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>

Clinical diagnosis and treatment of intracranial aneurysms associated with Moyamoya disease / 中华神经医学杂志

Objective To explore the magnetic resonance angiography (MRA),digital subtraction angiography (DSA) imaging characteristics of blood stream related aneurysms associated with Moyamoya disease and its treatment method.Methods Retrospective analysis was carried out on the clinical data of 6 patients with aneurysms related to Moyamoya disease,admitted to our hospital from January 2000 to September 2012.Results Among the 6 patients,3 had ischemic cerebrovascular disease with un-ruptured aneurysm; 2 of the 3 patients with ruptured aneurysm manifested as subarachnoid hemorrhage and 1 as hemorrhage in the basal ganglia.Three patients had major artery aneurysms around Willis circles,2 was peripheral artery type,and 1 was the mixed type.Endovascular embolization was performed in 4 patients and the other 2 accepted conservative treatments.Follow-up results were satisfied.Conclusion Blood stream related aneurysms associated with Moyamoya disease can be detected by MRA and DSA; endovascular embolization for major artery aneurysms is safe and effective and patients with peripheral artery type aneurysm not having hemorrhage,having surgical difficulty,can be treated with conservative treatment and performed follow up regularly.

Effect of Yindan Xinnaotong capsules on reactive nitrogen intermediates levels in the cerebral cortex and learning and memory abilities of rats with cerebral ischemia / 中华神经医学杂志

Objective To explore the effect of Yindan Xinnaotong capsules (YDXNT) on the reactive nitrogen intermediates in the cerebral cortex and learning and memory abilities of rats with cerebral ischemia.Methods Thirty rats were randomly divided into sham-operated group,vehicle group and Yindan Xinnaotong capsule treatment group.The animal models of cerebral ischemia in the later two groups were established by two vessel occlusion.Yindan Xinnaotong capsule 60 mg/(kg·d) via inttragastric administration was given to the Yindan Xinnaotong capsule treatment group for a consecutive four weeks.The learning and memory ability changes were tested with Morris water maze and the contents of nitric oxide (NO) and inducible nitric-oxide synthase (iNOS) in the cerebral cortex were measured by colorimetric method.Results As compared with the vehicle group,the Yindan Xirnaotong capsule treatment group and sham-operated group had significantly shorter escape latency and longer searching time in the quadrant of primary platform (P＜0.05); As compared with the vehicle group,the Yindan Xinnaotong capsule treatment group had significant decreased contents of NO and iNOS in the cerebral cortex (P＜0.05).Conclusion Yindan Xinnaotong capsules can improve the learning and memory abilities of rats with cerebral ischemia by lowering the activity of NO and iNOS in the cerebral cortex.

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>

Clinical value of serum level of ryanodine receptor antibodies in diagnosis of myasthenia gravis / 中华神经医学杂志

Objective To investigate the clinical value of detecting the serum level of ryanodine receptor antibodies (RyR-Ab) in the diagnosis and evaluation of myasthenia gravis (MG). Methods Enzyme-linked immunosorbent assay (ELISA) and Western blotting were used to detect the serum level of RyR-Ab in 81 patients with MG, 45 non-MG patients with other neurological disorders and 50 healthy control subjects. Results The results of ELISA showed a serum RyR-Ab positivity rate of 23.4% in the in MG patients, significantly higher than the rates in non-MG patients and the healthy subjects (P<0.05). The serum RyR-Ab positivity rate was 77.2% in MG patients with thymoma (MGT), 14.2% in those with thymie atrophy (MGA), and 6.6% in those with thymie hyperplasia (MGH). A positive correlation was found between the titer of serum RyR-Ab and the severity of muscle weakness (r=0.547, P<0.05). Compared with CT scanning, serum RyR-Ab level had low sensitivity (77.2%) but high specificity (91%, P<0.05) for diagnosis of MGT. According to the results of Western blotting, the serum RyR-Ab positivity rate was 81.8% in MGT patients, significantly higher than that in thymomβ-free MG patients and NMG patients (P<0.05). Conclusion RyR-Ab positivity is mainly found in MGT patients, and detection of serum RyR-Ab may help evaluate the severity of MG and assist in CT-based diagnosis of MGT.

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.