Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge.</p><p><b>METHODS</b>In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure, pedigree validation, and molecular dynamics (MD) simulation.</p><p><b>RESULTS</b>A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p. 143_147delLEGTL) was detected in the family. The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes. MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel, indicating the deletion as a dominant-negative mutation.</p><p><b>CONCLUSIONS</b>The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.</p>

The therapeutic effect of high-dose esomeprazole on stress ulcer bleeding in trauma patients / 中华创伤杂志(英文版)

<p><b>PURPOSE</b>To compare the therapeutic effects of different doses of intravenous esomeprazole on treating trauma patients with stress ulcer bleeding.</p><p><b>METHODS</b>A total of 102 trauma patients with stress ulcer bleeding were randomly divided into 2 groups: 52 patients were assigned to the high-dose group who received 80 mg intravenous esomeprazole, and then 8 mg/h continuous infusion for 3 days; 50 patients were assigned to the conventional dose group who received 40 mg intravenous esomeprazole sodium once every 12 h for 72 h.</p><p><b>RESULTS</b>Compared with the conventional dose group, the total efficiency of the high-dose group and conventional dose group was 98.08% and 86.00%, respectively (p < 0.05), the hemostatic time was 22.10 h ± 5.18 h and 28.27 h ± 5.96 h, respectively (p < 0.05).</p><p><b>CONCLUSION</b>Both doses of intravenous esomeprazole have good hemostatic effects on stress ulcer bleeding in trauma patients. The high-dose esomeprazole is better for hemostasis.</p>

Research on functional dyspepsia prevalence and related factors of naval / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To analyze functional dyspepsia prevalence and associated factors of naval forces.</p><p><b>METHOD</b>By stratified random cluster sampling method, conducted a questionnaire survey and diagnosis of functional dyspepsia to 11 520 military sea forces, and analyzed risk in clinical factors. Large sample size of 3084 cases in the diagnosis of functional dyspepsia, analyzed correlation of the selected 100 patients by single sample random sampling method.</p><p><b>RESULT</b>Naval forces, functional dyspepsia prevalence was 29.27% (3084/10537), and logistic regression analysis showed that job factors of military service, military rank, the nature of the work, the training intensity, training environmental P = 0.028, 0.023, 0.000, 0.000, 0.014, OR = 10.308, 6.288, 22.504, 26.720, 9.825; life factors of daily water intake, eating fruits and frequency of sleep time, spicy eating habits, drinking history factors P = 0.000, 0.012, 0.025, 0.017, 0.027, OR = 28.467, 20.335, 11.358, 10.249, 9.578; psychological factors, depression, anxiety factor P = 0.024, 0.019, OR = 16.878, 18.025;generally age, gender, ethnicity, BMI index, gastrointestinal history, history of drug, educational background, geographic factors P = 0.042, 0.033, 0.417, 0.000, 0.000, 0.012, 0.392, 0.440, OR = 3.406, 7.511, 2.643, 42.073, 88.457, 21.680, 1.752, 5.561.When value of P < 0.05, clinical risk factors were screened. Clinical symptom scores and work, life factor score and SAS, SDS score of randomly selected patient samples was positively correlated, r = 0.816, 0.763, 0.795, 0.923, P = 0.000, indicating statistically significant.</p><p><b>CONCLUSION</b>Naval forces functional dyspepsia prevalence was higher than the general population, which risk factors included work, life, psychological, physical fitness factors, closely related with military service and military personnel, military rank, the nature of the work, the training intensity and environment, eating habits, daily sleep time, drinking history, depression, anxiety level, age, gender, BMI index, history of gastrointestinal disease, use of drugs, high priority should be given to the risk factors listed above, the development of rational targeted programs to strengthen the cause of prevention measures.</p>

Titin and Ryanodine receptor epitopes are expressed in thymoma with myasthenia gravis patients / 中华神经科杂志

Objective To study the significance of Titin-ab and Ryanodine receptor-ab (RyR-ab) in the myasthenia gravis (MG) patients and the expression of Titin and RyR epitopes in thymoma of myasthenia gravis.Methods Using ELISA methods,the titer of the Titin-ab,RyR-ab in the sera of 62 patients with MG,as well as 45 cases non-MG with other neurologic disorders and 50 case of normal controls were determined,and Titin and RyR were studied with immunohistochemistry stain in the 19 samples of thymic tissues from 9 cases of MG with thymoma (MGT),6 cases of MG with thymic hyperplasia (MGH), 2 cases of MG with thymic atrophy (MGA),and 2 cases of non-MG with thymic carcinoma (NMGTC). Results The positive rate of Titin-ab in MG was 35.5% (22/62),with the highest being 82.3% (14/17) in MGT group.The positive rate of RyR-ab was 24.2% (15/62),the highest being 76.5% (13/17) in MGT group.Titin receptor epitopes were expressed in the transmembrane and cytoplasm region of thymoma epithelial cells of 7 cases of MGT patients,and RyR epitopes in the transmembrane region of thymoma epithelial cells of 6 cases of MGT;but no Titin nor RyR epitopes was identified in controls and such thymic pathological patterns,as MGH,MGA,NMGTC.Conclusions Titin-ab and RyR-ab are mostly found in MGT patients;Titin and RyR epitopes are expressed in neoplasm epithelial cells of thymoma with myasthenia gravis;it's a result of autoimmunization of Titin and RyR epitopes irritated by Titin and RyR specific T cells activated by the change of pathogenic microenvionment inside the thymoma.