Análisis estadístico de los factores de riesgo asociados a las patologías de la columna lumbar para la población empleada / Statistical analysis of risk factors associated with lumbar spine pathologies for the employed population

Objetivo: Determinar los factores de riesgo de patologías lumbares en pacientes empleados y afiliados al sistema de salud, a partir de la exploración física, hábitos, antecedentes personales y factores de riesgo laborales. Material y Métodos: El diseño del estudio es retrospectivo, transversal. En una muestra de 668 adultos trabajadores del Ecuador, se aplicó y evaluó el modelo predictivo de respuesta binaria logit para identificar factores de riesgo y se usaron métodos de aprendizaje supervisado (árboles de clasificación) para clasificar a los pacientes según el grado de patología lumbar. Resultados: El modelo predictivo logístico presentó una sensibilidad del 62,5%, una especificidad del 63,7%, el área bajo la curva ROC fue 0,63 y se determinó una precisión del 63,4%.Conclusión: Los factores que aumentan el riesgo de la patología de columna lumbar más frecuente (lumbalgia) y en orden de importancia en los pacientes son: menor edad, sexo femenino, tienden a exponerse a factores de riesgo psicosocial en su trabajo

Objective: Determine the risk factors of lumbar pathologies in patients employed and affi-liated with the health system, based on physical examination, habits, personal history, and occupational risk factors.Materials and Methods: The study design is retrospective, cross-sectional. In a sample of 668 adult workers from Ecuador. The binary logit response predictive model was applied to identify risk factors and supervised learning methodology (classification trees) was used to classify patients according to the degree of lumbar pathology.Results: The logistic predictive model has a sensitivity of 62.5%, a specificity of 63.7%, the area under the ROC curve was 0.63, and precision of 63.4% was determined.Conclusion: The factors that increase the risk of the most frequent lumbar pathology (low back pain) in order of importance in patients are: younger age, female sex, tend to be expo-sed to psychosocial risk factors at work, and lower risk of having mechanical factors.

Comparative study of the types of fixation in adolescent idiopathic scoliosis / Estudo comparativo dos tipos de fixação na escoliose idiopática do adolescente / Estudio comparativo de los tipos de fijación en la escoliosis idiopática del adolescente

ABSTRACT Objective: To conduct a comparative study of the results obtained in the treatment of adolescent idiopathic scoliosis (AIS) with different types of fixations (traditional, selective and multiple), and to evaluate the correction of angular deformity in the frontal plane by the Cobb and sacral clavicular angle (SCA) methods. Methods: A study of a group of 278 patients with AIS who underwent selective, traditional, and multiple fixation surgeries. Results: Significant corrections of both the Cobb angle and the SCA were observed. Conclusions: In the multiple fixation surgeries there was a 100% correction between the preoperative and postoperative SCA values and a 50% correction in the traditional and selective fixations, a difference considered significant. Regarding the Cobb angle, the three fixations presented corrections between preop and postop with significant differences. Level of evidence III; Retrospective Study.

RESUMO Objetivo: Realizar um estudo comparativo dos resultados obtidos no tratamento da escoliose idiopática do adolescente (EIA) com diferentes tipos de fixação tradicional, seletiva e múltipla e avaliar a correção da deformidade angular no plano frontal pelo método de Cobb e do â ngulo sacro clavicular (ASC). Métodos: Estudo de um grupo de 278 pacientes com EIA operados com fixações seletiva, tradicional e múltipla. Resultados: Observou-se correção significativa tanto do ângulo de Cobb quanto do ASC. Conclusões: Nas cirurgias com fixação múltipla constatou-se, entre pré-operatório (pré-op) e pós-operatório (pós-op), uma correção de 100% do ASC, e com as fixações tradicional e seletiva a correção foi de 50%, diferença que se considerou significativa. Com relação ao ângulo de Cobb as três fixações resultaram em correções entre o pré-op e o pós-op com diferença considerada significativa. Nível de evidência III; Estudo retrospectivo.

RESUMEN Objetivo: Realizar un estudio comparativo de los resultados obtenidos en el tratamiento de la escoliosis idiopática del adolescente (EIA) con diferentes tipos de fijación: tradicional, selectiva y múltiple, y evaluar la corrección de la deformidad angular en el plano frontal mediante el método de Cobb y del ángulo sacro clavicular (ASC). Métodos: Estudio de un grupo de 278 pacientes con EIA operados con fijaciones selectiva, tradicional y múltiple. Resultados: Se observó corrección significativa tanto del ángulo de Cobb como del ASC. Conclusiones: En las cirugías con fijación múltiple se constató, entre preoperatorio (pre-op) y postoperatorio (post-op), una corrección de 100% del ASC, y con las fijaciones tradicional y selectiva la corrección fue de 50%, diferencia que se consideró significativa. Con relación al ángulo de Cobb las tres fijaciones resultaron en correcciones entre pre-op y post-op con diferencia considerada significativa. Nivel de evidencia III; Estudio Retrospectivo.

