Validation of a deep learning algorithm for bone age estimation among patients in the city of São Paulo, Brazil / Validação de algoritmo de aprendizado profundo para detecção da idade óssea em pacientes de São Paulo, Brasil

Abstract Objective: To validate a deep learning (DL) model for bone age estimation in individuals in the city of São Paulo, comparing it with the Greulich and Pyle method. Materials and Methods: This was a cross-sectional study of hand and wrist radiographs obtained for the determination of bone age. The manual analysis was performed by an experienced radiologist. The model used was based on a convolutional neural network that placed third in the 2017 Radiological Society of North America challenge. The mean absolute error (MAE) and the root-mean-square error (RMSE) were calculated for the model versus the radiologist, with comparisons by sex, race, and age. Results: The sample comprised 714 examinations. There was a correlation between the two methods, with a coefficient of determination of 0.94. The MAE of the predictions was 7.68 months, and the RMSE was 10.27 months. There were no statistically significant differences between sexes or among races (p > 0.05). The algorithm overestimated bone age in younger individuals (p = 0.001). Conclusion: Our DL algorithm demonstrated potential for estimating bone age in individuals in the city of São Paulo, regardless of sex and race. However, improvements are needed, particularly in relation to its use in younger patients.

Resumo Objetivo: Validar em indivíduos paulistas um modelo de aprendizado profundo (deep learning - DL) para estimativa da idade óssea, comparando-o com o método de Greulich e Pyle. Materiais e Métodos: Estudo transversal com radiografias de mão e punho para idade óssea. A análise manual foi feita por um radiologista experiente. Foi usado um modelo baseado em uma rede neural convolucional que ficou em terceiro lugar no desafio de 2017 da Radiological Society of North America. Calcularam-se o erro médio absoluto (mean absolute error - MAE) e a raiz do erro médio quadrado (root mean-square error - RMSE) do modelo contra o radiologista, com comparações entre sexo, etnia e idade. Resultados: A amostra compreendia 714 exames. Houve correlação entre ambos os métodos com coeficiente de determinação de 0,94. O MAE das predições foi 7,68 meses e a RMSE foi 10,27 meses. Não houve diferenças estatisticamente significantes entre sexos ou raças (p > 0,05). O algoritmo superestimou a idade óssea nos mais jovens (p = 0,001). Conclusão: O nosso algoritmo de DL demonstrou potencial para estimar a idade óssea em indivíduos paulistas, independentemente do sexo e da raça. Entretanto, há necessidade de aprimoramentos, particularmente em pacientes mais jovens.

Effects of sport on skeletal development in adolescents / Efeitos do esporte no desenvolvimento esquelético de adolescentes / Efectos del deporte en el desarrollo del esqueleto en los adolescentes

ABSTRACT Introduction Incomplete skeletal development in adolescents and children depends on several factors such as genetic load, diet, and environment. Appropriate physical exercise can improve youth's physical fitness, but its effect on bone density is still questioned. Objective Verify the influence of appropriate physical activity on adolescents' bone development. Methods Among 3240 students aged 12 to 16 years from 4 schools, 96 students (52 males) were selected for observation. They were divided into a control and an experimental group, with a sports activity protocol inserted into the latter. Family and student questionnaires, physical examinations, and X-rays were used for data collection. Statistical analysis of factors including sports and development of adolescents' height quality was extensively documented. Results The skeletal development in adolescents on regular participation in sports is better than that in adolescents not involved in sports. Conclusion Physical exercise can promote skeletal development in adolescents. Evidence Level II; Therapeutic Studies - Investigating the result.

RESUMO Introdução O desenvolvimento incompleto do esqueleto de adolescentes e crianças depende de vários fatores como carga genética, alimentação e ambiente. O exercício físico apropriado pode melhorar a aptidão física do jovem, porém ainda há interrogações de seu efeito sobre a densidade óssea. Objetivo Verificar a influência da atividade física apropriada sobre o desenvolvimento ósseo em adolescentes. Métodos Entre 3240 estudantes com 12 a 16 anos de 4 escolas, selecionou-se 96 estudantes (52 homens) para observação. Divididos entre grupo controle e experimental, com protocolo de atividades esportivas inseridos nesse último. Para a coleta de dados foram utilizados questionários familiares e estudantis, exames físicos e radiografia. A análise estatística de fatores como esportes e desenvolvimento da qualidade da altura dos adolescentes foi amplamente documentada. Resultados O desenvolvimento esquelético de adolescentes que participam regularmente de esportes é melhor do que o de adolescentes que não participam de esportes. Conclusão O exercício físico pode promover o desenvolvimento ósseo nos adolescentes. Nível de evidência II; Estudos Terapêuticos - Investigação de Resultados.

