Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.104
Filtrar
1.
BMJ Case Rep ; 14(4)2021 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-33820804

RESUMO

This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, maximally assisted in transitions and transfers, and unable to be positioned past 30° of backrest elevation. The patient underwent a bilateral Girdlestone procedure and had tailored progressive postoperative rehabilitation in both the inpatient and outpatient settings. The patient also continued to receive bisphosphonates during her preoperative and postoperative period, to improve bone stock and aid in relieving pain. Through the efforts of a team of physiatrists, geneticists and orthopaedic surgeons, the patient was able to achieve pain-free sitting, independent transitions and short-distance ambulation, which have allowed her to care for herself more effectively and return to her work and activities of daily living.


Assuntos
Fraturas do Quadril , Osteogênese Imperfeita , Atividades Cotidianas , Adulto , Difosfonatos , Feminino , Humanos , Pessoa de Meia-Idade , Osteogênese Imperfeita/complicações
2.
Artigo em Inglês | MEDLINE | ID: mdl-33374125

RESUMO

In this retrospective study, we aim to assess the safety and feasibility of adapting subtalar arthroereisis (SA) for type I osteogenesis imperfecta (OI) patients with symptomatic flatfoot. From December 2013 to January 2018, six type I OI patients (five girls and one boy, 12 feet) with symptomatic flexible flatfoot were treated with SA and the Vulpius procedure. All the patients were ambulatory and skeletally immature with failed conservative treatment and unsatisfactory life quality. The median age at the time of surgery was 10 years (range 5-11), and the median follow-up period was 55 months (range 33-83). All functional and radiographic parameters improved (p < 0.05) after the procedure at the latest follow-up. The median American Orthopaedic Foot and Ankle Society ankle-hindfoot scale improved from 68 (range 38-80) to 95 (range 71-97). All of the patients ambulated well without significant complications. The weight-bearing radiographs showed maintained correction of the tarsal bone alignment with intact bony surfaces adjacent to implants during the post-operative follow-up period. This is the very first study on symptomatic flatfoot in pediatric patients with type I OI. Our data suggest that SA is a potentially viable approach, as functional improvements and maintained radiographic correction without significant complication were observed.


Assuntos
Pé Chato , Osteogênese Imperfeita , Articulação Talocalcânea , Criança , Pré-Escolar , Feminino , Pé Chato/diagnóstico por imagem , Pé Chato/cirurgia , Seguimentos , Humanos , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/cirurgia , Estudos Retrospectivos , Articulação Talocalcânea/diagnóstico por imagem , Articulação Talocalcânea/cirurgia , Resultado do Tratamento
3.
Arch Osteoporos ; 15(1): 153, 2020 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-33009598

RESUMO

Respiratory insufficiency is the leading cause death in people with osteogenesis imperfecta (OI). Adults with OI reported that respiratory symptoms negatively impacted psychosocial wellbeing and limited daily physical activities, irrespective of OI type, age, stature, or scoliosis. The impact of respiratory status on quality of life in this population warrants further investigation. PURPOSE: Respiratory insufficiency is the leading cause of mortality in osteogenesis imperfecta (OI), a heterogeneous group of heritable connective tissue disorders characterized by fractures, bone fragility, and scoliosis. There is little research on how respiratory health influences daily life in this population. This study explores the relationship between respiratory function and quality of life in adults with OI. METHODS: One hundred fifty-seven adults with OI completed the St. George's Respiratory Questionnaire (SGRQ) and provided demographic and health information through REDCap. SGRQ scores were compared to reference scores for the general population, and comparisons were made between OI type, presence of scoliosis, stature, and other factors such as age or comorbidities. RESULTS: Average age was 45.87 years (range 19-81). Respondents scored worse on average (32 ± 23) than the normative data (6 ± 1). Those with type I OI scored better than those with type IV (p = 0.002) or type III (p = 0.024). Total scores correlated with age, activity level, assistive device use, and presence of pulmonary or cardiac comorbidities but did not correlate with stature or degree of scoliosis. CONCLUSION: Respiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.


