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1.
Knee ; 47: 171-178, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38401341

RESUMO

BACKGROUND: Physical function and knee kinematics recovery after discoid lateral meniscus (DLM) tear surgery are essential for a better prognosis. However, these alterations remain unclear. Therefore, this study aimed to investigate changes in physical function and knee kinematics following saucerization and DLM tear repair. METHODS: We enrolled 16 patients who underwent saucerization and DLM tear repair. Postoperative changes in knee kinematics during gait, and physical function, were evaluated at 3, 6, and 12 months. RESULTS: The peak flexion angle of the operated limb during weight acceptance was significantly higher than that of the contralateral limb at 3 (operated limb: 34.6 ± 8.9°, contralateral limb: 23.7 ± 8.3°; P < 0.01) and 6 months (operated limb: 32.1 ± 9.7°, contralateral limb: 24.6 ± 8.2°; P = 0.03) postoperatively, but not at 12 months (operated limb: 27.1 ± 7.1°, contralateral limb: 23.1 ± 9.5°; P = 0.22) postoperatively. The knee extensor strength of the operated limb was significantly lower than that of the contralateral limb at 3 (operated limb: 1.00 ± 0.59 Nm/kg, contralateral limb: 1.37 ± 0.59 Nm/kg; P = 0.01), 6 (operated limb: 1.22 ± 0.55 Nm/kg, contralateral limb: 1.48 ± 0.60 Nm/kg; P < 0.01), and 12 months (operated limb: 1.39 ± 0.57 Nm/kg, contralateral limb: 1.55 ± 0.64 Nm/kg; P = 0.04) postoperatively. CONCLUSION: Knee extension deficits and extensor weakness persisted at 6 months after saucerization and repair of DLM tears. Postoperative rehabilitation should be focused on knee extension function.


Assuntos
Marcha , Amplitude de Movimento Articular , Lesões do Menisco Tibial , Humanos , Lesões do Menisco Tibial/cirurgia , Lesões do Menisco Tibial/fisiopatologia , Masculino , Feminino , Adulto , Marcha/fisiologia , Amplitude de Movimento Articular/fisiologia , Pessoa de Meia-Idade , Fenômenos Biomecânicos , Articulação do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Debilidade Muscular/fisiopatologia , Debilidade Muscular/etiologia , Recuperação de Função Fisiológica , Adulto Jovem , Meniscos Tibiais/cirurgia , Meniscos Tibiais/fisiopatologia
2.
J Sport Health Sci ; 13(3): 419-427, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38219958

RESUMO

BACKGROUND: Pediatric cancer survivors are at increased risk of muscle weakness and low areal bone mineral density (aBMD). However, the prevalence of muscle strength deficits is not well documented, and the associations of muscle strength with aBMD are unknown in this population. Therefore, this study aimed to investigate the prevalence of upper- and lower-body muscle strength deficits and to examine the associations of upper- and lower-body muscle strength with age-, sex, and race-specific aBMD Z-scores at the total body, total hip, femoral neck, and lumbar spine. METHODS: This cross-sectional study included 116 pediatric cancer survivors (12.1 ± 3.3 years old, mean ± SD; 42.2% female). Upper- and lower-body muscle strength were assessed by handgrip and standing long jump test, respectively. Dual­energy X­ray absorptiometry was used to measure aBMD (g/cm2). Associations between muscle strength and aBMD were evaluated in multivariable linear regression models. Logistic regression was used to evaluate the contribution of muscle strength (1-decile lower) to the odds of having low aBMD (Z-score ≤ 1.0). All analyses were adjusted for time from treatment completion, radiotherapy exposure, and body mass index. RESULTS: More than one-half of survivors were within the 2 lowest deciles for upper- (56.9%) and lower- body muscle strength (60.0%) in comparison to age- and sex-specific reference values. Muscle strength deficits were associated with lower aBMD Z-scores at all sites (B = 0.133-0.258, p = 0.001-0.032). Each 1-decile lower in upper-body muscle strength was associated with 30%-95% higher odds of having low aBMD Z-scores at all sites. Each 1-decile lower in lower-body muscle strength was associated with 35%-70% higher odds of having low aBMD Z-scores at total body, total hip, and femoral neck. CONCLUSION: Muscle strength deficits are prevalent in young pediatric cancer survivors, and such deficits are associated with lower aBMD Z-scores at all sites. These results suggest that interventions designed to improve muscle strength in this vulnerable population may have the added benefit of improving aBMD.


Assuntos
Densidade Óssea , Sobreviventes de Câncer , Força da Mão , Força Muscular , Humanos , Feminino , Masculino , Estudos Transversais , Densidade Óssea/fisiologia , Criança , Adolescente , Força Muscular/fisiologia , Força da Mão/fisiologia , Absorciometria de Fóton , Colo do Fêmur , Debilidade Muscular/fisiopatologia , Debilidade Muscular/etiologia
3.
Acta Orthop ; 93: 11-28, 2022 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-34607499

