Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

BackgroundX-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.DesignData 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 ControlsRadiographic 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).ResultsPatients 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.ConclusionsThis 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.

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Motor disability in patients with multiple sclerosis: transcranial magnetic stimulation study

The Egyptian Journal of Neurology Psychiatry and Neurosurgery ◽

10.1186/s41983-020-00255-3 ◽

2020 ◽

Vol 56 (1) ◽

Author(s):

Anssam Bassem Mohy ◽

Aqeel Kareem Hatem ◽

Hussein Ghani Kadoori ◽

Farqad Bader Hamdan

Keyword(s):

Transcranial Magnetic Stimulation ◽

Lower Limb ◽

Magnetic Stimulation ◽

Motor Evoked Potential ◽

Invasive Procedure ◽

Single Pulse ◽

Lower Limbs ◽

Control Group ◽

Conduction Time ◽

Motor Disability

Abstract Background Transcranial magnetic stimulation (TMS) is a non-invasive procedure used in a small targeted region of the brain via electromagnetic induction and used diagnostically to measure the connection between the central nervous system (CNS) and skeletal muscle to evaluate the damage that occurs in MS. Objectives The study aims to investigate whether single-pulse TMS measures differ between patients with MS and healthy controls and to consider if these measures are associated with clinical disability. Patients and methods Single-pulse TMS was performed in 26 patients with MS who hand an Expanded Disability Status Scale (EDSS) score between 0 and 9.5 and in 26 normal subjects. Different TMS parameters from upper and lower limbs were investigated. Results TMS disclosed no difference in all MEP parameters between the right and left side of the upper and lower limbs in patients with MS and controls. In all patients, TMS parameters were different from the control group. Upper limb central motor conduction time (CMCT) was prolonged in MS patients with pyramidal signs. Upper and lower limb CMCT and CMCT-f wave (CMCT-f) were prolonged in patients with ataxia. Moreover, CMCT and CMCT-f were prolonged in MS patients with EDSS of 5–9.5 as compared to those with a score of 0–4.5. EDSS correlated with upper and lower limb cortical latency (CL), CMCT, and CMCT-f whereas motor evoked potential (MEP) amplitude not. Conclusion TMS yields objective data to evaluate clinical disability and its parameters correlated well with EDSS.

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Deficits in anticipatory inhibition of postural muscle activity associated with load release while standing in individuals with spastic diplegic cerebral palsy

Journal of Neurophysiology ◽

10.1152/jn.00253.2012 ◽

2013 ◽

Vol 109 (8) ◽

pp. 1996-2006 ◽

Cited By ~ 5

Author(s):

Hidehito Tomita ◽

Yoshiki Fukaya ◽

Kenji Totsuka ◽

Yuri Tsukahara

Keyword(s):

Cerebral Palsy ◽

Lower Limb ◽

Muscle Activity ◽

Erector Spinae ◽

Lower Limbs ◽

Control Group ◽

Lower Limb Muscles ◽

Limb Muscles ◽

Postural Muscle ◽

Load Release

This study aimed to determine whether individuals with spastic diplegic cerebral palsy (SDCP) have deficits in anticipatory inhibition of postural muscle activity. Nine individuals with SDCP (SDCP group, 3 female and 6 male, 13–24 yr of age) and nine age- and sex-matched individuals without disability (control group) participated in this study. Participants stood on a force platform, which was used to measure the position of the center of pressure (CoP), while holding a light or heavy load in front of their bodies. They then released the load by abducting both shoulders. Surface electromyograms were recorded from the rectus abdominis, erector spinae (ES), rectus femoris (RF), medial hamstring (MH), tibialis anterior (TA), and gastrocnemius (GcM) muscles. In the control group, anticipatory inhibition before load release and load-related modulation of the inhibition were observed in all the dorsal muscles recorded (ES, MH, and GcM). In the SDCP group, similar results were obtained in the trunk muscle (ES) but not in the lower limb muscles (MH and GcM), although individual differences were seen, especially in MH. Anticipatory activation of the ventral lower limb muscles (RF and TA) and load-related modulation of the activation were observed in both participant groups. CoP path length during load release was longer in the SDCP group than in the control group. The present findings suggest that individuals with SDCP exhibit deficits in anticipatory inhibition of postural muscles at the dorsal part of the lower limbs, which is likely to result in a larger disturbance of postural equilibrium.

