scholarly journals Long-term Evaluation Parameters in GNE Myopathy: A Five-year Observational Follow-up Natural History Study

Author(s):  
Madoka Mori-Yoshimura ◽  
Hiroyuki Yajima ◽  
Yasushi Oya ◽  
Katsuhiro Mizuno ◽  
Satoru Noguchi ◽  
...  

Abstract BackgroundA number of clinical trials targeting GNE myopathy patients have been conducted. However, useful clinical parameters for post-marketing surveillance and long-term clinical observation have not yet been established. ObjectiveWe conducted a 5-year observational follow-up natural history study to identify evaluation parameters which may be useful for the long-term observation of GNE myopathy patients. MethodsThirty-three genetically-confirmed GNE myopathy patients were recruited and evaluated at study entry (baseline) and yearly in a 5-year follow-up. Hand-held dynamometer measurements of knee extension strength, grip power, and pinch power, summed Manual Muscle Testing (MMT) score of 17 muscles, Gross Motor Function Measure (GMFM), 6-minute walk test, percent vital capacity and percent force vital capacity (%FVC), lean body mass (whole body, arms, and legs), creatine kinase (CK), Barthel Index, modified Rankin Scale, and SF-36 national standard scores were examined. ResultsOf the 33 patients, 22 (66%) completed evaluations for the entire 5-year follow-up period. These patients had a significant reduction in summed MMT score (p=0.001), GMFM (p=0.001), grip power (p=0.013), pinch power (p<0.001), CK (p=0.030), %FVC (p<0.001), leg lean body mass (p=0.040), and the Physical Functioning subscale score of the SF-36 (p=0.015) at the 5th year evaluation relative to baseline. Among these parameters, summed MMT score, GMFM, pinch power, and %FVC showed significant changes even in non-ambulant patients.ConclusionsMMT, GMFM, pinch power, CK, %FVC, lean body mass, and Physical Functioning subscale score of the SF-36 are useful parameters for the long-term evaluation of GNE myopathy patients.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Shahla Safari ◽  
Maryam Abdoli ◽  
Masoud Amini ◽  
Ashraf Aminorroaya ◽  
Awat Feizi

AbstractThis study aimed to evaluate the patterns of changes in obesity indices over time in prediabetic subjects and to classify these subjects as either having a low, moderate, and high risk for developing diabetes in the future. This study was conducted among 1228 prediabetics. The patterns of changes in obesity indices based on three measurements including first, mean values during the follow-up period, and last visit from these indices were evaluated by using the latent Markov model (LMM). The mean (standard deviation) age of subjects was 44.0 (6.8) years and 73.6% of them were female. LMM identified three latent states of subjects in terms of change in all anthropometric indices: a low, moderate, and high tendency to progress diabetes with the state sizes (29%, 45%, and 26%), respectively. LMM showed that the probability of transitioning from a low to a moderate tendency to progress diabetes was higher than the other transition probabilities. Based on a long-term evaluation of patterns of changes in obesity indices, our results reemphasized the values of all five obesity indices in clinical settings for identifying high-risk prediabetic subjects for developing diabetes in future and the need for more effective obesity prevention strategies.


2005 ◽  
Vol 33 (8) ◽  
pp. 1220-1223 ◽  
Author(s):  
Joseph R. Carney ◽  
Timothy S. Mologne ◽  
Michael Muldoon ◽  
Jay S. Cox

Background Few published articles exist reporting the long-term evaluation of the Roux-Elmslie-Trillat procedure. Purpose To assess the long-term effect of the Roux-Elmslie-Trillat procedure in preventing recurrent subluxation and dislocation of the patella. Study Design Case series; Level of evidence, 4. Methods Eighteen patients who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella were identified from a group previously evaluated at a mean follow-up of 3 years. The prevalence of recurrent subluxation or dislocation at a mean follow-up of 26 years was compared with the prevalence reported at the mean follow-up of 3 years. Although not the focus of this study, Cox functional scores were obtained from the smaller group and compared with the results at the 3-year follow-up. Results Seven percent (95% confidence interval, 0.00-0.32) of the patients had recurrent subluxation at 26 years compared with 7% (95% confidence interval, 0.03-0.13) of the study population reported at 3 years (P = 1.00). Fifty-four percent (95% confidence interval, 0.27-0.79) rated their affected knee as good or excellent at 26 years compared with 73% (95% confidence interval, 0.64-0.81) of the larger study population reported at 3 years (P = .14). Conclusion The prevalence of recurrent subluxation and dislocation in patients with patellofemoral malalignment who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella is similar at 3 and 26 years after the procedure. The long-term functional status of the affected knee in patients who underwent the Roux-Elmslie-Trillat procedure declined.


