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1.
Rev. bras. ortop ; 57(3): 375-383, May-June 2022. tab, graf
Article in English | LILACS | ID: biblio-1388029

ABSTRACT

Abstract Objective The present study aimed to develop and evaluate the use of customized guides in patients undergoing surgery to correct vertebral deformity with a pedicular fixation system. Methods Four patients with spinal deformity (three with idiopathic scoliosis and one with congenital kyphoscoliosis) underwent surgical treatment to correct the deformity with a pedicular fixation system. Prototypes of 3D cost guides were developed and evaluated using technical feasibility, accuracy, and radiation exposure. Results The present study included 85 vertebral pedicles in which pedicle screws were inserted into the thoracic spine (65.8%) and into the lumbar spine (34.2%). Technical viability was positive in 46 vertebral pedicles (54.1%), with 25 thoracic (54%) and 21 lumbar (46%). Technical viability was negative in 39 pedicles (45.9%), 31 of which were thoracic (79.5%), and 8 were lumbar (20.5%). In assessing accuracy, 36 screws were centralized (78.2%), of which 17 were in the thoracic (36.9%) and 19 in the lumbar spine (41.3%). Malposition was observed in 10 screws (21.7%), of which 8 were in the thoracic (17.4%) and 2 in the lumbar spine (4.3%). The average radiation record used in the surgical procedures was of 5.17 ± 0.72 mSv, and the total time of use of fluoroscopy in each surgery ranged from 180.3 to 207.2 seconds. Conclusion The customized guide prototypes allowed the safe preparation of the pilot orifice of the vertebral pedicles in patients with deformities with improved accuracy and reduced intraoperative radiation.


Resumo Objetivo O presente estudo teve como objetivo desenvolver e avaliar a utilização de guias personalizadas em pacientes submetidos a cirurgia para correção de deformidades vertebrais com sistema de fixação pedicular. Métodos Quatro pacientes com deformidade espinhal (três casos de escoliose idiopática e um caso de cifoescoliose congênita) foram submetidos a tratamento cirúrgico corretivo com sistema de fixação pedicular. Protótipos de guias tridimensionais foram desenvolvidos e avaliados quanto à viabilidade técnica, precisão e exposição à radiação. Resultados O presente estudo incluiu 85 pedículos vertebrais submetidos à inserção de parafusos pediculares na coluna torácica (65,8%) e na coluna lombar (34,2%). A viabilidade técnica foi positiva em 46 pedículos vertebrais (54,1%), sendo 25 torácicos (54%) e 21 lombares (46%). A viabilidade técnica foi negativa em 39 pedículos (45,9%), sendo 31 torácicos (79,5%) e 8 lombares (20,5%). Quanto à precisão, 36 parafusos foram centralizados (78,2%), sendo 17 na coluna torácica (36,9%) e 19 na coluna lombar (41,3%). O mau posicionamento foi observado em 10 parafusos (21,7%), sendo 8 na coluna torácica (17,4%) e 2 na coluna lombar (4,3%). A radiação média registrada nos procedimentos cirúrgicos foi de 5,17 ± 0,72 mSv, e o tempo total de uso da fluoroscopia em cada cirurgia variou de 180,3 a 207,2 segundos. Conclusão Os protótipos de guias personalizadas permitiram o preparo seguro do orifício piloto nos pedículos vertebrais em casos de deformidade, com maior precisão e menor exposição intraoperatória à radiação.


Subject(s)
Humans , Congenital Abnormalities , Thoracic Vertebrae/abnormalities , Fractures, Bone/surgery , Vertebral Body
3.
Rev. chil. pediatr ; 90(2): 194-201, abr. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1003737