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Dysfunctional muscle activities and co-contraction in the lower-limb of lumbar disc herniation patients during walking

Scientific Reports ◽

10.1038/s41598-020-77150-7 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Wei Wang ◽

Hui Wei ◽

Runxiu Shi ◽

Leitong Lin ◽

Lechi Zhang ◽

...

Keyword(s):

Lumbar Disc Herniation ◽

Disc Herniation ◽

Lower Limb ◽

Gait Cycle ◽

Lumbar Disc ◽

Lower Limbs ◽

Heel Strike ◽

Control Group ◽

Double Support ◽

Support Phase

AbstractThis study aimed to investigate lower-limb muscle activities in gait phases and co-contraction of one gait cycle in patients with lumbar disc herniation (LDH). This study enrolled 17 LDH patients and 17 sex- and age-matched healthy individuals. Bilateral muscle activities of the rectus femoris (RF), biceps femoris long head (BL), tibialis anterior (TA), and lateral gastrocnemius (LG) during walking were recorded. The gait cycle was divided into four phases by the heel strike and top off according to the kinematics tracks. Root mean square (RMS), mean frequency (MF), and co-contraction of surface electromyography signals were calculated. The LDH patients showed enhanced BL RMS during the single support phase (SS), second double support phase, and swing phase (SW) as well as decreased MF of RF during SS and of TA and LG during SW (p < 0.05). The co-contraction of the TA-LG was increased in LDH patients than in the control group (p < 0.05). Positive correlations were observed between TA-LG co-contraction (affected side, r = 0.557, p = 0.020; contralateral side, r = 0.627, p = 0.007) and the Oswestry disability index scores in LDH patients. LDH patients have increased BL firing rate and insufficient motor unit recruitment in specific phases in the lower limbs during walking. Dysfunction in LDH patients was associated with immoderate intermuscular co-contraction of the TA-LG during walking.

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A study of the efficacy of external fixation in healing large, deep and unstable diabetic foot wounds

International Surgery Journal ◽

10.18203/2349-2902.isj20190812 ◽

2019 ◽

Vol 6 (3) ◽

pp. 669

Author(s):

Byomokesh Patro ◽

Pankaj Surana ◽

Kailash Chandra Mahapatra

Keyword(s):

External Fixation ◽

External Fixator ◽

Lower Limb ◽

Diabetic Foot ◽

Foot Ulcer ◽

Diabetic Foot Ulcer ◽

Working Environment ◽

Lower Limbs ◽

Control Group ◽

Study Group

Background: Infection of a diabetic foot wound heralds a poor outcome, early diagnosis and treatments are important. The aim of the study was to study the efficacy of external fixation in healing large, deep and unstable diabetic foot wounds.Methods: 50 patients with diabetic foot ulcer considered for the present study. Out of this 50 cases 25 are selected for external fixations (study group), after fulfilling the inclusion criteria and rest 25 cases are managed by posterior slab support. After reducing the infective load, the external fixator was applied as per application of external fixator procedure. The fixator is kept for 4 to 6 weeks. Daily dressings are done with advance dressing materials. Posterior slab group 25 patients are included having large, deep ulcers and unstable joints, to which posterior slabs were supported after proper and extensive debridement of wound under SA/LA.Results: DFU predominantly affects right lower limb than left lower limb. Both lower limbs affected in 4% cases. Because of different working environment males are more vulnerable to foot ulcerations. Out of 50 cases 48 (96%) of DFU are unilateral and 32 no of cases (64%) are predominantly occurs in right lower limb (Table 2). Out of 50 cases 38 no. of patient are males and 12 no. of patient are females. External fixator in exposed joint decreases the wounds in 52 days where as by posterior slab support 59 days. The mean surfaces are of the wound after therapy in study group is 75 cm2 and in control group it was 78 cm2.Conclusions: Large ulcers and exposed joints due to diabetic foot can be managed by external fixator for better prognosis than posterior slab method.