RESUMO

Background and purpose - After initial clubfoot correction through Ponseti treatment, recurrence rates range from 26% to 48%. Even though various factors have been associated with increased recurrence risk, systematic assessments of the prognostic capacity of recurrence risk factors and their clinical relevance are lacking. Therefore we assessed clinically relevant prognostic factors for recurrent idiopathic clubfoot deformity after initial correction through Ponseti treatment. Methods - PubMed, Embase, Cinahl, and Web of Science were systematically searched for studies investigating the association between clinically relevant factors and recurrence rates. Prognostic factors were qualitatively assessed and included in the meta-analysis if ≥ 2 studies investigated the same factor and methods were comparable. Results - 34 articles were included in the qualitative synthesis, of which 22 were also included in the meta-analysis. Meta-analysis revealed that poor evertor muscle activity (OR = 255, 95% CI 30-2,190), brace non-compliance (OR = 10, CI 5-21), no additional stretching (OR = 31, CI 10-101), more casts (OR = 3.5, CI 1.6-7.8), lower education level of parents (OR = 1.8, CI 1.2-2.6), non-marital status of parents (OR = 1.8, CI 1.1-3.0), and higher Dimeglio scores (OR = 1.9, CI 1.2-3.3) were associated with higher recurrence rates. Interpretation - Brace non-compliance and poor evertor muscle activity have been identified as main recurrence risk factors and are therefore important to be closely monitored during clinical follow-up of clubfoot patients. Adding additional stretching during the bracing protocol might be promising in the quest to prevent relapse, but scientific evidence for clear clinical treatment recommendations is still limited.


Assuntos
Pé Torto Equinovaro/terapia , Prevenção Secundária/métodos , Braquetes , Moldes Cirúrgicos , Terapia Combinada , Humanos , Debilidade Muscular/fisiopatologia , Cooperação do Paciente , Prognóstico , Procedimentos de Cirurgia Plástica/métodos , Recidiva , Fatores de Risco , Índice de Gravidade de Doença
4.
Cancer Med ; 11(2): 308-316, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34894098

RESUMO

BACKGROUND: Low muscle strength has been pointed out as a key characteristic of sarcopenia, but the prognostic significance of muscle function next to reduced skeletal muscle mass (SMM) in patients with cancer has been scantily investigated. METHODS: Data on muscle strength by handgrip (HG) dynamometry and total-body SMM estimated by bioelectrical impedance analysis (BIA) of Italian and German patients with cancer observed prospectively until death or censoring were analysed (N = 1076). Patients were stratified in four risk categories based on low HG (<10th percentiles of age and gender-specific normative values) and low total-body SMM according to SMM index cutoffs (<10.75 and <6.75 kg/m2 in men and women, respectively). RESULTS: During a median follow-up of 58 months [25th-75th percentile, 37-60], 566 patients had died. Patients presenting low HG in combination or not with low SMM were characterised by shorter median survival (12.7 vs. 27.2 months, respectively; p < 0.001) compared to those with low SMM/normal HG and normal SMM/normal HG (>60 months for both). After adjusting for sex, age, body mass index and percentage of weight loss, disease's stage, performance status and type of cancer, compared to reference category (normal HG and SMM; N = 210) the hazard ratios were: low SMM/normal HG (N = 342), 0.83 [95% confidence interval, CI, 0.67-1.02] (p = 0.073); normal SMM/low HG (N = 158), 1.19 [95% CI, 1.07-1.32] (p = 0.002); low SMM/low HG (N = 366), 1.39 [95% CI, 1.27-1.53] (p < 0.001). CONCLUSIONS: Muscle weakness was found to be a more powerful predictor of survival than BIA-estimated SMM and should be considered as an additional key feature of sarcopenia in patients with cancer.


Assuntos
Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Neoplasias/mortalidade , Sarcopenia/fisiopatologia , Idoso , Impedância Elétrica , Feminino , Alemanha , Força da Mão , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Neoplasias/complicações , Prognóstico , Modelos de Riscos Proporcionais , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Medição de Risco/métodos
5.
Eur J Med Res ; 26(1): 135, 2021 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-34836551

RESUMO

BACKGROUND: To date, the histopathologic characteristics of dropped head syndrome (DHS) have not been reported sufficiently. The present study investigates the histopathology of biopsy specimens from the cervical paravertebral region in patients with DHS. METHODS: Histopathological parameters were evaluated in biopsy specimens of the cervical paravertebral soft tissue from 15 patients with DHS. RESULTS: Among the 15 cases of DHS examined, skeletal muscle was identified in 7 cases, all of which showed necrosis, microvessel proliferation and atrophy. The ligament was identified in 12 cases, 8 of which showed degeneration. The lag time between the onset of symptoms and the performance of a biopsy in all 8 cases, which showed degeneration was over 3 months. Microvessel proliferation in the ligament was observed in 1 of the 4 cases, in which the lag time between the onset of symptoms and the performance of a biopsy was less than 3 months (acute or subacute phase), and in 7 of the 8 cases, in which the lag time between the symptoms and the performance of a biopsy was over 3 months (chronic phase). Chronic inflammation in the ligament was identified in 1 of the 12 cases. CONCLUSIONS: The identification of necrosis, microvessel proliferation, and atrophy in the skeletal muscle of patients with DHS and the presence of ligament degeneration and microvessel proliferation in the chronic but not acute or subacute phases may suggest that persistent skeletal muscle damage of the cervical paravertebral region causes subsequent ligament damage in patients with DHS.