Síndrome de forestier: caso clínico y revisión de la literatura / Forestier syndrome: clinical case and literature review

Antecedentes: El síndrome de Forestier también conocido como Hiperostosis Esquelética Idiopática Difusa (DISH, por sus siglas en inglés), es una enfermedad de etiología desco-nocida que se caracteriza por osificación del ligamento espinal anterior, siendo las porciones cervicales y torácicas las que se afectan más frecuentemente. Esta enfermedad es más frecuente en hombres y se asocia con diabetes, hipertensión arterial, disli-pidemia y trastornos endocrinos. Descripción del caso clínico:Paciente femenina de 63 años con antecedente de dolor cervical desde hace 32 años, que 6 años después del inicio del cuadro, presentó limitación en la movilidad del cuello; presentando va-rios episodios de disfonía desde hace 10 años; al momento de la consulta la paciente presentó limitación de la movilidad del cue-llo y dolor cervical. La imagen de resonancia magnética reportó: presencia de crecimiento óseo anterior de los cuerpos vertebra-les, este hallazgo está en relación con el síndrome de Forestier. Conclusiones: Por ser una enfermedad poco conocida es sub-diagnosticada y a menudo confundida con otras patologías. Los pacientes son diagnosticados muchos años después de que apa-recieron los primeros síntomas que incluyen dolor, limitación de la movilidad, disfagia y dificultad respiratoria. El tratamiento incluye manejo sintomático, terapia física y manejo quirúrgico...(AU)

Clinical and molecular genetic analysis of a patient with 3-M syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.@*METHODS@#After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.@*RESULTS@#A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously.@*CONCLUSION@#Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.

Diagnóstico prenatal ultrasonográfico de hemivértebra / Prenatal Ultrasonographic Diagnosis of Hemivertebrae

Introducción: La hemivértebra es un raro defecto congénito de la columna vertebral fetal en la que solo se desarrolla el cuerpo vertebral de un lado, lo cual provoca su deformidad. Objetivo: Presentar un caso con diagnóstico ecográfico tridimensional prenatal de hemivértebra, como único defecto. Método: Se realizó evaluación ecográfica prenatal y examen anátomo patológico y radiológico posmortem al feto con escoliosis congénita provocado por hemivértebra. Se revisó la literatura sobre este defecto congénito, su diagnóstico prenatal y otros aspectos genéticos que deben tenerse en cuenta para el asesoramiento a la familia. Presentación de caso: Gestante de 28 años remitida a la consulta provincial de Genética Médica en la ciudad de Camagüey, Cuba, el 25 de septiembre del 2018, por sospecha ultrasonográfica de hemivértebra fetal con 20 semanas de gestación. Se confirma diagnóstico a esta instancia, mediante ultrasonografía tridimensional. Con el consentimiento familiar informado se realiza interrupción de la gestación y se comprueba el diagnóstico prenatal realizado por estudios radiológicos y anátomo patológico de la región dorso lumbar. Conclusiones: Se concluye como un defecto congénito múltiple, aislado, de posible etiología multifactorial. Se destacó el valor de la ecografía tridimensional, vista sagital coronal, como método no invasivo más empleado para el diagnóstico prenatal(AU)

Introduction: The hemivertebrae is a rare congenital defect of the fetal spine in which only the vertebral body develops on one side, resulting in deformity. Objective: To present a case with three-dimensional prenatal ultrasound diagnosis of hemivertebrae, as the only defect. Method: Prenatal ultrasound evaluation, postmortem anatomopathological and radiological examination were performed in a fetus with congenital scoliosis caused by hemivertebrae. The literature on this congenital defect, the prenatal diagnosis and other genetic aspects that should be taken into account for family counseling was reviewed. Case report: A 28-year-old pregnant woman referred to the provincial office of Medical Genetics in Camagüey, Cuba, on September 25, 2018, due to ultrasonographic suspicion of fetal hemivertebrae. She was 20 weeks of gestation. Diagnosis is confirmed by three-dimensional ultrasonography. After the informed family consent, the pregnancy was interrupted. The prenatal diagnosis was verified by radiological and pathological studies of the lumbar back region. Conclusions: It is concluded as a multiple congenital defect, isolated, of possible multifactorial etiology. The value of three-dimensional ultrasound, coronal sagittal view, was highlighted as the most commonly used, non-invasive method for prenatal diagnosis(AU)

Síndrome lumbocostovertebral: primer reporte de caso en Argentina / Lumbocostovertebral syndrome: first case report in Argentina

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.

Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery / Analgesia neuraxial em uma parturiente com síndrome de Vacterl em trabalho de parto normal

Abstract Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Case report: A 23 year old primigravida at 39 weeks gestation presented in labor at 4 cm cervical dilatation, completely effaced, requesting labor analgesia. Past medical history included VACTERL association with an imperforate anus and a partial endocardial cushion defect, both repaired in early childhood. She also had significant dorso-lumbar scoliosis with an extra lumbar vertebra. An MRI performed at 14 years age revealed the above findings with no spinal cord abnormalities. With a normal neurologic exam, a combined spinal epidural technique was performed. Despite significant scoliosis, the epidural space was identified at approximately the L3-L4 interspace at a depth of 5 cm. Spinal Fentanyl 25 mcg was administered followed by continuous patient-controlled epidural analgesia. The patient experienced excellent pain relief throughout her labor, and had an uneventful vaginal delivery 5 h after epidural placement. Discussion: The rarity of VACTERL association in the obstetric population with its extensive anomalies mandates a multidisciplinary approach in the prenatal period as it can pose major challenges to all health care providers, including airway, ventilatory, cardiac and neuraxial problems. This is the first reported case of a successful and safe neuraxial technique in a laboring patient with the VACTERL association with albeit limited vertebral and spinal cord anomalies.

Resumo Introdução: O termo Vacterl é um acrônimo para uma associação de malformacões congênitas que inclui anomalias vertebral, anal, cardíaca, traqueal, esofágica, renal e dos membros (Limbs em inglês). As anomalias Vacterl representam um enorme desafio para os anestesiologistas. Descrevemos o manejo anestésico de uma parturiente com síndrome de Vacterl submetida à analgesia neuraxial para parto normal. Relato de caso: Paciente primípara, 23 anos, 39 semanas de gestação, apresentava em trabalho de parto 4 cm de dilatação cervical, apagamento completo, exigiu analgesia de parto. A história médica incluía síndrome de Vacterl com ânus imperfurado e defeito parcial do coxim endocárdico, ambos corrigidos na primeira infância. A paciente também apresentava escoliose dorso-lombar acentuada com uma vértebra lombar adicional. Uma RM feita aos 14 anos revelou os achados mencionados acima sem anormalidades na medula espinhal. Com um exame neurológico normal, a técnica anestésica combinada raquiperidural (CRP) foi usada. Apesar de escoliose significativa, o espaço peridural foi identificado próximo ao interespaço L3-L4 a uma profundidade de 5 cm. Fentanyl (25 mcg) foi administrado por via espinhal, seguido de analgesia peridural contínua controlada pela paciente. A paciente sentiu grande alívio da dor durante todo o trabalho de parto; o parto vaginal ocorreu 5 horas após a anestesia CRP sem intercorrências. Discussão: A raridade da síndrome de Vacterl na população obstétrica com suas extensas anomalias exige uma abordagem multidisciplinar no pré-natal porque pode representar grandes desafios para todos os prestadores de cuidados de saúde, inclusive problemas respiratórios, de ventilação, cardíacos e do neuroeixo. Este é o primeiro caso relatado de uma técnica neuraxial bem-sucedida e segura em uma paciente em trabalho de parto com síndrome de Vacterl, embora com anomalias limitadas da coluna vertebral e medula espinhal.

Community Care Administration of Spinal Deformities in the Brazilian Public Health System

OBJECTIVE: Underfunding of the surgical treatment of complex spinal deformities has been an important reason for the steadily growing waiting lists in publicly funded healthcare systems. The aim of this study is to characterize the management of the treatment of spinal deformities in the public healthcare system. METHODS: A cross-sectional study of 60 patients with complex pediatric spinal deformities waiting for treatment in December 2013 was performed. The evaluated parameters were place of origin, waiting time until first assessment at a specialized spine care center, waiting time for the surgical treatment, and need for implants not reimbursed by the healthcare system. RESULTS: Ninety-one percent of the patients lived in São Paulo State (33% from Ribeirão Preto - DRS XIII). Patients waited for 0.5 to 48.0 months for referral, and the waiting times for surgery ranged from 2 to 117 months. Forty-five percent of the patients required implants for the surgical procedure that were not available. CONCLUSION: The current management of patients with spinal deformities in the public healthcare system does not provide adequate treatment for these patients in our region. They experience long waiting periods for referral and prolonged waiting times to receive surgical treatment; additionally, many of the necessary procedures are not reimbursed by the public healthcare system.