2009 ◽  
Vol 27 (32) ◽  
pp. 5350-5355 ◽  
Author(s):  
Odile Oberlin ◽  
Oumaya Fawaz ◽  
Annie Rey ◽  
Patrick Niaudet ◽  
Vita Ridola ◽  
...  

PurposeIfosfamide is widely used in pediatric oncology but its nephrotoxicity may become a significant issue in survivors. This study is aimed at evaluating the incidence of late renal toxicity of ifosfamide and its risk factors.Patients and MethodsOf the 183 patients prospectively investigated for renal function, 77 treated for rhabdomyosarcoma, 39 for other soft tissue sarcoma, 39 for Ewing's sarcoma, and 28 for osteosarcoma were investigated at least 5 years after treatment. No patients had received cisplatin and/or carboplatin. Glomerular and tubular functions were graded according to the Skinner system.ResultsThe median dose of ifosfamide was 54 g/m2(range, 18 to 117 g/m2). After a median follow-up of 10 years, 89.5% of patients had normal tubular function, and 78.5% had normal glomerular function rate (GFR). Serum bicarbonate and calcium were normal in all patients. Hypomagnesemia was observed in 1.2% and hypophosphatemia in 1%. The tubular threshold for phosphate was reduced in 24% of the patients (grade 1 in 15%, grade 2 in 8%, and grade 3 in 0.5%). Glycosuria was detected in 37% of the patients but was more than 0.5 g/24 hours in only 5%. Proteinuria was observed in 12%. Ifosfamide dose and interval from therapy to investigations were predictors of tubulopathy in univariate and multivariate analysis. In a multivariate analysis, an older age at diagnosis and the length of interval since treatment had independent impacts on the risk of abnormal GFR.ConclusionRenal toxicity is moderate with a moderate dose of ifosfamide. However, since it can be permanent and can get worse with time, repeated long-term evaluations are important, and this risk should be balanced against efficacy.


2018 ◽  
Vol 35 (04) ◽  
pp. 263-269 ◽  
Author(s):  
Amir Bigdeli ◽  
Emre Gazyakan ◽  
Volker Schmidt ◽  
Christoph Bauer ◽  
Günter Germann ◽  
...  

Background Vascular occlusion after free flap surgery has become a rare complication but still poses a major challenge. It necessitates urgent re-exploration, but the logistic challenge to provide sufficient resources for the emergency intervention remains. The aim of this study was to analyze the long-term outcome after successful lower extremity free flap salvage. Methods A single-center retrospective study including long-term follow-up was approved by the local ethics committee. From January 1999 to December 2010, a total of 581 free flaps were performed for lower extremity reconstruction. Eighty-six flaps required emergency re-exploration, of which 65 could be salvaged. Fifteen salvaged flaps were excluded from the study because of secondary amputation. Of 50 patients, 29 (6 females and 23 males) were eligible for follow-up. The mean follow-up time was 54.5 ± 32.9 months. Health-related quality of life (Short Form 36 [SF-36]) and scar quality (Vancouver Scar Scale [VSS]) were analyzed. Results The overall flap survival rate was 94.7% and the total loss rate was 5.3%. The re-exploration rate was 14.8% (86 of 581 flaps). The salvage rate was 75.6% (65 of 86 flaps). Twenty-one free flaps were totally lost (24.4%). Partial flap loss occurred in 12 cases (14.0%); 67.5% of the vascular complications occurred during the first 24 hours, 20.9% between 24 and 72 hours, and 11.6% after more than 72 hours. The mean time from the first signs of impaired flap perfusion to re-exploration was 1.3 ± 0.4 hours, and from free tissue transfer to re-exploration was 16.2 ± 1.9 hours. The overall scar appearance was good with an average VSS score of 4.0 points. The average SF-36 physical component score was 54.4 ± 5.4 and the mental component score was 63.1 ± 10.7. Conclusion Careful monitoring and the opportunity for urgent re-exploration are the key to success for free flaps salvage. Following these principles, an acceptable long-term outcome can be achieved.