Assuntos
Vértebras Cervicais/patologia , Debilidade Muscular/diagnóstico , Doenças Musculares/diagnóstico , Músculos do Pescoço/patologia , Idoso , Idoso de 80 Anos ou mais , Biópsia , Vértebras Cervicais/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Doenças Musculares/patologia , Doenças Musculares/fisiopatologia , Músculos do Pescoço/diagnóstico por imagem , Músculos do Pescoço/fisiopatologia , Estudos Retrospectivos , Síndrome
6.
J Am Heart Assoc ; 10(13): e021030, 2021 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-34212761

RESUMO

Background The activation of AT2 (angiotensin II type 2 receptor ) and Mas receptor by angiotensin II and angiotensin-(1-7), respectively, is the primary process that counteracts activation of the canonical renin-angiotensin system (RAS). Although inhibition of canonical RAS could delay the progression of physiological aging, we recently reported that deletion of Mas had no impact on the aging process in mice. Here, we used male mice with a deletion of only AT2 or a double deletion of AT2 and Mas to clarify whether these receptors contribute to the aging process in a complementary manner, primarily by focusing on aging-related muscle weakness. Methods and Results Serial changes in grip strength of these mice up to 24 months of age showed that AT2/Mas knockout mice, but not AT2 knockout mice, had significantly weaker grip strength than wild-type mice from the age of 18 months. AT2/Mas knockout mice exhibited larger sizes, but smaller numbers and increased frequency of central nucleation (a marker of aged muscle) of single skeletal muscle fibers than AT2 knockout mice. Canonical RAS-associated genes, inflammation-associated genes, and senescence-associated genes were highly expressed in skeletal muscles of AT2/Mas knockout mice. Muscle angiotensin II content increased in AT2/Mas knockout mice. Conclusions Double deletion of AT2 and Mas in mice exaggerated aging-associated muscle weakness, accompanied by signatures of activated RAS, inflammation, and aging in skeletal muscles. Because aging-associated phenotypes were absent in single deletions of the receptors, AT2 and Mas could complement each other in preventing local activation of RAS during aging.


Assuntos
Força Muscular , Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Proteínas Proto-Oncogênicas/deficiência , Receptor Tipo 2 de Angiotensina/deficiência , Receptores Acoplados a Proteínas G/deficiência , Fatores Etários , Animais , Fibrose , Regulação da Expressão Gênica , Predisposição Genética para Doença , Força da Mão , Mediadores da Inflamação/metabolismo , Masculino , Camundongos Endogâmicos C57BL , Camundongos Knockout , Força Muscular/genética , Debilidade Muscular/genética , Debilidade Muscular/metabolismo , Debilidade Muscular/patologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Fenótipo , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas/genética , Receptor Tipo 2 de Angiotensina/genética , Receptores Acoplados a Proteínas G/genética , Sistema Renina-Angiotensina/genética
7.
Neurology ; 97(7 Suppl 1): S99-S110, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230196

RESUMO

OBJECTIVE: To determine a suitable outcome measure for assessing muscle strength in neurofibromatosis (NF) type 1 and NF2 clinical trials, we evaluated the intraobserver reliability of handheld dynamometry (HHD) and developed consensus recommendations for its use in NF clinical trials. METHODS: Patients ≥5 years of age with weakness in at least 1 muscle group by manual muscle testing (MMT) were eligible. Maximal isometric muscle strength of a weak muscle group and the biceps of the dominant arm was measured by HHD. An average of 3 repetitions per session was used as an observation, and 3 sessions with rest period between each were performed on the same day by a single observer. Intrasession and intersession intraclass correlation coefficients (ICCs) and coefficients of variation (CVs) were calculated to assess reliability and measurement error. RESULTS: Twenty patients with NF1 and 13 with NF2 were enrolled; median age was 12 years (interquartile range [IQR] 9-17 years) and 29 years (IQR 22-38 years), respectively. By MMT, weak muscle strength ranged from 2-/5 to 4+/5. Biceps strength was 5/5 in all patients. Intersession ICCs for the weak muscles were 0.98 and 0.99 in the NF1 and NF2 cohorts, respectively, and for biceps were 0.97 and 0.97, respectively. The median CVs for average session strength were 5.4% (IQR 2.6%-7.3%) and 2.9% (IQR 2.0%-6.2%) for weak muscles and biceps, respectively. CONCLUSION: HHD performed by a trained examiner with a well-defined protocol is a reliable technique to measure muscle strength in NF1 and NF2. Recommendations for strength testing in NF1 and NF2 trials are provided.


Assuntos
Contração Isométrica/fisiologia , Força Muscular/fisiologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiologia , Adolescente , Adulto , Criança , Humanos , Masculino , Pessoa de Meia-Idade , Dinamômetro de Força Muscular , Debilidade Muscular/diagnóstico , Neurofibromatoses/fisiopatologia
8.
Muscle Nerve ; 64(2): 219-224, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34037996

RESUMO

INTRODUCTION/AIMS: We studied a patient with a congenital myasthenic syndrome (CMS) caused by a dominant mutation in the synaptotagmin 2 gene (SYT2) and compared the clinical features of this patient with those of a previously described patient with a recessive mutation in the same gene. METHODS: We performed electrodiagnostic (EDX) studies, genetic studies, muscle biopsy, microelectrode recordings and electron microscopy (EM). RESULTS: Both patients presented with muscle weakness and bulbar deficits, which were worse in the recessive form. EDX studies showed presynaptic failure, which was more prominent in the recessive form. Microelectrode studies in the dominant form showed a marked reduction of the quantal content, which increased linearly with higher frequencies of nerve stimulation. The MEPP frequencies were normal at rest but increased markedly with higher frequencies of nerve stimulation. The EM demonstrated overdeveloped postsynaptic folding, and abundant endosomes, multivesicular bodies and degenerative lamellar bodies inside small nerve terminals. DISCUSSION: The recessive form of CMS caused by a SYT2 mutation showed far more severe clinical manifestations than the dominant form. The pathogenesis of the dominant form likely involves a dominant-negative effect due to disruption of the dual function of synaptotagmin as a Ca2+ -sensor and modulator of synaptic vesicle exocytosis.


