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1.
BMC Med Genet ; 21(1): 21, 2020 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-32005172

RESUMO

BACKGROUND: More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. This study aimed to investigate if specific MECP2 mutations may affects the degree of involvement of the bone status in Rett subjects. METHODS: In 232 women with Rett syndrome (mean age 13.8 ± 8.3 yrs) we measured bone mineral density at whole body and at femur (BMD-FN and BMD-TH) by using a DXA machine (Hologic QDR 4500). QUS parameters were assessed at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound: AD-SoS and bone transmission time: BTT). Moreover, ambulation capacity (independent or assisted), fracture history and presence of scoliosis were assessed. We divided the subjects with the most common point mutations in two group based on genotype-phenotype severity; in particular, there has been consensus in recognising that the mutations R106T, R168X, R255X, R270X are considered more severe. RESULTS: As aspect, BMD-WB, BMD-FN and BMD-TH were lower in subjects with Rett syndrome that present the most severe mutations with respect to subjects with Rett syndrome with less severe mutations, but the difference was statistically significant only for BMD-FN and BMD-TH (p < 0.05). Also both AD-SoS and BTT values were lower in subjects that present the most severe mutations with respect to less severe mutations but the difference was not statistically significant. Moreover, subjects with Rett syndrome with more severe mutations present a higher prevalence of scoliosis (p < 0.05) and of inability to walk (p < 0.05). CONCLUSION: This study confirms that MECP2 mutation type is a strong predictor of disease severity in subjects with Rett syndrome. In particular, the subjects with more severe mutation present a greater deterioration of bone status, and a higher prevalence of scoliosis and inability to walk.


Assuntos
Doenças Ósseas/genética , Proteína 2 de Ligação a Metil-CpG/genética , Osteoporose/genética , Síndrome de Rett/genética , Adolescente , Adulto , Densidade Óssea/genética , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/fisiopatologia , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/genética , Fraturas Ósseas/fisiopatologia , Humanos , Masculino , Mutação , Osteoporose/diagnóstico por imagem , Osteoporose/fisiopatologia , Síndrome de Rett/diagnóstico por imagem , Síndrome de Rett/fisiopatologia , Escoliose/diagnóstico por imagem , Escoliose/genética , Escoliose/fisiopatologia , Índice de Gravidade de Doença , Adulto Jovem
2.
Bone Joint J ; 102-B(2): 254-260, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32009436

RESUMO

AIMS: The aim of this study was to assess whether supine flexibility predicts the likelihood of curve progression in patients with adolescent idiopathic scoliosis (AIS) undergoing brace treatment. METHODS: This was a retrospective analysis of patients with AIS prescribed with an underarm brace between September 2008 to April 2013 and followed up until 18 years of age or required surgery. Patients with structural proximal curves that preclude underarm bracing, those who were lost to follow-up, and those who had poor compliance to bracing (<16 hours a day) were excluded. The major curve Cobb angle, curve type, and location were measured on the pre-brace standing posteroanterior (PA) radiograph, supine whole spine radiograph, initial in-brace standing PA radiograph, and the post-brace weaning standing PA radiograph. Validation of the previous in-brace Cobb angle regression model was performed. The outcome of curve progression post-bracing was tested using a logistic regression model. The supine flexibility cut-off for curve progression was analyzed with receiver operating characteristic curve. RESULTS: A total of 586 patients with mean age of 12.6 years (SD 1.2) remained for analysis after exclusion. The baseline Cobb angle was similar for thoracic major curves (31.6° (SD 3.8°)) and lumbar major curves (30.3° (SD 3.7°)). Curve progression was more common in the thoracic curves than lumbar curves with mean final Cobb angles of 40.5° (SD 12.5°) and 31.8° (SD 9.8°) respectively. This dataset matched the prediction model for in-brace Cobb angle with less mean absolute error in thoracic curves (0.61) as compared to lumbar curves (1.04). Reduced age and Risser stage, thoracic curves, increased pre-brace Cobb angle, and reduced correction and flexibility rates predicted increased likelihood of curve progression. Flexibility rate of more than 28% has likelihood of preventing curve progression with bracing. CONCLUSION: Supine radiographs provide satisfactory prediction for in-brace correction and post-bracing curve magnitude. The flexibility of the curve is a guide to determine the likelihood for brace success. Cite this article: Bone Joint J 2020;102-B(2):254-260.


Assuntos
Amplitude de Movimento Articular/fisiologia , Escoliose/diagnóstico por imagem , Escoliose/terapia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Decúbito Dorsal/fisiologia , Adolescente , Axila , Braquetes , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Escoliose/fisiopatologia
3.
J Pediatr Orthop ; 40(1): 42-47, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31815861

