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1.
Genet Med ; 25(10): 100924, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37422717

RESUMO

PURPOSE: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome. METHODS: Individuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms' severity on global assessment of functioning (GAF) and QoL. RESULTS: The total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics. CONCLUSION: Quantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.

2.
Clin Spine Surg ; 36(2): E75-E79, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-35994037

RESUMO

STUDY DESIGN: This was a retrospective case series. OBJECTIVE: The objective of this study was to discuss the treatment challenges in scoliosis patients with Rett syndrome (RTT) in a national referral centre for RTT. We describe structural characteristics of curves, age of onset, genetic mutation, ambulation status, and treatment through RTT progression. Based on this unique experience, we aimed to suggest guidelines for scoliosis treatment in RTT patients. SUMMARY OF BACKGROUND DATA: RTT is a neurodevelopmental disorder associated with a mutation in the methyl-CpG binding protein 2 (MECP2) gene, primarily in females with significant features of growth failure, gastrointestinal and pulmonary dysfunction, ataxia, seizures, and intellectual disability. Scoliosis is the most common orthopedic manifestation of RTT and is present in 64%-75% of patients. No clear guidelines for scoliosis treatment in RTT are available, and typically patients are treated according to guidelines of another neuromuscular scoliosis. METHODS: Clinical and radiographic data were gathered, including MECP2 mutation type, scoliosis characteristics, preoperative treatment, surgical treatment, functional status, and postoperative follow-up. RESULTS: Our cohort included 102 patients with RTT. They were 36 who presented with scoliosis; 18 were treated surgically. C-curve was found in 17 patients and S-type in 19. Scoliosis treatment onset was 8.76 years in the C-type group and 13.88 years in the S-type group. The average curve at the time of surgery was 52.42 degrees. The average time until surgery was 2.44 years. Seventeen patients underwent posterior spinal fusion, and 1 patient underwent posterior spinal fusion+anterior spinal fusion with an average correction of 40 degrees. The most common mutation was R255X nucleotide (30% of cases). The most severe curves had mutations R168X and R270X nucleotides. CONCLUSIONS: We advise early monitoring for patients with RTT and scoliosis due to early and rapid progression. Common mutations found were R255X, R168X, R270X, and T158M. We recommend surgical treatment in every curve above 45 degrees, independently of age.


Assuntos
Síndrome de Rett , Escoliose , Feminino , Humanos , Síndrome de Rett/complicações , Síndrome de Rett/genética , Escoliose/complicações , Escoliose/diagnóstico por imagem , Escoliose/genética , Estudos Retrospectivos , Mutação
3.
Ther Adv Neurol Disord ; 15: 17562864221109744, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35813608

RESUMO

Background: The motoric cognitive risk (MCR) syndrome, defined as the coexistence of slow gait and subjective cognitive complaints, has as yet not been researched in people with multiple sclerosis (pwMS). Objective: To examine the prevalence of the MCR syndrome in pwMS and its association with disability, disease duration, perceived fatigue, and fear of falling. Methods: The study comprised 618 pwMS [43.7 (SD = 12.6) years, 61.7% females]. Gait speed was measured by the GAITRite™ electronic walkway (CIR Systems, Inc. Haverton, PA, USA). Cognitive status was defined according to the global cognitive score computed by the NeuroTrax™ cognitive battery (NeuroTrax Corporation, Medina, NY, USA). The sample was divided into four main groups: 'normal', 'cognitively impaired', 'gait impaired' or 'MCR'. Perceived fatigue was assessed by the Modified Fatigue Impact Scale; fear of falling by the Falls Efficacy Scale International. Results: Sixty-three (10.2%) patients were diagnosed with MCR. The percentage of subjects categorized as MCR was 26.0% in severely disabled pwMS compared with 10.9%, 6.0%, and 4.6% in moderately, mildly and very mildly disabled pwMS, respectively. Subjects in the MCR group presented with elevated fatigue compared with patients classified as normal [49.7 (SD = 23.3) vs 26.5 (SD = 19.2), p < 0.001]. Fear of falling was significantly higher in the MCR and gait impairment groups compared with the cognitively impaired and normal groups. Conclusions: The current study corroborates the presence of MCR in pwMS. Nevertheless, future longitudinal research is warranted to better understand its application.