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Expression of the proinflammatory marker CD34 in varicose leg veins

Phlebologie ◽

10.12687/phleb2221-1-2015 ◽

2015 ◽

Vol 44 (01) ◽

pp. 19-23

Author(s):

I.V. Samsonava ◽

M. M. Galishevich ◽

S. A. Sushkou

Keyword(s):

Lower Limb ◽

Varicose Veins ◽

Control Sample ◽

Lower Limbs ◽

Control Group ◽

Posterior Tibial ◽

Vena Saphena Magna ◽

Primary Varicose Veins ◽

Deep Vein ◽

Cd34 Expression

Summary Objective: To study the CD34 expression in the leg veins with primary varicose veins. Material and Methods: The study included 18 patients with lower limbs varicose veins and deep vein valves insufficiency of C3 and C4 clinical classes (CEAP). To correct blood flow phlebectomy was accompanied by posterior tibial veins resection. Using immunohistochemistry, we compared the expression of CD34 in resected posterior tibial veins specimens and vena saphena magna distal fragment. Results: Posterior tibial veins wall in patients with lower limb varicosity and deep veins valves insufficiency vary the CD34 degree expression comparing with the control group. Total area of expression was significantly greater than in control sample. CD34 expression area was also significantly greater in vena saphena magna than in control group. CD34 expression comparison in the specimens from patients with varicose veins showed its significantly higher degree in the vena saphena magna than in tibial veins. Conclusion: With primary varicose veins superficial and deep leg veins develop unidirectional increase of CD34 expression, that can be assumed as a pathogenetic factors of further disease progression and involvement of deep vein valves.

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A Prospective Study of Postoperative Lymphedema After Surgery for Cervical Cancer

International Journal of Gynecological Cancer ◽

10.1111/igc.0b013e3181da29d0 ◽

2010 ◽

Vol 20 (5) ◽

pp. 900-904 ◽

Cited By ~ 18

Author(s):

Michael J. Halaska ◽

Marta Novackova ◽

Ivana Mala ◽

Marek Pluta ◽

Roman Chmel ◽

...

Keyword(s):

Cervical Cancer ◽

Lower Limb ◽

Bioelectrical Impedance ◽

Impedance Analysis ◽

Conservative Surgery ◽

Cancer Surgery ◽

Lower Limbs ◽

Control Group ◽

The Right ◽

A Prospective Study

Objective:Lymphedema is a severe postoperative complication in oncological surgery. Multifrequency bioelectrical impedance analysis (MFBIA) is a new method for early lymphedema detection. The objective was to establish the methodology of MFBIA for lower-limb lymphedema and to detect a lymphedema in patients undergoing cervical cancer surgery.Methods:From a population of 60 patients undergoing cervical cancer surgery, 39 underwent radical hysterectomy Wertheim III (RAD group), and 21 underwent conservative surgery (laparoscopic lymphadenectomy plus simple trachelectomy/simple hysterectomy - CONS group). A control group of 29 patients (CONTR group) was used to determine the SD of impedance at zero frequency (R0). Patients were examined before surgery and at 3 and 6 months after surgery by MFBIA and by measuring the circumference of the lower limbs.Results:No differences were found between the CONS and RAD groups on age, height, weight, and histopathologic type of tumor. However, the number of dissected lymph nodes differed significantly between the groups (17.3 in the CONS group vs 25.8 in the RAD group,P= 0.0012). The SD ofR0in the CONTR group was 36.0 and 39.0 for the right and the left leg, respectively. No difference in prevalence of lymphedema based on circumference method was found (35.9% in the RAD and 47.6% in the CONS groups, not statistically significant).Conclusions:No difference in the prevalence of lymphedema was found between the CONS and RAD groups. A methodology for MFBIA for the detection of lower-limb lymphedema was described.

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Effects of Whole-Body Vibration Training on Lower Limb Blood Flow in Children with Myelomeningocele—A Randomized Trial

Journal of Clinical Medicine ◽

10.3390/jcm10184273 ◽

2021 ◽

Vol 10 (18) ◽

pp. 4273

Author(s):

Małgorzata Domagalska-Szopa ◽

Andrzej Szopa ◽

Andrzej Siwiec ◽

Ilona Kwiecień-Czerwieniec ◽

Lutz Schreiber ◽

...