Assuntos
Mutação/genética , Síndromes Miastênicas Congênitas/genética , Junção Neuromuscular/genética , Sinaptotagmina II/genética , Adulto , Pré-Escolar , Feminino , Humanos , Síndrome Miastênica de Lambert-Eaton/genética , Síndrome Miastênica de Lambert-Eaton/fisiopatologia , Masculino , Debilidade Muscular/genética , Debilidade Muscular/fisiopatologia , Síndromes Miastênicas Congênitas/diagnóstico , Junção Neuromuscular/fisiopatologia
9.
Acta Neuropathol ; 141(6): 917-927, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33864496

RESUMO

Systemic sclerosis represents a chronic connective tissue disease featuring fibrosis, vasculopathy and autoimmunity, affecting skin, multiple internal organs, and skeletal muscles. The vasculopathy is considered obliterative, but its pathogenesis is still poorly understood. This may partially be due to limitations of conventional transmission electron microscopy previously being conducted only in single patients. The aim of our study was therefore to precisely characterize immune inflammatory features and capillary morphology of systemic sclerosis patients suffering from muscle weakness. In this study, we identified 18 individuals who underwent muscle biopsy because of muscle weakness and myalgia in a cohort of 367 systemic sclerosis patients. We performed detailed conventional and immunohistochemical analysis and large-scale electron microscopy by digitizing entire sections for in-depth ultrastructural analysis. Muscle biopsies of 12 of these 18 patients (67%) presented minimal features of myositis but clear capillary alteration, which we termed minimal myositis with capillary pathology (MMCP). Our study provides novel findings in systemic sclerosis-associated myositis. First, we identified a characteristic and specific morphological pattern termed MMCP in 67% of the cases, while the other 33% feature alterations characteristic of other overlap syndromes. This is also reflected by a relatively homogeneous clinical picture among MMCP patients. They have milder disease with little muscle weakness and a low prevalence of interstitial lung disease (20%) and diffuse skin involvement (10%) and no cases of either pulmonary arterial hypertension or renal crisis. Second, large-scale electron microscopy, introducing a new level of precision in ultrastructural analysis, revealed a characteristic capillary morphology with basement membrane thickening and reduplications, endothelial activation and pericyte proliferation. We provide open-access pan-and-zoom analysis to our datasets, enabling critical discussion and data mining. We clearly highlight characteristic capillary pathology in skeletal muscles of systemic sclerosis patients.


Assuntos
Capilares/patologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/patologia , Miosite/patologia , Escleroderma Sistêmico/patologia , Adulto , Idoso , Biópsia , Estudos de Coortes , Feminino , Humanos , Inflamação , Masculino , Microscopia Eletrônica de Transmissão/instrumentação , Pessoa de Meia-Idade , Miosite/imunologia , Escleroderma Sistêmico/imunologia
10.
Clin Transl Sci ; 14(4): 1512-1523, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33742769

RESUMO

Mechanical ventilation (MV) is a life-saving instrument used to provide ventilatory support for critically ill patients and patients undergoing surgery. Unfortunately, an unintended consequence of prolonged MV is the development of inspiratory weakness due to both diaphragmatic atrophy and contractile dysfunction; this syndrome is labeled ventilator-induced diaphragm dysfunction (VIDD). VIDD is clinically important because diaphragmatic weakness is an important contributor to problems in weaning patients from MV. Investigations into the pathogenesis of VIDD reveal that oxidative stress is essential for the rapid development of VIDD as redox disturbances in diaphragm fibers promote accelerated proteolysis. Currently, no standard treatment exists to prevent VIDD and, therefore, developing a strategy to avert VIDD is vital. Guided by evidence indicating that activation of the classical axis of the renin-angiotensin system (RAS) in diaphragm fibers promotes oxidative stress and VIDD, we hypothesized that activation of the nonclassical RAS signaling pathway via angiotensin 1-7 (Ang1-7) will protect against VIDD. Using an established animal model of prolonged MV, our results disclose that infusion of Ang1-7 protects the diaphragm against MV-induced contractile dysfunction and fiber atrophy in both fast and slow muscle fibers. Further, Ang1-7 shielded diaphragm fibers against MV-induced mitochondrial damage, oxidative stress, and protease activation. Collectively, these results reveal that treatment with Ang1-7 protects against VIDD, in part, due to diminishing oxidative stress and protease activation. These important findings provide robust evidence that Ang1-7 has the therapeutic potential to protect against VIDD by preventing MV-induced contractile dysfunction and atrophy of both slow and fast muscle fibers.


Assuntos
Angiotensina I/administração & dosagem , Diafragma/efeitos dos fármacos , Debilidade Muscular/prevenção & controle , Transtornos Musculares Atróficos/prevenção & controle , Fragmentos de Peptídeos/administração & dosagem , Respiração Artificial/efeitos adversos , Animais , Diafragma/fisiopatologia , Modelos Animais de Doenças , Feminino , Humanos , Infusões Intravenosas , Contração Muscular/efeitos dos fármacos , Contração Muscular/fisiologia , Debilidade Muscular/etiologia , Debilidade Muscular/fisiopatologia , Transtornos Musculares Atróficos/etiologia , Transtornos Musculares Atróficos/fisiopatologia , Estresse Oxidativo/efeitos dos fármacos , Ratos
11.
Muscle Nerve ; 63(6): 897-901, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33759219

RESUMO

INTRODUCTION: Periodic paralysis (PP) is thought to be limited to episodes of muscle weakness, but there are reports of fibromyalgia-like pain in PP. We aimed to evaluate pain and comorbid sleep, fatigue, and mood disorders in PP patients. METHODS: We administered a cross-sectional survey to PP patients at the 2019 Periodic Paralysis Conference. The survey consisted of the Brief Pain Inventory, Widespread Pain Index, Pittsburgh Sleep Quality Index, Modified Fatigue Impact Scale, and ten-question Center for Epidemiologic Studies Depression Scale (CESD-10). Descriptive statistics for PP patients were calculated and compared with earlier studies. RESULTS: Forty-four individuals with PP took the survey. Of these patients, 52.3% reported a moderate to severe interference of pain on their lives, and 45.5% met the study criteria for fibromyalgia. Patients with SCN4A mutations had higher rates of fibromyalgia than the next most prevalent gene mutation, CACNA1S. In patients with pain, there were increased rates of comorbid fatigue, depression, and poor sleep quality. DISCUSSION: Pain, akin to fibromyalgia, is a significant symptom of PP and can affect quality of life. Pain in PP was more prevalent than in the general population, at a rate comparable with other chronic neuromuscular disease groups. PP patients could benefit from a multidisciplinary approach to assess their pain, sleep, fatigue, and mood.


Assuntos
Fibromialgia/complicações , Debilidade Muscular/complicações , Dor/etiologia , Paralisias Periódicas Familiares/complicações , Adulto , Estudos Transversais , Feminino , Fibromialgia/genética , Fibromialgia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/genética , Debilidade Muscular/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Dor/genética , Dor/fisiopatologia , Paralisias Periódicas Familiares/genética , Paralisias Periódicas Familiares/fisiopatologia , Qualidade de Vida
12.
Clin Neurol Neurosurg ; 202: 106489, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33596487

RESUMO

BACKGROUND AND OBJECTIVE: Pigmented villonodular synovitis (PVNS) is a lesion of uncertain etiology that involves the synovial membranes of joints or tendon sheaths, representing a diffuse and non-encapsulated form of the more common giant cell tumors of the synovium (GCTTS). PVNS was reclassified to denote a diffuse form of synovial giant cell tumor (TSGCT), while 'giant cell tumor of the tendon sheath (GCTTS)' was used for localized lesions. These pathologies rarely affect the axial skeleton. We provide an unprecedented and extensive systematic review of both lesions highlighting presentation, diagnostic considerations, treatment, prognosis, and outcomes, and we report a short case-series. METHOD: We describe two-cases and conduct a systematic review in accordance with PRISMA guidelines. RESULT: PVNS was identified in most of the cases reviewed (91.6 %), manifesting predominantly in the cervical spine (40 %). Patients commonly presented with neck pain (59 %), back pain (53 %), and lower back pain (81.2 %) for cervical, thoracic, and lumbar lesions, respectively. GTR occurred at rates of 94 %, 80 %, and 87.5 %. Recurrence was most common in the lumbar region (30.7 %). GCTTS cases (8%) manifested in the cervical and thoracic spine at the same frequency. We reported first case of GCTTS in the lumbosacral region. Both poses high rate of facet and epidural involvements. CONCLUSION: Spinal PVNS and GCTTS are rare. These lesions manifest most commonly as PVNS within the cervical spine. Both types have a high rate of facet and epidural involvement, while PVNS has the highest rate of recurrence within the lumbar spine. The clinical and radiological features of these lesions make them difficult to differentiate from others with similar histogenesis, necessitating tissue diagnosis. Proper management via GTR resolves the lesion, with low rates of recurrence.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Sinovite Pigmentada Vilonodular/diagnóstico por imagem , Adulto , Dor nas Costas/fisiopatologia , Feminino , Transtornos Neurológicos da Marcha/fisiopatologia , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Tumor de Células Gigantes de Bainha Tendinosa/fisiopatologia , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Humanos , Hipestesia/fisiopatologia , Dor Lombar/fisiopatologia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Imageamento por Ressonância Magnética , Debilidade Muscular/fisiopatologia , Cervicalgia/fisiopatologia , Procedimentos Neurocirúrgicos , Sacro/diagnóstico por imagem , Sacro/cirurgia , Fusão Vertebral , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/fisiopatologia , Neoplasias da Coluna Vertebral/cirurgia , Sinovite Pigmentada Vilonodular/patologia , Sinovite Pigmentada Vilonodular/fisiopatologia , Sinovite Pigmentada Vilonodular/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Adulto Jovem
13.
World Neurosurg ; 148: 29-37, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33444829

