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1.
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
2.
J Pediatr Orthop ; 40(1): 48-52, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31815862

RESUMO

BACKGROUND: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. We sought to evaluate the reliability of the modified RUST in the setting of the tibias of patients with OI. METHODS: Tibial radiographs of 30 patients with OI fractures, or osteotomies were scored by 3 observers on 2 separate occasions. Each of the 4 cortices was given a score (1=no callus, 2=callus present, 3=bridging callus, and 4=remodeled, fracture not visible) and the modified RUST is the sum of these scores (range, 4 to 16). The interobserver and intraobserver reliabilities were evaluated using intraclass coefficients (ICC) with 95% confidence intervals. RESULTS: The ICC representing the interobserver reliability for the first iteration of scores was 0.926 (0.864 to 0.962) and for the second series was 0.915 (0.845 to 0.957). The ICCs representing the intraobserver reliability for each of the 3 reviewers for the measurements in series 1 and 2 were 0.860 (0.707 to 0.934), 0.994 (0.986 to 0.997), and 0.974 (0.946 to 0.988). CONCLUSIONS: The modified RUST has excellent interobserver and intraobserver reliability in the setting of OI despite challenges related to the poor quality of the bone and its dysplastic nature. The application and routine use of the modified RUST in the OI population will help standardize our evaluation of osteotomy and fracture healing. LEVEL OF EVIDENCE: Level III-retrospective study of nonconsecutive patients.


Assuntos
Consolidação da Fratura , Osteogênese Imperfeita/fisiopatologia , Fraturas da Tíbia/diagnóstico por imagem , Adolescente , Pré-Escolar , Feminino , Humanos , Variações Dependentes do Observador , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/cirurgia , Osteotomia , Radiografia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fraturas da Tíbia/etiologia , Fraturas da Tíbia/cirurgia , Adulto Jovem
3.
Pediatr Clin North Am ; 67(1): 23-43, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31779835

RESUMO

A wide of array of patients with genetic and metabolic conditions present with orthopedic manifestations. This article discusses the most common conditions seen in a typical pediatric orthopedic practice. A few pearls are highlighted for each condition to alert practitioners to some of the pitfalls encountered when treating these often highly challenged children.


Assuntos
Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/etiologia , Acondroplasia/complicações , Criança , Síndrome de Down/complicações , Síndrome de Ehlers-Danlos/complicações , Doenças Genéticas Inatas/complicações , Humanos , Síndrome de Marfan/complicações , Doenças Metabólicas/complicações , Mucopolissacaridoses/complicações , Distrofia Muscular de Duchenne/complicações , Osteocondrodisplasias/complicações , Osteogênese Imperfeita/complicações , Fenótipo , Raquitismo/complicações
4.
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
5.
Acta Ortop Mex ; 33(2): 63-66, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31480105

RESUMO

INTRODUCTION: Osteogenesis imperfeta (OI) is defined as a heterogeneous group of hereditary diseases, which present with the presence of bone fragility, frequent fractures, bone deformities and short stature. Treatment with biphosfonates in patients with diagnosis of OI has shown a decrease in the frecuency of fractures, as well as an improvement in vertebral bone density. There is little evidence on quality of life in patients diagnosed with OI treated with bisphosphonates, Therefore this study evaluated the quality of life of patients diagnosed with OI after treatment with bisphosphonates. MATERIAL AND METHODS: It is a prospective, deliberate intervention, self-controlled clinical trial. Nine patients with ages between two and thirteen ages and diagnosed with OI were treated with Zolendronic, a quality of life measurement was performed in the patients before and after the application. For measuring the quality of life in the patients we used the PedsQL 4.0 quality of life survey that was applied to both children and parents. RESULTS: In the quality of life survey performed on the parents, an increase was observed in the four dimensions evaluated. In the survey made on the children two dimensions showed a significant increase. The number of fractures decreased after the treatment. CONCLUSIONS: There is a correlation between the decrease in the number of fractures and the perception that both parents and children have in the quality of life after treatment with bisphosphonates.


