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1.
Gait Posture ; 113: 158-166, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38905850

ABSTRACT

INTRODUCTION: Femoral deformities are highly prevalent in children with cerebral palsy (CP) and can have a severe impact on patients' gait abilities. While the mechanical stress regime within the distal femoral growth plate remains underexplored, understanding it is crucial given bone's adaptive response to mechanical stimuli. We quantified stresses at the distal femoral growth plate to deepen our understanding of the relationship between healthy and pathological gait patterns, internal loading, and femoral growth patterns. METHODS: This study included three-dimensional motion capture data and magnetic resonance images of 13 typically developing children and twelve participants with cerebral palsy. Employing a multi-scale mechanobiological approach, integrating musculoskeletal simulations and subject-specific finite element analysis, we investigated the orientation of the distal femoral growth plate and the stresses within it. Limbs of participants with CP were grouped depending on their knee flexion kinematics during stance phase as this potentially changes the stresses induced by knee and patellofemoral joint contact forces. RESULTS: Despite similar growth plate orientation across groups, significant differences were observed in the shape and distribution of growth values. Higher growth rates were noted in the anterior compartment in CP limbs with high knee flexion while CP limbs with normal knee flexion showed high similarity to the group of healthy participants. DISCUSSION: Results indicate that the knee flexion angle during the stance phase is of high relevance for typical bone growth at the distal femur. The evaluated growth rates reveal plausible results, as long-term promoted growth in the anterior compartment leads to anterior bending of the femur which was confirmed for the group with high knee flexion through analyses of the femoral geometry. The framework for these multi-scale simulations has been made accessible on GitHub, empowering peers to conduct similar mechanobiological studies. Advancing our understanding of femoral bone development could ultimately support clinical decision-making.

2.
J Clin Med ; 13(10)2024 May 08.
Article in English | MEDLINE | ID: mdl-38792301

ABSTRACT

Background: Internal rotation contractures of the shoulder are common sequelae of conservatively treated obstetric brachial plexus palsy (OBPP) with incomplete spontaneous neurological recovery. Humerus derotation osteotomy has been suggested as a possible treatment option to improve arm positioning. However, consensus as to whether humerus derotation osteotomy can successfully restore limb function is missing. Methods: In the present controlled cohort study, we aimed at analyzing global upper extremity kinematics with a 3D-video analysis system in children with shoulder internal rotation contractures secondary to OBPP before, and one year after, humerus derotation osteotomy. Patients under 18 years of age that presented to our center with conservatively treated internal rotation contractures of the shoulder and subsequently underwent humerus derotation osteotomy were included. The unimpaired arm served as a respective control. Results: Pre-operatively, all patients showed severe internal rotation contractures of the shoulder of almost 60° at rest. At the follow-up, the position of the shoulder at rest was greatly shifted to 9° of internal rotation. The patients showed statistically significant improvement in maximum external rotation and abduction of the shoulder, as well as in maximum flexion of the elbow, and the range of motion of pro/supination. The maximum internal rotation of the shoulder, however, was diminished after the osteotomy. Conclusions: Our data indicated that derotational osteotomy is a promising procedure which can be used to correct for internal rotation contractures secondary to OBPP. Moreover, 3D-video analysis proved to be a useful tool that supplies the surgeon with both precise information about the degree of distortion pre-operatively, thus helping to decide on the amount of correction, and secondly, a measurement of the post-operative gain in upper extremity function.

3.
Sensors (Basel) ; 24(10)2024 May 13.
Article in English | MEDLINE | ID: mdl-38793945

ABSTRACT

The progress in markerless technologies is providing clinicians with tools to shorten the time of assessment rapidly, but raises questions about the potential trade-off in accuracy compared to traditional marker-based systems. This study evaluated the OpenCap system against a traditional marker-based system-Vicon. Our focus was on its performance in capturing walking both toward and away from two iPhone cameras in the same setting, which allowed capturing the Timed Up and Go (TUG) test. The performance of the OpenCap system was compared to that of a standard marker-based system by comparing spatial-temporal and kinematic parameters in 10 participants. The study focused on identifying potential discrepancies in accuracy and comparing results using correlation analysis. Case examples further explored our results. The OpenCap system demonstrated good accuracy in spatial-temporal parameters but faced challenges in accurately capturing kinematic parameters, especially in the walking direction facing away from the cameras. Notably, the two walking directions observed significant differences in pelvic obliquity, hip abduction, and ankle flexion. Our findings suggest areas for improvement in markerless technologies, highlighting their potential in clinical settings.


Subject(s)
Gait Analysis , Gait , Smartphone , Walking , Humans , Pilot Projects , Gait Analysis/methods , Gait Analysis/instrumentation , Male , Biomechanical Phenomena/physiology , Female , Gait/physiology , Walking/physiology , Adult
4.
Clin Biomech (Bristol, Avon) ; 115: 106254, 2024 May.
Article in English | MEDLINE | ID: mdl-38669918

ABSTRACT

BACKGROUND: This study investigated the most accurate method for estimating the hip joint center position in clinical 3D gait analysis for young individuals with high amounts of soft tissue. We compared position estimates of five regression-based and two functional methods to the hip joint center position obtained through 3D free-hand ultrasound. METHODS: For this purpose, the data of 14 overweight or obese individuals with a mean age of 13.6 (SD 2.1 yrs) and a BMI of 36.5 (SD 7.1 kg/m2, range 26-52 kg/m2) who underwent standard clinical 3D gait analysis were used. The data of each participant were processed with five regression-based and two functional methods and compared to the hip joint center identified via 3D free-hand ultrasound. FINDINGS: The absolute location errors to 3D free-hand ultrasound for each anatomical plane and the Euclidean distances served as outcomes next to their effects on gait variables. The data suggest that regression-based methods are preferable to functional methods in this population, as the latter demonstrated the highest variability in accuracy with large errors for some individuals. INTERPRETATION: Based on our findings we recommend using the regression method presented by Hara et al. due to its superior overall accuracy of <9 mm on average in all planes and the lowest impact on kinematic and kinetic output variables. We do not recommend using the Harrington equations (single and multiple) in populations with high amounts of soft tissue as they require pelvic depth as input, which can be massively biased when a lot of soft tissue is present around the pelvis.


Subject(s)
Gait , Hip Joint , Imaging, Three-Dimensional , Ultrasonography , Humans , Hip Joint/diagnostic imaging , Female , Male , Ultrasonography/methods , Gait/physiology , Adolescent , Imaging, Three-Dimensional/methods , Gait Analysis/methods , Child , Obesity/physiopathology , Reproducibility of Results , Biomechanical Phenomena
5.
Gait Posture ; 111: 65-74, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38653178

ABSTRACT

BACKGROUND: Clinical gait analysis (CGA) is a systematic approach to comprehensively evaluate gait patterns, quantify impairments, plan targeted interventions, and evaluate the impact of interventions. However, international standards for CGA are currently lacking, resulting in various national initiatives. Standards are important to ensure safe and effective healthcare practices and to enable evidence-based clinical decision-making, facilitating interoperability, and reimbursement under national healthcare policies. Collaborative clinical and research work between European countries would benefit from common standards. RESEARCH OBJECTIVE: This study aimed to review the current laboratory practices for CGA in Europe. METHODS: A comprehensive survey was conducted by the European Society for Movement Analysis in Adults and Children (ESMAC), in close collaboration with the European national societies. The survey involved 97 gait laboratories across 16 countries. The survey assessed several aspects related to CGA, including equipment used, data collection, processing, and reporting methods. RESULTS: There was a consensus between laboratories concerning the data collected during CGA. The Conventional Gait Model (CGM) was the most used biomechanical model for calculating kinematics and kinetics. Respondents also reported the use of video recording, 3D motion capture systems, force plates, and surface electromyography. While there was a consensus on the reporting of CGA data, variations were reported in training, documentation, data preprocessing and equipment maintenance practices. SIGNIFICANCE: The findings of this study will serve as a foundation for the development of standardized guidelines for CGA in Europe.


Subject(s)
Gait Analysis , Humans , Europe , Surveys and Questionnaires , Societies, Medical , Biomechanical Phenomena , Child , Adult , Electromyography
6.
Sci Rep ; 14(1): 3567, 2024 02 12.
Article in English | MEDLINE | ID: mdl-38347085

ABSTRACT

Excessive loads at lower limb joints can lead to pain and degenerative diseases. Altering joint loads with muscle coordination retraining might help to treat or prevent clinical symptoms in a non-invasive way. Knowing how much muscle coordination retraining can reduce joint loads and which muscles have the biggest impact on joint loads is crucial for personalized gait retraining. We introduced a simulation framework to quantify the potential of muscle coordination retraining to reduce joint loads for an individuum. Furthermore, the proposed framework enables to pinpoint muscles, which alterations have the highest likelihood to reduce joint loads. Simulations were performed based on three-dimensional motion capture data of five healthy adolescents (femoral torsion 10°-29°, tibial torsion 19°-38°) and five patients with idiopathic torsional deformities at the femur and/or tibia (femoral torsion 18°-52°, tibial torsion 3°-50°). For each participant, a musculoskeletal model was modified to match the femoral and tibial geometry obtained from magnetic resonance images. Each participant's model and the corresponding motion capture data were used as input for a Monte Carlo analysis to investigate how different muscle coordination strategies influence joint loads. OpenSim was used to run 10,000 simulations for each participant. Root-mean-square of muscle forces and peak joint contact forces were compared between simulations. Depending on the participant, altering muscle coordination led to a maximum reduction in hip, knee, patellofemoral and ankle joint loads between 5 and 18%, 4% and 45%, 16% and 36%, and 2% and 6%, respectively. In some but not all participants reducing joint loads at one joint increased joint loads at other joints. The required alteration in muscle forces to achieve a reduction in joint loads showed a large variability between participants. The potential of muscle coordination retraining to reduce joint loads depends on the person's musculoskeletal geometry and gait pattern and therefore showed a large variability between participants, which highlights the usefulness and importance of the proposed framework to personalize gait retraining.


Subject(s)
Gait , Muscles , Adolescent , Humans , Monte Carlo Method , Gait/physiology , Femur/physiology , Tibia/physiology , Knee Joint/physiology , Biomechanical Phenomena , Muscle, Skeletal/physiology
7.
PLoS One ; 18(10): e0291458, 2023.
Article in English | MEDLINE | ID: mdl-37824447

ABSTRACT

Femoral deformities, e.g. increased or decreased femoral anteversion (AVA) and neck-shaft angle (NSA), can lead to pathological gait patterns, altered joint loads, and degenerative joint diseases. The mechanism how femoral geometry influences muscle forces and joint load during walking is still not fully understood. The objective of our study was to investigate the influence of femoral AVA and NSA on muscle forces and joint loads during walking. We conducted a comprehensive musculoskeletal modelling study based on three-dimensional motion capture data of a healthy person with a typical gait pattern. We created 25 musculoskeletal models with a variety of NSA (93°-153°) and AVA (-12°-48°). For each model we calculated moment arms, muscle forces, muscle moments, co-contraction indices and joint loads using OpenSim. Multiple regression analyses were used to predict muscle activations, muscle moments, co-contraction indices, and joint contact forces based on the femoral geometry. We found a significant increase in co-contraction of hip and knee joint spanning muscles in models with increasing AVA and NSA, which led to a substantial increase in hip and knee joint contact forces. Decreased AVA and NSA had a minor impact on muscle and joint contact forces. Large AVA lead to increases in both knee and hip contact forces. Large NSA (153°) combined with large AVA (48°) led to increases in hip joint contact forces by five times body weight. Low NSA (108° and 93°) combined with large AVA (48°) led to two-fold increases in the second peak of the knee contact forces. Increased joint contact forces in models with increased AVA and NSA were linked to changes in hip muscle moment arms and compensatory increases in hip and knee muscle forces. Knowing the influence of femoral geometry on muscle forces and joint loads can help clinicians to improve treatment strategies in patients with femoral deformities.


Subject(s)
Femur , Walking , Humans , Biomechanical Phenomena , Walking/physiology , Femur/diagnostic imaging , Femur/physiology , Gait/physiology , Muscle, Skeletal/physiology , Hip Joint/diagnostic imaging , Hip Joint/physiology
8.
PLoS One ; 18(8): e0288555, 2023.
Article in English | MEDLINE | ID: mdl-37566568

ABSTRACT

The correct estimation of gait events is essential for the interpretation and calculation of 3D gait analysis (3DGA) data. Depending on the severity of the underlying pathology and the availability of force plates, gait events can be set either manually by trained clinicians or detected by automated event detection algorithms. The downside of manually estimated events is the tedious and time-intensive work which leads to subjective assessments. For automated event detection algorithms, the drawback is, that there is no standardized method available. Algorithms show varying robustness and accuracy on different pathologies and are often dependent on setup or pathology-specific thresholds. In this paper, we aim at closing this gap by introducing a novel deep learning-based gait event detection algorithm called IntellEvent, which shows to be accurate and robust across multiple pathologies. For this study, we utilized a retrospective clinical 3DGA dataset of 1211 patients with four different pathologies (malrotation deformities of the lower limbs, club foot, infantile cerebral palsy (ICP), and ICP with only drop foot characteristics) and 61 healthy controls. We propose a recurrent neural network architecture based on long-short term memory (LSTM) and trained it with 3D position and velocity information to predict initial contact (IC) and foot off (FO) events. We compared IntellEvent to a state-of-the-art heuristic approach and a machine learning method called DeepEvent. IntellEvent outperforms both methods and detects IC events on average within 5.4 ms and FO events within 11.3 ms with a detection rate of ≥ 99% and ≥ 95%, respectively. Our investigation on generalizability across laboratories suggests that models trained on data from a different laboratory need to be applied with care due to setup variations or differences in capturing frequencies.


Subject(s)
Cerebral Palsy , Deep Learning , Humans , Retrospective Studies , Biomechanical Phenomena , Gait , Algorithms
9.
Front Endocrinol (Lausanne) ; 14: 1111104, 2023.
Article in English | MEDLINE | ID: mdl-37033213

ABSTRACT

Background: X-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLH-specific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking. Patients and methods: In this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study. Results: A total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p < 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p < 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p < 0.05). Conclusions: This study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power.


Subject(s)
Familial Hypophosphatemic Rickets , Osteoarthritis , Humans , Adolescent , Young Adult , Adult , Middle Aged , Ankle Joint/diagnostic imaging , Ankle , Quality of Life , Cross-Sectional Studies , Lower Extremity , Osteoarthritis/diagnostic imaging
10.
Front Endocrinol (Lausanne) ; 13: 866170, 2022.
Article in English | MEDLINE | ID: mdl-35399930

ABSTRACT

Background: Gait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis. While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. FGF23-inhibiting antibody treatment can normalize serum phosphate levels and to improve rickets in XLH patients. However, linear growth remains impaired and effects on lower limb deformity and gait are insufficiently studied. Aims: To characterize and evaluate the course of lower limb deformity in a case series of pediatric XLH patients receiving Burosumab therapy. Methods: Comparative assessment of planar radiographs, gait analysis, biochemical and clinical features of pediatric patients before and ≥12 months after initiation of FGF23-inhibiting was performed prospectively. Lower limb maltorsion was quantified by torsional MRI and gait analysis. Standardized deformity analysis of lower limb anteroposterior radiographs was conducted. Results: Seven patients (age 9.0 +/-3.6 years) were eligible for this study. All patients received conventional treatment before onset of antibody treatment. Maltorsion of the femur was observed in 8/14 legs using torsional MRI (mean antetorsion 8.79°). Maltorsion of the tibia was observed in 9/14 legs (mean external torsion 2.8°). Gait analysis confirmed MRI findings with femoral external malrotation prior to and one year after onset of Burosumab therapy. Internal foot progression (intoeing gait) remained pathological in all cases (mean 2.2°). Knee rotation was pathologically internal 10/14 legs. Mean mechanical axis deviation (MAD) of 16.1mm prior to Burosumab changed in average by 3.9mm. Three children underwent guided growth procedures within the observation period. Mild postprocedural rebound of frontal axis deviation was observed under Burosumab treatment in one patient. Conclusions: This is the first study to investigate lower limb deformity parameters quantitatively in children with XLH receiving Burosumab. One year of Burosumab therapy was associated with persistent maltorsion and frontal axis deviation (varus/valgus) despite improved rickets in this small, prospective uncontrolled study.


Subject(s)
Familial Hypophosphatemic Rickets , Lower Extremity , Child , Familial Hypophosphatemic Rickets/complications , Familial Hypophosphatemic Rickets/drug therapy , Fibroblast Growth Factors , Humans , Lower Extremity/pathology , Phosphates , Prospective Studies
11.
Gait Posture ; 93: 135-141, 2022 03.
Article in English | MEDLINE | ID: mdl-35149243

ABSTRACT

BACKGROUND: An exact definition is lacking for the term "weight-bearing" or different standing modalities when implementing foot radiographs for children and adults; moreover, only few studies have investigated the relationship between radiographic and pedobarographic measurements. RESEARCH QUESTION: We hypothesized that the method of weight-bearing in single-leg and both-leg standing positions could influence the measurement results in radiographs and the distribution of foot pressure. METHODS: This prospective study evaluated 33 children (66 feet) with flexible flatfoot deformities scheduled for subtalar screw arthroereisis surgery. Radiographs in the lateral and anteroposterior (AP) views were assessed independently in the single-leg and both-leg standing positions. Static pedobarography was performed as that for measuring weight-bearing. Standardized radiographic angles and pedobarographic data were analysed and correlated. RESULTS: There were differences in radiographic measurements between the single-leg and both-leg standing positions, including the AP talocalcaneal angle (p = 0.032), AP talus-first metatarsal base angle (p = 0.003), AP talus-first metatarsal angle (p = 0.003), lateral calcaneal pitch angle (p = 0.001), talus-first metatarsal index (p = 0.004), and talocalcaneal index (p = 0.029). Moreover, differences between these two standing modalities were found in most of the static pedobarographic data, including the contact area (p = 0001), maximal force (p = 0.001), and peak pressure (p = 0.007). Overall, medial foot pressure increased more in both-leg standing than in the single-leg standing position, whereas radiographic measurements showed a more pronounced flatfoot deformity in the single-leg standing position. The AP talus-first metatarsal angle was the only angle or index with a significant association to some pedobarographic measurements in both standing modalities. SIGNIFICANCE: As there are significant differences between single-leg standing and both-leg standing radiographic and static pedobarographic values, observers have to be precise in the definition of "weight-bearing" to gain reproducible and comparable study values in children and adults. We recommend acquiring both-leg standing foot radiographs because children with flexible flatfeet can stand more steadily in this position than in the single-leg standing position.


Subject(s)
Flatfoot , Adult , Child , Flatfoot/diagnostic imaging , Flatfoot/surgery , Humans , Leg , Prospective Studies , Standing Position , Weight-Bearing
12.
Foot Ankle Int ; 43(2): 153-163, 2022 02.
Article in English | MEDLINE | ID: mdl-34404241

ABSTRACT

BACKGROUND: The minimally invasive distal metatarsal metaphyseal osteotomy (DMMO) is a percutaneous operative technique with the aim to relieve the symptoms of metatarsalgia. To our knowledge, no previous research has analyzed both pre- and postoperative pedobarographic data including the changes in plantar pressure. METHODS: Thirty patients (31 feet) were operated on with a DMMO and included in a prospective study. Clinical, radiologic, and pedobarographic outcomes were evaluated in comparison with the preoperative parameters. The American Orthopaedic Foot & Ankle Society (AOFAS) forefoot score, the Foot Function Index (FFI), the Foot and Ankle Outcome Score (FAOS), and a visual analog scale (VAS) for pain were used in order to assess clinical parameters. Radiographs were taken to compare metatarsal lengths. The pedobarographic analysis served to determine plantar peak pressure (PPP) beneath the metatarsophalangeal (MTP) joints. RESULTS: All scores indicated a significant mean pre- to postoperative improvement (AOFAS = 31.9 points, FAOS = 16.3%, FFI = 24.3%, VAS pain = 4.1 points, VAS general limitation = 3.3 points) (P < .05). PPP was substantially reduced in the relevant area (M6 [plantar area beneath the second and third MTP joint] had a mean pre to post PPP = 14.15 N/cm2) and concurrently higher in the lateral and medial MTP joint areas (M5 mean pre to post = +14.37, M7 pre to post = +7.11). Our mean metatarsal shortening was 6.6 mm. However, our findings do not demonstrate a significant correlation between metatarsal length relationships and the prevalence of metatarsalgia. CONCLUSION: Our results demonstrate a significant improvement in clinical scores and PPP. A statistically significant relation between metatarsal length and the prevalence of metatarsalgia was not found in this prospective case series. LEVEL OF EVIDENCE: Level IV, case series.


Subject(s)
Metatarsal Bones , Metatarsalgia , Metatarsophalangeal Joint , Humans , Metatarsal Bones/diagnostic imaging , Metatarsal Bones/surgery , Metatarsalgia/surgery , Metatarsophalangeal Joint/diagnostic imaging , Metatarsophalangeal Joint/surgery , Minimally Invasive Surgical Procedures/methods , Osteotomy/methods , Prospective Studies , Toes/surgery , Treatment Outcome
13.
Genes (Basel) ; 12(11)2021 10 20.
Article in English | MEDLINE | ID: mdl-34828254

ABSTRACT

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.


Subject(s)
Abnormalities, Multiple/genetics , Cerebellum/abnormalities , Ciliopathies/genetics , Cytoskeletal Proteins/genetics , Eye Abnormalities/genetics , Kidney Diseases, Cystic/genetics , Nervous System Malformations/genetics , Retina/abnormalities , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Ciliopathies/diagnosis , Consanguinity , Duane Retraction Syndrome/complications , Duane Retraction Syndrome/diagnosis , Duane Retraction Syndrome/genetics , Eye Abnormalities/complications , Female , Humans , Kidney Diseases, Cystic/complications , Male , Nervous System Malformations/complications , Nervous System Malformations/diagnosis , Phenotype , Saudi Arabia , Siblings , Young Adult
14.
Front Endocrinol (Lausanne) ; 12: 754084, 2021.
Article in English | MEDLINE | ID: mdl-34646241

ABSTRACT

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH. Design: Data on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults. Patients and Controls: Radiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76). Results: Patients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI. Conclusions: This study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.


