Clinical outcomes of 20 brachycephalic dogs with thoracolumbar spinal deformities causing neurological signs treated with spinal stabilization using 3D-printed patient-specific drill guides.

OBJECTIVE: To describe the clinical outcomes for pugs and French bulldogs with congenital vertebral malformations, undergoing thoracolumbar spinal stabilization surgery using 3D-printed patient-specific drill guides. To evaluate the accuracy of pedicle screw placement in this group of dogs. STUDY DESIGN: Retrospective descriptive study. ANIMALS: Twenty dogs (12 pugs and eight French bulldogs). METHODS: Medical records searched between August 2018 and March 2021 for pugs and French bulldogs diagnosed with congenital vertebral abnormalities via magnetic resonance imaging (MRI) scan and computed tomography (CT) scan causing T3-L3 myelopathy signs that underwent spinal stabilization surgery using 3D-printed patient-specific drill guides followed by a postoperative CT scan. The short-term outcome was based on the neurological grade (modified Frankel score-MFS) on the day after surgery, day of discharge, and at the follow-up examination at 4 to 6 weeks after surgery. The mid-term outcome was obtained via an online questionnaire (or direct examination in one case). RESULTS: Twenty dogs met the inclusion criteria (19/20 grade 2 MFS, 1/20 grade 4 MFS). No complications were reported in the immediate postoperative period and optimal pedicle screw placement was obtained in 169/201 of screws. Twenty-four hours after surgery 16/20 dogs displayed an unchanged neurological grade. Short-term outcomes revealed a static (17/20) or improved (2/20) neurological grade. Ten owners participated in the online questionnaire. All patients were reported to be ambulatory; however, 7/10 dogs displayed abnormal gait. Neurological signs had remained static (6/10) or improved (3/10) in comparison with the dogs' preoperative status at a median of 883.5 days from the surgery. CONCLUSION: Dogs in this study had a favorable short-term outcome and mid-term outcome evaluation revealed a static/improved neurological status. CLINICAL SIGNIFICANCE: Thoracolumbar spinal stabilization surgery using 3D-printed patient-specific drill guides showed a favorable outcome in brachycephalic breeds affected by vertebral deformities.

[Imaging characteristics and surgical effect for symmetrical lumbar hemivertebrae].

Objective: To analyze the imaging characteristics and surgical effect for symmetrical lumbar hemivertebrae in pediatric patients. Methods: The data of 13 patients with hemivertebrae locating in the lumbar spine symmetrically were retrospectively analyzed, and all the patients were treated in Beijing Children's Hospital from January 2015 to September 2021. The mean age of the patients was 6.2 (2.9, 9.3) years. There were 8 males and 5 females. The data of coronal/sagittal plane including segmental Cobb angle, cranial/caudal compensatory curve, thoracic kyphosis, thoracolumbar kyphosis, sacral obliquity, and lumbar lordosis were recorded through long cassette spinal radiographs. Associated anomalies and the relationship between hemivertebrae and posterior component were recorded through computerized tomography (CT) and magnetic resonance imaging (MRI). All the patients received surgery, and their pre-and postoperative imaging data were compared. Results: A total of 26 hemivertebraes were found, in which 80.8% (21/26) located below L2. Hemivertebraes in 10 patients were separated by a mean 1-2 normal vertebrae. Most hemivertebraes along with the corresponding posterior component were unison (21/26, 80.8%). The Cobb angles of cranial compensatory curve (13.9°±7.2°) was more serious than that of caudal compensatory curve (5.5°±5.0°)(P=0.04). The lumbar lordosis and thoracic kyphosis was 20.2°±15.0° and 18.7°±9.2°, respectively. Six patients complicated with sacral obliquity, while 7 patients complicated with thoracolumbar lordosis. Associated anomalies were found in 6 (46.2%) patients through CT and MRI. Eleven patients received one-or two-stage posterior hemivertebrae resection with short segmental fusion, and 2 patients received one-stage hemivertebrae resection with long segmental fusion. All the surgery were completed successfully without serious complications such as nerve injury, infection, and implant failure. The mean follow-up period was (42.4±10.2) months. At the last follow-up point, the correction rate of segmental Cobb angle and cranial compensatory curve was 83.3%±15.6% and 38.1%±10.4%, respectively, showing significant improvement (P<0.05). Although the caudal compensatory curve, sacral obliquity, and thoracic kyphosis improved after surgery, the data showed no significant difference compared to that before surgery. Thoracolumbar lordosis in all patients were corrected. Conclusions: Most hemivertebraes in such spinal deformity locate in lower lumbar region with a high incidence of anomalies. Individualized treatment based on patients' condition is essential for the complicated spinal deformity.

Posterior-Only T11 Vertebral Column Resection for Pediatric Congenital Kyphosis Surgical Correction.