4.
Indian J Orthop ; 56(6): 1090-1095, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35669032

RESUMO

Background: The well-accepted treatment of septic arthritis of the hip joint (SAHJ) is surgical drainage of the joint, but repeated aspirations of the hip joint under sonography, have been used for over twenty years with significant success in some centers, including ours. In recent years, we identified some children who did not respond to aspirations and had to undergo arthrotomies. We were concerned that some children may have reached the operating room after a longer than ideal time. Objective: Identification of the characteristics of patients who did not respond to repeated aspirations and development of a treatment algorithm that expedites decision-making regarding the necessity of surgery. Methods: This is a single-center retrospective cohort analysis. All the patients diagnosed with SAHJ between 2007 and 2019 were identified. Patients who responded to repeated aspirations were compared to those who did not improve and required surgery. Demographic and clinical data and laboratory results were obtained from the patients' electronic medical records. Results: Forty-eight children (88.9%) were treated successfully with repeated aspirations and six children (11.1%) did not improve after aspirations and underwent hip arthrotomies. Five out of 48 children from the aspiration group (10.4%) and 4 out of 6 from the arthrotomy group (66.7%) had chronic comorbidities (p = 0.0051). The mean duration of fever over 38.5 degrees centigrade and the length of stay were higher in the arthrotomy group (p = 0.0040, p = 0.0301, respectively). When we examined the change in C-reactive protein (CRP) levels before and after the first aspiration (Delta CRP), we found a decrease in the aspiration group and an increase in the arthrotomy group (p = 0.0044). Conclusion: The new algorithm which we present allows an expeditious assessment of the patient's response to the repeated aspiration method and thus prevents unnecessary surgeries for the treatment of SAHJ. Patients with chronic comorbidities, prolonged fever, and an increase in CRP level following the first aspiration, are at risk of treatment failure and should be treated with an arthrotomy. Level of evidence for clinical articles: Level 4-cohort study.

5.
Sci Rep ; 12(1): 3653, 2022 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-35256705

RESUMO

Longitudinal data are vital in order to understand intra individual gait changes with the progression of multiple sclerosis (MS). Therefore, the primary aim of this study was to explore the relationship between changes in disability with changes in major spatio-temporal parameters of gait in people with MS (PwMS). PwMS (n = 83) completed two gait assessments performed at separate time points (M1, M2). For each individual, the absolute difference between the Expanded Disability Status Scale (EDSS) score, key spatio-temporal parameters of gait, Falls Efficacy Scale International (FES-I), and the 12-item Multiple Sclerosis Walking Scale (MSWS-12), were calculated. The mean time difference between M1 and M2 was 2.5 (SD = 1.7) years. At M2, PwMS presented with shorter strides, a wider base of support, increased perceived mobility difficulties and fear of falling compared with M1. According to the odds ratio (OR) analysis, the odds of experiencing an increase in the EDSS score was significantly higher once the MSWS-12 score increased at M2 compared with M1 (OR = 7.930, p = 0.004). This observation was highlighted specifically in people with mild-moderate MS (OR = 12.427, p < 0.001). The increase in the EDSS score was not associated with changes in key spatio-temporal parameters of gait. The present study provides a better understanding of gait and disease progression in PwMS, highlighting the significant role of the MSWS-12.


