometry analysis was performed on T1-weighted magnetic resonance (MR) images. In PD patients compared to HC, gait analysis revealed reduced speed (p < 0.001) and stride length (p < 0.001) in single-task gait, as well as greater dual-task cost (DTC) for speed (p = 0.007), stride length (p = 0.014) and cadence (p = 0.029). Based on the DTC measures in HC, PD patients were further divided into two subgroups with normal DTC (PD-nDTC) and abnormally increased DTC (PD-iDTC). For PD-nDTC, voxel-based morphometric correlation analysis revealed a positive correlation between a cluster in the left primary motor cortex and stride-length DTC (r = 0.57, p = 0.027). For PD-iDTC, a negative correlation was found between a cluster in the right lingual gyrus and the DTC for gait cadence (r=-0.35, pFWE = 0.018). No significant correlations were found in HC. The associations found between brain morphometry and gait performance with a concurrent cognitive task may represent the substrate for gait and cognitive impairment occurring since the early stages of PD.
- MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging * MeSH
- Brain * diagnostic imaging pathology physiopathology MeSH
- Gait Disorders, Neurologic * etiology physiopathology diagnostic imaging pathology MeSH
- Neuropsychological Tests MeSH
- Parkinson Disease * diagnostic imaging physiopathology pathology complications MeSH
- Aged MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
AIM: To investigate the presence and relationship of temporal speech and gait parameters in patients with postural instability/gait disorder (PIGD) and tremor-dominant (TD) motor subtypes of Parkinson's disease (PD). METHODS: Speech samples and instrumented walkway system assessments were acquired from a total of 60 de-novo PD patients (40 in TD and 20 in PIGD subtype) and 40 matched healthy controls. Objective acoustic vocal assessment of seven distinct speech timing dimensions was related to instrumental gait measures including velocity, cadence, and stride length. RESULTS: Compared to controls, PIGD subtype showed greater consonant timing abnormalities by prolonged voice onset time (VOT) while also shorter stride length during both normal walking and dual task, while decreased velocity and cadence only during dual task. Speaking rate was faster in PIGD than TD subtype. In PIGD subtype, prolonged VOT correlated with slower gait velocity (r = -0.56, p = 0.01) and shorter stride length (r = -0.59, p = 0.008) during normal walking, whereas relationships were also found between decreased cadence in dual task and irregular alternating motion rates (r = -0.48, p = 0.04) and prolonged pauses (r = -0.50, p = 0.03). No correlation between speech and gait was detected in TD subtype. CONCLUSION: Our findings suggest that speech and gait rhythm disorder share similar underlying pathomechanisms specific for PIGD subtype.
- MeSH
- Gait MeSH
- Walking MeSH
- Humans MeSH
- Gait Disorders, Neurologic * etiology MeSH
- Parkinson Disease * complications MeSH
- Postural Balance MeSH
- Speech MeSH
- Tremor MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
ABSTRACT: Marko, D, Bahenský, P, Snarr, RL, and Malátová, R. V̇ o2 peak Comparison of a treadmill vs. cycling protocol in elite teenage competitive runners, cyclists, and swimmers. J Strength Cond Res 36(10): 2875-2882, 2022-The purpose of this study was to compare the cardiorespiratory and metabolic responses of a maximal graded exercise test (GXT) on a treadmill and cycle ergometer in elite-level, youth competitive athletes. Thirty-one athletes (11 distance runners, 11 mountain-bike cyclists, and 9 long-distance swimmers) were randomly selected to complete either a running or cycling GXT on the first day, followed by the alternative 72 hours apart. The initial work rate for each GXT was set at 50% of the individuals' previously established V̇ o2 peak to elicit fatigue within 8-12 minutes. For the treadmill protocol, speed was increased by 1 km·h -1 each minute, with a constant 5% grade, until volitional fatigue. Cycle ergometer work rate was increased by 30 W every minute until volitional fatigue or the inability to maintain proper cadence (i.e., 100 ± 5 rev·min -1 ). Throughout both testing sessions, V̇ o2 peak, heart rate [HR] peak, breathing frequency (BF), tidal volume (V T ), and minute ventilation (V E ) were assessed and used to compare within-sport differences. Runners displayed a higher V̇ o2 peak (∼7%; d = 0.92), HRpeak (4%; d = 0.77), V E (6%; d = 0.66), and BF (12%; d = 0.62) on the treadmill vs. cycle. However, the cycling group demonstrated a greater V̇ o2 peak (∼8%; d = 0.92), V T (∼14%; d = 0.99), and V E (∼9%; d = 0.78) on the cycle, despite no change in HRpeak. For swimmers, the treadmill GXT elicited higher values in V̇ o2 peak (∼5%; d = 0.75), BF (∼11.5%; d = 0.78), and HRpeak (3%; d = 0.69). Collectively, these findings indicate that exercise mode may greatly affect physiological outcome variables and should be considered before exercise prescription and athletic monitoring.
