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1.

Background

Pharmacogenomic variability can contribute to differences in pharmacokinetics and clinical responses. Pediatric patients with cerebral palsy with genetic variations have not been studied for these potential differences.

Objective

To determine the genetic sources of variation in oral baclofen clearance and clinical responses.

Design

Pharmacogenomic add-on study to determine variability in oral baclofen clearance and clinical responses.

Setting

Multicenter study based in academic pediatric cerebral palsy clinics.

Participants

A total of 49 patients with cerebral palsy who had participated in an oral baclofen pharmacokinetic/pharmacodynamic study.

Methods or Interventions

Of 53 participants in a pharmacokinetic/pharmacodynamic trial, 49 underwent genetic analysis of 307 key genes and 4535 single-nucleotide polymorphisms involved in drug absorption, distribution, metabolism, and excretion. Associations between genotypes and phenotypes of baclofen disposition (weight-corrected and allometrically scaled clearance) and clinical endpoints (improvement from baseline in mean hamstring Modified Tardieu Scale scores from baseline for improvement of R1 spastic catch) were determined by univariate analysis with correction for multiple testing by false discovery rate.

Main Outcome Measurements

Primary outcome measures were the genotypic and phenotypic variability of oral baclofen in allometrically scaled clearance and change in the Modified Tardieu Scale angle compared to baseline.

Results

After univariate analysis of the data, the SNP of ABCC9 (rs11046232, heterozygous AT versus the reference TT genotype) was associated with a 2-fold increase in oral baclofen clearance (mean 0.51 ± standard deviation 0.05 L/h/kg for the AT genotype versus 0.25 ± 0.07 L/h/kg for the TT genotype, adjusted P < .001). Clinical responses were associated with decreased spasticity by Modified Tardieu Scale in allelic variants with SNPs ABCC12, SLC28A1, and PPARD.

Conclusions

Genetic variation in ABCC9 affecting oral baclofen clearance highlights the need for continued studies of genetic polymorphisms to better characterize variable drug response in children with cerebral palsy. Single-nucleotide polymorphisms in ABCC12, SLC28A1, and PPARD were associated with varied responses, which warrants further investigation to determine their effect on spasticity.

Level of Evidence

II  相似文献   

2.
Bronchiectasis is a chronic pulmonary disease characterized by the permanent dilatation of the airways, with recurrent infections. As the disease progresses, extrapulmonary symptoms manifest. If the patient with bronchiectasis has an underlying central nervous system disease such as cerebral palsy (CP), extrapulmonary functions decline faster. The co-occurrence of these 2 diseases may make care more complex, and there have been no reports about pulmonary rehabilitation (PR) in this class of patients. Here, we present a patient with bronchiectasis and underlying CP who showed marked improvement of pulmonary function and clinical symptoms after 6 weeks of a patient-specific intensive PR program.

Level of Evidence

IV  相似文献   

3.

Background

Cerebral palsy (CP) is one of the most disabling syndromes in children. To our knowledge, there has not yet been any reported evaluation by ultrasonography of the effect of CP on distal femoral cartilage. The value of understanding this effect on cartilage is that sonographic evaluation of cartilage thickness may help physicians to predict the joint health of these children.

Objective

To determine whether femoral cartilage thickness in patients with CP is different from that in healthy control subjects.

Design

Cross-sectional study.

Setting

National tertiary rehabilitation center.

Patients

The study included 40 patients with diplegic CP (23 male and 17 female) and 51 healthy control subjects (29 male and 22 female).

Methods

Demographic and clinical characteristics were recorded. Cartilage thicknesses were measured.

Main Outcome Measure

Cartilage thickness measurements were taken from the medial and lateral condyles, and intercondylar areas of both knees.

Results

Both groups were similar in terms of age, gender, and weight (P > .05). The mean cartilage thickness measurements of the medial condyle and intercondylar area of knees in the CP group were significantly less than those in the healthy control group (all P < .05). There was moderate negative correlation between age and all femoral cartilage thickness measurements in the CP group. There was no correlation between age and femoral cartilage thickness measurements in the healthy group. There was a negative correlation between Gross Motor Functional Classification System levels and cartilage thickness in the CP group. The highest cartilage thickness measurements were detected in level 1 patients, and the lowest measurements were detected in level 5 patients.

