Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 39
Filtrar
Mais filtros

Medicinas Complementares
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Hosp Pediatr ; 10(3): 257-265, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32079619

RESUMO

OBJECTIVES: Neuromuscular scoliosis (NMS) can result in severe disability. Nonoperative management minimally slows scoliosis progression, but operative management with posterior spinal fusion (PSF) carries high risks of morbidity and mortality. In this study, we compare health and economic outcomes of PSF to nonoperative management for children with NMS to identify opportunities to improve care. METHODS: We performed a cost-effectiveness analysis. Our decision analytic model included patients aged 5 to 20 years with NMS and a Cobb angle ≥50°, with a base case of 15-year-old patients. We estimated costs, life expectancy, quality-adjusted life-years (QALYs), and incremental cost-effectiveness from published literature and conducted sensitivity analyses on all model inputs. RESULTS: We estimated that PSF resulted in modestly decreased discounted life expectancy (10.8 years) but longer quality-adjusted life expectancy (4.84 QALYs) than nonoperative management (11.2 years; 3.21 QALYs). PSF costs $75 400 per patient. Under base-case assumptions, PSF costs $50 100 per QALY gained. Our findings were sensitive to quality of life (QoL) and life expectancy, with PSF favored if it significantly increased QoL. CONCLUSIONS: In patients with NMS, whether PSF is cost-effective depends strongly on the degree to which QoL improved, with larger improvements when NMS is the primary cause of debility, but limited data on QoL and life expectancy preclude a definitive assessment. Improved patient-centered outcome assessments are essential to understanding the effectiveness of NMS treatment alternatives. Because the degree to which PSF influences QoL substantially impacts health outcomes and varies by patient, clinicians should consider shared decision-making during PSF-related consultations.


Assuntos
Análise Custo-Benefício , Custos de Cuidados de Saúde/estatística & dados numéricos , Doenças Neuromusculares/complicações , Qualidade de Vida , Anos de Vida Ajustados por Qualidade de Vida , Escoliose/cirurgia , Fusão Vertebral/economia , Adolescente , Criança , Pré-Escolar , Tratamento Conservador/economia , Técnicas de Apoio para a Decisão , Feminino , Humanos , Expectativa de Vida , Masculino , Modelos Econômicos , Doenças Neuromusculares/economia , Escoliose/economia , Escoliose/etiologia , Escoliose/terapia , Fusão Vertebral/métodos , Resultado do Tratamento , Estados Unidos , Adulto Jovem
2.
Eur Spine J ; 28(7): 1618-1625, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30515558

RESUMO

PURPOSE: We investigated the involvement of sarcopenia in middle-aged and elderly women with degenerative lumbar scoliosis (DLS). METHODS: A total of 971 women (mean age 70.4 years) were included in our study. These included 87 cases of DLS (mean 73.8 years) and 884 controls (69.8). Lumbar and femur BMD was measured for all participants using dual-energy X-ray absorptiometry. We used a bioelectrical impedance analyzer to analyze body composition, including appendicular skeletal muscle mass index (SMI; appendicular lean mass (kg)/(height (m))2. We determined bone density and skeletal muscle mass in both groups and determined the prevalence of sarcopenia. We examined the correlation between bone density and appendicular muscle mass in both groups. We also examined factors related to scoliosis using logistic regression analysis. RESULTS: The DLS group showed significantly higher lumbar BMD, lower femur BMD, lower lean mass arm, and lower lean mass leg, and lower lean mass trunk (p < 0.05). Sarcopenia prevalence (SMI < 5.75) was 59.8% in DLS subjects and 42.8% in controls, revealing a high prevalence in DLS (p < 0.05). In both groups, lumbar and femur BMD were positively correlated with appendicular muscle mass. By logistic regression analysis, trunk muscle mass was detected as a risk factor for DLS independent of age (p < 0.05). CONCLUSIONS: In middle-aged and elderly women, prevalence of sarcopenia was 59.8% in DLS cases and 42.8% in controls, which revealed a high prevalence in DLS. A decrease in trunk muscle was a significant risk factor for DLS that was independent of age. These slides can be retrieved under Electronic Supplementary Material.