RESUMO

OBJECTIVE: Intracranial myeloid sarcomas (IMS) are rare central nervous system manifestations of malignant hematopoietic neoplasms of myeloid origin such as acute myeloid leukemia and chronic myeloid leukemia. Reported cases in the literature are limited to primarily case reports. We present a systematic review of this rare central nervous system tumor, characterizing the clinical presentation, tumor location, histopathology, and available treatment modalities. We correlate these variables with mortality, recurrence, and complications to suggest optimal management strategies for IMS. METHODS: A systematic literature search was performed across Ovid MEDLINE, Scopus, and Embase using 14 search terms in accordance to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. This systematic review examines variables such as patient age, tumor location, size, presenting symptoms, treatment modality, extent of resection, and mortality. We performed descriptive analyses to identify bivariate associations between patient characteristics, treatment, and outcomes. RESULTS: The mean age at diagnosis was 34.8 years, and the most common etiology was acute myeloid leukemia (68.8%). The most common presenting symptoms were headache (45.5%), vision complaints (27.3%), and weakness/motor symptoms (21.2%). IMS were most commonly located in the temporal lobe (10.1%), cerebellum (10.1%), or falcine/parasagittal (10.1%) region. Patients who received radiotherapy (P < 0.001) or chemotherapy (P < 0.001) had lower rates of mortality versus those who did not. Surgical treatment and extent of resection were not significantly associated with mortality (P > 0.05). CONCLUSION: The use of adjuvant radiotherapy or chemotherapy for IMS significantly reduces mortality, confirming IMS as a cranial manifestation of a systemic disease. Although surgical treatment is indicated for histopathologic diagnosis and to relieve mass effect, the extent of resection does not predict overall survival.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias Encefálicas/terapia , Procedimentos Neurocirúrgicos/métodos , Radioterapia/métodos , Sarcoma Mieloide/terapia , Neoplasias Encefálicas/etiologia , Neoplasias Encefálicas/fisiopatologia , Quimioterapia Adjuvante , Cefaleia/fisiopatologia , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Leucemia Mieloide Aguda/complicações , Debilidade Muscular/fisiopatologia , Recidiva Local de Neoplasia , Radioterapia Adjuvante , Sarcoma Mieloide/etiologia , Sarcoma Mieloide/fisiopatologia , Taxa de Sobrevida , Resultado do Tratamento , Transtornos da Visão/fisiopatologia
14.
Nat Commun ; 12(1): 654, 2021 01 28.
Artigo em Inglês | MEDLINE | ID: mdl-33510174

RESUMO

Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n = 48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Loci include genes reportedly involved in autoimmune disease (HLA-DQA1 p = 4 × 10-17), arthritis (GDF5 p = 4 × 10-13), cell cycle control and cancer protection, regulation of transcription, and others involved in the development and maintenance of the musculoskeletal system. Using Mendelian randomization we report possible overlapping causal pathways, including diabetes susceptibility, haematological parameters, and the immune system. We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways considered to be hallmarks of ageing.


Assuntos
Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Debilidade Muscular/genética , Sarcopenia/genética , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/genética , Estudos de Coortes , Europa (Continente) , Feminino , Fator 5 de Diferenciação de Crescimento/genética , Cadeias alfa de HLA-DQ/genética , Humanos , Masculino , Pessoa de Meia-Idade , Força Muscular/genética , Força Muscular/fisiologia , Debilidade Muscular/fisiopatologia , Polimorfismo de Nucleotídeo Único , Sarcopenia/fisiopatologia
15.
J Neuromuscul Dis ; 8(2): 225-234, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33459658

RESUMO

BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness. OBJECTIVE: Investigate the clinical presentation and progression of GNE myopathy. METHODS: The GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy. Muscle strength was assessed with hand-held dynamometry (HHD), with upper extremity (UE) and lower extremity (LE) composite scores reflecting upper and lower extremity muscle groups, respectively. The GNE myopathy-Functional Activity Scale (GNEM-FAS) was used to further assess impairment in mobility, upper extremity function, and self-care. RESULTS: Eighty-seven of 101 enrolled subjects completed the trial until study closure by the sponsor; 60 completed 36 months. Mean (SD) HHD UE composite score decreased from 34.3 kg (32.0) at baseline to 29.4 kg (32.6) kg at month 36 (LS mean change [95%CI]: -3.8 kg [-5.9, -1.7]; P = 0.0005). Mean (SD) HHD LE composite score decreased from 32.0 kg (34.1) at baseline to 25.5 kg (31.2) at month 36 (LS mean change [95%CI]: -4.9 [-7.7, -2.2]; P = 0.0005). GNEM-FAS scores were more severe at baseline in subjects who walked <200 meters versus ≥200 meters in 6 minutes; in both groups, GNEM-FAS total, mobility, UE, and self-care scores decreased from baseline through month 36. CONCLUSIONS: These findings demonstrate progressive decline in muscle strength in GNE myopathy and provide insight into the appropriate tools to detect clinically meaningful changes in future GNE myopathy interventional trials.


Assuntos
Miopatias Distais/fisiopatologia , Adulto , Bulgária , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Força Muscular , Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Estudos Prospectivos , Adulto Jovem
16.
Knee Surg Sports Traumatol Arthrosc ; 29(1): 181-191, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32108260