Conclusion

This study showed that patients with CP have a thinner femoral cartilage than healthy control subjects. Management of patients with CP should include close surveillance.

Level of Evidence

III  相似文献   

4.
Jaclyn Omura  Marisa Osorio 《PM & R》2018,10(3):317-319
We present a case of a 17-year-old girl who developed premenstrual dysphoric disorder (PMDD) after sustaining a severe traumatic brain injury (TBI), and we review the diagnosis of PMDD. The patient developed symptoms of severe depression surrounding her menses months after sustaining severe TBI and was diagnosed with PMDD by a psychiatrist. She ultimately required antipsychotics for optimal symptom resolution. PMDD is a severe form of premenstrual syndrome with symptoms including irritability, anxiety, and nonfatal suicidal behavior. We discuss other potential causes of mood disturbance that are important to screen for after TBI, including depression, anxiety, and hypothalamic-pituitary axis disorders. Rehabilitation medicine providers need to be aware of PMDD in postpubertal female patients with TBI because it can lead to nonfatal suicidal behaviors.

Level of Evidence

V  相似文献   

5.
6.

Background

The term self-determination refers to decision-making, goal setting, and perseverance to achieve those goals. Numerous studies have established the importance of self-determination to enhance learning and improve postschool outcomes. However, most studies evaluate students with learning disabilities, cognitive impairment, or behavioral disabilities. There is an absence of research on self-determination for adolescents with physical disabilities.

Objective

To assess self-determination of adolescents with neonatal brachial plexus palsy (NBPP) compared with their typically developing peers via self-reported measures of function.

Design

Case-control study.

Setting

Brachial plexus clinic.

Participants

Twenty adolescents with NBPP (aged 10-17 years) and their parents and 20 age/gender-matched typically developing adolescents and their parents were recruited. Non–English-speaking participants and those with other physical impairments were excluded from study.

Methods

Participants completed demographic and American Institutes for Research (AIR) self-determination surveys. One of two designated occupational therapists evaluated participant physical function.

Main Outcome Measurements

A demographic survey and AIR self-determination assessment were administered, and active range of motion measurements in shoulder forward flexion, elbow flexion, elbow extension, forearm pronation, and supination were obtained. Grip/pinch strength, MRC muscle strength, 9-Hole Peg Test, and Mallet scale scores also were evaluated.

Results

Despite physical differences, adolescents with NBPP presented similar self-determination levels as their typically developing peers. Adolescents with NBPP rated their opportunities to engage in self-determined behaviors at school significantly lower than at home. Both adolescents with NBPP and those in the control group rated their opportunities to engage in self-determined behaviors at school significantly lower than at home.

Conclusions

Adolescents with NBPP presented similar self-determination scores as their age/gender-matched typically developing peers. These results could be a reflection of our program’s patient- and family-centered care approach. Therefore, caregivers and providers should encourage personal development and fulfillment in adolescents with NBPP. Teachers and schools should be aware that opportunities for acquiring self-determination skills might be more limited at school than at home in this age group.

Level of Evidence

III  相似文献   

7.
Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder caused by the deposition of abnormal proteins in neurons of the basal ganglia that limit motor ability, resulting in disability and reduced quality of life. So far, no pharmacologic therapy has been developed, and the treatment remains symptomatic. The aim of the present study is to perform a systematic investigation of the literature, and to determine the types and effects of rehabilitative interventions used for PSP. A search of all studies was conducted in MEDLINE/PubMed, the Cochrane Central Register of Controlled Trials, CINAHL, and EMBASE. Twelve studies were identified, including 6 case reports, 3 case series, one case-control study, one quasi?randomized trial (i.e. not truly random) with crossover design, and one randomized controlled trial, with 88 patients investigated overall. Rehabilitative interventions varied in type, number, frequency, and duration of sessions. The most commonly used clinical measures were the Progressive Supranuclear Palsy Rating Scale (PSPRS) and Unified Parkinson's Disease Rating Scale (UPDRS). Physical exercises were the main rehabilitative strategy but were associated with other interventions and rehabilitative devices, in particular treadmill and robot-assisted gait training. All studies showed an improvement in balance and gait impairment with a reduction of falls after rehabilitation treatment. Because of poor methodological quality and the variety of rehabilitative approaches including different and variable strategies, there was insufficient evidence of the effectiveness of any specific rehabilitation intervention in PSP. Despite this finding, rehabilitation might improve balance and gait, thereby reducing falls in PSP patients.

