RESUMO
Introdução: A Displasia de Desenvolvimento do Quadril (DDQ) é uma condição que pode ocorrer durante o crescimento ou desenvolvimento embrionário, fetal e infantil. O diagnóstico precoce e o tratamento adequado são essenciais para evitar complicações futuras, como a osteoartrose. Atualmente, é estabelecido que o posicionamento pós-natal é um fator causal para a ocorrência da DDQ. Deste modo, o posicionamento pós-natal como no uso de dispositivos como "charutinhos" e "cangurus" influencia na incidência de DDQ. Promover a conscientização de profissionais de saúde e pais de recém-nascidos sobre estes cuidados pode contribuir para um desenvolvimento saudável do quadril e uma menor incidência de DDQ. Objetivo: Elaborar uma cartilha de conscientização a respeito de ações e cuidados com o quadril infantil a fim de diminuir a incidência de displasia do desenvolvimento do quadril em crianças. Método: Revisão da literatura pelos autores, com o objetivo de sistematizar o conteúdo relevante, de forma acessível e didática na forma de uma cartilha que será distribuída aos pais, responsáveis e profissionais de saúde que acompanham as crianças. Resultados: A elaboração da cartilha será estruturada em tópicos abrangendo explicações relacionadas a displasia do desenvolvimento de quadril em formato de textos e imagens de forma informative e acessível. Discussão: A implementação de políticas que conscientizem sobre as práticas adequadas relacionadas ao posicionamento do quadril das crianças poderá diminuir a incidência da DDQ, implicando na diminuição de casos de osteoartrose futuros secundários a esta doença. Isto poderá ter impacto positivo tanto na qualidade de vida e morbimortalidade futuros, como também nos custos de saúde relacionados a dor, locomoção e tratamentos definitivos para os quadris afetados. Conclusão: A conscientização a respeito dos cuidados com o quadril das crianças poderá resultar, além da diminuição da incidência de casos de DDQ, no aumento da adesão ambulatorial de pacientes e responsáveis; promoção de políticas e linhas de cuidados relacionados à prevenção da DDQ; conscientização de profissionais e responsáveis a respeito da DDQ; diminuição de custos relacionados a complicações de diagnósticos tardios da DDQ; possibilitar a realização de estudos futuros relacionadas a implementação das medidas propostas. Palavras-chave: Displasia do desenvolvimento dos quadris. Quadril. Ortopedia Pediátrica.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Ortopedia/organização & administração , Osteoartrite/prevenção & controle , Serviços Preventivos de Saúde/métodos , Conhecimentos, Atitudes e Prática em Saúde , Guia Informativo , Método Canguru/métodos , Quadril/anormalidades , Luxação Congênita de Quadril/prevenção & controleRESUMO
Introdução: A Displasia do Desenvolvimento do Quadril (DDQ) é uma doença caracterizada pela alteração anatômica durante a diferenciação embriológica do quadril ou durante o crescimento e desenvolvimento deste. O diagnóstico precoce tem grande importância na DDQ, pois logo que detectada qualquer anormalidade no quadril pediátrico, é possível uma intervenção precoce, a fim de realizar um tratamento não invasivo e de baixo custo. Ainda não existe um protocolo estabelecido de rastreio com ultrassonografia (USG) para a DDQ no Brasil. Objetivo: Implementar uma sistemática de rastreio universal para displasia do desenvolvimento dos quadris em um hospital público na cidade de São Paulo. Método: Foi realizada uma revisão da literatura a fim de justificar a importância da criação e estruturação de um Ambulatório Especializado em DDQ no Hospital do Servidor Público Municipal. Essa revisão buscou demonstrar os benefícios de um diagnóstico precoce. A partir disso, montou-se a estruturação do ambulatório. Serão acompanhados no ambulatório todos os recém-nascidos dependentes de servidores públicos municipais de São Paulo, de acordo com o protocolo estabelecido pela Instituição. Resultados: Foi proposto um modelo de atendimento envolvendo: exame físico e exames complementares, diagnóstico, tratamento conservador e/ou cirúrgico e seguimento dos pacientes. Conclusão: O atendimento do paciente portador de DDQ será centralizado. Isso inclui as etapas de diagnóstico, avaliação da evolução nos diferentes estágios do acompanhamento, tratamento com órteses específicas ou realização de cirurgias complementares. Toda a equipe multidisciplinar será composta por profissionais capacitados e treinados, em um ambiente único, o que evitará encaminhamentos. Palavras-chave: Displasia do desenvolvimento dos quadris. Ambulatório. Diagnóstico.