Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Más filtros











Base de datos
Intervalo de año de publicación
1.
Parkinsonism Relat Disord ; 62: 231-235, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30442481

RESUMEN

INTRODUCTION: Pisa syndrome is a disabling, medication-resistant, postural abnormality that may affect 7-10% of patients with Parkinson's disease. In this study, we sought to assess the efficacy of botulinum toxin injections in Parkinson's disease-associated Pisa syndrome using a Magnetic Resonance Imaging-, Ultrasonography-, and Electromyography-guided combined approach. METHODS: We conducted a pilot study to evaluate the efficacy of botulinum toxin type-A injection in paraspinal and non-paraspinal axial muscles after a Magnetic Resonance Imaging and ultrasound-guided electromyography evaluation. Inclusion criteria were Pisa syndrome, idiopathic Parkinson's disease, and stable dopaminergic medications. Exclusion criteria were previous treatment with botulinum toxin, history of major spine surgery, and severe orthopedic diseases. As primary endpoint, we measured the rate of patients improving by at least 5° in the lateral trunk flexion 2 months after therapy. Secondary endpoints were the extent of lateral trunk flexion improvement, and changes in PS-associated pain/discomfort, measured by the Visual Analogue Scale. RESULTS: Out the 15 patients initially enrolled, 13 completed the follow-up assessment, while 2 joined a rehabilitation program and were excluded from the analyses. The rate of responders was 84.6% (n = 11/13), with 40% average reduction in trunk bending. Pain/discomfort improved in all patients, with 52.2% amelioration at the Visual Analogue Scale. The procedure was well tolerated in all cases, without side effects or complications. CONCLUSION: A combined imaging and EMG botulinum toxin approach to Pisa syndrome may yield a success rate greater than 80% in Parkinson's disease.


Asunto(s)
Toxinas Botulínicas Tipo A/administración & dosificación , Electromiografía/métodos , Imagen por Resonancia Magnética/métodos , Fármacos Neuromusculares/administración & dosificación , Enfermedad de Parkinson/tratamiento farmacológico , Ultrasonografía Intervencional/métodos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos Paraespinales/diagnóstico por imagen , Músculos Paraespinales/efectos de los fármacos , Músculos Paraespinales/fisiopatología , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/fisiopatología , Proyectos Piloto , Estudios Prospectivos , Síndrome
2.
Am J Med Genet A ; 170(7): 1772-9, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27108886

RESUMEN

Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array-Comparative Genomic Hybridization (aCGH) identified a de novo copy number variant (CNV) of uncertain significance. The phenotypes included microcephaly with brachycephaly and a distinctive facies in one proband, and hypotonia in the legs and mild ataxia in the other. WES allowed identification of a functionally relevant homozygous variant affecting a known disease gene for rare syndromic ID/DD in each proband, that is, c.1423C>T (p.Arg377*) in the Trafficking Protein Particle Complex 9 (TRAPPC9), and c.154T>C (p.Cys52Arg) in the Very Low Density Lipoprotein Receptor (VLDLR). Four mutations affecting TRAPPC9 have been previously reported, and the present finding further depicts this syndromic form of ID, which includes microcephaly with brachycephaly, corpus callosum hypoplasia, facial dysmorphism, and overweight. VLDLR-associated cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia and moderate-to-profound intellectual disability. The c.154T>C (p.Cys52Arg) mutation was associated with a very mild form of ataxia, mild intellectual disability, and cerebellar hypoplasia without cortical gyri simplification. In conclusion, we report two novel cases with rare causes of autosomal recessive ID, which document how interpreting de novo array-CGH variants represents a challenge in consanguineous families; as such, clinical WES should be considered in diagnostic testing. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Proteínas Portadoras/genética , Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Receptores de LDL/genética , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/fisiopatología , Cerebelo/anomalías , Cerebelo/fisiopatología , Niño , Preescolar , Hibridación Genómica Comparativa , Discapacidades del Desarrollo/fisiopatología , Exoma/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Discapacidad Intelectual/fisiopatología , Péptidos y Proteínas de Señalización Intercelular , Microcefalia/genética , Microcefalia/fisiopatología , Mutación , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/fisiopatología , Linaje , Fenotipo
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA