scholarly journals Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI

2021 ◽  
pp. 1-12
Author(s):  
Tokunbor A. Lawal ◽  
Aneesh Patankar ◽  
Joshua J. Todd ◽  
Muslima S. Razaqyar ◽  
Irene C. Chrismer ◽  
...  

Background: Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI). Objective: To demonstrate an automated protocol for quantification of IMFI in the lower extremity muscles of individuals with RYR1-RM using T1-weighted MRI and to examine the relationships of IMFI with motor function and clinical severity. Methods: Axial images of the lower extremity muscles were acquired by T1-weighted fast spin-echo and short tau inversion recovery (STIR) sequences. A modified ImageJ-based program was used for quantification. IMFI data was analyzed by mode of inheritance, motor function, and clinical severity. Results: Upper and lower leg IMFI from 36 genetically confirmed and ambulatory RYR1-RM affected individuals (26 dominant and 10 recessive) were analyzed using Grey-scale quantification. There was no statistically significant difference in IMFI between dominant and recessive cases in upper or lower legs. IMFI in both upper and lower legs was inversely correlated with participant performance on the motor function measure (MFM-32) total score (upper leg: p <  0.001; lower leg: p = 0.003) and the six-minute walk test (6MWT) distance (upper leg: p <  0.001; lower leg: p = 0.010). There was no significant difference in mean IMFI between participants with mild versus severe clinical phenotypes (p = 0.257). Conclusion: A modified ImageJ-based algorithm was able to select and quantify fatty infiltration in a cohort of heterogeneously affected individuals with RYR1-RM. IMFI was not predictive of mode of inheritance but showed strong correlation with motor function and capacity tests including MFM-32 and 6MWT, respectively.

2009 ◽  
Vol 22 (1) ◽  
pp. 21-27 ◽  
Author(s):  
Mohammadtaghi Khorasani ◽  
Noor Osman ◽  
Ashril Yusof

Biomechanical Responds of Instep Kick between Different Positions in Professional Soccer PlayersThe purpose of this study was to investigate some selected biomechanical characteristics of lower extremity between professional soccer defenders, midfielders and strikers. The kicking motions of dominant legs were captured from fifteen Olympic professional soccer players; (height: 181.93 ± 7.03 cm; mass: 70.73 ± 10.85 kg; age: 20.8 ± 0.77 years), volunteered to participate in this study, using four digital video cameras. There were significant differences between midfielders and defenders in (1) lower leg angular velocity (p ≤ 0.001), (2) thigh angular velocity (p ≤ 0.001), (3) lower leg net moment (p ≤ 0.001), (4) thigh net moment (p ≤ 0.001), and (5) ball velocity (p ≤ 0.012). There were significant differences between midfielders and strikers in lower leg net moment (p ≤ 0.001). There were significant differences between strikers and defenders in; (1) lower leg angular velocity (p ≤ 0.001), (2) thigh angular velocity (p ≤ 0.001), (3) lower leg net moment (p ≤ 0.001), (4) thigh net moment (p ≤ 0.001), and (5) ball velocity (p ≤ 0.024). In conclusion, midfielders can perform soccer instep kicking strongly and faster than defenders and there is, however, no significant difference between midfielders and strikers, but midfielders' ball velocity is higher than strikers' ball velocity.


2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Yu-Rong Mao ◽  
Wai Leung Lo ◽  
Qiang Lin ◽  
Le Li ◽  
Xiang Xiao ◽  
...  

Objective. Gait performance is an indicator of mobility impairment after stroke. This study evaluated changes in balance, lower extremity motor function, and spatiotemporal gait parameters after receiving body weight supported treadmill training (BWSTT) and conventional overground walking training (CT) in patients with subacute stroke using 3D motion analysis.Setting. Inpatient department of rehabilitation medicine at a university-affiliated hospital.Participants. 24 subjects with unilateral hemiplegia in the subacute stage were randomized to the BWSTT(n=12)and CT(n=12)groups. Parameters were compared between the two groups. Data from twelve age matched healthy subjects were recorded as reference.Interventions. Patients received gait training with BWSTT or CT for an average of 30 minutes/day, 5 days/week, for 3 weeks.Main Outcome Measures. Balance was measured by the Brunel balance assessment. Lower extremity motor function was evaluated by the Fugl-Meyer assessment scale. Kinematic data were collected and analyzed using a gait capture system before and after the interventions.Results. Both groups improved on balance and lower extremity motor function measures(P<0.05), with no significant difference between the two groups after intervention. However, kinematic data were significantly improved(P<0.05)after BWSTT but not after CT. Maximum hip extension and flexion angles were significantly improved(P<0.05)for the BWSTT group during the stance and swing phases compared to baseline.Conclusion. In subacute patients with stroke, BWSTT can lead to improved gait quality when compared with conventional gait training. Both methods can improve balance and motor function.