Assuntos
Conservadores da Densidade Óssea , Difosfonatos , Osteogênese Imperfeita , Qualidade de Vida , Adolescente , Conservadores da Densidade Óssea/uso terapêutico , Criança , Pré-Escolar , Difosfonatos/uso terapêutico , Humanos , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/tratamento farmacológico , Estudos Prospectivos
6.
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
7.
J Pediatr Orthop ; 39(8): e641-e646, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31393309

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complications that impact normal gait. As such, mobility is of particular interest in the OI population as it is associated with multiple aspects of participation and quality of life. The purpose of the current study was to identify and describe common gait deviations in a large sample of individuals with type I OI and speculate the etiology with a goal of improving function. METHODS: Gait analysis was performed on 44 subjects with type I (11.7±3.08 y old) and 30 typically developing controls (9.54±3.1 y old ). Spatial temporal, kinematic, and kinetic gait data were calculated from the Vicon Plug-in-Gait Model. Musculoskeletal modeling of the muscle tendon lengths (MTL) was done in OpenSim 3.3 to evaluate the MTL of the gastrocnemius and gluteus maximus. The gait deviation index, a dimensionless parameter that evaluates the deviation of 9 kinematic gait parameters from a control database, was also calculated. RESULTS: Walking speed, single support time, stride, and step length were lower and double support time was higher in the OI group. The gait deviation index score was lower and external hip rotation angle was higher in the OI group. Peak hip flexor, knee extensor and ankle plantarflexor moments, and power generation at the ankle were lower in the OI group. MTL analysis revealed no significant length discrepancies between the OI group and the typically developing group. CONCLUSIONS: Together, these findings provide a comprehensive description of gait characteristics among a group of individuals with type I OI. Such data inform clinicians about specific gait deviations in this population allowing clinicians to recommend more focused interventions. LEVEL OF EVIDENCE: Level III-case-control study.


Assuntos
Análise da Marcha , Instabilidade Articular , Articulações/fisiopatologia , Osteogênese Imperfeita , Qualidade de Vida , Adolescente , Fenômenos Biomecânicos , Estudos de Casos e Controles , Criança , Feminino , Análise da Marcha/métodos , Análise da Marcha/estatística & dados numéricos , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/etiologia , Masculino , Músculo Esquelético/fisiopatologia , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/fisiopatologia , Osteogênese Imperfeita/psicologia , Amplitude de Movimento Articular , Velocidade de Caminhada
8.
Spine (Phila Pa 1976) ; 44(15): 1057-1063, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31335789

RESUMO

STUDY DESIGN: Retrospective clinical study of individuals with osteogenesis imperfecta (OI). OBJECTIVE: To assess the relationship between severity of scoliosis and pulmonary function, and to assess the relationship between restrictive lung disease and self-reported quality of life in individuals with OI. SUMMARY OF BACKGROUND DATA: OI is a heritable connective tissue disorder characterized by osteopenia and a predisposition to fracture. Respiratory insufficiency is a leading cause of mortality. Literature on pulmonary function in this population has shown a negative correlation between percent-predicted vital capacity and severity of scoliosis. However, it has been suggested that decreased pulmonary function in OI may be due to intrinsic pulmonary disease, in addition to the impact of vertebral compression fractures and scoliosis. METHODS: Anterior-posterior spine radiographs and pulmonary function tests from 30 individuals with OI were reviewed. Radiographs were evaluated for scoliosis, defined as a curve ≥ 10°. If more than one curve was present, the largest curve was used. Pulmonary function was defined as the forced expiratory volume in 1 second (FEV1)/forced vital capacity (FVC) ratio. Restrictive pulmonary disease was defined as FEV1/FVC > 80%, while obstructive disease was defined as FEV1/FVC < 70%. Bivariate correlation analysis was performed, using Spearman rho correlation coefficient (P < 0.05). Quality of life was assessed by SF-36. RESULTS: The mean age was 27.6 years (range: 12-42 yrs). 57.6% were female. OI type IV was the most common (46.7%), followed by OI type III (33.3%), OI type I (10%), OI type IX (6.67% each), and OI type VIII (3.33%). Pulmonary comorbidity was present in 40% of individuals, while 6.67% had a cardiac comorbidity. The correlation between scoliosis and pulmonary function was weak and not significant (R = -0.059, P = 0.747). CONCLUSION: Pulmonary function is not significantly correlated with scoliosis, supporting the hypothesis that decreased pulmonary function is intrinsic to OI and/or chest wall deformities, rather than secondary to scoliosis. LEVEL OF EVIDENCE: 4.