Keyword(s):

Blood Flow ◽

Lower Limb ◽

Whole Body Vibration ◽

Lower Limbs ◽

Whole Body ◽

Control Group ◽

Body Vibration ◽

Conventional Physiotherapy ◽

Whole Body Vibration Training ◽

The Impact

The objective of the present study was to determine the effectiveness of a three-week Whole-Body Vibration (WBV) training on the vascular blood flow of the lower limbs in children with myelomeningocele. The secondary goal was to evaluate the effect of WBV on the ROM of lower limb joints in this population. A total of 30 children with MMC (7–16 years old) were enrolled in the study. Children were randomly allocated to two groups of equal numbers, using an envelope code. The experimental group underwent a 3-week WBV training, while the control group received a 3-week conventional physiotherapy (PT) program. The examination consisted of two parts: (1) Doppler USG examination of the lower limb vascular blood flow; (2) evaluation of ROM. The results obtained revealed three main findings. First, WBV training effectively improved blood flow by increasing flow velocities in all tested arteries, while the impact of the PT program was limited to a single parameter. Second, WBV training effectively improved vascular resistance in arteries of the lower legs, while the PT program did not achieve any significant differences. Third, both types of treatment intervention significantly improved ROM in all joints of the lower limbs in MMC participants.

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PRELIMINARY EVIDENCE OF EFFECTIVENESS OF TECAR IN LYMPHEDEMA

Lymphology ◽

10.2458/lymph.4623 ◽

2019 ◽

Vol 52 (1) ◽

Author(s):

N Cau ◽

V Cimolin ◽

V Aspesi ◽

M Galli ◽

F Postiglione ◽

...

Keyword(s):

Lower Limb ◽

Lymphatic Drainage ◽

Rehabilitation Program ◽

Volume Reduction ◽

Lower Limbs ◽

Control Group ◽

Morbidly Obese ◽

Mobility Impairment ◽

Timed Up And Go ◽

Pressure Therapy

Lymphedema of the lower limbs often contributes to the mobility impairment of morbidly obese patients. Defining novel cost-effective protocols is important for reducing treatment costs. The study aimed to assess if Capacitive and Resistive Energy Transfer (TECAR) can reduce edema and the minimum number of sessions needed to observe volume reduction. Forty-eight severely obese subjects (age range: 46-78 years; BMI >40 kg/m2) with bilateral lower limb lymphedema were divided into three groups undergoing either manual lymphatic drainage, pressure therapy, or TECAR, in addition to a multidisciplinary rehabilitation program. They were compared to a control group composed by 12 women (age: 67.4 ± 8.9 years, BMI: 44.6 ± 4.1 Kg/m2) undergoing only the rehabilitation program. A handheld laser scanner 3D system was used for volume measurements. In addition, patients were evaluated with a Timed Up and Go (TUG) test and pain/heaviness of the lower limbs with a Visual Analog Scale (VAS). A significant volume reduction was observed after 6 sessions of TECAR: specifically, in the whole limb (PRE: 9.7+2.8 dm3; POST: 9.4+2.8 dm3; p<0.05) and in the thigh (PRE: 3.5+1.3 dm3; POST: 3.3+1.2 dm3; p<0.05). The TUG and VAS for pain showed a significant improvement in all groups. Our preliminary results suggest that TECAR can provide a relatively early reduction of lower limb edema with improvement of patients' function and pain.