Assuntos
Osteogênese Imperfeita/complicações , Qualidade de Vida/psicologia , Insuficiência Respiratória/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Exercício Físico , Humanos , Pessoa de Meia-Idade , Osteogênese Imperfeita/epidemiologia , Osteogênese Imperfeita/psicologia , Insuficiência Respiratória/epidemiologia , Inquéritos e Questionários , Adulto Jovem
4.
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
5.
Med. clín (Ed. impr.) ; 154(12): 512-518, jun. 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-195679

RESUMO

INTRODUCCIÓN: La osteogénesis imperfecta (OI) es una enfermedad genética heterogénea manifestada como fragilidad ósea y fracturas. PACIENTES Y MÉTODOS: Estudio descriptivo retrospectivo analizando características clínicas, genéticas y tratamiento de pacientes diagnosticados de OI (1989-2017) en el Hospital Universitario Miguel Servet, Zaragoza (Endocrinología Pediátrica y Reumatología). RESULTADOS: Incluidos 40 pacientes; 32,5% varones, 67,5% mujeres; 29 niños, 11 adultos. Media de fracturas al diagnóstico en OI leve 4,6±6,4 (edad media al diagnóstico 7,8±12,8años), en OI moderada 1,7±2,4 (edad media al diagnóstico 0,04±0,3años), en OI grave 3,7±2,1 y en OI muy grave 12,5±7,8, ambos grupos diagnosticados al nacimiento. Estudio genético en 32 pacientes, 25 con variante patogénica/probablemente patogénica, siendo COL1A1 el gen más frecuentemente afectado. En 7 pacientes no fue encontrada la variante responsable, 5 con confirmación diagnóstica (estudio bioquímico colágenoI). Tratamiento con bifosfonatos 19 pacientes; 7 asociando hormona de crecimiento. Los tratados con bifosfonatos han presentado mejoría clínica (reducción de dolor óseo y/o irritabilidad) y reducción del número de fracturas. CONCLUSIONES: El gen COL1A1 es el más frecuentemente afectado en nuestros pacientes. El tratamiento debe ser multidisciplinar y el uso de bifosfonatos proporciona mejoría


INTRODUCTION: Osteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures. PATIENTS AND METHODS: Retrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI. RESULTS: Forty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures. CONCLUSIONS: The COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adulto , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genética , Difosfonatos/administração & dosagem , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/complicações , Estudos Retrospectivos , Fraturas Ósseas/diagnóstico , Fraturas Ósseas/tratamento farmacológico
6.
BMC Musculoskelet Disord ; 21(1): 6, 2020 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-31900144

RESUMO

BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. METHODS: The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). RESULTS: Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. CONCLUSION: Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.


Assuntos
Telefone Celular , Fadiga/diagnóstico , Aplicativos Móveis , Osteogênese Imperfeita/diagnóstico , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Efeitos Psicossociais da Doença , Estudos Transversais , Fadiga/etiologia , Fadiga/fisiopatologia , Fadiga/psicologia , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/fisiopatologia , Osteogênese Imperfeita/psicologia , Projetos Piloto , Valor Preditivo dos Testes , Qualidade de Vida , Índice de Gravidade de Doença , Adulto Jovem
7.
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
8.
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
9.
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
11.
J Bone Miner Metab ; 38(1): 109-116, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31463628

RESUMO

Osteogenesis imperfecta (OI) is a connective tissue disease with bone fragility. Several studies have indicated that physical function in adult OI was correlated to the disease severity, but there have been no reports delineating the impact of the fracture characteristics and disease-specific complications on health-related quality of life (HRQoL). The purpose of this study is to clarify the factors impacted on HRQoL in adult OI patients. We conducted a cross-sectional study between July 2016 and March 2018 and sent a questionnaire regarding HRQoL using Short Form-36 (SF-36) to the OI patients at the age of 20 years or older who had a medical history of the investigators' institutions. The 40 patients completely answered the SF-36. Mental component summary and role/social component summary were unremarkable. Physical component summary (PCS) was significantly associated with z-score for height, teeth abnormality, and cardiopulmonary insufficiency (partial regression coefficient, 3.04, - 9.70, and - 11.35; p, < 0.001, 0.047, and 0.025, respectively). PCS was also significantly lower in the patients who had an initial fracture before the age of 2 years than those without occurrence of fractures until 2 years old (25.80 ± 17.15 versus 44.20 ± 16.54; p = 0.002), or those who had lower extremity fractures more than five times as compared with normal populations. Physical function was decreased in OI patients who had fractures before 2 years old, especially in lower extremity. Appropriate medical managements for cardiopulmonary insufficiency are required not only to maintain physical function but also to decrease mortality.


