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1.
FP Essent ; 544: 12-19, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39283673

RESUMO

Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder with progressive proximal weakness as the principal sign. Glucocorticoids and physical therapy are the mainstay of treatment. Exercise intolerance is the hallmark of metabolic myopathies, which require a combination of laboratory testing, electrodiagnostic testing, and muscle biopsy for diagnosis. Joint hypermobility may be an isolated finding or be associated with hypermobility Ehlers-Danlos syndrome (EDS), other variants of EDS, or marfanoid syndromes. The latter conditions are associated with aortic and cardiac valvular abnormalities. Osteogenesis imperfecta encompasses a group of disorders characterized by bone fragility presenting with a low-impact fracture as a result of minimal trauma. Management includes multidiscipline specialists. Down syndrome (DS), or trisomy 21, is the most common chromosome abnormality identified in live births. Routine evaluation of atlantoaxial instability with x-ray is no longer recommended for children with DS without symptoms of atlantoaxial instability; however, clinical evaluation of symptoms is required for sports preparticipation. Achondroplasia is the most common skeletal dysplasia. Clinical signs are macrocephaly, short limb, short stature with disproportionately shorter humerus and femur, along with characteristic findings in pelvis and lumbar spine x-rays. Caregivers should be educated on proper positioning and handling to avoid complications, including car seat-related deaths.


Assuntos
Acondroplasia , Síndrome de Ehlers-Danlos , Osteogênese Imperfeita , Humanos , Criança , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Adolescente , Acondroplasia/diagnóstico , Acondroplasia/genética , Acondroplasia/terapia , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/terapia , Instabilidade Articular/diagnóstico , Instabilidade Articular/terapia , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/terapia , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/terapia , Síndrome de Marfan/complicações , Síndrome de Marfan/genética , Glucocorticoides/uso terapêutico , Modalidades de Fisioterapia
2.
Clin Sports Med ; 43(4): 567-574, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39232566

RESUMO

Shoulder glenohumeral joint dislocations and subluxations are a relatively common injury among athletic populations. Evaluating the patient both on the field initially and through early recovery helps to determine the best treatment strategies and predict the natural history of each unique injury.


Assuntos
Traumatismos em Atletas , Instabilidade Articular , Luxação do Ombro , Humanos , Instabilidade Articular/diagnóstico , Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/terapia , Luxação do Ombro/terapia , Luxação do Ombro/diagnóstico , Exame Físico , Articulação do Ombro/fisiopatologia , Lesões do Ombro
3.
Clin Sports Med ; 43(4): 585-599, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39232568

RESUMO

In-season management of anterior shoulder instability in athletes is a complex problem. Athletes often wish to play through their current season, though recurrent instability rates are high, particularly in contact sports. Athletes are generally considered safe to return to play when they are relatively pain-free, and their strength and range of motion match the uninjured extremity. If an athlete is unable to progress toward recovering strength and range of motion, surgical management is an option, though this is often a season-ending decision.


Assuntos
Traumatismos em Atletas , Instabilidade Articular , Volta ao Esporte , Humanos , Instabilidade Articular/cirurgia , Instabilidade Articular/fisiopatologia , Instabilidade Articular/diagnóstico , Traumatismos em Atletas/cirurgia , Traumatismos em Atletas/diagnóstico , Articulação do Ombro/fisiopatologia , Articulação do Ombro/cirurgia , Luxação do Ombro/cirurgia , Luxação do Ombro/diagnóstico , Luxação do Ombro/fisiopatologia , Lesões do Ombro , Amplitude de Movimento Articular , Tomada de Decisões , Atletas
4.
Clin Sports Med ; 43(4): 683-703, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39232574

RESUMO

Overhead athletes with anterior, posterior, and multidirectional shoulder instability present with a wide range of symptoms, especially considering the injury mechanism and affected supportive structures. As such, the management of shoulder instability is widely variable and relies on rehabilitation, operative management, and sport-specific considerations, such as positional and seasonal demands on the athlete. Biomechanical analysis may further aid in the recovery process or serve as a predictive tool to identify an increased risk for injury.