A Comparative Study of Sagittal Balance in Patients with Neuromuscular Scoliosis

OBJECTIVES: Spinopelvic alignment has been associated with improved quality of life in patients with vertebral deformities, and it helps to compensate for imbalances in gait. Although surgical treatment of scoliosis in patients with neuromuscular spinal deformities promotes correction of coronal scoliotic deformities, it remains poorly established whether this results in large changes in sagittal balance parameters in this specific population. The objective of this study is to compare these parameters before and after the current procedure under the hypothesis is that there is no significant modification. METHODS: Sampling included all records of patients with neuromuscular scoliosis with adequate radiographic records treated at Institute of Orthopedics and Traumatology of Clinics Hospital of University of São Paulo (IOT-HCFMUSP) from January 2009 to December 2013. Parameters analyzed were incidence, sacral inclination, pelvic tilt, lumbar lordosis, thoracic kyphosis, spinosacral angle, spinal inclination and spinopelvic inclination obtained using the iSite-Philips digital display system with Surgimap and a validated method for digital measurements of scoliosis radiographs. Comparison between the pre- and post-operative conditions involved means and standard deviations and the t-test. RESULTS: Based on 101 medical records only, 16 patients met the inclusion criteria for this study, including 7 males and 9 females, with an age range of 9-20 and a mean age of 12.9±3.06; 14 were diagnosed with cerebral palsy. No significant differences were found between pre and postoperative parameters. CONCLUSIONS: Despite correction of coronal scoliotic deformity in patients with neuromuscular deformities, there were no changes in spinopelvic alignment parameters in the group studied.

Prevalência e fatores associados a baixos níveis de força lombar em adolescentes / Prevalence and factors associated with low lumbar strength in adolescents

INTRODUCTION: Low back pain is a multifactorial disorder and is one of the most common musculoskeletal discomfort in adolescents and adults. OBJECTIVE: To determine the prevalence and factors associated with low levels of lumbar force in adolescents. METHODS: This is a cross-sectional study involving 909 adolescents aged 14 to 19 years enrolled in public schools in São José, of Santa Catarina State - Southern Brazil. Lumbar force was analyzed by the lumbar extension test developed by a Canadian research group, which proposes different cutoffs according sex. Independent variables were sex, age, socioeconomic status, alcohol consumption, screen time, physical activity, aerobic fitness and mass body index. For data analysis, binary logistic regression was used, with significance level of 5%. RESULTS: The prevalence of low levels of lumbar force was 45.2%, being 36.2% for boys and 53.1% for girls. The population subgroups most likely to present low levels of lumbar force were females (OR: 1,99; CI95%: 1,52 to 2,60) and those adolescents with overweight (OR: 1,48; CI95%: 1,12 to 1,96. CONCLUSION: Almost half of the students had low levels of lumbar force. The girls, the adolescents with overweight and with excessive time in front of the screen most likely present low levels of lumbar force. The innovation of this study is modifiable factors such as the excessive time screen and overweight may be used to promote health interventions to improve levels of lumbar strength of youth.

INTRODUÇÃO: A lombalgia é uma doença multifatorial e é um dos desconfortos musculoesqueléticos mais comuns. OBJETIVO: Assim, o objetivo é analisar os fatores associados e estimar a prevalência de baixos níveis de força lombar em adolescentes. MÉTODO: Trata-se de um estudo transversal, com 909 adolescentes de 14 a 19 anos, estudantes de escolas públicas da cidade de São José, Santa Catarina - Brasil. Analisou-se a força lombar por meio do teste de extensão lombar proposto pela Canadian Physical Activity, Fitness and Lifestyle Approach (CPAFLA) que propõe pontos de corte distintos para os sexos. As variáveis independentes analisadas foram: sexo, idade, nível econômico, tempo de tela, atividade física, aptidão aeróbia e Indíce de Massa corporal. Para a análise dos dados utilizou-se a regressão logística binária com nível de significância de 5% RESULTADOS: A prevalência de baixos níveis de força lombar foi de 45,2%, sendo 36,2% para os meninos e 53,1% para as meninas. Os subgrupos populacionais com maiores chances de baixos níveis de força lombar foram o sexo feminino (OR: 1,99; IC95%: 1,52-2,60) e adolescentes com excesso de peso (OR: 1,48; IC95%: 1,12-1,96. CONCLUSÃO: Quase metade dos estudantes apresentaram baixos níveis de força lombar. As meninas, os adolescentes com excesso de peso e os com tempo excessivo à frente da tela estiveram mais propícios a terem baixos níveis de força lombar. A novidade desse artigo é que fatores modificáveis, como o tempo de tela excessivo e o excesso de peso podem ser preteridos em intervenções de promoção da saúde que visem aprimorar os níveis de força dos jovens.

