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<p><b>OBJECTIVE</b>To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling.</p><p><b>METHODS</b>Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations.</p><p><b>RESULTS</b>A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2.</p><p><b>CONCLUSION</b>The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.</p>
Asunto(s)
Femenino , Humanos , Masculino , Secuencia de Bases , Análisis Mutacional de ADN , Exones , Genética , Salud de la Familia , Predisposición Genética a la Enfermedad , Genética , Heterocigoto , Factor de Transcripción Asociado a Microftalmía , Genética , Datos de Secuencia Molecular , Mutación , Factor de Transcripción PAX3 , Factores de Transcripción Paired Box , Genética , Linaje , Reacción en Cadena de la Polimerasa , Factores de Transcripción SOXE , Genética , Eliminación de Secuencia , Factores de Transcripción de la Familia Snail , Factores de Transcripción , Genética , Síndrome de Waardenburg , Clasificación , Diagnóstico , GenéticaRESUMEN
Objective To study the clinical effects on patients with brain metastases from lung cancer combined with Elemene Injection and radiotherapy. Method 86 patients with brain metastases from lung cancer were randomly divided into control group and treatment group, 43 cases in each group. Control group was given conventional radiotherapy treatment, while treatment group combined Elemene Injection with radiotherapy. Results Compared with control group, treatment group’s disease control effect was obviously better. Survival rates after treatment for six months, one year, three years were higher than control group, and the number of adverse reactions were lower. Serum MMP-2 and MMP-9 levels were significantly greater. Radiotherapy plan time and total time in hospital for treatment were significantly shorter. Conclusion The combination of Elemene Injection with radiotherapy treatment for patients with brain metastases from lung cancer is very obvious.
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OBJECTIVE@#To explore and analyze the clinical characteristics and treatment strategy of severe complications caused by esophageal foreign bodies.@*METHOD@#A retrospective study was carried out on 49 cases with foreign bodies in esophagus through careful analysis of their clinical data to explore the associated problems with etiology and therapy. Among this complications, there were cases of 13 periesophageal abscess, 20 cases of abscess in the neck, 11 cases of mediastinal abscess, 3 tracheoesophageal fistula, 1 case of aorta injury and 1 septicemia.@*RESULT@#Forty-eight (97.96%) of the patients recovered while one died.@*CONCLUSION@#Hard esophagoscopy under general anesthesia is the main therapeutic strategy to take out the esophageal foreign bodies. When it failed or severe complications such as perforation or others emerged, open surgery like lateral neck incision or thoracotomy supplemented with positive and timely supporting therapy are vital and essential.