Research Progress of Age Estimation in the Living by Knee Joint MRI / 法医学杂志

Bone development shows certain regularity with age. The regularity can be used to infer age and serve many fields such as justice, medicine, archaeology, etc. As a non-invasive evaluation method of the epiphyseal development stage, MRI is widely used in living age estimation. In recent years, the rapid development of machine learning has significantly improved the effectiveness and reliability of living age estimation, which is one of the main development directions of current research. This paper summarizes the analysis methods of age estimation by knee joint MRI, introduces the current research trends, and future application trend.

Crecimiento guiado en extremidades inferiores / Guided growth in lower extremities

El crecimiento guiado es una opción quirúrgica de uso creciente para la corrección de las deformidades angulares de extremidades inferiores en pacientes esqueléticamente inmaduros. Es posible de realizar en múltiples planos o segmentos, con excelentes resultados. Su uso más frecuente es en deformidades del plano coronal alrededor de la rodilla. La epifisiodesis permanente se puede realizar en pacientes dentro de los dos años previos al término del crecimiento longitudinal del segmento a tratar, considerando la epifisiodesis temporal para los pacientes con más de 2 años de crecimiento restante.En casos leves a moderados las tasas de éxito llegan incluso al 100% en algunas series, en tanto, pacientes con enfermedad de Blount, obesidad, edad esquelética avanzada o deformidades severas, tienen menos posibilidades de lograr una corrección completa.Independientemente de la técnica quirúrgica, es necesario una adecuada planificación preoperatoria, educación familiar y un seguimiento estricto para así minimizar las complicaciones y permitir una excelente corrección de la deformidad con una morbilidad mínima.

Guided Growth is a surgical option of increasing use for the correction of angular deformities of the lower extremities in skeletally immature patients. It is possible to perform in multiple planes or segments, with excellent results. Its most frequent use is in deformities of the coronal plane around the knee. Permanent epiphysiodesis can be performed in patients within 2 years before the end of longitudinal growth of the segment to be treated, considering temporary epiphysiodesis for patients with more than 2 years of remaining growth.In mild to moderate cases, the success rates reach even 100% in some series, while patients with Blount's disease, obesity, advanced skeletal age or severe deformities are less likely to achieve a complete correction.Regardless of the surgical technique, adequate preoperative planning, family education and strict follow-up are necessary to minimize complications and allow excellent correction of the deformity with minimal morbidity

Presencia de cresta ósea en la epífisis proximal de la tibia: propuesta para su incorporación en la terminologia anatomica / Presence of a bony crest in the proximal epiphysis of the tibia: proposal for its incorporation in the terminologia anatomica

RESUMEN: La Terminologia Anatomica (TA) presenta las estructuras anatómicas en un lenguaje unificado para todas las estructuras del cuerpo humano. Sin embargo, hay características como algunos accidentes óseos que no se han considerado en las actualizaciones de la TA, ya sean epónimos que no se han relacionado con términos actuales o estructuras descritas clásicamente, como es el caso de una característica ósea que se observa y palpa fácilmente en la epífisis proximal de la tibia, a nivel del cóndilo lateral, uniendo el tubérculo anterolateral de la tibia con la tuberosidad de la misma. Esta característica corresponde a una elevación lineal, descrita como lugar de inserción del tracto iliotibial y del músculo tibial anterior. Basado en lo anterior, se analizaron 65 tibias de individuos Chilenos, adultos, de ambos sexos, 60 pertenecientes a la Universidad de La Frontera y 5 a la Universidad San Sebastián, considerando como criterio de inclusión la integridad del tejido compacto en la epífisis proximal. La revisión de las muestras reveló la presencia de una elevación lineal en el 100 % de los casos, uniendo la tuberosidad de la tibia con el tubérculo anterolateral (Gerdy), no observándose elevación similar desde la tuberosidad de la tibia en dirección al cóndilo medial. Esta elevación es utilizada como referencia en la palpación durante la evaluación de la rodilla. Por las evidencias presentadas, consideramos que esta elevación debe considerarse en la TA como una característica más de la tibia, en base a su disposición lineal y elevada, además de su dirección oblicua desde la tuberosidad de la tibia al tubérculo anterolateral de la misma, por lo que proponemos denominarla como cresta anterolateral de la tibia (Crista anterolateralis tibiae).