Background: Congenital kyphosis is a spinal deformity that arises from the inadequate anterior development or segmentation of the vertebrae in the sagittal plane during the initial embryonic stage. Consequently, this condition triggers atypical spinal growth, leading to the manifestation of deformity. Concurrently, other congenital abnormalities like renal or cardiac defects within the gastrointestinal tract may co-occur with spinal deformities due to their shared formation timeline. In light of the specific characteristics of the deformity, the age range of the patient, deformity sizes, and neurological conditions, surgical intervention emerges as the optimal course of action for such cases. The selection of the appropriate surgical approach is contingent upon the specific characteristics of the anomaly. Case Presentation: This investigation illustrates the utilization of a surgical posterior-only strategy for correcting pediatric congenital kyphoscoliosis through the implementation of a vertebral column resection method along with spine reconstruction employing a mesh cage. The individual in question, a 16-year-old female, exhibited symptoms such as a progressive rib hump, shoulder asymmetry, and back discomfort. Non-invasive interventions like bracing proved ineffective, leading to the progression of the spinal curvature. After the surgical procedure, diagnostic imaging displayed a marked enhancement across all three spatial dimensions. After a postoperative physical assessment, it was noted that the patient experienced significant enhancements in shoulder alignment and rib hump prominence, with no discernible neurological or other adverse effects. Conclusions: Surgical intervention is considered the optimal approach for addressing such congenital anomalies. Typically, timely surgical intervention leads to favorable results and has the potential to halt the advancement of deformity and curvature enlargement.

Is deformity correction essential in a "Myelopathic Cord"? - A case series.

INTRODUCTION: The incidence of preoperative neurological deficits in pediatric patients with complex deformities ranges from 15% to 23%. Furthermore, the likelihood of a postoperative neurological deficit can be considerably increased to 83.3% in the presence of a preoperative neurological deficit. Hence, the management of pediatric spinal deformities with neurological deficits is a challenge for every spine surgeon. Here, we describe four consecutive cases of pediatric spinal deformity with myelopathic cord, all of which were managed with decompressive surgery and stabilization without any attempts to correct the deformity. All the patients recovered well neurologically, without any progression of deformity. CASE PRESENTATION: The authors obtained the informed written consent from the patient and their parents for the print and electronic publication of the case. All four patients had clinical myelopathy with a progressive, worsening neurological deficit. The pathology was in the thoracic region in all the patients. Of the four cases, two were post-tubercular deformities, and two were congenital deformities. The treatment strategy for all patients was circumferential decompression of the spinal cord with posterior pedicle screw instrumentation. Although all patients had significant neurological deficits (Nurick grade 4 or 5) preoperatively, we used intraoperative neuromonitoring to prevent the worsening of the deficit during the procedure. None of the patients experienced intraoperative signal changes. All patients had significant neurological recovery (Nurick grade 0 to 2) and showed no worsening of deformity at their latest follow-up, up to 4 years. All showed good improvement in all domains of the SRS22r questionnaire. DISCUSSION: It is challenging for spine surgeons to manage complex spinal abnormalities in pediatric patients with myelopathic cords. Even a minimal manipulation of the cord during surgery might result in severe long-term morbidity. The primary objective in managing such patients should be neurological recovery rather than deformity correction-"First do no harm," and if necessary, the deformity can be corrected at a later stage under neuromonitoring.

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

OBJECTIVES: Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of Pakistan. METHODS: The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant. RESULTS: Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before. CONCLUSIONS: The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.

The association between variations in the number of thoracic and lumbar vertebrae and rib morphology in adolescent idiopathic scoliosis.

PURPOSE: Preoperative counting of thoracic and lumbar vertebrae is crucial in adolescent idiopathic scoliosis (AIS) due to reported anatomical variations and potential surgical site misidentification. This study investigated characteristics associated with the vertebral number variations AIS, particularly focusing on rib morphology. METHODS: Based on three-dimensional computed tomography, patients were categorized into the non-variant number group, comprising individuals with 12 thoracic and 5 lumbar vertebrae, and the variant number group, comprising individuals with different numbers of vertebrae. Additionally, the most caudal rib morphology was classified as normal, unilateral, or hypoplastic. RESULTS: A total of 359 patients were included in our study (41 males, 318 females, age: 16.3 ± 3.1 years), with 44 patients (12.3%) assigned to the variant number group. Logistic regression analysis identified unilateral ribs (odds ratio [OR]: 10.50) and lumbosacral transitional vertebrae (LSTV) (OR 6.49) as significant risk factors associated with variations. Further analysis revealed hypoplastic ribs as a significant risk factor associated with LSTV (OR: 4.58). 8 CONCLUSION: Our study suggests that abnormal rib morphology may be associated with vertebral number variations. Close attention to rib morphology is, therefore, warranted in cases with atypical vertebral numbers. Accordingly, to ensure surgical safety and accuracy, spine surgeons must communicate these variations to the surgical team, standardize nomenclature for describing them, and intraoperatively verify fusion levels with them.