ABSTRACT

INTRODUCCIÓN: El síndrome de Klippel-Feil constituye un desorden esquelético complejo altamente heterogéneo caracterizado por la fusión congénita de dos o más vértebras cervicales. La triada clínica clásica consiste en cuello corto, implantación baja del cabello y limitación para los movimientos del cue llo. Las mutaciones asociadas se localizan en los loci del gen GDF3 (cromosoma 12p13.31), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31). OBJETIVO: Describir los hallazgos clínico- radiológicos y genealogía de una paciente con síndrome de Klippel-Feil. CASO CLÍNICO: Paciente de 5 años de edad con cuello corto, cabello de implantación baja posterior, limitación para los movimientos de lateralización. La radiografía cervical en flexión y extensión evidenció bloques de fusión entre C1-2-3, C4-5 y C6-7. En la tomografía axial computarizada de tórax se apreció múltiples hemivértebras del tercio superior de las vértebras torácicas correspondientes a las costillas I-IV. El cariotipo fue normal, 46, XX. La penetrancia reducida estuvo presente en cinco de los miembros de la familia. La fusión de C2-3 predominó en cuatro y en un individuo la fusión baja en C5-6. Tres de los cinco individuos afectados tenían fusión entre el hueso grande y ganchoso. CONCLUSIÓN: La malformación de segmentación vertebral congénita constituye un caso de interés por tratarse de un diagnóstico infrecuente en la edad pediátrica y cuya sospecha puede generarse a partir del examen clínico, estudio de imágenes complementado con la interpretación de la genealogía en los trastornos de herencia mendeliana, permitiendo brindar un oportuno asesoramiento genético a la familia.


INTRODUCTION: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12pl3.31), GDF6 (chromosome 8q22.1), and MEOXI (chromosome 17q21.31). OBJECTIVE: To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome. CLINICAL CASE: A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs 1-tv. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone. CONCLUSION: The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.


Subject(s)
Humans , Female , Child, Preschool , Thoracic Vertebrae/abnormalities , Cervical Vertebrae/abnormalities , Klippel-Feil Syndrome/diagnosis , Thoracic Vertebrae/diagnostic imaging , Cervical Vertebrae/diagnostic imaging
4.
An. bras. dermatol ; 91(5,supl.1): 23-25, Sept.-Oct. 2016. graf
Article in English | LILACS | ID: biblio-837921

ABSTRACT

Abstract Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling.


Subject(s)
Humans , Female , Infant, Newborn , Skin Neoplasms/congenital , Abnormalities, Multiple/pathology , Hemangioma/congenital , Hernia, Diaphragmatic/pathology , Nervous System Neoplasms/congenital , Skin Neoplasms/pathology , Skin Neoplasms/diagnostic imaging , Thoracic Vertebrae/abnormalities , Thoracic Vertebrae/diagnostic imaging , Abnormalities, Multiple/diagnostic imaging , Meningomyelocele/pathology , Meningomyelocele/diagnostic imaging , Hemangioma/pathology , Hemangioma/diagnostic imaging , Hernia, Diaphragmatic/diagnostic imaging , Nervous System Neoplasms/pathology , Nervous System Neoplasms/diagnostic imaging , Neural Tube Defects/pathology , Neural Tube Defects/diagnostic imaging
6.
São Paulo med. j ; 131(4): 275-278, 2013. tab, graf
Article in English | LILACS | ID: lil-688761

ABSTRACT

CONTEXT Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (< 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia. .


CONTEXTO Ausência congênita da tíbia é uma anomalia rara, com incidência em 1 por 1.000.000 de nascidos vivos, é principalmente esporádica e pode ser identificada como um distúrbio isolado ou como parte de síndromes de malformações. RELATO DO CASO Criança do sexo masculino, nascida de pais não afetados e não consanguíneos, apresentou-se com encurtamento das pernas e adução de ambos os pés. O exame físico realizado com seis meses de idade mostrou perímetro cefálico 44,5 cm (percentil 75), comprimento de 60 cm (percentil < 3), peso 7.700 g (percentil 50), encurtamento da coxa esquerda e as duas pernas com o pé varo bilateralhavia. Não houve dismorfismos craniofaciais, nem tórax, abdômen, genitais e anomalias das extremidades superiores. O desenvolvimento psicomotor foi normal. Os exames, incluindo ultrassonografia renal e da cabeça, potenciais auditivos evocados de tronco cerebral e exames oftalmológicos e cardiológicos, estavam normais. Raios-X revelou ausência bilateral da tíbia com fíbula intacta, hipoplasia distal do fêmur esquerdo e fêmur direito normal. Além disso, as radiografias de coluna mostraram hemivértebras em T9 e T10. CONCLUSÃO Esta associação nova expande o espectro de hemimelia tibial. Além disso, esta observação destaca a utilidade de tal método diagnóstico barato (raios-X), caracterizando a grande variabilidade clínica e radiológica de hemimelia tibial. .