Author(s):  
Selly Marisdina ◽  
Henry Sugiharto ◽  
A Pradian

Back Ground: Hemifacial spasm is one of movement disorder case that commonly found in daily clinical practice. Epidemiological data are very limited, the average prevalence is 11 per 100,000 population, 14.5 per 100,000 in women and 7.4 per 100,000 in men. In Germany, the estimated prevalence is 8000 to 9000 peoples.1 The incidence of women is more than that of men with a ratio of 2:1. Based on Yaltho and Jankovic study in 2011, out of 215 patients, the ratio of men to women was 1:1.8.2 One study in Indonesia also reported that most of the subjects were female (64.7%).3 Treatment with botulinum toxin injections is preferred to microvascular decompression surgery therapy, but this injection is only effective in a few months and quite expensive. This study is the first study to assess the effectiveness of dry needling on clinical improvement of hemifacial spasm compared to standard therapy of botulinum toxin injection.Methods: The study design was quasi experimental. Total of 24 subjects were divided into two groups. The first group underwent dry needling intervention while the other had botulinum injection. Clinical severity before and after treatment in both groups was assessed using Jankovic and HFS7 scores.Results: In dry needling group there were significant differences between Jankovic and HFS7 score at baseline and at week 1, 2, 3 and 4. While in botox group significant differences were also Jankovic and HFS7 score at baseline and at weeks 2 and 4. There were also a significant difference of Jankovic and HFS7 score when we compared dry needling group to botulinum toxin group.Conclusion: Dry needling can be an alternative treatment for hemifacial spasm, although clinical improvements based on Jankovic and HFS7 scores in dry needling group were not as effective as those with botulinum toxin injections.


Author(s):  
Reem M. Alwhaibi ◽  
Noha F. Mahmoud ◽  
Mye A. Basheer ◽  
Hoda M. Zakaria ◽  
Mahmoud Y. Elzanaty ◽  
...  

Recovery of lower extremity (LE) function in chronic stroke patients is considered a barrier to community reintegration. An adequate training program is required to improve neural and functional performance of the affected LE in chronic stroke patients. The current study aimed to evaluate the effect of somatosensory rehabilitation on neural and functional recovery of LE in stroke patients. Thirty male and female patients were recruited and randomized to equal groups: control group (GI) and intervention group (GII). All patients were matched for age, duration of stroke, and degree of motor impairment of the affected LE. Both groups received standard program of physical therapy in addition to somatosensory rehabilitation for GII. The duration of treatment for both groups was eight consecutive weeks. Outcome measures used were Functional Independent Measure (FIM) and Quantitative Electroencephalography (QEEG), obtained pre- and post-treatment. A significant improvement was found in the FIM scores of the intervention group (GII), as compared to the control group (GI) (p < 0.001). Additionally, QEEG scores improved within the intervention group post-treatment. QEEG scores did not improve within the control group post-treatment, except for “Cz-AR”, compared to pretreatment, with no significant difference between groups. Adding somatosensory training to standard physical therapy program results in better improvement of neuromuscular control of LE function in chronic stroke patients.


2021 ◽  
Vol 9 (7_suppl3) ◽  
pp. 2325967121S0002
Author(s):  
Indranil Kushare ◽  
Ramesh Babu Ghanta ◽  
Nicole A. Wunderlich

Background: Traumatic internal degloving injury i.e. Morel-Lavallée lesion (MLL) develops as a result of blunt trauma with tangential shear forces. In the pediatric population, these have been described only as small case reports till date. Purpose: To describe the largest case series of lower extremity Morel-Lavallée lesion (MLL) in the pediatric population, to determine its etiology (especially its relationship to sports), treatment and outcomes. Methods: Retrospective study of patients <18 years presenting to a tertiary children’s hospital with MLL between 2013-2019. Demographics, clinical data, imaging features, treatment and outcomes data was collected. Descriptive statistical analysis was conducted. Results: 38 patients (21 males, 17 females) having MLL with mean age 14.6 years were classified into 2 groups- hip/thigh MLL (9 patients) and lower leg MLL (29) (Table 1.1). Most common cause of lower leg MLL was sports injury (79%). Most commonly implicated sports in MLL were football and baseball(24% each). Associated injuries were seen in 9 (23%) patients. Radiographs done in 58% of patients showed no bony abnormalities. Imaging modality of choice was MRI for lower leg MLLs (72%) and US for hip/thigh MLL (67%)(Fig.1.2). MLL size was larger for hip/thigh MLL (168 cm3) as compared to leg MLL (38.6 cm3). 25 (65.8%) of MLLs were treated with conservative management,12 (31.5%) with minimally invasive methods and 1(2.6%) needed surgical management. 2/9 (22.2%) of the associated injuries required operative management. 2/38 (5%) patients were given prophylactic antibiotics. 72.4% Lower leg MLLs were treated with conservative management while intervention was needed more in hip/thigh MLLs (55.6%). Patients returned to activities at 14.3 weeks for hip/thigh MLL;9.1 weeks for lower leg MLL. 24 patients with adequate documentation demonstrated lower extremity functional score (LEFS) and pain level of 74/80 (92.5%) and 0.7/10 respectively at mean 12.5 months follow-up. Leg cellulitis was seen as a complication in one patient. Conclusion: The largest case series on MLL exclusively in the pediatric population suggests that they are more common in knee/leg region region and usually caused by sports injuries which is notably different as compared to adult population. Most pediatric injuries are treated conservatively, especially sports related MLLs. Although return to activities takes longer for hip/thigh injuries, majority of patients regain satisfactory functionality post-injury. [Table: see text][Figure: see text]