Assuntos
Pneumopatias/etiologia , Osteogênese Imperfeita/complicações , Insuficiência Respiratória/etiologia , Escoliose/complicações , Escoliose/etiologia , Adolescente , Adulto , Criança , Feminino , Fraturas por Compressão/complicações , Humanos , Pulmão/fisiopatologia , Pneumopatias/fisiopatologia , Masculino , Qualidade de Vida , Radiografia , Testes de Função Respiratória , Insuficiência Respiratória/fisiopatologia , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Fraturas da Coluna Vertebral/complicações , Parede Torácica/fisiopatologia , Capacidade Vital , Adulto Jovem
9.
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
10.
Auris Nasus Larynx ; 46(6): 853-858, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31006558

RESUMO

OBJECTIVE: This is a retrospective study of hearing results and characteristics of osteogenesis imperfecta (OI) patients treated for hearing loss by stapedotomy at tertiary reference center. METHODS: This study enrolled 20 patients with a clinical diagnosis of OI- (11M:9F). 18 patients (90%) underwent surgery due to hearing loss in the period 2003-16. The audiometric analysis provides the pure tone audiometry results of stapedotomy in adult patients in 2 periods (≤12 months and >12 months). Air-bone gap (ABG), hearing gain (HG), and changes in air and bone conduction thresholds after surgical treatment were analyzed. RESULTS: In short-time follow-up we noted statistically significant improvement in mean AC thresholds and ABG (p < 0.001 for both), change in mean BC thresholds was statistically negligible. Comparing the observation periods short-term and long-term, it was found that AC thresholds, ABG, HG, ABG closure did not significantly change, although BC thresholds and BC closure deteriorated significantly (p < 0.05). CONCLUSION: Stapes surgery for OI can be considered as a method of treating the conductive and/or mixed hearing loss suffered by these patients; however, the surgery is more difficult than that for otosclerosis because OI cases often have extremely difficult anatomical conditions. The hearing results of OI stapes surgery differ from typical otosclerosis cases, with the ABG closure not being as good. In addition, sensorineural hearing loss inevitably progresses.


Assuntos
Perda Auditiva Condutiva/cirurgia , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Osteogênese Imperfeita/complicações , Cirurgia do Estribo , Adolescente , Adulto , Audiometria de Tons Puros , Condução Óssea , Feminino , Perda Auditiva Condutiva/etiologia , Perda Auditiva Condutiva-Neurossensorial Mista/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estribo , Resultado do Tratamento , Adulto Jovem
11.
Rev. med. Rosario ; 85(1): 27-33, ene.-abr. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1052937

RESUMO

La vertebroplastia percutánea es una técnica aplicable a pacientes con fractura vertebral con síndrome doloroso importante y que no mejora con un manejo ortopédico y clínico integral. Se incluye una apretada historia del procedimiento, y se revisan sus indicaciones y contraindicaciones, así como las publicaciones que analizan sus ventajas y riesgos (AU)


Percutaneous vertebroplasty is a technique for the treatment of patients with vertebral fracture who have persistent pain even after orthopedic and clinical therapeutic measures. A brief historical note of the procedure is presented, and its indications and contraindications are outlined, along with a literature overview of its advantages and risks (AU)


Assuntos
Feminino , Idoso , Fraturas da Coluna Vertebral/terapia , Vertebroplastia/história , Vertebroplastia/métodos , Osteogênese Imperfeita/complicações , Osteoporose/complicações , Vertebroplastia/efeitos adversos
12.
Injury ; 50 Suppl 2: S52-S56, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30827706