Assuntos
Traumatismos em Atletas , Instabilidade Articular , Lesões do Ombro , Articulação do Ombro , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/terapia , Traumatismos em Atletas/terapia , Traumatismos em Atletas/diagnóstico , Fenômenos Biomecânicos , Articulação do Ombro/fisiopatologia
5.
Rheumatol Int ; 44(11): 2273-2278, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39110211

RESUMO

Patients with joint-hypermobility and joint-hypermobility spectrum disorders (HSD), including hypermobile Ehlers-Danlos Syndromes (EDS) present numerous co-morbid concerns, and multidisciplinary care has been recommended. The complexity of these patient's needs and increased demand for medical services have resulted in long delays for diagnosis and treatment and exhausted extant clinical resources. Strategies must be considered to ensure patient needs are met in a timely fashion. This opinion piece discusses several potential models of care for joint-hypermobility disorders, several ways in which primary providers can be involved, and argues that primary providers should be an essential and integrated part of the management of these patients, in collaboration with multidisciplinary teams and pediatric subspecialists. We review several strategies and educational opportunities that may better incorporate primary providers into the care and management of these patients, and we also discuss some of the limitations and barriers that need to be addressed to improve provision of care. This includes establishing primary care physicians as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care, and collaboration and coordination with multi-disciplinary teams for more complex needs. Several barriers exist that may hamper these efforts, including a lack of available specialty trainings for providers interested in providing care to patients with EDS and HSD, a lack of expertly derived consensus guidelines, and limited time resources in extant primary care practices. Also, primary providers should have an active voice in the future for the further consideration and development of these presented strategies.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Equipe de Assistência ao Paciente , Atenção Primária à Saúde , Humanos , Síndrome de Ehlers-Danlos/terapia , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/terapia , Instabilidade Articular/diagnóstico
6.
Can Vet J ; 65(8): 781-790, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39091483

RESUMO

Objective: The aim of this study was to document perceived frequency of medial shoulder syndrome and instability (MSS/MSI) among dogs, and preferred diagnostic and treatment options related to the condition, among American or European Colleges of Veterinary Surgeons (ACVS/ECVS) diplomates, American College of Veterinary Sports Medicine and Rehabilitation (ACVSMR) diplomates, and dual diplomates of ACVS/ECVS and ACVSMR (double-Boarded diplomates). Procedure: An invitation to complete an online survey was sent to diplomates via email listservs. Results: The known response rate for the survey was 15.8% (160 of 1014 email addresses). There was a difference (P = 0.006) among groups in number of cases of MSS/MSI seen, with ACVS/ECVS diplomates and double-Boarded diplomates seeing 0 to 5 cases per year (80.7 and 72.7%, respectively) and ACVSMR diplomates (32% of total respondents) seeing 11 to 26+ cases annually. The majority of all respondents (56.4%) felt the likely cause of MSS/MSI to be chronic/repetitive strain. Diagnostically, most respondents (78%) relied on shoulder abduction angles; however, most felt it was a questionable or somewhat accurate diagnostic test. The ACVSMR diplomates (88%) relied on musculoskeletal ultrasound as their preferred diagnostic modality, compared to only 35% of ACVS/ECVS diplomates and 45% of double-Boarded diplomates. Preferred treatment was rehabilitation with surgery for unresponsive cases, as reported by 86.9% of all respondents. Preferred surgical treatment was prosthetic ligament reconstruction (62.7%). Conclusion: Despite the low known response rate of this survey, there were significant differences among specialties regarding frequency of MSS/MSI cases seen per year and preferred diagnostic modalities. However, there were no differences among specialties regarding the suspected underlying causes of MSS/MSI and initial treatment strategies.


