RESUMEN
INTRODUCTION: The Mini-Manual Ability Classification System (Mini-MACS) is an adaptation of the MACS for children with cerebral palsy (CP) aged 1-4 years, which classifies children's performance to handle objects that are relevant to their age and development. The availability of a reliable Mini-MACS in Greek would allow for using it safely and properly in the clinical and research context of Greece. Therefore, the purpose of this study was to translate the original English version into Greek and examine its test-retest and interrater reliability. MATERIAL AND METHODS: The English Mini-MACS was translated into Greek using the "forward-backward" method. Sixty-three children with CP, Gross Motor Function Classification System (GMFCS) levels I-V, aged 12 -50 months were included in the reliability study. Test-retest and interrater reliability were assessed using the interclass correlation coefficient (ICC). The association between Mini-MACS and GMFCS level ratings was also assessed using Spearman's rho correlation coefficient (ρ). RESULTS: The translated version was easy to understand and use. The Greek Mini-MACS was found to have excellent test-retest reliability (ICC > 0.96) for both parents and therapists, good interrater reliability (ICC=0.89) between therapists and parents, and moderate-to-strong correlation with the GMFCS (ρ = 0.56-0.64, p < 0.0001). CONCLUSION: The Greek Mini-MACS constitutes a user-friendly and reliable scale for use in the Greek population.
RESUMEN
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece. We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease. A series of 15 Greek children affected by pure HSP underwent extensive diagnostic investigations. Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes ATL1, SPAST, REEP1, and CYP7B1. WES performed in three cases yielded previously reported mutations in ATL1 and CYP7B1, and a variant c.397C>T of unknown significance in SPG7. Candidate gene screening performed in the remaining patients identified previously reported mutations in ATL1 (2), SPAST (2), and REEP1 (1), and two novel mutations, c.1636G>A and c.1413+3_6delAAGT, in SPAST. In six cases, the mutations were inherited from their parents, while in three cases, the mutations were apparently de novo. Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms. De novo occurrence of HSP does not seem to be uncommon. Candidate gene studies guided by diagnostic algorithms and WES seem both to be reasonable genetic testing strategies.
Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Unión al GTP/genética , Predisposición Genética a la Enfermedad/genética , Proteínas de la Membrana/genética , Mutación/genética , Paraplejía Espástica Hereditaria/diagnóstico , Paraplejía Espástica Hereditaria/genética , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Evaluación de la Discapacidad , Progresión de la Enfermedad , Femenino , Grecia , Humanos , Masculino , Índice de Severidad de la Enfermedad , EspastinaAsunto(s)
Cardiomiopatías/patología , Heterocigoto , Imagen por Resonancia Magnética , Madres , Distrofia Muscular de Duchenne/genética , Miocardio/patología , Adulto , Anciano , Enfermedades Asintomáticas , Cardiomiopatías/genética , Cardiomiopatías/fisiopatología , Medios de Contraste , Femenino , Fibrosis , Gadolinio DTPA , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Distrofia Muscular de Duchenne/complicaciones , Fenotipo , Valor Predictivo de las Pruebas , Volumen Sistólico , Función Ventricular IzquierdaRESUMEN
In this study we evaluated two families with Becker muscular dystrophy and although the patients were completely asymptomatic and with normal ECG and echocardiogram, their left ventricular function was abnormal and the presence of subepicardial scar tissue was identified in the majority of them. The latter was also documented in one of the mothers, who had normal systolic function and was free of symptoms. Cardiac evaluation with cardiovascular magnetic resonance is sensitive enough to detect abnormal findings in BMD patients, missed by conventional echocardiography. Due to its ability to perform tissue characterization non-invasively, cardiovascular magnetic resonance can detect silent myocardial lesions in patients with Becker muscular dystrophy.
Asunto(s)
Imagen por Resonancia Magnética/métodos , Distrofia Muscular de Duchenne/patología , Miocardio/patología , Adolescente , Ecocardiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular de Duchenne/fisiopatología , Función Ventricular Izquierda , Adulto JovenRESUMEN
Pseudoaneurysms of the ascending aorta after the original inclusion/wrap technique of the Bentall procedure present a difficult surgical management problem and are associated with substantial morbidity and mortality. Patients with Marfan syndrome frequently develop aneurysms and dissections that involve multiple aortic segments. We present the case of a Marfan patient who successfully underwent repair of a giant ascending aortic pseudoaneurysm and concomitant repair of an abdominal aortic aneurysm. An aggressive surgical strategy followed by life-long cardiovascular monitoring is warranted in order to prolong the survival of these patients.