Assuntos
Sarcopenia/complicações , Escoliose/etiologia , Absorciometria de Fóton , Adulto , Idoso , Idoso de 80 Anos ou mais , Densidade Óssea , Estudos de Casos e Controles , Estudos Transversais , Feminino , Fêmur/diagnóstico por imagem , Humanos , Modelos Logísticos , Vértebras Lombares/diagnóstico por imagem , Região Lombossacral , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Sarcopenia/diagnóstico , Sarcopenia/epidemiologia
3.
Medicine (Baltimore) ; 97(15): e0278, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29642148

RESUMO

RATIONALE: Progressive restriction of the spinal bio-mechanics is not-uncommon deformity encountered in spine clinics. Congenital spinal fusion as seen in Klippel-Feil-anomaly, progressive non-infectious anterior vertebral fusion, and progressive spinal hyperostosis secondary to ossification of the anterior longitudinal spinal ligament are well delineated and recognized. PATIENT CONCERNS: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular fractures and scoliosis. Recently she presented with episodes of severe back pain, spinal rigidity/stiffness with total loss of spine biomechanics. DIAGNOSES: She was provisionally diagnosed as having osteogenesis imperfecta and was investigated for COL1A1/A2 mutations which have been proven to be negative. Autosomal recessive type of osteogenesis imperfecta was proposed as well, no mutations have been encountered. A homozygous for CTSA gene mutation, the gene associated with Galactosialidosis was identified via whole exome sequencing (Next-Generation Sequencing projects) has been identified. INTERVENTIONS: Early in her life she had a history of frequent fractures of the long bones since she was 4 years which was followed by vertebral fractures at the age of 12 years. She manifested lower serum 25OH-D levels and were associated with lower LS-aBMD Z-scores with higher urinary bone turnover indexes (urinary NTX/Cr). OUTCOMES: Lysosomal storage diseases (LSD) have a strong correlation with the development of osteoporosis. LSD causes skeletal abnormalities results from a lack of skeletal remodeling and ossification abnormalities owing to abnormal deposition of GAGs (impaired degradation of glycosaminoglycans ) in bone and cartilage. 3D reconstruction CT scan of the spine showed diffuse hyperostosis of almost the entire spine (begins at the level of T4- extending downwards to involve the whole thoraco-lumbar and upper part of the sacrum) with total diffuse fusion of the pedicles, the transverse and articular processes, the laminae and the spinous processes. LESSONS: This is the first clinical report of adult patient with a history of osteoporosis and fractures with the late diagnosis of Galactosialidosis. Osteogenesis imperfecta (autosomal dominant and recessive) were the first given diagnoses which proven negative. The pathophysiology of the spine ankylosis in our current patient and its correlation with LSD, antiresorptive medications, vitamin D3 and supplemental calcium is not fully understood. Therefore, further studies are needed to elucidate this sort of correlation.


Assuntos
Anquilose , Catepsina A/genética , Doenças por Armazenamento dos Lisossomos , Osteogênese Imperfeita/diagnóstico , Doenças da Coluna Vertebral , Anquilose/diagnóstico , Anquilose/etiologia , Anquilose/fisiopatologia , Remodelação Óssea , Diagnóstico Diferencial , Gerenciamento Clínico , Feminino , Fraturas Ósseas/diagnóstico , Fraturas Ósseas/etiologia , Humanos , Imageamento Tridimensional/métodos , Doenças por Armazenamento dos Lisossomos/complicações , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/genética , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Mutação , Osteoporose/diagnóstico , Osteoporose/etiologia , Escoliose/diagnóstico , Escoliose/etiologia , Doenças da Coluna Vertebral/diagnóstico , Doenças da Coluna Vertebral/etiologia , Doenças da Coluna Vertebral/fisiopatologia , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
4.
J Pediatr Orthop ; 38(5): e278-e284, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29521937

RESUMO

BACKGROUND: For large scoliosis, 2 strategies to maximize correction include intraoperative traction and/or anterior release. It is unclear which patients will benefit the most form either approach. The purpose of our study is to compare the radiographic, perioperative clinical outcomes, and health-related quality of life (HRQoL) outcomes of 2 approaches when used in severe neuromuscular scoliosis in the setting of cerebral palsy (CP). METHODS: In total, 23 patients with minimum 2-year follow-up, major curves ≥100 degrees, and in whom treatment included posterior spinal fusion were evaluated. Eighteen were treated with posterior spinal fusion with intraoperative traction and 5 with anterior/posterior spinal fusion (APSF). The baseline characteristics, perioperative outcomes, and preoperative and 2-year follow-up data for HRQoL and radiographic measures were compared. RESULTS: The groups had similar age, sex, nutritional and seizure status, GMFCS level, and change in CPCHILD scores. The groups had similar curve magnitude (120 vs. 105 degrees, P=0.330) and flexibility (28% vs. 40%, P=0.090), but the APSF group had less pelvic obliquity (POB) (24 vs. 42 degrees, P=0.009). There were similar postoperative major curves (37 vs. 40 degrees, P=0.350), but greater correction in POB (33.5 vs. 14 degrees of correction, P=0.007) in the traction group. The APSF group had longer anesthesia times (669 vs. 415 min, P=0.005), but similar hospital stays, intensive care unit and days intubated, estimated blood loss, cell saver, and red blood cells used. Although the APSF group had twice the rate of complications (22% vs. 40%) during the first 90 days postoperatively, this did not reach statistical significance. CONCLUSIONS: Both intraoperative traction and anterior surgery were used to aid correction in severe CP scoliosis. Anterior surgery did not offer superior correction or better HRQoL, and was associated with increased operative times, whereas intraoperative traction was associated with greater correction of POB. Intraoperative traction may be a viable alternative to an anterior release in severe CP scoliosis. LEVEL OF EVIDENCE: Level II.


Assuntos
Paralisia Cerebral/complicações , Qualidade de Vida , Escoliose , Fusão Vertebral/métodos , Adolescente , Adulto , Paralisia Cerebral/psicologia , Criança , Feminino , Seguimentos , Humanos , Masculino , Período Pós-Operatório , Radiografia/métodos , Radiografia/estatística & dados numéricos , Estudos Retrospectivos , Escoliose/diagnóstico , Escoliose/etiologia , Escoliose/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Tração/métodos , Resultado do Tratamento
5.
World Neurosurg ; 112: e431-e441, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29355795

RESUMO

OBJECTIVE: To evaluate the optimal timing and type of surgical treatment of myelomeningocele (MMC)-related spinal deformities and long-term follow-up of surgical treatment. METHODS: We reviewed and presented clinical pictures, treatment strategies and results of 20 patients with MMC-related spinal deformities treated at our center between 2010 and 2017. RESULTS: The average patient age was 6.3 years. The average preoperative neurologic status according to a modified Japan Orthopedic Association (mJOA) scale was 7.3 points (Benzel's modification). Average functional status was 41 points according to a functional independent measure scale (FIM). The average angle of kyphosis was 83.7°, that of scoliosis was 36.7°, and that of lordosis was 67° (Cobb angles). The average duration of surgery was 234 minutes, and the average total blood loss was 175 mL. The average angle of kyphosis correction was 61°, that of scoliosis correction was 25°, and that of lordosis correction was 25° (Cobb angles). The average duration of hospitalization was 16.6 days, and the average follow-up was 34.5 months. The total number of complications was 13. Reoperation was required in 9 cases. Neurologic status according to the mJOA scale improved by 0.6 point on average. Functional status according to the FIM increased by 6.6 points on average. CONCLUSIONS: Early surgical correction of MMC-related spinal deformities improves body balance and quality of life. The dual growing rod technique is safe and effective in cases of moderate neuromuscular spinal deformities at an early age. Kyphectomy is a challenging procedure with high complication rates, especially skin problems, but there are no alternative procedures for cases of heavy rigid kyphosis.


Assuntos
Cifose/cirurgia , Lordose/cirurgia , Meningomielocele/cirurgia , Procedimentos Neurocirúrgicos/métodos , Escoliose/cirurgia , Coluna Vertebral/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Cifose/etiologia , Lordose/etiologia , Masculino , Meningomielocele/complicações , Equilíbrio Postural , Implantação de Prótese , Qualidade de Vida , Estudos Retrospectivos , Escoliose/etiologia , Resultado do Tratamento , Adulto Jovem
6.
Disabil Rehabil ; 40(2): 192-198, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27927033

RESUMO

PURPOSE: To evaluate the effects of lateral electrical surface stimulation (LESS) on scoliosis and trunk balance in children with severe cerebral palsy (CP). METHODS: Children with severe CP (GMFCS level IV or V) and stationary or progressive scoliosis were enrolled. Children were recommended of two sessions of LESS/day, 1 h/session, for 3 months at home: at 40-80 mA intensity, 200 µs pulse width, 25 Hz frequency, on for 6 s and then off for 6 s on the convex side of the trunk curve. Radiologic (Cobb's, kyphotic, and sacral angles) and functional [gross motor function measurement (GMFM)-88 sitting score, and trunk control measurement scale (TCMS)] measurements were evaluated at 4 periods: (a) 3 months before, (b) just before, (c) 1 month after, and (d) 3 months after LESS. RESULTS: The median Cobb's angle of 11 children (median age, 9 years) was 25°, and it showed significant improvements after both 1 and 3 months of LESS. The LESS intensity correlated with the improvement of GMFM-88 siting score. The parents or main caregivers of the children believed LESS had several positive effects without major adverse effects. CONCLUSIONS: LESS is effective in scoliosis in children with severe CP and it may improve trunk balance. Implications for rehabilitation Scoliosis is a very complicated problem for the children with severe CP. They do not have many options for treatments and scoliosis is usually refractory. Lateral electrical surface stimulation (LESS) is effective in scoliosis in children with severe CP and it may improve trunk balance. LESS may be another option of managing stationary or progressive scoliosis in the children with severe CP who are unable to undergo surgery.


Assuntos
Paralisia Cerebral , Terapia por Estimulação Elétrica/métodos , Escoliose , Cuidadores/psicologia , Paralisia Cerebral/complicações , Paralisia Cerebral/reabilitação , Criança , Pré-Escolar , Comportamento do Consumidor , Feminino , Humanos , Masculino , Projetos Piloto , Equilíbrio Postural , República da Coreia , Escoliose/etiologia , Escoliose/terapia , Índice de Gravidade de Doença , Resultado do Tratamento
7.
Rev Esp Anestesiol Reanim ; 63(2): 69-77, 2016 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26049212

RESUMO

OBJECTIVES: To determine whether the implementation of a blood conservation program, and the adoption and progressive association of different methods, reduces transfusion requirements in pediatric patients undergoing scoliosis surgery of different origins. MATERIAL AND METHOD: Quasi-experimental, nonrandomized, descriptive study, approved by the Ethics Committee for Research of our institution. 50 pediatric patients (ASA I-III) aged 5 to 18 years, undergoing scoliosis surgery of any etiology by a single posterior or double approach (anterior and posterior) were included. A historical group with no alternatives to transfusion: Group No ahorro=15 patients (retrospective data collection) was compared with another 3 prospective study groups: Group HNA (acute normovolemic hemodilution)=9 patients; Group HNA+Rec (intraoperative blood salvage)=14 patients, and Group EPO (HNA+Rec+erythropoietin±preoperative donation)=12 patients; according with the implementation schedule of the transfusion alternatives in our institution. RESULTS: The rate of transfusion in different groups (No ahorro, HNA, HNA+Rec, EPO) was 100, 66, 57, and 0% of the patients, respectively, with a mean±SD of 3.40±1.59; 1.33±1.41; 1.43±1.50; 0±0 RBC units transfused per patient, respectively. Statistically significant differences (P<.001) were found in both the transfusion rate and number of RBC units. CONCLUSIONS: The application of a multimodal blood transfusion alternatives program, individualized for each pediatric patient undergoing scoliosis surgery can avoid transfusion in all cases.


Assuntos
Transfusão de Sangue , Adolescente , Perda Sanguínea Cirúrgica , Transfusão de Sangue Autóloga/efeitos adversos , Criança , Pré-Escolar , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Escoliose/etiologia , Reação Transfusional
8.
Brain Dev ; 37(1): 168-70, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24726568

RESUMO

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessively inherited inborn error of folate metabolism. We report a new patient with severe MTHFR deficiency who presented at age 4 months with early onset severe scoliosis associated with severe hypotonia. Markedly decreased MTHFR enzyme activity (0.3 nmoles CHO/mg protein/h; reference range>9) and compound heterozygous mutations (c. 1304T>C; p.Phe435Ser and c.1539dup; p.Glu514Argfs∗24) in the MTHFR gene confirmed the diagnosis. She was treated with vitamin B12, folic acid and betaine supplementation and showed improvements in her developmental milestones and hypotonia. To the best of our knowledge, this is the first patient with MTHFR deficiency reported with severe early onset scoliosis. Despite the late diagnosis and treatment initiation, she showed favorable short-term neurodevelopmental outcome. This case suggests that homocysteine measurement should be included in the investigations of patients with developmental delay, hypotonia and scoliosis within first year of life prior to organizing genetic investigations.


Assuntos
Homocistinúria/complicações , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/complicações , Escoliose/etiologia , Pré-Escolar , Feminino , Humanos , Transtornos Psicóticos/complicações
9.
Artigo em Espanhol | CUMED | ID: cum-65413

RESUMO

La escoliosis idiopática consiste en una deformidad tridimensional de la columna vertebral, existe una curvatura lateral del raquis o varias, junto a una rotación vertebral y una modificación del plano sagital. Se realizó un abordaje sobre la escoliosis; su definición, etiología y su abordaje terapéutico, en específico la cinesioterapia. El objetivo fue fundamentar los diferentes métodos que están vigentes, breve reseña de sus autores, principios que los rigen, su basamento teórico y técnicas de aplicación(AU)


Idiopathic scoliosis is a three-dimensional deformation of the spine, there is a lateral curvature of the spine or more, with a vertebral rotation and a change in the sagittal plane. An approach was made about scoliosis, its definition, etiology and therapeutic approach, specificifically kinesiotherapy. The objective of the study was to corroborate the different methods that are effective, brief review of the authors, the principles that are considered, its theoretical basis and application techniques(AU)


Assuntos
Humanos , Escoliose/etiologia , Escoliose/terapia , Modalidades de Fisioterapia , Técnicas de Exercício e de Movimento , Cinesiologia Aplicada
10.
Int Orthop ; 34(5): 695-702, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20155495

RESUMO

In a previous study, the authors reported the clinical and radiological results of Duchenne muscular dystrophy (DMD) scoliosis surgery in 14 patients with a low FVC of <30%. The purpose of this study was to determine if surgery improved function and QOL in these patients. Furthermore, the authors assessed the patients' and parents' satisfaction. %FVC increased in all patients after preoperative inspiratory muscle training. Scoliosis surgery in this group of patients presented no increased risk of major complications. All-screw constructions and fusion offered the ability to correct spinal deformity in the coronal and pelvic obliquity initially, intermediate and long-term. All patients were encouraged to continue inspiratory muscle training after surgery. The mean rate of %FVC decline after surgery was 3.6% per year. Most patients and parents believed scoliosis surgery improved their function, sitting balance and quality of life even though patients were at high risk for major complications. Their satisfaction was also high.


Assuntos
Pneumopatias/cirurgia , Distrofia Muscular de Duchenne/cirurgia , Satisfação do Paciente , Escoliose/cirurgia , Fusão Vertebral/métodos , Adolescente , Exercícios Respiratórios , Criança , Humanos , Pneumopatias/etiologia , Pneumopatias/fisiopatologia , Masculino , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/fisiopatologia , Complicações Pós-Operatórias , Qualidade de Vida , Radiografia , Recuperação de Função Fisiológica , Escoliose/etiologia , Escoliose/fisiopatologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia , Resultado do Tratamento , Capacidade Vital
11.
Neumol. pediátr ; 5(2): 74-89, 2010. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-588440

RESUMO

El compromiso del sistema respiratorio repercute directamente en la morbimortalidad de niños y adolescentes con enfermedades neuromusculares (ENM). Un enfoque integral que incluya la aproximación a un diagnostico neurológico específico, evaluación funcional respiratoria, de los trastornos respiratorios de sueño, comorbilidades y afecciones secundarias, permiten orientar a el tipo, grado y pronóstico respiratorio; además de otorgar herramientas objetivas para modificar la historia natural de la enfermedad. Utilizar criterios estrictos de selección, una mirada interdisciplinaria y actividades complementarias de rehabilitación; que incorporen en forma programática la ventilación no invasiva domiciliaria, protocolos de tos asistida y métodos para aumentar la capacidad máxima de insuflación, cambia la evolución, disminuye la morbimortalidad y evita la traqueostomía, en una alta proporción de niños y adolescentes portadores de ENM.