Alterações posturais de idosos frequentadores de um clube para pessoas idosas / Cambios posturales de ancianos regulares un club para personas mayores / Postural changes of elderly people that frequent a club for elderly people

To analyze postural changes of elderly people that frequent a club for elderly people. Methods: study of 55 elderlies, 67.2 ± 6.6 years old, 65.5% (36) being female. It was used a questionnaire consisting of sociodemographic variables and a postural assessment instrument that contains items that assess postural changes in viewpoints: anterior, lateral and posterior. The data were processed in the program SPSS 19.0. Results: it was observed a high prevalence of elderly people with absence of postural deviations, however some deformities were found, 60% (33) of the elders analyzed in this study had their head forward and 49.1% (27) presented hyperlordosis. Conclusion: the data has showed that although some musculoskeletal changes specific to the aging process were present, most of the elderly were normal, reflecting the effectiveness of activities or previous treatments - intended to minimize postural alterations - with consequent improvements in the quality of life of the elderly person...

Analisar alterações posturais de idosos frequentadores de um clube para pessoas idosas. Métodos: estudo realizado com 55 idosos,67,2±6,6 anos de idade, sendo 65,5%(36) do sexo feminino. Utilizou-se um questionário composto de variáveis sociodemográficas e um instrumento de avaliação postural que contém itens que avaliam alterações posturais nas vistas: anterior, lateral e posterior. Os dados foram processados no programa SPSS 19.0. Resultados: observou-se alta prevalência de idosos com ausência de desvios posturais, no entanto algumas deformidades foram encontradas, sendo que 60% (33) dos idosos abordados nesse estudo mostraram a cabeça projetada para frente e 49,1% (27) revelaram hiperlordose. Conclusão: os dados demonstram que embora tenham surgido algumas alterações osteomusculares próprias do processo de envelhecimento, a maioria dos idosos apresentaram-se normais, refletindo a eficácia das atividades ou tratamentos prévios destinados a minimização de alterações posturais com consequente melhoria na qualidade de vida da pessoa idosa...

El análisis postural en los cambios de los ancianos asiduos en un club para personas ancianas. Métodos: estudio de personas mayores de 55, 67,2 ± 6,6 años, 65,5% (36) siendo mujer. Se utilizó un cuestionario compuesto por variables socio-demográficas y un instrumento de evaluación postural que contiene elementos que evalúan cambios posturales en vistas: anterior, lateral y posterior. Los datos se procesaron en el programa SPSS 19.0. Resultados: se observó una alta prevalencia de ancianos con ausencia de desviaciones posturales, sin embargo, se encontraron algunas deformidades: 60% (33) fue con la cabeza para frente e hiperlordosis presente 49.1% (27). Conclusión: los datos muestran que, aunque aparecieron algunos cambios musculoesqueléticos específicos para el proceso de envejecimiento, la mayoría de los ancianos era normal, lo que refleja la efectividad de las actividades o tratamientos previos destinados a minimizar alteraciones posturales, con la consiguiente mejora en la calidad de vida de la persona mayor...

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia / Displasia óculo-aurículo-vertebral: aspectos clínicos de 41 pacientes brasileiros

SUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

RESUMO Objetivo: descrever os principais achados clínicos de uma coorte de pacientes com a displasia óculo-aurículo-vertebral (OAV). Método: revisão de prontuários médicos dos pacientes com diagnóstico de OAV no período de 1990 a 2010, acompanhados em um centro de genética médica. Resultados: foram incluídos no estudo 41 pacientes. A média de idade ao diagnóstico foi de 2 anos e 10 meses (34,4±48,8 meses) e a proporção de pacientes do sexo feminino foi de 53,7%. A média de idade dos pais ao nascimento do paciente foi de 28,5±6,9 anos para as mães e 31,4±7,4 anos para os pais. A maioria dos indivíduos (97,5%) possuía acometimento auricular, 90,2% tinham manifestações faciais, 65,9%, vertebrais, 53,7%, oculares, 36,6%, cardiovasculares, 29,3%, urogenitais e 17%, no sistema nervoso central. Além disso, 34% dos pacientes apresentavam a tríade clássica óculo-aurículo-vertebral, e todos os pacientes exceto um apresentavam concomitantemente problemas em outros órgãos ou sistemas. Conclusão: já que o diagnóstico desta entidade é eminentemente clínico, é imprescindível que os médicos das mais diversas especialidades conheçam os achados mais frequentes na OAV. Diante de um paciente com suspeita diagnóstica, deve ser realizada avaliação detalhada de outros órgãos, tanto clínica como por meio de exames complementares. O tratamento é baseado na correção cirúrgica das malformações e na reabilitação.

Asociación MURCS: reporte de caso / MURCS Association: case report

La asociación MURCS (Mullerian aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) hace referencia a un conjunto de anomalías congénitas, que sin ser debidas al azar, aparecen de forma concomitante en una persona. Se caracteriza por una aplasia Mülleriana, aplasia renal y displasia cérvico-torácica provocadas por alteraciones en los somitas correspondientes, es de etiología heterogénea. Se presenta el caso de una paciente de 9 años de edad, que es diagnosticada con la asociación MURCS, por presentar agenesia uterina, hipoplasia y ectopia renal unilateral y malformación de la 5ta vértebra cervical. Se enfatiza en la importancia de la búsqueda activa de las otras anomalías diferentes a las Müllerianas para lograr el diagnóstico y realizar un manejo integral e interdisciplinario.

The MURCS association (Mullerian aplasia, renal aplasia, Cervicothoracic Somite dysplasia) (OMIM%601076) refers to a set of congenital abnormalities, without being due to chance, they appear concomitantly in a person. It is characterized by Müllerian aplasia, renal aplasia and cervicothoracic dysplasia caused by alterations in the corresponding somites. We describe a case report of a 9-year-old female, who is diagnosed with MURCS association, to present uterine agenesis, hypoplasia and unilateral renal ectopia and deformity of the 5th cervical vertebra. We emphasize the importance of interdisciplinary care, including a clinical geneticist in the care of patients with these characteristics.

Deficiência de hormônio de crescimento em um paciente com síndrome de VACTERL / Growth hormone deficiency in a patient with VACTERL syndrome

A Síndrome de VACTERL é um conjunto de malformações congênitas, que necessita para o diagnóstico pelo menos três das seguintes alterações: malformações vertebrais, atresia anal, anomalias cardiovasculares, fístula traqueoesofágica, atresia esofágica, malformações renais e displasia dos membros. É relatado caso de paciente com Síndrome de VACTERL e deficiência de hormônio de crescimento. A revisão da literatura aborda uma possível associação entre esses dois diagnósticos clínicos (AU)

The VACTERL syndrome is a set of congenital malformations, which requires at least three of the following changes to be diagnosed: vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal malformations and dysplasia of the limbs. Here we report the case of a patient with VACTERL syndrome and deficiency of growth hormone. A literature review discusses the possible association between these two clinical diagnoses (AU)

Comparison between methods of assessing lumbosacral curve obtained by radiographic image

OBJECTIVE: To investigate the correlation between different radiographic methods in the evaluation of the lumbosacral concavity. METHODS: The sample consisted of 52 individuals with ages ranging from 18 to 28 years old. The procedures related to radiographic image collection were carried out in collaboration with a diagnostic imaging center of a hospital in Curitiba, PR, Brazil. The angles of the lumbosacral concavity were evaluated by the following methods: Centroid, Cobb1L1-S1, Cobb2L1-L5, Cobb3L2-S1 Cobb4T12-S1, Posterior Tangent and Trall. RESULTS: High correlation coefficients (r ranging from 0.77 to 0.89) were found among variations of the Cobb method. Additionally, we propose a categorical classification of angle values obtained by each method. We also analyzed the influence of the level of the inflection point between the lumbar lordosis and thoracic kyphosis in determining the evaluation method to be used. The inflection point had a higher incidence in the region between the twelfth thoracic vertebra and the first lumbar vertebra (63.5%). CONCLUSION: The correlation and agreement between methods vary considerably. Moreover, the thoracolumbar inflection point should be considered when choosing the method of assessing patients. Level of Evidence I, Diagnostic Study.