2011 ◽  
pp. P3-285-P3-285
Author(s):  
Sandra Schindler ◽  
Matthias Mohlig ◽  
Natalia Kremenevskaya ◽  
Michael Buchfelder ◽  
Christof Schofl

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
F Bianco ◽  
M Colaneri ◽  
V Bucciarelli ◽  
FC Surace ◽  
FC Iezzi ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: None. Background  To compare long-term outcomes of aortic valve repair (AVr) and pulmonary autograft replacement (Ross procedure) in terms of echocardiographic parameters, quality of life (QoL), physical activity (PA). Methods  In 2005-19, 129 patients (median age 22 [13, 33 IQR], 75% males) underwent aortic surgery in our Department: 40 were Ross (22 years [19, 51 IQR]), 67 AVr (17 years [1, 50 IQR]) and 22 aortic valve replacements (52 years [30, 80 IQR]). We focused on Ross and AVr. Retrospectively, relevant data were collected from medical records and phone re-calls. Physical activity (spontaneous and active) and QoL were assessed utilizing the IPAQ and SF-36 questionnaires. All patients underwent echocardiography pre/post-surgery and the follow-up lasted 12 ± 4 years. Results  At the baseline, Ross patients had more aortic stenosis than insufficiency (P = 0.045). At the follow-up, Ross procedures presented more right-ventricle and aortic annulus dilatation (P = 0.002 and P = 0.030, respectively), but higher left-ventricular global longitudinal strain (LV GLS: 18 ± 3.2 % vs. 16 ± 3.3, P = 0.0027). Conversely, AVr experienced more re-do operations (Log-rank P = 0.005). Ross reported better QoL (SF-36: 0.8 ± 0.07 vs. 19 ± 0.4, P-0.045) and were also more active in daily PA (IPAQ ≥ 2500 Mets: 63.8% vs. 6%; P = 0.006). Ross patients practiced more sports activities than AVr (P = 0.011). Conclusions  In a relatively small cohort of young and adults post aortic surgery patients, Ross procedures had better prognosis in terms of re-do operations; presented better ventricular function, as assessed by LV GLS. Ross patients had better long-term QoL and showed more spontaneous PA and involvement in sports activity.


2021 ◽  
Vol 23 (Supplement_2) ◽  
pp. ii12-ii13
Author(s):  
S M Keshwara ◽  
A I Islim ◽  
C P Millward ◽  
C S Gillespie ◽  
G E Richardson ◽  
...  

