Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 662
Filtrar
1.
BMJ Case Rep ; 13(12)2020 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-33318265

RESUMO

We present a 9-year-old male child having history of fractures on trivial trauma with a family history of the same. He was treated for osteogenesis imperfecta (OI; zolendronate, calcium and vitamin D) and showed clinical improvement. On evaluating his bone health using dual energy X-ray absorptiometry and peripheral quantitative CT, we found that the child had bone density within the reference range but a smaller bone mass for his height, low muscle mass and thin bones with a lower strength strain index in comparison with healthy children. Our case suggests that treatment with bisphosphonates results in increase in bone density; however, bones remain thin and the lean body mass in these children may also be low. Controlled physical activity to improve muscle health and newer approaches to improve bone geometry would result in better bone health in children with OI.


Assuntos
Absorciometria de Fóton , Densidade Óssea , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/fisiopatologia , Tomografia Computadorizada por Raios X , Conservadores da Densidade Óssea/uso terapêutico , Cálcio/uso terapêutico , Criança , Difosfonatos/uso terapêutico , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Humanos , Masculino , Osteogênese Imperfeita/tratamento farmacológico , Tomografia Computadorizada por Raios X/métodos , Vitamina D/uso terapêutico , Ácido Zoledrônico/uso terapêutico
2.
Bone Joint J ; 102-B(8): 1048-1055, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32731828

RESUMO

AIMS: The Fassier Duval (FD) rod is a third-generation telescopic implant for children with osteogenesis imperfecta (OI). Threaded fixation enables proximal insertion without opening the knee or ankle joint. We have reviewed our combined two-centre experience with this implant. METHODS: In total, 34 children with a mean age of five years (1 to 14) with severe OI have undergone rodding of 72 lower limb long bones (27 tibial, 45 femoral) for recurrent fractures with progressive deformity despite optimized bone health and bisphosphonate therapy. Data were collected prospectively, with 1.5 to 11 years follow-up. RESULTS: A total of 24 patients (33%) required exchange of implants (14 femora and ten tibiae) including 11 rods bending with refracture. Four (5%) required reoperation with implant retention. Loss of proximal fixation in the femur and distal fixation in the tibia were common. Four patients developed coxa vara requiring surgical correction. In total, 13 patients experienced further fractures without rod bending; eight required implant revision. There was one deep infection. The five-year survival rate, with rod revision as the endpoint, was 63% (95% confidence interval (CI) 44% to 77%) for femoral rods, with a mean age at implantation of 4.8 years (1.3 to 14.8), and 64% (95% CI 36% to 82%) for tibial rods, with a mean age at implantation of 5.2 years (2.0 to 13.8). CONCLUSION: FD rods are easier to implant but do not improve on the revision rates reported for second generation T-piece rods. Proximal femoral fixation is problematic in younger children with a partially ossified greater trochanter. Distal tibial fixation typically fails after two years. Future generation implants should address proximal femoral and distal tibial fixation to avoid the majority of complications in this series. Cite this article: Bone Joint J 2020;102-B(8):1048-1055.


Assuntos
Fraturas do Fêmur/cirurgia , Fixação Intramedular de Fraturas/métodos , Consolidação da Fratura/fisiologia , Osteogênese Imperfeita/cirurgia , Reoperação/métodos , Fraturas da Tíbia/cirurgia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Fraturas do Fêmur/diagnóstico por imagem , Fraturas do Fêmur/etiologia , Seguimentos , Fixação Intramedular de Fraturas/efeitos adversos , Fixação Intramedular de Fraturas/instrumentação , Humanos , Fixadores Internos , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico por imagem , Estudos Prospectivos , Recidiva , Reoperação/estatística & dados numéricos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fraturas da Tíbia/diagnóstico por imagem , Fraturas da Tíbia/etiologia , Fatores de Tempo
3.
Reumatol. clín. (Barc.) ; 16(2,pt.2): 165-168, mar.-abr. 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-194341

RESUMO

La osteogénesis imperfecta (OI) es un trastorno hereditario del tejido conectivo generalmente relacionado con mutaciones de los genes del colágeno tipoI. El diagnóstico se basa en los hallazgos clínicos y radiológicos. El manejo clínico de la OI en adultos no está del todo establecido y comprende desde la rehabilitación física y los procedimientos quirúrgicos hasta el uso de tratamientos antirresortivos y osteoformadores. El objetivo del presente trabajo ha sido analizar las características clínicas y analíticas de estos pacientes en la edad adulta, así como evaluar los diferentes tratamientos administrados. Se han revisado los casos de OI diagnosticados en nuestro centro en los últimos 12 años (2005-2017). Se describen 15 pacientes adultos con OI