Assuntos
Esclerose Múltipla , Caminhada , Medo , Marcha , Humanos , Esclerose Múltipla/complicações
6.
HSS J ; 18(1): 98-104, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35087339

RESUMO

Background: Femoral derotation osteotomy (FDO) for correction of internal rotation gait resulting from cerebral palsy (CP) can be performed with the patient in the prone or supine position. It is not known whether patient positioning during FDO affects the change in hip rotation. Purpose/Questions: We sought to compare the change in hip rotation following FDO performed on patients with CP in the prone or supine position through kinematic analysis. Methods: We conducted a consecutive retrospective cohort study of children with CP, ages 3 to 18 years and with Gross Motor Function Classification System (GMFCS) levels I to III, who underwent prone or supine FDO and pre- and postoperative motion analysis. The prone group included 37 patients (68 limbs) between 1990 and 1995. The supine group included 26 patients (47 limbs) between 2005 and 2015. The groups were matched for gender, age, and GMFCS level. The primary outcome was hip rotation in degrees during stance phase. Secondary outcomes included temporal-spatial parameters, hip abduction, hip and knee extension, and hip and knee passive range of motion (ROM). Results: The prone group had more bilateral patients (100%) than the supine group (81%). The supine group underwent more concomitant procedures. There was no difference between the prone and supine groups in postoperative stance hip rotation; both groups had significantly improved stance hip rotation, step width, and hip rotation passive ROM, pre- to postoperatively. Prone patients had improved postoperative hip extension, pelvic tilt, velocity, and cadence. Conclusions: There was no significant different in stance hip rotation between supine and prone FDO groups. Advocates of prone positioning for FDO suggest it allows more accurate assessment of rotation. Supine positioning may be more convenient when additional procedures are required. Based on our findings, either approach can achieve the desired result.

7.
J Neurol Sci ; 434: 120155, 2022 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-35091386

RESUMO

BACKGROUND: As immunity against SARS-COV-2 wanes following first and second doses of vaccination, a third dose is administered in several countries around the world. Similarly to the first doses, risks related to vaccination and humoral immune response in patients with multiple sclerosis (MS) need to be assessed. OBJECTIVE: Characterize safety and humoral immune response following the third dose of COVID-19 vaccination in a large cohort of MS patients. METHODS: We assessed the safety of the third dose of the BNT162b2-COVID-19 mRNA vaccination in adult MS patients and evaluated SARS-CoV-2 IgG response. RESULTS: Two hundred and eleven adult MS patients received a third dose of BNT162b2 COVID-19 vaccination. Median follow up time was 66 days from vaccine administration (IQR 54-84). The frequency of any adverse event was 54.5%, with the most common reported adverse events being fatigue, local pain at the injection site, fever and muscle or joint pain. Transient increase in MS symptoms was reported in 3.8% of patients, none of them requiring treatment. The rate of acute relapses treated with IV steroids was 3.3%. In a sub-group of 55 patients, 20 untreated and 35 treated with vaccination-safe disease-modifying treatments, SARS-CoV-2 IgG levels increased 21-fold (median ± SD 21.6 ± 53.05). CONCLUSIONS: The third dose of COVID-19-BNT162b2 vaccine proved safe for MS patients, with no increased risk of relapse activity. Untreated patients and patients treated with vaccination-safe disease-modifying treatments show significant increase in SARS-CoV-2 IgG levels following the third dose of vaccination.


Assuntos
COVID-19 , Esclerose Múltipla , Adulto , Anticorpos Antivirais , Vacina BNT162 , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Humanos , Esclerose Múltipla/tratamento farmacológico , SARS-CoV-2 , Vacinação/efeitos adversos
8.
J Neuroimmunol ; 361: 577746, 2021 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-34655991

RESUMO

Appropriate immune response following COVID-19 vaccination is important in the context of disease-modifying treatments (DMTs). In a prospective cross-sectional study, we determined SARS-COV-2 IgG response up to 6 months following PfizerBNT162b2 vaccination in 414 multiple sclerosis (MS) patients and 89 healthy subjects. Protective response was demonstrated in untreated MS patients (N = 76, 100%), treated with Cladribine (N = 48, 100%), Dimethyl fumarate (N = 35, 100%), Natalizumab (N = 32, 100%), and Teriflunomide (N = 39, 100%), similarly to healthy subjects (N = 89, 97.8%). Response was decreased in Fingolimod (N = 42, 9.5%), Ocrelizumab (N = 114, 22.8%) and Alemtuzumab (N = 22, 86.4%) treated patients. IgG response can help tailor adequate vaccine guidelines for MS patients under various DMTs.