Abstract BACKGROUND Long-term Health-Related Quality of Life (HRQoL) is an important measure of patient wellbeing. There is a paucity of studies evaluating HRQoL in meningioma patients. MATERIAL AND METHODS Cross-sectional study of adult patients with an incidental or symptomatic intracranial meningioma. Patients with less than 5 years of follow-up, a history of craniospinal radiation or neurofibromatosis type 2 were excluded. HRQoL was evaluated with SF-36, EORTC QLQ-C30 and EORTC QLQ-BN20 questionnaires. Outcome determinants were evaluated using a multi-variable linear regression analysis, adjusted for patient, tumour and treatment characteristics, and duration of follow-up. RESULTS 699 patients were invited to participate and 246 responded: 118 (48%) had an incidental meningioma. Mean age at diagnosis was 56.8 years (SD=13) and 81% were female. Median time from diagnosis to completion of questionnaire was 8.5 years (IQR 6.8–11.5). During follow-up, 158 patients (64.2%) had at least one operation for their meningioma and 47 patients (19.1%) had radiotherapy. Of those operated, 126 (79.7%) had WHO grade 1 and 24 (15.2%) had grade 2 meningiomas. Compared to normative population values, meningioma patients reported a worse SF-36 general health score (mean 61.9 vs 56.5, P=0.003) but a similar QLQ-C30 global health score (mean 62.3 vs 65.8, P=0.039), worse SF-36 and QLQ-C30 physical functioning scores (mean 74.1 vs 64.6, P&lt;0.001 and mean 81.8 vs 76.5, P=0.007) and similar SF-36 and QLQ-C30 emotional health scores (mean 72.2 vs 70.9, P=0.367 and mean 71.0 vs 71.9, P=0.960). QLQ-C30 cognitive functioning was worse (mean 80.5 vs 71.4, P&lt;0.001). Compared to the meningioma literature, QLQ-BN20 seizure burden was similar (mean 2.0 vs 1.6, P=0.760). A worse performance status at diagnosis was associated with an inferior QLQ-C30 global health score (β-coefficient=-4.9 [95% CI -9.1-(-)0.6] P=0.024). Number of surgeries was significantly associated with a worse QLQ-C30 cognitive functioning score (β-coefficient=-7.0 [95% CI -13.2-(-)0.9], P=0.025). Anti-epileptic drug use was associated with a significantly worse QLQ-C30 emotional health score (β-coefficient=-10.9 [95% CI -21.7-(-)0.01], P=0.050). CONCLUSION Meningioma patients have long-term HRQoL impairments affecting their physical and cognitive functions. An understanding that multiple surgeries affects cognitive function, and the need for anti-epileptic drugs equate to poorer emotional health, could help target appropriate therapies and support in the future.


2020 ◽  
Author(s):  
Lillemor Amanda Nyberg ◽  
Carl Johan Sundberg ◽  
Per Wändell ◽  
Jan Kowalski ◽  
Mai-Lis Hellenius

Abstract Background: Low physical performance is a predictor of morbidity and mortality. This study looks at long-term effects of an exercise intervention on maximal step-up height (MSH) in individuals with low physical function. Furthermore, we studied correlates to changes in MSH. Methods: Female patients (n=101), mean(SD) age of 52(11) years, were recruited for a 3-month group exercise intervention including 2-3 sessions/week of mixed aerobic fitness and strength training. MSH, weight, body mass index (BMI), waist circumference, maximal oxygen consumption (VO₂-max), self-reported health (SF-36) and physical activity (PA) were measured at baseline (T0), after 3 months (T1) and after 14-30(mean 22) months (T2). Relationships between changes in MSH (cm) and age, baseline MSH, time to follow-up, changes in anthropometric measurements, VO₂-max, SF-36 and PA were studied with regression analyses. Results: MSH, significantly, increased from T0 to T1, 27.2(5.7) to 29.0(5.5) cm and decreased to 25.2(5.5) cm at T2. Time to follow-up (B=-0.42, p<0.001) and change in BMI (B=-0.29, p=0.012) correlated significantly to changes in MSH. Waist circumference, VO₂-max, PF and exercise/physical activity levels were significantly improved at T2, while BMI did not change. In a univariate logistic regression model, maintenance of MSH correlated to the extent of mixed training (OR 3.33, 95% CI 1.25-8.89). In a multivariate logistic regression model adjusted for important factors the correlation was not significant. However, MSH was significantly higher in individuals participating in 2-3 session per week compared to one session. Conclusions: A 3-month group exercise intervention increased MSH, improved fitness, decreased risk in female patients with elevated cardio-metabolic risk. After an average of 22 months MSH was reduced while positive effects remained for waist circumference, VO₂-max, physical function and physical activity. However, regular group exercise 2-3 times per week with mixed aerobic fitness and strength training was associated with maintenance of MSH in a subgroup of patients. We suggest that such an intervention including regular support from healthcare professionals is a successful approach for maintaining improved leg-muscle strength among primary care patients.


BMC Surgery ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jian-Ning Sun ◽  
Yu Zhang ◽  
Ye Zhang ◽  
Jia-Ming Zhang ◽  
Xiang-Yang Chen ◽  
...  

