Marcelo Wajchenberg

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article.

BackgroundThe etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains unknown. Autosomal dominant, X-linked and multifactorial patterns of inheritances have been reported. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family.MethodsEvaluation of 57 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped.ResultsLocating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied.ConclusionWhile it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.

Histochemical analysis of paraspinal rotator muscles from patients with adolescent idiopathic scoliosis: a cross-sectional study.

Abstract Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported. We evaluated rotator muscle fibers from the apex vertebra of AIS patients through histological and immunohistochemical analysis. A population of 21 female AIS patients who underwent corrective surgery between 2010 and 2013 had biopsies taken from the paraspinal muscle in the convex and concave sides of the thoracic curve apical vertebra. Serial sections were stained following routine protocols for hematoxylin and eosin (HE), Sudan red, Gomori trichrome, NADH, ATPase, and cytochrome oxidase. We assessed muscular atrophy and hypertrophy, fatty proliferation, endomysial and perimysial fibrosis, the presence of hyaline fibers, mitochondrial proliferation, muscular necrosis, nuclear centralization, and inflammation. Two independent professionals evaluated the slices. The thoracic curves had an average Cobb angle of 68 degree. Comparative analysis of the concave and convex sides was performed with McNemar test at a significance level of 5%. Results showed significant differences in both endomysial and perimysial fibrosis and fatty involution between the two sides of the apex vertebra. Paraspinal muscles in the concave side of the scoliosis apex had significantly more fibrosis and fatty involution. However, both sides showed signs of myopathy, muscular atrophy due to necrosis, presence of hyaline fibers, and mitochondrial proliferation.

Adolescent idiopathic scoliosis: current concepts on neurological and muscular etiologies

Adolescent idiopathic scoliosis (AIS) is a frequent disease but its etiology remains unknown. Gender prevalence in females is already known and there are many suggested hypotheses to explain its origin and manifestation, like associated neurologic, muscular and connective tissue disorders. Literature reports have tried to analyze disease prevalence in selected populations, possible ways of inheritance, related genes location and their polymorphisms, which may play a role in the development of the deformity. The purpose of this paper is to review and update concepts on the origin and genetic influence on AIS.

Espondilólise e espondilolistese em ginastas jovens

OBJECTIVE: To determine the incidence of spondylolysis and spondylolisthesis in young, female gymnasts, and to correlate these with lumbar pain, history of trauma and training load. METHOD: A total of 18 would-be Olympic gymnasts, aged 8-17, with an average age of 11.3, were voluntarily evaluated. The Gymnasts were asked to complete a questionnaire about their sports activities, and were submitted to a clinical examination and lumbar spine radiography. RESULTS: The radiographies were analyzed by experienced specialists in surgery of the vertebral column, who found a 5.56% incidence of spondylolysis and no cases of spondylolisthesis. CONCLUSION: The incidence of radiographic alterations identified remained close to those reported in the literature for non-athletic individuals, and the lumbalgia indicated by the athletes showed no direct relation with spondylolysis and spondylolisthesis.

Correlations between radiographic, magnetic resonance and histological examinations on the degeneration of human lumbar intervertebral discs

CONTEXT AND OBJECTIVE There is controversy regarding which imaging method is best for identifying early degenerative alterations in intervertebral discs. No correlations between such methods and histological finds are presented in the literature. The aim of this study was to correlate the thickness of intervertebral discs measured on simple radiographs with the degree of degeneration seen on magnetic resonance images and the histological findings relating to nerve ends inside the discs. DESIGN AND SETTING Cross-sectional correlation study on the lumbar spines of human cadavers, at Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil. METHODS Ten lumbar spinal columns were extracted from human cadavers and subjected to magnetic resonance imaging and simple radiography. They were classified according to the degree of disc degeneration seen on magnetic resonance, and the thickness of the discs was measured on radiographs. The intervertebral discs were then extracted, embedded in paraffin and analyzed immunohistochemically with protein S100, and the nerve fibers were counted and classified. RESULTS No correlation was observed between the thickness of the intervertebral discs and the degree of degeneration seen on magnetic resonance images. Only the uppermost lumbar discs (L1/L2 and L2/L3) presented a correlation between their thickness and type I and IV nerve endings. CONCLUSION Reduced disc thickness is unrelated to increased presence of nerve ends in intervertebral discs, or to the degree of disc degeneration.

