ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD).@*METHODS@#Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3).@*CONCLUSION@#The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.
Subject(s)
Child , Humans , Genomics , Immunoglobulin D/genetics , Mevalonate Kinase Deficiency/genetics , Mutation , Exome SequencingABSTRACT
Objective To investigate the clinical efficacy and safety of preoperative hypofractionated and conventionally-fractionated chemoradiotherapy for thoracic esophageal cancer. Methods A total of 86 patients with thoracic esophageal cancer receiving chemoradiotherpy in Sichuan Cancer Hospital between 2002 and 2011 were enrolled and randomized into the preoperative hypofractionated chemoradiotherapy group ( group A, n=41, 30 Gy in 10 fractions for 2 weeks ) and conventionally-fractionated chemoradiotherapy group ( group B, n=45, 40 Gy in 20 fractions for 4 weeks ) . Surgery was performed at 2-6 weeks after chemoradiotherapy. The probability of patients' survival was estimated by Kaplan-Meier method and analyzed by log-rank test. Results In groups A and B, the pathological downstaging rates were 68％ and 56％( P=0. 270) , the R0 resection rates were 95％ and 89％( P=0. 437) and the pCR rates of 32％ and 24％( P=0. 480).The 1-,3-and 5-year overall survival (OS) rates were 78％ and 69％,44％ and 44％,29％ and 33％(P=0. 114,0. 223,0. 289), and the progression-free survival (PFS) rates were 71％ and 62％,39％ and 38％,24％ and 29％(P=0. 211,0. 689,0. 331), respectively. The incidence rate of chemoradiothery-and surgery-related adverse events did not differ between two groups (P=0. 089-0. 872).The average length of hospital stay, radiotherapy cost and preoperative treatment costs in group A were significantly less compared with those in group B (P=0. 000,0. 000,0. 000). Conclusions Both preoperative hypofractionated and conventionally-fractionated chemoradiotherapy can be used as the regimen of preoperative chemoradiotherapy in patients with resectable thoracic esophageal carcinoma. Compared with conventionally-fractionated chemoradiotherapy, preoperative hypofractionated chemoradiotherapy has shorter treatment cycle, shorter length of hospital stay and lower radiotherapy cost, which is more easily accepted by patients.
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Objective To compare the outcome of in vitro fertilization (IVF) between sequential embryo transfer and simple blastocyst transplantation in patients with previous multiple IVF failures. Methods A total of 170 patients with repeated implantation failure were divided into sequential transfer group (n=71) and blastocyst transfer only group (n=99). A retrospective matched case-control analysis was made for the medical files of 71 patients who underwent sequential transfer of D3 embryos and blastocysts. The control group included 99 matched women who underwent embryo transfer on D5/6 only. All of the patients in two groups used the same protocols of emdometrium preparation (natural cycle or hormone-replacement cycle) and ultrasound-guided transplantation. The embryo implantation rate and clinical pregnancy rate were compared and analyzed between two groups. Results Sequential transfer of embryos resulted in a clinical pregnancy rate of 60.6%compared with that of 31.3%following D5/6 embryo transfer, and the implantation rate was 34.8%and 23.8%respectively (P<0.05). Although the total number of transfered embryos were higher in sequential transfer group than that of blastula transfer only group, the number of D5/6 embryo transfered in sequential transfer group were less than blastula transfer only group (P<0.05). And the number of high quality blastula transfered showed no statistical significant difference between two groups. There were 20 cases of twin and 5 cases of triplet pregnancy in sequential transfer group, which were 5 cases and 1 case in blastula transfer only group respectively. While, there was no case of muliple pregnancy beyond triplet in both groups Conclusion Sequential transfer of embryos can be used for women with repeated IVF cycles. The program avoids the possibility of eliminating the transplant, and which is effective in patients with more transplant embryos.
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Objective To evaluate the efficacy and safety of consolidation chemotherapy after thoracic radical concurrent chemoradiotherapy for patients with oligometastatic non?small cell lung cancer ( NSCLC) . Methods Sixty?six NSCLC patients with more than five metastases from 2008 to 2013 were enrolled, and image?guided radiotherapy with conventionally fractionated or hypofractionated doses were performed for these patients. Platinum?based doublets chemotherapy was applied for both concurrent chemoradiotherapy and consolidation chemotherapy. Short?term outcome, adverse reactions, and survival rate were assessed for the patients after treatment. Results Sixty?four patients completed the treatment. The median biologically equivalent dose for planning target volume of thoracic primary tumor lesions was 72 Gy, with a median number of chemotherapy cycles of 4. The objective response rate for thoracic lesions was 70%. The follow?up rate was 97%. The 1?, 2?, and 3?year overall survival ( OS) rates were 72%, 53%, and 31%, respectively, with a median OS time of 25 months;the 1?, 2?, and 3?year progression?free survival ( PFS) rates were 56%, 26%, and 7%, respectively, with a median PFS time of 14 months. The incidence of grade 2?3 acute radiation pneumonitis and radiation esophagitis was 1% and 17%, respectively, and the incidence of grade 3?4 decreases in leukocytes, hemoglobin, and platelet count was 39%, 11%, and 16%, respectively. Conclusions Radical radiotherapy combined with concurrent and consolidation chemotherapy for oligometastatic NSCLC can achieve good short?term outcome and long?term survival, with tolerable adverse effects.