Subject(s)
Humans , Infant , Male , Ectromelia , Thoracic Vertebrae/abnormalities , Thoracic Vertebrae , Tibia/abnormalities , Ectromelia/physiopathology , Reproducibility of Results , Thoracic Vertebrae/physiopathology , Tibia/physiopathology , Tibia
7.
Braz. j. phys. ther. (Impr.) ; 15(6): 511-517, Nov.-Dec. 2011. ilus, graf, tab
Article in English | LILACS | ID: lil-611333

ABSTRACT

BACKGROUND: The need for early identification of postural abnormalities without exposing patients to constant radiation has stimulated the development of instruments aiming to measure the spinal curvatures. OBJECTIVE: To verify the validity, repeatability and reproducibility of angular measures of sagittal curvatures of the spine obtained using an adapted arcometer, by comparing them with Cobb angles of the respective curvatures obtained by using X-rays. METHODS: 52 participants were submitted to two procedures designed to evaluate the thoracic and lumbar curvatures: (1) X-ray examination from which the Cobb angles (CA) of both curvatures were obtained, and (2) measuring the angles with the arcometer (AA). Two evaluators collected the data using the arcometer, with the rods placed at T1, T12, L1 and L5 spinous processes levels in a way as to permit linear measurements which, with aid of trigonometry, supplied the AA. RESULTS: There was a very strong and significant correlation between AA and CA (r=0.94; p<0.01), with no-significant difference (p=0.32), for the thoracic curvature. There was a strong and significant correlation for the lumbar curvature (r=0.71; p<0.01) between AA and CA, with no-significant difference (p=0.30). There is a very strong correlation between intra-evaluator and inter-evaluator AA. CONCLUSION: It was possible to quantify reliably the thoracic and lumbar curvatures with the arcometer and it can thus be considered valid and reliable and for use in evaluating spinal curvatures in the sagittal plane.


CONTEXTUALIZAÇÃO: A necessidade de identificação precoce de alterações posturais, sem expor as pessoas à radiação constante, tem estimulado a construção de instrumentos para medir as curvaturas da coluna vertebral. OBJETIVO: Verificar a validade, repetibilidade e reprodutibilidade dos ângulos das curvaturas sagitais da coluna vertebral, obtidos por meio de um arcômetro adaptado, comparando-os com os ângulos de Cobb (AC) das respectivas curvaturas, obtidos por meio de exames radiográficos. MÉTODOS: Cinquenta e dois indivíduos foram submetidos a dois procedimentos destinados a avaliar as curvaturas torácica e lombar: (1) exame de raios-X, a partir do qual os AC de ambas as curvaturas foram obtidos e (2) medição dos ângulos das curvaturas com o arcômetro (AA). Dois avaliadores coletaram os dados usando o arcômetro com as hastes sobre os processos espinhosos T1, T12, L1 e L5, de modo a permitir medidas que, com auxílio de trigonometria, forneceram os AA. RESULTADOS: Encontrou-se correlação muito forte e significativa entre AA e AC (r=0,94, p<0,01), sem diferença significativa (p=0,32) para a curvatura torácica, enquanto, para a curvatura lombar, encontrou-se uma forte e significativa correlação (r=0,71, p<0,01) entre AA e AC, sem diferença significativa (p=0,30). Existe uma correlação muito forte intra-avaliador e inter-avaliador nos AA. CONCLUSÃO: O arcômetro permitiu quantificar as curvaturas torácica e lombar, podendo-se considerar as medições válidas, fidedignas e objetivas para uso na avaliação de curvaturas da coluna vertebral no plano sagital.


Subject(s)
Female , Humans , Male , Middle Aged , Kyphosis/pathology , Lordosis/pathology , Lumbar Vertebrae/abnormalities , Physical Examination/instrumentation , Thoracic Vertebrae/abnormalities , Cross-Sectional Studies , Equipment Design , Reproducibility of Results
8.
Radiol. bras ; 43(3): 167-170, maio-jun. 2010. ilus
Article in English, Portuguese | LILACS | ID: lil-552307