Enquête en ligne sur le diagnostic et les recommandations thérapeutiques pour le syndrome et l'instabilité médiale de l'épaule chez le chien. Objectif: Le but de cette étude était de documenter la fréquence perçue du syndrome et de l'instabilité médiale de l'épaule (MSS/MSI) chez les chiens, ainsi que les options de diagnostic et de traitement préférées liées à cette maladie, parmi les spécialistes des collèges américains ou européens de chirurgiens vétérinaires (ACVS/ECVS), les spécialistes de l'American College of Veterinary Sports Medicine and Rehabilitation (ACVSMR) et les spécialistes doubles ACVS/ECVS et ACVSMR. Procédure: Une invitation à répondre à un sondage en ligne a été envoyée aux spécialistes via des listes de diffusion de courrier électronique. Résultats: Le taux de réponse connu pour l'enquête était de 15,8 % (160 sur 1 014 adresses courriel). Il y avait une différence (P = 0,006) entre les groupes dans le nombre de cas de MSS/MSI vus, les spécialistes de l'ACVS/ECVS et les spécialistes doubles voyant 0 à 5 cas par an (respectivement 80,7 et 72,7 %) et les spécialistes de l'ACVSMR (32 % du total des répondants) voient 11 à 26+ cas par an. La majorité de tous les répondants (56,4 %) ont estimé que la cause probable du MSS/MSI était une tension chronique/répétitive. Sur le plan diagnostique, la plupart des répondants (78 %) se sont appuyés sur les angles d'abduction de l'épaule; cependant, la plupart estimaient qu'il s'agissait d'un test diagnostique douteux ou quelque peu précis. Les spécialistes de l'ACVSMR (88 %) ont eu recours à l'échographie musculosquelettique comme modalité diagnostique privilégiée, contre seulement 35 % des spécialistes de l'ACVS/ECVS et 45 % des spécialistes doubles. Le traitement préféré était la réadaptation chirurgicale pour les cas qui ne répondaient pas, comme l'ont indiqué 86,9 % de tous les répondants. Le traitement chirurgical préféré était la reconstruction ligamentaire prothétique (62,7 %). Conclusion: Malgré le faible taux de réponse à cette enquête, il existe des différences significatives entre les spécialités concernant la fréquence des cas de MSS/MSI observés par an et les modalités de diagnostic préférées. Cependant, il n'y avait aucune différence entre les spécialités concernant les causes sous-jacentes suspectées de MSS/MSI et les stratégies de traitement initiales.(Traduit par Dr Serge Messier).


Assuntos
Doenças do Cão , Internet , Instabilidade Articular , Cães , Animais , Doenças do Cão/diagnóstico , Doenças do Cão/terapia , Doenças do Cão/cirurgia , Inquéritos e Questionários , Instabilidade Articular/veterinária , Instabilidade Articular/diagnóstico , Instabilidade Articular/cirurgia , Médicos Veterinários , Humanos , Medicina Veterinária
7.
R I Med J (2013) ; 107(9): 38-44, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39186401

RESUMO

BACKGROUND: Assessment of readability and reliability of online resources for orthopedic patients is an area of growing interest, but there is currently limited reporting on this topic for patellar instability (PI) and medial patellofemoral ligament reconstruction (MPFLR). METHODS: Utilizing the Searchresponse.io dataset, we analyzed inquiries related to PI and MPFLR. Readability and reliability were assessed using the Automated Reading Index, Flesch Reading Ease, and the JAMA benchmark criteria. RESULTS: Analysis of 363 frequently asked questions from 130 unique websites revealed a predominant interest in fact-based information. Readability assessments indicated that the average grade level of the resources was significantly higher than the 6th grade level and reliability varied between resources. CONCLUSION: Although the internet is an easily accessible resource, we demonstrate that PI and MPFLR resources are written at a significantly higher reading level than is recommended, and there is inconsistent reliability amongst resources with medical practice websites demonstrating the lowest reliability.


Assuntos
Compreensão , Internet , Instabilidade Articular , Humanos , Instabilidade Articular/diagnóstico , Reprodutibilidade dos Testes , Informação de Saúde ao Consumidor/normas , Articulação Patelofemoral
8.
Arch Orthop Trauma Surg ; 144(8): 3523-3532, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39105832

RESUMO

INTRODUCTION: To seek an optimal measurement method with high reliability and high validity for evaluation of the anterior knee laxity on stress radiographs and comparing the translation values to those of KT-2000 arthrometer. METHODS: Anterior knee laxity in 77 patients was measured preoperatively using the TelosTM and the KT-2000 arthrometer. Side-to-side difference measurements were taken using three conventional measuring methods and one proposed method (Modified Lateral). The knee position on the stress radiograph was evaluated and scored based on the stress radiograph qualifying criteria depending on stress film correctiveness. Intraclass correlation coefficients were analyzed to evaluate the reliability of the measurement methods and were compared between high (Group H) and low (Group L) radiograph quality score groups for each method. Validity was assessed by comparing the KT-2000 and the TelosTM using Pearson correlation (r value). RESULTS: The Modified Lateral method showed the best Intraclass Correlation Coefficients (ICCs), followed by Center to Center, and Medial to Medial and Lateral to Lateral methods without considering the quality of Telos. In the comparison between groups based on Telos quality for intra-rater reliability, the Medial to Medial (MM) method demonstrated the best reliability in both groups (MM: ICCs, Group H = 0.942, Group L = 0.917, P = 0.693). As for inter-rater reliability, the Modified Lateral (ML) method exhibited the best reliability in both groups (ML: ICCs, Group H = 0.923, Group L = 0.882, P = 0.547). The value measured using the ML method in Telos showed the highest correlation coefficient with the KT-2000 measured value in both groups H and L. There were no statistically significant differences among the correlation coefficient values. CONCLUSION: The Modified Lateral method is recommended for its high reliability, taking into account the differences in bilateral knee positions and anatomical discriminability on stress radiographs when evaluating anterior knee translation with Telos. It also best reflected the KT-2000 arthrometer. LEVEL OF EVIDENCE: Case Series, Level IV.


