Objective:To explore the relationship between the occurrence and development of colorectal cancer and the risk of BRCA1 and BRCA2 gene mutations. Methods:Sixty-one patients with colorectal adenocarcinoma admitted to Beijing Friendship Hospital Affiliated to Capital Medical University from January 2022 to March 2022 were tested by second-generation sequencing. Information such as age of onset, gender, histological grade and TNM stage were collected. According to whether the BRCA1 and BRCA2 gene had systemic mutation, the patients were divided into BRCA1 and BRCA2 gene system mutation group and unmutated group. There were 8 cases in the BRCA1 and BRCA2 gene system mutant group and 53 cases in the non-mutant group. The main outcome measures were the relationship between pathogenic or likely pathogenic germline mutations in colorectal cancer and clinicopathological data of patients, including age of onset, gender, tumor location, TNM stage, histological differentiation, and family history. The secondary outcome was the relationship between BRCA1 and BRCA2 gene system mutations and clinicopathological data. Measurement data with normal distribution were expressed as mean±standard deviation ( ± s), and comparison between groups was analyzed using the t-test. Measurement data with non-normal distribution were represented as M ( Q1, Q3), and comparison between groups was analyzed using the Mann-Whitney U test. Measurement data were expressed as the number of cases or percentage (%), and Chi-square test was used for comparison between groups. Results:Among 61 colorectal adenocarcinoma patients, the frequency of pathogenic or potentially pathogenic germ line mutations in colorectal cancer was 13.1% (8/61), and the frequency of BRCA1 and BRCA2 mutations was 3.3% (2/61). The frequency of BRCA1 and BRCA2 mutations was 13.1% (8/61). Women with BRCA1 and BRCA2 mutations (75.0% vs 37.7%, χ2=3.947, P=0.047) and right colon cancer (75.0% vs 26.4%, χ2=7.889, P=0.019) were significantly higher than those without mutation. Conclusions:The frequency of BRCA1 and BRCA2 gene mutation is higher in colorectal cancer patients. BRCA1 and BRCA2 gene mutations are recommended for colorectal cancer patients with a family history of breast or ovarian cancer.

Objective:To investigate the influencing of preoperative biliary drainage on surgery-related complications after pancreaticoduodenectomy.Methods:The retrospective case-control study was conducted. The clinical data of 267 patients with periampullary space-occupying lesion who were admitted to Beijing Friendship Hospital of Capital Medical University from January 2016 to July 2020 were collected. There were 166 males and 101 females, aged 61 (range, 54?84)years. Observation indicators: (1) comparison of preoperative situations in patients with and without preoperative biliary drainage; (2) comparison of intraoperative and postoperative situations in patients with and without preoperative biliary drainage; (3) methods and efficacy of preoperative biliary drainage; (4) factors influencing surgery-related complications after pancreaticoduodenec-tomy. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M(rang) or M( Q1, Q3), and comparison between groups was conducted using the Mann-Whitney U test. Count data were described as absolute numbers or percentages, and comparison between groups was conducted using the chi-square test. Univariate analysis was conducted using the corresponding statistical methods based on data type. Multivariate analysis was conducted using the Logistic stepwise regression model. Results:(1) Comparison of preoperative situations in patients with and without preoperative biliary drainage. Of the 267 patients, there were 104 cases with preoperative biliary drainage and 163 cases without preoperative biliary drainage. Cases with malignant tumor, cases with borderline tumor, cases with chronic pancreatitis were 89, 13, 2 in patients with preoperative biliary drainage, versus 111, 41, 11 in patients without preoperative biliary drainage, showing significant differences in pathology type between them ( χ2=10.652, P<0.05). (2) Comparison of intraoperative and postoperative situations in patients with and without preoperative biliary drainage. There was no significant difference in operation time, volume of intra-operative blood loss, postoperative complications, grade B pancreatic fistula, grade C pancreatic fistula, biliary leakage, abdominal or gastrointestinal bleeding, incidence of abdominal infection, white blood cell count at postoperative day 1, white blood cell count at postoperative day 3, neutrophil-to-lymphocyte ratio at postoperative day 1, neutrophil-to-lymphocyte ratio at postoperative day 3, C-reactive protein-albumin ratio at postoperative day 1, C-reactive protein-albumin ratio at post-operative day 3, duration of hospital stay between the 104 patients with preoperative biliary drainage and the 163 patients without preoperative biliary drainage ( P>0.05). (3) Methods and efficacy of preoperative biliary drainage. Of the 104 patients with preoperative biliary drainage, there were 40 cases receiving endoscopic nasobiliary drainage with drainage time as (12±2)days, there were 38 cases receiving percutaneous transhepatic cholangial drainage with drainage time as (7±1)days, and there were 26 cases receiving endoscopic retrograde biliary drainage with drainage time as (19±2)days. The total bilirubin, direct bilirubin, aspartate transaminase, alanine aminotrans-ferase in 104 patients were (223±18)μmol/L, (134±11)μmol/L, (112±10)U/L, (160±16)U/L before biliary drainage and (144±13)μmol/L, (84±8)μmol/L, (79±8)U/L, (109±12)U/L after biliary drainage, showing significant differences in the above indicators ( t=3.544, 3.608, 2.523, 2.509, P<0.05). (4) Factors influencing surgery-related complications after pancreatocoduodenectomy. Results of multi-variate analysis showed that operation time was an independent factor influencing surgery-related complications after pancreaticoduodenectomy ( odds ratio=1.005, 95% confidence interval as 1.002?1.008, P<0.05). Conclusions:Preoperative biliary drainage does not increase the incidence of complications related to pancreaticoduodenectomy in patients with periampullary space-occupying lesion. Operation time is an independent factor influencing postoperative surgery-related complications.

Objective:To investigate the effect of the duration of preoperative biliary drainage on postoperative complications after pancreaticoduodenectomy.Methods:The clinical data of 102 patients with benign and malignant hepatopancreatic ductal periampullary tumors who underwent pancreaticoduodenectomy and preoperative biliary drainage in Beijing Friendship Hospital, Capital Medical University from January 2016 to July 2020 were retrospectively analyzed. According to the median duration of preoperative biliary drainage, the patients were divided into short-term drainage group (≤ the median duration of biliary drainage) and long-term drainage group (> the median duration of biliary drainage). The general data, the effect of biliary drainage, inflammation-related indicators and postoperative complications were compared between the two groups. Multivariate logistic regression was used to screen the risk factors related to the postoperative severe complications.Results:Of the 102 patients, 68 (66.7%) were males and 34 (33.3%) were females, with a median age of 63 years (43-80 years). The median duration of preoperative biliary drainage was 14 d. There were 68 patients in short-term drainage group and 34 patients in long-term drainage group. There were no statistically significant differences in age, gender, body mass index (BMI), hypertension, diabetes mellitus, surgery history of upper abdominal, American Society of Anesthesiologists (ASA) grade, carcinoembryonic antigen, carbohydrate antigen 125, alpha-fetoprotein, prothrombin time, pancreaticojejunostomy method, operation time, and pathological type between the two groups (all P > 0.05). However, patients in long-term drainage group had higher conversion rate, more blood loss and longer hospital stay compared with those in short-term drainage group (all P < 0.05). Before biliary drainage, alanine aminotransferase (ALT) level in short-term drainage group was higher than that in long-term drainage group ( Z = -2.59, P = 0.009), and there were no statistically significant differences in aspartate aminotransferase (AST), albumin (ALB), total bilirubin (TB) and direct bilirubin (DB) levels between the two groups before biliary drainage (all P > 