Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS).@*METHODS@#A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis.@*RESULTS@#The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS.@*CONCLUSION@#The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.

Feasibility study of image guided radiotherapy for lung tumor using online and offline cone-beam CT setup verification / 中华放射肿瘤学杂志

Objective To investigate the feasibility of online and offline cone-beam CT (CBCT) guided radiotherapy for lung cancer. Methods Fourteen patients with lung tumor treated by three-dimen-sional conformal radiotherapy were investigated. Online kV CBCT scan,image registration and setup correc-tion were performed before and immediately after radiotherapy. CBCT online-guided correction data were used to calculate the population-based CTV-PTV margins under the condition of non-correction and correction in every fraction respectively. The numbers of initial images and the population-based CTV-PTV margins af-ter the offline compensation of the system setup error were evaluated with the permission of 0.5 mm and 1.5 mm maximal residue error,respectively. Results Under the condition of non-correction,the required mar-gins for total error were 5.7 mm,8.0 mm and 7.8 mm in the left-right(x axis) ,cranio-caudal(y axis) and anterior-posterior(z axis) directions, respectively. When the tumor was corrected in every fraction, the re-quired margins for intra-fraction error were 2.4 mm,2.4 mm and 2.3 mm in x,y and z axes, respectively. To correct the systematic setup error,9 sets of CBCT images for 3.3 mm,3.7 mm and 3.6 mm PTV margins, and 7 sets of CBCT images for 3.9 mm,4.3 mm and 4.3 mm PTV margins in x,y and z axes were necessary when 0. 5 mm and 1.5 mm maximal residue errosr were permited respectively. Conclusions Both of the online CBCT correction and the offline adaptive correction can markedly reduce the impact of setup error and reduce the required PTV margins accordingly. It is feasible to deliver the online and offline image guided ra-diation for patients with lung tumor.