RESUMO

PURPOSE: The authors have previously published early outcomes of arthroscopic repairs of 86 massive rotator cuff tears (mRCTs) and aimed to determine whether their clinical scores are maintained or deteriorate after 5 more years. METHODS: Of the initial series of 86 shoulders, 2 had deceased, 16 lost to follow-up and 4 reoperated, leaving 64 for assessment. The repairs were complete in 44 and partial in 20, and 17 shoulders had pseudoparalysis. Preoperative assessment included absolute Constant score, shoulder strength, tear pattern, tendon retraction, and fatty infiltration. Patients were evaluated at 8.1 ± 0.6 years (range 7.1-9.3) using absolute and age-/sex-adjusted Constant score, subjective shoulder value (SSV), and simple shoulder test (SST). RESULTS: Absolute Constant score was 80.0 ± 11.7 at first follow-up (at 2-5 years) but diminished to 76.7 ± 10.2 at second follow-up (at 7-10 years) (p < 0.001). Adjusted Constant score was 99.7 ± 15.9 at first follow-up and remained 98.8 ± 15.9 at second follow-up (ns). Comparing other outcomes revealed a decrease in strength over time (p < 0.001) but no change in pain, SSV or SST. Partially-repaired shoulders had lower strength at both follow-ups (p < 0.05). Pseudoparalytic shoulders had lower absolute and adjusted Constant score at second follow-up (p < 0.05), but their net improvements in absolute Constant score were higher (p = 0.014). CONCLUSIONS: Both partial and complete arthroscopic repairs grant satisfactory long-term outcomes for patients with mRCTs, regardless of their tear pattern, fatty infiltration and presence of pseudoparalysis. Absolute Constant score decreased over time for both repair types, but adjusted Constant score remained stable, suggesting that decline is due to aging rather than tissue degeneration. The clinical relevance of this study is that arthroscopic repair should be considered for mRCTs, even if not completely repairable, rather than more invasive and/or risky treatments, such as reverse shoulder arthroplasty. LEVEL OF EVIDENCE: IV.


Assuntos
Artroscopia , Lesões do Manguito Rotador/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/fisiopatologia , Reoperação , Manguito Rotador/cirurgia , Lesões do Manguito Rotador/fisiopatologia , Resultado do Tratamento
17.
Am J Phys Med Rehabil ; 100(6): 570-575, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32932354

RESUMO

OBJECTIVE: The aim of the study was to determine intrarater and interrater reliabilities for static strength assessment of knee flexors and knee extensors in patients with total knee arthroplasty, during the acute postoperative rehabilitation. DESIGN: Forty-five total knee arthroplasty patients were included in the study. Two physical therapists performed strength assessments by using hand-held dynamometry. Patients performed three trials and a 30-sec rest was provided between each trial. After this, a 5-min rest was provided, and then, a second investigator performed the same procedure for interrater reliability. Assessments for intrarater reliability were performed 1 hr later. RESULTS: The intrarater reliability of knee extensors and knee flexors strength measurements were 0.96 and 0.94, respectively. The standard error of measurement and minimal detectable change 95% confidence level were 6.17 and 17.01 Nm for knee extensors and were 8.89 and 24.51 Nm for knee flexors, respectively. The interrater reliability of knee flexors and knee extensors strength measurement was 0.96 for both. The standard error of measurement and minimal detectable change values at 95% confidence level were 6.00 and 16.54 Nm for knee extensors and were 6.32 and 17.42 Nm for knee flexors, respectively. CONCLUSIONS: Hand-held dynamometry is a reliable method to assess static knee strength. Hand-held dynamometry assessment can be implemented during acute postoperative rehabilitation. Our results may assist the clinicians in determining an accurate postoperative rehabilitation program after total knee arthroplasty surgery.


Assuntos
Artroplastia do Joelho/reabilitação , Dinamômetro de Força Muscular/normas , Força Muscular/fisiologia , Debilidade Muscular/fisiopatologia , Idoso , Feminino , Humanos , Pacientes Internados , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Teste de Caminhada
18.
J Knee Surg ; 34(4): 357-362, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31476778

RESUMO

Running asymmetry has not been assessed among patients with anterior cruciate ligament (ACL) deficiency. The aim of this study was to evaluate the spatiotemporal and muscle force asymmetry indexes in the subjects with ACL reconstruction (ACLR) compared with normal subjects. Eight individuals with a reconstructed ACL and eight individuals with intact ACLs were participated in this study. A Vicon motion analysis system and two Kistler force plates were used to record data. Muscle forces analysis was done by the use of OpenSim software. The results of this study showed that ACLR group had a significant weakness in hip abductor, extensor, and adductor muscles of the affected limb compared with healthy subjects (p < 0.05). In ACLR group, asymmetry of gluteus minimus muscle force was significantly greater than that of healthy group (p = 0.04). After the reconstruction of the ACL, there is still a significant asymmetry in muscle force as well as a reduction in force production of ACLR group especially in reconstructed side which put a person at high risk of reinjuries. Thus, strengthening of these muscles on the affected side to increase running performance of ACLR group is recommended.


Assuntos
Reconstrução do Ligamento Cruzado Anterior , Corrida/fisiologia , Adulto , Fenômenos Biomecânicos/fisiologia , Estudos de Casos e Controles , Simulação por Computador , Feminino , Humanos , Masculino , Debilidade Muscular/fisiopatologia , Software
19.
World Neurosurg ; 147: e32-e39, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33321250

RESUMO

BACKGROUND: Brain metastases from endometrial cancer are rare and poorly described. We aimed to estimate the proportion of brain metastases at our institution that arose from endometrial cancer, and to detail clinicopathologic features and survival outcomes. METHODS: We retrospectively identified and reviewed the charts of 30 patients with brain metastases from endometrial cancer seen at Stanford Hospital from 2008 to 2018. RESULTS: Among all patients with brain metastases, the proportion arising from endometrial cancer was 0.84%. The median age at diagnosis was 62 years (range, 39-79 years), and the median overall survival from brain metastasis diagnosis was 6.8 months (range, 1.0-58.2 months). Most patients harbored endometrioid histology (53.3%), and some had concurrent metastases to lung (50.0%), bone (36.7%), and liver (20.0%). The median time from endometrial cancer diagnosis to brain metastasis development was 20.8 months (range, 1.4 months to 11.2 years), and the median number of brain metastases was 2 (range, 1-20). Patients with non-endometrioid histologies had more brain metastases than those with endometrioid histology (6.21 vs. 2.44, P = 0.029). There was no difference in overall survival by histology. CONCLUSIONS: We describe the largest cohort to date of patients with brain metastases originating from endometrial cancer. These patients represent a small fraction of all patients with brain metastases and have poor prognoses. These data enable providers caring for patients with brain metastases from endometrial cancer to appropriately counsel their patients.


Assuntos
Neoplasias Encefálicas/secundário , Carcinoma Endometrioide/secundário , Carcinossarcoma/secundário , Neoplasias do Endométrio/patologia , Neoplasias Císticas, Mucinosas e Serosas/secundário , Adulto , Idoso , Doenças Assintomáticas , Ataxia/fisiopatologia , Neoplasias Ósseas/secundário , Neoplasias Encefálicas/fisiopatologia , Neoplasias Encefálicas/terapia , Carcinoma Endometrioide/fisiopatologia , Carcinoma Endometrioide/terapia , Carcinossarcoma/fisiopatologia , Carcinossarcoma/terapia , Doenças dos Nervos Cranianos/fisiopatologia , Feminino , Cefaleia/fisiopatologia , Humanos , Avaliação de Estado de Karnofsky , Neoplasias Hepáticas/secundário , Neoplasias Pulmonares/secundário , Metastasectomia , Pessoa de Meia-Idade , Debilidade Muscular/fisiopatologia , Gradação de Tumores , Neoplasias Císticas, Mucinosas e Serosas/fisiopatologia , Neoplasias Císticas, Mucinosas e Serosas/terapia , Procedimentos Neurocirúrgicos , Radiocirurgia , Taxa de Sobrevida , Fatores de Tempo
20.
Anesth Analg ; 133(2): 435-444, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-33323787

RESUMO

BACKGROUND: Patients undergoing thoracoscopic procedures may be at high-risk for incomplete neuromuscular recovery and associated complications. The aim of this clinical investigation was to assess the incidence of postoperative residual neuromuscular blockade in adult thoracic surgical patients administered neostigmine or sugammadex when optimal dosing and reversal strategies for these agents were used. The effect of choice of reversal agent on hypoxemic events and signs and symptoms of muscle weakness were also determined. Additionally, operative conditions in each group were graded by surgeons performing the procedures. METHODS: Two hundred patients undergoing thoracoscopic surgical procedures were enrolled in this nonrandomized controlled trial. One hundred consecutive patients maintained at moderate levels of neuromuscular blockade were reversed with neostigmine (neostigmine group) followed by 100 consecutive patients given sugammadex to antagonize deeper levels of neuromuscular blockade (sugammadex group). Anesthetic and neuromuscular management were standardized. Surgeons rated operative conditions at the conclusion of the procedure on a 4-point scale (grade 1 = excellent to grade 4 = poor). Train-of-four ratios were measured immediately before extubation and at PACU admission (primary outcomes). Postoperatively, patients were assessed for adverse respiratory events and 11 signs and 16 symptoms of muscle weakness. RESULTS: The 2 groups were similar in intraoperative management characteristics. The percentage of patients with residual neuromuscular blockade, defined as a normalized train-of-four ratio <0.9, was significantly greater in the neostigmine group than the sugammadex group at both tracheal extubation (80% vs 6%, respectively, P < .0001) and PACU admission (61% vs 1%, respectively, P < .0001). Patients in the neostigmine group had less optimal operative conditions (median score 2 [good] versus 1 [excellent] in the sugammadex group; P < .0001), and more symptoms of muscle weakness were present in these subjects (median number [interquartile range] 4 [1-8] vs 1 [0-2] in the sugammadex group, P < .0001). No differences between groups in adverse airway events were observed. CONCLUSIONS: Despite the application of strategies documented to reduce the risk of residual neuromuscular blockade, a high percentage of thoracoscopic patients whose neuromuscular blockade was reversed with neostigmine were admitted to the PACU with clinical evidence of residual paralysis. In contrast, muscle weakness was rarely observed in patients whose neuromuscular blockade was antagonized with sugammadex.


Assuntos
Recuperação Demorada da Anestesia , Neostigmina/uso terapêutico , Bloqueio Neuromuscular , Bloqueadores Neuromusculares/uso terapêutico , Junção Neuromuscular/efeitos dos fármacos , Sugammadex/uso terapêutico , Toracoscopia , Idoso , Idoso de 80 Anos ou mais , Período de Recuperação da Anestesia , Feminino , Humanos , Illinois , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/induzido quimicamente , Debilidade Muscular/fisiopatologia , Neostigmina/efeitos adversos , Bloqueio Neuromuscular/efeitos adversos , Bloqueadores Neuromusculares/efeitos adversos , Junção Neuromuscular/fisiopatologia , Monitoração Neuromuscular , Recuperação de Função Fisiológica , Sugammadex/efeitos adversos , Toracoscopia/efeitos adversos , Fatores de Tempo , Resultado do Tratamento
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