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Genetic predictors of an unfavorable course of obliterating atherosclerosis of lower limb arteries

I P Pavlov Russian Medical Biological Herald ◽

10.17816/pavlovj65383 ◽

2021 ◽

Vol 29 (2) ◽

pp. 251-256

Author(s):

Roman E. Kalinin ◽

Igor A. Suchkov ◽

Artem A. Chobanyan ◽

Aleksandr A. Nikiforov ◽

Evgenia I. Shumskaya

Keyword(s):

Healthy Volunteers ◽

Lower Limb ◽

Young Patients ◽

Lower Limbs ◽

Control Group ◽

Critical Ischemia ◽

Genetic Predictors ◽

Increased Risk ◽

The Difference ◽

Progressive Course

AIM: This study aimed to determine the influence of 250GA polymorphism in the LIPC gene and 1607insG in the MMP-1 gene on the course of obliterating atherosclerosis of lower limb arteries (OALLA). MATERIALS AND METHODS: Seventy-six individuals were included in this study. In the first group (n = 34), patients with an unfavorable (progressive) course of OALLA and developed critical ischemia of the lower limbs within 5 years from the onset of the disease were included. In the second group (n = 34), patients with a conventionally favorable (non-progressive) course but did not develop critical ischemia of the lower limbs within 5 years from the onset of the disease and did not have a progressive degree of chronic ischemia. In the control group, healthy volunteers (n = 8) without signs of atherosclerosis in all vascular pools were included. In all the patients, LIPC-250GA and MMP-1-1607insG were genotyped. The difference in the observed and expected frequencies was evaluated via a Pearson 2 test with correction for likelihood. RESULTS: Significant differences (p = 0.013) in the 250GA polymorphism of the LIPC gene were found between the observed and expected frequencies compared with those in patients with OALLA and healthy volunteers. The assessment of the first and second groups revealed differences in the observed and expected frequencies (р = 0.004). Heterozygous carriage (GA genotype) was associated with an increased risk of the development of the unfavorable course of OALLA (hazard ratio = 2.133 with 95% confidence interval = 1.2143.748). In the analysis of the 1607insG polymorphism of the MMP-1 gene, statistically insignificant data were obtained compared between the first and second groups (р = 0.128) and between the groups of patients with OALLA and healthy volunteers (р = 0.38). CONCLUSIONS: The heterozygous carrier of LIPC 250GA was associated with an increased risk of an unfavorable OALLA course. This research on this polymorphism could be applied to patients with the newly diagnosed atherosclerosis of the arteries of the lower extremities to determine the prognosis of the disease course, especially in young patients with early manifestation and individuals with a burdened hereditary history. The 1607insG polymorphism of the MMP-1 gene had no effect on the course of OALLA.

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Pelvic Protection Limiting Lower Limb Flail Reduces Mortality

Journal of Biomechanical Engineering ◽

10.1115/1.4048078 ◽

2020 ◽

Vol 143 (2) ◽

Author(s):

Iain A. Rankin ◽

Thuy-Tien Nguyen ◽

Diagarajen Carpanen ◽

Alastair Darwood ◽

Jonathan C. Clasper ◽

...

Keyword(s):

Shock Tube ◽

Vascular Injury ◽

Murine Model ◽

Lower Limb ◽

Injury Severity ◽

Blast Injury ◽

Fracture Incidence ◽

Lower Limbs ◽

Control Group ◽

Minimal Reduction

Abstract Pelvic blast injury is one of the most severe patterns of injury to be sustained by casualties of explosions. We have previously identified the mechanism of injury in a shock tube-mediated murine model, linking outward flail of the lower limbs to unstable pelvic fractures and vascular injury. As current military pelvic protection does not protect against lower limb flail, in this study we have utilized the same murine model to investigate the potential of novel pelvic protection to reduce injury severity. Fifty cadaveric mice underwent shock-tube blast testing and subsequent injury analysis. Pelvic protection limiting lower limb flail resulted in a reduction of pelvic fracture incidence from both front-on (relative risk (RR) 0.5, 95% confidence intervals (CIs) 0.3–0.9, p < 0.01) and under-body (RR 0.3, 95% CI 0.1–0.8 p < 0.01) blast, with elimination of vascular injury in both groups (p < 0.001). In contrast, pelvic protection, which did not limit flail, had no effect on fracture incidence compared to the control group and was only associated with a minimal reduction in vascular injury (RR 0.6, 95% CI 0.4–1.0, p < 0.05). This study has utilized a novel strategy to provide proof of concept for the use of pelvic protection, which limits limb flail to mitigate the effects of pelvic blast injury.

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