Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia.@*METHODS@#Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members.@*RESULTS@#Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.

Rapidly Measuring Spatial Accessibility of COVID-19 Healthcare Resources: A Case Study of Illinois, USA

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causing the coronavirus disease 2019 (COVID-19) pandemic, has infected millions of people and caused hundreds of thousands of deaths. While COVID-19 has overwhelmed healthcare resources (e.g., healthcare personnel, testing resources, hospital beds, and ventilators) in a number of countries, limited research has been conducted to understand spatial accessibility of such resources. This study fills this gap by rapidly measuring the spatial accessibility of COVID-19 healthcare resources with a particular focus on Illinois, USA. Specifically, the rapid measurement is achieved by resolving computational intensity of an enhanced two-step floating catchment area (E2SFCA) method through a parallel computing strategy based on cyberGIS (cyber geographic information science and systems). The study compared the spatial accessibility measures for COVID-19 patients to those of general population, identifying which geographic areas need additional healthcare resources to improve access. The results also help delineate the areas that may face a COVID-19-induced shortage of healthcare resources caused by COVID-19. The Chicagoland, particularly the southern Chicago, shows an additional need for resources. Our findings are relevant for policymakers and public health practitioners to allocate existing healthcare resources or distribute new resources for maximum access to health services.

Effect of CO2 pneumoperitoneum and ABT-737 on the expression of VEGF in GCC/TAMs co-culture system / 中国现代普通外科进展

Objective:Study on proliferation of gastric cancer cells (GCCs) and expressions of VEGF under the CO2 pneumoperitoneum environment,and effect of Bcl-2 specific inhibitor on the expression of VEGF in GCCs/TAMs co-culture system.Methods:TAMs induced by PMA and IL-4 in vitro.TAMs and MKN-45 cells were co-cultured in Transwell chamber,in pseudo CO2 pneumoperitoneum environment.Proliferation activity of GCCs was detected by MTT assay,and ELISA method was used to detect VEGF concentration in the cell culture supernatant.Results:Co-culture system was divided into CO2 pneumoperitoneum group and control group.Proliferation activity of MKN-45 cell and expression of VEGF of 5mmHg,10mmHg and 15mmHg groups are no difference with the control group;25 mmHg group is opposite to the former.The cells in co-culture group and CO2 pneumoperitoneum group (15 mmHg) were added to ABT-737,VEGF expression of co-culture + ABT-737 group was significantly lower than that of in the control group(P=0.001).Co-cultured cells VEGF expression in pneumoperitoneum group was significantly lower than the control group without inhibitor (P=0.000).Conclusion:Normal laparoscopic pneumoperitoneum is no stimulation of tumor cell proliferation defects,And higher pneumoperitoneum pressure might increase the hypoxia status of tumor microenvironment,promote tumor malignant progression.The interaction between tumor cells and TAMs may be achieved by paracrine Bcl-2-VEGF loop.

The clinical value of transvaginal ultrasonography in diagnosis of ruptured ovarian cyst / 中国医学装备

Objective: To explore the clinical value of transvaginal ultrasonography in diagnosis of ruptured ovarian cyst. Methods:Retrospective analysis the 46 cases of ruptured ovarian cyst diagnosis by transvginal ultrasonography in our hospital which confirmed by surgery and pathology. Results: In the among 46 cases, 39 cases were the corpus luteum cyst, 14 cases were the endometriotic cyst, were all confirmed by surgery and pathology, the diagnostic accurate rate of corpus luteum cyst is 92.3%, the rate of endometriotic cyst is 57.1%. Conclusion:Transvaginal ultrasonography is accurate, rapid and convenient, provides the reliable basis for the diagnose and different diagnose acute abdominal disease.