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Recém-Nascido/crescimento & desenvolvimento , Protocolos Clínicos , Ultrassonografia , Instituições de Assistência Ambulatorial/organização & administração , Displasia do Desenvolvimento do Quadril/diagnóstico , Quadril/anormalidadesRESUMO
Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a novel TBX4 mutation c.1241C>T (p.P414L) was identified in a SPS family and series of studies were performed to evaluate the influences of TBX4 mutations (including c.1241C>T and two known mutations c.256G>C and c.743G>T). Results showed that mesenchymal stem cells (MSCs) with stable overexpression of either TBX4 wild-type (TBX4wt) or mutants (TBX4mt) were successfully generated. Immunofluorescence study revealed that both the overexpressed TBX4 wild-type and mutants were evenly expressed in the nucleus suggesting that these mutations do not alter the translocation of TBX4 into the nucleus. Interestingly, MSCs overexpression of TBX4mt exhibited reduced differentiation activities and decreased FGF10 expression. Chromatin immunoprecipitation (ChIP) study demonstrated that TBX4 mutants still could bind to the promoter of FGF10. However, dual luciferase reporter assay clarified that the binding efficiencies of TBX4 mutants to FGF10 promoter were reduced. Taken together, MSCs were firstly used to study the function of TBX4 mutations in this study and the results indicate that the reduced binding efficiencies of TBX4 mutants (TBX4mt) to the promoter of FGF10 result in the abnormal biological processes which provide important information for the pathogenesis of SPS.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Quadril/anormalidades , Ísquio/anormalidades , Mutação/genética , Patela/anormalidades , Proteínas com Domínio T/genética , Adulto , Doenças do Desenvolvimento Ósseo/patologia , Linhagem Celular , Feminino , Células HEK293 , Quadril/patologia , Humanos , Ísquio/patologia , Células-Tronco Mesenquimais/patologia , Patela/patologia , Regiões Promotoras Genéticas/genética , Fatores de Transcrição/genética , Adulto JovemRESUMO
Variants involving TBX4 are associated with a wide variety of disorders, including pulmonary arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome (SPS), lethal lung developmental disorders (LLDDs) in neonates, heart defects, and prenatally lethal posterior amelia with pelvic and pulmonary hypoplasia syndrome. The objective of our study was to elucidate the wide variable phenotypic expressivity and incomplete penetrance in a three-generation family with a truncating variant in TBX4. In addition to exome and genome sequencing analyses, a candidate noncoding regulatory single nucleotide variant (SNV) within the lung-specific TBX4 enhancer was functionally tested using an in vitro luciferase reporter assay. A heterozygous frameshift variant c.1112dup (p.Pro372Serfs*14) in TBX4 was identified in patients with mild interstitial lung disease (1), bronchiolitis obliterans (1), recurrent pneumothorax (1), ICPPS/SPS (1), LLDD (2), and in unaffected individuals (4). In two deceased neonates with LLDD, we identified a noncoding SNV rs62069651-C located in trans to the mutated TBX4 allele that reduced the TBX4 promoter activity by 63% in the reporter assay. Our findings provide a functional evidence for the recently reported model of complex compound inheritance in which both TBX4 coding and in trans noncoding hypomorphic variants in the lung-specific enhancer of TBX4 contribute to LLDD.
