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Objective:To analyze clinical phenotypes and pathogenic mutations of a patient with classic tuberous sclerosis complex.Methods:Clinical data was collected from a patient with classic tuberous sclerosis complex. Next-generation sequencing was performed to screen pathogenic gene variants, and Sanger sequencing to verify the mutations. Minigene plasmids were constructed and transfected into the human renal epithelial cell line 293T, and RNA was extracted for transcriptional analysis.Results:The patient clinically presented with recurrent epileptic seizures, facial angiofibroma, periungual fibroma, pulmonary lymphangioleiomyomatosis, renal angiomyolipoma and multiple osteosclerosis. Next-generation sequencing revealed a suspected pathogenic variant in the TSC2 gene in the patient. Sanger sequencing identified a heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene in the patient, but not in his parents or 100 unrelated healthy controls. Moreover, this mutation had not been previously reported. The minigene experiment showed changed mRNA sequence of the TSC2 gene in this patient with loss of the authentic splice site in exon 4 and insertion of a 74-bp intron, which shifted the splice site 90 bp downstream (r.336delins336+16_336+90) .Conclusion:The novel heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene can lead to aberrant splicing, and may contribute to tuberous sclerosis complex in this patient.
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Microwave ablation(MWA) is a significant progress in tumor non-surgical treatment in the 1990s.It is characterized by high thermal efficiency,fast heating rate,high uniform temperature field,complete necrosis of coagulation area and small influencing factors.The local treatment of the tumor shows a great advantage.In recent years,with the maturity of MWA technology,it has been widely used in the treatment of liver tumors(hapatic tumor,HT),has achieved good clinical efficacy.The aim of this study is to review the progress of treatment of HT in MWA to improve its therapeutic efficiency.
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Objective To evaluate the value of CT guided percutaneous transthoracic needle biopsy (PTNB) for the diagnosis of lung ground‐glass opacity (GGO) with a Meta‐analysis .Methods Relevant English and Chinese language studies were searched on the PubMed ,EMBASE ,EBSCO ,OVID ,CNKI ,CBM ,VIP and WANFANG databases ,respectively .Data were calculated with software of Stata 12 .0 and Meta‐Disc 1 .4 .Results 6 of 82 retrieved studies were included (n=341) .The pooled sensitivity ,specifici‐ty ,LR+ ,LR- ,DOR ,AUC and 95% CI were 0 .92(0 .86-0 .95) ,0 .98(0 .85-1 .00) ,49 .03(5 .72-420 .18) ,0 .08(0 .05-0 .15) , 586 .24(65 .18-5 272 .83) and 0 .99(0 .98-1 .00) ,respectively .Conclusion CT guided PTNB can be used as one of the primary examination modalities for lung GGO with moderate sensitivity and specificity .
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Objective To evaluate the value of contrast enhanced MR imaging (CEMRI)for the diagnosis of focal liver lesions with Meta analysis.Methods Relevant English and Chinese language studies were searched on the Pubmed,EMBASE,EBSCO,OV-ID,CNKI,CBM,VIP,WANFANG databases,respectively.Data were calculated with software of STATA 1 1.0 and Meta Disc 1.4. Results 1 7 of 2836 retrieved studies were included,the pooled sensitivity and specificity for CEMRI with 95% confidence interval (95%CI)were 0.85(0.84-0.87)and 0.86(0.84-0.88),respectively,the AUC of SROC was 0.91 6 8.Conclusion CEMRI can be used as one of the primary examination modalities for focal liver lesions with moderate sensitivity and specificity.