RESUMEN
PURPOSE: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing. METHODS: In this retrospective study, we assessed 167 probands referred for FBN2 analysis and classified them into a FBN2-positive (n = 44) and FBN2-negative group (n = 123) following molecular analysis. We developed a 20-point weighted clinical scoring system based on the prevalence of ten main clinical characteristics of CCA in both groups. RESULTS: The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups. CONCLUSIONS: Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.
Asunto(s)
Aracnodactilia/diagnóstico , Contractura/diagnóstico , Fibrilina-2/genética , Análisis de Secuencia de ADN/métodos , Aracnodactilia/genética , Niño , Contractura/genética , Diagnóstico Diferencial , Diagnóstico Precoz , Femenino , Pruebas Genéticas , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Fenotipo , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
An interdisciplinary European group of clinical experts in the field of movement disorders and experienced Botulinum toxin users has updated the consensus for the use of Botulinum toxin in the treatment of children with cerebral palsy (CP). A problem-orientated approach was used focussing on both published and practice-based evidence. In part I of the consensus the authors have tabulated the supporting evidence to produce a concise but comprehensive information base, pooling data and experience from 36 institutions in 9 European countries which involves more than 10,000 patients and over 45,000 treatment sessions during a period of more than 280 treatment years. In part II of the consensus the Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System (GMFCS) based Motor Development Curves have been expanded to provide a graphical framework on how to treat the motor disorders in children with CP. This graph is named "CP(Graph) Treatment Modalities - Gross Motor Function" and is intended to facilitate communication between parents, therapists and medical doctors concerning (1) achievable motor function, (2) realistic goal-setting and (3) treatment perspectives for children with CP. The updated European consensus 2009 summarises the current understanding regarding an integrated, multidisciplinary treatment approach using Botulinum toxin for the treatment of children with CP.
Asunto(s)
Antidiscinéticos/uso terapéutico , Toxinas Botulínicas/uso terapéutico , Parálisis Cerebral/tratamiento farmacológico , Consenso , Pediatría , Antidiscinéticos/normas , Toxinas Botulínicas/normas , Europa (Continente)/epidemiología , HumanosRESUMEN
UNLABELLED: An alternative treatment for primary bone tumors of the proximal humerus was assessed. Four patients, who made full functional recovery after complete resection of the proximal humerus inclusive of the rotator cuff and subsequent reconstruction with a reverse shoulder prosthesis, were examined clinically and radiographically. Distinct medialization of the center of rotation of the glenohumeral joint (28 mm) and elongation of the remaining deltoid muscle (116%) were measured. Increased scapular rotation (118%) was observed. The radiologic results and thoracoscapular rhythm analyses were implemented in a three-dimensional computerized model of the glenohumeral joint. This allowed us to calculate a doubling of the moment of the deltoid abductor muscle in the true scapular plane. After tumor surgery, in which the proximal humerus is resected without reinserting the rotator cuff, full functional recovery of the shoulder can be obtained with a total shoulder prosthesis, medializing the glenohumeral center of rotation and elongating the remaining deltoid muscle. LEVEL OF EVIDENCE: Therapeutic study, Level IV (case series-no, or historical control group).