Assuntos
Pneumopatias , Anormalidades do Sistema Respiratório , Doenças do Desenvolvimento Ósseo , Quadril/anormalidades , Humanos , Recém-Nascido , Ísquio/anormalidades , Pulmão/anormalidades , Pneumopatias/genética , Patela/anormalidades , Proteínas com Domínio T/genéticaRESUMO
Abstract Objective To perform a retrospective and cross-sectional assessment to determine the pain and positional improvement of all patients with spastic cerebral palsy (CP) and severe hip deformity who underwent a McHale procedure in our center. A second objective was to analyze the potential complications from the procedure. Methods All consecutive patients treated between 1995 and 2017 were analyzed. Clinically, the patients should present pain on hip mobilization, difficulty in positioning for sitting and hygiene care, and medical records with complete data; functionally was assessed through the Gross Motor Function Classification System (GMFCS). In the preoperative radiographs, we analyzed the migration percentage (MP), the type of deformity according to the Melbourne Cerebral Palsy Hip Classification Scale (MCPHCS), and the type of deformity of the femoral head. After the surgery, we assessed the proximal migration of the proximal femoral fragment, implant changes and/or failure, and potential heterotopic ossification. The outcomes were reported as successful (D1) in patients presenting remission of pain, painless mobility, and improved positioning, or unsuccessful (D2) in those presenting procedural failure that required a new surgery. Results In total, 47 patients (53 hips) were treated. Functionally, 43 patients were classified as GMFCS V (91%), 3 as GMFCS IV patients (6%), and 1 as GMFCS III (2%). The mean age was 13 years and 2 months. The follow-up ranged from 1 year to 15 years and 4 months, with an average of 4 years and 8 months. A total of 36 patients (41 hips) presented successful (D1) outcomes after the McHale procedure, corresponding to 77% of our cases, whereas 11 (23%) cases had unsuccessful (D2) outcomes. Conclusion The McHale procedure is a treatment option for GMFCS IV and V, but we must be aware of the potential complications.
Resumo Objetivo Fazer uma avaliação retrospectiva e transversal quanto à melhora da dor e do posicionamento de todos os pacientes portadores de paralisia cerebral (PC) espástica com deformidade grave no quadril submetidos ao procedimento de McHale em nosso centro. Secundariamente, objetivou-se analisar as possíveis complicações do procedimento. Métodos Foram analisados todos os pacientes consecutivos tratados no período entre 1995 e 2017. Clinicamente, os pacientes deveriam apresentar dor à mobilização do quadril, dificuldade de posicionamento para se sentar e para os cuidados de higiene, e prontuário médico com dados completos; quanto ao grau de função motora, utilizou-se o Sistema de Classificação da Função Motora Grossa (Gross Motor Function Classification System, GMFCS, em inglês). A avaliação radiográfica no período pré-operatório analisou a porcentagem de migração (PM), o tipo de deformidade de acordo com a Escala de Classificação de Quadril na Paralisia Cerebral de Melbourne (Melbourne Cerebral Palsy Hip Classification Scale, MCPHS), e a deformidade da cabeça femoral. No período pós-operatório, analisaram-se a presença de migração proximal do fragmento do fêmur proximal, as alterações e/ou a falha do implante utilizado, e a possível ossificação heterotópica. Consideraram-se como desfechos: D1- satisfatório: remissão da dor, mobilidade indolor, melhora do posicionamento; e D2- insatisfatório: falha no procedimento, que necessitou de reabordagem cirúrgica. Resultados No total, 47 pacientes (53 quadris) foram tratados. Funcionalmente, quanto à classificação no GMFCS, 43 pacientes eram GMFCS V (91%), 3 pacientes eram GMFCS IV (6%), e 1 paciente era GMFCS III (2%). A média da idade foi de 13 anos e 2 meses. O tempo de seguimento variou de 1 ano a 15 anos e 4 meses, com média de 4 anos e 8 meses. Quanto ao desfecho da cirurgia de McHale, ele foi satifatório (D1) em 36 pacientes (41 quadris), perfazendo 77% dos nossos casos, e insatisfatório (D2) em 11 (23%) casos. Conclusão A cirurgia de McHale é uma opção no tratamento para os níveis IV e V, mas devemos estar alertas para as possíveis complicações.
Assuntos
Humanos , Masculino , Feminino , Período Pós-Operatório , Anormalidades Congênitas , Paralisia Cerebral , Estudos Retrospectivos , Quadril/anormalidades , Quadril/cirurgia , Espasticidade MuscularRESUMO
Follow-up imaging confirmed a clinical suspicion.
Assuntos
Virilha/anormalidades , Quadril/anormalidades , Osteíte Deformante/diagnóstico , Dor/etiologia , Idoso , Virilha/diagnóstico por imagem , Quadril/diagnóstico por imagem , Humanos , Masculino , Osteíte Deformante/diagnóstico por imagem , Dor/diagnóstico por imagem , Radiografia/métodosRESUMO
INTRODUCTION: TBX4 mutation causes small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown. METHODS: We report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a TBX4 mutation from the French pulmonary hypertension (PH) network. RESULTS: 20 patients were identified in 17 families. They were characterised by a median age at diagnosis of 29â years (0-76â years) and a female to male ratio of three. Most of the patients (70%) were in New York Heart Association (NYHA) functional class III or IV with a severe haemodynamic impairment (median pulmonary vascular resistance (PVR) of 13.6 (6.2-41.8) Wood units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity of the lung for carbon monoxide (D LCO) was decreased in all patients. High-resolution computed tomography (HRCT) showed bronchial abnormalities, peri-bronchial cysts, mosaic distribution and mediastinal lymphadenopathies. PAH therapy was associated with significant clinical improvement. At follow-up (median 76â months), two patients had died and two had undergone lung transplantation. One-year, three-year and five-year event-free survival rates were 100%, 94% and 83%, respectively. Histologic examination of explanted lungs revealed alveolar growth abnormalities, major pulmonary vascular remodelling similar to that observed in idiopathic pulmonary arterial hypertension (IPAH) and accumulation of cholesterol crystals within the lung parenchyma. CONCLUSION: PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Quadril/anormalidades , Ísquio/anormalidades , Mutação , Patela/anormalidades , Hipertensão Arterial Pulmonar/genética , Proteínas com Domínio T/genética , Adolescente , Adulto , Idoso , Doenças do Desenvolvimento Ósseo/complicações , Criança , Pré-Escolar , Feminino , França , Humanos , Lactente , Recém-Nascido , Transplante de Pulmão , Masculino , Pessoa de Meia-Idade , Fenótipo , Hipertensão Arterial Pulmonar/complicações , Hipertensão Arterial Pulmonar/epidemiologia , Estudos Retrospectivos , Taxa de Sobrevida , Resistência Vascular , Adulto JovemRESUMO
The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113∗ and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113∗ stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.
Assuntos
Anormalidades Múltiplas/etiologia , Doenças do Desenvolvimento Ósseo/etiologia , Ectromelia/etiologia , Quadril/anormalidades , Homozigoto , Ísquio/anormalidades , Mutação com Perda de Função , Pneumopatias/etiologia , Pulmão/anormalidades , Patela/anormalidades , Pelve/anormalidades , Proteínas com Domínio T/genética , Anormalidades Múltiplas/patologia , Adolescente , Doenças do Desenvolvimento Ósseo/patologia , Criança , Ectromelia/patologia , Feminino , Quadril/patologia , Humanos , Ísquio/patologia , Pulmão/patologia , Pneumopatias/patologia , Masculino , Patela/patologia , Linhagem , Pelve/patologia , PrognósticoRESUMO
Abstract Objective The purpose of the present paper is to compare the equivalence of the measurement of the alpha angle using the Ducroquet and cross-table lateral views. Methods We have recruited 90 patients, resulting in 95 hips. We have standardized the realization of the radiographic views. The incidence of the lateral cross-table views were takenwith 15° of internal rotation with the patient in the supine position, and the incidence of the Ducroquet viewswas standardizedwith the patient in the supine position,with 90° of flexion and 45° of abduction of the hip. The alpha angle wasmeasured in both lateral views, by two musculoskeletal radiologists. The measurements were performed in 2 different times: an initial evaluation andanother 4weeks afterwards. The t Student test was usedand calculated the intraclass correlation coefficient (ICC). Results We have found a good intraobserver correlation for both views in different times; there was no statistically significant difference between the measurements performed by the two views. However, the interobserver correlation was low. Conclusion In conclusion, the Ducroquet profile view is a good choice for the α angle measurement and can be used instead of the cross-table view.
Resumo Objetivo O objetivo do presente trabalho é comparar a equivalência da medida do ângulo alfa do quadril usando as incidências laterais de Ducroquet e de cross-table. Método Estudamos 90 pacientes, com um total de 95 quadris, e padronizamos a realização das radiografias conhecidas como "Ducroquet" e "cross-table." A incidência de perfil de cross-table foi realizada em 15° de rotação interna com o paciente em posição supina, e a incidência de perfil de Ducroquet foi padronizada com o paciente posicionado em decúbito dorsal, em 90° de flexão e 45° de abdução do quadril. O ângulo alfa foi medido em ambas as radiografias de perfil, por dois radiologistas especializados em afecções musculoesqueléticas. As medidas foram realizadas em 2 épocas diferentes: uma avaliação inicial e outra após 4 semanas. O teste t de Student foi utilizado e calculou o coeficiente de correlação intraclasse (CCI). Resultados Encontramos boa correlação intraobservador para ambas as incidências radiográficas em diferentes momentos. Não houve diferença estatisticamente significante entre as medidas feitas pelas duas visualizações. No entanto, a correlação interobservadores foi baixa. Conclusão A incidência radiográfica de perfil de Ducroquet é uma boa opção para a medida do ângulo alfa e pode ser usada ao invés da incidência radiográfica de perfil cross-table.
Assuntos
Humanos , Masculino , Feminino , Radiografia , Impacto Femoroacetabular , Quadril/anormalidades , Quadril/diagnóstico por imagemRESUMO
BACKGROUND: Follistatin-like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1. METHODS: In total, 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1), and congenital heart disease patients (54), of which 16 also had kyphoscoliosis, and 38 had valve abnormalities as their main diagnosis. Using qPCR, none of 69 patients showed copy number variations in FSTL1. The entire gene body, including microRNA-198 and three validated microRNA-binding sites, were analyzed using Sanger sequencing. RESULTS: No variants were found in the coding region. However, 8 intronic variants were identified that differed significantly in their minor allele frequency compared to controls. Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis. CONCLUSION: We conclude that pathogenic variants in FSTL1 are unlikely to be responsible for skeletal or atrioventricular valve anomalies in humans.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Displasia Campomélica/genética , Variações do Número de Cópias de DNA , Proteínas Relacionadas à Folistatina/genética , Doenças das Valvas Cardíacas/genética , Quadril/anormalidades , Ísquio/anormalidades , Cifose/genética , Patela/anormalidades , Polimorfismo de Nucleotídeo Único , Doenças do Desenvolvimento Ósseo/patologia , Displasia Campomélica/patologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Doenças das Valvas Cardíacas/patologia , Quadril/patologia , Humanos , Ísquio/patologia , Cifose/patologia , Patela/patologiaRESUMO
PURPOSE: The purpose of this study was to evaluate the greater than 2-year patient-reported outcomes (PROs) and patient satisfaction of patients who were treated with hip arthroscopy for snapping iliopsoas tendons that were painful with concomitant acetabular dysplasia and who underwent iliopsoas lengthening for symptomatic iliopsoas tendon snapping with concomitant capsular plication and treatment of hip impingement. Secondary measures included observation of the change in the Tönnis grade at greater than 2 years' follow-up. METHODS: Between July 2009 and December 2011, data on patients with a lateral center-edge angle (LCEA) of less than 25° (range, 19°-24°) who underwent hip arthroscopy with central-compartment iliopsoas fractional lengthening and capsular plication were prospectively collected and retrospectively reviewed. Interportal capsular repair was performed using between 2 and 5 simple sutures. Patients also underwent procedures to treat hip impingement pathology. All patients had preoperative and minimum 2-year postoperative PRO measures: modified Harris Hip Score, Hip Outcome Score-Activities of Daily Living subscale, Hip Outcome Score-Sports-Specific subscale, and Non-arthritic Hip Score. The visual analog scale score and patient satisfaction with surgery (from 0 to 10) were also collected. Radiographs were analyzed preoperatively and at latest follow-up to assess progression of the Tönnis grade. RESULTS: We analyzed 32 patients who met the inclusion criteria (30 female and 2 male patients; mean age, 25 years). The mean LCEA and anterior center-edge angle were 21.6° and 25.5°, respectively. Four patients required revision arthroscopy for labral retears. Among the 28 patients who did not undergo revision surgery, the modified Harris Hip Score, Hip Outcome Score-Activities of Daily Living subscale, Hip Outcome Score-Sports-Specific subscale, and Non-arthritic Hip Score improved from 68.7 to 83.5, from 64.9 to 86.6, from 71.6 to 86.7, and from 52.6 to 75.8, respectively (P < .001). The visual analog scale score improved from 5.6 preoperatively to 1.9 at latest follow-up (P < .001). The mean patient satisfaction rating was 8.0. There was no radiographic progression of the Tönnis grade at final follow-up. CONCLUSIONS: This study showed that patients with an LCEA of less than 25° and associated painful iliopsoas snapping can be treated by addressing concomitant pathology and performing central-compartment fractional lengthening of the iliopsoas tendon with concomitant capsular plication and have high satisfaction, improvement in PROs, and improved pain scores, without significant progression of osteoarthritis. LEVEL OF EVIDENCE: Level IV, case series.
Assuntos
Artroscopia/métodos , Quadril/anormalidades , Quadril/cirurgia , Medidas de Resultados Relatados pelo Paciente , Satisfação do Paciente , Tendões/cirurgia , Atividades Cotidianas , Adolescente , Adulto , Artralgia/etiologia , Artralgia/cirurgia , Feminino , Quadril/diagnóstico por imagem , Humanos , Masculino , Radiografia , Reoperação , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management. We review the clinical characteristics of these rare diseases, provide guidance to facilitate the diagnosis and discuss how the genes involved could affect patella development.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/genética , Patela/anormalidades , Alelos , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Diagnóstico Diferencial , Estudos de Associação Genética/métodos , Quadril/anormalidades , Humanos , Ísquio/anormalidades , Imagem Multimodal/métodos , Patela/diagnóstico por imagem , Fenótipo , SíndromeAssuntos
Doenças do Desenvolvimento Ósseo/genética , Luxação Congênita de Quadril/genética , Quadril/anormalidades , Ísquio/anormalidades , Patela/anormalidades , Proteínas com Domínio T/genética , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Criança , Pré-Escolar , Feminino , Quadril/fisiopatologia , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/epidemiologia , Luxação Congênita de Quadril/fisiopatologia , Humanos , Ísquio/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação , Patela/fisiopatologia , Linhagem , Fenótipo , Adulto JovemAssuntos
Doenças Ósseas Infecciosas/diagnóstico por imagem , Articulação do Quadril/diagnóstico por imagem , Quadril/diagnóstico por imagem , Artropatias/diagnóstico por imagem , Ultrassonografia/métodos , Quadril/anormalidades , Quadril/inervação , Articulação do Quadril/anormalidades , Articulação do Quadril/inervação , HumanosRESUMO
BACKGROUND: The natural history of femoroacetabular impingement (FAI) remains incompletely understood. In particular, there is limited documentation of joint damage in adolescent patients with limited range of motion (LROM) of the hip, which is commonly associated with FAI. PURPOSE: To evaluate changes in magnetic resonance imaging (MRI), radiographs, and clinical examinations over 5 years in a group of athletes from a wide variety of sports with asymptomatic LROM of the hip compared with matched controls. STUDY DESIGN: Cohort study (prognosis); Level of evidence, 2. METHODS: The authors screened 226 male and female athletes aged 12 to 18 years presenting for preparticipation sports physical examinations. Using a goniometer, we identified 13 participants with at least one hip having internal rotation <10° with the hip flexed to 90°. Overall, 21 of 26 hips (81%) had internal rotation <10°. These participants were age- and sex-matched to 13 controls with internal rotation >10°. At the time of enrollment, all participants were asymptomatic and underwent a complete hip examination and radiographic imaging with radiographs (anteroposterior [AP] and von Rosen views) and non-arthrogram MRI. Participants returned at 5-year follow-up and underwent repeat hip examinations, imaging (AP and lateral radiographs and non-arthrogram MRI), and hip function questionnaires. MRI scans were classified as "normal" versus "abnormal" based on the presence of any of 13 scored chondral, labral, or osseous abnormalities. Comparisons between the LROM group and control group were performed using generalized linear models (either linear, logistic, or log-binomial regression as appropriate for the outcome) with generalized estimating equations to account for the within-participant correlation due to patients having both hips included. Relative risk (RR) estimates are reported with 95% CIs. RESULTS: At the time of study enrollment, 16 of 26 hips (62%) in the LROM group had abnormal MRI findings within the acetabular labrum or cartilage compared with 8 of 26 hips (31%) in the control group (RR, 2.0; 95% CI, 0.95-4.2; P = .067). The mean alpha angle measured from radial MRI sequences was 58° in the LROM group versus 44° in the control group ( P < .0001). In the LROM group, 13 of 26 hips (50%) had a positive anterior impingement sign, whereas 0 of 26 hips (0%) had a positive anterior impingement sign in the control group. At 5-year follow-up, 18 of 19 hips (95%) in the LROM group had abnormal MRI findings compared with 14 of 26 hips (54%) in the control group (RR, 1.7; 95% CI, 1.1-2.7; P = .014). New or progressive findings were documented on MRI in 15 of 20 hips in the LROM group compared with 8 of 26 hips in the control group (RR, 2.4; 95% CI, 1.2-4.8; P = .011). Six of 22 hips (27%) in the LROM group progressed from Tönnis grade 0 to Tönnis grade 1 in degenerative changes, whereas all 26 hips in the control group remained at Tönnis grade 0 on hip radiographs. In the LROM group, 11 of 22 hips (50%) had a positive anterior impingement sign, whereas 1 of 26 hips (4%) had a positive anterior impingement sign in the control group. A cam deformity (alpha angle >55° on lateral radiographs) was present in 20 of 22 hips (91%) in the LROM group and 12 of 26 hips (46%) in the control group ( P = .0165). The following variables at baseline were associated with an increased risk of degenerative changes at 5-year follow-up for the entire cohort: decreased hip internal rotation, positive anterior impingement sign, decreased hip flexion, increased alpha angle, and presence of a cam lesion. CONCLUSION: At 5 years, young athletes with LROM of the hip showed increased progressive degenerative changes on MRI and radiographs compared with matched controls. Although the majority of these participants remained asymptomatic, those with features of FAI had radiographic findings consistent with early osteoarthritis. These outcomes suggest that more aggressive screening and counseling of young active patients may be helpful to prevent hip osteoarthritis in those with FAI.
Assuntos
Impacto Femoroacetabular/fisiopatologia , Quadril/anormalidades , Quadril/fisiopatologia , Osteoartrite do Quadril/fisiopatologia , Adolescente , Cartilagem Articular/diagnóstico por imagem , Cartilagem Articular/fisiopatologia , Criança , Feminino , Impacto Femoroacetabular/diagnóstico por imagem , Impacto Femoroacetabular/etiologia , Quadril/fisiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Quadril/etiologia , Exame Físico , Estudos Prospectivos , Radiografia , Amplitude de Movimento Articular , Rotação , EsportesRESUMO
INTRODUCTION: Osteopetrosis is a connective tissue disorder resulting from abnormally dense bone predisposing patients to fracture. The clinical pattern of fractures across time and space as well as suggestive radiographic findings usually raises diagnostic suspicion. Multiple genetic mutations resulting in dysfunctional osteoclasts have been implicated in the pathogenesis of osteopetrosis with variable inheritance patterns. In severe cases, usually inherited in an autosomal recessive pattern, the medullary cavity important in the production of normal blood cell progenitors is replaced by defective endochondral bone, leading to pancytopenia and consequential extramedullary hematopoiesis. MATERIALS AND METHODS: This is a case report from a patient presenting to Naval Medical Center San Diego, a large Military Treatment Facility constituting a regional referral center for Navy Medicine West and serving approximately 250,000 eligible patients with more than 6,200 military and civilian staff. The genetic analysis was performed by Connective Tissue Gene Tests (CTGT) using the CTGT Osteopetrosis NextGen sequencing panel, consisting of 13 genes associated with osteopetrosis. A literature review was performed using PUBMED and Google Scholar to identify information on osteopetrosis and mutation implications. RESULTS: We present a 19-year-old male with clinical osteopetrosis resulting from compound heterozygosity of several mutated alleles within the PLEKHM1 gene, which is important to endosomal and lysosomal vesicular function. To date, most mutations discovered involve genes coding for intracellular enzymes, like carbonic anhydrase, or cell surface transporters, such as the osteoclast H+-ATPase proton pump and the chloride channel, engaged in the acidification of bone at the interface of the osteoclastic ruffled border and the bone matrix. This case represents one of the few reports of inherited defects within the PLEKHM1 gene, resulting in defective osteoclastic ruffled border formation and consequential inadequate bone resorption. CONCLUSIONS: This patient's lack of hematologic deficiencies and survival into adulthood portend an improved long-term prognosis and may infer prognostic insight in future cases with similar genetic abnormalities. In patients presenting with skeletal abnormalities and pathologic fractures in early adulthood, the clinician should consider osteopetrosis as a potential explanatory mechanism. Genetic characterization can elucidate cellular pathophysiology and potentially guide treatment modalities. Patients are typically managed with lifestyle adjustments limiting traumatic fracture and antiresorptive medications, typified by the bisphosphonate class. Since osteoclasts derive from a hematopoietic precursor, the only definitive curative therapy present is hematopoietic stem cell transplant. In the future, novel genomic level modulation may confer the ability to correct underlying point mutations and spare individuals from the morbidity associated with bone marrow transplant.
Assuntos
Joelho/anormalidades , Osteopetrose/complicações , Osteopetrose/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Relacionadas à Autofagia , Quadril/anormalidades , Quadril/diagnóstico por imagem , Quadril/fisiopatologia , Humanos , Joelho/diagnóstico por imagem , Joelho/fisiopatologia , Masculino , Glicoproteínas de Membrana/genética , Osteopetrose/genética , Dor/etiologia , Adulto JovemRESUMO
The gemelli are deep muscles, which act together with the obturator internus muscle, stabilizing dynamically the hip joint. In the present article, a case of bilateral absence of both gemelli muscles in the pelvis of a female cadaver is described. A possible embryological explanation of this condition is discussed, besides its clinical and surgical importance.
Los gemelos son músculos profundos, que actúan junto al obturador interno estabilizando dinámicamente la articulación de cadera. En el presente artículo se describe un caso de ausencia bilateral de ambos músculos gemelos en la pelvis de un cadáver femenino. Se discute la posible explicación embriológica de esta condición y su importancia clínica y quirúrgica.
Assuntos
Humanos , Feminino , Variação Anatômica , Quadril/anormalidades , Músculo Esquelético/anormalidades , CadáverRESUMO
Objective To evaluate the effect of dynamic long leg casting in paediatric patients with developmental dysplasia of hip (DDH) diagnosed at 12-18 months. Methods The adductor tenotomy, closed reduction, and dynamic long leg casting method was adopted to treat paediatric patients with DDH. The hips were divided into four groups according to the Tonnis radiographic dislocation classification. Groups were also classified according to the baseline acetabular index (AI): 30°-35°, 36°-40°, and > 40°. The outcomes of the reductions were evaluated according to McKay's hip function criteria and Severin's radiological criteria. Results A total of 246 patients (339 hips) had complete follow-up data. After 3 months of orthosis fixation, the results were satisfactory in 264 hips (77.88%). Hip function was rated as 'excellent' or 'good' in 43 of 51 (84.31%) Tonnis type 1 hips, 125 of 155 (80.65%) type 2 hips, 70 of 90 (77.78%) type 3 hips, and 34 of 43 (79.07%) type 4 hips. The higher the baseline AI, the lower the rates of 'excellent' and 'good' hip function. Favourable radiological results (Severin types I and II) were found in 266 of 339 (78.47) hips. Conclusions Dynamic long leg casting is an effective method for treating patients with DDH aged 12-18 months at diagnosis.