Assuntos
Fraturas Ósseas/complicações , Osteogênese Imperfeita/complicações , Qualidade de Vida , Atividades Cotidianas , Adulto , Estudos Transversais , Feminino , Fraturas Ósseas/epidemiologia , Humanos , Modelos Lineares , Masculino , Inquéritos e Questionários
12.
Rev Med Chil ; 148(12): 1781-1786, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33844744

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss. AIM: To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI. MATERIAL AND METHODS: A prospective cohort study was completed. A clinical and diagnostic hearing evaluation with tympanometry, acoustic stapedial reflex, pure-tone and speech audiometry were performed. RESULTS: Thirty patients completed the study; mean age of 22 years (range 6-63 years). Sixty seven percent had a type I OI. Overall, nine (30%) patients had hearing loss (15/60 ears). Of these, six had bilateral hearing loss. Of the 15 affected ears, six showed conductive hearing loss, five sensorineural hearing loss, and four mixed hearing loss. Patients with hearing loss were older than patients with normal hearing. Only one pediatric patient developed hearing loss. Of the ears without hearing loss, 13% did not have an acoustic stapedial reflex. CONCLUSIONS: In this group of patients with OI, 30% had hearing loss and among those ears with normal hearing, 13% did not have an acoustic stapedial reflex. Patients with OI should be monitored for hearing loss.


Assuntos
Surdez , Perda Auditiva , Osteogênese Imperfeita , Adolescente , Adulto , Audiometria de Tons Puros , Criança , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Humanos , Pessoa de Meia-Idade , Osteogênese Imperfeita/complicações , Estudos Prospectivos , Adulto Jovem
13.
J Med Case Rep ; 13(1): 363, 2019 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-31822291

RESUMO

BACKGROUND: Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus. CASE PRESENTATION: We present a case of a 34-year-old, wheelchair-bound, primigravid African (Zimbabwean) patient with short stature and skeletal deformities. Her care, requiring a multidisciplinary team approach, resulted in the delivery of a live baby girl with a birth weight of 2100 g, also with osteogenesis imperfecta. CONCLUSION: Good outcomes are reported when a multidisciplinary team is involved in the care of patients with osteogenesis imperfecta. Pregnancies can be carried to term but require close antenatal surveillance. Prenatal diagnosis is possible with ultrasound and genetic testing. Delivery should be carefully planned by a multidisciplinary team. Decisions on delivery mode should be made on a case-by-case basis.


Assuntos
Osteogênese Imperfeita/complicações , Complicações na Gravidez , Gravidez de Alto Risco , Adulto , Cesárea , Feminino , Humanos , Recém-Nascido , Nascimento Vivo , Equipe de Assistência ao Paciente , Gravidez , Nascimento a Termo , Zimbábue/epidemiologia
14.
JBJS Case Connect ; 9(4): e0449, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31833977

RESUMO

CASE: We present 2 cases of femoral neck fracture (FNF) in patients with osteogenesis imperfecta (OI) with a previously placed intramedullary nail (IMN). Case 1: A 12-year-old girl who sustained a right FNF after spine surgery. Case 2: An 18-year-old boy who sustained a right FNF after IMN of the left side. Both patients underwent our modified surgical technique as described below. Both patients recovered well overall. CONCLUSIONS: FNF in patients with OI poses a significant challenge especially in the presence of an IMN. Here, we describe a surgical technique that provides stable fixation with a less stress riser effect by bypassing the screws and a previously placed nail.


Assuntos
Fraturas do Colo Femoral/cirurgia , Fixação Interna de Fraturas/métodos , Osteogênese Imperfeita/complicações , Adolescente , Criança , Feminino , Fraturas do Colo Femoral/complicações , Fixação Interna de Fraturas/instrumentação , Humanos , Masculino , Osteogênese Imperfeita/cirurgia
15.
Bol Med Hosp Infant Mex ; 76(6): 259-264, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31769437

RESUMO

Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes. Methods: A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018. Results: Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%). Conclusions: OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.


Assuntos
Osteogênese Imperfeita , Adolescente , Criança , Pré-Escolar , Feminino , Fraturas do Fêmur/epidemiologia , Fraturas Ósseas/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/epidemiologia , Osteogênese Imperfeita/genética , Linhagem , Fraturas do Rádio/epidemiologia , Venezuela/epidemiologia
16.
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
17.
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
19.
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
20.
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
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...