Level of Evidence

IV  相似文献   

8.
9.

Background

There is a growing interest in the use of biologic agents such as platelet-rich plasma and mesenchymal stem/stromal cells to treat musculoskeletal injuries, including meniscal tears. Although previous research has documented the role of diagnostic ultrasound to evaluate meniscal tears, sonographically guided (SG) techniques to specifically deliver therapeutic agents into the meniscus have not been described.

Objective

To describe and validate SG injection techniques for the body and posterior horn of the medial and lateral meniscus.

Design

Prospective, cadaveric laboratory investigation.

Setting

Academic institution procedural skills laboratory.

Subjects

Five unenbalmed cadaveric knee-ankle-foot specimens from 5 donors (3 female and 2 male) ages 33-92 years (mean age 74 years) with body mass indices of 21.1-32.4 kg/m2 (mean 24.1 kg/m2).

Methods

A single, experienced operator completed SG injections into the bodies and posterior horns of the medial and lateral menisci of 5 unenbalmed cadaveric knees using colored latex and a 22-gauge, 38-mm needle. After injection, coinvestigators dissected each specimen to assess latex distribution within the menisci and identify injury to intra-articular and periarticular structures.

Main Outcome Measures

Latex location within the target region of meniscus (accurate/inaccurate), and iatrogenic injury to “at risk” intra- and periarticular structures (present/absent).

Results

Seventeen of 20 injections were accurate. Two of 3 inaccurate injections infiltrated the posterior horn of the medial meniscus instead of the targeted meniscal body. One inaccurate lateral meniscus injection did not contain latex despite sonographically accurate needle placement. No specimen exhibited injury to regional neurovascular structures or intra-articular hyaline cartilage.

Conclusions

SG meniscus injections are feasible and can accurately and safely deliver injectates such as regenerative agents into bodies and posterior horns of the medial and lateral menisci. The role of SG intrameniscal injections in the treatment of patients with degenerative and traumatic meniscal disorders warrants further exploration.

Level of Evidence

Not applicable.  相似文献   

10.
Meniscocapsular separation describes detachment of the meniscus from the knee joint capsule. Diagnosis is challenging with conventional examination and imaging methods. We report a case of an 18-year-old female softball catcher with unrevealing magnetic resonance imaging despite continued left knee locking and discomfort with deep squatting. Meniscocapsular separation was revealed only on dynamic sonographic examination, where knee flexion revealed a 3.1-mm gap that developed between the capsule and peripheral meniscus. Arthroscopy confirmed the sonographic findings, and repair resulted in complete resolution of symptoms. This case highlights the utility of dynamic diagnostic sonography in a rare case of posterior lateral meniscocapsular separation.

Level of Evidence

V  相似文献   

11.
12.
Spinal cord stimulation is used in the treatment of a variety of pain conditions. Lead migration is among the most common complications associated with spinal cord stimulation. Although there have been reports of caudal lead migration, there have been no reports of significant cephalad lead migration during a spinal cord stimulation trial. Here we report what is potentially the first case of significant cephalad lead migration (from the initial T8 position to C2) during a spinal cord stimulation trial. This case demonstrates that significant lead migration is possible, and this case highlights the importance of adequately securing leads during a trial.

Level of Evidence

V  相似文献   

13.

Background

AbobotulinumtoxinA has beneficial effects on spasticity and active movements in hemiparetic adults with upper limb spasticity (ULS). However, evidence-based information on optimal dosing for clinical use is limited.

Objective

To describe joint-specific dose effects of abobotulinumtoxinA in adults with ULS.

Design

Secondary analysis of a phase 3 study (NCT01313299).

Setting

Multicenter, international, double-blind, placebo-controlled clinical trial.

Participants

A total of 243 adults with ULS >6 months after stroke or traumatic brain injury, aged 52.8 (13.5) years and 64.3% male, randomized 1:1:1 to receive a single-injection cycle of placebo or abobotulinumtoxinA 500 U or 1000 U (total dose).

Methods

The overall effects of injected doses were assessed in the primary analysis, which showed improvement of angles of catch in finger, wrist, and elbow flexors and of active range of motion against these muscle groups. This secondary analysis was performed at each of the possible doses received by finger, wrist, and elbow flexors to establish possible dose effects.

Main Outcome Measures

Angle of arrest (XV1) and angle of catch (XV3) were assessed with the Tardieu Scale, and active range of motion (XA).

Results

At each muscle group level (finger, wrist, and elbow flexors) improvements in all outcome measures assessed (XV1, XV3, XA) were observed. In each muscle group, increases in abobotulinumtoxinA dose were associated with greater improvements in XV3 and XA, suggesting a dose-dependent effect.

Conclusions

Previous clinical trials have established the clinical efficacy of abobotulinumtoxinA by total dose only. The wide range of abobotulinumtoxinA doses per muscle groups used in this study allowed observation of dose-dependent improvements in spasticity and active movement. This information provides a basis for future abobotulinumtoxinA dosing recommendations for health care professionals based on treatment objectives and quantitative assessment of spasticity and active range of motion at individual joints.

Level of Evidence

I  相似文献   

14.

Background

For the majority of patients, spinal surgery is an elective treatment. The decision as to whether and when to pursue surgery is complicated and influenced by myriad factors, including pain intensity and duration, impact on functional activities, referring physician recommendation, and surgeon preference. By understanding the factors that lead a patient to choose surgery, we may better understand the decision-making process, improve outcomes, and provide more effective care.

Objective

To investigate the relationship between patient-reported outcome measures (PROMs) at initial physiatry clinic consultation and subsequent decision to pursue surgical treatment. We hypothesized that measures of function, pain, and mental health might identify which patients eventually elect to pursue surgical management.

Design

Retrospective chart review study.

Setting

Physiatry spine clinic in a tertiary hospital.

Patients

A total of 395 consecutive patients meeting our inclusion criteria were assessed for the presence of chronic pain, self-perceived disability, history of prior spinal surgery, and provision of chronic opioid therapy at the time of their initial visit to the integrated spine clinic.

Methods

Retrospective chart review of all patients presenting to our spine clinic between August 1, 2014, and July 31, 2015, was performed. At the initial spine clinic consultation, patients were asked to complete the General Anxiety Disorder?7 (GAD-7), Patient Health Questionnaire?8 (PHQ-8), Oswestry Disability Index (ODI), and Patient-Reported Outcomes Measurement Information System (PROMIS) 10-item short-form questionnaire. The primary outcome was surgical intervention within 18 months from their first visit to the integrated spine clinic. We surveyed all patient records until February 2017 for CPT codes associated with spinal surgery, excluding from analysis those patients who were lost to follow-up within 1 year of the index visit. Analysis focused on the risk of spinal surgery, with data points treated as both continuous and categorical variables. We used logistic regression models to determine whether PROMs, either alone or in combination, predicted later decision to pursue surgical intervention.

Main Outcome Measurements

Decision to pursue spinal surgery.

Results

The baseline PROM scores spanning functional, mental health, and pain domains were collected for 94% of the patients presenting to our spine program during the interval of this study. In total, 146 patients were excluded because of missing patient-reported outcome data or less than 1 year of follow-up, leaving 395 patients for analysis. Of these, 40.3% were male with a median age of 58 years, 4.6% presented with a history of prior spinal surgery, and 3.8% were being treated with chronic opioids at their initial consultation. Male gender (P = .01) and older age (P = .05) were associated with subsequent surgery, but no relationship was observed between measured patient-reported outcomes and decision to undergo spinal surgery within 18 months of the index visit.

Conclusions

Contrary to our hypothesis, this analysis demonstrates that the PROMs evaluated in this study, alone are insufficient to identify patients who may elect to pursue spinal surgery. Male gender and increasing age correlate with decision for later spinal surgery.