RESUMEN Introducción El desarrollo incompleto del esqueleto de los adolescentes y los niños depende de varios factores como la carga genética, la nutrición y el entorno. Un ejercicio físico adecuado puede mejorar la forma física de los jóvenes, pero su efecto sobre la densidad ósea sigue siendo cuestionado. Objetivo Comprobar la influencia de una actividad física adecuada en el desarrollo óseo de los adolescentes. Métodos Entre 3240 estudiantes de 12 a 16 años de 4 escuelas, se seleccionaron 96 estudiantes (52 varones) para observación. Se dividieron entre los grupos de control y los experimentales, insertando el protocolo de actividad deportiva en estos últimos. Para la recogida de datos se utilizaron cuestionarios de la familia y de los alumnos, exámenes físicos y radiografías. El análisis estadístico de factores como el deporte y el desarrollo de la calidad de la estatura de los adolescentes se documentó ampliamente. Resultados El desarrollo del esqueleto de los adolescentes que practican regularmente un deporte es mejor que el de los adolescentes que no lo practican. Conclusión El ejercicio físico puede promover el desarrollo óseo en los adolescentes. Nivel de evidencia II; Estudios terapéuticos - Investigación de resultados.

Comparison of the reproducibility of two cervical vertebrae maturation methods

Aim: Facial orthopaedic treatments based on the stimulation or restrictions of craniofacial bone growth are more effective when carried out during the pubertal growth spurt. The aim of this cross-sectional study was to evaluate the reproducibility of two cervical vertebrae methods (CVM) with manual tracing and direct visual inspection. Methods: A sample of 60 lateral cephalometric radiographs (10 of each of the 6 CVM stages) was randomly selected from 171 records. 5 orthodontists classified these radiographs according to the skeletal maturation stage in 2002 and 2005, and the application of both methods was conducted by direct visual inspection and evaluation through manual tracing. Results: The average reliability of the two methods determination and the two forms of evaluation was substantial. The direct visual inspection evaluation showed the highest reliability and agreement interexaminer values for both methods, as well as the intraexaminers evaluation. Conclusion: The reproducibility of CVM method was substantial, indicating its clinical use to determine the skeletal maturity and the ideal moment for treatment execution

Hipocondroplasia en pediatría: reporte de un caso / Hypocondroplasya in pediatrics: case study / Hipocondroplasia em pediatia: relato de caso

La hipocondroplasia es una displasia esquelética caracterizada por baja estatura, constitución robusta, brazos y piernas desproporcionadamente cortos, manos y pies anchos y cortos, leve laxitud articular y macrocefalia. Los niños generalmente se presentan como pequeños, con velocidad de crecimiento disminuida, que conduce a una baja estatura y desproporción de las extremidades. La hipocondroplasia en la mayoría de los casos se hereda con carácter autosómico dominante, aunque se detectan numerosos casos esporádicos. El diagnóstico requiere una exhaustiva anamnesis y adecuada exploración física. Es importante valorar algunos indicadores de crecimiento como: peso para la edad, longitud/talla para la edad, relación entre peso y longitud/talla, velocidad de crecimiento, talla diana genética, medidas de segmentos corporales, entre otros. Las radiografías esqueléticas permiten diagnosticar la mayoría de las displasias óseas. Los estudios moleculares suelen ser la prueba de confirmación y se solicitan ante una sospecha diagnóstica. Es importante incluir las displasias óseas en el diagnóstico diferencial de la talla baja y tenerlas en cuenta ante cualquier caso de talla baja disarmónica con alteraciones fenotípicas. La hipocondroplasia en la actualidad, no es una indicación aprobada para tratamiento con hormona del crecimiento. Se presenta un caso clínico de una niña de 14 meses, con talla baja severa, desproporcionada, que presentó dificultades para llegar al diagnóstico definitivo de hipocondroplasia.

Hypochondroplasia is a skeletal dysplasia characterized by short height, robust build, disproportionately short arms and legs, short and broad hands and feet, mild joint laxity, and macrocephaly. Children generally show slow growth rate, which leads to short stature and limb disproportion. Hypochondroplasia is mostly inherited with an autosomal dominant character, although many sporadic cases have been detected. Diagnosis requires a thorough history and adequate physical examination. It is important to assess some growth indicators such as: weight for age, length/height for age, relationship between weight and length/height, growth speed, genetic target height, measurements of body segments, among others. Skeletal XRs can diagnose most bone dysplasias. Molecular studies are usually the confirmatory test and are requested when a diagnosis is suspected. It is important to include bone dysplasias in the differential diagnosis of short stature and to take them into account for any disharmonious short stature with phenotypic alterations. Hypochondroplasia is currently not an approved indication for growth hormone therapy. We present a clinical case of a 14-month-old girl, with a severe, disproportionate short stature, who presented difficulties in her definitive hypochondroplasia diagnosis.

