RESUMO
BACKGROUND: Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6. The relative frequency and phenotype differences between DYT1 and DYT6 amongst Chinese primary dystonia patients have not been well-characterized. PATIENTS AND METHODS: One hundred eleven unrelated Chinese patients with primary dystonia were screened for mutations in TOR1A and THAP1 genes, and correlate this with clinical presentation. Exon 5 of TOR1A and all three exons and exon-intron conjunctions in THAP1 were screened by direct sequencing. RESULTS: Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations (c.224A>T, c.449A>C). The overall mutation frequency was 4.5% in this cohort with TOR1A mutations found in 2.7% and THAP1 mutations found in 1.8%. No mutations were detected in the controls composed of 100 normal Chinese subjects. The clinical presentations of the DYT1 cases included onset in the limbs that could progress to the generalized dystonia within several years but without cranial involvement. Whilst in the DYT6 cases, the onset was cranial or cervical and progresses very slowly. CONCLUSION: The major clinical differences between DYT1 and DYT6 dystonia in China were the cranial involvement in DYT6 and progress to general dystonia within several years in DYT1.
Assuntos
Proteínas Reguladoras de Apoptose/genética , Proteínas de Ligação a DNA/genética , Distonia Muscular Deformante/genética , Distonia Muscular Deformante/fisiopatologia , Chaperonas Moleculares/genética , Proteínas Nucleares/genética , Adolescente , Adulto , Povo Asiático/genética , Sequência de Bases , Criança , Pré-Escolar , China , Análise Mutacional de DNA , Progressão da Doença , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , FenótipoRESUMO
Primary tracheal schwannoma is rare. It is easy to be misdiagnosed as bronchitis, asthma due to the lack of special symptom. Diagnosis of schwannoma depends on a comprehensive examination. Surgery is the only effective mean. Here we reported a 17-year-old male, who suffered from cough for 10 months. A variety of tests confirmed that he had schwannoma. There is no significant change after tumor resection via rigid bronchoscope since two years ago.
Assuntos
Neurilemoma/diagnóstico , Neoplasias da Traqueia/diagnóstico , Adolescente , Broncoscopia , Tosse/etiologia , Humanos , Masculino , Neurilemoma/complicações , Traqueia , Neoplasias da Traqueia/complicaçõesRESUMO
An outbreak of sternotomy infections due to Mycobacterium fortuitum in patients who had received cardiovascular surgery occurred in a cardiothoracic hospital in Hong Kong, and 21 such isolates from different patients had antimicrobial susceptibility studies against 14 drugs in vitro. These isolates were also studied for plasmid profiles and ribosomal ribonucleic acid gene restriction patterns. The latter method proved valuable in categorization of these isolates into two groups (comprising of nine and seven isolates, respectively) and five other sporadic strains. When the plasmid profiles and ribotyping are matched against the clinical and epidemiologic data, multisource contamination is suspected to be responsible for the outbreak. The organisms were probably derived from the environment rather than contaminated surgical equipments and materials.