RESUMO

BACKGROUND: Several authors mentioned surgical outcome for scoliosis associated with neurofibromatosis type 1 (NF-1). However, no studies have summarized long-term surgical outcomes after surgical treatment of early-onset scoliosis (EOS) with NF-1. The purpose of this study is to evaluate the long-term surgical outcome after early definitive spinal fusion for EOS in NF-1 patients. METHODS: We performed a retrospective review on a cohort of 11 patients diagnosed with EOS associated with NF-1 between 1990 and 2009 in our hospital. The study included 7 male and 4 female NF-1 patients with a mean age at fusion surgery of 8 years 4 months who underwent early definitive spinal fusion for EOS. We reviewed radiographs, computed tomography and magnetic resonance images for each patient. The data collected included type of NF-1, Cobb angles, kyphotic angle, spinal length (T1-S1), and pulmonary function. We also evaluated progression of the dystrophic change through radiographs and computed tomography during the follow-up period. RESULTS: The mean follow-up duration was 14 years (5 y 10 mo to 25 y). All patients underwent anterior and posterior fusion surgeries in either 1 or 2 stages. Seven cases had subtotal tumor resection from the concave side followed by rib strut grafting. The mean preoperative Cobb angle of the primary curve was corrected from 71.2 to 24.1 degrees and was maintained at the final follow-up at 23.5 degrees. Mean values for preoperative and final follow-up T1-S1 heights were 30.7 and 36.2 cm, respectively. Mean values for preoperative and final follow-up % forced vital capacity (the present/the predicted) were 75.0% and 74.4%, respectively. The dystrophic change progressed in all cases during the long-term follow-up. CONCLUSIONS: Our goals for NF-1 scoliosis are to obtain deformity correction, to achieve stable instrumentation by using longer fusion levels and to attain a solid fusion mass that can tolerate continual erosion during the long-term follow-up. We achieve this by using a circumferential approach for EOS associated with NF-1. LEVEL OF EVIDENCE: Level IV-case series.


Assuntos
Neurofibromatose 1/complicações , Escoliose/complicações , Escoliose/cirurgia , Fusão Vertebral , Adolescente , Adulto , Criança , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , Humanos , Cifose/diagnóstico por imagem , Cifose/cirurgia , Imagem por Ressonância Magnética , Masculino , Neurofibromatose 1/cirurgia , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Escoliose/fisiopatologia , Fusão Vertebral/métodos , Fatores de Tempo , Tomografia por Raios X , Resultado do Tratamento , Capacidade Vital , Adulto Jovem
4.
Gait Posture ; 75: 93-97, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31639614

RESUMO

BACKGROUND: Scoliosis is accepted as a 3-dimensional deformity involving axial, sagittal and frontal planes. RESEARCH QUESTION: To evaluate the correlation between baropodometric parameters and coronal balance status for idiopathic scoliosis. METHODS: 44 patients (7 males and 37 females) of Adolescent Idiopathic Scoliosis (AIS) were recruited. All participants should have scoliosis confirmed by a spine X-ray performed less than one month ahead of the baropodometric study. Radiographic studies including Cobb angle, offset between Central Sacral Vertical Line (CSVL) and C7 Vertebra Plumb Line (C7PL) (considered as global coronal balance, GCB), Apical Translation of the major curve (AT, considered as regional coronal balance) as well as Lateral Pelvic Tilt (LPT) were examined. A static baropodometry was performed for each patient. The contact surface and load ratio (to the entire load of both feet) were measured. RESULTS: On both sides, the surface of the forefoot was significantly larger than that of the rearfoot (P < 0.001) and the load ratio of the forefoot was significantly smaller than that of the rearfoot (P < 0.001). On the major curve side, GCB showed a positive correlation with the contact surface of the forefoot (r = 0.36, P = 0.019), as well as the load ratio (r = 0.40, P = 0.008). AT also showed a positive correlation with the load ratio of the forefoot (r = 0.331, P = 0.03) but no correlation with contact surface. SIGNIFICANCE: In scoliosis, coronal balance is correlated to plantar pressure distribution. Apical translation of the major curve and offset between CSVL and C7PL are the best describers of coronal balance.


Assuntos
Pé/fisiopatologia , Marcha/fisiologia , Escoliose/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Masculino , Postura/fisiologia , Pressão , Radiografia , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Suporte de Carga/fisiologia
5.
Isr Med Assoc J ; 21(11): 752-755, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31713365

RESUMO

BACKGROUND: In non-ambulatory patients with cerebral palsy, the presence of scoliosis has a major impact on health and quality of life. The aim of this review is to raise awareness of caregivers from various professions to the extent of the problem, to explain the natural history of neuromuscular scoliosis and its pathophysiology, and to describe up-to-date optional conservative and surgical treatments.


Assuntos
Paralisia Cerebral/complicações , Paralisia Cerebral/fisiopatologia , Escoliose/complicações , Escoliose/fisiopatologia , Pessoas com Deficiência , Humanos , Limitação da Mobilidade , Qualidade de Vida
6.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 36(5): 769-776, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31631625

RESUMO

The purpose of this study is to reveal the protective effect of rib cage on scoliotic spine by comparing the different effect of rib cage on the stability of normal spine and Lenke1 scoliotic spine. Firstly, according to X-ray computed tomography (CT) image data, four spinal finite element models (SFEMs), including normal spine without rib cage (N1), normal spine with normal rib cage (N2), scoliotic spine without rib cage (S1) and scoliotic spine with deformed rib cage (S2), from the first thoracic vertebrae to the sacral vertebrae (T1~S) were established. Secondly, the natural vibration characteristics of the four SFEMs were obtained by modal analysis. Finally, the maximum vibration amplitudes of the four SFEMs under external excitation were obtained by steady-state analysis. As shown in results, compared with N1, the maximum deformation of N2 segment T4~T6 in the X -axis (coronal axis), Y -axis (sagittal axis) and Z -axis (vertical axis) directions decreases by 38.44%, 53.80% and 33.72%, respectively. Compared with S1, the maximum deformation of S2 segment T4~T6 in the X -axis direction, Y -axis direction and Z -axis directions decreases by 44.26%, increases by 32.80% and decreases by 49.23%, respectively. As it can be seen, for normal spine, the rib cage can improve the stability of the whole spine in three directions; for the Lenke1 scoliotic spine, the rib cage can reduce the vibration of the scoliotic spine in the X -axis and Z -axis directions and improves the stability of the whole spine in the two directions, while in the Y -axis direction, for the serious severe anteversion of scoliotic spine, the deformed rib cage exacerbates the vibration of the scoliotic spine in this direction and destroys the stability of the scoliotic spine in the Y -axis direction. This study reveals the biomechanical characteristics of rib caged influence on the stability of the scoliotic spine and it has guiding significance for the study of daily protection methods and protective tools for scoliotic patients.


Assuntos
Caixa Torácica , Escoliose/fisiopatologia , Coluna Vertebral , Fenômenos Biomecânicos , Análise de Elementos Finitos , Humanos , Vértebras Torácicas , Tomografia Computadorizada por Raios X , Vibração
7.
Medicine (Baltimore) ; 98(36): e17073, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31490408

RESUMO

Extremely severe scoliosis patients, especially main thoracic Cobb' s angle >150°, often have severe thoracic deformity and pulmonary dysfunction, even the scoliosis is reduced by halo-pelvic traction, the improvement of pulmonary function is not satisfactory, the risk of spinal osteotomy in the next stage is still very high and left with obvious thoracic deformity. How to further improve the pulmonary function and appearance of these patients is a difficult problem to be solved.Twenty extremely severe scoliosis patients with severe pulmonary dysfunction who underwent concave-side thoracoplasty in our hospital from September 2014 to September 2017 were included, data of thoracic volume and pulmonary function were collected before and after operation. The pulmonary function value reported was predicted forced vital capacity (FVC%), T-test was used to analyze the changes of the data by the statistical software SPSS21.0.The 20 patient's averaged Cobb's angle of main thoracic was 163° ± 8° at admission and all of them with severe pulmonary dysfunction before concave-side thracoplasty. After operation, the thoracic volume of patients increased by 500.9 ±â€Š222.9 mL, FVC% increased by 8.9% ±â€Š7.5%. Both the difference has statistical significance (P < .01).Concave-side thoracoplasty based on the halo-pelvic traction cannot only enlarge the volume of the concave thoracic cavity, lighten the compression of lung and further improve the pulmonary function of extremely severe scoliosis, but also can strengthen the correction of scoliosis and spinal rotation. Therefore, it is a safe and effective surgical approach.


Assuntos
Escoliose/cirurgia , Toracoplastia/métodos , Tração/métodos , Adolescente , Adulto , Feminino , Humanos , Pulmão/fisiopatologia , Masculino , Estudos Retrospectivos , Escoliose/fisiopatologia , Adulto Jovem
8.
BMC Musculoskelet Disord ; 20(1): 405, 2019 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-31484526

RESUMO

BACKGROUND: Postoperative neck tilt (PNT) is a phenomenon in adolescent idiopathic scoliosis (AIS) patients which is distinct form shoulder imbalance. There were scarce studies performed to explore the risk factors for PNT in Lenke 1 and 2 AIS patients, and whether it can be predicted after surgery remains unknown. The objective of this study is to explore the prevalence and risk factors for PNT, and introduce an index for prediction of PNT in Lenke 1 and 2 AIS patients after correction surgery. METHODS: Medical records of Lenke 1 and 2 AIS patients who received correction surgery were reviewed from February 2013 to February 2015. Posteroanterior films were evaluated before surgery and at 2 years' follow-up. Patients were divided into two groups according to whether PNT occurred at the 2 years' follow-up. Risk factors of PNT were analyzed, and PNT Index was proposed and verified. RESULTS: One hundred two Lenke 1 and 2 AIS patients were recruited in this study. The prevalence of PNT after correction was 40.2%. According to the postoperative CAT (Cervical Axis Tilt), patients were divided into two group: PNT group (CAT≧5°, n = 41) and non-PNT group (CAT< 5°, n = 61). Postoperative T1 tilt, preoperative proximal thoracic curve (PTC), postoperative PTC and postoperative coronal balance (CB) were significantly different between two groups. Logistic regression showed that postoperative PTC and postoperative CB were the primary risk factors for PNT, which could be predicted by the regression equation: PNT Index = 1.1 x postoperative PTC (degrees) - 0.9 x postoperative CB (millimeters). On the basis of ROC curve, if PNT Index was more than 10, the occurrence rate of PNT was 86%. On the contrary, the rate of no PNT phenomenon was 80%. CONCLUSION: Postoperative PTC and postoperative CB were the important factors for PNT in Lenke 1 and 2 AIS patients. Sufficient correction of PTC and moderate correction of CB should be recommended when operating on Lenke1 and 2 AIS patients.


Assuntos
Pescoço/fisiopatologia , Complicações Pós-Operatórias/diagnóstico , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Adolescente , Criança , Feminino , Seguimentos , Humanos , Masculino , Parafusos Pediculares , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Equilíbrio Postural/fisiologia , Período Pré-Operatório , Prevalência , Prognóstico , Qualidade de Vida , Estudos Retrospectivos , Fatores de Risco , Escoliose/diagnóstico por imagem , Escoliose/fisiopatologia , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Resultado do Tratamento , Adulto Jovem
9.
BMC Musculoskelet Disord ; 20(1): 370, 2019 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-31409412

RESUMO

BACKGROUND: Scoliosis is a serious disease that can affect all segments of society. Few studies have investigated the response to vibration of differing sinusoidal axial cyclic loading frequencies for different forms of scoliosis in the lumbar spine. METHODS: In this study, four finite element models, comprising a healthy spine, Lenke-A, Lenke-B and Lenke-C scoliosis of the lumbar S1-L1 region were developed. Modal analysis extracted resonant frequencies of the FE models with an upper body mass of 40 kg and 400 N preload. A transient dynamic analysis was performed to obtain the response to vibration of models under a sinusoidal axial loading of ± 40N at frequencies of 3, 5, 7, 9, 11 and 13 Hz using an upper body mass of 40 kg and 400 N preload. RESULTS: The first-order resonant frequencies of healthy, Lenke-A, Lenke-B and Lenke-C spines were 9.2, 3.9, 4.6 and 5.7 Hz, respectively. A Lenke-A lumbar spine was more likely to deform at a lower vibration frequency and Lenke-C deformed more easily at a higher vibration frequency. Furthermore, the vibration amplitude in the Y-direction (left-right) was greatest and least in the Z-direction (top-bottom). The frequency of cyclic loading closest to the resonant frequency resulted in a maximum value of peak-to-peak vibrational displacement. Furthermore, the vibrational amplitudes in patients with scoliosis were larger than they were in healthy subjects. In addition, axial displacement of the vertebrae in the healthy spine changed steadily whereas fluctuations in the scoliotic vertebrae in scoliosis patients were greater than that of other vertebrae. CONCLUSIONS: Different forms of scoliosis may have different vibrational characteristics, the scoliotic vertebrae being the weak link in scoliosis under loading condition of whole body vibration. Scoliosis was more sensitive to this form of vibration. Where the frequency of axial cyclic vibrational loading of the lumbar spine was closer to its resonant frequency, the vibrational amplitude was larger. These results suggest that vibration will exacerbate the degree of scoliosis and so such patients should reduce their exposure to vibration. Clinical treatment should pay attention to the scoliotic vertebrae and reduce their vibration. These findings may assist in the clinical prevention and treatment of scoliosis.


Assuntos
Vértebras Lombares/fisiopatologia , Modelos Biológicos , Sacro/fisiopatologia , Escoliose/fisiopatologia , Vibração/efeitos adversos , Fenômenos Biomecânicos , Simulação por Computador , Análise de Elementos Finitos , Voluntários Saudáveis , Humanos , Masculino , Modalidades de Fisioterapia , Escoliose/terapia , Estresse Mecânico , Suporte de Carga/fisiologia
10.
Spine (Phila Pa 1976) ; 44(20): 1441-1448, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31365514

RESUMO

STUDY DESIGN: A prospective study of cardiopulmonary function in patients with congenital scoliosis (CS). OBJECTIVE: To investigate the relationship of thoracic cage deformity and exercise tolerance in CS patients. SUMMARY OF BACKGROUND DATA: Congenital thoracic scoliosis and chest deformity lead to restrictive pulmonary dysfunction and in some severe cases cause cardiopulmonary failure. However, it is still unknown the relationship between thoracic deformity and exercise performance. METHODS: Patients with congenital thoracic spinal deformity were included and had radiological assessment of thoracic cage, pulmonary function testing, and cardiopulmonary exercise testing. Thoracic dimension including height, width, and depth were measured and geometry parameters were calculated. Two-tailed Pearson and Spearman correlation test and linear regression analysis were performed to investigate correlation of radiographic parameters, pulmonary function, and physical capacity. RESULTS: Sixty patients (41 females and 19 males) were included, with an average age of 18.9 years. Patients with smaller thoracic height (P < 0.001) and width (P < 0.01) and larger depth (P < 0.05) had significantly worse static pulmonary function. In exercise testing, these patients showed significant tendency of ventilation insufficiency, including lower minute ventilation (P < 0.05), faster breathing frequency (P < 0.05), and smaller tidal volume (P < 0.01). Thoracic depth was negatively correlated to exercise capacity, reflected by work rate (P < 0.001), peak oxygen intake (P < 0.001), and heart rate (P = 0.043). Patients with abnormal thoracic geometry, especially a lower ratio of height to depth and a lower ratio of width to depth, have significantly worse static pulmonary function and exercise capacity (all P < 0.05). CONCLUSION: Decreasing thoracic height and width results in restrictive pulmonary dysfunction. Distortion and asymmetry of the thoracic cage are associated with abnormal breathing pattern and reduction of exercise capacity. LEVEL OF EVIDENCE: 3.