A hipocondroplasia é uma displasia esquelética caracterizada por baixa estatura, constituição robusta, braços e pernas desproporcionalmente curtos, mãos e pés largos e curtos, frouxidão articular leve e macrocefalia. As crianças geralmente são pequenas, com diminuição da velocidade de crescimento, o que leva à baixa estatura e desproporção dos membros. A hipocondroplasia na maioria dos casos é herdada com caráter autossômico dominante, embora sejam detectados numerosos casos esporádicos. O diagnóstico requer uma história completa e um exame físico adequado. É importante avaliar alguns indicadores de crescimento como: peso para idade, comprimento/altura para idade, relação entre peso e comprimento/altura, taxa de crescimento, estatura alvo genético, medidas de segmentos corporais, entre outros. As radiografias esqueléticas permitem o diagnóstico da maioria das displasias ósseas. Os estudos moleculares são geralmente o teste de confirmação e são solicitados quando há suspeita de diagnóstico. É importante incluir as displasias ósseas no diagnóstico diferencial da baixa estatura e considerá-las em qualquer caso de baixa estatura desarmônica com alterações fenotípicas. A hipocondroplasia não é atualmente uma indicação aprovada para o tratamento com hormônio de crescimento. Apresenta-se o caso clínico de uma menina de 14 meses, com baixa estatura grave e desproporcional, que apresentou dificuldades em chegar ao diagnóstico definitivo de hipocondroplasia.

Research progress on the role of transforming growth factor-β in tooth and craniofacial bone development and diseases / 口腔疾病防治

@#Dental and craniofacial bone development is a highly coordinated process that is tightly controlled by genetics and influenced by complex environments. The abnormal regulation of many development-related signaling molecules may lead to abnormal tooth development, severe craniofacial bone formation disorders, and developmental deformities. Transforming growth factor-β (TGF-β) is widely expressed in vivo and participates in many cellular biological processes, showing complex regulatory roles in mammalian craniofacial bone growth and tooth development. In tooth development, abnormal TGF-β signaling can lead to the failure of tooth germ formation, and its deletion mutation can directly affect odontoblast differentiation and enamel formation defects. However, the current research on TGF-β mainly focuses on the early stage of tooth development, and a comprehensive and systematic study of TGF-β-related tooth development is lacking. TGF-β signal transduction mainly controls the development of teeth and craniofacial bone by regulating the expression of development-related molecules via the classical Smad-dependent signaling pathway. In addition, the nonclassical mitogen-activated protein kinase (MAPK) pathway also participates in this process. Abnormal TGF-β signaling may cause jaw development disorders, temporomandibular joint dysplasia and inflammation, and cleft palate. Because the specific regulatory mechanism of TGF-β in craniofacial bone development has not been fully elucidated, its specific application in the treatment of related diseases is also greatly limited. This paper describes the new research progress of TGF-β in the development of teeth, jaws, temporomandibular joints and palate as well as related diseases.

O consumo de farinha de taro (Colocasia esculenta) favorece a integridade óssea em ratos machos / Taro (Colocasia esculenta) flour intake enable bone integrity in male rats

Objetivo: A proposta deste estudo foi investigar a composição óssea em ratos tratados com dieta suplementada com farinha de taro (Colocasia esculenta) até eles completarem 90 dias de idade. Métodos: No momento do desmame, os ratos foram divididos em grupo controle (C, n = 11) e experimental (T, n = 12) ­ composto por animais tratados com farinha de taro até os 90 dias de idade. Ingestão alimentar, massa e comprimento corporal foram avaliados semanalmente ao longo de todo o período experimental. Dimensões ósseas, bem como a densidade mineral óssea (DMO), conteúdo mineral ósseo (CMO), área óssea total e propriedades biomecânicas foram determinadas no final de 90 dias. Resultados: Grupo T apresentou elevados valores (P<0.05) para massa e comprimento corporal; DMO, CMO e área óssea da coluna vertebral; DMO na quarta vértebra lombar; massa femoral, distância entre as epífises, largura do ponto médio da diáfise, DMO, força máxima e concentrações séricas de osteocalcina, quando comparado ao grupo controle. Conclusões: A ingestão da farinha de taro apresentou efeito positivo na saúde óssea. (AU)

Objective: This study aimed to investigate bone composition in male rats treated with diet supplemented with taro (Colocasia esculenta) flour until their 90 days. Methods: Weanling male rats were divided into control (C, n=11) and experimental group (T, n=12); the latter comprised animals treated with taro flour until their 90 days. Food intake, body mass and length were evaluated on a weekly basis throughout the experimental period. Spine bone dimension, as well as bone mineral density (BMD), mineral content (BMC), total area and biomechanical properties were determined after 90 days. Results: T group recorded higher values for (P<0.05) body mass and length; BMD, BMC and total spinal area; BMD of the fourth lumbar vertebra; femoral mass, distance between epiphysis, medial point of diaphysis width, BMD, maximum strength and osteocalcin concentrations than the control. Conclusion: Taro flour intake had positive effect on bone health. (AU)

Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake

SUMMARY BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement including low bone mineral density (BMD). OBJECTIVE To assess the bone phenotype of individuals with NF1 and verify its association with nutrient intake. METHODS Twenty-six adults with NF1 underwent bone phenotype assessments using dual-energy X-ray absorptiometry (DXA) and food intake evaluations. They were compared to 26 unaffected matched control patients. Weight, height, and waist circumference (WC) were measured. DXA provided total body, spine, and hip BMDs and bone mineral content (BMC) for all patients. Food intake was evaluated for energy, macro- and micro-nutrients. RESULTS Height (1.68 ± 0.1; 1.61 ± 0.1 cm; P = 0.003) and BMC (2.3 ± 0.4; 2.0 ± 0.5 kg; P = 0.046) were lower in the NF1 group. Individuals with NF1 also presented lower total body and spine BMDs (g/cm2) (1.1 ± 0.1, 1.0 ± 0.1, P = 0.036; 1.0 ± 0.1, 0.9 ± 0.1; P = 0.015, respectively). The frequency of total body bone mass below the expected level for patients' ages was higher in the NF1 group (7.7%; 34.6%, P = 0.016). There were no differences in energy consumption. No correlations between BMC and BMD with nutrient intake were observed in the NF1 group. CONCLUSIONS The NF1 group presented lower BMCs and BMDs. Although a lower consumption of calcium, iron, and vitamin A, and a higher intake of sodium and omega-6 were observed, there was no relationship between bone phenotype and nutrient intake.

RESUMO INTRODUÇÃO A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante caracterizada por envolvimento neurocutâneo e multissistêmico, incluindo baixa densidade mineral óssea (DMO). OBJETIVOS Avaliar características ósseas em indivíduos com NF1 e verificar associação com a ingestão de nutrientes. METODOLOGIA 26 adultos com NF1 submeteram-se a avaliação dos parâmetros ósseos usando absorciometria com raios-X de dupla energia (DXA), além da avaliação da ingestão alimentar. O grupo NF1 foi comparado e pareado com 26 indivíduos sem a doença. Peso, estatura e circunferência da cintura foram avaliados. DXA forneceu o conteúdo mineral ósseo (CMO) e a DMO do corpo total, coluna e fêmur. A ingestão de calorias, macronutrientes e micronutrientes foi avaliada. RESULTADOS O grupo NF1 apresentou redução da estatura (1,68 ± 0,1; 1,61 ± 0,1 cm; P=0,003) e do CMO (2,3 ± 0,4; 2,0 ± 0,5 kg; P=0,046). Indivíduos com NF1 também apresentaram redução da DMO de corpo total e coluna (g/cm2) (1,1 ± 0,1, 1,0 ± 0,1, P=0,036; 1,0 ± 0,1, 0,9 ± 0,1; P=0,015, respectivamente). A frequência de indivíduos com massa óssea abaixo do esperado para a idade foi maior no grupo NF1 (7,7%; 34,6%, P=0,016). Não houve diferenças no consumo energético. Não houve correlação entre CMO e DMO com a ingestão de nutrientes no grupo NF1. CONCLUSÕES O grupo NF1 apresentou redução do CMO e da DMO. Apesar de menor consumo de cálcio, ferro e vitamina A, e maior consumo de sódio e ômega-6, não foi observada relação entre o fenótipo ósseo e a ingestão de nutrientes.

Chronic consumption of alcohol adversely affects the bone of young rats / Consumo crônico de álcool afeta negativamente o osso de ratos jovens

ABSTRACT Objective: To assess the effect of chronic alcohol consumption on the longitudinal growth of the tibia and bone quality parameters in young rats under an experimental setup. METHODS: The control (n=10) rats received only water. The ethanol (n=10) rats received ethyl alcohol at concentrations established in the protocol for the induction of chronic alcohol consumption. The blood samples were immediately collected via cardiac puncture and processed to evaluate the levels of alkaline phosphatase by automated spectrophotometry. Following blood sample collection, both tibias were dissected, and weighed; the tibial length was measured., and the samples were stored in a freezer for future analysis of the bone mineral content and mechanical resistance, known as maximal load and stiffness. RESULTS: Compromised bone health, with a 35.3% decrease in the serum alkaline phosphatase levels (p < 0.01), a 10% decrease in the tibial mass (p < 0.05), and a 5.3% decrease in the tibial length (p < 0.0001) were noted. Furthermore, a 10% decrease in the bone mineral density was observed (p < 0.01), which led to a 17.2% decrease in the maximum strength (p < 0.01) and 22.6% decrease in stiffness (p < 0.001). CONCLUSION: Chronic consumption of alcohol affected the bones of young rats, making them weaker and osteopenic. In addition, the long bones were shorter, suggesting interference with growth. Level of Evidence III, Case Control Study.

RESUMO Objetivo: Verificar a influência do consumo experimental crônico de álcool no crescimento longitudinal da tíbia e em parâmetros de qualidade óssea de ratos jovens. Métodos: Dez ratos controle receberam água, outros dez receberam álcool etílico nas concentrações estabelecidas no protocolo para indução. Após eutanásia, as amostras de sangue foram coletadas por punção cardíaca e processadas para avaliar os níveis de fosfatase alcalina por espectrofotometria automatizada. Após a coleta de sangue, ambas as tíbias foram dissecadas, pesadas e medidas em comprimento. Foram realizadas análises do conteúdo mineral ósseo e resistência mecânica, por meio da análise da força máxima e rigidez. Resultados: Houve comprometimento da saúde óssea, com redução de 35,3% no nível de fosfatase alcalina no plasma (p<0,01), redução de 10% na massa da tíbia (p<0,05) e queda de 5,3% no comprimento das tíbias (p<0,0001). Também foi observada redução de 10% na densidade mineral óssea (p<0,01), que levou à redução de 17,2% na força máxima (p<0,01) e 22,6% na rigidez (p<0,001). Conclusão: O consumo crônico de álcool afetou os ossos de ratos jovens, tornando-os mais fracos e osteopênicos. Ainda, os ossos longos eram mais curtos, sugerindo interferência no crescimento. Nível de evidência III, Estudo caso-controle.

Avaliação fisioterapêutica em criança com malformação congênita de membro inferior: um relato de caso / Physiotherapy evaluation in children with congenital malformation of lower members: a case study

Este trabalho teve como objetivo realizar uma avaliação fisioterapêutica em um voluntário com malformação congênita do membro inferior direito, a fim de conhecer seus aspectos motores e funcionais, devido ao fato de ser um caso peculiar com incidência de 1 a cada 100.000 nascidos vivos. Tratou-se de um relato de caso, realizado na clínica escola de fisioterapia de uma universidade do interior do Estado de São Paulo. Os procedimentos consistiram em: anamnese, exame físico, escalas e instrumentos de avaliação do controle, índice de Barthel modificado, plataforma de força e avaliação postural. Pode-se observar através da avaliação fisioterapêutica alterações posturais relevantes com assimetrias entre os hemicorpos, déficit de equilíbrio e diminuição de força muscular no membro inferior direito, o que acarreta uma alteração biomecânica importante no participante avaliado. Essas informações coletadas durante as avaliações são essenciais para conhecer as alterações físicas decorrentes da malformação congênita para promover um melhor direcionamento em seu tratamento.

A physiotherapy evaluation has been undertaken with a voluntary subject with congenital malformation of the right lower limber to understand motor and functional aspects of the issue. The fact has an occurrence of 1/100000 live births. The case study has been undertaken in a physiotherapy school at a university clinical in the interior of the state of São Paulo, Brazil. Procedures included anamnesis, physical examination, scales and instruments for control assessment, modified Barthel Index, force platform and posture evaluation. Physiotherapeutic evaluation revealed significant posture changes with asymmetry between the hemibodies, deficit in equilibrium and lessening of muscular force in the right lower member, with subsequent important biomechanical changes in the patient. Information collected during evaluations is essential to understand the physical alternations due to congenital malformation for better results through treatment.

Costilla o dedo (falange) pélvico: una serie de casos / Pelvic Rib or Pelvic Digit: A Series of Cases

El dedo (falange) pélvico es una alteración benigna resultante de una anomalía en el desarrollo óseo, donde se encuentra una estructura ósea con apariencia radiológica característica en los tejidos blandos, especialmente en relación con la articulación coxofemoral, aunque puede tener otras localizaciones. Se trata de una entidad benigna que usualmente es asintomática y se encuentra como hallazgo incidental. Conocer su origen y características imaginológicas es de gran importancia para poderla diferenciar de otras lesiones como osificaciones postraumáticas o lesiones por avulsión, que son frecuentes en esta misma localización. Se presentan seis casos con hallazgo incidental de dedo pélvico en diferentes modalidades diagnósticas

The pelvic digit is a benign entity resulting from an abnormality in bone development, where a bony structure with a characteristic radiological appearance is found in the soft tissues, especially in relation to the hip joint, although it may be found at other locations. It is usually asymptomatic and is found as an incidental finding. Knowing its origin and imaging characteristics is of great importance to differentiate it from other injuries such as post-traumatic ossification or avulsion injuries, which are frequent in this same location. Six cases, from the institution, with incidental finding of pelvic digit in different diagnostic modalities are presented.

Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review / 中华儿科杂志

Objective@#To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI).@*Methods@#The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who was admitted to the Department of Pediatrics in Peking Union Medical College Hospital in October 2016 were analyzed. Then literature review was done after searching articles in PubMed and several Chinese databases with the key words "spondyloenchondrodysplasia with immune dysregulation" up to the date of November 2017.@*Results@#A 12-year-old girl was admitted to local hospital for complaint of "recurrent fever over one month" in October 2016. She was diagnosed with type Ⅱ autoimmune hepatitis for abnormal liver function, elevated immunoglobulin G, positive anti-liver-kidney microsomal antibody and medium to severe interface hepatitis verified by liver biopsy. Systemic lupus erythematosus was also suspected based on positive antinuclear antibody and anti-dsDNA antibody, decreased complements, reduced white blood cells and hemoglobin. Methylprednisolone and azathioprine were started based on the diagnosis. However, she experienced mycoplasma pneumoniae and suspected fungal infections during the treatment. Detailed history revealed the history of developmental retardation since birth, and cerebral palsy diagnosed when she was 2 years old. She also underwent surgery at the age of eight for eversion of her right foot. Based on the abnormal findings of immune system, skeleton and nervous system, certain primary immunodeficiency disease was speculated. Gene sequencing was performed, which revealed compound heterozygous mutations in ACP5 gene (NM_001111035.2) (c.798dupC, p. S267Lfs*20, paternal; c.716G>A, p. G239D, maternal). With X-ray of the vertebrae showed multiple platyspondyly, the diagnosis was corrected as SPENCDI and type Ⅱ autoimmune hepatitis. Then she was treated with prednisone (60 mg/d) and mycophenolate mofetil (1.5 g/d). All symptoms resolved on 3-month follow-up, with normalized activity indexes of autoimmune hepatitis and systemic lupus erythematosus. A total of 25 articles (1 Chinese, 24 English) were reviewed, with 74 SPENCDI patients reported. The most common manifestations were skeletal abnormalities (74/74, 100%), autoimmune diseases (47/74, 63.5%), dwarfism (45/74, 60.8%), and nervous system symptoms (25/74, 33.8%). A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent.@*Conclusions@#Vertebral and metaphyseal dysplasia, nervous system symptoms, and strong predisposition to autoimmune diseases are the hallmarks of SPENCDI. SPENCDI should be considered in dwarf with or without autoimmune diseases or nervous system symptoms.

Second hand tobacco smoke adversely affects the bone of immature rats

OBJECTIVES: To evaluate the influence of secondhand cigarette smoke exposure on longitudinal growth of the tibia of growing rats and some parameters of bone quality. METHODS: Forty female rats were randomly divided into four groups: control: rats were sham exposed; 30 days: rats were exposed to tobacco smoke for 30 days; 45 days: rats were exposed to tobacco smoke for 45 days; and 60 days: rats were exposed to tobacco smoke for 60 days. Blood samples were collected to evaluate the levels of cotinine and alkaline phosphatase. Both tibias were dissected and weighed; the lengths were measured, and the bones were then stored in a freezer for analysis of bone mineral content and mechanical resistance (maximal load and stiffness). RESULTS: Exposure of rats to tobacco smoke significantly compromised bone health, suggesting that the harmful effects may be time dependent. Harmful effects on bone growth were detected and were more pronounced at 60-day follow-ups with a 41.8% reduction in alkaline phosphatase levels (p<0.01) and a decrease of 11.25% in tibia length (p<0.001). Furthermore, a 41.5% decrease in bone mineral density was observed (p<0.001), leading to a 42.8% reduction in maximum strength (p<0.001) and a 56.7% reduction in stiffness (p<0.001). CONCLUSION: Second hand cigarette smoke exposure in rats affected bones that were weaker, deforming them and making them osteopenic. Additionally, the long bone was shorter, suggesting interference with growth. Such events seem to be related to time of exposure.

Effect of extract ethanol and water decoction of Psoralea corylifolia L.on bone development and their toxicities in zebrafish / 中国药理学与毒理学杂志

OBJECTIVE To investigate the bone development activity and differences in safety of ethanol extract (EE) and water decoction (WD) of Psoralea corylifolia L.efficiently.METHODS Zebrafish larvae were co-exposed to prednisolone 25 μmol· L-1 and different concentrations of EE and WD (0.1,1.0,10 and 100 mg crude drug· L-1),and etidronate disodium (ED) 30 mg·L-1.All these groups were incubated at 28.5℃ until 9 dpf.The medium solution was changed every other day.Zebrafish skeleton at 9 dpf was stained with alizarin red and inspected under an optical microscope,in addition,the death toll and organ toxicity of zebrafish were also observed.The mRNA expression of osteoprotegrin (OPG) and receptor activator of NF-κB ligand (RANKL) in 9 dpf zebrafish were determined with fluorescence quantitative PCR.Zebrafish embryos (1 dpf) were exposed to various concentrations of EE (10,20,30,35,40,50 and 60 mg crude drug· L-1),WD (10,50,100,125,150,175,200 and 500 mg crude drug· L-1),psoralen (12.5,25.0,50.0,100.0,200.0 and 400.0 μmol·L-1) and bakuchiol (1,5,10,25 and 50 μmol· L-1).Embryonic morphology of zebrafish (3 dpf) was inspected with an optical microscope and the death toll of embryos or larvale was counted from 2 dpf to 9 dpf and LC50was calculated.Components of EE and WD ware analyzed by HPLC method.RESULTS Both EE (0.1 mg crude drug· L-1) and WD (1.0 mg crude drug· L-1) groups could increase the staining area and optical density values of zebrafish skeleton compared with prednisolone group (P＜0.01),indicating the increase in bone mineralization;the OPG mRNA expression in both EE and WD (1.0 mg crude drug· L-1) groups increased,while the RANKL mRNA expression decreased (P＜0.01) and the ratio of OPG/RANKL improved obviously (P＜0.01).Embryos exposed to EE,WD,psoralen and bakuchiol showed swelling of the heart and yalk sac,and decrease in GOT.The LC50 of WD and psoralen was 5～8 and 5～21 times that EE and bakuchiol,respectively.The composition and relative content of EE and WD also varied considerably.CONCLUSION Bone development activity and toxicity of EE are both stronger than those of WD.The lipid soluble characteristic components of Psoralea corylifolia L.,may be critical components of toxicity.