SUMMARY: Anatomical Terminology (AT) presents anatomical structures in a unified language for all structures of the human body. However, there are characteristics such as some bone accidents that have not been considered in the TA updates, whether they are eponyms that have not been related to current terms or classically described structures, as is the case of a characteristic bone that is easily observed and palpated in the proximal epiphysis of the tibia, at the level of the lateral condyle, joining the anterolateral tubercle of the tibia with the tuberosity of the tibia. This characteristic corresponds to a linear elevation, described as the insertion site of the iliotibial tract and the tibialis anterior muscle. Based on the above, 65 tibiae from Chilean individuals, adults, of both sexes, 60 belonging to the Universidad de La Frontera and 5 from the Universidad San Sebastián were analyzed, considering as an inclusion criterion the integrity of the compact tissue in the epiphysis proximal. The review of the samples revealed the presence of a linear elevation in 100 % of the cases, joining the tibial tuberosity with the anterolateral tubercle (Gerdy), not observing similar elevation from the tibial tuberosity in the direction of the medial condyle. This elevation is used as a reference for palpation during knee evaluation. Based on the evidence presented, we consider that this elevation should be considered in TA as one more characteristic of the tibia, based on its linear and elevated disposition, in addition to its oblique direction from the tibial tuberosity to the anterolateral tubercle of the tibia, for what we propose to call it the Crista anterolateralis tibiae (anterolateral crest of the tibia).

Tumor de células gigantes del fémur / Tumor of giant cells of the femur

El tumor de células gigantes de hueso es un tumor raro de características benignas con un comportamiento agresivo localmente. Predomina en mujeres y por lo general se presenta en la epífisis y metáfisis de los huesos largos. El propósito de este estudio es presentar el caso de un paciente con una lesión tumoral de rodilla y muslo izquierdos de 2 años de evolución y señalar las características diagnósticas de este tumor al mismo tiempo que se revisan los métodos imagenológicos recientes para su confirmación. Se presenta a un paciente masculino de 19 años de edad, que comenzó con dolor, aumento de volumen de la rodilla y muslo izquierdos, acompañado de impotencia funcional. Se reportaron los hallazgos clínicos, radiográficos e histológicos. Debido a la demora entre el inicio de los síntomas y el diagnóstico se practicó el tratamiento quirúrgico del miembro afectado (amputación). Tras 10 meses de observación no se han presentado recidivas o metástasis. Se envió al Servicio de Oncología para valorar e tratamiento con radioterapia. El tumor de células gigantes del hueso es un tumor raro, de buen pronóstico, pero que puede recidivar y causar metástasis cuando se maligniza. Por la posibilidad de transformación en sarcoma requiere estudio y observación periódica. El tiempo para realizar el diagnóstico es fundamental y debe pensarse en este tumor en caso de lesiones líticas de hueso reportadas por imagenología(AU)

The giant cell tumor of bone is a rare benign tumor with a locally aggressive behavior. It predominates in women and usually occurs in the epiphysis and metaphysis of long bones. To present a patient with a tumor lesion left knee and thigh two years of evolution, also noted the diagnostic characteristics of this tumor while recent imaging methods are reviewed for confirmation. 19-year-old male who began with pain, increased volume of the knee and left thigh, accompanied by functional impotensia. clinical, radiological and histological findings were reported. Because of the delay between the onset of symptoms and diagnosis surgical treatment of the affected limb (amputation) was performed. After ten months of observation there have been no recurrences or metastases. The giant cell tumor of bone is a rare tumor with good prognosis but can recur and metastasize when it becomes malignant. The possibility of transformation in sarcoma requires periodic study and observation. The time for diagnosis is essential and should think of this tumor in case of lytic bone lesions reported by imaging(AU)

Correção de fratura Salter-Harris tipo I em porquinho-da-índia (Cavia porcellus) - relato de caso / [Correction of Salter-Harris type 1 fracture in guinea pig (Cavia porcellus) - case report]