Assuntos
Lesões do Ligamento Cruzado Anterior , Instabilidade Articular , Humanos , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/diagnóstico , Reprodutibilidade dos Testes , Feminino , Lesões do Ligamento Cruzado Anterior/cirurgia , Lesões do Ligamento Cruzado Anterior/diagnóstico por imagem , Adulto , Masculino , Adulto Jovem , Pessoa de Meia-Idade , Articulação do Joelho/diagnóstico por imagem , Artrometria Articular/métodos , Adolescente , Radiografia/métodos
9.
Ophthalmic Genet ; 45(5): 476-480, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38957076

RESUMO

PURPOSE: To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous LOXL3 pathogenic variant. Atypically, this was from a paternal uniparental isodisomy (UPiD) of chromosome 2. CLINICAL CASE: Four-year-old boy with several months history of holding items close to his face was found to have reduced visual acuity 6/30 in both eyes, bilateral vitreous syneresis, foveal hypoplasia and bilateral high myopia (-8.50D). A skeletal survey showed spondylo-epi-metaphyseal dysplasia. Whole-exome sequencing (WES) revealed a homozygous LOXL3 variant c.1448_1449del, p.(Thr483Argfs*13), inherited through paternal UPiD of chromosome 2. CONCLUSION: To our knowledge, this is the first reported case of LOXL3-associated eoHM, foveal hypoplasia and mild skeletal dysplasia due to the rare phenomenon of paternal UPiD of chromosome 2. This case further delineates the phenotype associated with LOXL3 pathogenic variants and supports truncating LOXL3 pathogenic variants being associated with a phenotypic spectrum; from isolated eoHM through to a Stickler syndrome-like phenotype.


Assuntos
Aminoácido Oxirredutases , Artrite , Doenças do Tecido Conjuntivo , Fenótipo , Humanos , Masculino , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/patologia , Artrite/genética , Artrite/diagnóstico , Pré-Escolar , Aminoácido Oxirredutases/genética , Descolamento Retiniano/genética , Descolamento Retiniano/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Instabilidade Articular/genética , Instabilidade Articular/diagnóstico , Sequenciamento do Exoma , Linhagem , Mutação
10.
Clin Rheumatol ; 43(9): 3005-3017, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39085705

RESUMO

INTRODUCTION: Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are often accompanied by varied and complex multisystemic comorbid symptoms/conditions. The Spider questionnaire was developed to evaluate the presence and impact of eight common multisystemic comorbidities. Thirty-one questions across eight symptom domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. This study aimed to evaluate the Spider's construct validity in adults. METHOD: A cross-sectional observational study was conducted over four stages. Three international patient charities aided recruitment of participants through social media and website advertisements. Adults aged 18 to 65 years, with and without HSD/hEDS, were invited to participate. Validated, frequently used comparator questionnaires were used to establish convergent validity of Spider symptom domains. A control group was recruited for known-group validity analysis. Participants answered each Spider domain and the corresponding comparator questionnaire via surveys hosted by REDCap. Anonymous data were analysed using SPSS. Convergent validity was assessed through Spearman's correlational analysis and known-group validity through Mann-Whitney U analysis. RESULTS: A total of 11,151 participants were recruited across the four stages. Statistically significant, moderate-to-strong correlations were found between all Spider domains and their comparators (p < 0.001, r = 0.63 to 0.80). Known-group validity analysis showed statistically significant differences (p < 0.001) between the hypermobile and control groups in all eight domains. CONCLUSIONS: Convergent and known-group validity of the Spider was established with adults. These results suggest the Spider can measure the presence and impact of multisystemic comorbid symptoms/conditions in adults with HSD/hEDS, providing a tool which guides multidisciplinary management. Key Points • The Spider questionnaire is a novel tool assessing the presence and impact of the multisystemic comorbid symptoms/conditions associated with HSD/hEDS. • Convergent and known-group validity of the Spider questionnaire was established in adults aged 18 to 65. • This tool provides a quick and easy method to visualise the symptom profile of those with HSD/hEDS to guide symptom management.


Assuntos
Instabilidade Articular , Humanos , Adulto , Feminino , Inquéritos e Questionários , Pessoa de Meia-Idade , Estudos Transversais , Masculino , Adulto Jovem , Adolescente , Idoso , Reprodutibilidade dos Testes , Instabilidade Articular/diagnóstico , Instabilidade Articular/epidemiologia , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Fadiga/diagnóstico , Depressão/diagnóstico , Ansiedade/diagnóstico , Comorbidade , Disautonomias Primárias/diagnóstico
11.
Rev Med Suisse ; 20(882): 1329-1334, 2024 Jul 17.
Artigo em Francês | MEDLINE | ID: mdl-39021101

RESUMO

Posterior cruciate ligament (PCL) ruptures can cause severe knee instability and disability and thus, appropriate management is crucial for the successful restoration of patients' knee function. Rupture of the PCL can occur during sporting activity but more often, as a part of high-energy trauma. The diagnosis can be made using various clinical tests, such as the posterior drawer test or the quadriceps active test. MRI is the gold standard in imaging. PCL injuries can be classified from grade I to grade III, with increasing severity. Treatment can be conservative or surgical and should be personalized based on patients' demographic characteristics, grade of injury, level of instability, associated injuries and activity levels.


Les ruptures du ligament croisé postérieur (LCP) peuvent causer une instabilité sévère du genou et une incapacité importante, rendant ainsi une prise en charge appropriée cruciale pour le rétablissement d'une bonne fonction du genou. La rupture du LCP peut survenir lors d'une activité sportive, mais plus souvent, dans le cadre d'un traumatisme à haute énergie. Le diagnostic peut être posé à l'aide de différents tests cliniques, tels que le test du tiroir postérieur ou le test actif du quadriceps. L'IRM est l'examen de référence en imagerie. Les lésions du LCP peuvent être classées de grade I à III, avec une gravité croissante. Le traitement peut être conservateur ou chirurgical et doit être personnalisé en fonction des caractéristiques démographiques des patients, du grade de la lésion, du niveau d'instabilité, des lésions associées et des niveaux d'activité.


Assuntos
Traumatismos do Joelho , Ligamento Cruzado Posterior , Humanos , Ligamento Cruzado Posterior/lesões , Ruptura/diagnóstico , Traumatismos do Joelho/diagnóstico , Traumatismos do Joelho/terapia , Imageamento por Ressonância Magnética/métodos , Instabilidade Articular/diagnóstico , Instabilidade Articular/terapia , Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/terapia
12.
Yale J Biol Med ; 97(2): 225-238, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38947102

RESUMO

Joint hypermobility syndromes, particularly chronic pain associated with this condition, including Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD), present diagnostic challenges due to their multifactorial origins and remain poorly understood from biomechanical and genomic-molecular perspectives. Recent diagnostic guidelines have differentiated hEDS, HSD, and benign joint hypermobility, providing a more objective diagnostic framework. However, incorrect diagnoses and underdiagnoses persist, leading to prolonged journeys for affected individuals. Musculoskeletal manifestations, chronic pain, dysautonomia, and gastrointestinal symptoms illustrate the multifactorial impact of these conditions, affecting both the physical and emotional well-being of affected individuals. Infrared thermography (IRT) emerges as a promising tool for joint assessment, especially in detecting inflammatory processes. Thermal distribution patterns offer valuable insights into joint dysfunctions, although the direct correlation between pain and inflammation remains challenging. The prevalence of neuropathies among hypermobile individuals accentuates the discordance between pain perception and thermographic findings, further complicating diagnosis and management. Despite its potential, the clinical integration of IRT faces challenges, with conflicting evidence hindering its adoption. However, studies demonstrate objective temperature disparities between healthy and diseased joints, especially under dynamic thermography, suggesting its potential utility in clinical practice. Future research focused on refining diagnostic criteria and elucidating the underlying mechanisms of hypermobility syndromes will be essential to improve diagnostic accuracy and enhance patient care in this complex and multidimensional context.


Assuntos
Dor Crônica , Instabilidade Articular , Termografia , Humanos , Termografia/métodos , Instabilidade Articular/diagnóstico , Instabilidade Articular/fisiopatologia , Dor Crônica/diagnóstico , Dor Crônica/fisiopatologia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/fisiopatologia , Inflamação/diagnóstico , Raios Infravermelhos
13.
BMC Musculoskelet Disord ; 25(1): 560, 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39026247

RESUMO

BACKGROUND: For children with Osteogenesis Imperfecta (OI), a rare genetic bone disease, walking can be difficult to carry out due to a combination of bone fragility and deformity, muscle weakness, joint hypermobility, and pain. Bisphosphonate treatment has facilitated more children being able to walk, but for many, foot and ankle hypermobility is a limiting factor. Current evidence on foot orthoses in children with OI is sparse. This study aimed to evaluate gait characteristics in children with OI walking barefoot as compared to walking with foot orthoses. METHODS: Twenty-three children with OI and hypermobility (mean age 8.3 ± 3.0 years) were included in this cross-sectional study. Children conducted three-dimensional gait analysis barefoot, and with foot orthoses and appropriate foot wear (stable yet light-weight), respectively. Walking speed, step length, lower limb kinematics and kinetics were collected. Differences in gait characteristics between test conditions were evaluated using paired sample t-tests. RESULTS: When walking with foot orthoses, the external foot progression angle was reduced, peak ankle dorsiflexion angle increased, and peak plantarflexion moment increased as compared to barefoot. No difference was found in walking speed between test conditions, however, children with OI walked with longer steps with foot orthoses as compared to barefoot. CONCLUSION: The observed gait alterations suggest that foot orthoses, aiming to support the foot and ankle joint, contributed to reduced overall foot rotation as measured by external foot progression, increased peak plantarflexion moment, and increased step length. In a wider perspective, the ability to walk provides the opportunity to be physically active, and thereby increase skeletal loading and prevent fractures, thus, foot orthoses may be an important treatment option to consider in children with OI. LEVEL OF EVIDENCE: III.


Assuntos
Órtoses do Pé , Marcha , Osteogênese Imperfeita , Humanos , Osteogênese Imperfeita/terapia , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/fisiopatologia , Estudos Transversais , Criança , Feminino , Masculino , Fenômenos Biomecânicos , Pré-Escolar , Adolescente , Caminhada/fisiologia , Análise da Marcha , Instabilidade Articular/fisiopatologia , Instabilidade Articular/terapia , Instabilidade Articular/diagnóstico
14.
Int Orthop ; 48(9): 2311-2318, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38904764

RESUMO

PURPOSE: Lesions of the peroneal tendons are frequently overseen after ankle sprain. The symptoms consist of stress-dependent pain that extends from the inframalleolar to the proximal part along the course of the peroneal tendons as well as ankle instability and soft-tissue swelling. In case of unsuccessful conservative treatment, surgical therapy is recommended. The aim of the study was to evaluate the clinical and functional outcome after open reconstruction of the peroneus brevis tendon. METHODS: 13 patients were included in this retrospective study. All of them received a single reconstruction of the peroneus brevis tendon in open technique. Postoperative results were evaluated with the AOFAS score, a functional and perdobargraphic analysis as well as measuring postural stability with the Biodex balance system. The participants were matched with a healthy control group according to age, sex and BMI. RESULTS: The results of the AOFAS score showed significantly convincing results in all subscores postoperatively. A bilateral comparison of the postural stability showed that the affected side had become functionally similar to the healthy side. No statistical significant difference was detected concerning both one-legged and two-legged standing with the control group. Pedobarographic results revealed no difference between the affected and contralateral side, as well as between the patients and the healthy control group. CONCLUSION: Open reconstruction of the peroneus brevis tendon leads to significant better postoperative results and can be recommended after unsuccessful conservative treatment as promising option.


Assuntos
Traumatismos do Tornozelo , Equilíbrio Postural , Traumatismos dos Tendões , Humanos , Masculino , Feminino , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Traumatismos dos Tendões/cirurgia , Traumatismos dos Tendões/diagnóstico , Traumatismos dos Tendões/fisiopatologia , Equilíbrio Postural/fisiologia , Traumatismos do Tornozelo/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Adulto Jovem , Tendões/cirurgia , Resultado do Tratamento , Instabilidade Articular/cirurgia , Instabilidade Articular/diagnóstico , Articulação do Tornozelo/cirurgia , Articulação do Tornozelo/fisiopatologia
15.
J Tissue Viability ; 33(3): 458-464, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38862327

RESUMO

AIM: To develop a new tool for identifying joint hypermobility of the paediatric foot and ankle, based on a dichotomous scoring system utilising the Lower Limb Assessment Score (LLAS), to separate the foot and ankle items. MATERIAL AND METHODS: A total of 205 children, aged between 5 and 10 years, participated in a cross-sectional study. The new tool Foot and Ankle Flexibility Index (FAFI) was predicated upon the last 7 items of LLAS, which are specific to the foot and ankle. The internal consistency was measured with Cronbach's test. Kappa statistics with 95% CI were calculated to verify the level of inter-rater and intra-rater agreement for the FAFI. RESULTS: Cronbach's alpha returned 0.82. The correlations between items returned a mean of 0.59 (range: 0.43-0.74). The discrimination score on the ROC curve (4 points) showed that the model can be used to identify children with joint hypermobility of the foot and ankle. Inter-rater reliability was largely good (ICC = 0.89). Excellent intra-rater reliability was found (ICC = 0.96) CONCLUSIONS: This study identified high reliability between evaluators, and high sensitivity and specificity, for a new reliable and valid tool for the identification of foot and ankle joint hypermobility.


Assuntos
Psicometria , Humanos , Masculino , Feminino , Estudos Transversais , Criança , Reprodutibilidade dos Testes , Psicometria/métodos , Psicometria/instrumentação , Pré-Escolar , Instabilidade Articular/diagnóstico , Instabilidade Articular/fisiopatologia , Amplitude de Movimento Articular/fisiologia , Articulação do Tornozelo/fisiopatologia , Pé/fisiopatologia , Pé/fisiologia
16.
Childs Nerv Syst ; 40(9): 2843-2850, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38900291

RESUMO

The pediatric cervical spine is structurally and biomechanically unique in comparison to adults. Guidelines to assess for cervical spine instability and standard of care treatments in the pediatric population have yet to be delineated. This is due to the rarity of the condition and the lack of multicenter data published on the topic. Our review explores the biomechanics of the pediatric cervical spine and highlights evolving concepts/research over the last several decades, with special attention to the Down syndrome and complex Chiari malformation cohorts.


Assuntos
Vértebras Cervicais , Instabilidade Articular , Humanos , Vértebras Cervicais/diagnóstico por imagem , Instabilidade Articular/fisiopatologia , Instabilidade Articular/diagnóstico , Criança , Fenômenos Biomecânicos/fisiologia , Malformação de Arnold-Chiari/diagnóstico por imagem , Síndrome de Down/fisiopatologia
17.
Ophthalmol Retina ; 8(10): 1013-1020, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38750936

RESUMO

PURPOSE: To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome. DESIGN: Noncomparative case series. SUBJECTS: Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged. METHODS: Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence. MAIN OUTCOME MEASURES: The presence of PHOMS, clinical characteristics and genetic mutations. RESULTS: A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13-58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n = 20) of imaged eyes. Seventy percent (n = 14) were type 1 Stickler syndrome and 30% (n = 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360o prophylactic retinopexy. Thirty-two percent (n = 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n = 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n = 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation. CONCLUSIONS: These data suggest that PHOMS are a novel finding in Stickler syndrome patients and should be considered when evaluating the optic nerves of these patients. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Artrite , Doenças do Tecido Conjuntivo , Perda Auditiva Neurossensorial , Disco Óptico , Tomografia de Coerência Óptica , Humanos , Feminino , Masculino , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/complicações , Adolescente , Adulto , Adulto Jovem , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Disco Óptico/anormalidades , Disco Óptico/patologia , Perda Auditiva Neurossensorial/diagnóstico , Artrite/diagnóstico , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Angiofluoresceinografia/métodos , Colágeno Tipo XI/genética , Projetos Piloto , Fundo de Olho , Colágeno Tipo II/genética , Estudos Retrospectivos , Mutação
18.
Int Orthop ; 48(9): 2439-2443, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38772936

RESUMO

PURPOSE: Managing the distal tibiofibular (DTF) joint remains a challenge despite recent developments. Ankle arthroscopy is emerging as a diagnostic and therapeutic means. Our study aimed to compare preoperative imaging data and arthroscopic data, with the hypothesis that imaging alone is insufficient to evaluate acute laxity, and with arthroscopy as the reference examination. METHODS: All patients treated in 2023 in our department for an acute isolated DTF lesion were included prospectively. Preoperative radiographic and MRI imaging were compared with arthroscopic data. RESULTS: Ten patients were treated. For five patients, the instability was doubtful after carrying out an appropriate imaging assessment (X-rays of both ankles, MRI). For four of these five patients, instability was confirmed by arthroscopy. Arthroscopy was useful for suturing the anterior bundle of the DTF joint for two patients and allowed for verifying the reduction in the sagittal and coronal planes for two patients. No complications were detected. CONCLUSIONS: Arthroscopy in isolated acute DTF lesions seems to provide a diagnostic and therapeutic advantage. Its use may allow for exhaustive assessment and complete repair of lesions. It must be offered as soon as possible; a delay in specialized imaging may delay therapeutic care.


Assuntos
Articulação do Tornozelo , Artroscopia , Instabilidade Articular , Imageamento por Ressonância Magnética , Humanos , Artroscopia/métodos , Masculino , Feminino , Adulto , Articulação do Tornozelo/cirurgia , Articulação do Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/patologia , Imageamento por Ressonância Magnética/métodos , Instabilidade Articular/cirurgia , Instabilidade Articular/diagnóstico , Instabilidade Articular/diagnóstico por imagem , Estudos Prospectivos , Pessoa de Meia-Idade , Adulto Jovem , Traumatismos do Tornozelo/cirurgia , Traumatismos do Tornozelo/diagnóstico , Traumatismos do Tornozelo/diagnóstico por imagem , Fíbula/cirurgia , Fíbula/diagnóstico por imagem , Resultado do Tratamento , Radiografia/métodos , Adolescente , Tíbia/cirurgia , Tíbia/diagnóstico por imagem , Tíbia/patologia
19.
BMC Musculoskelet Disord ; 25(1): 347, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38693507

RESUMO

BACKGROUND: Benign Joint Hypermobility Syndrome (BJHS) is a most common hereditary connective tissue disorders in children and adolescents. This study aimed to investigate the prevalence and subtypes of headache in children with BJHS. METHODS: This observational-analytical study was conducted in a case-control setting on school children aged 7 to 16 years in 2021-2023 in Isfahan, Iran. Students were examined for BJHS using Beighton criteria by a pediatric rheumatologist. Headache disorder was diagnosed according to the Child Headache-Attributed Restriction, Disability, and Social Handicap and Impaired Participation (HARDSHIP) questionnaires for child and adolescent and International Classification of Headache Disorders (ICHD-III). RESULTS: A total of 4,832 student (mean age 10.3 ± 3.1 years), 798 patients with BJHS and 912 healthy children were evaluated. The probability of headache in children aged 7-11 with hypermobility was 3.7 times lower than in children aged 12-16 with hypermobility (P = 0.001). The occurrence of headache in children with BJHS was more than the control group (P = 0.001), and the probability of headache in children with BJHS was 3.7 times higher than in healthy children (P = 0.001). Migraine was the most common headache type reported of total cases. The probability of migraine in children with BJHS was 4.5 times higher than healthy children ( P = 0.001). CONCLUSION: This study showed a significant correlation between BJHS and headache (especially migraine) in children and adolescents.


Assuntos
Cefaleia , Instabilidade Articular , Instabilidade Articular/congênito , Humanos , Adolescente , Criança , Masculino , Feminino , Estudos de Casos e Controles , Irã (Geográfico)/epidemiologia , Instabilidade Articular/epidemiologia , Instabilidade Articular/diagnóstico , Instabilidade Articular/complicações , Prevalência , Cefaleia/epidemiologia , Cefaleia/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/complicações
20.
Clin Podiatr Med Surg ; 41(3): 491-502, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38789166

RESUMO

Syndesmotic ankle injuries, though rare in isolation, are complex destabilizing injuries often accompanied by fractures. Misdiagnoses, particularly overlooking posterior malleolus fractures, are common in ankle sprains. Thorough physical examinations, emphasizing high fibular pain and anterior tibia palpation, aid in accurate diagnosis. Grading helps assess injury severity and guiding treatment. Initial imaging involves three ankle views, with stress radiographs enhancing accuracy. If conservative care fails, MRI reveals ligament and tendon damage. Physical therapy may suffice for functional instability; surgical intervention addresses mechanical instability. Syndesmotic fixation debates center on cortices, screw size, reduction methods, and optimal positioning.


Assuntos
Traumatismos do Tornozelo , Humanos , Traumatismos do Tornozelo/cirurgia , Traumatismos do Tornozelo/diagnóstico , Fixação Interna de Fraturas/métodos , Imageamento por Ressonância Magnética , Masculino , Fraturas do Tornozelo/cirurgia , Fraturas do Tornozelo/diagnóstico por imagem , Feminino , Instabilidade Articular/cirurgia , Instabilidade Articular/etiologia , Instabilidade Articular/diagnóstico
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