Impact of surgeons’ experience on accuracy of radiographic segmental kyphosis assessment in thoracolumbar fractures: a prospective observational study

BackgroundThe thoracolumbar region is where most fractures of the spine are located. Segmental kyphosis is an important factor for treatment decisions. There are various methods for measuring segmental kyphosis in thoracolumbar fractures. Our objective was to evaluate if the experience of the surgeon has any influence on kyphosis measurement by analyzing three different categories of orthopedic surgeons and evaluate possible clinical impacts.Material and methodsSix physicians separated into three categories according to the level of experience evaluated 30 lateral view radiographs of the thoracic spine of patients with single-level fracture taken during their outpatient follow-up visits. Images had segmental kyphosis measured by five distinct methods. The x-rays were evaluated twice and in a random order after an eight-week interval. The reproducibility of the measurements was analyzed by the intraclass correlation coefficient (ICC) and its respective 95% confidence interval.ResultsThe intraclass correlation coefficient (ICC) was calculated to evaluate the inter- and intra-examiner reliability for each method. The methods that disregard the fractured vertebra (1 and 4) achieved the highest intra and inter-observers reliability among the participants. The measurements from methods 3 and 5 were poorly reproducible between examiners. The difference between the averages of the measurements of the five methods studied was greater than 5 degrees in methods 1 and 2, suggesting risk for patient safety.ConclusionMethods that exclude the fractured vertebra were more reproducible for the evaluation of segmental kyphosis in thoracolumbar fractures. The evaluation of the spine fracture must be coupled with other radiographic criteria, more complex image exams and the patient’s clinical state to assist the surgeon in deciding between conservative or surgical treatment. The authors suggest that the measurements should be performed by methods that exclude the fractured vertebra and conducted by experienced doctors.

Fraturas com arrancamento do anel apofisário ("limbus") póstero-superior da vértebra L5, associado com hérnia discal pré-marginal em atletas

O aumento de adolescentes praticando esportes de forma cada vez mais competitiva tem causado o aumento de lesoes relacionadas a pratica desportiva. A dor lombar e uma queixa frequente entre os atletas, geralmente relacionada a contraturas da musculatura paravertebral e fraturas ( espondilolise ) devido ao excesso de treinamento e aplicacao de tecnicas incorretas. Porem, outras etiologias podem causar a dor lombar, como processos infecciosos, tumorais e fraturas. As fraturas com arrancamento do anel apofisario sao lesoes incomuns e raramente ocorrem na regiao postero-superior da vertebra L5. Os relatos da literatura mostram que o local mais acometido e a regiao postero-inferior da vertebra L4. Apresentamos dois casos de atletas jovens com esta incomum lesao. O objetivo deste trabalho e discutir a possivel etiologia, os melhores metodos para o diagnostico e possiveis formas de tratamento desta patologia.

Association between vitamin D serum levels and adolescent idiopathic scoliosis

Background Idiopathic scoliosis (IS) is a deformity of the spine that occurs in up to 4% of children during childhood and adolescence. Idiopathic scoliosis is considered multifactorial, and family history may present several individuals affected. We still cannot determine which curves will worsen and at what rate, but some factors, such as age, growth potential and skeletal maturity have been associated with a higher risk of progression. Studies have suggested that a decrease in bone mineral density may be responsible for the appearance and progression of the disease, and some have tried to link vitamin D receptor gene (VDRG) polymorphism to adolescent idiopathic scoliosis (AIS).