Um filhote de porquinho-da-índia (Cavia porcellus) foi recebido para atendimento após histórico de ataque por cão. Na avaliação física, observou-se edema, dor e crepitação em membro pélvico direito, sugestivo de fratura. Na avaliação radiográfica, confirmou-se fratura Salter-Harris tipo I em epífise distal da tíbia. A resolução cirúrgica escolhida foi a associação de pino transarticular e coaptação externa com tala de Altman. O paciente teve acompanhamento radiográfico semanal e obteve alta médica no 35o dia de pós-cirúrgico, quando se observou consolidação com completo remodelamento ósseo.(AU)

A guinea pig (Cavia porcellus) cub presented edema, pain, and crepitus in the right pelvic limb after being attacked by a dog. Radiographic examination revealed Salter-Harris type 1 fracture on the distal region of the tibia. The surgery technique to correct the fracture involved an association of transarticular pinning and external coaptation with Altman splint. After surgery, radiographs of the patient were performed weekly and on the 35th post-surgery day, the bone was completely remodeled and healed, and the animal was dismissed.(AU)

Epifisiólisis femoral proximal, una entidad desapercibida en atención primaria / Proximal Femoral Epiphysiolysis, an Unnoticed Entity in the Primary Care / Epifisiólise próxima! do fémur: uma entidade desapercebida em atenção primária

Resumen: La epifisiólisis femoral proximal o deslizamiento capital femoral es un trastorno de la cadera que se caracteriza por un desplazamiento de la epífisis sobre la metáfisis a través de la fisis (cartílago de crecimiento), quedando la epífisis posterior e inferior. Es una entidad relativamente frecuente en atención primaria y prehospitalaria que genera dolor y limitación de cadera; sin embargo, por su sintomatología vaga es usualmente infradiagnosticada o es diagnosticada tardíamente generando consecuencias a largo plazo. Si se tienen en cuenta los factores de riesgo asociados a una adecuada exploración física y el uso imágenes diagnósticas se lograría hacer un diagnóstico oportuno y una disminución de la tasa de complicaciones.

Abstract: Proximal femoral epiphysiolysis or slipped capital femoral is a hip disorder characterized by a displacement of the epiphysis over the metaphysis through the physis (growth plate), leaving the epiphysis in a posterior and inferior position. It is a relatively frequent entity in primary and prehospital care that generates hip pain and limitation. However, due to its vague symptoms, it is usually underdiagnosed or diagnosed late, generating long-term consequences. If the risk factors associated to an adequate physical examination and the use of diagnostic images are taken into account, a timely diagnosis and a reduction in the rate of complications would be achieved.

Resumo: A epifisiólise proximal do fêmur ou escorregamento epifisário proximal do fêmur é um transtorno do quadril que é caracterizado por um deslocamento da epífise sobre a metáfise por meio da fise (placa de crescimento), ficando a epífise posterior e inferior. É uma entidade relativamente frequente em atenção primária e pré-hospitalar que gera dor e limitação do quadril; contudo, por sua sintomatologia vaga, é usualmente subdiagnosticada ou é diagnosticada tardiamente, o que leva a consequências em longo prazo. Se os fatores de risco associados com uma adequada exploração física e com o uso de imagens diagnósticas forem considerados, é possível realizar um diagnóstico oportuno e diminuir a taxa de complicações.

Establishment of Mathematical Models for Skeletal Age Determination of Extremitas Sternalis of Clavicle in Shanxi Adolescents / 法医学杂志

Objective To develop mathematical models for skeletal age determination with multiple statistic method based on the correlation between age and the growth of the epiphysis of extremitas sternalis of clavicle in Shanxi adolescents. Methods The 562 Shanxi sternoclavicular joint samples （454 cases of modelling, 108 cases of external verification） were scanned by the thin-section computed tomography. After volume rendering was obtained, indicators such as area of epiphysis, area of metaphysis, longest diameter of epiphysis and longest diameter of metaphysis of both extremitas sternalis of clavicle were collected. Indicators such as the ratio of area of epiphysis to area of metaphysis, and the ratio of longest diameter of epiphysis to longest diameter of metaphysis of both sides were calculated. Then multiple linear regression and random forest discriminant models were used to build mathematical models for age determination of adolescents. Results The obtained indicators exhibited a strong correlation with age （r>0.85）. The multiple linear regression model for males and females （all 4 indicators entering the model） based on the ratio of longest diameter of epiphysis to longest diameter of metaphysis and the ratio of area of epiphysis to area of metaphysis had an internal validation accuracy rate （±1.0 year） of over 92% and 108 cases had an external validation accuracy rate of over 70% （±1.0 year）. The out of bag error rates of random forest discriminant models were less than 2% for people over 18.0 years old （≥18.0 years old） and under 18.0 years old. The external validation accuracy rates of the 108 cases were over 80%. Conclusion The regression and discriminant models established in this study have certain reliability and accuracy and can be used in age determination of Shanxi adolescents.