Assuntos
Humanos , Criança , Adolescente , Cuidado da Criança/métodos , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/terapia , Algoritmos , Testes Respiratórios , Exercícios Respiratórios , Doenças Neuromusculares/fisiopatologia , Escoliose/etiologia , Apoio Nutricional , Oxigenoterapia , Polissonografia , Respiração Artificial , Síndromes da Apneia do Sono/etiologia
12.
Stud Health Technol Inform ; 140: 197-207, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18810025

RESUMO

The autonomic nervous system through its hypothalamic neuroendocrine control of puberty, skeletal growth and menarche contributes importantly to the pathogenesis of adolescent idiopathic scoliosis (AIS). Melatonin dysfunction detected in AIS subjects also involves the autonomic nervous system. The thoracospinal concept for the pathogenesis of right thoracic AIS in girls thought by some to result from dysfunction of the sympathetic nervous system (SNS), is supported by recent vascular and peripheral nerve studies. Lower body mass index (BMI).in girls with AIS is associated with decreased circulating leptin levels. Leptin, secreted by adipocytes, is a master hormone with many regulatory functions for growth and reproduction, including: 1) appetite repression, anorexigenic; 2) initiation of puberty in girls in a permissive action, and 3) in mice, longitudinal bone growth, chondrogenic and angiogenic, and in bone formation, antiosteogenic acting centrally through the SNS and possibly directly. In AIS girls, autonomic nervous system activity was reported to be higher than in controls. We suggest that in AIS susceptible girls, given adequate nutrition and energy stores, circulating leptin talks to the hypothalamus where dysfunction leads to an altered sensitivity to leptin resulting in increased SNS activity contributing with neuroendocrine mechanisms to: 1) earlier age at, and increased peak height velocity, 2) general skeletal overgrowth, 3) earlier skeletal maturation, 4) extra-spinal skeletal length asymmetries, including periapical ribs and ilia, 5) generalized osteopenia, and 6) lower BMI. The SNS-driven effects may also add adventitious changes to the spine including asymmetries complicating the neuroendocrine effects on adolescent spinal growth. In AIS pathogenesis, the leptin-SNS concept is complementary to our NOTOM escalator concept involving the somatic nervous system. Together these two concepts view AIS in girls as being initiated by a hypothalamic dysfunction of energy metabolism (bioenergetics) affecting skeletal growth in the trunk. Where, in susceptible girls, the postural mechanisms of the somatic nervous system fail to control the asymmetric spinal and/or rib growth changes in a rapidly enlarging adolescent spine; this failure becomes evident as mild back-shape shape asymmetry, or scoliosis. The environmentally-enhanced stature of normal subjects in the last 300 years, in girls susceptible to AIS, may have exaggerated any developmental dysharmony between the autonomic and somatic nervous systems being fought out in the spine and trunk of the girl - possibly making mild back-shape asymmetry, or scoliosis more prevalent today than hitherto.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Leptina , Escoliose/etiologia , Sistema Nervoso Simpático/fisiopatologia , Adolescente , Índice de Massa Corporal , Feminino , Humanos , Melatonina , Postura , Fatores de Risco , Escoliose/fisiopatologia , Coluna Vertebral/fisiopatologia , Vértebras Torácicas
13.
Mov Disord ; 23(14): 2026-32, 2008 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-18759347

RESUMO

Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy and scoliosis and disease progression including loss of ambulation and interference with activities of daily living relative to the length of the GAA repeat, age of onset, and age of diagnosis in a retrospective cohort study of 61 genetically confirmed patients. The use of antioxidants such as vitamins, dietary supplements, and idebenone was also examined. Linear regression and Cox proportional hazard models assessed predictors to disease milestones. The shorter GAA allele accounted for part of the variability in the age of diagnosis (46%) and less in the age of onset (27%). Multivariate analysis demonstrated that age at diagnosis, which may incorporate other genetic and environmental factors, is more important than GAA length in predicting cardiomyopathy, scoliosis, and disease progression.


Assuntos
Progressão da Doença , Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/genética , Adolescente , Adulto , Idoso , Cardiomiopatias/etiologia , Criança , Pré-Escolar , Intervalos de Confiança , Suplementos Nutricionais , Feminino , Ataxia de Friedreich/complicações , Ataxia de Friedreich/terapia , Humanos , Entrevista Psicológica , Masculino , Glicoproteínas de Membrana/genética , Pessoa de Meia-Idade , Análise Multivariada , Valor Preditivo dos Testes , Fatores de Risco , Escoliose/etiologia , Vitaminas/administração & dosagem , Adulto Jovem
14.
Minerva Anestesiol ; 73(5): 323-6, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17529923

RESUMO

A patient with thalassemia minor and idiopathic scoliosis was scheduled for posterior vertebral arthrodesis. The diagnosis of thalassemia minor was made during the preoperative assessment. Preoperative blood cell count displayed the following data: red blood count 5.4 x 106/microL, haemoglobin 11.6 g/dL and hematocrit 36.9%. As corrective surgery for scoliosis is associated with major blood loss, the patient was scheduled for preoperative treatment with human recombinant erythropoietin (rHuEPO), autologous blood donation, intraoperative blood cell salvage and administration of tranexamic acid. The use of rHuEPO was intended to increase hemoglobin (12.1 g/dL) levels at the moment of surgery following the donation of 2 autologous blood units. 1000 mL of salvaged blood were processed. The output line of the blood cell salvage machine did not show any sign of increased red cell haemolysis. The postoperative course was uneventful and the patient was discharged from the postoperative intensive care unit on day 7 after surgery with no allogenic blood transfusion. No references detailing the use of rHuEPO and autologous blood donation preoperatively in patients with thalassemia minor and only one case report discussed the utility of intraoperative blood cell salvage in a patient with thalassemia intermedia. Although further experience is needed, this case report suggests that even for patients with thalassemia minor, methods focused on allogenic blood salvage can be used safely.


Assuntos
Transfusão de Sangue Autóloga , Eritropoetina/uso terapêutico , Escoliose/etiologia , Talassemia beta/complicações , Adolescente , Preservação de Sangue , Contagem de Eritrócitos , Feminino , Hematócrito , Hemoglobinas/metabolismo , Humanos , Cuidados Intraoperatórios , Proteínas Recombinantes
18.
Ann Endocrinol (Paris) ; 62(6): 529-33, 2001 Dec.
Artigo em Francês | MEDLINE | ID: mdl-11845029

RESUMO

We report the case of a 27-year old woman who presented hypocalcemia and hyperphosphoremia during her first pregnancy. Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, obesity, round face, brachymetacarpy and mental retardation. However, the diagnosis of pseudohypopara thyroidism type Ia was ruled out due to low PTH level (10 pg/ml). The patient's 22q11 microdeletion was suspected and identified because of the association of severe neonatal hypocalcemia, abnormal face and renal malformation in her children. Deletion 22q11 leads to various syndromes, including Di George syndrome, also referred to as CATCH 22 syndrome (Cardiac defect (C), Abnormal face (A), Thymic hypoplasia (T), Cleft palate (C) and Hypocalcemia (H)). Retrospectively, the patient presented with symptoms suggestive of CATCH 22: abnormal face, hypernasal voice suggestive of velopharyngeal insufficiency, mental retardation, recurrent otitis in childhood. It is also noteworthy that there was an idiopathic thrombocytopenic purpura. In conclusion, while the phenotype was suggestive of Albright's hereditary osteodystrophy, the constatation of a low PTH level would cast doubt on this diagnosis. Furthermore, the 22q11 microdeletion should be searched by FISH (Fluorescence In Situ Hybridization) in all patients with hypopara thyroidism of unknown origin, even in the absence of cardiac malformations. Finally, it seems that patients with CATCH 22 would be predisposed to auto-immune disease as a result of thymic dysfunction.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22/ultraestrutura , Hipercalcemia/etiologia , Hipoparatireoidismo/diagnóstico , Fósforo/sangue , Complicações na Gravidez/diagnóstico , Pseudo-Hipoparatireoidismo/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Diagnóstico Diferencial , Face/anormalidades , Feminino , Displasia Fibrosa Poliostótica/diagnóstico , Humanos , Hipercalcemia/congênito , Hipoparatireoidismo/genética , Hibridização in Situ Fluorescente , Recém-Nascido , Deficiência Intelectual/etiologia , Obesidade/etiologia , Hormônio Paratireóideo/deficiência , Fenótipo , Gravidez , Complicações na Gravidez/metabolismo , Púrpura Trombocitopênica Idiopática/complicações , Escoliose/etiologia , Síndrome , Insuficiência Velofaríngea/etiologia
19.
Orv Hetil ; 142(52): 2893-7, 2001 Dec 30.
Artigo em Húngaro | MEDLINE | ID: mdl-11828939