Assuntos
Teste de Esforço/métodos , Pulmão/diagnóstico por imagem , Caixa Torácica/anormalidades , Caixa Torácica/diagnóstico por imagem , Escoliose/diagnóstico por imagem , Adolescente , Adulto , Exercício/fisiologia , Feminino , Humanos , Pulmão/fisiopatologia , Masculino , Estudos Prospectivos , Testes de Função Respiratória/métodos , Caixa Torácica/fisiologia , Escoliose/fisiopatologia , Adulto Jovem
11.
J Orthop Surg Res ; 14(1): 264, 2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31451116

RESUMO

BACKGROUND: To investigate the incidence of scoliosis and trunk shift in patients with LDH (lumbar disc herniation) and analyze the differences in spinopelvic alignment among patients with or without trunk shift and non-symptom controls. MATERIALS AND METHODS: All included subjects had standard upright antero-posterior and lateral radiographs of the whole spine taken. Evidence of disc herniation was confirmed by computed tomography or magnetic resonance imaging. The parameters measured included trunk shift and Cobb angle, TK (thoracic kyphosis), TLK (thoraco-lumbar junction kyphosis), LL (lumbar lordosis), PI (pelvic incidence), SS (sacral slope), PT (pelvic tilt) and SVA (sagittal vertical axis). RESULTS: Sixty-eight patients with LDH and 61 controls were included. There were significantly more male patients with trunk shift than the patients without trunk shift. Forty-two patients had curve magnitudes ranging from 5 to 38°. The trunk shift ranged from 0.5 to 7.3 cm. A total of 54.76% of patients had a disc herniation on the concave side of the main curve. Fifty percent of patients showed a trunk shift towards the opposite side of disc herniation. There were significant differences in spinopelvic parameters among groups. Significant correlations were also observed between several spinopelvic parameters in the three groups. However, the degrees of correlations among the spinopelvic parameters differed among the three groups. CONCLUSION: Spinal sagittal morphology in LDH patients with trunk shift exhibits a more anterior shift of the C7 plumb line, less LL, and a more horizontal sacrum. Correlation analysis indicated a disharmonious spinopelvic interaction and a change in the compensatory model in patients with LDH.


Assuntos
Deslocamento do Disco Intervertebral/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Postura/fisiologia , Escoliose/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Deslocamento do Disco Intervertebral/fisiopatologia , Vértebras Lombares/fisiologia , Masculino , Pessoa de Meia-Idade , Sacro/diagnóstico por imagem , Sacro/fisiologia , Escoliose/fisiopatologia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/fisiologia , Adulto Jovem
12.
Neurology ; 93(13): e1241-e1247, 2019 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-31451515

RESUMO

OBJECTIVE: To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed with the Hammersmith Functional Motor Scale-Expanded. METHODS: Seventy-three patients (age 2.6-25 years) were included in the study. Twenty-eight of the 73 were first assessed before the age of 5 years and had been followed up for ≈5 years or longer. We observed an overall progression that was not linear. A piecewise regression analysis showed an improvement of scores in the younger patients with a point of slope change at ≈5 years of age, a decline between 5 and 13 years of age, and stability/slower decline after that. RESULTS: Patients with the lowest scores at baseline had the earliest onset of scoliosis and a higher need for noninvasive ventilation compared to those with higher scores. Our results confirm that on the long-term follow-up all patients with type II SMA show a clear and progressive decline. CONCLUSION: The severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression, including onset of scoliosis and need for noninvasive ventilation.


Assuntos
Progressão da Doença , Atrofia Muscular Espinal/fisiopatologia , Atrofias Musculares Espinais da Infância/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Atrofia Muscular Espinal/diagnóstico , Estudos Retrospectivos , Escoliose/diagnóstico , Escoliose/fisiopatologia , Tempo , Adulto Jovem
13.
Spine (Phila Pa 1976) ; 44(17): E1031-E1037, 2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31261265

RESUMO

STUDY DESIGN: Retrospective review of a prospectively collected multicenter database. OBJECTIVE: To assess how "overcorrection" of the main thoracic curve without control of the proximal curve increases the risk for shoulder imbalance in Lenke type 1 Adolescent Idiopathic Scoliosis (AIS). SUMMARY OF BACKGROUND DATA: Postop shoulder imbalance is a common complication following AIS surgery. It is thought that a more cephalad upper-instrumented vertebra (UIV) decreases the risk of shoulder imbalance in Lenke type 1 and 2 curves; however, this has not been proven. METHODS: Thirteen surgeons reviewed preop and 5-year postop clinical photos and PA radiographs of patients from a large multicenter database with Lenke type 1 and 2 AIS curves who were corrected with pedicle screw/rod constructs. Predictors of postop shoulder imbalance were identified by univariate analysis; multivariate analysis was done using the classification and regression tree method to identify independent drivers of shoulder imbalance. RESULTS: One hundred forty-five patients were reviewed. The UIV was T3-T5 in 87% of patients, with 8.9% instrumented up to T1 or T2. Fifty-two (36%) had shoulder imbalance at 5 years. On classification and regression tree analysis when the proximal thoracic (PT) Cobb angle was corrected more than 52%, 80% of the patients had balanced shoulders. Similarly, when the PT curve was corrected less than 52% and the main thoracic (MT) curve was corrected less than 54%, 87% were balanced. However, when the PT curve was corrected less than 52%, and the MT curve was corrected more than 54%, only 41% of patients had balanced shoulders (P = 0.05). This relationship was maintained regardless of the UIV level. CONCLUSION: In Lenke type 1 and 2 AIS curves, significant correction of the main thoracic curve (>54%) with simultaneous "under-correction" (<52%) of the upper thoracic curve resulted in shoulder height imbalance in 59% of patients, regardless of the UIV. This suggests the PT curve must be carefully scrutinized in order to optimize shoulder balance, especially when larger correction of the MT curve is performed. LEVEL OF EVIDENCE: 2.


Assuntos
Procedimentos Ortopédicos , Escoliose , Adolescente , Humanos , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/métodos , Procedimentos Ortopédicos/estatística & dados numéricos , Complicações Pós-Operatórias , Estudos Retrospectivos , Escoliose/epidemiologia , Escoliose/fisiopatologia , Escoliose/cirurgia , Vértebras Torácicas/cirurgia
14.
Rev Paul Pediatr ; 37(2): 225-233, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31340348

RESUMO

OBJECTIVE: To evaluate the chest wall shape in patients with adolescent idiopathic scoliosis (AIS) in comparison to healthy subjects and the association between the chest wall shape with the spine deformity and lung function in patients with AIS. METHODS: This cross-sectional study enrolled 30 AIS patients and 20 healthy subjects aged 11-18 years old. The Cobb angle evaluation was performed in AIS patients. The chest wall shape was assessed by the photogrammetry method, using the Postural Assessment Software (PAS). We created thoracic markers shaped as angles (A) and distances (D), as follows: A2 (right acromion/xiphoid/left acromion), A4L (angle formed between the outer point of the smallest waist circumference and its upper and lower edges on the left side), A7 (angle formed by the intersection of the tangent segments of the upper and lower scapulae angles), D1R/D1L [distance between the xiphoid process and the last false rib on the right (R) and left (L) sides], and D3 (distance between xiphoid process and anterior superior iliac spine). RESULTS: The thoracic markers A2 and A7 were significantly higher, while the A4L and D1R/D1L were significantly reduced in the AIS group compared to the control. Moderate correlations were found between: A2 and the main and proximal thoracic Cobb angles (r=0.50, r=0.47, respectively); D1R/D1L and the main thoracic Cobb angle (r=- 0.40); and the forced expiratory volume in the first second (FEV1) and D3R (r=0.47). CONCLUSIONS: The photogrammetry method was able to detect chest wall changes in AIS patients, besides presenting correlation between Cobb angles and lung function.


Assuntos
Fotogrametria/métodos , Escápula , Escoliose , Vértebras Torácicas , Parede Torácica , Adolescente , Antropometria/métodos , Brasil , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Testes de Função Respiratória/métodos , Escoliose/diagnóstico , Escoliose/patologia , Escoliose/fisiopatologia , Parede Torácica/patologia , Parede Torácica/fisiopatologia
15.
BMC Musculoskelet Disord ; 20(1): 319, 2019 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-31286903

RESUMO

BACKGROUND: The Cobb angle is proposed as the "disease process" outcome for scoliosis research because therapies aim to correct or stop curve progression. While the Scoliosis Research Society recommends the Cobb angle as the primary outcome, the Society on Scoliosis Orthopaedic and Rehabilitation Treatment prioritises, as a general goal, patient related outcomes over Cobb angle progression. OBJECTIVE: To determine the threshold of change in the Cobb angle in adolescents with idiopathic scoliosis (AIS) who perceive improvement in a 6-months randomized controlled trial comparing a Schroth exercise intervention added to the standard of care to the standard of care alone. METHODS: This is a secondary analysis of data from a randomized controlled trial of 50 patients with AIS, with curves ranging from 10° to 45°, with or without a brace. Participants with diagnoses other than AIS, surgical candidates or patients who had scoliosis surgery were excluded. The 6-month interventions consisted of Schroth exercises added to standard-of-care (observation or bracing) with daily home exercises and weekly therapy sessions (Schroth) or standard-of-care alone (Control). The anchor method for estimating the minimal important difference (MID) in the largest Cobb angles (LC) was used. Patient-reported change in back status over the 6-month treatment period was measured using the Global Rating of Change (GRC) scale as anchor varying from - 7 ("great deal worse") to + 7 ("great deal better"). Participants were divided into two groups based on GRC scores: Improved (GRC ≥2) or Stable/Not Improved (GRC ≤1). MID was defined as the change in the LC that most accurately predicted the GRC classification as per the receiver operating characteristic curve (ROC). RESULTS: The average age was 13.4 ± 1.6 years and the average LC was 28.5 ± 8.8 °s. The average GRC in the control group was - 0.1 ± 1.6, compared to + 4.4 ± 2.2 in the Schroth group. The correlation between LC and GRC was adequate (r = - 0.34, p < 0.05). The MID for the LC was 1.0 °. The area under the ROC was 0.69 (0.52-0.86), suggesting a 70% chance to properly classify a patient as perceiving No Improvement/Stable or Improvement based on the change in the LC. CONCLUSION: Patients undergoing Schroth treatment perceived improved status of their backs even if the Cobb angle did not improve beyond the conventionally accepted threshold of 5°. Standard of care aims to slow/stop progression while Schroth exercises aim to improve postural balance, signs and symptoms of scoliosis. Given the very small MID, perceived improvement in back status is likely due to something other than the Cobb angle. This study warrants investigating alternatives to the Cobb angle that might be more relevant to patients. TRIAL REGISTRATION: ClinicalTrials.gov , NCT01610908 . Retrospectively registered on April 2, 2012 (first posted on June 4, 2012 - https://clinicaltrials.gov/ct2/keydates/NCT01610908 ).


Assuntos
Terapia por Exercício/métodos , Equilíbrio Postural/fisiologia , Escoliose/terapia , Adolescente , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Escoliose/diagnóstico por imagem , Escoliose/fisiopatologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Padrão de Cuidado , Resultado do Tratamento
16.
Medicine (Baltimore) ; 98(28): e16389, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31305444

RESUMO

INTRODUCTION: Various phenotypes have been identified for MYH7 gene mutation-related myopathy. Here, we describe a patient with severe muscular weakness and skeletal deformity with de novo heterozygous MYH7 gene mutation. PATIENT CONCERNS: A 33-year-old woman presented with early onset of muscular weakness, with delayed motor development during infancy. At age 8 years, she was unable to walk, with signs of skeletal deformity, including the progression of kyphoscoliosis. At age 31 years, she developed dyspnea. DIAGNOSIS: She diagnosed with esophageal hiatal hernia with abdominal CT. In electromyography, short duration, small amplitude motor unit action potential (MUAP), and early recruitment patterns were observed in the involved proximal muscles, suggesting myopathy. Muscle histopathology showed fiber-type disproportion. INTERVENTIONS: Next-generation sequencing study revealed a heterozygous in-frame deletion variation in the exon 14 of the MYH7 gene (c.1498_1500del/p.Glu500del), which is a novel variation confirmed by conventional Sanger sequencing. Compared with the parental test, this variant was concluded as de novo. OUTCOMES: She received laparoscopic hiatal hernia repair and Nissen fundoplication for esophageal hiatal hernia. After surgery, her postural dyspnea improved. As there is no fundamental treatment for MYH7-related myopathies, she continued conservative treatment for her symptoms. CONCLUSION: Here, we presented a rare case of de novo mutation of the myosin head domain in the MYH7 gene. This report broadens both the phenotypic and genotypic spectra of MYH7-related myopathies.


Assuntos
Miosinas Cardíacas/genética , Cifose/genética , Debilidade Muscular/genética , Mutação , Cadeias Pesadas de Miosina/genética , Escoliose/genética , Adulto , Idade de Início , Dispneia/etiologia , Dispneia/genética , Dispneia/cirurgia , Feminino , Humanos , Cifose/fisiopatologia , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Fenótipo , Escoliose/fisiopatologia
17.
J Bone Joint Surg Am ; 101(12): 1109-1118, 2019 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-31220028

RESUMO

BACKGROUND: Patients with congenital scoliosis often have restrictive pulmonary dysfunction on static pulmonary function testing (PFT). Although frequently asymptomatic during daily activities, these patients are generally assumed to have reduced exercise capacity. The aim of this study was to use dynamic cardiopulmonary exercise testing (CPET) to investigate exercise capacity and its association with spinal deformity in patients with congenital scoliosis. METHODS: Sixty patients with congenital scoliosis who underwent preoperative spinal radiography, PFT, and CPET were included from January 2014 to November 2017. The impact of thoracic spinal deformity and rib anomalies on pulmonary function and physical capacity was investigated. RESULTS: A significant deterioration in pulmonary function with increases in the severity of the major thoracic curve was demonstrated by the forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and total lung capacity (all p < 0.001). The ratio of FEV1 to FVC was similar regardless of thoracic curve severity. A smaller tidal volume during exercise testing reflected restrictive dysfunction in the patients with the most severe curves. CPET also revealed a significant trend of faster breathing by patients with a severe thoracic curve (p < 0.001). Exercise capacity indicators such as work rate (p = 0.019), heart rate (p = 0.015), and oxygen saturation (p = 0.006) were significantly reduced only in patients with a thoracic curve of >100°. Pulmonary dysfunction was the major contributor to exercise intolerance. Compared with mild pulmonary dysfunction, moderate and severe dysfunction was associated with an abnormal breathing pattern and lower work rate (p = 0.032) and peak oxygen intake (p = 0.042), indicating worse exercise tolerance. CONCLUSIONS: Congenital scoliosis leads to restrictive pulmonary dysfunction, which reduces the tidal volume and forces patients to accelerate respiratory rates during exercise. Patients with a thoracic curve of >100° are unable to compensate and have significantly reduced exercise capacity. LEVEL OF EVIDENCE: Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.