Biomechanical Analysis of Two Types of Humerus Supracondylar Fracture Fixation in Anatomical Model / Análise biomecânica de dois tipos de fixação de fratura supracondiliana de úmero em modelo anatômico

Abstract Objective To analyze the stability of humerus supracondylar fracture fixation with Kirschner wires comparing intramedullary and lateral (Fi), and two parallel lateral wires (FL) fixation in experimental models, to define which configuration presents greater stability. Methods A total of 72 synthetic humeri were cross-sectioned to simulate the fracture. These bones were divided into two equal groups and the fractures were fixed with parallel Kirschner wires (FL) and with a lateral and intramedullary (Fi) wire. Then, the test specimens were subjected to stress load tests on a universal test machine, measured in Newtons (N). Each group was subdivided into varus load, valgus, extension, flexion, external rotation and internal rotation. An analysis of the data was performed comparing the subgroups of the FL group with their respective subgroups of the Fi group through the two-tailed t test. Results The two-tailed t test showed that in 4 of the 6 evaluated conditions there was no significant statistical difference between the groups (p > 0.05). We have found a significant difference between the group with extension load with a mean of 19 N (FL group) and of 28.7 N (Fi group) (p = 0.004), and also between the groups with flexural load with themean of the forces recorded in the FL group of 17.1 N and of 22.9 N in the Fi group (p = 0.01). Conclusion Fixation with one intramedullary wire and one lateral wire, considering loads in extension and flexion, presents greater stability when compared to a fixation with two lateral wires, suggesting similar clinical results.

Resumo Objetivo Analisar através de ensaios mecânicos a estabilidade da fixação da fratura supracondiliana do úmero com dois fios de Kirschner, intramedular e lateral (Fi), comparada à fixação com dois fios laterais paralelos (FL) em modelos anatômicos, de forma a se definir qual configuração apresenta maior estabilidade. Métodos Foram utilizados como corpos de prova 72 úmeros sintéticos, os quais foram seccionados transversalmente para simular a fratura. Estes ossos foram divididos em dois grupos iguais e as fraturas fixadas com dois fios de Kirschner paralelos (FL) e com um fio lateral e outro intramedular (Fi). Então os corpos de prova foram submetidos aos testes de carga em estresse em uma máquina de ensaio universal, medidos em Newtons (N). Cada grupo foi subdividido em carga em varo, em valgo, em extensão, em flexão, em rotação externa e em rotação interna. A análise dos dados foi realizada comparando os subgrupos do grupo FL, com seus respectivos subgrupos do grupo Fi através do teste t bicaudal. Resultados O teste t bicaudal demonstrou que em 4 das 6 condições aplicadas não houve diferença estatística significativa entre os grupos (p > 0,05). Encontramos uma diferença significativa entre os grupos com carga em extensão com uma média das maiores forças no grupo FL de 19 N e no grupo Fi de 28,7 N (p = 0,004), e também entre os grupos comcarga emflexão coma média de forças registradas no grupo FL de 17,1 N e no grupo Fi de 22,9 N (p = 0,01). Conclusão A fixação com fio intramedular e umfio lateral para cargas em extensão e flexão apresenta maior estabilidade quando comparada com a fixação com dois fios laterais paralelos, sugerindo resultados clínicos no mínimo semelhantes.

Chondroblastoma of the Talus Mimicking an Aneurysmal Bone Cyst: A Case Report / 대한족부족관절학회지

Chondroblastoma is a rare benign tumor that produces giant cells and cartilage matrix. The tumor occurs in people between 10 and 25 years with slightly higher incidence in males. The condition occurs in the proximal epiphysis of the tibia and humerus, distal epiphysis of the femur, but its occurrence in the talus is relatively rare, accounting for 4% of the total number of chondroblastoma cases. Chondroblastoma is often misdiagnosed as a primary aneurysmal bone cyst, giant cell tumor, chondromyxoid, and lesion of a secondary aneurysmal bone cyst by fibrous dysplasia. The most commonly used surgical method for chondroblastoma is broad curettage with bone grafting. In general, an aneurysmal bone cyst is associated with a second degree chondroblastoma, which is approximately 20%. Chondroblastoma of the talus and secondary aneurysmal bone cysts can be misdiagnosed as primary aneurysmal bone cysts. This paper reports a case of a young male patient with chondroblastoma of the talus, which was initially misdiagnosed as an aneurysmal bone cyst with involvement of the talo-navicular joint.

Evaluation of Local Recurrence in Giant-Cell Tumor of Bone Treated by Neoadjuvant Denosumab

BACKGROUND: Giant-cell tumor of bone (GCTB) is a locally aggressive primary benign tumor presenting as an expansile osteolytic lesion affecting the epiphysis of long bones. Denosumab halts the osteolysis by giant cells thereby downstaging the tumor, helping in performing less morbid procedures to remove the tumor. Our aim was to report the incidence of local recurrence (LR) in patients operated following neoadjuvant denosumab, to investigate factors associated with LR following extended curettage for GCTB, and to compare the postoperative functional and oncological outcome of patients operated with and without neoadjuvant denosumab. METHODS: A total of 123 patients with a mean age of 29.6 years undergoing extended curettage for GCTB were retrospectively divided into group 1 receiving neoadjuvant denosumab and group 2 operated without denosumab. The mean follow-up period was 35 months. The perioperative characteristics and outcome were compared between the two groups and the factors for LR of GCTB were analyzed. RESULTS: The incidence of LR among patients operated after neoadjuvant denosumab therapy was 42.8% and was significantly high compared to that in patients without denosumab (p < 0.001). On multivariate logistic regression analysis, use of denosumab as a neoadjuvant was the only factor independently associated with LR following surgery (p = 0.002). Patients treated with denosumab had a lower LR-free survival rate (log-rank, p = 0.018). CONCLUSIONS: Denosumab was independently associated with increased LR following surgery for GCTB. Denosumab has to be used cautiously in patients in whom the burden of downstaging the disease outweighs the possible chance of LR.

A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review / 中国当代儿科杂志

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G>A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.

Total Hip Arthroplasty in Patients with Avascular Necrosis of the Entire Femur / 대한정형외과학회잡지

Avascular necrosis (AVN) is defined as the cellular death of bone and bone marrow components due to the loss of blood supply, and associated with post-traumatic or non-traumatic events. AVN usually involves the epiphysis of a long bone, such as the femoral and humeral heads, which are susceptible to osteonecrosis. Many studies have been conducted but they were restricted to investigations of femoral head avascular necrosis. The presence of osteonecrosis in the proximal femur may impair biological fixation after total hip arthroplasty. We report a 56-year-old male patient with avascular necrosis located not only at the femoral head, but also in the entire femur, including the medullary cavity, who underwent total hip arthroplasty 2 years earlier along with a review of the relevant literature.

Análisis de la displasia epifisaria hemimélica (enfermedad de Trevor) de tobillo / Analysis of dysplasia epiphysealis hemimelica (Trevor's disease) of the ankle

La displasia epifisaria hemimélica o enfermedad de Trevor es una deformidad osteocartilaginosa en la región epifisaria. Es poco frecuente y predomina en el sexo masculino. Se desarrolla en la infancia cuando los cartílagos de crecimiento están abiertos, y afecta principalmente el tobillo y la rodilla. Su origen es desconocido. Se presentan tres casos con distinto grado de compromiso y las alternativas terapéuticas. Un solo caso quirúrgico por equino irreductible. Se detallan la técnica quirúrgica, el manejo posoperatorio y el resultado de anatomía patológica. Se recomienda operar sólo a pacientes con alguna limitación funcional o severa deformidades por el alto índice de recidiva. Nivel de Evidencia: IV

Dysplasia epiphysealis hemimelica or Trevor's disease is an osteocartilaginous deformity in the epiphyseal region. It is an uncommon entity, and predominates in the male sex. It develops during childhood, when growth cartilages are open, and mainly affects the ankle and knee. Its origin is unknown. Three cases with different degree of involvement and therapeutic alternatives are presented. Only one surgical case due to irreductible equinovarus. Surgical technique, postoperative management and result of pathological anatomy are explained. We recommend surgery only for patients with some functional limitation or severe deformities due to its high rate of relapse. Level of Evidence: IV

Fusion of the medial clavicular epiphysis in the South African and Kenyan populations / Fusión de la epífisis clavicular medial en las poblaciones de Sudáfrica y Kenia

Age estimation from clavicular ossification has been studied by many researchers based on the pattern and degree of the epiphyseal union through the use of dry bone specimens, radiographs, CT and MRI. These studies found clavicular ossification as a useful age indicator up to the third decade of life. The study aimed to document any population specific influence on age estimation using fusion processes of the clavicular epiphysis between the South African and Kenyan population groups. To achieve this objective a study of one thousand six hundred and five (n=1605) digital radiographs of South African and Kenyan population groups, aged between 14-30 years, were evaluated. The ossification process of the medial clavicular epiphysis was scored against Schmeling's staging system. Growth variations between the two cohorts were carried out using student t-test analysis to assess for any significant differences between the means and standard deviations of the cohorts. A log linear regression test was also applied to test bilateral asymmetry in the ossification status for the medial epiphysis. The results of the paired linear model indicated a wide gap between chronological age (CA) and estimated age (EA) in patients under 20 years. The regression tests observed no significant difference between the EA of the South African and Kenyan populations. The current study yielded no significant differences in the ossification process of the medial clavicle amongst the Black South African and Kenyan populations when using Schmeling's staging system.

La estimación de la edad a partir de la osificación clavicular ha sido estudiada por muchos investigadores según el patrón y el grado de unión epifisaria mediante el uso de muestras de hueso seco, radiografías, tomografía computarizada y resonancia magnética. Estos estudios encontraron la osificación clavicular como un indicador de edad útil hasta la tercera década de la vida. El estudio tuvo como objetivo documentar cualquier influencia específica de la población en la estimación de la edad utilizando los procesos de fusión de la epífisis clavicular entre los grupos de población de Sudáfrica y Kenia. Para lograr este objetivo, se evaluó un estudio de mil seiscientas cinco (n = 1605) radiografías digitales de grupos de la población de Sudáfrica y Kenia, con edades comprendidas entre 14 y 30 años. El proceso de osificación de la epífisis clavicular medial se puntuó frente al sistema de estadificación de Schmeling. Las variaciones de crecimiento entre las dos cohortes se llevaron a cabo utilizando la prueba t de Student para evaluar las diferencias significativas entre las medias y las desviaciones estándar de las cohortes. También se aplicó una prueba de regresión lineal para evaluar la asimetría bilateral en el estado de osificación de la epífisis medial. Los resultados del modelo lineal indicaron una gran brecha entre la edad cronológica (CA) y la edad estimada (EA) en pacientes menores de 20 años. En las pruebas de regresión no se observaron diferencias significativas entre la EA de las poblaciones de Sudáfrica y Kenia. El presente estudio no presentó diferencias significativas en el proceso de osificación epífisis medial de la clavícula entre las poblaciones negras de Sudáfrica y Kenia cuando se usó el sistema de estadificación de Schmeling et al.

Analysis on Injury Manners of 31 Cases of Bennett Fracture and Rolando Fracture / 法医学杂志

OBJECTIVES@#To study the injury manners of Bennett fracture and Rolando fracture and explore its identification principle of the first metacarpal base fractures.@*METHODS@#Totally 31 cases of Bennett fracture and Rolando fracture were collected. The injury manners of cases of 19 Bennett fractures and 12 Rolando fracture were classified, and various injury manners were analysed statistically.@*RESULTS@#The injury manners of the cases of 19 Bennett fracture and 12 Rolando fracture were divided into three types, including the first metacarpus hit hard objects during a punching, the first metacarpus hit hard objects when making fists and fell, or the first metacarpus was punched by hard objects when making fists.@*CONCLUSIONS@#The injury mechanism of Bennett fracture and Rolando fracture is formed by a force on the first metacarpus when making fists, which transmits to the basilar part along the vertical axis of metacarpus. The inference of injury manners should be focused on the confirmation of entrusted matters.

