RESUMEN
OBJECTIVE: To report an X-linked dominant Charcot-Marie-Tooth disease (CMTX) Chinese family with vocal cord paresis and to identify the mutation of gap junction protein beta 1 gene (GJB1). METHODS: Part of the family members with dysphagia, dysphonia and lethal respiratory failure were studied through flexible laryngoscope, clinical, brain MRI and electrophysiological examinations. After excluding large fragment tandem duplication containing peripheral myelin protein 22 gene (PMP22), direct sequencing was performed to analyze the mutation of the GJB1 gene in 5 patients including the proband, 5 unaffected family members and 50 unrelated healthy individuals. RESULTS: Eight members spanning 3 generations in this family were affected with CMTX characterized by progressive atrophy and weakness of the anterior tibial and peroneal muscles, especially in the proband. Vocal cord paresis was observed through flexible laryngoscope in total of 4 affected members with dysarthria and dysphagia, 2 of them died of severe respiratory failure due to complete bilateral vocal cord involvement. Normal brain MRI was observed in the proband. The electrophysiological data showed predominant demyelization involving the motor and sensory nerves in the proband. DNA sequencing revealed a de novo c.186 C>G missense mutation in exon 2 of the GJB1 gene, the mutation cosegregated with phenotype. CONCLUSION: Respiratory failure associated with vocal cord involvement may be a rare and severe symptom in CMTX. The present report provides further evidence for clinical and genetic heterogeneity in the X-linked Charcot-Marie-Tooth disease.
Asunto(s)
Pueblo Asiatico/genética , Enfermedad de Charcot-Marie-Tooth/genética , Conexinas/genética , Mutación Missense , Parálisis de los Pliegues Vocales/genética , Adolescente , Adulto , Secuencia de Bases , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Proteínas de la Mielina/genética , Linaje , Adulto Joven , Proteína beta1 de Unión ComunicanteRESUMEN
OBJECTIVE: To prepare Poly(ethylene glycol)-poly(lacticacid-co-glycolicacid)-poly(ethylene-glycol) nanoparticles (PELGE-NP) and investigate the factors affecting their diameter. METHODS: PELGE were synthesized by ring-opening polymerization, PELGE nanoparticles (PELGE-NP) were prepared by using the emulsion-solvent evaporation technique (O/W). Orthogonal design was applied to optimize the preparation technology on the basis of the single factor evaluation. RESULTS: The optimal conditions for preparing nanoparticles included the PELGE at concentration of 10 mg/ml, the ratio of acetone/DCM at 2/3, the F68 at concentration of 3%, and the volume ratio of O/W at 1/8 (V/V). CONCLUSION: The prepared PELGE nanoparticles are spherical and discrete particles without aggregation; they are smooth in surface morphology, and their diameters range from 60 nm to 100 nm.