RESUMO
This study aimed to provide information on proprioception alterations in lymphedema-affected limbs. Blindfolded subjects sat at a table with their forearms positioned on paddles. The hinges of the paddles were aligned with the elbow joint and an electronic goniometer was positioned to measure the angle of the forearm. Paddles were moved by an electric servomotor with a slow angular speed that was barely appreciated by the subjects. Subjects were then asked to guess the position of the affected arm in comparison with the unaffected arm to study the position sense of the lymphedema-affected arm. The study investigated 50 women affected by secondary upper limb lymphedema by measuring the difference in terms of degrees of arch of movement in comparison with the unaffected arm and also both duration of lymphedema and the circumference of the forearm. Results were matched with a control group of 50 unaffected women providing proof of compromised proprioception in lymphedema-affected arms. In addition, results also showed a correlation with duration of lymphedema but not with size (stage) of the lymphedematous arm.
Assuntos
Braço/fisiopatologia , Linfedema/diagnóstico , Linfedema/fisiopatologia , Propriocepção , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Circunferência da CinturaRESUMO
Primary lymphedema is a rare inherited condition characterized by swelling of body tissues caused by accumulation of fluid, especially in the lower limbs. In many patients, primary lymphedema has been associated with variations in a number of genes involved in the development and maintenance of the lymphatic system. In this study, we performed a genetic screening in patients affected by primary lymphedema using a next generation sequencing (NGS) approach. With this technology, based on a custom-made oligonucleotide probe library, we were able to analyze simultaneously in each patient all the coding exons of 10 genes (FLT4, FOXC2, CCBE1, GJC2, MET, HGF, GATA2, SOX18, VEGFC, KIF11) associated with primary lymphedema. In the study population, composed of 45 familial and 71 sporadic cases, we identified the presence of rare variants with a potential pathogenic effect in 33% of subjects. Overall, we found a total of 36 different rare nucleotidic alterations, 30 of which had not been previously described. Among these, we identified 23 mutations that we considered most likely to be disease causing. Patients with an FLT4 or FOXC2 alteration accounted for the largest percentage of the sample, followed by MET, HGF, KIK11, GJC2 and GATA2. No alterations were identified in SOX18, VEGFC, and CCBE1 genes. In conclusion, we showed that NGS technology can be successfully applied to perform molecular screening of lymphedema-associated genes in large cohort of patients with a reasonable effort in terms of cost, work, and time.
Assuntos
Linfedema/genética , População Branca/genética , Adolescente , Adulto , Proteínas de Ligação ao Cálcio/genética , Criança , Pré-Escolar , Estudos de Coortes , Conexinas/genética , Feminino , Fatores de Transcrição Forkhead/genética , Fator de Transcrição GATA2/genética , Testes Genéticos , Genótipo , Fator de Crescimento de Hepatócito/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Itália , Cinesinas/genética , Linfedema/diagnóstico por imagem , Linfocintigrafia , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Proteínas Proto-Oncogênicas c-met/genética , Fatores de Transcrição SOXF/genética , Análise de Sequência de DNA , Proteínas Supressoras de Tumor/genética , Fator C de Crescimento do Endotélio Vascular/genética , Receptor 3 de Fatores de Crescimento do Endotélio Vascular/genética , Adulto JovemRESUMO
BACKGROUND: A proper knee rehabilitation after a surgical reconstruction of the anterior cruciate ligament (ACL) should start immediately after the injury and it should be focused on recovery of symmetry, proprioception, swelling reduction, gait training, hyperextension exercises, and even mental preparation. AIM: Aim of this study was to test a neurocognitive rehabilitative approach based on proprioceptive exercises and proper motor strategy choices, compared with conventional rehabilitation, assessing baropodometric, gait and clinical changes. DESIGN: Randomized controlled trial. SETTING: Ambulatory University Centre. POPULATION: Fourteen subjects (27.9±5.2 years) underwent to a surgical reconstruction of ACL were divided into the two groups. METHODS: The subjects were randomly assigned into a group who received a specific neurocognitive and perceptive rehabilitation treatment (TG), and into a control group who received the common physical therapy (CG). The following outcome measures were assessed pre-intervention, one, three and six months later: static and dynamic baropodometry, Visual Analog Scale for pain, Short Form SF-36, Range of Motion, trophism of thigh region, edema, Manual Muscle Test, magneto-resonance imaging assessment. RESULTS: Lower impairment was observed in TG in respect of CG in terms of load asymmetry during static baropodometry (from 7% to 3% vs. from 10% to 7%, interaction time per treatment: P=0.037), less wide steps during gait (effect size=1.05 vs. 0.38 for CG), swelling (treatment effect: P=0.012). A significantly higher improvement (from 35% to 100%) in terms of SF-36 was recorded only in TG for physical activity (P=0.027). CG showed a quite higher walking speed (treatment effect: P=0.049). CONCLUSION: Even if further studies are needed on larger samples, the obtained results showed that a neurocognitive rehabilitative approach could be an effective treatment after ACL-reconstruction: in TG we observed a more rapid load symmetrization, the reduction of step width and a more rapid resolution of edema. CLINICAL REHABILITATION IMPACT: Posture, gait, clinical features and quality of life could benefit from a neurocognitive rehabilitation after ACL surgical reconstruction.
