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1.
Bone Rep ; 13: 100735, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33304945

RESUMO

OBJECTIVES: Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders of connective tissue that cause skeletal fragility and extra-skeletal manifestations. Classically, four different types of OI were distinguished. Type 5 OI was added due to its distinct clinical and radiographic features. In 2012, two independent groups identified a recurrent heterozygous c.-14C>T mutation in IFITM5 as the responsible genetic change for this type of OI. To our knowledge, cervical kyphosis has not been identified in the literature as a finding in type 5 OI patients. This is a retrospective review of a cohort of patients with type 5 OI and a description of associated cervical spine deformity. METHODS: After institutional review board approval, a retrospective review identified 13 patients with type 5 OI. Clinical, radiologic, and genetic data from 2002 to 2020 were reviewed. RESULTS: We identified 13 patients with clinical diagnosis of type 5 OI. Twelve had molecular confirmation and the classic IFITM5, c.14C>T gene mutation was identified. The remaining individual did not undergo genetic testing. Dentinogenesis imperfecta was observed in one patient, while blue sclerae or hearing loss were not present. All patients had at least one fracture and four underwent intramedullary rodding. Radiologic features included subphyseal metaphyseal radiodense line in 12/13 patients (92%), interosseous membrane calcification in seven of 13 patients (54%) (more commonly noted in the upper extremities), and hypertrophic callus in six of 13 patients (46%). Thoracolumbar spinal deformities were seen in six of 13 patients (46%) with two of these individuals requiring surgery. Cervical kyphosis was noted in nine of 13 individuals (69%) ranging in age from 3 months to 22 years. Anterior wedging of the cervical vertebral bodies was noted in the absence of any fractures. Six of nine individuals demonstrated listhesis of C2-C3 or C3-C4 segment. Magnetic resonance imaging studies were performed and reviewed in patients with cervical kyphosis and subluxation; three patients showed narrowing of spinal canal without cervical cord compression and one asymptomatic patient showed impingement of the spinal cord. CONCLUSIONS: Cervical kyphosis appears to be a common feature of type 5 OI. It can be a presenting and apparently life-long association and does not appear to be caused by vertebral body fractures. Evaluation for cervical kyphosis should be performed in patients with a suspected or confirmed diagnosis of type 5 OI. Furthermore, if cervical kyphosis is noted in an individual with OI, type 5 OI should be considered.Level of evidence: IV.

2.
Artigo em Inglês | MEDLINE | ID: mdl-32377613

RESUMO

Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings. Case Presentation: Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up. Conclusions: Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.


Assuntos
Articulação do Ombro , Irmãos , Vértebras Cervicais , Criança , Anormalidades Congênitas , Feminino , Humanos , Escápula/anormalidades , Escápula/diagnóstico por imagem , Articulação do Ombro/anormalidades
3.
Case Rep Orthop ; 2019: 8014038, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31001443

RESUMO

The aim of this study was to evaluate the association of contractures, fractures, and deformities in four patients with Bruck syndrome treated in our facility. Data were collected from medical records, radiographs, dual-energy X-ray absorptiometry (DEXA) scans, genetic tests, and gait analysis. All had contractures at birth and genotypic findings including mutations in PLOD2 or FPKB10. Three cases were treated with bisphosphonates with improvement in bone density verified by DEXA. In Bruck syndrome, orthopedic deformities include the following sequential aspects: contractures, characterized by upper and lower extremity contractures such as clubfeet; fractures, characterized by multiple diaphyseal fractures in the long bones of the extremities; and deformities, characterized by malalignment of extremities and the spine. Physical therapy and bracing proved helpful for the contractures to try to stop progression. Bone fragility needs to be considered when deciding to attempt cast correction. Surgeries in the soft tissues can be performed to retain joint movement. In fractures with angulation, intramedullary nail fixation was useful, and in cases without deformity, casting alone was successful. We suggest monitoring the bone density with DEXA, nutrition support with vitamin D and calcium, and treatment with bisphosphonates. Spine deformities were successfully treated by spinal fusion and instrumentation.

4.
Bone Rep ; 9: 132-135, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30246063

RESUMO

Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are caused by mutations in COL1A1 or COL1A2. Recent investigations have discovered several other autosomal recessive genes responsible for OI. Among these genes is LEPRE1, which is involved in post-translational modifications of collagen. To date, more than 40 LEPRE1 mutations have been described. One of these mutations is carried by 1.5% of West Africans and 0.4% of African Americans, and is associated with OI Type VIII. We describe the case of a five year old male with a moderate form of OI and compound heterozygous LEPRE1 mutations (c.1080 + 1G > T; c.1646 T > G, p.Met549Arg). He was diagnosed shortly after birth following a skeletal survey demonstrating multiple healing fractures as well as lower extremity deformity suggestive of remote fractures. He was then without a fracture until a calvarial fracture at 18 months of age, a femur fracture at 4 years and seven months and a second femur fracture at 5 years and 4 months. He walked at age 14 months and has been an active boy. Pamidronate infusions began at seven weeks of age and were discontinued at three years of age due to increased bone mineral density and absence of fractures. Type VIII OI typically causes a severe to lethal phenotype presenting at birth with severe osteopenia, congenital fractures and other clinical manifestations. Only a few individuals have survived to childhood. This case description serves to expand the clinical phenotyping of this recessive form of OI into the more moderate spectrum.

5.
Rev. venez. cir. ortop. traumatol ; 45(2): 56-63, 2013. ilus, tab
Artigo em Espanhol | LILACS, LIVECS | ID: biblio-1283064

RESUMO

La mayoría de los sistemas de fijación ósea no están diseñados para pacientes de baja estatura con huesos de pequeño diámetro y longitud, como los que se presentan en osteogénesis imperfecta, raquitismo y displasias óseas con afectación de las fisis. En niños con defectos del metabolismo óseo, los clavos telescópicos que se fijan en las fisis, suelen ser los más indicados. El Clavo de Fassier-Duval tiene excelentes reportes, pero no controla la rotación y funciona solo en personas con placas de crecimiento abiertas. Para adultos y adolescentes con huesos pequeños y débiles, no existía un clavo intramedular ajustado a sus tamaños. Esta carencia llevó al autor a involucrarse en el diseño del CLAVO GAP. Tiene diámetros desde 4,8 mm y longitudes hasta 320 mm, canulado, capacidad de bloqueo proximal y distal, se puede utilizar en fémur, tibia y húmero. Es común que estos pacientes presenten debilidad de la cortical lateral del tercio proximal del fémur, por lo que se diseñó para agregarle una fijación al cuello femoral y el trocánter. Presentamos 5 casos realizados por los autores con este sistema de fijación ósea en pacientes con osteogénesis imperfecta. En todos los casos se logró el objetivo de estabilizar los segmentos óseos extremadamente débiles, con diámetros por debajo de los parámetros convencionales, sin requerir uso de férulas post-quirúrgicas(AU)


Most of the systems for bone fixation are not designed for patients of short stature with small bones, like in the patients with osteogénesis imperfecta, rickets and bone dysplasia with affectation of the fisis. In children with defects of the bone metabolism, the nails that telescope and hold in the physes, usually are indicated. Fassier-Duval Nails has excellent reports, but it does not have control of the rotation and it works only in patients with physes open. For adults and adolescents with small and weak bones, did not exist an endomedular nail that fit its sizes. This deficiency was an incentive to the author to become involved in the design of the GAP NAIL. It has diameters from 4.8 mm and lengths to 320 mm. It is canulated. It has capacity of being locked proximal and distally. It can be used in femur, tibia and humerus. It is common that these patients present weakness of the lateral cortex of the proximal third of the femur, reason why was designed to have the possibility to fix the femoral neck and trochanter. We present 5 cases were this system was used in patients with OI. In all the cases the objective was reached, that was to stabilized bones extremely fragile, with diameters below the conventional parameters, without requiring use of braces in the postop(AU)


Assuntos
Humanos , Masculino , Feminino , Dispositivos de Fixação Ortopédica , Osteogênese Imperfeita/diagnóstico , Doenças do Desenvolvimento Ósseo , Pinos Ortopédicos , Pacientes , Rotação , Tamanho Corporal
6.
Arch. venez. pueric. pediatr ; 65(2): 76-80, abr.-jun. 2002. tab, graf
Artigo em Espanhol | LILACS | ID: lil-349149

RESUMO

Desde su aparición en el mercado en 1950 el acetaminofén es el medicamento más utilizado para el manejo del dolor y la fiebre. Es a partir de 1996 que se ha descrito la presencia de hepatotoxicidad posterior a la administracción de dosis única elevada o de dosis ligeramente supraterapéutica repetidas. A pesar de que los niños aparentan ser manos susceptibles, debido a diferencias en el metabolismo de la droga, no están exentos de sufrirla. En adolescentes y adultos la causa más común de intoxicación con acetaminofén son intentos suicidas, en los niños ésta ocurre por error en la dosificación para el manejo de la fiebre. la educación juega un papel especial en la prevención de este accidente, que es fatal en caso de complicarse con insuficiencia hepática. Presentamos el caso de una pacientede 4 años de edad manejada ambulatoriamente por un cuadro respiratorio con acetaminofén y antibiótico. Por error en la dosificación del acetaminofén presentó una hepatitis tóxica


Assuntos
Acetaminofen , Cuidado da Criança , Pediatria , Venezuela
7.
Bol. Hosp. Niños J. M. de los Ríos ; 38(1): 31-35, ene.-abr. 2002. tab
Artigo em Espanhol | LILACS | ID: lil-389502

RESUMO

Se analizan los resultados de la aplicación de la reacción en cadena de polimerasa (PCR) para mycrobacterium tuberculosis, realizados en el Hospital de Niños, entre marzo del 2000 hasta enero del 2002. Las muestras son de contenido gástrico, lavado bronquial, esputo, orina, líquido cefalorraquídeo, líquido pleural y biopsia de ganglio. Para la extracción y amplificación de ADN se utilizó Protocolo de Laboratorio Abbott. Como control negativo se utilizó esperma de salmón y como control positivo extracto de ADN inactivo de M. tuberculosis H37Ra


Assuntos
Humanos , Lavagem Broncoalveolar , Criança , Conteúdo Gastrointestinal , Mycobacterium tuberculosis , Reação em Cadeia da Polimerase , Pediatria , Venezuela
8.
Bol. Hosp. Niños J. M. de los Ríos ; 38(1): 49-53, ene.-abr. 2002. tab
Artigo em Espanhol | LILACS | ID: lil-389505

RESUMO

Los antiflamatorios no esteroideos (AINES) constituyen una de las drogas de mayor uso en la medicina actual, además son la primera causa de enfermedad hepática inducida por drogas. Existen diferentes tipos de AINES, con distintos mecanismos de acción que pudieran ser hepatotóxicos. Entre ellos están los salicilatos (aspirina), los derivados del ácido acético (diclofenac, indometacina, ketorolac), los derivados del ácido propiónico (ibuprofeno y el ketoprofeno), nimesulide, entre otros. Mención a parte merece el acetaminofen, pues si bien no es un AINES, forma parte de los medicamentos más utilizados, siendo éste potencialmente hepatotóxico. Es importante un buen manejo de estos fármacos, pues son de uso diario y de gran utilidad terapéutica


Assuntos
Anti-Inflamatórios não Esteroides , Preparações Farmacêuticas , Automedicação , Farmacologia , Venezuela
9.
Bol. Hosp. Niños J. M. de los Ríos ; 35(2): 39-42, mayo-ago. 1999. graf
Artigo em Espanhol | LILACS | ID: lil-305178

RESUMO

Se realizó una revisión de 57 historias clínicas de pacientes ingresados con el diagnóstico de Celulitis, al Servicio de Medicina III del Hospital de Niños "J.M de Los Ríos", entre los años 1995 y 1998, ambos inclusive. Se encontró una mayor incidencia en varones que en hembras. Los lactantes fueron el grupo de edad más afectados y la distribución de las lesiones, en cuenta a la ubicación de la zona afectada (cara o miembros), fue de similar proporción


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Celulite (Flegmão) , Dermatologia , Edema , Face , Perna (Membro) , Pele , Streptococcus pyogenes , Medicina , Venezuela
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