RESUMO

INTRODUCTION: Patients with Osteogenesis Imperfecta (OI) Type 3 may exhibit both primitive deformities and secondary fracture malunions on a femoral level. The orthopaedic surgeon's objective is to cure the deformities in order to prevent fractures and to treat the fractures in order to prevent deformities, by using telescopic nails as the gold standard method of fixation. However, the titanium elastic nail (TEN) is indicated as a possible alternative in certain selected cases. MATERIALS AND METHODS: The Centre for Congenital Osteodystrophy of the Sapienza University of Rome follows 485 patients with osteogenesis imperfecta. For the purpose of this study, we selected 36 patients with OI type 3 (15 females and 21 males), aged between 2 and 10 years old, who were surgically treated for femur fractures with Titanium Elastic Nail (TEN) from January 2007 to December 2009. In 12 cases a single TEN was implanted, while 24 of the cases were treated by implanting 2 TENs with the Sliding Nail (SN) technique. A retrospective evaluation was carried out by analysing the data from the medical charts and dossiers related to pain symptoms, knee and hip Range of Motion (ROM), any possible complications that could cause implant revisions (infections, nail slide failure, nail migration, traumatic events following surgery, delayed consolidation, epiphysiodesis). RESULTS: At the 60th post-surgical month, the revision rate was 75%, mostly due to migration, osteolysis, nail slide failure and nail fracture. The Kaplan-Meier's survival curve analysis showed a coefficient of 0.25-60 months (confidence interval -0.31 and 0.81). DISCUSSION: The percentage of complications and the high rate of revisions recorded in our sample confirm that telescopic nail is the gold standard in the treatment of femoral fractures in patients with OI type 3. CONCLUSIONS: In patients under the age of 4, with narrow medullary canals, low life expectancy, few to nil rehabilitative prospectives or severe comorbidities, the use of TEN may be considered as a less invasive approach compared to telescopic nail surgery, however only temporarily, as it will still most probably require a surgical revision a few years down the line.


Assuntos
Fraturas do Fêmur/cirurgia , Fêmur/anormalidades , Fixação Intramedular de Fraturas/instrumentação , Consolidação da Fratura/fisiologia , Osteogênese Imperfeita/cirurgia , Pinos Ortopédicos , Criança , Pré-Escolar , Feminino , Fraturas do Fêmur/etiologia , Fraturas do Fêmur/fisiopatologia , Fêmur/cirurgia , Guias como Assunto , Humanos , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/fisiopatologia , Reoperação , Estudos Retrospectivos , Resultado do Tratamento
13.
Spec Care Dentist ; 39(2): 214-219, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30758072

RESUMO

OBJECTIVE: Dentinogenesis Imperfecta (DI) forms a group of dental abnormalities frequently found associated with Osteogenesis Imperfecta (OI), a hereditary disease characterized by bone fragility. The objectives of this study were to quantify the dental caries prevalence and experience among different OI-types in the sample population and quantify how much these values change for the subset with DI. METHODS: To determine which clinical characteristics were associated with increased Caries Prevalence and Experience (CPE) in patients with OI, the adjusted DFT scores were used to account for frequent hypodontia, impacted teeth and retained teeth in OI population. For each variable measured, frequency distributions, means, proportions and standard deviations were generated. Groups means were analyzed by the unpaired t-test or ANOVA as appropriate. For multivariate analysis, subjects with caries experience of zero were compared with those with caries experience greater than zero using logistic regression. RESULTS: The stepwise regression analysis while controlling for all other variables demonstrated the presence of DI (OR 2.43; CI 1.37-4.32; P = 0.002) as the significant independent predictor of CPE in the final model. CONCLUSION: This study found no evidence that CPE of OI subjects differs between the types of OI. The presence of DI when controlled for other factors was found to be the significant predictor of CPE.


Assuntos
Cárie Dentária/epidemiologia , Osteogênese Imperfeita/complicações , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
14.
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
15.
J Pediatr Orthop ; 39(7): e558-e562, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30628974

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a hereditary disorder characterized by an abnormality of the quality or quantity of type I collagen, leading to bone fragility. Fractures in children with OI may result from minor trauma and have atypical patterns. Previous studies have found a strong relationship between olecranon fractures and OI in pediatric populations, but the characteristics of olecranon fractures within the OI patient population have not been fully described. METHODS: We reviewed the records of 358 children with a diagnosis of OI. Of those, 29 had at least 1 olecranon fracture. We collected general information relating to the patient's diagnosis of OI including OI type, fracture history, mobility, and bisphosphonate treatment. Information regarding the fracture, treatment, and the occurrence of bilateral fractures were recorded, as well as weight, height, and axial bone mineral density z-score from the time of the fracture. RESULTS: Within our OI population of 358 patients, we found an incidence of olecranon fracture of 8.1% (29 patients). The olecranon fractures occurred predominantly in the type I population (27 of 29). Within the population of patients specifically with OI type I (200 patients) the incidence is 13.5%, with 6% of OI type I patients sustaining bilateral olecranon fractures. The percentage of children with one olecranon fracture subsequently sustaining another on the contralateral side was 41.4%. The mean time to the second fracture was 5 months. The mean age at the time of the first olecranon fracture was 11.9 years old. The average axial bone mineral density z-score was -2.5 for primary fractures. All 12 patients who suffered a contralateral olecranon fracture had OI type I. CONCLUSIONS: Olecranon fractures in the OI population occur most commonly in patients with type I OI and during early adolescence, a period of rapid growth. There is a high rate of bilateral olecranon fractures, with the contralateral fracture occurring quickly after the primary fracture. Further studies may elucidate risk factors to determine which patients are most likely to fracture the contralateral side and therefore drive treatment and potentially prevention. LEVEL OF EVIDENCE: Level IV-retrospective cohort study.