Role of nuclear factor-κB activation in bilirubin-induced rat hippocampal neuronal apoptosis and the effect of TAT-NBD intervention / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the role of nuclear factor-κB (NF-κB) activation in bilirubin-induced apoptosis of rat hippocampal neurons and the effect of TAT-NBD intervention on bilirubin neurotoxicity.</p><p><b>METHODS</b>Primary-cultured rat hippocampal neurons were treated with TAT-NBD in the initial 6 or 24 h or in the latter 6 h during a 24-h bilirubin exposure of the cells (early, continuous and late intervention groups, respectively). Immunocytochemistry was performed to detect NF-κB p65 protein expression, and the cell survival and apoptosis were assessed with a modified MTT assay, Annexin V-FITC/PI and TUNEL assay. IL-1β concentration in the supernatant was determined with ELISA.</p><p><b>RESULTS</b>Compared with the control cells, bilirubin-treated cells showed a significantly increased NF-κB p65 protein expression (P<0.01), which reached the peak level at 6 and 24 h (P<0.01). The cell survival rate in early TAT-NBD intervention group was (80.784∓9.767)%, significantly lower than that of the control group (P<0.01) but higher than that of bilirubin group (P<0.01); the apoptotic rate in early TAT-NBD intervention group was significantly higher than that of control group (P<0.01) but lower than that of bilirubin group (P<0.01). IL-1β concentration was significantly lower in early TAT-NBD intervention group (15.348∓0.812 pg/ml) than in bilirubin group (P<0.05). The continuous and late TAT-NBD intervention groups showed comparable cell survival rate, apoptotic rate and IL-1β concentration with bilirubin group (P>0.05).</p><p><b>CONCLUSION</b>NF-κB bidirectionally regulates bilirubin-induced apoptosis of rat hippocampal neurons. Selective inhibition of the early peak of NF-κB by TAT-NBD offers neuroprotective effect. TAT-NBD can be potentially used for prophylaxis of bilirubin-induced brain injury.</p>

Laparoscopic total colectomy for familial adenomatous polyposis with a report of 9 cases / 局解手术学杂志

Objective To explore the feasibility and safety of laparoscopic total colectomy for familial adenomatous polyposis. Methods All 9 patients with familial adenomatous polyposis received laparoscopic total colectomy were analyzed. Results Laparoscopic total colecto-my was successfully performed in all the 9 patients. The operative time,blood loss,flatus and hospitalization were respectively 230~310 min, 80~210 mL,2~3 days and 12~14 days. All patients were followed up for 6~36 months. The postoperative recovery was good. Conclusion Total colectomy can be successfully perfomed with laparoscopic assisted in treating familial adenomatous poliposis. It is a feasible and safe surgical procedure and can significantly improve the quality life.

Pathological Basis of Ovarian Cystic Teratoma and its Differential Diagnosis Using Grey Scale Ultrasonography / 中国医学影像学杂志

Purpose To investigate the diagnostic value of gray-scale ultrasound on ovarian cystic teratoma.Materials and Methods 83 patients with primary diagnosis of ovarian cystic teratoma underwent gray-scale ultrasonography. The ultrasonic images were compared with postoperative pathologic results. Results 91 cases of 83 lesions were detected. The ultrasonic features were categorized into 6 types: cystoid, solid-like, intracystic dough sign, intracystic hair-ball, intracytic fat-fluid level, and intracytic cluttering sign. The diagnose accordance rate for each sign was 81.0%, 77.8%, 96.2%, 100% and 70.0% respectively. The diagnose accordance rate of ultrasonic diagnosis compared with pathologic results was 89.0% (81/91), and misdiagnosed rate and rate of missing diagnosis was 11.0% (10/91). Conclusion The ultrasonic features of ovarian cystic mature terotoma were of importance diagnostic value, whereas differentiation with ovarian chocolate cysts and ovarian mucus-cystic adenoma should be made cautiously.

Effects of hypertonic sodium chloride hydroxyethyl starch on blood flow of intestinal mucosal microcirculation in rats with hemorrhagic shock / 解放军医学杂志

Objective To study the effects of hypertonic sodium chloride hydroxyethyl starch(HSH), blood flow of microcirculation (IMMBF) in Sprague-Dawley(SD) rats. Methods Sixty healthy SD rats were included in the study, 6 of which were used as normal control and their IMMBF was regarded as the baseline. Fifty-four rats were subjected to hemorrhagic shock with BP of 40mmHg for 60min, Among these 54 rats, IMMBF was measured in 6, without resuscitation. In 24 shock rats, HSH was given in a dose of 6ml/kg as the HSH group, and in 24 shock rats lactated Ringer solution (RL) was given in a volume twice of volume of blood loss as the RL group. At 90, 120, 180 and 300 minutes after shock, their IMMBF was measured, and specimens of their intestinal wall were harvested for pathological examination. Results The results showed that IMMBF baseline level of SD rats was 110.67?11.63mV. It was decreased to 25.78?10.77mV after shock for 60 minutes. The IMMBF in HSH group was 103.22?7.96, 92.50?14.47, 86.17?10.35 and 122.33?8.30mV at the 4 time points, respectively, the IMMBF in RL group was 61.89?6.41, 64.95?12.94, 63.42?6.46 and 86.50?13.51mV, respectively the difference between the two groups at every time point was significant with P value