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.

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.

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.

Síndrome de Ehlers Danlos tipo III en un adolescente masculino

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.

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.

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.

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.

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.

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 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).

Cuando sospechar el síndrome de Ehlers-Danlos tipo III, también llamadosindrome de Ehlers-Danlos hipermovible / When to suspect Ehlers-Danlos type III, also known as hypermobile Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome type III is a very frequent disease, with dominant inheritance, that usually goes undiagnosed, due to lack of knowledge of the disease by physicians. In this article we discuss in detail clinical signs and symptoms that will enable doctors to suspect the diagnosis...

El síndrome de Ehlers-Danlos tipo III es una enfermedad hereditaria dominante, muy frecuente, que generalmente no es diagnosticada, debido a falta de conocimiento del tema por parte de los médicos. En este artículo se revisan, en detalle, los signos y síntomas clínicos de la enfermedad con el fin de ayudar al médico a sospechar el diagnóstico...

Somatotipo ectomórfico e hiperlaxitud articular como marcadores potenciales para la ansiedad comórbida en la esquizofrenia / Ectomorphic somatotype and joint hypermobility as potential markers for co-morbid anxiety in schizophrenia

Objetivo: Evaluar si la asociación descrita entre los trastornos de ansiedad y el síndrome de hiperlaxitud articular se mantiene en presencia de esquizofrenia y determinar su importancia clínica. Métodos: Se comparan 20 pacientes casos (10 hombres y 10 mujeres) con esquizofrenia y ansiedad comórbida y 20 pacientes de control, emparejados por sexo, con esquizofrenia sin ansiedad y diagnosticados mediante SCID-I. Se valoran las características sociodemográficas, las escalas de sintomatología positiva y negativa de la esquizofrenia (PANSS), Ansiedad Social de Liebowitz (LSAS) y Adaptación Social (SAS), el somatotipo (método Heath-Carter), las anomalías físicas menores (escala de Waldrop) y los criterios del Hospital del Mar para la hiperlaxitud articular. Resultados: No hubo diferencias significativas por sexo entre los casos y controles en cuanto a edad y características sociodemográficas (estado civil, nivel educativo y situación laboral). Los hombres con ansiedad fueron significativamente más ectomórficos (U = 20; p =0.023), más hiperlaxos (U = 21; p = 0.025) y con menos anomalías físicas menores (U = 14.5; p = 0.007) que los hombres del grupo control. Las mujeres con ansiedad fueron significativamente más ectomórficas (U = 17; p = 0.009) y más hiperlaxas (U = 19; p = 0.017). En toda la muestra, tras ajustar por edad y sexo, únicamente la hiperlaxitud articular se asocia de manera independiente con la ansiedad social (odds ratio [OR] = 1.1; intervalo de confianza [IC] del 95%: 1.02-1.2). Discusión: En los pacientes con esquizofrenia, la asociación entre hiperlaxitud articular, somatotipo ectomórfico y ansiedad comórbida parece persistir.Es un probable marcador clínico-biológico de interés.

To evaluate whether the reported link between anxiety disorders and joint hypermobility syndrome still holds in the presence of schizophrenia, and to ascertain its clinical relevance. Methods: Twenty schizophrenic case-patients (10 men and 10 women) with a comorbid anxiety disorder diagnosed by SCID-I were compared to 20 schizophrenic control-patients without anxiety, matched by gender. Socio-demographic characteristics, positive and negative symptoms of schizophrenia (PANSS), Liebowitz Social Anxiety scale (LSAS), Social Adjustment Scale (SAS), somatotype (Heath-Carter method), minor physical anomalies (Waldrop scale), and Hospital del Mar criteria for joint hypermobility were also assessed. Re-sults: There were no significant differences by gender between cases and controls in terms of age and sociodemographic characteristics (educational level, marital status and labor situation). Men displaying anxiety were significantly more ectomorphic (U = 20; p = 0.023), more hypermobile (U = 21; p = 0.025) and had fewer minor physical anomalies (U = 14.5; p = 0.007) than controls. Women with anxiety were significantly more ectomorphic (U = 17; p = 0.009) and more hypermobile (U = 19; p = 0.017) than con-trols. In the entire sample, after adjusting for age and sex, joint hypermobility was independently related to social anxiety (odds ratio [OR] = 1.1; 95%CI: 1.02-1.2). Discussion: In patients with schizophrenia, the association between JHS, ectomorphic somatotype and co-morbid anxiety seems to persist. It is a probable clinical biological marker of interest.

