Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.@*METHODS@#Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.@*RESULTS@#Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05).@*CONCLUSION@#Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.

Advances of endoluminal reconstruction of digestive tract in totally laparoscopic total gastrectomy / 国际外科学杂志

With the improvement of laparoscopic instruments and laparoscopic surgical techniques, Abdominal minimally invasive surgery has developed rapidly, and laparoscopic gastric cancer surgery is also gradually becoming mature. For upper stomach cancer, gastric corpus cancer, linitis plastica, total laparoscopic total gastrectomy (TLTG) as a minimally invasive operation is widely used in clinical treatment of gastric cancer. Smaller surgical trauma, faster recovery, significantly increased perioperative quality of patients’ life. The technical points and difficulties of TLTG are how to complete digestive tract reconstruction under full laparoscopic monitoring. Totally laparoscopic esophagus jejunum anastomosis is a key problem for TLTG digestive tract reconstruction. Therefore, to explore the way of TLTG digestive tract reconstruction has become the focus of clinical researchers. The article will review the common surgical methods of TLTG digestive tract reconstruction in order to provide a better reference for the selection of clinical surgical methods.

Digital breast tomosynthesis in diagnosis of dense breast lesions / 浙江大学学报·医学版

OBJECTIVE@#To evaluate the value of digital breast tomosynthesis (DBT) in diagnosis of dense breast lesions.@*METHODS@#Clinical and pathological data of 163 patients (58 benign lesions, 122 malignant lesions, and 180 lesions in total) with breast lesions undergoing surgical treatment in Shaoxing Central Hospital from January 2017 to December 2018 were retrospectively analyzed. The lesions were classified into non-homogeneous dense gland type and extremely dense gland type according to BI-RADS creterion. Breast MRI and DBT examinations were performed before the surgery. ROC curve was generated and the diagnostic efficacy of two examination methods for dense breast lesions was evaluated with pathological results as the gold standard. The detection rate, diagnostic accuracy of benign and malignant breast lesions were compared between two methods using chi-square test. The accuracy of lesion size preoperatively evaluated by MRI and DBT was analyzed by Pearson correlation.@*RESULTS@#The detection rate and diagnostic accuracy for benign breast lesions by MRI were higher than those by DBT (91.4% vs. 75.9%, =5.098, 0.05 and 94.3% vs. 91.8%, =0.569, >0.05). The areas under the ROC curves of MRI, DBT based on BI-RADS classification were 0.910 and 0.832, respectively (=1.860, >0.05). The sensitivities of MRI, DBT to breast lesions were 93.3% and 86.7%, and the specificities were 68.3% and 79.1%. DBT and MRI measurements were positively correlated with pathological measurements (=0.887 and 0.949, all <0.01).@*CONCLUSIONS@#DBT can effectively diagnose benign and malignant breast lesions under dense gland background, and it has similar diagnostic efficacy with MRI for breast malignant lesions.