Assuntos
Articulação do Cotovelo/lesões , Olécrano/lesões , Osteogênese Imperfeita/complicações , Fraturas da Ulna/etiologia , Adolescente , Densidade Óssea , Chicago/epidemiologia , Criança , Colágeno Tipo I , Difosfonatos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Fraturas da Ulna/epidemiologia , Adulto Jovem
16.
Anthropol Anz ; 76(1): 15-28, 2019 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-30648187

RESUMO

Growth references are used worldwide. The objective of monitoring growth of apparently healthy children is to identify treatable diseases early. Children with compromised growth, e.g. due to genetic disease, are assessed and compared to common growth references based on healthy children. But children with genetic diseases often fulfil the most referral criteria for further evaluation already due to their underlying disease. So, only the height deflection criteria (excessive decrease in height Z-score over time) seem reasonable in these children. But it is unclear whether one should expect these children to follow the standard growth references. The aim of the study was to develop a tool for evaluating the applicability of common growth standards for growth monitoring of children with specific genetic disease. We introduced the percentile parallelism test (PPT). This novel test assesses whether a height deflection is to be expected due to the underlying specific genetic disease, or if it is a sign of an additional disease. For illustration, the PPT was applied to a cohort of boys (n = 28, age 2-16 years) with osteogenesis imperfecta type IV. Boys with osteogenesis imperfecta showed a significant (p = 0.001) higher variability of their age specific height distribution than their healthy peers. Therefore, the commonly proposed cutoffs for the height deflection criteria had to be adjusted by the factor of 1.342 (95%CI 1.337-1.347). The PPT might improve the growth monitoring of children with genetic diseases, preventing them from unnecessary diagnostics.


Assuntos
Estatura , Gráficos de Crescimento , Osteogênese Imperfeita , Índice de Massa Corporal , Peso Corporal , Criança , Humanos , Masculino , Osteogênese Imperfeita/complicações
17.
A A Pract ; 13(1): 7-9, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30694815

RESUMO

We describe the management of a pregnant patient with osteogenesis imperfecta with a history of numerous fractures, severe scoliosis, and anticipated difficult airway. Her pregnancy was complicated by progressive shortness of breath and a fetal diagnosis of osteogenesis imperfecta. Spine anatomy precluded neuraxial anesthesia. Cesarean delivery was performed under general anesthesia at 34 weeks. Immediately after awake fiberoptic intubation and induction of general anesthesia, capnography waveform was lost with rapid profound oxygen desaturation. A supraglottic airway device was placed, oxygenation maintained with supraglottic airway and positive pressure ventilation throughout case, and the baby was delivered with Apgars of 8 and 9.


Assuntos
Cesárea/métodos , Intubação Intratraqueal/instrumentação , Osteogênese Imperfeita/terapia , Adulto , Anestesia Geral , Feminino , Tecnologia de Fibra Óptica , Humanos , Osteogênese Imperfeita/complicações , Gravidez
18.
Eur J Pediatr ; 178(3): 323-329, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30499050

RESUMO

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Bone mineral density (BMD) in OPPG patients was assessed by dual-energy X-ray absorptiometry (DXA). Genotyping of LRP5 gene and targeted detection of index mutation were performed by DNA direct sequencing. Four patients were introduced to bisphosphonates. Mutational screening of LRP5 gene revealed the c.2409_2503+79del deletion in homozygous state, expected to result in a truncated protein. Among 44 members of the pedigree, 10 (22%) were identified homozygous and 34 (59%) heterozygous for this mutation. All patients had congenital blindness and 7 of them had also impaired bone mineral density. Four of them received bisphosphonates and responded with decreased bone pain and improvement in BMD; however, 3 patients presented with one fracture during treatment.Conclusion: The current study presents the molecular and clinical profiles of 10 new OPPG cases, being part of an extended pedigree. Patients who received bisphosphonate treatment responded well with increase in their BMD, though fractures occurred during therapy. What is known: • OPPG syndrome is a rare genetic disorder characterized by congenital blindness and juvenile osteoporosis. • Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) is the genetic defect of the disease. What is new: • Genetic and clinical phenotype of 10 new OPPG patients. • The ten new OPPG patients presented with phenotypical variability in osseous manifestations.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Difosfonatos/uso terapêutico , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Osteogênese Imperfeita , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Seguimentos , Marcadores Genéticos , Técnicas de Genotipagem , Grécia , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/genética , Fraturas por Osteoporose/etiologia , Fraturas por Osteoporose/prevenção & controle , Linhagem , Fenótipo , Deleção de Sequência , Resultado do Tratamento
19.
Osteoporos Int ; 30(2): 507-511, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30191258