Assuntos
Anticorpos Antivirais/sangue , Vacina BNT162/imunologia , COVID-19/prevenção & controle , Imunidade Humoral/imunologia , Esclerose Múltipla/imunologia , Adulto , Antirreumáticos/uso terapêutico , Estudos Transversais , Feminino , Humanos , Imunoglobulina G/sangue , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Estudos Prospectivos , SARS-CoV-2
9.
Mult Scler ; 27(6): 864-870, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33856242

RESUMO

BACKGROUND: Since vaccination against coronavirus disease 2019 (COVID-19) became available, risks related to vaccinating patients with multiple sclerosis (MS) need to be carefully assessed. OBJECTIVE: Characterize safety and occurrence of immediate relapses following COVID-19 vaccination in a large cohort of MS patients. METHODS: We assessed the safety of BNT162b2 COVID-19 vaccination in adult MS patients. RESULTS: Between 20 December 2020 and 25 January 2021, 555 MS patients received the first dose of BNT162b2 vaccine and 435 received the second dose. There were three cases of COVID-19 infection encountered after the first dose. Safety profile of COVID-19 vaccine was characterized by pain at the injection site, fatigue, and headache. No increased risk of relapse activity was noted over a median follow-up of 20 and 38 days after first and second vaccine doses, respectively. The rate of patients with acute relapse was 2.1% and 1.6% following the first and second doses, respectively, similar to the rate in non-vaccinating patients during the corresponding period. Mild increase in the rate of adverse events was noted in younger patients (18-55 years), among patients with lower disability (Expanded Disability Status Scale (EDSS) ⩽3.0), and in patients treated with immunomodulatory drugs. CONCLUSION: COVID-19 BNT162b2 vaccine proved safe for MS patients. No increased risk of relapse activity was noted.


Assuntos
Vacinas contra COVID-19/efeitos adversos , Vacinas contra COVID-19/uso terapêutico , Esclerose Múltipla/complicações , Vacinação , Adolescente , Adulto , Fatores Etários , Idoso , Vacina BNT162 , COVID-19/complicações , COVID-19/epidemiologia , Estudos de Coortes , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Segurança do Paciente , Recidiva , Adulto Jovem
10.
Clin Spine Surg ; 33(4): E178-E184, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32039991

RESUMO

STUDY DESIGN: Peripheral blood samples were obtained from 25 patients with cervical spondylotic myelopathy (CSM) and 13 healthy volunteers. OBJECTIVES: Our aim was to investigate the significance of neurodegenerative biomarkers in patients with CSM and correlate their expression with CSM severity. SUMMARY OF BACKGROUND DATA: CSM is a common disorder involving chronic progressive compression of the cervical spinal resulting in progressive neurological impairment that ranges from mild tingling in the upper limbs to complete quadriplegia. However, the immunological background related to the neurodegenerative damage and its significance in CSM is still unclear. METHODS: Protein expression profiles of 14 neurodegenerative biomarkers were measured by multiplex Luminex bead assay and further analyzed by group comparison statistics, correlation studies, and receiver-operating characteristic analysis. RESULTS: Eleven of 14 biomarkers were significantly elevated in CSM patients as compared with healthy subjects (P<0.05). Specifically, the clinical severity of CSM on the scales of Nurick and modified Japanese Orthopedics Association scale (mJOA) was inversely related to neural cell adhesion molecule (NCAM) levels (r=-0.529, P=0.007; r=-0.519, P=0.001, respectively). CONCLUSIONS: Serum level of neural cell adhesion molecule may serve as a diagnostic biomarker correlating with the severity of CSM.


