Objective:To explore the impact of CACNA1C rs58619945 genotype on the cortical thickness of attentional networks in patients with Bipolar 1 disorder type (BD-Ⅰ). Methods:From August 2013 and August 2019, a total of 155 BD-Ⅰ patients were recruited from the outpatient and inpatient Departments of the Affiliated Brain Hospital of Guangzhou Medical University, along with 82 healthy controls (HC) from the community and university. Genotype for the CACNA1C rs58619945 locus was determined for all BD-I patients and HC subjects, followed by 3.0 T magnetic resonance imaging scans to measure the cortical thickness in the alert, orienting, and executive control subnetworks. General linear models (GLMs) were used to evaluate the impact of CACNA1C rs58619945 on the cortical thickness of attentional networks. Concurrently, attentional dimension functions were assessed using repeatable battery for the assessment of neuropsychological status (RBANS) and Cambridge neuropsychological test automated battery rapid visual information processing (CANTAB RVP) test. This study was approved by the Medical Ethics Committee of the Affiliated Brain Hospital of Guangzhou Medical University(Ethics No. 2023-056). Results:Compared with the HC group, the BD-Ⅰ patients had shown reduced thickness in bilateral prefrontal cortex, bilateral posterior cingulate cortex, and bilateral superior temporal cortex( P<0.05). A significant interaction between the CACNA1C genotype and the cortical thickness(HC vs.BD) of right prefrontal cortex, right posterior parietal cortex and right superior temporal cortex was noted( P<0.05). Partial correlation analysis has demonstrated a significant correlation between CANTAB RVP and RBANS attention indices and cortical thickness in the right prefrontal cortex, right posterior cingulate cortex( P<0.05), and right superior temporal cortex predominantly among carriers of the BD-Ⅰ G allele. Conclusion:The G allele of CACNA1C rs58619945 is associated with cortical thickness of the right prefrontal cortex, right posterior cingulate cortex, and right superior temporal cortex in BD-Ⅰ, which are part of the alerting and orienting network.

Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans-type cells, which may occur concurrently or sequentially with T-cell acute lymphoblastic leukemia (T-ALL) and other Lymphoid neoplasms. A 15-year old female patient diagnosed with T-ALL developed LCH involving multiple systems during maintenance chemotherapy of T-AL. After treated with chemotherapy with improved result, the patient showed progression of the illness and refractory to the second-line treatment. We found c.G35A (p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment. The treatment proved effective, leading to partial remission within a week. Three months after Trametinib treatment, the patient developed new lymphadenopathy. Biopsy revealed the existence of LCS. The disease progressed quickly, and the patient died 7 days after diagnosis of LCS. The case of patients with T-ALL then developing LCH and LCS sequentially is extraordinarily rare. The causes of the case is unclear and may be related to cell transdifferentiation, clonal evolution, and chemotherapy. Targeted drugs can contain this disease for a short time.

Objective:To explore the feasibility of using the sigma metrics calculated with the data of internal quality control for the comparison of the analytical performance between different biochemical analyzers.Methods:The internal quality control results of twenty-five biochemical assays in the biochemical analyzers of the department of clinical laboratory in Cancer Hospital from February 1, 2021 to July 31, 2021 were collected. The formula sigma =( TEa- Bias)/ CV was used to calculate the sigma metrics of two different levels of the biochemical assays including albumin, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, calcium, cholesterol, creatine kinase, chlorine, creatinine, γ- glutamyltranspeptidase, blood glucose, high density lipoprotein cholesterol, immunoglobulin A, immunoglobulin G, immunoglobulin M, potassium, lactate dehydrogenase, low density lipoprotein cholesterol, sodium, inorganic phosphorus, total bilirubin, triglyceride, total protein, urea, uric acid. The imprecision was obtained by the coefficient of variation of internal quality control. The bias was calculated by the deviation between the mean of internal quality control of the comparison instrument and the target instrument. The allowable total error ( TEa) was based on People's Republic of China Health Industry Standard (WS/T403-2012) or EQA standard of National Center for Clinical Laboratories (NCCL). Compared the sigma values of the comparison instrument relative to the target instrument with the average percentage bias obtained by the traditional comparison method. Quality goal index was used to analyze the causes of poor performance and judge the results of comparison. Results:Compared with the target instrument Beckman AU5800-3, the comparison instrument Beckman AU5800-1 had 10 assays with σ>6, accounting for 40%, 23 assays with σ>3, accounting for 92%, and only albumin and blood glucose showed σ<3. Through statostical analysis, the comparisons of all assays were passed. The comparison instrument Beckman AU5800-2 had 8 assays with σ>6, accounting for 32%, 20 assays with σ>3, accounting for 80%. Only alkaline phosphatase, calcium, lactate dehydrogenase, total protein and urea showed σ<3. Through statostical analysis, the comparisons of GGT and IgM failed. For the traditional comparison method, the percentage bias between the comparison instruments and the target instrument were all within the range of the evaluation standard. But there was no significant correlation between the σ value and the average bias of the traditional comparison method, and the biases were correlated.Conclusions:Using the sigma metrics calculated with the data of internal quality control for the comparison of different detection systems is a convenient and operable method. It can monitor the comparability between different detection systems in the laboratory at any time and be the supplement of the traditional comparison method.

Objective: To investigate the effect of repetitive transcranial magnetic stimulation (rTMS) combined with donepezil on the cognition of persons with post-stroke cognitive impairment (PSCI) and their ability to perform activities of daily living (ADL). Methods: A total of 106 PSCI patients were randomly divided into an observation group and a control group using a random number table. Those in the observation group received 10Hz rTMS (5 seconds on and 25 seconds off for 20 minutes daily) and donepezil daily, 5 days per week for 4 weeks, while those in the control group were provided with donepezil but only sham rTMS on the same schedule. Before and after 4 weeks of treatment, the Montreal cognitive assessment scale (MoCA), the Rivermead behavior memory test (RBMT) and the modified Barthel index (MBI) were used to evaluate the subjects′ cognitive functioning, memory capacity and ADL ability. The latency and amplitude of auditory event-related potential P300 were also assessed using a myoelectric evoked potential apparatus. Results: After the treatment, improvement was observed in all the measurements of both groups. After the treatment, the average MoCA, RBMT and MBI scores, as well as the latency and amplitude of P300 in the observation group were all significantly better than among the control group. Conclusions rTMS can supplement donepezil′s ability to improve the cognition and ADL ability of persons with PSCI. Such therapy is worthy of clinical promotion and application.

Clinical biochemical examination is an important part of medical laboratory, and it is also the key and difficult point of all kinds of examinations.However,the teaching of clinical biochemistry is easily to enter the misunderstanding of "focusing only on the instrument operation, while others depend on self-study". There is even confusion that teachers don′t know what to teach and students don′t know what to learn.In this paper, the teaching experience of the clinical biochemical laboratory is described,formulated a scientific block training program, adopted the teaching mode of combining tutorial responsibility with daily teaching,flexibly used a variety of teaching methods and procedural examinations, and greatly improved the teaching quality.

Objective: The aim of this study is to investigate the variation tendency of coagulation and fibrinolysis biomarkers in cancer patients and to explore the effect of these biomarkers for the diagnosis of thrombosis in cancer patients. Methods: 171 cancer patients admitted to hospital from September 2017 to July 2019 were enrolled in the study, including 40 cancer patients undergoing surgery, 108 cancer patients without surgery in control group and 23 cancer patients with thrombus. New coagulation and fibrinolysis biomarkers, TM (Thrombomodulin), TAT (Thrombin -antithrombin complex), PIC (Plasmin alpha 2-plasmin inhibitor complex) and t-PAI·C (Tissue plasminogen activator-plasminogen activator inhibitor-1 complex), were tested in every patient. In addition, these new biomarkers are compared with D-dimer. Results: A statistically difference was available on the value of TAT, TM, PIC, t-PAIC, between postoperative cancer patients group and control group (P<0.05, respectively). TAT, TM and PIC in thrombosis cancer group were higher than those in non-thrombosis cancer group (P<0.05; respectively). ROC was used to evaluate the performance of D-dimer, TAT and PIC on thrombosis in cancer patients. The results showed that the AUC of PIC and TAT were both higher than D-dimer (0.871 vs. 0.619; 0.788 vs. 0.619). The specificity of PIC alone was higher than that of D-dimer (91.9% vs. 82.4%), and the sensitivity of PIC and TAT alone was higher than that of D-dimer (73.9% vs. 47.8%, 73.9% vs. 47.8%, respectively). Conclusions The activity of coagulation and fibrinolysis in cancer patients was abnormally enhanced. TAT and PIC were better than D-dimer for the diagnosis of thrombosis in cancer patients.

Venous thromboembolism (VTE) is one of the most serious complications of cancer, which has become the second leading cause of death in cancer patients. Therefore, early prediction and prevention of VTE plays an important role in improving the prognosis of cancer patients.In recent years, with the continuous development of experimental techniques and clinical medicine, the laboratory should pay attention to assist in clinical prediction of tumor thrombosis risk, and understand the predictive model of tumor thrombosis risk, the new progress of predictive indicators and their clinical application potential.

Objective In this study, we aimed to detect the level of total circulating microparticles (MPs) in pregnant women with preeclampsia (PE) and analyze the proteome of MPs to explore their roles in the pathogenesis and progression of PE. Methods 98 pregnant women with PE, 54 healthy pregnant women, and 51 healthy non-pregnant women were enrolled from December 2016 to June 2018, whose MP levels were detected by flow cytometry and compared. Proteins extracted from the MPs were analyzed by high performance liquid chromatography mass spectrometry.Results The total MP level of the healthy pregnant group was significantly higher than thatof the non-pregnant group [159.87 (113.25, 218.18)/μl vs 94.10 (53.35, 140.23)/μl, P=0.004], but was not significantly different from that of the PE group. By proteomic profiling, 30 differential proteins were obtained between healthy pregnant women and healthy non-pregnant women, which were closely related to biological processes such as complements, coagulation cascades, angiogenesis and so on; 14 differential proteins were found between PE patients and healthy pregnant women, which were closely related to biological processes such as coagulation cascades, complements and inflammatory reactions, angiogenesis and so forth. Conclusions The level of circulating MPs may reflect the hypercoagulability of preeclampsia. In addition, circulating MPs may be involved in the pathogenesis of PE through various pathways by carrying different proteins, which indicates their potential value in the intervention of PE.

Objective This study aims to investigate the sex difference in the hippocampus and parahippocampus in patients with bipolar disorder. Methods We acquired T1－weighted structural MRI from 133 bipolar type I patients (60 males) and 144 normal controls (81 males). The General Linear Model was used to examine the relationship between sex and brain volumes of the hippocampus and parahippocampus, with age and intracranial volume as covariates. Results Patients showed significantly smaller volumes of the bilateral hippocampus and parahippocampus (P＜0.01). There were sex－by－diagnosis interactions in the left parahippocampus gyrus (F=6.534, P=0.044). Male patients had significant smaller volumes of the left parahippocampus gyrus compared to the male normal controls (P＜0.001) whereas the volumes were not significantly different between female patients and female normal controls (P＞0.05). Conclusion The results suggest sex difference in the left parahippocampus gyrus volume in patients with bipolar type I disorder, which deserves further investigation in the future bipolar imaging researches.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.