Clinical and Radiological Outcomes after Microscopic Bilateral Decompression via a Unilateral Approach for Degenerative Lumbar Disease: Minimum 5-Year Follow-Up

STUDY DESIGN: A retrospective study. PURPOSE: To assess postoperative bone regrowth at surgical sites after lumbar decompression with >5 years of follow-up. Postoperative preservation of facet joints and segmental spinal instability following surgery were also evaluated. OVERVIEW OF LITERATURE: Previous reports have documented bone regrowth after conventional laminectomy or laminotomy and several factors associated with new bone formation. METHODS: Forty-nine patients who underwent microscopic bilateral decompression via a unilateral approach at L4–5 were reviewed. Primary outcomes included correlations among postoperative bone regrowth, preservation of facet joints, radiographic parameters, and clinical outcomes. Secondary outcomes included comparative analyses of radiographic parameters and clinical outcomes among preoperative diagnoses (lumbar spinal stenosis, degenerative spondylolisthesis, and degenerative lumbar scoliosis). RESULTS: The average value of bone regrowth at the latest follow-up was significantly higher on the dorsal side of the facet joint (3.4 mm) than on the ventral side (1.3 mm). Percent facet joint preservation was significantly smaller on the approach side (79.2%) than on the contralateral side (95.2%). Bone regrowth showed a significant inverse correlation with age, but no significant correlation was observed with facet joint preservation, gender, postoperative segmental spinal motion, or clinical outcomes. Subanalysis of these data revealed that bone regrowth at the latest follow-up was significantly greater in patients with degenerative lumbar scoliosis than in those with lumbar spinal stenosis. Postoperative segmental spinal motion at L4–L5 did not progress significantly in patients with degenerative spondylolisthesis or degenerative lumbar scoliosis compared with those with lumbar spinal stenosis. CONCLUSIONS: Microscopic bilateral decompression via a unilateral approach prevents postoperative spinal instability because of satisfactory preservation of facet joints, which may be the primary reason for inadequate bone regrowth. Postoperative bone regrowth was not related to clinical outcomes and postoperative segmental spinal instability.

Age-related changes in bone architecture / Alterações na estrutura óssea relacionadas à idade

ABSTRACT Objective : to evaluate the histologic and morphometric characteristics of bone biopsies of the anterior iliac crest of patients of different age groups. Methods : we studied 30 bone samples from the iliac crest, using brightfield optical microscopy. We divided the samples by donors' age groups in three groups: Group 1 (n = 10), subjects aged between 25 and 39 years; Group 2 (n = 10), subjects aged between 40 and 64 years; Group 3 (n = 10), individuals aged 65 years and over. We randomly divided the samples into two sets with 15 specimens. In the first study segment (n = 15), we used histological to assess the osteogenic property of the graft, through the analysis of cell reserve in the periosteum, the number of osteocytes in the lacunae and the number of Haversian and Volkmann's canals. In the second study segment (n = 15), we investigated the morphology of osteoconductive property of the graft, through quantification of the trabecular meshwork (Vv) and trabecular area (Sv). Results : histologically, we observed degeneration of bone occurring with age, characterized by thinning of the periosteum, with gradual replacement of the steogenic layer by fibrous tissue, small amount of Haversian and Volkmann's canals, osteocyte lacunae voids and fine spongy bone trabeculae, allowing ample medullary space, usually occupied by fat cells and adipocytes. Morphologically, with respect to the quantification of the trabecular meshwork (Vv), we found statistically significant differences between Groups 1 and 3 and between Groups 2 and 3, with reduction of the trabecular meshwork of about 45% in the elderly over 65 years old ; there was no statistically significant difference between Groups 1 and 2. There was also no statistical difference between the Groups regarding Sv. Conclusion : the results of this experiment suggest that, in the elderly (over 65 years old), the osteogenic property of autologous bone graft decreases and the osteoconductive property is compromised.