Aspectos quirúrgicos en deformidades congénitas de la columna vertebral: clínico y radiológico / Surgical aspects in congenital spinal deformities: clinical and radiological

El tratamiento quirúrgico de las deformidades congénitas de la columna vertebral ha evolucionado en los últimos años desde fusiones in situ, hemiepifisiodesis hasta hemivertebrectomía y sustracción pedicular. En la actualidad no hay concenso cual es el procedimiento idóneo. Objetivo: Determinar la eficacia y utilidad de la Hemivertebrectomía y Sustracción Pedicular de los pacientes con Escoliosis Congénita y Cifoescoliosis. Métodos: se estudiaron 18 pacientes intervenidos en el período de enero 2013- diciembre del 2014, en un análisis estadístico retrospectivo. En 12 (66%) pacientes se realizó hemivertebrectomía y a 6 (33%) pacientes sustracción pedicular. Se evaluó edad, sexo, tipo de defecto, grado de corrección, niveles de resección y fusión, evolución neurológica, pérdida de sangre, tiempo quirúrgico y complicaciones. Resultados: se observó un ángulo de Cobb preoperatorio de 46º con escoliosis y 8 casos con ángulo de cifosis de 75º. Los porcentajes de corrección promedio de la escoliosis y la cifosis fueron 59 y 60% respectivamente, y el ángulo en el postoperatorio fue de 23º y 45º. La resección de la hemivertebra fue en un nivel (75%), dos niveles (33%). Se presentaron complicaciones en 8 pacientes, fístula de LCR, infección de la herida, pseudoartrosis, con pérdida de sangre de 528 ml, tiempo quirúrgico de 8 horas, y fusión 70%. Conclusiones: la hemivertebrectomía y la sustracción pedicular, constituyen una alternativa que permiten la corrección de la deformidad y estabilidad de la columna(AU)

Surgical treatment of congenital deformities of the spine has evolved in recent years from mergers in situ, hemiepiphysiodesis to hemivertebrectomy and pedicle subtraction. At present there is no consensus on the appropriate procedure. Objective: To determine the effectiveness and usefulness of the Hemivertebrectomía and Subtraction Pedicular of patients with congenital scoliosis and Kyphoscoliosis. Methods: in a retrospective statistical analysis 18 patients treated in the period January 2013-December 2014, were studied. In 12 (66%) patients a hemivertebrectomy was performed and a pedicle subtraction was performed on the other 6 (33%) patients. Age, sex, type of defect, degree of correction, resection and fusion levels, neurologic outcome, blood loss, operative time and complications were evaluated. Results: The preoperative Cobb angle of 46º with scoliosis and 8 cases with kyphosis angle of 75 ° were observed. The percentages of average correction of scoliosis and kyphosis were 59% and 60% respectively, and the postoperatively angle was 23º and 45º. Hemivertebra resection was on a level (75%); two levels (33%). There were complications in 8 patients, fistula LCR, wound infection, nonunion, with blood loss of 528 ml, operating time of 8 hours, and 70% merger. Conclusions: hemivertebrectomy pedicle subtraction are an alternative that allows the correction of the deformity and column stability(AU)

Moiré topography: an alternative to scoliosis evaluation in student's health

Moire's Topography (MT) is a method that detects scoliosis through shadows assymetry arised in the back. Few studies have discussed time of application, interpretation and operating cost. The aim of this study was to analyze operating aspescts of MT in students and to verify postural alterations by MT in the same group. 58 boys were analyzed in this study and through MT, the presence of shadow (fringes) in the back were evaluated where each assymetry corresponds to about 10º in Cobb's angle. MT marks were used to determine possible deviation. Data of interest received descriptive statistic analysis in variables such as total body mass, body mass index (BMI), weight, scoliosis, average time of analysis and diagnostic, and also the operation cost evaluation of equipment. Subjects (9,91 ± 0,79 years) showed total body mass of 37,83 ± 10,45kg, stature 1,42 ± 0,11m and BDI 18,53 ± 4,15 kg/m². The average time of analysis was 3,25 ± 0,29min. Among subjects 75% had deviation of one fringe in toracolumbar region that shows a scoliosis less than 10º. MT represented a fast method and of low operation cost that could be an important instrument in the screening of scoliosis. We concluded that MS confirmed to be practical and of easy handling where 94,6% subjects showed scoliosis. Our data suggests that the MSP insertion in the students' health care program of scoliosis identification is possible...