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Unsintered Hydroxyapatite and Poly-L-Lactide Composite Screws/Plates for Stabilizing β-Tricalcium Phosphate Bone Implants

Unsintered hydroxyapatite (u-HA) and poly-L-lactide (PLLA) composites (u-HA/PLLA) are osteoconductive and biodegradable. Screw (Super-Fixsorb MX30) and plate (Super-Fixsorb MX40 Mesh) systems made of u-HA/PLLA are typically used in small bones in maxillofacial surgeries. After the resection of bone tumors in larger bones, reconstructions with β-tricalcium phosphate (β-TCP) implants of strong compression resistance have been reported. After a resection, when the cavity is hemispheric- or concave-shaped, stabilization of the implanted β-TCP block is necessary. In the current series, u-HA/PLLA were used to stabilize the mechanically strong implanted low-porous β-TCP blocks in six bone tumor cases, including three giant cell tumors of bone, and one case each of chondroblastoma, chondrosarcoma, and parosteal osteosarcoma. The mean age of patients at the time of surgery was 31.3 years (range, 19 to 48 years). The bones involved were two ilia (posterior), a femur (diaphysis to distal metaphysis), and three tibias (proximal epiphysis, proximal metaphysis to epiphysis, and distal metaphysis to epiphysis). Neither displacement of the implanted β-TCP block nor any u-HA/PLLA-related complications were observed. The radiolucent character of the u-HA/PLLA did not hinder radiological examinations for potential signs of tumor recurrence. The method of using u-HA/PLLA components for the stabilization of β-TCP blocks makes the procedure easy to perform and reliable. It can extend the application of β-TCP blocks in reconstruction surgery.

Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene / 대한피부과학회지

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this condition sharing similar clinical features including sparse hair, a bulbous nose, an elongated philtrum, short stature, and shortened phalanges. A 10-year-old girl presented with sparse hair and thin hair shafts since birth. She also showed a bulbous nose, an elongated philtrum, brachydactyly of the great toes, and a short stature. Radiological examination showed cone-shaped epiphyses and shortened phalanges. Genetic analysis revealed a novel missense mutation c.2759G>C (p.Trp920Ser) in the TRPS1 gene. We diagnosed this patient with TRPS type III. To our knowledge, only 3 reports have described a genetically analyzed TRPS1 gene mutation among the 11 reported cases of TRPS in the Korean literature. Furthermore, we identified a novel missense mutation in the TRPS1 gene.

The comparison of two different intraarticular injections using a sonographic anterolateral approach in patients with osteoarthritic knee

BACKGROUND: The intraarticular (IA) injection has become popular for the management of the osteoarthritic knee without an effusion. The success rate of IA injection would be better if it was able to be visually confirmed. We hypothesized that an anterolateral approach, which targets the synovial membrane of the lateral condyle using ultrasound, would provide an equivalent alternative to the anterolateral approach, targeting the synovial membrane of the medial condyle for IA injection of the knee. METHODS: A total of 96 knees with osteoarthritis were randomized placed into the two groups, which were group I (anterolateral approach to the medial condyle) and group II (anterolateral approach to the lateral condyle). The primary outcome was to compare the success rate of the two methods of IA injection. The required length of the needle for injection was also measured and compared. Pain intensity was assessed using the Numeric Rating Scale in order to evaluate the success of injection. RESULTS: There were no significant differences in the success rate between both groups. The success rate of group I and group II were 87.8% (95%, CI 78.7–97.0) and 91.5% (95%, CI 83.6–99.5), respectively (P = 0.549). The needle depth was 5.0 ± 0.8 (3.0 to 6.1 cm) in group I, and 3.0 ± 0.8 (1.5 to 5 cm) in group II (P < 0.001). CONCLUSIONS: The anterolateral approach to the lateral femoral condyle, using ultrasound, is an alternative method to the approach targeting the medial femoral condyle, using shorter needle.

The First Report on Clinical Manifestation of Cryopyrin-Associated Periodic Syndrome in Korean Children

PURPOSE: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. METHODS: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. RESULTS: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). CONCLUSIONS: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.