Osteogenesis imperfecta (OI) is an inherited connective tissue disease. The disease has been linked to mutations in one of the type I collagen genes. The diagnosis is based on clinical and radiologic findings. The management of OI in adults is not well-established and includes physical rehabilitation, surgical procedures, the use of antiresorptive therapy and anabolic agents. The aim of the present work was to analyze the clinical and analytical characteristics of these patients in adulthood, as well as to evaluate the different treatments administered. We reviewed the cases of OI diagnosed in our center over the last 12 years (2005-2017). We describe 15 adult patients with OI


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/tratamento farmacológico , Difosfonatos/administração & dosagem , Densitometria/métodos , Osteogênese Imperfeita/fisiopatologia , Pró-Colágeno/uso terapêutico , Estudos Retrospectivos , Esclerose/complicações , Dentinogênese , Osteoporose/complicações , Doenças Ósseas Metabólicas/complicações
4.
Reumatol. clín. (Barc.) ; 16(1): 56-58, ene.-feb. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-194262

RESUMO

La enfermedad de Pyle (OMIN número 265900) es una displasia metafisaria de curso benigno que se hereda con un patrón autosómico recesivo. Se han descrito unos 30 casos genuinos hasta el momento. La causa de este proceso se conoce desde 2016, cuando se descubre su relación con mutaciones en el gen que codifica la proteína sFRP, un conocido inhibidor de la vía Wnt. Se presenta el caso de un varón de 58 años, diagnosticado de enfermedad de Pyle con base en sus características clínicas y radiográficas, cuyo fenotipo muestra un control diferencial de la homeostasis del hueso cortical y trabecular


Pyle's disease (OMIN number 265900) is a metaphyseal dysplasia of benign course, inherited with an autosomal recessive pattern. Some 30 genuine cases have been described so far. The cause of this process has been known since 2016, when its relationship to mutations in the gene encoding the sFRP protein, a known inhibitor of the Wnt pathway, was discovered. We report the case of a 58-year-old man, diagnosed with Pyle's disease based on his clinical and radiographic characteristics, whose phenotype suggested a differential control of cortical and trabecular bone homeostasis


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Osso Cortical/patologia , Osso Esponjoso/patologia , Doenças Ósseas/diagnóstico , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Homeostase/imunologia , Doenças Ósseas/genética , Doenças Ósseas/terapia , Densitometria , Osteogênese Imperfeita/diagnóstico por imagem
5.
Eur J Ophthalmol ; 30(1): NP21-NP24, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30409043

RESUMO

PURPOSE: To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization. CASE REPORT: A 28-year-old man, diagnosed with osteogenesis imperfecta, was referred 2 months after the appearance of central scotoma and metamorphopsia in the right eye. The patient underwent a complete ophthalmological evaluation including visual acuity examination as well as ophthalmoscopy, spectral-domain optical coherence tomography, optical coherence tomography angiography, fundus autofluorescence imaging, fluorescein angiography and microperimetry. Complete examination revealed macular lacquer crack with subretinal haemorrhage. A further investigation with spectral-domain optical coherence tomography and fluorescein angiography revealed the presence of choroidal neovascularization without clear activity associated to the lacquer crack. After a 1-month follow-up, both visual acuity and retinal sensitivity improved spontaneously. CONCLUSION: Collagen deficiency of osteogenesis imperfecta leads to fragility of the Bruch's membrane; tension forces probably act at this level determining ruptures with bleeding and choroidal neovascularization formation. Multimodal imaging and functional evaluation are needed to assess retinal alterations in patients with osteogenesis imperfecta, whereas treatment of choroidal neovascularization should be reserved only for active lesion to prevent evolution and visual acuity decrement.


Assuntos
Neovascularização de Coroide/diagnóstico por imagem , Imagem Multimodal , Osteogênese Imperfeita/diagnóstico por imagem , Adulto , Neovascularização de Coroide/etiologia , Angiofluoresceinografia/métodos , Humanos , Masculino , Oftalmoscopia/métodos , Imagem Óptica , Osteogênese Imperfeita/complicações , Tomografia de Coerência Óptica/métodos , Acuidade Visual/fisiologia
6.
Int J Nanomedicine ; 14: 9423-9435, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31819441