Subject(s)
Familial Hypophosphatemic Rickets/physiopathology , Gait , Lower Extremity/physiopathology , Adolescent , Adult , Aged , Familial Hypophosphatemic Rickets/diagnostic imaging , Familial Hypophosphatemic Rickets/pathology , Familial Hypophosphatemic Rickets/surgery , Female , Humans , Lower Extremity/diagnostic imaging , Lower Extremity/pathology , Male , Middle Aged , Radiography , Retrospective Studies , Young Adult
15.
Sci Rep ; 11(1): 10650, 2021 05 20.
Article in English | MEDLINE | ID: mdl-34017023

ABSTRACT

3D free-hand ultrasound (3DFUS) is becoming increasingly popular to assist clinical gait analysis because it is cost- and time-efficient and does not expose participants to radiation. The aim of this study was to evaluate its reliability in localizing the anterior superior iliac spine (ASIS) at the pelvis and the hip joint centers (HJC). Additionally, we evaluated its accuracy to get a rough estimation of the potential to use of 3DFUS to segment bony surface. This could offer potential to register medical images to motion capture data in future. To evaluate reliability, a test-retest study was conducted in 16 lean and 19 obese individuals. The locations of the ASIS were determined by manual marker placement (MMP), an instrumented pointer technique (IPT), and with 3DFUS. The HJC location was also determined with 3DFUS. To quantify reliability, intraclass correlation coefficients (ICCs), the standard error of measurement (SEm), among other statistical parameters, were calculated for the identified locations between the test and retest. To assess accuracy, the surface of a human plastic pelvic phantom was segmented with 3DFUS in a distilled water bath in 27 trials and compared to a 3D laser scan of the pelvis. Regarding reliability, the MMP, but especially the IPT showed high reliability in lean (SEm: 2-3 mm) and reduced reliability in obese individuals (SEm: 6-15 mm). Compared to MMP and IPT, 3DFUS presented lower reliability in the lean group (SEm: 2-4 mm vs. 2-8 mm, respectively) but slightly better values in the obese group (SEm: 7-11 mm vs. 6-16 mm, respectively). Correlations between test-retest reliability and torso body fat mass (% of body mass) indicated a moderate to strong relationship for MMP and IPT but only a weak correlation for the 3DFUS approach. The water-bath experiments indicated an acceptable level of 3.5 (1.7) mm of accuracy for 3DFUS in segmenting bone surface. Despite some difficulties with single trials, our data give further rise to the idea that 3DFUS could serve as a promising tool in future to inform marker placement and hip joint center location, especially in groups with higher amount of body fat.


Subject(s)
Anatomic Landmarks , Hip Joint/diagnostic imaging , Imaging, Three-Dimensional , Obesity/diagnostic imaging , Pelvis/diagnostic imaging , Thinness/diagnostic imaging , Ultrasonography , Adolescent , Child , Female , Humans , Male , Reproducibility of Results
16.
Bone Joint J ; 103-B(2): 415-420, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33517731

ABSTRACT

AIMS: The aims of this study is to report the clinical and radiological outcomes after pre-, central-, and postaxial polydactyly resection in children from a tertiary referral centre. METHODS: All children who underwent resection of a supernumerary toe between 2001 and 2013 were prospectively enrolled and invited for a single re-assessment. Clinical parameters and several dedicated outcome scores (visual analogue scale (VAS), Paediatric Outcomes Data Collection Instrument (PODCI), Activities Scale for Kids (ASK), and American Orthopaedic Foot and Ankle Society Score (AOFAS)) were obtained, as were radiographs of the operated and non-operated feet along with pedobarographs. RESULTS: In all, 39 children (52 feet) with a mean follow-up of 7.2 years (3.1 to 13.0) were included in the study. Resection of a duplicated great toe was performed in ten children, central polydactyly in four, and postaxial polydactyly in 26. The mean postoperative VAS (0.7; 0 to 7), ASK (93.7; 64.2 to 100), and AOFAS range (85.9 to 89.0) indicated excellent outcomes among this cohort and the PODCI global functioning scale (95.7; 75.5 to 100) was satisfactory. No significant differences were found regarding outcomes of pre- versus postaxial patients, nor radiological toe alignment between the operated and non-operated sides. Minor complications were observed in six children (15%). There were seven surgical revisions (18%), six of whom were in preaxial patients. In both groups, below the operation area, a reduced mean and maximum force was observed. Changes in the hindfoot region were detected based on the prolonged contact time and reduced force in the preaxial group. CONCLUSION: Excellent mid-term results can be expected after foot polydactyly resection in childhood. However, parents and those who care for these children need to be counselled regarding the higher risk of subsequent revision surgery in the preaxial patients. Also, within the study period, the plantar pressure distribution below the operated part of the foot did not return to completely normal. Cite this article: Bone Joint J 2021;103-B(2):415-420.


Subject(s)
Foot/physiopathology , Orthopedic Procedures , Polydactyly/physiopathology , Polydactyly/surgery , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Foot/surgery , Humans , Infant , Male , Polydactyly/diagnosis , Retrospective Studies , Treatment Outcome
17.
Comput Methods Biomech Biomed Engin ; 24(4): 349-357, 2021 Mar.
Article in English | MEDLINE | ID: mdl-32940060

ABSTRACT

The aim of this study was to develop a generic musculoskeletal model of a healthy 10-year-old child and examine the effects of geometric scaling on the calculated values of lower-limb muscle forces during gait. Subject-specific musculoskeletal models of five healthy children were developed from in vivo MRI data, and these models were subsequently used to create a generic juvenile (GJ) model. Calculations of lower-limb muscle forces for normal walking obtained from two scaled-generic versions of the juvenile model (SGJ1 and SGJ2) were evaluated against corresponding results derived from an MRI-based model of one subject (SSJ1). The SGJ1 and SGJ2 models were created by scaling the GJ model using gait marker positions and joint centre locations derived from MRI imaging, respectively. Differences in the calculated values of peak isometric muscle forces and muscle moment arms between the scaled-generic models and MRI-based model were relatively small. Peak isometric muscle forces calculated for SGJ1 and SGJ2 were respectively 2.2% and 3.5% lower than those obtained for SSJ1. Model-predicted muscle forces for SGJ2 agreed more closely with calculations obtained from SSJ1 than corresponding results derived from SGJ1. These results suggest that accurate estimates of muscle forces during gait may be obtained by scaling generic juvenile models based on joint centre locations. The generic juvenile model developed in this study may be used as a template for creating subject-specific musculoskeletal models of normally-developing children in studies aimed at describing lower-limb muscle function during gait.


Subject(s)
Gait/physiology , Lower Extremity/physiology , Models, Biological , Muscle, Skeletal/physiology , Biomechanical Phenomena/physiology , Body Weight/physiology , Child , Female , Humans , Isometric Contraction/physiology , Magnetic Resonance Imaging , Male , Muscle, Skeletal/diagnostic imaging
18.
Gait Posture ; 83: 96-99, 2021 01.
Article in English | MEDLINE | ID: mdl-33129173

ABSTRACT

BACKGROUND: Recently, the successor of the Conventional Gait Model, the CGM2 was introduced. Even though achievable reliability of gait kinematics is a well-assessed topic in gait analysis for several models, information about reliability in difficult study samples with high amount of subcutaneous fat is scarce and to date, not available for the CGM2. Therefore, this study evaluated the test-retest reliability of the CGM2 model for difficult data with high amount of soft tissue artifacts. RESEARCH QUESTION: What is the test-retest reliability of the CGM2 during level walking and stair climbing in a young obese population? Is there a clinically relevant difference in reliability between a standard direct kinematic model and the CGM2? METHODS: A retrospective test-retest dataset from eight male and two female volunteers was used. It comprised standard 3D gait analysis data of three walking conditions: level walking, stair ascent and descent. To quantify test-retest reliability the Standard Error of Measurement (SEM) was calculated for each kinematic waveform for a direct kinematic model (Cleveland clinic marker set) and the CGM2. RESULTS: Both models showed an acceptable level of test-retest reliability in all three walking conditions. However, SEM ranged between two and five degrees (∘) for both models and, thus, needs consideration during interpretation. The choice of model did not affect reliability considerably. Differences in SEM between stair climbing and level walking were small and not clinically relevant (<1°). SIGNIFICANCE: Results showed an acceptable level of reliability and only small differences between the models. It is noteworthy, that the SEM was increased during the first half of swing in all walking conditions. This might be attributed to increased variability resulting for example from inaccurate knee and ankle axis definitions or increased variability in the gait pattern and needs to be considered during data interpretation.