RESUMO

Neurofibromatosis-1 is a here-do-familiar disorder that is associated with a variety of skeletal anomalies, mostly with spinal deformities in 10-50% of the patients. Intraoperatively, a poor vertebral bone quality has been observed. Efforts have been made to identify factors preventing curve progression, to optimize operational planning and to explain the pathomechanism. As part of the preoperative evaluation, the authors used a dual X-ray absorptiometry to assess the bone mineral density of the lumbar spine in 12 non operated patients with neurofibromatosis-1, supplemented by laboratory blood/urine investigations. A significant decrease in bone mineral density of lumbar spine was measured. An inverse relation was suggested between the severity of scoliosis and the lumbar spine Z-scores. No pivotal alterations were identified in the laboratory measurements. The bony tissue abnormality observed intraoperatively in neurofibromatosis-1 patients may be described as a diminution of the axial bone mineral density. The evaluation of bone mineral density in the course of the preoperative planning is proposed in neurofibromatosis-1.


Assuntos
Densidade Óssea , Cifose/etiologia , Neurofibromatose 1/complicações , Escoliose/etiologia , Absorciometria de Fóton , Adolescente , Adulto , Criança , Feminino , Humanos , Cifose/diagnóstico por imagem , Cifose/patologia , Vértebras Lombares , Masculino , Neurofibromatose 1/diagnóstico , Fatores de Risco , Escoliose/diagnóstico por imagem , Escoliose/patologia
20.
J Manipulative Physiol Ther ; 22(8): 540-4, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10543585

RESUMO

BACKGROUND: The size asymmetry of cerebral hemispheres may predispose to head tilt and asymmetric blocking of the zygapophysial joints, potentially leading to the development of compensatory curvatures in the lower segments of the spine. OBJECTIVE: To analyze the effects of spinal manipulation, maintained by an exercise program, on the progression of idiopathic adolescent scoliosis in 2 children aged 6 and 10. CLINICAL FEATURE: The scoliosis found was 16 and 60 degrees. INTERVENTION AND OUTCOME: For diagnosis and monitoring of therapy, we recorded qualitative parameters of shoulder asymmetry, axillary line asymmetry, and scapular angle position. Manual treatment consisted of the examinations of all sliding motion in zygapophysial joints and both sacroiliac joints and removing the limitations of the sliding motions according to the method of Karel Lewit. The treatment procedure consisted of 3 or 4 manipulations within 17 months and an exercise program. The manipulation effects were maintained by the exercise program. The exercises were done in 2 or 3 sessions weekly for a year. In both patients we observed that scoliosis decompensation was successfully stopped and the effects of the correction persisted for 10 years. CONCLUSION: Brain and head asymmetry may be only a transient state, predisposing to asymmetric blocking at the atlanto-occipital level. Removal of blocking may prevent curve progression in children who had adolescent idiopathic scoliosis. The manipulative therapy may also have a promising effect on retarding curve progression when used in skeletally immature patient.


Assuntos
Manipulação da Coluna , Escoliose/terapia , Encéfalo/anormalidades , Criança , Terapia por Exercício , Feminino , Cabeça/fisiopatologia , Humanos , Radiografia , Escoliose/diagnóstico por imagem , Escoliose/etiologia , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA