Displasia esquelética / Skeletal displasia

Las displasias músculo-esqueléticas o también conocidas como osteocondrodisplasias o displasias esqueléticas, constituyen un grupo heterogéneo de trastornos que afectan el crecimiento, la morfología y el desarrollo de ese sistema. El diagnóstico prenatal de una displasia esquelética específica es difícil y la Osteogénesis imperfecta tipo II es una de ellas. El objetivo del trabajo es resaltar la importancia del diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto, por ultrasonografía, en la atención primaria de salud. Presentamos las imágenes ecográficas de un feto afectado por una displasia esquelética a las 18 semanas. Previo asesoramiento genético y dado el mal pronóstico con que cursan estos casos de displasias esqueléticas letales, la paciente decidió la terminación del embarazo. El diagnóstico de displasia esquelética fue confirmado por Anatomía Patológica e Imagenología(AU)

Skeletal dysplasias, also known as osteochondrodysplasias, refer to a group of disorders described by abnormalities in the development, growth, and maintenance of both bone and cartilage. The prenatal diagnosis of skeletal dysplasia is very difficult and the lethal osteogenesis imperfect type II is the only one that can be consistently detected in utero. To highlight the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. We present the sonographic images of a fetus affected by skeletal dysplasia at 18 weeks. After genetic counseling and given the poor prognosis with cases of skeletal lethal dysplasias, the patient decided to terminate the pregnancy. The diagnosis of skeletal dysplasia was confirmed by Pathology and Imaging(AU)

Tracheobronchopathia osteochondroplastica / Traqueobroncopatia osteocondroplástica

ABSTRACT Tracheobronchopathia osteochondroplastica is a rare benign disease, of unknown cause, characterized by numerous sessile, cartilaginous, or bony submucosal nodules distributed throughout the anterolateral walls, projecting into the laryngotracheobronchial lumen. In general, tracheobronchopathia osteochondroplastica is diagnosed incidentally during bronchoscopy or autopsy and is not associated with a specific disease. We report the case of a male patient who was diagnosed with tracheobronchopathia osteochondroplastica via bronchoscopy and biopsy.

RESUMO A traqueobroncopatia osteocondroplástica é uma doença benigna rara, de causa desconhecida, caracterizada por numerosos nódulos submucosos sésseis, cartilaginosos e/ou ósseos, distribuídos pelas paredes anterolaterais da traqueia, projetando-se no lúmen laringotraqueobrônquico. Em geral, a traqueobroncopatia osteocondroplástica é descoberta acidentalmente durante broncoscopias ou em necropsias e não é associada a uma doença específica. Relatamos o caso de um paciente que foi diagnosticado com traqueobroncopatia osteocondroplástica por broncoscopia e biópsia.

Avaliação do desenvolvimento da discondroplasia tibial em frangos de corte submetidos à dieta com 25 hidroxicolecalciferol / Evaluation of tibial dyschondroplasia development in broiler chickens fed diets containing 25 hydroxicolecalciferol

Este trabalho teve como objetivo avaliar o desenvolvimento da discondroplasia tibial (DT) em frangos de corte de 1 ae fontes de vitamina D (1250UI D3/kg sem 25-(OH)D3; 1250UI D3/kg com 69mg 25-(OH)D3/ton e 3000UI D3/kg com 69mg 25-(OH)D3/ton) e dois tratamentos controles com níveis de cálcio e fósforo com 3000UI D3/kg sem 25-(OH)D3 e 3000UI D3/kg com 69mg 25-(OH)D3/ton de ração. Foram avaliadas características ósseas. No período de 1 a 21 dias, os resultados indicaram que as concentrações de cálcio e fósforo nas tíbias não foram influenciadas pelos tratamentos e que o consumo de ração foi superior para os tratamentos que compõem o fatorial. A resistência óssea também não foi influenciada pelos tratamentos e a análise histológica não evidenciou lesões características de DT. Conclui-se que, nas condições experimentais da presente pesquisa, o desenvolvimento de DT não foi observado.

This research was carried out to evaluate the development of tibial dyschondroplasia (TD) in broilers from 1 to 21 days. Four hundred forty day-old male chickens, from broiler breeders aged 60-62 weeks, were randomly distributed in a 3x3+2 factorial arrangement, resulting in 11 treatments with four replicates of 10 birds each. The factors evaluated were: bird strains (Ross 308, Cobb 500, and Hybro), levels and sources of vitamin D (1250UI D3/kg without 25-(OH)D3; 1250UI D3/kg with 69mg 25-(OH)D3/ton, and 3000UI D3/kg with 69mg 25-(OH)D3/ton), and two control treatments containing calcium and phosphorus levels with 3000UI D3/kg without 25-(OH)D3 and 3000UI D3/kg with 69mg 25- (OH)D3/ton of feed. Bone characteristics were evaluated. From 1 to 21 days, the results showed that bone calcium and phosphorus concentrations were not influenced by the treatments, however, feed intake was higher for factorial than control treatments. Bone breaking resistance was not influenced by the treatments and there were no typical lesions of TD. In conclusion, it was not observed TD development in broilers from 1 to 21 days according to experimental procedures of this research.

Traqueobroncopatia osteocondroplástica: relato de 2 casos e revisão bibliográfica / Osteochondroplastic tracheobronchopathy: report on 02 cases and bibliographic review

A traqueobroncopatia osteocondroplásica (TO) é uma doença benigna rara, de causa desconhecida, caracterizada por numerosos nódulos submucosos sésseis, cartilaginosos e/ou ósseos, distribuídos pelas paredes ântero-laterais, projetando-se no lúmen laringotraqueobrônquico. Existem aproximadamente 400 casos relatados na literatura mundial. OBJETIVOS: Relatar e discutir 2 casos de TO com a revisão bibliográfica. MATERIAL E MÉTODO: Apresentação de 2 casos, com revisão bibliográfica realizada através dos bancos de dados do MEDLINE, LILACS, PUBMED. DESENHO DO ESTUDO: Estudo observacional, descritivo, relato de casos. CONCLUSÃO: Os sintomas são resultados de obstrução da via aérea, causando tosse seca, dispneia e infecções recorrentes do trato respiratório. A suspeita diagnóstica é feita pela endoscopia de vias aéreas (laringotraqueobroncoscopia), sendo a tomografia computadorizada do tórax/traqueia útil para documentar as características de lesões nodulares. O diagnóstico diferencial inclui a papilomatose, amiloidose e sarcoidose endobronquial, condrossarcoma, hamartoma e linfonodos paratraqueais calcificados. Não existe tratamento específico, porém o prognóstico é bom. A remoção cirúrgica é restrita aos quadros obstrutivos moderados e severos. Os otorrinolaringologistas devem estar atentos e incluírem a traqueobroncopatia osteocondroplástica na lista de diagnósticos diferenciais, quando frente aos sintomas sugestivos de doenças da via aérea superior e árvore traqueobrônquica.

Osteochondroplastic tracheobronchopathy (OT) is a rare benign disorder of the lower part of the trachea and the upper part of the main bronchus characterized by numerous submucosal calcified nodules, sessile, cartilaginous and/or osseous with laryngotracheobronchial lumen projection. There are less than 400 cases reported in the word literature. AIM: to report and discuss 02 cases of OT with a bibliography review. MATERIALS AND METHODS: we report on 02 cases with bibliography revision from MEDLINE, LILACS and PUBMED data. STUDY DESIGN: observational, descriptive, case reports. CONCLUSION: the symptoms result from airway obstruction, causing dry cough, dyspnea and recurrent respiratory tract infections. The diagnostic hypothesis is established by endoscopy of the upper airway (laryngo-tracheo-bronchoscopy), and the trachea/chest computed tomography is the best image exam to define tracheal nodule alterations. The differential diagnoses are papillomatosis, amyloidosis and sarcoidosis chondrosarcoma hamartoma and calcified paratracheal lymph nodes. There is no specific treatment and the prognosis is good. Surgery is restricted to moderate or severe airway obstructions. Otorhinolaryngologists must include OT in the differential diagnosis of cases of upper airway and tracheobronchial tree suggestive symptoms.

Opsismodysplasia.

Opsismodysplasia is a rare osteochondrodysplasia with micromelia and platyspondyly. The authors report on a neonate with opsismodysplasia. During the antenatal period, polyhydramnios was noted. This is the first report of opsismodysplasia from India. Significant observation was antenatal polyhydramnios.

Traqueobroncopatia osteocondroplástica em portador de tumor de Klatskin: relato de caso e revisão da literatura / Tracheopathia osteochondroplastica in a patient with Klatskin tumor: a case report and review of the literature

A traqueopatia osteocondroplástica (TO) é uma desordem idiopática, incomum, caracterizada pela presença de nódulos osteocartilaginosos na submucosa das vias aéreas, causando rigidez e estreitamento da árvore respiratória. Afeta principalmente homens acima dos 50 anos com manifestações clínicas devidas à obstrução e/ou a infecções locais. Sua patogênese é desconhecida. Relatamos um caso de TO encontrada acidentalmente em autopsia de mulher com 73 anos de idade, que apresentava carcinoma ductal biliar extra hepático (tumor de Klatskin).

Tracheopathia osteochondroplastica (TO) is an unusual idiopathic disorder, characterized by osteocartilaginous nodules in the submucosa of the respiratory airway, which causes rigidity and narrowing of the respiratory tree. It affects mainly men over 50 and clinical manifestations are due to obstruction and/or local infections. The pathogenesis is uncertain. We report a case of TO found incidentally in an autopsy of a 73 year-old woman, who had an extrahepatic biliary ductal carcinoma (Klatskin tumor).

Metatropic dysplasia in children.

Metatropic dysplasia is a rare genetic condition characterized by progressive dwarfism. Metatropic dysplasia is defined as a short limb skeletal dysplasia characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail. Children born with this condition show different signs and symptoms throughout the childhood. An eight years old boy was admitted in the Paediatric ward of Bangbandhu Sheikh Mujib Medical University (BSMMU), Dhaka with the complain of swelling in the back for 7 1/2 years. On examination the boy had features suggestive of Metatropic dysplasia. Radiological findings included exaggerated curvature of the spine which was different at the different levels giving rise to "S" shaped deformity, pectus carinatum and flattening of the vertebral bodies which were variable at different levels. From the history, clinical examination and radiological findings the boy was diagnosed as a case of metatropic dysplasia.