Subject(s)
Biomechanical Phenomena/physiology , Obesity/complications , Stair Climbing/physiology , Walking/physiology , Carcinoembryonic Antigen , Female , GPI-Linked Proteins , Humans , Male , Obesity/physiopathology , Reproducibility of Results , Retrospective Studies
19.
Gait Posture ; 81: 78-84, 2020 09.
Article in English | MEDLINE | ID: mdl-32688230

ABSTRACT

BACKGROUND: X-linked hypophosphatemia (XLH) represents the most common genetic form of rickets featuring profound hypophosphatemia with associated skeletal and non-skeletal manifestations. Early onset gait disturbances contribute strongly to the burden of disease. However, no study has comprehensively characterized naturally occurring gait deviations in pediatric patients with XLH. RESEARCH QUESTIONS: Can disease-specific gait deviations and potentially influencing factors be identified by gait analysis in non-surgically treated children with XLH? METHODS: Gait laboratory assessments of 12 pediatric patients with XLH without previous long bone surgery was retrospectively analyzed and compared to age-matched healthy controls. Radiologic and clinical parameters of XLH patients were correlated with kinematic gait variables and gait scores. RESULTS: Reduced external knee rotation and increased external hip orientation was ubiquitous in children with XLH. Increased lateral trunk lean, or "waddling gait", occurred in five children and was associated with varus knee deformities. Overall, children with XLH showed a reduced Gait Deviation Index (GDI) compared to controls. Radiologic and gait analysis revealed complex combined frontal and torsional deformity of the lower limbs as a common feature in XLH. Higher Body Mass Index (BMI) was associated with both lateral trunk lean and impaired GDI. SIGNIFICANCE: Gait analysis is feasible to quantify gait deviations and lower limb deformities in pediatric patients with XLH. Specific gait characteristics including internal knee rotation and external hip rotation are common among patients with XLH and contribute to impaired gait scores. Our data suggest the use of gait and deformity data assessment as outcome parameters in future observational and interventional studies. Standardized assessment might contribute to targeted treatments to improve life quality in XLH patients.


Subject(s)
Biomechanical Phenomena/physiology , Familial Hypophosphatemic Rickets/genetics , Gait/physiology , Child , Female , Humans , Male , Retrospective Studies
20.
J Pediatr Orthop ; 40(8): 418-424, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32205682

ABSTRACT

BACKGROUND: We aimed to evaluate the effect of tibialis anterior tendon transfer (TATT) on foot motion in children with clubfoot recurrence after initial Ponseti treatment. METHODS: Children with dynamic clubfoot recurrence after initial Ponseti treatment who underwent TATT between 2014 and 2017 were considered for inclusion. Exclusion criteria were neurological disease, split transfer of the tendon, additional bone or joint invasive surgery, and initial treatment abroad. Of 94 children (143 TATT), 36 met the inclusion criteria. Seventeen (47%) of the 36 children with 25 clubfeet and a mean age at the time of surgery of 6.8 years participated in the study. Gait analysis, including the Oxford foot model, was conducted preoperatively and postoperatively. Furthermore, kinematic and kinetic data were compared with those of age-matched healthy children (n=18). RESULTS: Forefoot supination in relation to the hindfoot and tibia was reduced during swing and at initial contact after TATT compared with preoperative values. Forefoot supination in relation to the tibia at initial contact decreased from 12.4 to 5.2 degrees after TATT (control group, 6.0 degrees). The heel showed less dynamic varus and adduction movement after TATT compared with preoperatively. Maximum ankle power was reduced preoperatively and postoperatively compared with controls. Maximum ankle dorsiflexion slightly increased after TATT. CONCLUSIONS: Gait analysis showed normalization of the main components of dynamic clubfoot recurrence after TATT. This joint-sparing surgery efficiently corrects recurrent dynamic deformity. LEVEL OF EVIDENCE: Level II-therapeutic.


Subject(s)
Clubfoot , Foot Orthoses , Secondary Prevention , Supination/physiology , Tendon Transfer , Biomechanical Phenomena , Child , Child, Preschool , Clubfoot/diagnosis , Clubfoot/surgery , Female , Foot/physiopathology , Gait Analysis , Humans , Male , Outcome Assessment, Health Care/methods , Secondary Prevention/instrumentation , Secondary Prevention/methods , Tendon Transfer/adverse effects , Tendon Transfer/methods
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