ABSTRACT

OBJETIVO: Identificar alterações e frequências nas radiografias simples do tórax sugestivas de neurofibromatose tipo 1 e avaliar a possibilidade de inclusão de massa no mediastino posterior como critério de diagnóstico de neurofibromatose tipo 1. MATERIAIS E MÉTODOS: Foram realizadas radiografias com técnica padrão de tórax em póstero-anterior e em perfil de 141 pacientes com neurofibromatose tipo 1, atendidos no Serviço de Radiologia do Hospital de Base e Faculdade de Medicina de São José do Rio Preto, SP. Os resultados obtidos foram avaliados por métodos não paramétricos ao nível de 0,05 de significância (p = 0,05). RESULTADOS: No presente estudo, 141 pacientes com neurofibromatose tipo 1 realizaram radiografia de tórax, sendo as alterações mais frequentes: erosão óssea das costelas (19,8 por cento), peito escavado (12,0 por cento), cifoescoliose (3,5 por cento) e massas no mediastino posterior (7,1 por cento). Esses resultados sugerem que as massas (neurofibroma e meningocele) devem ser incluídas como critério diagnóstico para neurofibromatose tipo 1, juntamente com displasia do osso esfenoide, pseudoartrose e afinamento do córtex de ossos longos, conforme definido pelo National Institutes of Health. CONCLUSÃO: A presença das massas no mediastino posterior associada às alterações ósseas características definidas pelo National Institutes of Health indicam ser um achado consistente para se considerar como critério diagnóstico da doença.


OBJECTIVE: To identify chest radiography findings suggestive of type 1 neurofibromatosis, establishing their frequency and evaluating the possibility of including the presence of posterior mediastinal masses as a criterion for the diagnosis of type 1 neurofibromatosis. MATERIALS AND METHODS: The present study included 141 patients with type 1 neurofibromatosis assisted at the Service of Radiology of Hospital de Base and Faculdade de Medicina de São José do Rio Preto, SP, Brazil, and submitted to standard chest radiography in postero-anterior and lateral views. The results were analyzed by non-parametric methods and the level of statistical significance was set at 0.05 (p = 0.05). RESULTS: The most frequent findings were the following: ribs erosion (19.8 percent), pectus excavatum (12.0 percent), kyphoscoliosis (3.5 percent) and posterior mediastinal masses (7.1 percent). Such results suggest that posterior mediastinal masses (neurofibroma and meningocele) should be included as a diagnostic criterion of type 1 neurofibromatosis, in conjunction with dysplasia of the sphenoid wing, pseudoarthrosis and thinning of long bone cortex, as defined by the National Institutes of Health. CONCLUSION: The presence of posterior mediastinal masses in association with the typical bone changes defined by the National Institutes of Health is a consistent finding to be considered as a diagnostic criterion of the disease.


Subject(s)
Humans , Male , Female , Neurofibromatosis 1 , Thorax , Thoracic Vertebrae/abnormalities , Radiography, Thoracic
11.
16.
Rev. invest. clín ; 44(1): 115-21, ene.-mar. 1992. ilus, tab
Article in English | LILACS | ID: lil-111016

ABSTRACT

Se describe un nuevo caso de la asociación de MURCS (aplasia de ductos müllerianos, aplasia renal y displasia de las somitas cérvico-torácicas) en un paciente de 18 años de edad. Además de presentar otras características fenotípicas alteradas, se documentó la presencia de anovulación crónica hipotalámica. Las concentraciones basales de prolactina, tirotrofina, hormona de crecimiento, cortisol y estradiol se encontraron dentro de los límites de referencia para mujeres adultas. A la estimulación con TRH y ACTH se observaron respuestas dentro de los límites de referencia en términos de tirotrofina y cortisol respectivamente. Las concentraciones basales de LH y FSH, así como la estimulación con LHRH, demostraron disociación de ambas gonadotropinas. Los valores basales de progesterona se encontraron, a lo largo de un mes, en concentraciones acordes con la fase folicular. Esto último condujo al diagnóstico de anovulación crónica hipotalámica la cual fue confirmada mediante la inducción de ovulación con citrato de clomifeno. Este hallazgo demuestra la importancia de llevar a cabo evaluaciones endocrinológicas detalladas en pacientes con el diagnóstico de MURCS, con el fin de prevenir y/o tratar alteraciones secundarias a deficiencias endocrinológicas


Subject(s)
Humans , Adolescent , Female , Abnormalities, Multiple , Anovulation/diagnosis , Adrenal Glands/abnormalities , Kidney/abnormalities , Cervical Vertebrae/abnormalities , Thoracic Vertebrae/abnormalities
20.
Indian J Chest Dis Allied Sci ; 1983 Apr-Jun; 25(2): 141-2
Article in English | IMSEAR | ID: sea-29988
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