RESUMO

Introduction: Dentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) associated with osteogenesis imperfecta. OIDI impacts the formation of collagen fibrils in dentin, leading to morphological and structural changes that affect the strength and appearance of teeth. However, there is still a lack of understanding regarding the nanoscale characterization of the disease, in terms of collagen ultrastructure and mechanical properties. Therefore, this research presents a qualitative and quantitative report into the phenotype and characterization of OIDI in dentin, by using a combination of imaging, nanomechanical approaches. Methods: For this study, 8 primary molars from OIDI patients and 8 primary control molars were collected, embedded in acrylic resin and cut into longitudinal sections. Sections were then demineralized in 37% phosphoric acid using a protocol developed in-house. Initial experiments demonstrated the effectiveness of the demineralization protocol, as the ATR-FTIR spectral fingerprints showed an increase in the amide bands together with a decrease in phosphate content. Structural and mechanical analyses were performed directly on both the mineralized and demineralized samples using a combination of scanning electron microscopy, atomic force microscopy, and Wallace indentation. Results: Mesoscale imaging showed alterations in dentinal tubule morphology in OIDI patients, with a reduced number of tubules and a decreased tubule diameter compared to healthy controls. Nanoscale collagen ultrastructure presented a similar D-banding periodicity between OIDI and controls. Reduced collagen fibrils diameter was also recorded for the OIDI group. The hardness of the (mineralized) control dentin was found to be significantly higher (p<0.05) than that of the OIDI (mineralized) dentine. Both the exposed peri- and intratubular dentinal collagen presented bimodal elastic behaviors (Young's moduli). The control samples presented a stiffening of the intratubular collagen when compared to the peritubular collagen. In case of the OIDI, this stiffening in the collagen between peri- and intratubular dentinal collagen was not observed and the exposed collagen presented overall a lower elasticity than the control samples. Conclusion: This study presents a systematic approach to the characterization of collagen structure and properties in OIDI as diagnosed in dentin. Structural markers for OIDI at the mesoscale and nanoscale were found and correlated with an observed lack of increased elastic moduli of the collagen fibrils in the intratubular OIDI dentin. These findings offer an explanation of how structural changes in the dentin could be responsible for the failure of some adhesive restorative materials as observed in patients affected by OIDI.


Assuntos
Colágeno/metabolismo , Dentinogênese Imperfeita/metabolismo , Osteogênese Imperfeita/metabolismo , Dentina/metabolismo , Dentina/ultraestrutura , Dentinogênese Imperfeita/diagnóstico por imagem , Elasticidade , Dureza , Humanos , Dente Molar , Osteogênese Imperfeita/diagnóstico por imagem , Fenótipo , Radiografia Interproximal , Espectroscopia de Infravermelho com Transformada de Fourier , Desmineralização do Dente
7.
Rev. cuba. pediatr ; 91(4): e926, oct.-dic. 2019. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1093736

RESUMO

Introducción: la osteogénesis imperfecta es una rara enfermedad genética hereditaria caracterizada por su heterogeneidad causada por defectos del tejido conectivo con el rasgo de fragilidad ósea determinante de múltiples fracturas, incluso prenatales; deformidades de huesos largos y columna vertebral y otros síntomas extra-esqueléticos, como escleróticas de color azul, dentinogénesis imperfecta, trastorno de audición y afectación cardiovascular. Objetivo: Presentar un paciente con las características clínicas e imagenológicas de osteogénesis imperfecta de tipo III. Presentación del caso: Niño ecuatoriano de 4 años de edad de baja talla con antecedente de fracturas múltiples desde los 8 meses de nacido, con deformidad en columna vertebral demostrada por radiología por cifoescoliosis en forma de "S" y fracturas vertebrales, con deformidad progresiva en huesos largos; ha sufrido 16 fracturas, no deambula, sensorio presente, orientado en tiempo y espacio, desarrollo cognitivo normal para la edad. La fragilidad ósea del niño según el fenotipo clasifica al diagnóstico de tipo III de osteogénesis imperfecta, el cual es progresivo e invalidante por las deformidades óseas y múltiples fracturas demostradas en exámenes imagenológicos, sin modificaciones en el color de escleróticas, de herencia presumiblemente dominante. Conclusiones: La descripción clínica y radiológica de osteogénesis imperfecta, afección poco conocida, correspondiente al fenotipo III de la enfermedad, reportada en niño ecuatoriano de 4 años de edad, con talla baja que no deambula, expresión de la severidad de su afección genética, con severas alteraciones óseas por su fragilidad con fracturas múltiples en huesos largos y vértebras(AU)


Introduction: Osteogenesis imperfecta is a rare hereditary genetic disease characterized by its heterogeneity caused by connective tissue defects with the feature of bone fragility determining multiple fractures, even prenatal ones; also deformities of long bones and spine, and other extra-skeletal symptoms, such as blue sclerotic, dentinogenesis imperfecta, hearing disorder and cardiovascular affectations. Objective: To present a patient with clinical and radiological findings of osteogenesis imperfect type III. Case presentation: Ecuadorean male child of 4 years old, with a short height, history of multiple fractures from 8 months of age, with spinal deformity demonstrated by radiology due to "S" shaped kyphoscoliosis and vertebral fractures, with progressive deformity in long bones. The boy has suffered 16 fractures, he does not wander, and he is sensory present, oriented in time and space, with normal cognitive development for his age. The bone fragility of the child according to the phenotype classifies in the type III diagnosis of osteogenesis imperfecta, which is progressive and invalidating due to bone deformities and multiple fractures evidenced in imaging tests, without changes in the color of sclerotics and of presumably dominant inheritance. Conclusions: The clinical and radiological description of osteogenesis imperfecta, which is little-known pathology, corresponding to type III phenotype is reported in a 4-year-old boy who, due to his involvement, has a short height and does not wander as a consequence of the severity of bone affectations with fractures in long bones and vertebrae, mainly produced by the fragility of the bones due to his genetic disease(AU)