RESUMO Objetivo: avaliar as características histológicas e morfométricas de biópsias ósseas da região anterior da crista ilíaca de pacientes de diferentes faixas etárias. Métodos: foram estudadas 30 amostras de osso da crista ilíaca, utilizando-se microscopia óptica de campo claro. As amostras foram divididas pela faixa etária dos doadores em três grupos: Grupo 1 (n = 10), indivíduos com idade entre 25 e 39 anos; Grupo 2 (n = 10), indivíduos com idade entre 40 e 64 anos; Grupo 3 (n = 10), indivíduos com idade igual ou superior a 65 anos. As amostras foram separadas aleatoriamente em dois conjuntos com 15 peças. No primeiro segmento do estudo (n = 15), foi avaliada histologicamente a propriedade osteogênica do enxerto, através da análise da reserva celular no periósteo, do número de osteócitos nas lacunas e da quantidade de canais de Havers e de Volkmann. No segundo segmento do estudo (n = 15), investigou-se morfologicamente a propriedade osteocondutora do enxerto, através da quantificação da rede trabecular (Vv) e da área trabecular (Sv). Resultados: histologicamente, observou-se que ocorre degeneração do tecido ósseo com a idade, caracterizada pelo adelgaçamento do periósteo, com substituição gradual da camada osteogênica por tecido fibroso, pequena quantidade de canais de Havers e de Volkmann, osteoplastos vazios e trabéculas finas de osso esponjoso, permitindo amplo espaço medular, em geral ocupado por células lipídicas e adipócitos. Morfologicamente, com relação à quantificação da rede trabecular (Vv), foi observada diferença estatisticamente significante entre os Grupos 1 e 3 e entre os Grupos 2 e 3, com redução da rede trabecular de cerca de 45% no idoso acima de 65 anos de idade; não foi observada diferença estatisticamente significante entre os Grupos 1 e 2. Não foi observada diferença estatística entre os grupos quanto à Sv. Conclusão: os achados do presente experimento sugerem que nos indivíduos idosos (acima de 65 anos de idade), a propriedade osteogênica do enxerto ósseo autólogo diminui e a propriedade osteocondutora está comprometida.

Reporte de caso de síndrome FATCO: aplasia fibular, campomelia de tibia y oligosindactilia / A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly

El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

The effect of prenatal exposure to 1800 MHz electromagnetic field on calcineurin and bone development in rats

PURPOSE: To investigated the effects of exposure to an 1800 MHz electromagnetic field (EMF) on bone development during the prenatal period in rats. METHODS: Pregnant rats in the experimental group were exposed to radiation for six, 12, and 24 hours daily for 20 days. No radiation was given to the pregnant rats in the control group. We distributed the newborn rats into four groups according to prenatal EMF exposure as follows: Group 1 was not exposed to EMF; groups 2, 3, and 4 were exposed to EMF for six, 12, and 24 hours a day, respectively. The rats were evaluated at the end of the 60th day following birth. RESULTS: Increasing the duration of EMF exposure during the prenatal period resulted in a significant reduction of resting cartilage levels and a significant increase in the number of apoptotic chondrocytes and myocytes. There was also a reduction in calcineurin activities in both bone and muscle tissues. We observed that the development of the femur, tibia, and ulna were negatively affected, especially with a daily EMF exposure of 24 hours. CONCLUSION: Bone and muscle tissue development was negatively affected due to prenatal exposure to 1800 MHz radiofrequency electromagnetic field.

Técnica de diafanización para describir el desarrollo embrionario del sistema óseo. Revisión de la literatura / Diaphanization technique for the description of the embryonic development of the skeletal system. Systematic literature review

Introduction: The anatomic diaphanization technique consists in the transparency of soft tissues of vertebrate organisms (clearing), in order to dye the mineralized tissue and visualize bone and cartilage (staining). Objective: To review the reports available on specialized literature that describes the embryonic development of mammal ́s skeletal system through the diaphonization technique and simple staining or double staining processes. Materials and methods: A literature review was made on PubMed, Academic Google and SciELO, based on PRISMA, through the association of the term double staining with the health descriptors of the Medical Subject Headings (MeSH) alizarin red, alician blue, bone and cartilage , and the combination of the Boolean operators + and &. Results: There were included 22 articles that described the diaphanization technique and the simple staining or double staining technique used in the observation, registration and analysis of the embryonic development of mammal ́s skeletal system. Conclusion: The diaphanization technique and simple staining or double staining technique is an anatomic study technique­versatile and of low cost­of the embryonic development of mammal ́s skeletal system, which may be used in toxicology studies, discarding the possibility of developmental anomalies during the cartilage or bone formation (chondrogenesis and osteogenesis, respectively) associated to the exposure to a possible teratogenic agent.

Characteristics of Bone Development in Children with Cerebral Palsy / 中国康复理论与实践

@#Objective To observe the characteristics of bone development and body development in 3-7 years old children with cerebral palsy. Methods 50 girls and 50 boys aged 3-7 years with cerebral palsy were included. Their height, weight, length of right and left upper extremities, and both hands bone age were measured by trained professionals. Results Their bone ages of both hands were 1 year younger than actual age (P<0.05), and there was no significant difference between right and left hand bone age (P>0.05). Their height growth was in line with the normal children, while the weight growth was a little different. Both sides of upper limbs growed synchronously, and slowed down with the time. There was no significant difference in both sides (P>0.05). Conclusion The bone development of children with cerebral palsy lags behind the life age. Their height growth is close to normal children. The development shows no no significant lateral dominance.