[Genetic diagnosis of microcephaly].

Objective: To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly. Methods: A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis. Results: In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene. Conclusions: CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.

[Chinese expert consensus on management of dyslipidemia in the elderly].

Dyslipidemia is an important risk factor of atherosclerotic cardiovascular disease (ASCVD). Statins delay the occurrence and development of ASCVD, and reduce the risk of cardiovascular events and death. Due to safety concerns, there exist insufficient use of lipid-lowering agents and a high withdrawal rate of the agents in the elderly. To promote the prevention and treatment of ASCVD, this expert consensus is issued and focuses on the management of dyslipidemia of Chinese elderly basing on the clinical evidence of the use of lipid-lowering drugs by the elderly, and the lipid management guidelines and expert consensus recommendations at home and abroad.

[Diagnosis and treatment status of perioperative anemia in patients with gastrointestinal neoplasms: a multi-center study in Hubei Province].

Objective: To investigate the incidence and treatment of perioperative anemia in patients with gastrointestinal neoplasms in Hubei Province. Methods: The clinicopathological data of 7 474 patients with gastrointestinal neoplasms in 62 hospitals in 15 cities (state) of Hubei Province in 2019 were collected in the form of network database. There were 4 749 males and 2 725 females. The median age of the patients was 62 years (range: 17 to 96 years). The hemoglobin value of the first time in hospital and the first day after operation was used as the criterion of preoperative anemia and postoperative anemia. Anemia was defined as male hemoglobin <120 g/L and female hemoglobin <110.0 g/L, mild anemia as 90 to normal, moderate anemia as 60 to <90 g/L, severe anemia as <60 g/L. The t test and χ2 test were used for inter-group comparison. Results: The overall incidence of preoperative anemia was 38.60%(2 885/7 474), and the incidences of mild anemia, moderate anemia and severe anemia were 25.09%(1 875/7 474), 11.37%(850/7 474) and 2.14%(160/7 474), respectively. The overall incidence of postoperative anemia was 61.40%(4 589/7 474). The incidence of mild anemia, moderate anemia and severe anemia were 48.73%(3 642/7 474), 12.20%(912/7 474) and 0.47%(35/7 474), respectively. The proportion of preoperative anemia patients receiving treatment was 26.86% (775/2 885), and the proportion of postoperative anemia patients receiving treatment was 14.93% (685/4 589). The proportions of preoperative anemia patients in grade ⅢA, grade ⅢB, and grade ⅡA hospitals receiving treatment were 26.12% (649/2 485), 32.32% (85/263), and 29.93% (41/137), and the proportions of postoperative anemia patients receiving treatment were 14.61% (592/4 052), 22.05% (73/331), and 9.71% (20/206). The proportion of intraoperative blood transfusion (16.74% (483/2 885) vs. 3.05% (140/4 589), χ²=434.555, P<0.01) and the incidence of postoperative complications (17.78% (513/2 885) vs. 14.08% (646/4 589), χ²=18.553, P<0.01) in the preoperative anemia group were higher than those in the non-anemia group, and the postoperative hospital stay in the preoperative anemia group was longer than that in the non-anemia group ((14.1±7.3) days vs. (13.3±6.2) days, t=5.202, P<0.01). Conclusions: The incidence of perioperative anemia in patients with gastrointestinal neoplasms is high. Preoperative anemia can increase the demand for intraoperative blood transfusion and affect the short-term prognosis of patients. At present, the concept of standardized treatment of perioperative anemia among gastrointestinal surgeons in Hubei Province needs to be improved.

Understanding the element segregation and phase separation in the Ce-substituted Nd-(Fe,Co)-B based alloys.

Ce substituted Nd2Fe14B (2:14:1)-type permanent magnets have shown increasing potential in the applications due to their high properties/cost ratio. However, the element segregation and phase separation in the Ce substituted magnets have not been fully understood yet. In this work, (Nd1-xCex)25Fe40Co20Al4B11 alloys with high coercivities were prepared by copper mold casting. Based on detailed microstructure and composition analysis, the segregation of rare earth (RE) elements was observed in the as-cast alloys. Nd element prefers to enter into the 2:14:1 phase and the Ce element enter into the 1:2 phase. The existence of the 1:2 phase can promote the element segregation. The alloy shows an abnormal increase of coercivity from 641 kA/m for x = 0.2 to 863 kA/m for x = 0.3. This increase could be attributed to the phase separation of the 2:14:1 phase, which has been confirmed by the microstructural characterization. The present data provides useful information for exploring Ce-containing Nd-Fe-B magnets.

Bevacizumab in combination with first-line chemotherapy in patients with metastatic colorectal cancer: a meta-analysis.

Bevacizumab plays an important role in the treatment of patients with metastatic colorectal cancer (mCRC). The aim of this study is to assemble current RCTs to analyze efficacy of adding bevacizumab to the most used combination first-line chemotherapy in mCRC patients. PubMed, Web of Science, the Cochrane Library and Embase were systematically searched. Our primary endpoint was overall survival (OS), progression-free survival (PFS) and secondary endpoint was overall response rate (ORR). Hazard ratios (HRs) for PFS and OS and risk ratio (RR) for ORR were extracted from each trial. All these above were performed using a random-effects model and statistics was performed in StataSE 12.0. Seven randomized controlled studies aggregating 3264 patients were enrolled in our meta-analysis. OS, PFS and ORR were performed using a random-effects model. A therapeutic effect advantage was showed in Bevacizumab added to first-line chemotherapy with higher OS (HR=0.67; 95% CI=0.61-0.72; P=0.000), PFS (HR=0.67; 95% CI=0.61-0.72; P=0.000) compared with chemotherapy alone. Chemotherapy plus bevacizumab increased ORR (38.42% vs. 33.44%), showing statistically difference (RR=1.17, 95% CI=1.06-1.28, P=0.001). Our meta-analysis shows that the addition of bevacizumab to first-line regimens can be beneficial in terms of OS, PFS and ORR compared with chemotherapy alone.