Abstract Background The incidence of fractures around the femoral prosthesis among patients undergoing hip arthroplasty is increasing and has become the third leading cause of hip revision. While numerous methods for the surgical treatment of periprosthetic femoral fractures (PFFs) have been proposed, only few reports have examined the long-term efficacy of surgical treatment. This study aims to examine the mid-and long-term efficacy of surgical treatment among patients with Vancouver B2 and B3 PFFs. Methods This retrospective study evaluated the surgical outcomes of patients with Vancouver B2 and B3 PFFs between 2007 and 2011. The minimum follow-up time was eight years. Fracture healing, prosthesis stability, complications, patient quality of life SF-36 score, and survival rate were evaluated during the follow-up assessments. Results A total of 83 patients were included and had an average follow-up period of 120.3 months. Among these patients, 69 were classified as Vancouver B2 and were treated with a distal fixation stem, whereas 14 cases were classified as Vancouver B3 and were treated with modular femoral prosthesis by using a proximal femoral allograft technique. A total of 15 patients underwent secondary revision surgery, and prosthesis dislocation was identified as the main cause of secondary revision. 80 (96.4%) cases of fractures were clinically healed. The mortality rate in the first year after surgery was 8.4% (7/83). The overall 5-year Kaplan–Meier survival rate for these patients was 75.9%. Meanwhile, the 5-year Kaplan–Meier survival rate for the implants was 86.9%. The final follow-up SF-36 score of the patients was 48.3 ± 9.8. Conclusions Patients with Vancouver B2 and B3 PFFs show high mortality in the first year after their surgery, and the Kaplan–Meier analysis results showed that such mortality tends to plateau after 5 years. Prosthesis dislocation was identified as the primary cause of secondary revision.


2019 ◽  
Vol 4 (4) ◽  
pp. 2473011419S0004 ◽  
Author(s):  
Chris Kreulen ◽  
Trevor Shelton ◽  
Jacqueline Nguyen ◽  
Eric Giza ◽  
Martin Sullivan

Category: Ankle, Arthroscopy, Hindfoot, Sports, Trauma Introduction/Purpose: Surgical management of osteochondral lesions of the talus (OLT) present an ongoing treatment challenge. Previously, matrix-induced autologous chondrocyte implantation (MACI) demonstrated improved pain and function at 7-years postoperative, providing evidence that MACI is a reliable method for treating cartilage. However, it is unknown the long- term results of MACI in OLT. The purpose of this study was to assess 13-year clinical follow-up data and the long-term success of this implant by comparing patient reported outcome measures (PROMs) pre-operatively, at 7-years post-operative, and at 13- years post-operative. Methods: A prospective investigation of MACI was performed on 10 patients with OLTs who had failed previous arthroscopic treatment. Of the 10 patients, 9 were available for 7-year and 13-year follow-up. Short Form Health Survey (SF-36) and the American Orthopaedic Foot & Ankle Society (AOFAS) hindfoot evaluation were utilized at pre-operative, 7-year, a 13-year postoperative. For each patient, a paired t-test was used to compare 13-year post-operative PROMs to pre-operative PROMs. A single factor analysis of variance (ANOVA) determined whether PROMs were different between pre-operative, 7-year post- operative, and 13-year post-operative time intervals. When a significant difference was detected, a post-hoc Tukey’s determined which time periods were different. Results: SF-36 data at 13-years showed significant improvements in Physical Functioning (p=0.012), Lack of Bodily Pain (p=0.017), and Social Functioning (p=0.007) compared with preoperative data. There were no differences in other components of the SF-36 outcomes (p>0.05). Although the AOFAS was on average 12 points higher at 13-years postoperative, this was not statistically significant (p=0.173). As for comparing PROMs over time, 13-years post-operative PROMs were comparable to 7-years post- operative (Table 1). There were better PROMs for Physical Functioning, Bodily Pain, and Social Functioning at 7- and 13-years post-operative compared to pre-operative while Physical Role Functioning was also better at 7-years post-operative compared to pre-operative. Conclusion: This study shows MACI provides greater pain relief and function at 13-years post-operative with stable long-term follow-up. MACI should be considered for osteochondral lesions that fail initial microfracture.


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