Assuntos
Tolerância ao Exercício/fisiologia , Pulmão/fisiologia , Escoliose/fisiopatologia , Adolescente , Adulto , Criança , Teste de Esforço , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Masculino , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/fisiopatologia , Capacidade Vital/fisiologia , Adulto Jovem
18.
Yale J Biol Med ; 92(2): 205-212, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31249481

RESUMO

The correct expression of circadian rhythmicity, together with a good sleep behavior, are key factors for the body homeostasis. Rest-activity circadian rhythms (RARs) are involved in the control of the sleep-wake cycle and altered RARs could lead to a compromised health status. Therefore, we aimed to investigate the existence of RAR and to study actigraphy-based sleep behavior in a 14-year-old male patient affected by severe idiopathic scoliosis and treated with a rigid brace 23 hours per day. RAR and sleep parameters were studied through actigraphy for seven consecutive days in July 2018. The mean cosinor analysis revealed the presence of a significant RAR (p < 0.001), specifically: the percentage of rhythm was 23.4%, the mean MESOR was 84.6 Activity Count (AC), the amplitude registered a mean value of 74.4 AC's, and the acrophase occurred at 17:56 h. The subject reached a good sleep quantity: 507.9 ± 30.2 minutes of Time in Bed with a mean Total Sleep Time of 450.7 ± 20.1 minutes; Similarly, Sleep Efficiency was equal to 83.3 ± 7.2% and the Fragmentation Index was 27.3 ± 12.8%. We observed that both RAR and sleep behavior had normal trends in a 14-year-old patient treated with a rigid brace for a severe adolescent idiopathic scoliosis (AIS). Improved assessment of sleep in routine clinical practice can help to identify and manage health-related problems that could potentially affect some clinical outcomes, such as pain, mood state, and recovery process.


Assuntos
Actigrafia/métodos , Braquetes , Ritmo Circadiano/fisiologia , Descanso/fisiologia , Escoliose/terapia , Sono/fisiologia , Adolescente , Humanos , Masculino , Escoliose/fisiopatologia , Vigília/fisiologia
19.
Anesth Analg ; 129(1): 184-191, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31210654

RESUMO

BACKGROUND: Preoperative pulmonary function tests are routinely obtained in children with scoliosis undergoing posterior spinal fusion despite unclear benefits as a perioperative risk assessment tool and frequent inability of patients to provide acceptable results. The goal of this study was to determine whether preoperative pulmonary function test results are associated with the need for postoperative intubation or intensive care unit admission after posterior spinal fusion. METHODS: The electronic medical records of patients who underwent posterior spinal fusion at a pediatric tertiary hospital between June 2012 and August 2017 were reviewed. Pulmonary function tests were consistently ordered for all patients, unless the patient was deemed unable to perform the test due to cognitive disability. Cases were categorized as primary or secondary scoliosis.Demographic data, preoperative bilevel positive airway pressure use, Cobb angle, intraoperative allogeneic blood transfusion, and ability to produce acceptable pulmonary function test results were collected for each patient. In patients with satisfactory pulmonary function test results, forced vital capacity and maximum inspiratory pressure were collected. Primary outcomes for analysis were postoperative intubation and intensive care unit admission. Univariable logistic regression models were used to assess the association between each variable of interest and the primary outcomes. RESULTS: The study sample included 433 patients, 288 with primary scoliosis and 145 with secondary scoliosis. Among patients with primary scoliosis, 90% were able to produce acceptable pulmonary function test results, zero remained intubated postoperatively, and 6 were admitted to the intensive care unit. Among patients with secondary scoliosis, 44% could not attempt pulmonary function tests. Among those who did attempt the test, 30% were unable to produce meaningful results. Forced vital capacity and maximum inspiratory pressure were not found to be associated with postoperative intubation or intensive care unit admission. Weight, Cobb angle, intraoperative blood transfusion, American Society of Anesthesiologists physical status classification, and preoperative bilevel positive airway pressure use were associated with patient outcomes. Among 357 total patients who attempted pulmonary function tests, 37 had high-risk results. Only 1 of these 37 patients remained intubated postoperatively. CONCLUSIONS: Patients undergoing posterior spinal fusion, especially those with secondary scoliosis, are frequently unable to adequately perform pulmonary function tests. Among patients with interpretable pulmonary function tests, there was no association between results and postoperative intubation or intensive care unit admission. Routine pulmonary function testing for all patients with scoliosis may not be indicated for purposes of risk assessment before posterior spinal fusion. Clinicians should consider a targeted approach and limit pulmonary function tests to patients for whom results may guide preoperative optimization as this may improve outcomes and reduce inefficiencies and costs.


Assuntos
Intubação Intratraqueal , Pulmão/fisiopatologia , Testes de Função Respiratória , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Adolescente , Fatores Etários , Extubação , Criança , Cuidados Críticos , Registros Eletrônicos de Saúde , Feminino , Humanos , Masculino , Pressões Respiratórias Máximas , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/terapia , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Escoliose/diagnóstico por imagem , Escoliose/fisiopatologia , Resultado do Tratamento , Capacidade Vital
20.
Neurology ; 93(2): e149-e158, 2019 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-31164393

RESUMO

OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA). METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center. RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery. CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.


Assuntos
Atrofia Muscular Espinal/fisiopatologia , Escoliose/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Atrofia Muscular Espinal/complicações , Procedimentos Ortopédicos/normas , Escoliose/etiologia , Escoliose/cirurgia , Adulto Jovem
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