Prevalência de hipermobilidade articular em crianças pré-escolares / Prevalence joint hypermobility in preschool children / Prevalencia de hipermobilidad articular en niños pre-escolares

A hipermobilidade articular é a capacidade de realizar movimentos em amplitudes maiores que a normal. O presente estudo teve como objetivo estabelecer a prevalência de hipermobilidade articular em crianças pré-escolares da Rede Municipal de Educação de Londrina/PR. O estudo foi do tipo transversal com amostra constituída de 366 crianças, de 5 e 6 anos de idade. Verificou-se que, das crianças pré-escolares avaliadas, 198 (54,1%) apresentaram hipermobilidade articular, sendo 96 (59,6%) do sexo feminino e 102 (49,8%) do masculino. A hipermobilidade articular foi encontrada com maior frequência nas articulações de cotovelo e joelho, onde ocorreu a hiperextensão. Não houve diferença estatisticamente significante entre os grupos masculino e feminino em relação à hipermobilidade articular (χ²=3,539, p=0,072). Pode-se concluir que a hipermobilidade articular nas crianças pré-escolares foi achado comum, compatível com a faixa etária da população avaliada no estudo...

Joint hypermobility is the ability to perform movements with a range of motion that is wider than normal. This study aimed at establishing the prevalence of joint hypermobility in junior kindergarten and senior kindergarten children from the Municipal Education System of Londrina, Paraná, Brasil. The study was cross-­sectional, with a sample of 366 children aged between 5 and 6 years. The detection of joint hypermobility was based on the criteria proposed in literature. It was found that 198 (54.1%) of the children evaluated had joint hypermobility, 96 (59.6%) were girls and 102 (49.8%) were boys. Joint hypermobility was found more frequently in the elbow and knee joints, where hyperextension occurred. There was no statistically significant difference between the male and female groups in relation to joint hypermobility (χ²=3.539, p=0.072). We can conclude that joint hypermobility found in the junior kindergarten and senior kindergarten children evaluated was common and compatible with the age of the population evaluated in this study...

La hipermovilidad articular es la capacidad de realizar movimientos en amplitudes mayores que lo normal. El presente estudio tuvo como objetivo establecer la prevalencia de hipermovilidad articular en niños pre-escolares de la Red Municipal de Educación de Londrina/PR. El estudio fue de tipo transversal con una muestra constituida de 366 niños, de 5 a 6 años de edad. Se verificó que los niños pre-escolares evaluados, 198 (54,1%) presentaron hipermovilidad articular, siendo 96 (59,6%) de sexo femenino y 102 (49,8%) de sexo masculino. La hipermovilidad articular fue encontrada con mayor frecuencia en las articulaciones del tobillo y rodilla, donde ocurre la hiperextensión. No hubo diferencia estadísticamente significativa entre los grupos masculino y femenino en relación a la hipermovilidad articular (χ²=3,539, p=0,072). Se puede concluir que la hipermovilidad articular en los niños pre-escolares fue encontrada normal, compatible con la línea etaria de la población evaluada en el estudio...

Generalized Joint Hypermobility in Healthy Female Koreans: Prevalence and Age-Related Differences

OBJECTIVE: Objective To evaluate the prevalence of generalized joint hypermobility (GJH) in healthy female Koreans and to determine whether the degree of GJH differs between children and adults. METHODS: Two groups of females were enrolled, a group of girls from an elementary school (n=404) and women from a call center (n=266). GJH was diagnosed using the Beighton score, which is composed of an evaluation of bilateral knees, elbows, thumbs, and fifth fingers as well as thoracolumbar joint. The GJH and localized hypermobility of each joint was compared between the two groups, and the pattern of hypermobility according to age and dominant hand was investigated. RESULTS: Total prevalence of GJH was 50.0% (335/750), and it was more frequently observed in the group of girls (58.9%, 238/404) than women (36.5%, 97/266). The degree of GJH expressed in terms of Beighton score was inversely correlated with age (p<0.05). Significant differences in localized hypermobility of the thumb and fifth finger were found between the two groups and were postulated as the cause for the decline in GJH with age. The pattern of decreased mobility proportional to aging differed between the two joints. Decreased mobility occurred equally on both sides of the thumb but was biased toward the fifth finger of the dominant side (mostly the right). CONCLUSION: The female Koreans appeared to have a high prevalence of GJH. The incidence of GJH decreased as age increased as a result of decreased mobility of the fifth finger on the dominant side.

Anxiety and joint hypermobility association: a systematic review / Associação entre ansiedade e hipermobilidade articular: uma revisão sistemática

BACKGROUND: Anxiety disorders are often associated with several non-psychiatric medical conditions. Among the clinical conditions found in association with anxiety stands out the joint hypermobility (JH). OBJECTIVES: To carry out a systematic review of the clinical association between anxiety disorders and JH. METHOD: A survey was conducted in MEDLINE, PsychINFO, LILACS e SciELO databases up to December 2011. We searched for articles using the keywords 'anxiety', 'joint' and 'hypermobility' and Boolean operators. The review included articles describing empirical studies on the association between JH and anxiety. The reference lists of selected articles were systematically hand-searched for other publications relevant to the review. RESULTS: Seventeen articles were included in the analysis and classified to better extract data. We found heterogeneity between the studies relate to the methodology used. Most of the studies found an association between anxiety features and JH. Panic disorder/agoraphobia was the anxiety disorder associated with JH in several studies. Etiological explanation of the relationship between anxiety and JH is still controversial. CONCLUSION: Future research in large samples from the community and clinical setting and longitudinal studies of the association between anxiety and HA and the underlying biological mechanisms involved in this association are welcome.

INTRODUÇÃO: Os transtornos de ansiedade estão frequentemente associados a vários quadros clínicos não psiquiátricos. Dentre os quadros clínicos associados à ansiedade destaca-se a hipermobilidade articular (HA). Objetivo: Realizar uma revisão sistemática da associação entre os transtornos de ansiedade e a HA. MÉTODO: Foi realizada uma pesquisa nos bancos de dados MEDLINE, PsychINFO, LILACS e SciELO em busca de artigos publicados até dezembro de 2011. Usamos as palavras-chave anxiety , joint e hypermobility e os operadores boolianos. A revisão incluiu artigos que descrevem estudos empíricos sobre a associação entre ansiedade e HA. As listas de referências dos artigos selecionados foram sistematicamente pesquisadas à mão em busca de publicações relevantes para a revisão. RESULTADOS: Dezessete artigos foram incluídos na análise e classificados para uma melhor extração dos dados. Encontramos heterogeneidade entre os estudos relacionada à metodologia utilizada. A maioria dos estudos encontrou associação entre as características de ansiedade e HA. Transtorno do pânico com agorafobia foi o transtorno de ansiedade associado à HA em vários estudos. A explicação etiológica da relação entre ansiedade e HA permanece controversa. CONCLUSÃO: Estudos futuros com amostras maiores de indivíduos da comunidade e de cenários clínicos e estudos longitudinais da associação entre ansiedade e HA e dos mecanismos biológicos subjacentes envolvidos nessa associação são bem-vindos.

Dificultades en el diagnóstico y tratamiento de la disautonomía / Difficulties in the diagnosis and dysautonomia treatment

La disautonomía es una condición médica frecuente que, por lo general, cursa sin ser diagnosticada y es causa de fatiga crónica, mareos, desmayos y mala calidad de vida. estos enfermos muchas veces peregrinan de médico en médico, se les hacen múltiples exámenes, se plantean múltiples hipótesis, pero el diagnóstico preciso no se hace, ya que no se tiene en cuenta la disautonomía. Ésta frecuentemente se asocia al Síndrome de Hiperlaxitud Articular, que es una de las alteraciones hereditarias de la fibra colágena que es muy prevalente en Chile. El tratamiento, que es muy eficaz, suele fallar, ya que los enfermos temen tomar muchos líquidos y aumentar la sal y por miedo a los mineralocorticoides.

Dysautonomia is a frequent medical condition which goes undiagnosed and produces chronic fatigue, dizziness, syncope and poor quality of life. It is usually seen in association with the Joint Hypermobility Syndrome. Patients with Dysautonomia perambulate from physician to physician, get multiple tests, are given different medical hypothesis, but the precise diagnosis is not made. Even though there is a good treatment, the results are not as good as expected, because the patients are concerned about taking too much salt and water and are afraid of mineralocorticoids.

Síndrome de Ehlers-Danlos tipo III, llamado también síndrome de hiperlaxitud articular (SHA): epidemiología y manifestaciones clínicas / Ehlers-Danlos syndrome type III, also called joint hypermobility síndrome (JHS): epidemiology and clinical manifestations

El Síndrome de Ehlers-Danlos tipo III (SED-III), también llamado Síndrome de Hiperlaxitud Articular (SHA), es una enfermedad de los tejidos conectivos, muy frecuente y poco diagnosticada. Es debido a una alteración genética del colágeno que genera lesiones músculo-esqueléticas y extra-esqueléticas (hernias, várices, prolapso genital o rectal, miopía). Frecuentemente produce disautonomia en mujeres adolescentes, osteoporosis y osteoartritis precoz en ambos sexos. En este artículo hacemos un detallado análisis de los síntomas y signos que permiten sospechar el diagnóstico, recalcando la importancia de identificar la facies típica del SHA, lo que con experiencia es tan fácil como reconocer una persona con Síndrome de Down. Se destaca también la necesidad de usar el nombre de Ehlers-Danlos tipo III en vez de Síndrome de Hiperlaxitud Articular (SHA).

Ehlers-Danlos Syndrome (EDS-III), also called Joint Hypermobility Syndrome (JHS), is a connective tissue disease extremely frequent and usually undiagnosed. It is due to a genetic alteration of the collagen, generating musculoskeletal as well as extra-skeletal manifestations (hernias, varicose veins, genital and rectal prolapse, myopia). It causes dysautonomia, frequently in young adolescents girls, as well as osteoporosis and early osteoarthritis in both sexes. In this study, we make a detailed analysis of the manifestations and symptoms that permit a diagnostic suspicion, stressing the importance of being able to identify the typical JHS facies, which, with experience, is as easy to recognize as a person with Down Syndrome. We also stress the need to use the term Ehlers-Danlos type III (EDS-III), rather than Joint Hypermobility Syndrome (JHS).