A Estereofotografia de Moiré (EFM) é um método que através da assimetria das sombras formadas no dorso detecta escoliose. Poucos os estudos tem discutido o tempo de análise, interpretação e custo operacional desta técnica. Os objetivos deste trabalho foram analisar os aspectos operacionais da (EFM) em escolares e; verificar desvios posturais pela EFM nesse mesmo grupo. Neste estudo foram analisadas 58 meninos e através da EFM, foram avaliadas a presença de sombras (franjas) no dorso, onde cada assimetria corresponde cerca de 10º no ângulo de Cobb. As marcações do EFM foram utilizadas para determinar os possíveis desvios. Os dados interesse receberam tratamento estatístico descritivo nas variáveis massa corporal total, índice de massa corporal (IMC), estatura, escoliose, tempo médio de análise e diagnóstico e, uma avaliação do custo operacional do equipamento. Os sujeitos (9,91 ± 0,79 anos) apresentaram uma massa corporal total de 37,83 ± 10,45kg, estatura 1,42 ± 0,11m e o IMC de 18,53 ± 4,15 kg/m². O tempo médio para análise foi de 3,25 ± 0,29min. Na amostra, 75% tiveram um desvio de até uma franja na região toracolombar o que indica uma escoliose menor que 10º. A EFM constituiu um método rápido e de baixo custo operacional podendo ser um instrumento importante no rastreamento de escoliose. Concluímos que a EFM de confirmou ser prático e de fácil manuseio que 94,6% dos sujeitos apresentaram escoliose. Os nossos dados sugerem que a é viável a inserção da EFM nos programas de saúde em escolares de detecção das escolioses...

Polimorfismo do gene da eca e da a-actinina 3 na escoliose idiopática do adolescente / Polymorphism of the ace gene and the a-actinin-3 gene in adolescent idiopathic scoliosis

Objetivo: O polimorfismo da enzima conversora de angiotensina (ECA) I/D e da α-actinina 3 (ACTN3) R577X está relacionado a variações na função do musculoesquelético. O objetivo deste trabalho foi avaliar a distribuição destes polimorfismos em uma família com múltiplos membros com escoliose idiopática do adolescente. Métodos: avaliação de 25 indivíduos de uma família, com múltiplos membros com escoliose idiopática, por meio da coleta de 10 ml de sangue para extração de DNA. A genotipagem do polimorfismo I/D do gene da ECA e R577X do gene da ACTN3 foi realizada utilizando sistema de 2 iniciadores (‘‘primers’’) específicos, para classificar os indivíduos em homozigotos ou heterozigotos. Resultados: Em relação ao polimorfismo da ECA encontrou-se 19 indivíduos DD (76%) e 6 ID (24%). A prevalência do alelo D foi de 88% e do alelo I foi de 12%. Quanto ao polimorfismo da ACTN3 observou-se seis indivíduos RR (24%), 11 RX (44%) e 8 XX (32%). A prevalência do alelo R foi 23 (46%) e do alelo X foi 27 (54%). Conclusão: observou-se diferença entre a distribuição do polimorfismo da ECA e da ACTN3 na família estudada. Ao avaliar o polimorfismo da ECA notou-se maior prevalência do alelo D em relação ao alelo I. Nível de Evidência III, Estudo Clinico, Transversal.

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.

Craniovertebral junction malformation in Northeastern Brazil: the myth of the Dutch colonization / Malformação da junção craniovertebral no Nordeste do Brasil: o mito da colonização Holandesa

The high prevalence of craniovertebral junction malformation in Northeastern Brazil is historically associated with brachycephalic biotype (flat head), also common in this region. It has been postulated that this trait was introduced to this region by the Dutch during the colonial period in Brazil's history. Based on the confrontation of this paradigm against some historical facts, the authors concluded that the brachycephalic phenotype was inherited from prehistoric ancestors (Amerindians) who were already living in this region when white European men arrived.

A alta prevalência de malformação da junção craniovertebral no Nordeste do Brasil é historicamente associada ao biótipo braquicefálico (cabeça chata), também comum nessa região. Postula-se que essa característica tenha sido introduzida na região pelos holandeses durante o período colonial da história do Brasil. Com base na confrontação desse paradigma com alguns fatos históricos, os autores concluem que o fenótipo braquicefálico foi herdado de ancestrais pré-históricos (ameríndios) que já habitavam a região no momento da chegada do homem branco europeu.

Magnetic Resonance Evaluation of Mullerian Remnants in Mayer-Rokitansky-Kuster-Hauser Syndrome

OBJECTIVE: To analyze magnetic resonance imaging (MRI) findings of Mullerian remnants in young females clinically suspected of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Mullerian remnants, vagina, ovaries, and associated findings. RESULTS: All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 +/- 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. CONCLUSION: Typical Mullerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.