Assuntos
Humanos , Masculino , Pré-Escolar , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/diagnóstico por imagem , Doenças Raras/prevenção & controle , Diagnóstico Precoce , Equador
8.
J Pediatr Orthop ; 39(10): e750-e754, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31599861

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder commonly associated with osteopenia, osteoporosis, bone fractures, bone deformities, and other clinical features. A frequent radiologic finding with OI is acetabular protrusio (AP). We hypothesized that AP develops in patients with OI over time. In addition, we hypothesized that AP also develops in patients with OI without radiographic evidence of AP on initial examination. METHODS: Medical records and radiographs of 55 patients (109 hips) diagnosed with OI evaluated at our institution were retrospectively reviewed. Previously established radiographic criteria using the center-edge (CE) angle of Wiberg, position of the acetabulum relative to the iliopectineal line, crossing of the acetabulum across the ilioischial (Kohler) line, and position of the teardrop figure relative to the ilioischial (Kohler) line were utilized to assess AP severity. In addition, pharmacological treatments and patient factors including body mass index (BMI) were recorded. Radiographs of patients with OI that were taken ≥2 years apart were analyzed utilizing AP radiographic criteria to assess for changes. The changes in AP-related measurements were standardized by distance or degree per year. In addition, patient factors were evaluated for associations with AP development. RESULTS: In this series of 109 hips (55 patients), incidence of AP in earliest radiographs was 45% (49/109). Patients with OI type I and III demonstrated the highest incidence of AP (65%). Among the hips that did not meet the criteria for AP in their early radiographs, 24 (40%) were positive for AP by their latest radiograph. In the hips that initially presented with AP, 42% showed increased CE angles on later radiographs. Twenty-six hips (24%) showed either no observable changes or reduced CE angles. Risk factors that were significantly associated with greater odds of developing AP included (1) an age under 12; (2) a BMI>25; (3) presence of AP of the contralateral hip; and (4) female sex. Bisphosphonates, vitamin D, physical therapy, and other drugs related to treatment of OI reduced the risk of developing AP but did not achieve statistical significance. CONCLUSIONS: AP is a common finding in OI patients (54%). Among hips of OI patients that met criteria for AP in early radiographs, 42% (20/48) demonstrated greater CE angles in their latest radiographs. Similar changes were observed in OI patients who did not initially meet criteria for diagnosis for AP. However, CE angle measurements between the 2 groups did not significantly differ (P=0.71). In terms of Kohler line crossing, patients that met criteria for AP in early radiographs had significantly greater change per year than those that did not have AP criteria (P<0.05). The findings suggest AP may develop over time in patients with OI and may be influenced by patient factors such as age, sex, and BMI. In addition, unilateral AP may have a significant impact on the development of AP of the contralateral hip. LEVEL OF EVIDENCE: Level IV-retrospective case series.


Assuntos
Acetábulo/anormalidades , Acetábulo/diagnóstico por imagem , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico por imagem , Adolescente , Adulto , Fatores Etários , Índice de Massa Corporal , Criança , Pré-Escolar , Progressão da Doença , Feminino , Articulação do Quadril/anormalidades , Articulação do Quadril/diagnóstico por imagem , Humanos , Masculino , Radiografia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais
9.
JBJS Case Connect ; 9(3): e0317, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31584903

RESUMO

CASE: We present an unusual case of a distal metaphyseal femur insufficiency fracture in an adolescent with a history of multiple low-energy appendicular fractures. A genetic workup was significant for a variant of unknown significance to the Col1A1 gene. CONCLUSIONS: To our knowledge, this is the first report of this collagen gene variant as a risk factor for multiple fractures. The case illustrates the presentation of this gene's phenotype and suggested medical management.


Assuntos
Fraturas do Fêmur/diagnóstico por imagem , Osteogênese Imperfeita/diagnóstico por imagem , Adolescente , Colágeno Tipo I/genética , Humanos , Imagem por Ressonância Magnética , Masculino , Osteogênese Imperfeita/genética , Radiografia
10.
Prog. obstet. ginecol. (Ed. impr.) ; 62(5): 487-492, sept.-oct. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-192134