Association between vitamin d levels and adolescent idiopathic scoliosis

Objetivo: O objetivo deste estudo e comparar os niveis de 25-hidroxivitamina D em pacientes com EIA e com um grupo controle. Metodos: Os pacientes foram recrutados no ambulatorio de nossa instituicao durante 2013. Criancas menores de 10 ou maiores de 18 anos, portadores de disturbios ​​neurologicos ou musculares, deformidades congenitas ou sindromes geneticas foram excluidos. A dosagem de calcio, fosforo, creatinina, ureia e hormonio da paratireoide humano foi realizada para descartar disfuncoes renais ou das paratireoide. Os niveis de 25-OHD foram determinados por teste de eletroquimioluminescencia totalmente automatizado apos oito horas de jejum, durante a primavera brasileira. O nivel adequado de 25OHD foi definido como acima de 30 ng/mL. Os resultados foram comparados a um grupo de individuos saudaveis. Resultados: No grupo 1 (controle), 63,3 % apresentaram niveis anormais de vitamina D , enquanto que 91% dos pacientes portadores de EIA apresentou baixo nivel de vitamina D. A media do IMC foi de 19,6 kg/m2 para os controles e 20,3 kg/m2 no grupo 2. A analise estatistica demonstrou diferenca relevante (p < 0,0001) entre os niveis de vitamina D. A media e os valores minimos de vitamina D foram respectivamente 27 e 13,6 ng / mL para o grupo 1 e 18,8 e 3,13 ng / ml para o grupo da EIA. Conclusoes: Pacientes portadores de EIA mostraram niveis de 25OHD mais baixos do que pacientes saudaveis, com significância estatistica. O presente estudo sugere que a deficiencia da vitamina D possa estar relacionada com a etiologia da escoliose idiopatica do adolescente, corroborando dados da literatura. Mais pesquisas devem ser desenvolvidas para investigar o impacto real dos niveis sericos de vitamina D sobre a fisiopatologia da EIA.Objetivo: Comparar os níveis de 25-hidroxivitamina D em pacientes com EIA e um grupo controle. Métodos: Os pacientes foram recrutados no ambulatório de nossa instituição durante 2013. Crianças com escoliose diagnosticada antes de 10 ou após 18 anos de idade, portadoras de distúrbios neurológicos ou musculares, deformidades congênitas ou síndromes genéticas foram excluídas. Os níveis de 25-OHD foram determinados por teste de eletroquimioluminescência totalmente automatizado. O nível adequado de 25-OHD foi definido como acima de 30 ng/ml. Os resultados foram comparados a um grupo de indivíduos saudáveis. Resultados: No grupo 1 (controle), 63,3 % apresentaram níveis anormais de vitamina D, enquanto 91% dos pacientes portadores de EIA apresentaram baixo nível de vitamina D. A média do IMC foi de 19,6 kg/m2 para os controles e 20,3 kg/m2 no grupo 2. A análise estatística demonstrou diferença relevante (p l 0,0001) entre os níveis de vitamina D. A média e os valores mínimos de vitamina D foram respectivamente 27 e 13,6 ng/ml para o grupo 1 e 18,8 e 3,13 ng/ml para o grupo EIA. Conclusões: Pacientes portadores de EIA tinham níveis de 25-OHD mais baixos do que os pacientes saudáveis, com significância estatística. O presente estudo sugere que a deficiência da vitamina D possa estar relacionada com a etiologia da escoliose idiopática do adolescente, corroborando dados da literatura. Mais pesquisas devem ser desenvolvidas para investigar o impacto real dos níveis séricos de vitamina D sobre a fisiopatologia da EIA.

Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis

OBJECTIVE : The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic scoliosis (AIS). METHODS : Evaluated 25 subjects from a family with multiple members with AIS, by collecting 10mL of blood for DNA isolation. The genotyping of the I/D polymorphism of the ACE gene and the R577X of the ACTN3 gene was performed using two specific primers to classify individuals as homozygous or heterozygous. RESULTS : Regarding the ACE polymorphism it was found that 19 (76%) subjects were DD and 6 (24%) ID. The prevalence of the D allele was 88% and the I allele was 12%. Regarding the ACTN3 polymorphism there were 6 subjects RR (24%), 11 RX (44%) and 8 XX (32%). The prevalence of the R allele was 23 (46%) and the X allele was 27 (54%). CONCLUSION : There was a difference between the distribution of the polymorphism of ACE and ACTN3 in the family studied. When assessing the ACE polymorphism a higher prevalence of the D allele was observed as compared with the I allele. Level of Evidence III, Cross-sectional, Clinical Trial.