RESUMO

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bones. Our work underscores the need to include patient-reported outcomes in rare bone disease research. INTRODUCTION: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting collagen protein leading to brittle bones and a number of other medical complications. To date, there is limited research which examines the life-long process of aging with this rare disease, much less the perspective of individuals with OI. METHODS: In order to explore and prioritize health concerns that adults with OI feel have been inadequately addressed in health care and research, investigators held discussions with leaders from the global adult OI community. The meetings were held in August 2017 at the 13th International Conference on OI in Oslo, Norway as part of the preconference seminar "Patient Participation in OI Research". Investigators were part of the Brittle Bone Disease Consortium (BBDC), a multicenter research program devoted to the study of OI, and their focus was on patient-reported outcomes (PRO). RESULTS: Participants noted that while fractures and brittle bones are the most common feature of OI, a number of body systems are under-studied in this disorder. They particularly emphasized breathing, hearing, and the effects of aging as primary concerns that researchers and physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, and basilar invagination. Participants also emphasized that they must be informed of study results. They underscored that outcome measures incorporated into future drug trials must look beyond fractures and consider the whole patient. CONCLUSIONS: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Osteogênese Imperfeita/psicologia , Doenças Raras/psicologia , Adulto , Envelhecimento , Pesquisa Biomédica/métodos , Pesquisa Participativa Baseada na Comunidade/métodos , Feminino , Fraturas Espontâneas/etiologia , Fraturas Espontâneas/psicologia , Perda Auditiva/etiologia , Perda Auditiva/psicologia , Humanos , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/reabilitação , Medidas de Resultados Relatados pelo Paciente , Psicometria , Qualidade de Vida , Doenças Raras/complicações , Doenças Raras/reabilitação , Doenças Respiratórias/etiologia , Doenças Respiratórias/psicologia
20.
Am J Emerg Med ; 37(3): 561.e1-561.e2, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30470601

RESUMO

Mefenamic acid is a fenamate nonsteroidal anti-inflammatory (NSAI) drug, which is used for several years for pain management. However, it has been rarely reported that, mefenamic acid can induce central nervous system toxicity both in toxic doses and therapeutic usage. We report a case of a 27-year-old female who presented to the emergency department (ED) with altered mental status and vomiting. On admission to the ED, she was lethargic and disoriented. Her vital signs were normal and her physical examination was completely normal except dysarthric speech. The etiology of altered mental status was investigated with electrolyte levels, cranial computed tomography, cranial magnetic resonance imaging and EEG, however the results were normal. Her blood gas analysis revealed a deep metabolic acidosis with a pH of 7.14. Neither etiologic agent nor drug use history was provided at the presentation; she had only osteogenesis imperfecta since several years and she had been using various NSAI drugs. However, her relatives later stated that, she took mefenamic acid for her pains since two weeks. After her admission to intensive care unit, her neurologic state was improved gradually after plasmapheresis and she was discharged healthy. Although mefenamic acid has been considered as one of the safe NSAI drugs, its effects due to central nervous system toxicity should be cautiously handled.


Assuntos
Anti-Inflamatórios não Esteroides/envenenamento , Ácido Mefenâmico/envenenamento , Síndromes Neurotóxicas/etiologia , Adulto , Serviço Hospitalar de Emergência , Feminino , Humanos , Dor Musculoesquelética/tratamento farmacológico , Dor Musculoesquelética/etiologia , Osteogênese Imperfeita/complicações , Plasmaferese , Púrpura Trombocitopênica Trombótica/induzido quimicamente , Púrpura Trombocitopênica Trombótica/terapia
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