Reliability of Sachse’s mobility criteria in individuals of age 18-24 years

Background: The ability to obtain an efficient yet reliable measurement of mobility can be useful for evaluation as well as for documentation. The physiotherapists use different tools to assess each and every joints mobility. In the clinical setting assessing each joint is time consuming. Sachse’s mobility criteria is the mobility assessment tool which assess all major joints of body. It is an easy and quick to perform diagnostic tool. Hence, this study is intended to estimate reliability of Sachse’s mobility criteria in individuals of age 18-24 years as reliability is the prerequisite for validity.Objectives: To estimate the intra-rater and inter-rater reliability of Sachse’s mobility criteria in individuals of age 18-24 years.Methodology: 92 participants were selected according to inclusion and exclusion criteria. Anatomical landmarks were marked by the both the examiners and removed after each assessment. Examiner 1 assessed the participant and after the interval of 30 minutes examiner 2 assessed the sampicipant. Examiner 1 repeated the assessment after 7 days of 1st assessment to avoid recall bias. Data analysis done and interpretations were made.Results: Sachse’s mobility criteria showed good to excellent intra-rater and inter-rater reliability ICC= 0.904 and 0.853 respectively.Conclusion: Sachse’s mobility criteria showed good to excellent intra-rater and inter-rater reliability in individuals of age 18-24 years.

Impact of asymptomatic genu recurvatum on patellar mobility in young males / Impacto do genu recurvatum assintomático na mobilidade patelar em jovens do sexo masculino

BACKGROUND: Genu recurvatum is one of the most commonly presented lower extremity postural malalignments in individuals. Though genu recurvatum and its impact on impaired knee proprioception, anterior cruciate injuries and posterior soft tissue dysfunctions are reported, its association with patellar mobility is scarcely reported and warrants exploration. OBJECTIVES: To evaluate the medial and lateral patellar mobility differences in adult young males with genu recurvatum and normal knee alignment. METHODS: The ethical approval for this cross-sectional study protocol was obtained and the study was conducted in Research Department of Alva's College of Physiotherapy and Research Centre, Moodubidire, DK, Karnataka, India. The study participants were recruited through an institutional-based musculoskeletal and sports clinic. The estimated sample size for this study was 174. A total of 87 young males with genu recurvatum and 87 young males with normal knee alignment fulfilling the selection criteria were enrolled in two groups. Participants' knee joint was examined by an assessor and individuals with > 5° knee hyperextension were assigned to genu recurvatum group, and individuals with knee extension < 5° from neutral were assigned to the normal knee alignment group. Further, the patellar glide test was performed to examine the presence of patellar hypermobility in both groups. RESULTS: The mean age of the participants in genu recurvatum and normal knee alignment group was 22.04 + 1.860 and 21.91 + 1.869, respectively. A significant higher proportion (86.2%) of participants with genu recurvatum identified with patellar hypermobility compared to normal knee alignment. Within the genu recurvatum subjects, 66.66& and 19.54% were observed to have medial and lateral patellar hypermobility. The odds for occurrence of patellar hypermobility in genu recurvatum was estimated to be 13.007 (95%, CI, 5.481 ­ 30.866), respectively. CONCLUSION: The study result suggests that medial patellar hypermobility is more common in individuals with genu recurvatum. Further study investigating on the mechanism contributing towards medial patellar mobility in genu recurvatum populations could validate the present study findings.

INTRODUÇÃO: Genu recurvatum é um dos desalinhamento posturais dos membros inferiores mais comumente apresentado em indivíduos. Embora o genu recurvatum e seu impacto na propriocepção prejudicada do joelho, lesões cruzadas anteriores e disfunções dos tecidos moles posteriores sejam relatados, sua associação com a mobilidade patelar é pouco relatada e merece exploração. OBJETIVOS: Avaliar as diferenças de mobilidade patelar medial e lateral em homens adultos do sexo masculino com genu recurvatum e alinhamento normal do joelho. MÉTODOS: O protocolo do estudo foi explicado e a aprovação ética para o protocolo do estudo foi obtida e o estudo foi conduzido no Departamento de Pesquisa do Alva's College of Physiotherapy and Research Centre, Moodubidire, DK, Karnataka, India. Os participantes do estudo foram recrutados por meio de clínica musculoesquelética e esportiva de base institucional. O tamanho estimado da amostra para este estudo foi de 174. Um total de 87 jovens do sexo masculino com genu recurvatum e 87 jovens do sexo masculino com alinhamento normal do joelho foram incluídos em dois grupos. A articulação do joelho dos participantes foi examinada por um avaliador e os indivíduos com hiperextensão do joelho > 5° foram designados para o grupo Genu recurvatum, e os indivíduos com extensão do joelho < 5° do neutro foram designados para o grupo de alinhamento normal do joelho. Além disso, o teste de deslizamento patelar foi realizado para examinar a presença de hipermobilidade patelar. RESULTADOS: A média de idade dos participantes do grupo genu recurvatum e alinhamento normal do joelho foi 22,04 + e 21,91 + 1,869, respectivamente. Uma proporção significativamente maior (86,2%) de participantes com genu recurvatum identificados com hipermobilidade patelar em comparação com indivíduos com alinhamento normal do joelho. Entre os indivíduos com genu recurvatum, observou-se que 66,66% e 19,54% apresentavam hipermobilidade patelar medial e lateral. Entre aqueles com alinhamento normal do joelho, 44,83% apresentaram hipermobilidade patelar. A razão de chances para ocorrência de hipermobilidade patelar no genu recurvatum foi estimada em 13,007 (95%, IC, 5,481 ­ 30,866), respectivamente. CONCLUSÃO: O resultado do estudo sugere que a hipermobilidade patelar medial é mais comum em indivíduos com genu recurvatum. Um estudo mais aprofundado que investigue o mecanismo detalhado que contribui para a mobilidade patelar medial em populações de genu recurvatum poderia validar os resultados do presente estudo.

Adaptación cultural y confiabilidad del instrumento Five-part questionnaire on hypermobility al contexto peruano / Cultural adaptation and reliability of the instrument Five-part questionnaire on hypermobility to the Peruvian context

INTRODUCCIÓN: Para el diagnóstico de hiperlaxitud articular se emplea comúnmente el Test de Beighton que requiere de un profesional para la exploración física. Por su parte, el instrumento es una herramienta autoadministrada que permite identificar de forma temprana la presencia de hiperlaxitud articular. OBJETIVOS: Realizar la adaptación cultural y confiabilidad test-retest del instrumento The Five-part questionnaire on hypermobility al contexto peruano, por medio de la traducción al español, adaptación lingüística y verificación de la confiabilidad test--retest en estudiantes de 13 a 17 años y docentes/administrativos de 24 a 60 años. MÉTODOS: Se realizó una traducción-retrotraducción con dos traductores, dos retrotraductores y la adaptación lingüística con 10 expertos. Obtenida la versión adaptada del cuestionario, se aplicó un análisis de comprensibilidad a 50 sujetos. Finalmente se estimó la confiabilidad test-retest en dos grupos: en adolescentes de 13 a 17 años y en adultos de 24 a 60 años. RESULTADOS: Se obtuvo la versión traducida del cuestionario, el cual pasó por un proceso de adaptación lingüística donde 10 expertos realizaron un análisis de concordancia (Coeficiente V de Aiken = 1) y un análisis de comprensibilidad con una escala de 0 a 10 que obtuvo una media de 10 puntos. Posteriormente, esta versión fue retro traducida y cotejada con el original. En el análisis de confiabilidad, los resultados de la aplicación del test-retest encontraron una confiabilidad alta entre el puntaje total de ambas aplicaciones tanto para el grupo de 65 adultos (Kappa 0,795; intervalo de confianza al 95%: de 0,777 a 0,819) y el de 71 adolescentes (Kappa 0,946; intervalo de confianza al 95%: de 0,908 a 0,982). CONCLUSIONES: Se adaptó el instrumento traducido cuestionario corto al contexto cultural de Perú y se encontró alta confiabilidad para los grupos de estudio de 13 a 17 años y de 24 a 60 años. Se recomienda la validación concurrente para considerar su aplicación en clínica y en investigación.

INTRODUCTION: For the diagnosis of joint hypermobility, the Beighton test is commonly used; this requires a professional for the physical examination. The "Five- part questionnaire on hypermobility" is a self- administered tool that allows early identification of joint hypermobility. OBJECTIVE: To carry out the cultural adaptation and test- retest reliability of the "Five- part questionnaire on hypermobility" to the Peruvian context through translation into spanish, linguistic adaptation, and verification of test- retest reliability in students from 13 to 17 years of age and teachers/ad-ministrators from 24 to 60 years of age. METHODS: A translation and back- translation were performed with two translators and two back- translators, followed by a linguistic adaptation with ten experts. Once the adapted version of the question-naire was obtained, a comprehensibility analysis was carried out with 50 subjects. Finally, test- retest reliability was estimated in two groups: adolescents aged 13 to 17 and adults aged 24 to 60. RESULTS: The translated version of the questionnaire was obtained and underwent a linguistic adaptation process in which ten experts performed a concordance analysis (Aiken's V coefficient = 1), and a comprehensibility analysis with a scale of zero to ten obtained an average of ten points. Subsequently, this version was back- translated and checked against the original. In the reliability analysis, the results of the test- retest application found high reliability between the total score of both applications for both the group of 65 adults (Kappa 0.795; 95% CI: 0.777 to 0.819) and the group of 71 adolescents (Kappa 0.946; 95% CI: 0.908 to 0.982). CONCLUSIONS: The translated instrument "Five- part questionnaire (5pq) on hypermobility" was adapted to the Peruvian cultural context, and high reliability was found for the study groups 13 to 17 years and 24 to 60 years. Concurrent validation is recommended to consider its application in clinical and research settings.

Analysis of Knee Joint Stress During Drop Jump Landing in Females with Generalised Joint Hypermobility / 医用生物力学

Objective To analyze the differences of von Mises stress distribution in knee cartilage and meniscus in female with generalised joint hypermobility (GJH) and healthy female during drop jump landing. Methods The kinematic and ground reaction force (GRF) characteristics of knee joint in female with GJH and healthy female at the moment of peak vertical GRF (VGRF) during loading phase of drop jump landing were collected. The knee joint reaction force was calculated via inverse dynamics, and the combined force of knee joint along long axis of the femur was applied as the load. Based on three-dimensional (3D) finite element model of a female knee joint, numerical simulations were performed separately during drop jump landing of subjects in two groups, and von Mises stresses and stress distribution of knee cartilage and meniscus were calculated. Results At the moment of peak VGRF during drop jump landing, knee flexion and valgus angles in GJH group and control group showed a statistical significance (P<0. 05). Compared with control group, knee flexion angle decreased and valgus angle increased in GJH group. During drop jump landing, GJH group bore larger stress inside the knee joint, and stress distribution in weight-bearing areas of the medial and lateral tibiofemoral compartments was uneven, while the lateral femoral cartilage lateral condyle, the anterior and middle lateral of lateral tibial cartilage, the anterior angle and body lateral margin of lateral meniscus were stress concentration sites. Conclusions For females with GJH, the stability of knee joint decreases and force lines change in jumping events, due to the increased range of motion of knee joint and relaxation of joint capsule, which increases the risk of cartilage and meniscal injury in lateral knee joint. During jumping sports, females with GJH should especially prevent knee joint injury caused by altered force lines in frontal plane of knee joint.

Progress in Clinical Diagnosis and Management of Hypermobility Spectrum Disorders / 罕见病研究

@#Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs primarily affects the musculoskeletal system, predisposing the joints to subluxations or dislocations, and chronic pain. HSDs, however, may also manifest with symptoms such as fatigue, gastrointestinal disorders, and autonomic nervous system dysfunction, indicating multisystemic involvement that may impact psychological well-being. Although HSDs is usually not life-threatening, it is associated with poor quality of life. Currently, the molecular basis of HSDs remains unclear. The diagnosis of HSDs requires comprehensive medical evaluation and assessment. The main differential conditions/diagnoses include asymptomatic joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS), and various musculoskeletal inflammatory or degenerative diseases. Asymptomatic joint hypermobility, HSDs, and hEDS are now viewed as a continuous spectrum. Due to limited awareness of the condition, individuals with asymptomatic joint hypermobility may experience overdiagnosis and overtreatment, while patients with HSDs may encounter prolonged misdiagnoses or underdiagnoses. Furthermore, individuals presenting with psychological symptoms may have all their somatic complaints erroneously attributed to psychological factors. These factors collectively impose unnecessary psychological and economic burdens on patients and their families. The multi-systemic and heterogeneous nature of HSDs necessitates a multi-disciplinary team (MDT) approach with a case manager in both the diagnosis and management processes. Additionally, patient education and self-management play pivotal roles in optimizing chronic disease management. This review aims to summarize the current state of diagnosis and management of HSDs and raise awareness of HSDs, providing a basis for the establishment and refinement of a multi-disciplinary diagnostic and management framework for HSDs in China.

Síndrome de Ehlers Danlos tipo III en un adolescente masculino / Ehlers-Danlos Syndrome Type III in a Male Adolescent

Introducción: El síndrome de Ehlers Danlos tipo III o síndrome de hiperlaxitud articular benigna, consiste en una alteración genética del colágeno tipo III/I con un patrón de herencia autosómico dominante, caracterizado por la presencia de articulaciones con una amplitud de movilidad incrementada y síntomas musculoesqueléticos y extraesqueléticos. Objetivo: Valorar la importancia de la aplicación del método clínico para el diagnóstico del Síndrome de Ehlers Danlos tipo III. Caso clínico: Se presenta el caso de un adolescente masculino de 15 años de edad con diagnóstico clínico reciente del Síndrome de Ehlers Danlos tipo III. Conclusiones: Para lograr un diagnóstico certero del síndrome de Ehlers Danlos tipo III es imprescindible aplicar con ciencia y conciencia el método clínico(AU)

Introduction: Ehlers-Danlos syndrome type III or benign joint hyperlaxity syndrome consists in a genetic alteration of collagen type III/I with a dominant autosomal inheritance pattern, characterized by the presence of joints with increased range of motion, as well as musculoskeletal and extraskeletal symptoms. Objective: To assess the importance of applying the clinical method for the diagnosis of Ehlers-Danlos syndrome type III. Clinical case: The case is presented of a 15-year-old male adolescent with a recent clinical diagnosis of Ehlers-Danlos syndrome type III. Conclusions: In order to achieve an accurate diagnosis of Ehlers-Danlos syndrome type III, it is essential to apply the clinical method scientifically and conscientiously(AU)

The 496th case:recurrent syncope for 8 years / 中华内科杂志

A 25-year-old women was admitted to the department of Neurology in Affiliated 2nd Hospital of Hainan Medical University due to recurrent syncope for 8 years and return for 2 months. She had multiple episodes of syncope at onset. She presented with the feeling of weakness in both lower limbs, and fatigue in the past year. She experienced pain in the waist and limbs joint in recent three months. Physical examination showed joint hyperactivity in metacarpophalangeal joints of both upper limbs, increased skin elasticity. Active-standing transcranial Doppler (TCD) test showed that the average heart rate (HR) and the average middle cerebral artery (MCA) blood flow velocity in the supine position were 79 beats/min and 62 cm/s, respectively; while the average HR and the average MCA blood flow velocity in the standing position were 126 beats/min, 47 cm/s. Meanwhile,the blood pressure was normal during the test of supine-to-standing TCD. Genetic testing indicated LDB3 transgenation. The patient was diagnosed as postural tachycardia syndrome (joint-hypermobility-related), Ehlers-Danlos syndrome, and relieved by fluid infusion and rehabilitation therapy.

Effects of scoliosis-specific exercise therapy on idiopathic scoliosis / 中国康复理论与实践

ObjectiveTo observe the effects of specific exercise therapy on spinal deformity and joint hypermobility of idiopathic scoliosis. MethodsFrom April to October, 2021, 100 children with idiopathic scoliosis in the Scoliosis Rehabilitation Center of Xinhua Hospital were divided into control group (n = 50) and experimental group (n = 50), who accepted routine exercise therapy or scoliosis-specific exercise therapy in accordance with their wishes, for six months. The maximum Cobb angle and bone mineral density were measured, and they were assessed with Beighton Scale and Chinese version of the Scoliosis Research Society-22 Questionnaire Scores (SRS-22) before and after treatment. ResultsThe change of the maximum Cobb angle was more in the experimental group than in the control group (Z = -2.202, P < 0.05) after treatment, and the incidence of respondent was more (χ2 = -2.405, P < 0.05). The bone mineral density decreased in the experimental group after treatment (|Z| > 2.127, P < 0.05). For SRS-22, the total scores increased in both groups after treatment (Ftime = 106.57, P < 0.001), and increased more in the experimental group than in the control group (F = 4.969, P < 0.05); the scores of function domain and self-image domain increased in the experimental group (|Z| > 2.149, P < 0.05), while the mental health domain score decreased in the control group (Z = -2.096, P < 0.05); and the mental health domain score was more in the experimental group than in the control group (Z = -2.260, P < 0.05). ConclusionThe scoliosis-specific exercise therapy is effective on spinal deformity and quality of life for children with idiopathic scoliosis, but less helpful for joint hypermobility and bone mineral density, which need to further improve.

Consideraciones sobre el síndrome de hipermovilidad articular benigna / Considerations for benign joint hypermobility syndrome

El síndrome de hipermovilidad articular benigna es la aparición de síntomas musculoesqueléticos en individuos hipermóviles en ausencia de enfermedad reumatológica sistémica. El propósito de este estudio es mostrar los resultados de una revisión bibliográfica sobre hipermovilidad de las articulaciones y sus manifestaciones clínicas. La hipermovilidad puede ocurrir en varios trastornos diferentes del tejido conectivo, incluidos el síndrome de Marfán, el síndrome de Ehlers-Danlos y la osteogénesis imperfecta. También se puede encontrar en ciertos trastornos cromosómicos, genéticos y metabólicos. Identificar de manera habitual la hipermovilidad articular, y el síndrome de hipermovilidad articular no resulta una tarea difícil, siempre que forme parte del pensamiento clínico, lo cual ayudaría a evitar sus complicaciones y las tardanzas diagnósticas, lo que solucionaría en una medida nada despreciable los casos que se atienden regularmente en la práctica médica diaria(AU)

ABSTRACT Benign joint hypermobility syndrome is the appearance of musculoskeletal symptoms in hypermobile individuals in the absence of systemic rheumatologically disease. To show the results of a bibliographic review on joint hypermobility and its clinical manifestations. Hypermobility can occur in several different connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfect. It can also be found in certain chromosomal, genetic, and metabolic disorders. Identifying joint hypermobility on a regular basis, and JHS is not a difficult task, as long as it is part of clinical thinking, which would help to avoid its complications and diagnostic delays, which would solve a not inconsiderable measure of cases that they are regularly cared for in daily medical practice.

Síndrome de hipermovilidad articular / Joint hypermobility syndrome

Resumen: El síndrome de hipermovilidad articular es un desorden hereditario con patrón autosómico dominante; se caracteriza por hiperlaxitud articular y dolores musculoesqueléticos. El término hipermovilidad se refiere al incremento en los movimientos activos o pasivos de las articulaciones con base en sus rangos normales. El síndrome de hipermovilidad articular presenta además síntomas gastrointestinales, trastornos de sueño, fibromialgia, trastornos sicológicos, cefalea migrañosa, oftálmicos, autonómicos, entre otros. Para diagnosticar el síndrome de hipermovilidad, en general son aceptados los criterios de Brighton, los cuales fueron publicados en 1998. También se le conoce como síndrome de hipermovilidad articular benigno. El término benigno se utiliza para distinguirlo de otras condiciones más severas como Ehler-Danlos (tipo clásico o vascular), síndrome de Marfan y osteogénesis imperfecta. El tratamiento con fisioterapia y medidas farmacológicas ayudan a mejorar la calidad de vida de los pacientes.

Abstract: Joint hypermobility syndrome is an inherited disorder with autosomal dominant pattern; is characterized by joint hyperlaxity and musculoskeletal pains. Thermal hypermobility refers to the increase in active or passive movements of joints based on their normal ranges. Joint hypermobility syndrome also has gastrointestinal symptoms, sleep disorders, fibromyalgia, psychological disorders, migraine headache, ophthalmic, autonomic, among others. To diagnose hypermobility syndrome, Brighton's criteria are generally accepted and published in 1998. This criteria also known as benign joint hypermobility syndrome. The term benign is used to distinguish it from other more severe conditions such as Ehler-Danlos (classic or vascular type), Marfan syndrome, and imperfect osteogenesis. Treatment with physiotherapy and pharmacological means help improve patients' quality of life.

Estudios de agregación plaquetaria como endofenotipo de las alteraciones hereditarias de la fibra colágena / Platelet aggregation studies as an endophenotype of hereditary disorders of collagen fiber

Introducción: Las plaquetas contribuyen a la hemostasia y la interrupción heredada o adquirida; en sus procesos bioquímicos pueden alterar la función plaquetaria. Estos trastornos de agregación se han asociado a enfermedades genéticas con afectación del tejido conectivo como el síndrome Ehlers-Danlos, cuyo diagnóstico diferencial con el espectro de hipermovilidad articular resulta difícil clínica y molecularmente. Estas entidades con afectación en las fibras colágenas y diferente repercusión clínica precisan diferenciales en su diagnóstico clínico. Métodos: Se revisaron 353 historias clínicas de pacientes atendidos en el Servicio de Genética del Hospital Pediátrico William Soler desde septiembre del 2009 al 2012, con diagnóstico de hipermovilidad articular por criterios de Beighton y de Ehlers-Danlos según Villefranche (1997). Se incluyó a los pacientes de 5-18 años con resultados documentados del estudio de agregación plaquetaria, valorados por especialistas en hematología. Resultados: Se encontraron trastornos de agregación plaquetaria en 79 de 86 pacientes (92 por ciento). En 7 casos con hipermovilidad de 65 con este diagnóstico (10 por ciento), los resultados fueron negativos. Los 21 con síndrome Ehlers-Danlos tuvieron afectaciones con los fosfolípidos plaquetarios. La hipermovilidad articular estuvo asociada a la combinación difosfato de adenosina (ADP)-epinefrina y el Ehlers-Danlos a la combinación ADP-epinefrina-colágeno-fosfolípidos. Conclusiones: Los pacientes con hipermovilidad articular mostraron asociación a defectos de liberación de gránulos con agonistas como el ADP-epinefrina y los Ehlers-Danlos con la disponibilidad de los fosfolípidos, relacionados con el cambio de forma plaquetaria. Este resultado puede ser una herramienta para conocer el endofenotipo funcional plaquetario como elemento diferencial en los trastornos de la fibra colágena(AU)

Introduction: Platelets contribute to hemostasis and inherited or acquired interruption; in its biochemical processes it can alter platelet function. These aggregation disorders have been associated with genetic diseases with connective tissue involvement such as Ehlers-Danlos syndrome, whose differential diagnosis with the spectrum of joint hypermobility is clinically and molecularly difficult. These entities with involvement of the collagen fibers and different clinical repercussions require differentials in their clinical diagnosis. Methods: 353 medical records of patients attended in the Genetics service of the William Soler Pediatric Hospital from September 2009 to 2012, with a diagnosis of joint hypermobility by Beighton and Ehlers-Danlos criteria according to Villefranche (1997) were reviewed. Patients aged 5-18 years were included with documented results of the platelet aggregation study, assessed by specialists in hematology. Results: Platelet aggregation disorders were found in 79 of 86 patients (92 percent). In 7 cases with hypermobility of 65 with this diagnosis (10 percent), the results were negative. The 21 with Ehlers-Danlos syndrome had affectations with platelet phospholipids. Joint hypermobility was associated with the combination adenosine diphosphate (ADP) -epinephrine and the Ehlers-Danlos with the combination ADP-epinephrine-collagen-phospholipids. Conclusions: Patients with joint hypermobility showed an association to granule release defects with agonists such as ADP-epinephrine and Ehlers-Danlos with the availability of phospholipids, related to platelet shape change. This result can be a tool to know the platelet functional endophenotype as a differential element in collagen fiber disorders(AU)

Signos y síntomas en niños y adolescentes con hipermovilidad articular: un estudio transversal cuantitativo observacional / Signs and symptoms in children and adolescents with joint hypermobility: an observational, quantitative cross-sectional study

Contexto y Objetivo: La hipermovilidad articular (HA) puede representar el ex-tremo del rango normal de movimiento o condición para un grupo de trastornos hereditarios del tejido conectivo, con una variación de 2-64.6% en diferentes poblaciones. El objetivo fue caracterizar la asociación entre HA con las manifestaciones en forma de signos y síntomas.Tipo de Estudio y Ajuste: Estudio transversal cuantitativo observacional en un hospital universitario público.Métodos: Estudio con niños y adolescentes entre 5 y 16 años, de ambos sexos, en asistencia multiprofesional en la clínica ambulatoria de HA y SED en el Hospital Base de São José do Rio Preto y en la Unidad del Proyecto "Gato de Botas", en colaboración con FAMERP. Se utilizó un cuestionario para registrar datos y análisis realizados en base a cálculos de medidas de tendencia central, dispersión y conteos de frecuencia.Resultados: El puntaje 4 obtuvo la frecuencia más alta (45,61%), seguido del puntaje 6 (21,05%). Las manifestaciones musculoesqueléticas y extraesqueléticas fueron frecuentes. La variable de hiperextensión del quinto dedo >90º fue la variable con mayor incidencia, seguida de la aposición del pulgar al tocar la región flexora del antebrazo.Conclusiones: Entre los niños y adolescentes con HA, la mitad o más presentaron manifestaciones musculoesqueléticas o extraesqueléticas.

Background and Aim: Joint hypermobility (JH) may be the extreme of the normal range of motion or a condition for a group of hereditary connective tissue disorders, with a prevalence rate of 2 to 64.6% in different populations. The aim of the present study was to characterize the association between JH and manifestations in the form of signs and symptoms. Study Type and Setting: An observational, quantitative, cross-sectional study was conducted at a public hospital. Methods: This study involved the participation of male and female children and adolescents aged five to 16 years under multidisciplinary care at the JH and Ehlers-Danlos syndrome clinic of the São José do Rio Preto Base Hospital and the "Gato de Botas" Project Unit in partnership with the São José do Rio Preto School of Medicine. A questionnaire was administered for the recording of the data, which were analyzed descriptively, with the calculation of central tendency and dispersion measures as well as the determination of frequencies.Results: Beighton score 4 was the most frequent (45.61%), followed by score 6 (21.05%). Musculoskeletal and extraskeletal manifestations were frequent. Hyperextension of the 5th finger > 90º had a higher occurrence, followed by the thumb touching the flexor region of the forearm. Conclusions: Among children and adolescents with hypermobility, half or more had musculoskeletal or extraskeletal manifestations.

Cambios urodinámicos y en el punto Aa del sistema POP-Q, posterior a la colocación de cinta mediouretral / Urodynamic changes and at point Aa of POP-Q system, after midurethral sling placement

Resumen OBJETIVO: Determinar los cambios en el punto Aa del sistema POP-Q y en la prueba del Q-tip para hipermovilidad uretral y en los parámetros urodinámicos encontrados antes y 1 año después de la colocación de una cinta mediouretral. MATERIALES Y MÉTODOS: Estudio retrospectivo efectuado en pacientes a quienes se colocó una cinta mediouretral mediante acceso transobturador y retropúbico, por diagnóstico de incontinencia urinaria de esfuerzo, incontinencia urinaria mixta, incontinencia dual o con índice de riesgo de incontinencia urinaria de novo, posterior a cirugía de prolapso (R-CALC) mayor de 30%. RESULTADOS: Se estudiaron 200 pacientes de 51.59 ± 10.13 años de edad promedio. Conforme al grado de prolapso de órganos pélvicos, el estadio II tuvo una frecuencia de 57.5% (n = 115), el grado III de 21.5% (n = 43). En los hallazgos de la exploración física, previa a la cirugía, se encontró que 69% (n = 138) de las pacientes tuvieron una prueba de Q tip con hipermovilidad uretral (más de 30°). Al comparar el porcentaje de pacientes con hipermovilidad uretral posterior a 1 año de la cirugía, se observó disminución en las pacientes con hipermovilidad (p = 0.0001). La cuantificación del punto Aa en la escala del sistema POP-Q se encontró durante la exploración preoperatoria a 0.1 ± 1.17 cm respecto del himen y al año del procedimiento quirúrgico a -1.54 ± 1.18 cm, con p = 0.0001. CONCLUSIÓN: En todas las pacientes se demostró la disminución significativa del punto Aa en la revaloración del POP-Q de un estadio II a I posterior a la colocación de una cinta mediouretral; además de la disminución en el ángulo de movilidad uretral. No se observaron modificaciones significativas en los parámetros urodinámicos evaluados.

Abstract OBJECTIVE: To determine the changes in point Aa of the POP-Q system and in the Q-tip test for urethral hypermobility as well as in the urodynamic parameters found before and 1 year after mediurethral sling placement. MATERIALS AND METHODS: Retrospective study carried out in patients who were placed with a mediourethral tape by transobturator and retropubic access, by diagnosis of stress urinary incontinence, mixed urinary incontinence, dual incontinence or with risk index of de novo urinary incontinence after surgery. Prolapse (R-CALC) greater than 30%. RESULTS: 200 patients of 51.59 ± 10.13 years of average age were studied. According to the degree of pelvic organ prolapse, stage II had a frequency of 57.5% (n = 115), grade III with 21.5% (n = 43). In the physical examination findings, prior to surgery, it was found that 69% (n = 138) of the patients had a Q tip test with urethral hypermobility (more than 30°). When comparing the percentage of patients with urethral hypermobility after 1 year of surgery, a decrease was observed in patients with hypermobility (p = 0.0001). The quantification of point Aa on the scale of the POP-Q system was found during the preoperative examination at 0.1 ± 1.17 cm with respect to the hymen and one year after the surgical procedure at -1.54 ± 1.18 cm, with p = 0.0001. CONCLUSION: The significant decrease in point Aa in the reassessment of POP-Q from stage II to I after the placement of a mediourethral tape in all patients was demonstrated, in addition to the decrease in the angle of urethral mobility. No significant changes were observed in the urodynamic parameters evaluated.

Pessoas com a síndrome de Hhlers Danlos e hipermobilidade articular nas escolas: perspectivas inclusivas / People with Ehlers Danlos syndrome and articular hypermobility in schools: inclusive perspectives

Algumas lacunas presentes no sistema educacional não contemplam reflexões fundamentais sobre os transtornos de aprendizagem relacionados a diferentes síndromes estudadas e sobre aportes necessários para a recepção da população sindrômica nas escolas. Fazendo uma revisão da literatura, tipo narrativa, este artigo aborda a necessidade de atenção à inclusão integrativa das pessoas com síndrome de Ehlers Danlos-Tipo Hipermobilidade (SED-TH), doença hereditária do tecido conjuntivo, e da benigna Hipermobilidade Articular (HA), pelo fato de alguns estudos tecerem considerações sobre a associação existente entre estas condições e possíveis transtornos de aprendizagem e as limitações apresentadas pelas pessoas com SED-TH e HA. Além de indicar a prevalência e o desconhecimento sobre a síndrome, é apontada a necessidade de um estudo populacional em escolas, visando sua identificação e divulgação. Por meio da integração entre Educação e Saúde e uma abordagem multidisciplinar, seria possível definir estratégias e meios de oferecer atenção diferenciada nas escolas aos sindrômicos e hipermóveis, oportunizando a integração social e impulsionando a aprendizagem, para evitar estigmatizar pessoas nestas condições. A informação e capacitação de educadores, de outros profissionais envolvidos e de familiares são estratégias-chave nesse processo de recepção e integração destes educandos nas escolas e a apresentação de questionários de autoavaliação, guias e manuais voltados para informação de profissionais da área da educação no que se refere à SED-TH e HA destacam-se como possíveis ferramentas, assim como o estabelecimento de parcerias para atendê-los e a utilização das redes públicas de formação de professores para a divulgação e capacitação sobre a SED-TH e HA.

Some gaps in the educational system do not contemplate fundamental reflections on the learning disorders related to the different syndromes studied and about the contributions necessary for the reception of the syndromic population in the schools. A review of literature, narrative type, this article addresses the need for attention to the integrative inclusion of Ehlers Danlos Syndrome-Type Hypermobility (EDS-JH), hereditary connective tissue disease, and benign Articular Hypermobility (JH) due to the fact that some studies make considerations about the association between these conditions and possible learning disordersty and limitations of patients with EDS-JH/ JHS and JH. In addition to indicating the prevalence and lack of knowledge about the syndrome, it is pointed out to the need for a population study in schools, aiming to identify and disseminate it. It is suggested that by integrating Education and Health and multidisciplinary approach aims to boost and highlight strategies and means to provide special attention in schools to the syndromic and hypermobile, providing opportunities for social integration and boosting learning, to avoid stigmatizing people in these conditions. Information and training educators, other professionals and family are key strategies considered in this process of reception and integration of learners in schools and gives priority to raising self-assessment questionnaires; guides and manuals aimed to information and training of education professionals in relation to EDS-JH/JHS and JH stand out as possible tools, as well as the establishment of partnerships to serve them and the use Public Networks teacher training for the dissemination and training on the EDS-JH and JH.

Programa de ejercicios físico-terapéuticos en el síndrome de hipermovilidad articular y Ehlers-Danlos hiperlaxo / Program of physical-therapeutic exercises with syndrome of hypermobility to articulate and hypermobile Ehlers-Danlos syndrome

Se desconoce en el país la existencia de un programa para la rehabilitación física integral en pacientes adolescentes con Síndrome de Hipermovilidad Articular y Síndrome Ehlers-Danlos Hiperlaxo. Por tal motivo se diseñó un programa de ejercicios físico-terapéuticos para contribuir al alivio de las dolencias del sistema osteomioarticular para que los afectados puedan tener una mayor participación en las diferentes actividades escolares y de la vida diaria. Se analizaron los fundamentos teóricos y metodológicos del tratamiento físico rehabilitador en los adolescentes para establecer el diagnóstico del tratamiento. Asimismo fue determinado la estructura, contenido y metodología del programa. El cual fue valorado por criterio de especialistas. El estudio fue de corte descriptivo de naturaleza holística con un diseño no experimental. La muestra estuvo conformada de 21 especialistas, siete médicos especialistas en primer y segundo grado en Medicina Física y Rehabilitación, seis médicos especialistas en segundo grado de Reumatología, tres rehabilitadores (dos Licenciado en Cultura Física y un Especialista en Medicina Física y Rehabilitación), tres médicos especialistas en primero y segundo grado de Genética, dos Doctores en Ciencias Biológicas (Profesores en Fisiología) con una edad promedio de 42 años. Los métodos aplicados fueron teóricos y empíricos. Los especialistas valoraron de muy adecuado la implementación del programa con una Efectividad Esperada Fuerte. Resultó pertinente la confección del programa de ejercicios físico-terapéuticos dirigidos a estos síndromes y a las enfermedades asociadas, ya que justifica la necesidad de orientar científica y metodológicamente a los rehabilitadores físicos. Se arribaron a conclusiones y recomendaciones

The existence of a program for comprehensive physical rehabilitation in adolescent patients with Syndrome of Hypermobility to Articulate and Hypermobile Ehlers-Danlos Syndrome is unknown. For this reason a program of physical-therapeutic exercises was designed to contribute to the relief of bone muscle articulate System ailments so that the affected ones can have a greater participation in the different school activities and of the daily life. We analyzed the theoretical and methodological foundations of physical rehabilitation treatment in adolescents to establish the diagnosis of the treatment. The structure, content and methodology of the program were also determined. This was judged by specialists. The study was descriptive of a holistic nature with a non-experimental design. The sample consisted of 21 specialists, 7 first and second grade physicians in Physical Medicine and Rehabilitation, 6 medical specialists in the second degree of Rheumatology, 3 rehabilitators (2 Graduate in Physical Culture and 1 Specialist in Physical Medicine and Rehabilitation), 3 doctors specialized in first and second degree of Genetics, 2 Doctors in Biological Sciences (Professors in Physiology) with an average age of 42 years. The methods applied were theoretical and empirical. The specialists considered the implementation of the program with a Strong Expected Effectiveness very appropriate. The preparation of the program of physical-therapeutic exercises aimed at these syndromes and associated diseases were pertinent, since it justifies the need to provide scientific and methodological guidance to physical rehabilitators. Conclusions and recommendations were reached

Análisis del proceso de rehabilitación física en pacientes adolescentes con síndrome de hipermovilidad articular

El proceso de rehabilitación física en pacientes con síndrome de hipermovilidad articular y síndrome de Elhers Danlos tipo hiperlaxitud fue y es una de las vías para el tratamiento de las diferentes manifestaciones clínicas padecidas por los afectados. Por tal motivo se efectuó la búsqueda y valoración crítica de investigaciones, que a nivel internacional, estudiaron formas de rehabilitación física mediante programas de ejercicios físicos e implementación de estos en dichos pacientes. A nivel nacional no se encontró ninguna evidencia científica que mostrara la confección e implementación de alguna herramienta metodológica (guías, programas, baterías, manuales de ejercicios físicos) en estos casos. Por tal motivo no se realizó ningún análisis al respecto. El propósito de este estudio fue crear las bases teóricas para llegar a un conceso de carácter científico - metodológico que acercase a los especialistas de cómo concebir el proceso de rehabilitación en los afectados.

The process of physical rehabilitation in patients with Articular hypermobility syndrome syndrome and Ehlers Danlos hypermobility type was and is one of the avenues for the treatment of different clinical manifestations suffered by those affected. Therefore the search and critical appraisal of research was carried out, that internationally, studied forms of physical rehabilitation through exercise programs and implementing these in such patients. Nationally no scientific evidence to show the preparation and implementation of any methodological tool (guides, programs, batteries, manuals exercise) in these cases was not found. Therefore any analysis on it was not performed. The purpose of this study was to create the theoretical basis for reaching a concessive scientific - methodological specialists to get closer to conceive how the rehabilitation process in the affected.

Síndrome de Ehlers-Danlos em paciente com dor crônica. Relato de caso / Ehlers-Danlos syndrome in chronic pain patient. Case report

RESUMO JUSTIFICATIVA E OBJETIVOS: A síndrome de Ehlers-Danlos é uma doença do tecido conjuntivo que em alguns casos torna-se incapacitante. O objetivo deste estudo foi apresentar um caso raro diagnosticado no Ambulatório de Controle de Sintomas e Cuidados Paliativos com quadro doloroso importante. RELATO DO CASO: Paciente do gênero masculino, 17 anos, apresentou-se ao ambulatório com queixa de dor no corpo generalizada havia 4 anos. Referia história de hipermobilidade articular notada desde a infância. CONCLUSÃO: Neste caso realizou-se o diagnóstico de Síndrome de Ehlers-Danlos, tipo hipermobilidade, com base na história clínica e no exame físico, além dos critérios de Brighton. A adesão ao tratamento multidisciplinar mostrou impactante melhora na qualidade de vida do paciente.

ABSTRACT BACKGROUND AND OBJECTIVES: Ehlers-Danlos Syndrome is a connective tissue disease which becomes disabling in some cases. This study aimed at presenting a rare case diagnosed in the Ambulatory of Symptoms Control and Palliative Care with severe pain. CASE REPORT: Male patient, 17 years old, who came to the ambulatory complaining of widespread pain for 4 years. He referred history of joint hypermobility noticed since childhood. CONCLUSION: Based on clinical history and physical evaluation, in addition to Brighton criteria, patient was diagnosed as having hypermobility-type Ehlers-Danlos Syndrome.

Síndrome de Ehlers-Danlos Clásico o Ehlers-Danlos tipo I - II / The Classic Ehlers-Danlos or Ehlers-Danlos type I - II

El Síndrome de Ehlers-Danlos Clásico o Ehlers-Danlos tipo I - II, al igual que el Ehlers-Danlos Vascular son poco frecuentes, si se les compara con el tipo Hipermovible o tipo III, el que afecta al 39 por ciento de la población chilena. Es importante porque al tener marcada hiperlaxitud articular (contorsionistas) presenta subluxaciones importantes. Además, debido a la gran hiperextensibilidad de la piel, la que es muy frágil, tiene tendencia a heridas y a mala cicatrización. Al igual que los otros tipos de Síndrome de Ehlers-Danlos, el Clásico puede tener Hábito Marfanoide o/y Disautonomía. Se puede presentar también con Osteopenia u Osteoporosis, hernias, várices, hemorroides y prolapso. Tiene herencia autosómica dominante y la alteración genética es conocida (COL5A1 o COL5A2).

The Classic Ehlers-Danlos or Ehlers Danlos type I - II, as the Vascular Ehlers-Danlos are infrequent, as compared with the Hypermobile or type III, that affects 39 percent of the chilean population. It is important because due to the marked joint hypermobility (contosionists) presents important subluxations. Also due to the important skin laxity, which is fragile it has tendency to injuries and poor cicatrization. As the other Ehlers-Danlos types, the Classic Ehlers-Danlos can present with Marfanoid habitus and or Dysautonomia. It also can have Osteopenia or Osteoporosis, hernias, varicose veins, hemorrhoids and prolapse. It has dominant Autosomic inheritance and the genetic alteration is known (COL5A1 or COL5A2).

Influence of flexibility in the execution of movements in rhythmic gymnastics / Influência da flexibilidade na execução de movimentos da ginástica rítmica

The aim of this study is to evaluate the relationship between flexibility and execution/validation of movements that are characteristic of the rhythmic gymnastics, using both kinematics and the code of points to assess the importance of this physical ability in the practices of this sport. The study has a descriptive exploratory nature, and it was carried out by choosing 20 gymnasts from two teams of rhythmic gymnastics from the state of Paraná. Kinematics was used to collect data by relating it to the plasticity of the gymnastics movements. There is an association between the high level of flexibility and the skill of the athletes, regardless their category. Therefore, this study may estimulate further research of its subject, and will contribute to highlight the importance of the flexibility training in rhythmic gymnastics.

Esta pesquisa objetivou analisar a relação entre a flexibilidade e a execução/validação de movimentos característicos da ginástica rítmica, por meio de cinemetria e do código de pontuação, a fim de verificar a importância dessa capacidade física na prática da modalidade. De caráter descritivo exploratório, o estudo foi desenvolvido com 20 ginastas de duas equipes de ginástica rítmica do Estado do Paraná. Para a coleta de dados foi utilizada a cinemetria relacionando-a com a plasticidade dos movimentos ginásticos. Constatou-se que há associação entre o nível alto de flexibilidade e a qualificação da atleta, independente da categoria a que pertence. Portanto, este estudo poderá subsidiar novos estudos na área, além de contribuir para que seja valorizada a importância do processo de aquisição da capacidade de flexibilidade no treinamento de ginástica rítmica.