RESUMO

Las displasias esqueléticas fetales constituyen un conjunto heterogéneo e infrecuente de anomalías en el crecimiento y desarrollo de las estructuras osteocartilaginosas que resultan en una alteración tanto en la forma como en el tamaño de los huesos largos. La identificación ecográfica de las displasias esqueléticas no es difícil puesto que la medición femoral es una rutina en el exámen ecográfico del feto, pero el diagnóstico diferencial de las mismas es complejo. El estudio genético prenatal ha suspuesto un gran avance en su diagnóstico, basándose de forma práctica la orientación diagnóstica en la determinación de su letalidad. La osteogénesis imperfecta tipo VII es un tipo de displasia ósea severa, infrecuente y de herencia autosómica recesiva. Se manifiesta por una rizomielia con deformidades tempranas sobre todo de miembros inferiores. Presenta fracturas neonatales y su pronóstico es desfavorable, siendo la causa más frecuente de muerte neonatal las complicaciones respiratorias con estrechamiento y compresión torácica. El objetivo de este trabajo es exponer un caso de osteogénesis imperfecta tipo VII y hacer una revisión de las principales displasias esqueléticas. Se discute el diagnóstico y manejo de las mismas


Fetal skeletal dysplasias constitute a heterogeneous and infrequent set of abnormalities in the growth and development of osteocartilaginous structures that result in an alteration in both the shape and size of long bones. The ultrasonographic identification of skeletal dysplasias is not difficult because the femoral measurement is a routine in the ultrasound examination of the fetus, but the differential diagnosis of theme is complex. The prenatal genetic study has shown a great advance in its diagnosis, based in a practical way the diagnostic orientation in the determination of its lethality. Osteogenesis imperfecta type VII is a type of severe, infrequent bone dysplasia with recessive autosomal inheritance. It is manifested by a rhizomyelia with early deformities especially of lower limbs. It presents neonatal fractures and its prognosis is unfavorable, being the most frequent cause of neonatal death the respiratory complications with narrowing and thoracic compression. The objective of this paper is to present a case of osteogenesis imperfecta type VII and to review the main skeletal dysplasias. We discuss the diagnosis and management of them


Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Adulto , Osteogênese Imperfeita/diagnóstico por imagem , Diagnóstico Diferencial , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
11.
World Neurosurg ; 131: 154-158, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31398526

RESUMO

BACKGROUND: Proximal junctional failure (PJF) is a major and sometimes devastating problem following adult spinal deformity (ASD) correction surgery. Common consensus still lags on guidelines for preventing and managing these complications. Surgical treatment of scoliosis in the presence of osteogenesis imperfecta (OI) in the pediatric population is well described. The complication rates are unusually higher in this special subset of patients owing to poor quality of bone. There is a paucity of literature focusing on surgical techniques, strategies, and problems involved in the management of ASD associated with OI. CASE DESCRIPTION: We report a 59-year-old female with type 1 OI and adult scoliosis who underwent T10-to-pelvis fusion for ASD according to the principles of adult deformity correction. At a 1-year follow-up, she presented with asymptomatic proximal junctional kyphosis of 45° and 2 weeks later had PJF along with spinal cord injury after a fall. On computed tomography scan, kyphosis was increased to 60° at T9-T10. She underwent decompression and revision deformity correction using quadruple rods, with extension of instrumentation to T2 with soft landing using rib bands. At a 4-year follow-up, she had a good functional outcome after revision surgery. CONCLUSIONS: This is the first report of successful management of PJF following ASD correction in the presence of OI using this technique. Suboptimal hold of implants due to poor bone quality must be at the focus of any surgical planning for these patients. All possible strategies to prevent PJF must be considered when planning the deformity correction in adults with OI.


Assuntos
Cifose/cirurgia , Osteogênese Imperfeita/complicações , Complicações Pós-Operatórias/cirurgia , Escoliose/cirurgia , Descompressão Cirúrgica , Feminino , Humanos , Fixadores Internos , Cifose/diagnóstico por imagem , Cifose/etiologia , Pessoa de Meia-Idade , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Reoperação , Escoliose/complicações , Escoliose/diagnóstico por imagem , Fusão Vertebral
12.
Artigo em Inglês | MEDLINE | ID: mdl-31399368

RESUMO

OBJECTIVE: This study aimed to assess the prevalence of dental findings on panoramic radiographs (PRs) of patients with osteogenesis imperfecta (OI) and correlate these results with epidemiologic and medical data. STUDY DESIGN: A case-control study was conducted with 24 patients with OI and 48 sex- and age-matched controls. Demographic, clinical, and bisphosphonate regimen-related data were recorded. The outcome variables were the presence or absence of dental alterations in PRs. Mann-Whitney U test, Pearson's χ2 test, and multinomial logistic regression analysis (95% confidence interval) were used (significance level of 5%). RESULTS: OI type 4 demonstrated a high prevalence (62.5%), followed by type 1 (37.5%). With regard to prevalence associated with severity, the moderate form was the most prevalent (P = .028). The mean time of intravenous pamidronate regimen was 6.6 ± 4.4 years. Dentinogenesis imperfecta was observed in 75% of patients with OI, and this group showed a high prevalence of dental abnormalities in comparison with controls (P < .05). Bisphosphonate therapy was associated with ectopic teeth (P = .007) and tooth impaction (P = .033). Pulp obliteration was significant with bisphosphonate treatment over a period of 7 years (P = .026). CONCLUSIONS: This study found a significant prevalence of dental alterations in patients with OI, and certain alterations were associated with bisphosphonate therapy, indicating its influence on the dentin-related physiopathology.


Assuntos
Osteogênese Imperfeita , Estudos de Casos e Controles , Difosfonatos , Humanos , Osteogênese Imperfeita/diagnóstico por imagem , Radiografia Panorâmica
13.
Bone ; 127: 646-655, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31369917

RESUMO

Osteogenesis imperfecta (OI) type I caused by the null allele of COL1A1 gene is in the majority in clinical OI cases. Currently, heterozygous Mov-13 mice generated by virus insertion in the first intron of col1a1 is the exclusive model to modulate OI type I, in spite of the gradually recovered bone mineral and mechanical properties. A newly designed heterozygous col1a1±365 OI mouse was produced in the present study by partial exons knockout (exon 2-exon 5, 365 nt of mRNA) using CRISPR/Cas9 system. The deletion resulted in generally large decrease in type I collagen synthesis due to frameshift mutation and premature chain termination, closely mimicking the pathogenic mechanism in affected individuals. And the strain possessed significantly sparse mineral scaffolds, bone loss, lowered mechanical strength and broken bone metabolism by 8 and 20 weeks compared to their littermates, suggesting a sustained skeletal weakness. Notably, the remarkable down-regulation of Yes-associated protein (YAP), one of the key coactivator in Hippo signaling pathway, was first found both in the femur and adipose derived mesenchymal stem cells (ADSCs) under osteogenic differentiation of col1a1±365 mice, which might be responsible for the reduced osteogenic potential and brittle bones. Still, further research was needed in order to illuminate the underlying mechanism.


Assuntos
Doenças do Desenvolvimento Ósseo/patologia , Osteogênese Imperfeita/patologia , Animais , Fenômenos Biomecânicos , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/fisiopatologia , Osso e Ossos/metabolismo , Osso e Ossos/patologia , Osso e Ossos/fisiopatologia , Calcificação Fisiológica , Diferenciação Celular , Colágeno Tipo I/genética , Modelos Animais de Doenças , Fêmur/diagnóstico por imagem , Fêmur/patologia , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Osteogênese , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/fisiopatologia , Transdução de Sinais , Microtomografia por Raio-X
14.
J Bone Miner Res ; 34(12): 2198-2204, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31356699

RESUMO

Intravenous cyclical bisphosphonates are widely used to treat children with moderate to severe osteogenesis imperfecta (OI). Bisphosphonates are often discontinued when growth is completed, but subsequent skeletal changes have not been studied in detail. We assessed 31 patients (22 females) with OI who had started intravenous bisphosphonates (either pamidronate or zoledronic acid) before 13 years of age, were treated for at least 2 years (range 4.7-15.7 years), and discontinued treatment after completion of growth, when their age ranged from 13.4 to 20.0 years (mean 16.4 years). At 4 years after treatment discontinuation, lumbar spine areal bone mineral density (BMD) had increased by 4% (p < 0.05). Peripheral quantitative computed tomography of the radius showed a decrease in trabecular volumetric BMD at the distal metaphysis of 19% but an increase in cortical volumetric BMD of 4% (p < 0.05 for both). None of the patients sustained a new vertebral compression fracture during follow-up. The proportion of patients with new long-bone fractures was higher in the 2 years before treatment discontinuation than in the last 2 years of follow-up (42% and 16%, respectively; p < 0.05). © 2019 American Society for Bone and Mineral Research.


Assuntos
Estatura , Osso e Ossos/patologia , Difosfonatos/uso terapêutico , Osteogênese Imperfeita/tratamento farmacológico , Suspensão de Tratamento , Absorciometria de Fóton , Adolescente , Densidade Óssea/efeitos dos fármacos , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/efeitos dos fármacos , Criança , Pré-Escolar , Difosfonatos/farmacologia , Feminino , Fraturas Ósseas/diagnóstico por imagem , Humanos , Lactente , Vértebras Lombares/diagnóstico por imagem , Masculino , Osteogênese Imperfeita/diagnóstico por imagem , Tomografia Computadorizada por Raios X
15.
Bone ; 127: 164-171, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31216496

RESUMO

Vertebral compression fracture (VCF) is a common and severe complication of osteogenesis imperfecta (OI). We prospectively observe the changes of vertebral shape during zoledronic acid (ZOL) treatment and assess influence factors of VCF in OI children. 32 children with VCF and 10 children without VCF (NVCF) were included and given ZOL treatment for 2 years, who were matched in age and gender. Control group included 17 treatment naïve OI patients with VCF who were matched in age, gender and clinical severity to 17 patients in VCF group received ZOL treatment for 1 year (as ZOL treated group). We performed quantitative vertebral morphometry and calculated concavity index (mh/ph), height-length ratio (ah/LL, mh/LL, ph/LL) and projection area (PA) of vertebrae from T4 to L4 before and after treatment. At baseline, patients in VCF group had significantly lower PA, mh/ph, ah/LL, mh/LL and ph/LL than patients in NVCF group (P < 0.01). PA, mh/ph, ah/LL, mh/ LL and ph/LL of patients with VCF were raised by (35.2 ±â€¯19.5)%, (22.9 ±â€¯15.1)%, (19.6 ±â€¯13.9)%, (33.6 ±â€¯25.5)%, and (8.1 ±â€¯8.8)% (P < 0.01) after 1-year treatment of ZOL, and were increased by (71.8 ±â€¯28.2)%, (42.8 ±â€¯21.8)%, (35.1 ±â€¯20.6)%, (65.4 ±â€¯43.2)%, and (12.5 ±â€¯11.4)% after 2-year treatment of ZOL (P < 0.01). Compared to control group, mh/ph, ah/LL and mh/LL were significantly higher (P < 0.01) in ZOL treated group. LS-BMD and its increase were positively correlated to vertebral height and PA at baseline and the improvement of vertebral height and PA after ZOL treatment, respectively. In conclusion, the compressive vertebrae of OI children could be effectively reshaped during ZOL treatment. Low LS-BMD was an independent risk factor for VCF and its increase was positively correlated to the improvement in vertebral shape after ZOL treatment.


Assuntos
Osteogênese Imperfeita/tratamento farmacológico , Coluna Vertebral/patologia , Ácido Zoledrônico/uso terapêutico , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Estudos Longitudinais , Osteogênese Imperfeita/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Ácido Zoledrônico/efeitos adversos , Ácido Zoledrônico/farmacologia
16.
J Food Sci ; 84(6): 1646-1650, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31116433

RESUMO

Pepino (Solanum muricatum), which is an evergreen plant native to South America, is well-known for its effects in antioxidation, antidiabetic activity, anti-inflammation, and antitumor activity. A previous study in our lab indicated that Solanum muricatum (SM) extract promoted osteogenic differentiation by upregulating Wnt and BMP signaling pathway in rat bone marrow stromal cells. The osteogenesis imperfecta (OI) mouse model was used in order to further discover the osteogenic properties of SM extract in the present research. We utilized microCT analysis to collect bone mass and microarchitectural parameters at vertebrae and at femur metaphysis in OI mice. Raman spectrometry was applied to identify change of bone mineral and matrix composition during SM treatment. Finally, collagen synthesis marker PINP and collagen degradation marker CTX were detected using enzyme immunoassay. SM extract could improve the bone mass and microarchitectural parameters both at vertebrae and at femur metaphysis. It also significantly increased the collagen content by promoting its biosynthesis and inhibiting its degradation. By using heterozygous Col1a1Jrt /+ mice as a model of OI, 6 weeks treatment of SM extract could significantly ameliorate the symptoms in OI mice. Thus, SM holds potential for developing new drugs of bone formation and bone remodeling.


Assuntos
Osteogênese Imperfeita/tratamento farmacológico , Extratos Vegetais/administração & dosagem , Solanum/química , Animais , Densidade Óssea/efeitos dos fármacos , Colágeno/metabolismo , Modelos Animais de Doenças , Feminino , Fêmur/diagnóstico por imagem , Fêmur/efeitos dos fármacos , Fêmur/metabolismo , Humanos , Masculino , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/metabolismo , Camundongos , Osteogênese/efeitos dos fármacos , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/metabolismo , Osteogênese Imperfeita/fisiopatologia , Microtomografia por Raio-X
17.
J Bone Miner Metab ; 37(5): 768-772, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31079208

RESUMO

Subchondral insufficiency fractures of the femoral head are generally considered to be osteoporosis-related fragility fractures. There have been reports of microfractures being found in subchondral bone on pathological examination. However, the mechanism of these microfractures is not known. In this report, we describe a patient with osteogenesis imperfecta who developed a subchondral insufficiency fracture of the femoral head after a fall that had resulted in a subcapital femoral neck fracture. Bipolar hemiarthroplasty was performed, and bone at the femoral head and neck was sampled for pathophysiological examination. Hematoxylin and eosin staining revealed microfractures and microcallus in the subchondral bone in the femoral head, indicating healing of a subchondral insufficiency fracture before the subcapital femoral neck fracture. Moreover, decreased bone volume and accumulated microdamage were observed in the subchondral bone but not in the cancellous bone in the femoral neck. These findings suggest that subchondral insufficiency fracture of the femoral head is a stress fracture caused by accumulation of microdamage in fragile subchondral bone.


Assuntos
Cabeça do Fêmur/lesões , Fraturas de Estresse/etiologia , Fraturas do Quadril/etiologia , Osteogênese Imperfeita/complicações , Adulto , Osso Esponjoso/patologia , Cabeça do Fêmur/diagnóstico por imagem , Cabeça do Fêmur/patologia , Colo do Fêmur/diagnóstico por imagem , Colo do Fêmur/patologia , Humanos , Masculino , Tamanho do Órgão , Osteogênese Imperfeita/diagnóstico por imagem
18.
Acta Orthop Belg ; 85(1): 1-11, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31023194

RESUMO

In our country, the sliding Flexible Intramedullary Nailing is used alone or in combination with Ilizarov frame in children with osteogenesis imperfecta. The study assesses the results of sliding intramedullary nailing in deformity correction in severe types of osteogenesis imperfecta. We retrospectively reviewed 17 consecutive cases (mean age 5.2 y.o.) of types III, IV and VII of osteogenesis imperfecta. In group I (9 patients) the transphyseal FIN was performed using titanium nails. Sliding flexible intramedullary nailing was associated with Ilizarov frame in group II in 8 children. Patients in group I had overall complication rate of 88.9%: proximal nail migration (3), early secondary torsional displacement (4), non-telescoping (12), angular deformity (2), delayed or non-union (2). The reoperation rate was 100%. In group II we observed complications in 6 patients: nail migration (2), bowing of femur (2), non-telescoping (3). The reoperation rate was 87.5%. Flexible intramedullary nailing allows realignment and good functional outcomes. Its major disadvantage is an important complication rate and related reoperation rate. The use of Ilizarov frame provides additional stability and allows early weight-bearing.


Assuntos
Fêmur/cirurgia , Fixação Intramedular de Fraturas/métodos , Osteogênese Imperfeita/cirurgia , Adolescente , Pinos Ortopédicos , Criança , Pré-Escolar , Feminino , Fêmur/diagnóstico por imagem , Humanos , Lactente , Ácido Iodoipúrico , Masculino , Osteogênese Imperfeita/diagnóstico por imagem , Reoperação , Estudos Retrospectivos , Resultado do Tratamento
19.
BMC Musculoskelet Disord ; 20(1): 92, 2019 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-30797234

RESUMO

BACKGROUND: Gnathodiaphyseal dysplasia (GDD) is an extremely rare autosomal dominant disease characterized by cemento-osseous lesions in the jawbones, bone fragility, and diaphyseal sclerosis of the tubular bones. Patients with GDD are prone to sustain fractures by minor accidents. Although over 80 cases have been reported, detailed information about the orthopedic treatment of the fractures is limited. CASE PRESENTATION: A 9-year-old Japanese girl with a known history of GDD presented with pain and deformity in the left thigh after a minor fall. She had a displaced transverse fracture in the mid-shaft of the left femur and underwent a closed reduction and external fixation. In the 25th week after the initial surgery, she had another fracture in the left femur at one of the half-pin insertion sites. She underwent an external fixation again. After this operation, the patient sustained another refracture at the same fracture site and one supracondylar fracture at the distant site of the femur. The supracondylar fracture occurred without any triggering activity before beginning a weight-bearing exercise. The supracondylar fracture was successfully treated conservatively, but she sustained two more diaphyseal fractures at half-pin insertion sites one after another. She eventually underwent a revision surgery with a flexible intramedullary nail. At 3 months postoperatively, the fracture was healed and the patient maintained her ambulatory status without further refracture. CONCLUSIONS: Patients with GDD might have narrower safety ranges of biomechanical and physiological drawbacks, which are considered to be acceptable in ordinary cases. The choice of treatment should be aimed at minimizing these negative effects. We recommend intramedullary devise as the first-choice implant for the treatment of isolated femoral shaft fracture in GDD patients in this age group.


Assuntos
Fraturas do Fêmur/diagnóstico por imagem , Fraturas do Fêmur/cirurgia , Fixação Interna de Fraturas/métodos , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/cirurgia , Criança , Feminino , Fraturas do Fêmur/etiologia , Fixação Interna de Fraturas/instrumentação , Humanos , Osteogênese Imperfeita/complicações , Recidiva
20.
J Hum Genet ; 64(4): 291-296, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30692598

RESUMO

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.


Assuntos
Sistema Nervoso Central/fisiopatologia , Deficiência Intelectual/genética , Osteogênese Imperfeita/genética , Proteína Wnt1/genética , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/fisiopatologia , Sistema Nervoso Central/anormalidades , Sistema Nervoso Central/diagnóstico por imagem , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/fisiopatologia , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/fisiopatologia , Mutação , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/fisiopatologia , Pamidronato/administração & dosagem , Pamidronato/efeitos adversos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...