2021 ◽  
Vol 37 (5) ◽  
pp. 1729-1740
Author(s):  
Conor Scott Gillespie ◽  
◽  
Alan Matthew George ◽  
Benjamin Hall ◽  
Steven Toh ◽  
...  

Abstract Purpose Investigate the effect of age category (1–9 years vs 10–18 years), sex, Gross Motor Function Classification System (GMFCS) level, and presence of dystonia on changes in eight function test parameters 24 months after selective dorsal rhizotomy (SDR). Methods Prospective, single-center study of all children aged 3–18 years with bilateral cerebral palsy with spasticity who underwent SDR at a tertiary pediatric neurosurgery center between 2012 and 2019. A linear mixed effects model was used to assess longitudinal changes. Results From 2012 to 2019, 42 children had follow-up available at 24 months. Mean GMFM-66 scores increased after SDR (mean difference 5.1 units: 95% CI 3.05–7.13, p < 0.001). Statistically significant improvements were observed in CPQoL, PEDI Self-care and Mobility, 6MWT, Gillette, and MAS scores. There was no significant difference in the improvements seen for age category, sex, GMFCS level, and presence of dystonia for most of the parameters tested (5/8, 6/8, 5/8, and 6/8 respectively). Conclusion SDR may improve gross and fine motor function, mobility and self-care, quality of life, and overall outcome based on extensive scoring parameter testing at 24 months. Atypical patient populations may benefit from SDR if appropriately selected. Multi-center, prospective registries investigating the effect of SDR are required.


2021 ◽  
pp. 107110072110028
Author(s):  
Thos Harnroongroj ◽  
Theerawoot Tharmviboonsri ◽  
Bavornrit Chuckpaiwong

Background: Conservative treatment is the first-line approach for Müller-Weiss disease (MWD). However, factors associated with the failure of conservative treatment have never been reported. Our objectives were to compare the differences in demographic and radiographic parameters between “successful” and “failure” conservative treatment in patients with MWD and identify descriptive factors associated with failure conservative treatment. Methods: We retrospectively reviewed 68 patients with MWD divided into 29 “failure” and 39 “successful” conservative treatment groups. Demographic characteristics, Foot and Ankle Outcome Score (FAOS), visual analog scale (VAS) scores for pain and walking disability, and radiographic parameters such as calcaneal pitch, lateral Meary, anteroposterior (AP) Meary angle, and talonavicular-naviculocuneiform arthritis were compared. Logistic regression analysis was performed to identify descriptive factors of failure conservative treatment. A P value <.05 was considered a statistically significant difference. Results: We found more severe VAS pain and walking disability scores and FAOS for the pain, activities of daily living, and quality of life subscales in the failure group ( P < .05). Regression analysis demonstrated 2 significant descriptive factors associated with failure conservative treatment: abducted AP Meary angle >13.0 degrees and radiographic talonavicular arthritis. No demographic characteristics were found to be associated with failure conservative treatment. Conclusion: Midfoot abduction (AP Meary angle, >13 degrees) and radiographic talonavicular arthritis were factors associated with failure conservative treatment in MWD and should be determined concurrently with the clinical severity. Classification systems for MWD should include these factors. Level of evidence: Level III, retrospective comparative study.


Vascular ◽  
2011 ◽  
Vol 19 (1) ◽  
pp. 29-33 ◽  
Author(s):  
Saadi Alhalbouni ◽  
Anil Hingorani ◽  
Alexander Shiferson ◽  
Natalie Marks ◽  
Enrico Ascher

Infra-popliteal veins include the tibial and peroneal veins, as well as the soleal and gastrocnemial veins collectively known as the calf muscle veins (CMVs). Acute infra-popliteal deep venous thrombi (DVTs) are often considered insignificant with regard to the risk of pulmonary embolism (PE). A retrospective review of 4035 consecutive lower extremity venous duplex scans were made in 3146 hospital patients at our Intersocietal Commission for the Accreditation of Vascular Laboratories (ICAVL)-accredited vascular lab. Seven hundred sixteen (17.7%) duplex scans were positive for acute DVTs, and 112 (2.8%) were associated with PEs. The breakdown of positive duplexes for acute DVTs was as follows: 202 (28.2%) isolated femoral-popliteal DVTs with PE in 23 (11.4%), 304 (42.5%) isolated infra-popliteal DVTs with PE in 24 (7.9%) and 210 (29.3%) multilevel DVTs involving both vein segments (femoral-popliteal and infra-popliteal) with PE in 38 (18.1%). Of the 304 isolated acute infra-popliteal DVTs, 207 (68.1%) were isolated CMV DVTs with evidence of PE in 12 (5.8%). No statistically significant difference ( P = 0.27) in the risk of PE between isolated femoral-popliteal and isolated infra-popliteal DVTs was noted. A significant number of patients (5.8%) with isolated CMV DVTs developed PE. Lower limb venous scans for DVTs should evaluate the infra-popliteal veins. Hospitalized patients with infra-popliteal DVTs should receive anticoagulation.


Author(s):  
Priyanka Jain ◽  
Rakesh Jain

Background & Method: We conducted a double blinded study at Index Medical College Hospital & Research Centre, Indore. The sample size was determined to be minimum of 120 cases as based upon previous years admission due to acute bronchiolitis. Initially, 146 cases were included in the study out of which 23 cases dropped out of the study after giving consent by guardian for participation in the study as they left against medical advice from the hospital. Result: The mean difference of CSS between 0 minutes to 60 minutes of nebulisation between groups in all cases was 0.4 ± 0.6, between 60 minutes and 4 hours was 0.8 ± 0.6, between 4 to 8 hours was 0.7 ± 0.6, between 8-12 hours was 0.6 ± 0.4, between 12-24 hours was 1.6 ± 0.9 and between 24-48 hours was 1.9 ± 0.9.The mean values and resultant p-value of ANOVA of various nebulising agents used for improvement in CSS shows significant association between various nebulising agents used along with improvement in CSS at the end of assessment at 48 hours of treatment. Conclusion: This study was conducted to establish the efficacy of each nebulisation agent (i.e.  adrenaline, 3% hypertonic saline and normal saline) currently used and compare the outcomes as there is not enough evidence amongst Indian population on level of efficacy of each drug in causing improvement in symptoms and signs in various severities of bronchiolitis in early childhood. Comparison of significant improvement in mean difference in CSS at various intervals in all cases compared between groups by post hoc test revealed non-significant difference (p-value 0.700) between 3% hypertonic saline and normal saline. Keywords: nebulisation, adrenaline, bronchiolitis & clinical.


1999 ◽  
Vol 117 (5) ◽  
pp. 205-214 ◽  
Author(s):  
Joel Isidoro Costa ◽  
José Luiz Gomes do Amaral ◽  
Masashi Munechika ◽  
Yara Juliano ◽  
José Gomes Bezerra Filho

CONTEXT: The performance of each ICU needs to be assessed within the overall context of medical care, as well as by the institution which the ICU forms part of. Evaluation mechanisms in the field of intensive care have been developed that are recognized worldwide within the scientific literature. OBJECTIVE: To study outcomes from groups of critical patients and to compare their actual and estimated mortality rates. DESIGN: Prospective study of patients' outcomes. SETTING: A tertiary care unit for a period of 13 months (anesthesiology intensive care unit at the Escola Paulista de Medicina). PARTICIPANTS: 520 patients selected according to sex, age and nature of hospitalization. DIAGNOSTIC TEST: The modified APACHE II prognostic index was applied in order to assess clinical severity and anticipation of mortality in three groups who had non-surgical treatment, emergency surgery and elective surgery. MAIN MEASUREMENTS: The APACHE II index. RESULTS: The application of this index allowed patients to be stratified and expected death risks for both subgroups and the entire sample population to be calculated. The observed mortality rate was greater than the expected rate (28.5% versus 23.6%, respectively), with a statistically significant difference. The standardized mortality rate was 1.20. Patients who obtained scores above 25 presented a significant outcome towards death. The most severe and worst evolving cases were, in decreasing order: non-surgical, emergency surgical and scheduled surgical patients; the actual general mortality rate was higher than the expected one. CONCLUSIONS: The use of the APACHE II index made it possible to stratify critical patient groups according to the severity of their condition.


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