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1.
Rev. cuba. reumatol ; 23(1): e776, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1280405

ABSTRACT

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)


Subject(s)
Male , Young Adult , Thigh/injuries , Wounds and Injuries , Giant Cell Tumor of Bone/complications , Early Diagnosis , Epiphyses/injuries , Femur/diagnostic imaging , Neoplasm Metastasis/prevention & control , Giant Cell Tumor of Bone/diagnostic imaging , Amputation
2.
Arq. bras. med. vet. zootec. (Online) ; 72(6): 2233-2238, Nov.-Dec. 2020. tab, ilus
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1142293

ABSTRACT

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)


Subject(s)
Animals , Rodentia/injuries , Bone Nails/veterinary , Fracture Fixation, Intramedullary/veterinary , Tibial Fractures/veterinary , Epiphyses/injuries
3.
Rev. MED ; 28(1): 69-75, ene.-jun. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1143833

ABSTRACT

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.


Subject(s)
Humans , Slipped Capital Femoral Epiphyses , Primary Health Care , Epiphyses , Delayed Diagnosis
4.
Rev. bras. ortop ; 54(3): 261-267, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1013734

ABSTRACT

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.


Subject(s)
Biomechanical Phenomena , Epiphyses/injuries , Fracture Fixation , Humeral Fractures
5.
Article in Korean | WPRIM | ID: wpr-770055

ABSTRACT

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.


Subject(s)
Arthroplasty, Replacement, Hip , Bone Marrow , Epiphyses , Femur , Head , Humans , Humeral Head , Male , Middle Aged , Necrosis , Osteonecrosis
6.
Article in Chinese | WPRIM | ID: wpr-774106

ABSTRACT

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.


Subject(s)
Diabetes Mellitus, Type 1 , Epiphyses , Congenital Abnormalities , Female , Humans , Infant , Mutation , Osteochondrodysplasias , eIF-2 Kinase
7.
Article in Korean | WPRIM | ID: wpr-738418

ABSTRACT

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.


Subject(s)
Aneurysm , Bone Cysts , Bone Cysts, Aneurysmal , Bone Transplantation , Cartilage , Chondroblastoma , Curettage , Epiphyses , Femur , Giant Cell Tumors , Giant Cells , Humans , Humerus , Incidence , Joints , Male , Methods , Talus , Tibia
8.
Article in English | WPRIM | ID: wpr-763578

ABSTRACT

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.


Subject(s)
Curettage , Denosumab , Epiphyses , Follow-Up Studies , Giant Cell Tumors , Giant Cells , Humans , Incidence , Logistic Models , Osteolysis , Recurrence , Retrospective Studies , Survival Rate
9.
Rev. Asoc. Argent. Ortop. Traumatol ; 83(4): 291-297, dic. 2018. []
Article in Spanish | LILACS, BINACIS | ID: biblio-984996

ABSTRACT

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


Subject(s)
Child , Adolescent , Adult , Osteochondrodysplasias , Bone Diseases, Developmental , Epiphyses/pathology , Ankle Joint/pathology
10.
Int. j. morphol ; 36(3): 1101-1107, Sept. 2018. tab, graf
Article in English | LILACS | ID: biblio-954237

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Age Determination by Skeleton/methods , Clavicle/anatomy & histology , Epiphyses/anatomy & histology , Osteogenesis , South Africa , Sex Factors , Kenya
11.
Article in English | WPRIM | ID: wpr-715554

ABSTRACT

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.


Subject(s)
Bone Neoplasms , Chondroblastoma , Chondrosarcoma , Durapatite , Epiphyses , Femur , Giant Cell Tumors , Humans , Hydroxyapatites , Methods , Osteosarcoma , Reconstructive Surgical Procedures , Recurrence , Tibia
12.
The Korean Journal of Pain ; : 289-295, 2018.
Article in English | WPRIM | ID: wpr-742196

ABSTRACT

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.


Subject(s)
Epiphyses , Humans , Injections, Intra-Articular , Knee Joint , Knee , Methods , Needles , Osteoarthritis , Synovial Membrane , Ultrasonography
13.
Article in English | WPRIM | ID: wpr-741866

ABSTRACT

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.


Subject(s)
Arthralgia , Atrophy , Blood Sedimentation , Bone Diseases, Metabolic , Brain , C-Reactive Protein , Cartilage , Child , Chorioretinitis , Conjunctivitis , Cryopyrin-Associated Periodic Syndromes , Diagnosis , Edema , Epiphyses , Exanthema , Exons , Femur , Fever , Hearing Loss , Humans , Intellectual Disability , Interleukin 1 Receptor Antagonist Protein , Joints , Korea , Magnetic Resonance Imaging , Myalgia , Parturition , Patella , Uveitis
14.
Article in English | WPRIM | ID: wpr-719106

ABSTRACT

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.


Subject(s)
Brachydactyly , Databases, Genetic , Diagnosis , Epiphyses , Exons , Fatigue , Femur , Frameshift Mutation , Hair , Hip Joint , Humans , Male , Metacarpal Bones , Metatarsal Bones , Nose , Phenotype , Wills , Young Adult
15.
Article in Korean | WPRIM | ID: wpr-717027

ABSTRACT

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.


Subject(s)
Brachydactyly , Child , Epiphyses , Female , Genetic Diseases, Inborn , Hair , Humans , Lip , Mutation, Missense , Nose , Parturition , Toes
16.
Int. j. morphol ; 35(3): 919-924, Sept. 2017. ilus
Article in Spanish | LILACS | ID: biblio-893074

ABSTRACT

Múltiples palabras habituales utilizan raíces grecolatinas, como el caso de las estructuras mencionadas en Terminologia Anatomica. Un grupo de términos anatómicos originados en la Antigua Grecia emplean el lexema griego phy-sis o su homólogo ­fisis en español, es por ello que este trabajo tiene por objetivo analizar su significado y etimología en el diccionario de la Universidad de Salamanca, Diccionario de Términos Médicos de la Real Academia Nacional de Medicina y en el Diccionario Etimológico griego-latín del español, para contribuir a la comprensión y aprendizaje de Terminologia Anatomica en el estudio de la Anatomía Humana. Se propone que los estudiantes que cursan la asignatura de Anatomía Humana posean conocimientos básicos de latín y griego, para facilitar su aprendizaje y correcta aplicación de los términos.


Multiple common words use Greek and Latin roots, as is the case of structures mentioned in Terminologia Anatomica. For instance, a number of anatomical terms originating in ancient Greece, use the Greek lexeme ph-sis or its homologue -fisis in Spanish. Therefore, this work aims to analyze meaning and etymology of this term in the Universidad de Salamanca dictionary, the Royal National Academy of Medicine Dictionary of Medical Terms, and in the Spanish etymological Greek-Latin dictionary, to contribute to the understanding and learning of Terminologia Anatomica in the study of Human Anatomy. To facilitate learning and the correct use of Terminologia Anatomica, we propose that students in Human Anatomy course assignments acquire a basic knowledge of Latin and Greek.


Subject(s)
Humans , Anatomy/standards , Diaphyses/anatomy & histology , Epiphyses/anatomy & histology , Terminology as Topic
17.
Rev. bras. ortop ; 52(1): 87-94, Jan.-Feb. 2017. tab, graf
Article in English | LILACS | ID: biblio-844097

ABSTRACT

ABSTRACT OBJECTIVE: This study aimed to evaluate the clinical and radiographic outcomes, as well as the complications of arthroscopic subcapital realignment osteotomy in chronic and stable slipped capital femoral epiphysis (SCFE). As indicated by the literature review, this is the first time this type of arthroscopic osteotomy was described. METHODS: Between June 2012 and December 2014, seven patients were submitted to arthroscopic subcapital realignment osteotomy in chronic and stable SCFE. The mean age was 11 years and 4 months, and the mean follow-up period was 16.5 months (6-36). Clinical results were evaluated using the Modified Harris Hip Score (MHHS), which was measured pre- and postoperatively. Radiographs were evaluated using the Southwick quantitative classification and the epiphysis-diaphysis angle (pre- and postoperatively). Complications were assessed. RESULTS: The mean preoperative MHHS was 35.8 points, and 97.5 points post-operatively (p < 0.05). Radiographically, five patients were classified as Southwick classification grade II and two as grade III. The mean correction of the epiphysis-diaphysis angle was 40°. No immediate postoperatively complications were observed. One patient presented femoral head avascular necrosis, without collapse or chondrolysis at the most recent follow-up (22 months). CONCLUSION: The arthroscopic technique presented for subcapital realignment osteotomy in chronic and stable SCFE showed satisfactory clinical and radiographic outcomes in a 16.5 months follow-up period.


RESUMO OBJETIVO: Avaliar os resultados clínicos e radiográficos, bem como as complicações da osteotomia de realinhamento subcapital por via artroscópica para tratamento da epifisiólise proximal do fêmur (EPF) crônica e estável, relativos a uma série inicial de pacientes. Conforme análise da literatura, o estudo apresenta a primeira descrição de técnica artroscópica desse tipo de osteotomia. MÉTODOS: Entre junho de 2012 a dezembro de 2014, sete pacientes foram submetidos à osteotomia de realinhamento subcapital por via artroscópica para tratamento da EPF crônica e estável. A idade média dos pacientes foi de 11 anos e quatro meses. O seguimento mínimo foi de seis a 36 meses (média de 16,5 meses). Os pacientes foram avaliados clinicamente de acordo com o Harris Hip Score modificado por Byrd e radiograficamente conforme a classificação quantitativa de Southwick e o ângulo epifisio-diafisário. Complicações pós-operatórias foram analisadas. RESULTADOS: Com relação à avaliação do escore clínico Harris Hip Score Modificado por Byrd, observou-se média pré-operatória de 35,8 pontos e pós-operatória de 97,5 pontos (p < 0,05). Radiograficamente, cinco pacientes foram classificados como grau II e dois como grau III de Southwick. Observou-se correção média do ângulo epifisio-diafisário de 40o. Não houve complicações pós-operatórias imediatas. Um paciente evoluiu com necrose avascular da cabeça femoral, sem colapso ou condrólise no último seguimento (22 meses) . CONCLUSÃO: A técnica artroscópica apresentada pelos autores para tratamento da EPF crônica e estável resultou em melhoria clínica e radiográfica dos pacientes nesta série inicial.


Subject(s)
Humans , Male , Female , Child , Arthroscopy , Epiphyses , Epiphyses, Slipped , Femur Head , Hip
18.
Arch. argent. pediatr ; 115(1): e1-e4, feb. 2017. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-838319

ABSTRACT

Se describe una patología de aparición poco frecuente y esporádica que se caracteriza por deformidad en cuello de cisne en las manos, artrosis de cadera en la adultez, retardo en la edad ósea y malformaciones de las falanges medias, en forma de ángel. El paciente es un niño de 4 años de edad que sufrió un traumatismo de mano, por lo cual se le realizó una radiografía donde se observaron falanges con forma de ángel. A partir de este hallazgo, se obtuvieron otras radiografías y se diagnosticó una displasia epifisaria con falanges en forma de ángel. A raíz de este diagnóstico en el niño y de consultas con el Servicio de Genética, se diagnosticó el mismo síndrome en la madre.


We describe a rare and sporadic condition, characterized by swan neck deformity in hands, hip osteoarthritis in adulthood and malformations of the middle phalanges with an angel shape. The patient is a 4 year old boy who suffered hand trauma and on x-ray examination he was diagnosed with angel-shaped phalango-epiphyseal dysplasia. Based on this diagnosis, his mother, who suffered from constant pain in her hips and lower limbs, was diagnosed with this syndrome as well.


Subject(s)
Humans , Male , Child, Preschool , Bone Diseases, Developmental/diagnostic imaging , Epiphyses/diagnostic imaging
19.
Article in English | WPRIM | ID: wpr-119931

ABSTRACT

Thiemann's disease is a form of idiopathic avascular necrosis of the immature epiphyses of the phalanges of the fingers and toes. Few cases of Thiemann's disease have been reported because the disease is rare and difficult to diagnose. To the best of our knowledge, magnetic resonance imaging (MRI) findings of Thiemann's disease have not been reported. Here, we report a case of Thiemann's disease diagnosed by typical clinical symptoms and characteristic MRI findings before radiologic bony abnormalities were apparent.


Subject(s)
Epiphyses , Fingers , Magnetic Resonance Imaging , Necrosis , Toes
20.
Article in English | WPRIM | ID: wpr-115256

ABSTRACT

BACKGROUND: Using a too big or a too small size of an endotracheal tube in pediatric patients would result in tracheal injury or insufficient ventilation. Determining the appropriate endotracheal tube size is important because using an inappropriate size can cause complications. This study was performed to predict the appropriate endotracheal tube size by measuring the transverse diameter of the epiphysis of the distal radius under the assumption that the growth rates of cartilages in the entire body are close to each other. METHODS: Fifty-eight children aged 3 to 10 years who required general anesthesia were intubated with an uncuffed endotracheal tube. The tube size was considered to be appropriate when leaks occurred at inspiratory peak pressures between 10 to 25 mmHg. The transverse diameters of the epiphysis were measured with an ultra-sonogram at the distal radius and the proximal phalanx of the third finger and the fifth finger. Correlations and prediction probabilities of measurements were evaluated. The number needed to harm (NNH), which indicates the number of patients who need to be intubated for one patient who needs tube exchange, was investigated. RESULTS: The Spearman's correlation coefficient between the endotracheal tube size and the epiphysis of the distal radius was 0.814, which was the biggest coefficient. For epiphysis of the proximal phalanx of the third finger and the fifth finger, the correlation coefficient was 0.704 and 0.701, respectively. If the Cole's formula was applied for selection of the tube size, the NNH would be 7. CONCLUSIONS: The appropriate endotracheal tube size could be predicted by means of the epiphyseal transverse diameter of the distal radius rather than the circumference measurements of the phalanx.


Subject(s)
Anesthesia, General , Cartilage , Child , Epiphyses , Fingers , Humans , Intubation, Intratracheal , Pediatrics , Radius , Ultrasonography , Ventilation
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