Level of Evidence

II  相似文献   

15.
Synovial sarcoma is a slow-growing, intermediate- to high-grade neoplasm with extensive metastatic potential. Accurate diagnosis of synovial sarcoma may pose a challenge to providers because of its indolent growth and variable presentation. The findings of a soft-tissue, periarticular mass with calcifications in a young patient are highly suggestive of synovial sarcoma. Although different imaging modalities can aid in the diagnosis of synovial sarcoma, diagnostic certainty is typically only confirmed by biopsy and histologic analysis. We present a case describing the diagnostic workup of synovial sarcoma with an emphasis on imaging findings in a patient with increasing symptomatology spanning more than a decade.

Level of Evidence

V  相似文献   

16.
Posterosuperior impingement (PSI) is an underdiagnosed cause of posterior shoulder pain and should be differentiated from classic and external impingement. PSI involves the internal impingement of soft tissues, including the undersurface of the rotator cuff against the posterosuperior labrum when the arm is brought into abduction and external rotation (ABER). Ultrasonography (US) can be useful in the assessment of PSI because of its high resolution and ability to perform during dynamic maneuvers in ABER. This series of 3 cases illustrates the feasibility of US in the evaluation of PSI when the history and physical examination implicate this condition.

Level of Evidence

V  相似文献   

17.
18.
A case of severe action myoclonus after pulmonary arrest is described. Although there was benefit from oral pharmacotherapy, action myoclonus remained disabling. A favorable response to baclofen during an intrathecal trial led to eventual placement of an intrathecal baclofen pump. The present case illustrates the potential utility of intrathecal baclofen for treating this condition.

Level of Evidence

V  相似文献   

19.
Forty years of clinical experience and peer-reviewed research studies support the use of nonweight-bearing removable rigid dressings (RRDs) as an effective means of postoperative management of transtibial amputations. We reviewed the published medical evidence regarding the use of RRDs as a postoperative management strategy, culminating in an evidence-based practice recommendation. Published peer-reviewed literature on the topic was searched and classified by level of evidence based on the research design using the scale recommended by the PM&R (level I through V). The search uncovered a total of 15 articles, including 5 level I randomized controlled trials, 6 level III retrospective matched controlled trials, and 4 level V case reports.A number of benefits associated with the application of RRDs compared with soft dressings were reported across these 15 studies. These included faster healing times, reduced limb edema, preparatory contouring of the residual limb in anticipation of prosthetic use, the prevention of knee flexion contractures, and reduced external trauma to the limb. Also described were an increased probability of successful prosthetic use and pain reduction. The RRDs studied permitted regular inspection of surgical wounds with greater ease and consistency of application than traditional soft dressing approaches. Rigid dressings provide all the same benefits of RRDs except ease of wound inspection, therefore rendering them impractical for the 82% of patients receiving an amputation for ischemic disease that are at high risk of developing wound dehiscence. Weight-bearing immediate postoperative prostheses are almost exclusively reserved for use on trauma patients who usually do not show evidence of vascular or neurologic impairment. The inherent risks of falls and inconsistent pressure on the surgical wound have further restricted their use in practice to a limited patient type.The benefits of RRDs compared with soft dressings are universally recognized in the published peer-reviewed medical evidence to be superior to soft dressings. Based on the best-available current published evidence, nonweight-bearing removable rigid dressings should be considered the first treatment choice for the postoperative care of transtibial amputees to optimize outcomes with regard to reductions in injury due to falls, knee flexion contractures, edema, healing time, time to prosthetic fitting, and pain.

Level of Evidence

II  相似文献   

20.
Han Gil Seo  Hyun Haeng Lee  Byung-Mo Oh 《PM & R》2018,10(12):1422-1425
Pregnancy is a risk factor for stroke in young women, but the effect of delivery on recovery and rehabilitation after stroke has not been elucidated in pregnant patients with stroke. This case report presents a pregnant patient with stroke who recovered successfully after cesarean delivery during rehabilitation. The possible effect of oxytocin is discussed as a factor promoting recovery from stroke.

Level of Evidence

V  相似文献   

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