Isolated limb hyperthermic perfusion chemotherapy for melanoma of the extremities / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the effect of isolated limb hyperthermic perfusion chemotherapy for melanoma of the extremities.</p><p><b>METHODS</b>Limb isolated hyperthermic perfusion chemotherapy was performed in 41 patients with malignant melanoma of the extremities, and then the primary lesions in 24 patients were removed at 14 - 21 days after chemotherapy. Tumor necrosis was examined by pathology.</p><p><b>RESULTS</b>Among the 41 patients, 40 cases were followed up for 6-113 months, and one was lost. There was no local recurrence in those patients. 29 cases were followed up for more than 3 years, and 26 of them were surviving. Forteen cases were followed up for more than five years, among them 9 cases were surviving. The 3-year and 5-year survival rates of the whole group were 95.0% and 70.0%, respectively. The average reduction of the tumor volume was 55.6% after perfusion. The pathological examination showed that tumor necrosis was 90% - 100% (complete response) in 21 cases (87.5%) and 60% - 89% (partial response) in 3 cases (12.5%).</p><p><b>CONCLUSIONS</b>The isolated limb hyperthermic perfusion chemotherapy is an effective treatment of limb malignant melanoma. It can significantly reduce the local recurrence rate, and improve the 5-year survival rate, prognosis and the quality of life of the patients.</p>

GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment.</p><p><b>METHODS</b>Audiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing.</p><p><b>RESULTS</b>Direct sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss.</p><p><b>CONCLUSION</b>The GJB2 mutations may be an aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.</p>

Analysis of Electroneurophysiological Detection on Children with Progressive Muscular Dystrophy / 实用儿科临床杂志

Objective To explore the value of electroneurophysiological detection in diagnosis of children progressive muscular dystrophy (PMD).Methods The clinical features and laboratory data were analyzed in 32 children with PMD ,and electromyography(EMG) and nerve conduction velocity(NCV) were performed.Parameters studied included spontaneous activity , duration and amplitude of motor unit potential(MUP),pattern of recruitment as strong contracting,sensory conduction velocity(SCV),motor conduction velocity(MCV), distal latency and distal amplitude. Results The abnormality rates of spontaneous potentials was 49.2% and 80.9% in tibialis anterior.The decrease of duration of MUP was 29.7%-62.4%.Amplitude of strong contracting was significantly decreased.There were different from those in normal children(P