Assuntos
Biomarcadores/sangue , Antígeno CD56/sangue , Vértebras Cervicais/fisiopatologia , Doenças da Medula Espinal/sangue , Espondilose/sangue , Adulto , Idoso , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/sangue , Curva ROC , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
11.
J Neural Transm (Vienna) ; 126(12): 1609-1616, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31673926

RESUMO

The objective of the study was to examine the differences in physical activity participation with the pyramidal, cerebellar, and sensory functional systems in people with multiple sclerosis (PwMS). This cross-sectional study included 289 PwMS with a median EDSS of 2.0 (range 0-6.5) and a mean disease duration of 6.8 (SD = 8.4) years. The Godin leisure-time exercise questionnaire (GLTEQ) assessed physical activity participation. The sample was divided into seven groups according to the pyramidal, cerebellar, and sensory functional system scores derived from the EDSS data. Additionally, PwMS were divided into three physical activity subgroups (active, moderately active, and insufficiently active). Furthermore, PwMS were categorized into four levels of disability based on their global Expanded Disability Status Scale (EDSS) score [very mild (0-1.5), mild (2.0-3.5), moderate (4.0-5.5), and severe (6.0-6.5)]. In the physical activity subgroups, 159 (55.0%) were classified as insufficiently active, 59 (20.4%) as moderately active, and 71 (24.6%) as active. Pyramidal, cerebellar, and sensory impairments were demonstrated in 134 (46.4%), 73 (25.3%), and 85 (29.4%) patients, respectively. No differences were found for the GLTEQ scores for all seven functional system groups (P value = 0.168). As for the EDSS disability subgroups, the percentage of active patients (moderately at least) were 60%, 45.8%, 36.5%, and 15.4%, for the very mild, mild, moderate, and severe subgroups, respectively. This study found that participation in leisure-time physical activity is independent from the pyramidal, cerebellar, and sensory functional systems in PwMS.


Assuntos
Ataxia/etiologia , Estudos Transversais , Exercício Físico , Esclerose Múltipla/complicações , Debilidade Muscular/etiologia , Transtornos de Sensação/etiologia , Adulto , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Gait Posture ; 74: 231-235, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31563824

RESUMO

BACKGROUND: Falls, gait variability and increased energy cost of walking are common in people with multiple sclerosis (PwMS). However, no studies have as yet examined this triple association in PwMS or in other neurological populations. RESEARCH QUESTION: Does a relationship exist between gait variability, falls and the energy cost of gait in PwMS? METHODS: This cross sectional study included 88 PwMS (50 women), mean age 39.8 (S.D = 13.0) and mean disease duration of 6.2 (SD = 8.2) years since diagnosis. Energy expenditure during walking was collected via a portable metabolic device (COSMED K5, COSMED Srl, Roma, Italy). Gait variability was measured by an electronic walkway (GAITRite™). Participants were divided into groups based on fall history (fallers and non-fallers). Differences between groups in terms of energy expenditure measures and gait variability metrics were determined by the analysis of variance test. The relationship between gait variability and energy cost of walking was examined by the Pearson's correlation coefficient test. RESULTS: Thirty-three PwMS were classified as fallers and 55 as non-fallers. Non-significant differences between groups were observed in the energy expenditure measures, including cost of walking. Fallers demonstrated higher step length variability compared with non-fallers (4.58 (S.D. = 2.42 vs. 3.40 (S.D. = 1.40); p-value = 0.005). According to the Pearson's correlation coefficient analysis, a significant relationship was found between step length variability and energy cost of walking in the non-fallers group (Rho = 0.372, P-value = 0.006) and the total group (Rho = 0.296, p-value = 0.005), but not in those PwMS with a history of falls. SIGNIFICANCE: We demonstrated a significant relationship between increased gait variability and energy expenditure while walking only in MS patients without a history of falls. This is important as there is evidence of the clinical relevance of increased gait variability, poor fitness level and high risk of falling in the MS population.


Assuntos
Acidentes por Quedas/prevenção & controle , Marcha/fisiologia , Esclerose Múltipla/fisiopatologia , Caminhada/fisiologia , Adulto , Estudos Transversais , Teste de Esforço , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações
13.
J Pediatr Orthop B ; 28(6): 536-541, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31361706

RESUMO

Displaced supracondylar fractures of the humerus (SCFH) require surgical treatment, most commonly closed reduction with pin fixation. Postoperative displacement following pin fixation is uncommon. Routinely, an early follow-up visit with a radiograph was recommended after fixation of SCFH. The aim of this study was to examine the rate of displacement of SCHF treated with pin fixation using objective radiologic measurements and to determine the need for the early follow-up radiographs. We retrospectively reviewed 161 patients with displaced SFCH treated surgically. The primary outcome measure was loss of reduction (LOR). We examined patient and fracture characteristics and postoperative complications. LOR was defined as a change of 5° or more in measurement of Bauman's angle or the lateral capitellohumeral angle. After applying exclusion criteria, the study group consisted of 131 patients; 87 (66.4%) were male; the left limb was involved in 76 patients (58%); 98 were classified as Gartland type 3 (74.8%); 118 patients had extension type fractures (90%); complications included nerve injury in 32 patients (24.4%), mostly involving the ulnar nerve (17, 13%). Pin-tract infection occurred in four patients (3%). LOR was found in five patients (3.8%). In all these patients, there was evidence of inadequate fixation in the intraoperative radiographs. When adequate fixation is obtained intraoperatively, the next follow-up radiograph is recommended after 3 weeks, at the time of pin removal.


Assuntos
Fixação Interna de Fraturas/tendências , Fraturas do Úmero/diagnóstico por imagem , Fraturas do Úmero/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Fixação Interna de Fraturas/efeitos adversos , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/etiologia , Radiografia/métodos , Radiografia/tendências , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
14.
Clin Neuroradiol ; 29(4): 639-644, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30140937

RESUMO

PURPOSE: The difficult differentiation between multiple sclerosis (MS) lesions and cervical spondylotic myelopathy (CSM) in the cervical spine is well known. The magnetic resonance imaging (MRI) appearance of both lesions is similar, and clinical parameters are usually used for diagnosis. The objective was to establish a reliable radiologic paradigm for diagnosis of demyelinating lesions in the cervical spine. METHODS: The MRI studies of 33 patients with MS (42 lesions) and 55 patients with CSM (60 lesions) were obtained. Lesions were evaluated for vertebral level, lesion location and size in the sagittal and axial planes, cord thickness, well-defined or ill-defined borders, presence of edema and enhancement with gadolinium. Significant differences were used to create a paradigm, which was used for the evaluation of a different group of 32 MRIs with 42 concomitant MS and CSM lesions. RESULTS: Significant differences were seen in the level, location within the cord in both planes, lesion size, cord thickness and lesion border. The MS lesions were well-defined lesions found in C1-3, posterior in the sagittal plane, central in the axial plane, with a normal or increased cord thickness. Good agreement was seen in the validation stage. CONCLUSION: The new CSM-MS lesion score allows accurate diagnosis of demyelinating lesions in the cervical spine vs. CSM lesions.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Esclerose Múltipla/diagnóstico por imagem , Doenças da Medula Espinal/diagnóstico por imagem , Espondilose/diagnóstico por imagem , Adulto , Vértebras Cervicais/patologia , Meios de Contraste , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/patologia , Diagnóstico Diferencial , Feminino , Gadolínio , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Doenças da Medula Espinal/patologia , Espondilose/patologia
15.
Gait Posture ; 65: 33-38, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30558943

RESUMO

BACKGROUND: There is a consensus that physical activity is imperative for people with MS (PwMS). However, regardless of the benefits, many PwMS do not participate in any meaningful physical activity. AIM: To examine the relationship between leisure-time physical activity with clinical characteristics and common symptoms in PwMS. METHODS: The sample included 190 PwMS (107 women), mean age 40.8 (S.D = 13.1) and mean disease duration of 6.4 (SD = 8.3) years since diagnosis. Outcome measures included the Godin Leisure-Time Exercise Questionnaire (GLTEQ), Four Square Step Test (FSST), 2-Minute Walk test (2 mWT), Timed Up and Go test (TUG), Timed 25-Foot Walk test (T25FW), fall status, Falls Efficacy Scale International (FES-I), Modified Fatigue Impact Scale (MFIS), walking speed and the Multiple Sclerosis Walking Scale self-reported questionnaire (MSWS-12). RESULTS: Eighty-six PwMS were classified as active (GLTEQ = 31.6 (S.D = 16.7); 104 were insufficiently active (GLTEQ = 3.0 (S.D = 4.3). Insufficiently active PwMS demonstrated a slower walking speed, elevated fatigue, more concerns of falling and additional walking difficulties compared to active PwMS. Non-significant differences between groups were observed in the TUG, 2 mWT, FSST, T25FWT and fall status. According to the linear regression, by utilizing the FES-I we observed a 12.2% variance related to leisure-time physical activity. The independent variables: EDSS, MSWS-12, fatigue and walking speed were non-significant. SIGNIFICANCE: The present findings highlight the impact of concern of falling on physical activity in PwMS. This knowledge may represent an opportunity to improve care and enhance physical activity in the MS population.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Exercício Físico/psicologia , Medo/psicologia , Atividades de Lazer/psicologia , Esclerose Múltipla/fisiopatologia , Adulto , Estudos Transversais , Bases de Dados Factuais , Teste de Esforço/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/psicologia , Equilíbrio Postural , Inquéritos e Questionários , Caminhada/fisiologia , Velocidade de Caminhada/fisiologia
17.
J Neural Transm (Vienna) ; 125(6): 945-952, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29350300

RESUMO

The objective of the study was to determine if cognitive function is associated with step time variability in people with multiple sclerosis (PwMS). The study included 355 PwMS (218 women), average age 41.1 (SD = 13.5), disease duration 5.9 (SD = 7.3) years, and a median expanded disability status scale score of 2.5. We separately analyzed the sample group of fallers and non-fallers based on their fall history. Gait variability was measured by an electronic walkway and all participants completed a computerized cognitive test battery designed to evaluate multiple cognitive domains. Fallers (43.7%) demonstrated elevated step time variability (%CV), 5.0 (SD = 3.4) vs. 3.5 (SD = 1.6), P < 0.001 compared to the non-faller subjects. According to the regression analysis in the non-fallers' group, step time variability was found significantly associated with the global cognitive score (P = 0.001), executive function subcategory (P = 0.038), and motor skills subcategory (P < 0.001). No relationship between step time variability and any cognitive domain was demonstrated in the faller group. This study illustrated that the association between gait variability and cognition occurs only in PwMS without a fall history. From a clinical standpoint, these findings might help medical professionals to create improved assessment tests and rehabilitation strategies in the MS population.


Assuntos
Acidentes por Quedas , Cognição/fisiologia , Transtornos Neurológicos da Marcha/etiologia , Marcha/fisiologia , Esclerose Múltipla/complicações , Adulto , Estudos Transversais , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
18.
Mult Scler Relat Disord ; 17: 202-206, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29055458

RESUMO

The extent of an increase from a preferred walking speed (PWS) to a fast walking speed (FWS) is defined as the walking speed reserve (WSR). The WSR is unique as it reflects an individual's ability to increase their walking speed on demand. The primary objective of this study was to examine whether the WSR was more advantageous than the PWS and FWS in terms of reflecting mobility deficits and risk of falling associated with multiple sclerosis (MS). The patient group included 235 people with MS (PwMS) (139 women) with a mean age of 43.6 (SD = 13.6) years. The WSR, PWS and FWS (m/s) were: 0.47 (SD = 0.29), 0.98 (SD = 0.28) and 1.45 (SD = 0.47), respectively. Significant correlation scores were found between the WSR and all clinical walking and balance outcome measures; Pearson's rho ranged from 0.240 to 0.517. However, stronger correlation scores were found between the PWS, FWS and all clinical walking and balance outcome measures with the Pearson's rho ranging from 0.415 to 0.797. In terms of fall status, non-significant differences were observed between the fallers (n = 133) and non-fallers' (n = 102) groups with respect to the WSR scores. We found that the PWS and FWS were more instructive measures for assessing mobility deficits and fall status in PwMS than the WSR. Nevertheless, we do not rule out the possibility that the WSR score may be a preferred predictor of other adverse events related to MS, such as lower limb muscle weakness, spasticity and aerobic capacity.


Assuntos
Acidentes por Quedas , Limitação da Mobilidade , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/fisiopatologia , Velocidade de Caminhada , Adulto , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Teste de Caminhada
19.
Eur J Phys Rehabil Med ; 53(6): 841-847, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28290192

RESUMO

BACKGROUND: The importance of mobility impairments in people with multiple sclerosis (PwMS) denotes a need for valid, reliable, sensitive and feasible clinical measuring tools. The Timed Up-and-Go (TUG) test is a unique mobility measure as it captures other functions apart from walking, i.e., rising out of a chair or turning around an object. AIM: To expand the construct validity of the TUG test in PwMS and determine the ability of the TUG score to discriminate between four levels of disability between fallers, recurrent fallers and non-fallers. DESIGN: Cross-sectional. SETTING: Multiple Sclerosis Center, Sheba Medical Center, Israel. POPULATION: A total of 285 PwMS (176 women) with a mean disease duration of 8.1±8.1 years. METHODS: We retrospectively evaluated and analyzed computerized data of the TUG test, Four Square Step Test (FSST), posturography measures, 2-minute Walk Test (2mWT), Timed 25-foot Walk Test, fall status, Falls Efficacy Scale - International, Modified Fatigue Impact Scale, instrumented cognitive assessment, and the Multiple Sclerosis Walking Scale self-reported questionnaire. RESULTS: The TUG score of the total sample was 9.3±5.1. In terms of the disability subgroups, significant differences were observed between the four groups with the exception of "very mild" to "mild" groups. In terms of fall status, the MS recurrent fallers demonstrated a significantly slower TUG compared to the MS non-fallers. Strong-modest significant correlation scores were found between the TUG and ambulation tests. The strongest scores were found for the FSST and 2MWT; Pearson's r=0.740, -0.731, respectively. CONCLUSIONS: The current study broadens the evidence supporting the usage of the TUG test to assess walking and balance performance in PwMS regardless of the patient's cognitive status. Furthermore, the test can aid in identifying PwMS who are at a high risk of falling. CLINICAL REHABILITATION IMPACT: The TUG test is an excellent tool used to assess mobility capabilities in PwMS, monitor disease progression and identify potential MS fallers.


Assuntos
Acidentes por Quedas , Atividade Motora/fisiologia , Esclerose Múltipla/fisiopatologia , Equilíbrio Postural/fisiologia , Caminhada/fisiologia , Adulto , Estudos Transversais , Teste de Esforço , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos
20.
Curr Opin Pediatr ; 29(1): 65-69, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27798427

RESUMO

PURPOSE OF REVIEW: Spastic hip dysplasia (SHD) is a common finding in patients with cerebral palsy, with a higher incidence in more involved patients, causing disability and reducing quality of life in these patients. SHD is the most serious orthopedic problem seen in cerebral palsy patients, and requires special attention and tenacious evaluation of the patients. The aim of this article is to review the new developments in the treatment of SHD. RECENT FINDINGS: Patients with cerebral palsy were shown to have better hip joint morphology when they had access to hip surveillance programmes, with proactive search of patients with progressing hip subluxation and early intervention. Prediction of progression of SHD is now available based on the experience of these programmes.Patients who underwent hip joint reconstruction showed that incongruent joints remodeled following a Dega osteotomy. Patients who underwent a varus osteotomy of the femoral neck without pelvic reconstruction had a higher rate of recurrence when they were older and the SHD was more severe. Health-related quality of life measures improved following hip joint reconstructions and salvage procedures. CONCLUSION: Patients with cerebral palsy should be monitored with a well-defined hip surveillance programme, with early identification and timely intervention for SHD.


Assuntos
Paralisia Cerebral/complicações , Luxação do Quadril/diagnóstico , Luxação do Quadril/terapia , Assistência ao Convalescente , Artroplastia de Quadril , Tratamento Conservador , Diagnóstico Precoce , Luxação do Quadril/etiologia , Humanos , Osteotomia , Modalidades de Fisioterapia , Qualidade de Vida , Terapia de Salvação , Resultado do Tratamento
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