Spinopelvic morphology impacts on postoperative proximal junctional kyphosis in congenital scoliosis with thoracolumbar hemivertebrae.

PURPOSE: It aims to investigate the lumbar and pelvic morphology in congenital scoliosis with thoracolumbar hemivertebrae and its impact on proximal junctional kyphosis (PJK) incidence after hemivertebra resection and short fusion. METHODS: 23 congenital scoliosis patients with thoracolumbar hemivertebra aged between 10 and 18 years were enrolled in the retrospective study. Spinopelvic sagittal parameters were analyzed on whole-spine standing lateral radiographs preoperatively, one-week postoperatively and at the final follow-up. Pearson correlations were calculated for local kyphosis (LK), lumbar and pelvic morphology parameters. Binary logistic regression and receiver operating characteristics (ROC) curve analysis were performed to identify the risk factors for PJK. RESULTS: Thoracolumbar hemivertebra caused LK of 29.2° ± 17.3°, an increased lumbar lordosis (LL) (-64.7° ± 16.3°), lower LL apex (52.2% at L5), and small pelvic incidence (PI) (36.8° ± 6.6°). LK was correlated with lumbar morphology parameters, including LL (r = - 0.837), upper arc of LL (LLUA) (r = - 0.879), thoracolumbar kyphosis (TLK) (r = 0.933), thoracic kyphosis (TK) (r = 0.762) and TK apex (TKA) (r = - 0.749). Surgical treatment improved the lumbar morphology, but not pelvic morphology. At the final follow-up, LL had returned to its preoperative value (p = 0.158). PJK occurred in 30.4% of cases as a compensatory mechanism. Preoperatively, significant differences of parameters between non-PJK and PJK groups were observed in LK and TLK. Binary logistic regression identified three independent risk factors for PJK: preoperative LLA (OR = 0.005, 95%CI = 0.000-0.287, p = 0.011), preoperative TLK (OR = 1.134, 95%CI = 1.001-1.286, p = 0.048), and preoperative lumbar lordosis morphology type (OR = 5.507, 95%CI = 1.202-25.227, p = 0.028). However, residual LK after surgery was not correlated with PJK incidence. ROC curve analysis verified that preoperative TLK > 22.59° was associated with increased PJK incidence after surgery. CONCLUSIONS: Lumbar morphology changes as a compensatory mechanism beneath the thoracolumbar hemivertebra. However, a stable pelvis tends to allow the LL to return to its preoperative value. PJK occurred as a cranial compensatory mechanism for increasing LL and corrected TLK. A larger TLK (> 22.59°) was an independent risk factor for PJK incidence in patients with type 2 and 3A lumbar lordosis morphology.

Use of a Customized Three-dimensional Guide in Preparing the Pilot Pedicle Hole in Spinal Deformities / Uso de guia tridimensional personalizado no preparo do orifício do pedículo piloto em deformidades da coluna vertebral

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.

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral / Klippel-Feil autosomal dominant syndrome: a malformation of vertebral segmentation

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.

Congenital hemangioma in spondylocostal dysostosis: a novel association

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.

Dorsal pancreas agenesis - a rare case report

Dorsal pancreatic agenesis is a rare pancreatic anomaly. We report a 47-year-old female patient who attended the medicine outdoor with complaint of intermittent upper abdominal pain for 6 months of duration. She was not a known diabetic or hypertensive. Mild splenomegaly was detected on abdominal examination. Ultrasonography of abdomen showed cholelithiasis, splenomegaly with dilated portal veins and multiple porto-systemic collateral. The pancreas was not visualized due to bowel gas shadow. Contrast-enhanced computed tomography of the abdomen revealed absent pancreatic body and tail with stomach/small bowels occupying the pancreatic bed anterior to splenic vein along with features of portal hypertension, cholelithiasis, malrotated left kidney and left extrarenal pelvis. Magnetic resonance cholangiopancreatography confirmed nonvisualization of the pancreatic duct except a small remnant of the ventral duct of the pancreas and an absent dorsal part of pancreas. Our case report is a rare combination of dorsal pancreatic bud agenesis with malrotated kidney and extrarenal pelvis

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Upper thoracic vertebral abnormalities in a patient with rheumatoid arthritis

No abstract available.

Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association / Bilateral tibial hemimelia tipo 1 (1a e 1b) com hemivertebras T9 e T10: uma nova associacao

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. .

Validation, repeatability and reproducibility of a noninvasive instrument for measuring thoracic and lumbar curvature of the spine in the sagittal plane / Validade, repetibilidade e reprodutibilidade de um instrumento não-invasivo para medição das curvaturas torácica e lombar da coluna vertebral no plano sagital

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.

Neurofibromatose tipo 1: aspectos radiológicos do tórax / Type 1 neurofibromatosis: radiological findings of the chest

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.

MURCS association and hypothalamic anovulation

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