- MeSH
- Running * physiology MeSH
- Bicycling physiology MeSH
- Humans MeSH
- Adolescent MeSH
- Oxygen Consumption physiology MeSH
- Heart Rate physiology MeSH
- Fatigue MeSH
- Exercise Test * methods MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Publication type
- Journal Article MeSH
This study aimed to compare impact loading between two age groups of preschool children (3-4 and 5-6 years old) and one group of young adults representing mature level of running skill (n = 15 per group). Three-dimensional biomechanical data were collected during running barefoot, in minimalist and running shoes. A two-way mixed ANOVA was performed to assess age and footwear differences in vertical instantaneous loading rate (VILR). An interaction was found in VILR. Older (5-6) preschoolers had 30-31% lower VILR than younger (3-4) (p = 0.012, d = 1.02; p = 0.001, d = 1.18) and adults had 51-77% lower VILR than younger preschoolers (p = 0.001, d = 1.85; p = 0.001, d = 2.82) in minimalist and running shoes, respectively. Additionally, adults had lower VILR than older preschoolers in running shoes (p = 0.001, d = 2.68). No differences were found between older children and adults in barefoot and minimalist shoes. Loading decreased with increasing age, particularly in minimalist and running shoes. Unchanged cadence and running speed did not explain the decrease of VILR during preschool age. The explanation likely underlies in lower limb alignment during footstrike and developmental ontogenetic changes.
- MeSH
- Running * MeSH
- Biomechanical Phenomena MeSH
- Child MeSH
- Lower Extremity MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Foot * MeSH
- Shoes MeSH
- Child, Preschool MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
This study investigated changes of gait pattern induced by a 4-week robot-assisted gait training (RAGT) in twelve ambulatory spastic diparesis children with cerebral palsy (CP) aged 10.4+/-3.2 years old by using computerized gait analysis (CGA). Pre-post intervention CGA data of children with CP was contrasted to the normative data of typically developing children by using cross-correlation and statistically evaluated by a Wilcoxon test. Significant pre-post intervention changes (p<0.01) include: decreased muscle activity of biceps femoris, rectus femoris, and tibialis anterior; a decrease in range of internal hip joint rotation, higher cadence, step length, and increased stride time. This study suggests that RAGT can be used in muscle reeducation and improved hip joint motion range in ambulatory children with CP.
- MeSH
- Gait Analysis MeSH
- Biomechanical Phenomena MeSH
- Time Factors MeSH
- Gait * MeSH
- Child MeSH
- Lower Extremity innervation MeSH
- Humans MeSH
- Adolescent MeSH
- Cerebral Palsy diagnosis physiopathology rehabilitation MeSH
- Recovery of Function MeSH
- Child, Preschool MeSH
- Robotics instrumentation MeSH
- Range of Motion, Articular MeSH
- Muscle Strength MeSH
- Physical Therapy Modalities instrumentation MeSH
- Age Factors MeSH
- Treatment Outcome MeSH
- Weight-Bearing MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Geographicals
- Czech Republic MeSH
- Slovenia MeSH
Impaired gait is one of the cardinal symptoms of degenerative cervical myelopathy (DCM) and frequently its initial presentation. Quantitative gait analysis is therefore a promising objective tool in the disclosure of early cervical cord impairment in patients with degenerative cervical compression. The aim of this cross-sectional observational cohort study was to verify whether an objective and easily-used walk and run test is capable of detecting early gait impairment in a practical proportion of non-myelopathic degenerative cervical cord compression (NMDCC) patients and of revealing any correlation with severity of disability in DCM. The study group consisted of 45 DCM patients (median age 58 years), 126 NMDCC subjects (59 years), and 100 healthy controls (HC) (55.5 years), all of whom performed a standardized 10-m walk and run test. Walking/running time/velocity, number of steps and cadence of walking/running were recorded; analysis disclosed abnormalities in 66.7% of NMDCC subjects. The DCM group exhibited significantly more pronounced abnormalities in all walk/run parameters when compared with the NMDCC group. These were apparent in 84.4% of the DCM group and correlated closely with disability as quantified by the modified Japanese Orthopaedic Association scale. A standardized 10-m walk/run test has the capacity to disclose locomotion abnormalities in NMDCC subjects who lack other clear myelopathic signs and may provide a means of classifying DCM patients according to their degree of disability.
- Publication type
- Journal Article MeSH