0.05). After biliary drainage, DB in short-term drainage group was higher than that in long-term drainage group ( Z = -3.34, P = 0.001), and there was no statistically significant difference in ALT, AST, ALB, TB levels between the two groups (all P > 0.05). There were no statistically significant differences in the levels of white blood cells, neutrophils, lymphocytes and the ratio of neutrophils to lymphocytes between the two groups on the 1st and 3rd day after the operation (all P > 0.05). The total incidence of postoperative related complications in short-term drainage group and long-term drainage group was 63.2% (43/68), 70.6% (24/34), respectively, and the difference was statistically significant ( χ2 = 0.54, P = 0.461); the incidences of bile leakage, abdominal or gastrointestinal bleeding, intra-abdominal infection, delayed gastric emptying, all grades of pancreatic leakage, grade B and C pancreatic leakage were not statistically different between the two groups (all P > 0.05); the incidence of severe postoperative related complications in short-term drainage group was higher than that in long-term drainage group [27.9% (19/68) vs. 8.8% (3/34), χ2 = 4.90, P = 0.027]. Multivariate logistic regression analysis showed that the long-term preoperative biliary drainage was an independent protective factor for postoperative severe complications (long-term drainage vs. short-term drainage: OR = 0.253, 95% CI 0.066-0.975, P = 0.046), while BMI ( OR = 1.174, 95% CI 0.986-1.398, P = 0.071) and pathological type (benign or borderline vs. malignant tumor: OR = 0.247, 95% CI 0.043-1.419, P = 0.117) were not independent influencing factors for postoperative severe complications. Conclusions:Short-term biliary drainage (≤14 d) is a risk factor for postoperative severe complications in patients with hepatopancreatic ductal periampullary tumor undergoing preoperative biliary drainage. Preoperative biliary drainage time is not associated with postoperative total complications, pancreatic leakage, bile leakage, abdominal or gastrointestinal bleeding, intra-abdominal infection, delayed gastric emptying.

Objective:To investigate the predictive value of visceral adipose for early major complications after rectal cancer surgery by CT scan.Methods:A retrospective case-control study method was used to recruit a total of 135 patients with rectal cancer who underwent radical resection at Beijing Friendship Hospital, Capital Medical University from January 2017 to June 2018. There were 89 males and 46 females, aged from 30 to 88 years, with a median age of 63 years. The patients were divided into complication group ( n=16) and control group ( n=119) according to whether serious complications occurred within 30 days after operation. Measurement data with normal distribution were expressed as Mean±SD, and comparison between groups was analyzed by using independent sample t-test. Measurement data with skewed distribution were represented as M ( Q1, Q3) and analyzed by using the Mann-Whitney U test. Count data were expressed as constituent ratio, and analyzed using the chi-square test or Fisher exact test. Logistic regression model was used to analyze the factors affecting the occurrence of early severe complications after radical resection of rectal cancer. The area under the receiver operating characteristic (ROC) curve (AUC) was used to analyze the predictive ability of the model for early severe complications after radical resection of rectal cancer. Results:Univariate analysis showed that there were significant differences in intraoperative blood loss [100 (62, 187) mL vs 50 (40, 100) mL, Z=-2.038, P=0.042], operation time [(325 (212, 375) min vs 260 (180, 310) min, Z=-2.04, P=0.041)], preoperative blood glucose [4.67 (4.44, 5.09) mmol/L vs 5.20 (4.80, 5.72) mmol/L, Z=-3.33, P=0.001] and visceral fat area/subcutaneous fat area (V/S) (1.23±0.54 vs 0.96±0.40, t=-2.39, P=0.018) between the complication group and the control group. Multivariate Logistic regression model showed that V/S ratio ( OR=3.978, 95% CI: 1.160-13.636, P=0.028) and preoperative blood glucose level ( OR=0.168, 95% CI: 0.055-0.512, P=0.002) were independent risk factors for early major complications after radical resection of rectal cancer. Conclusions:Visceral fat and preoperative blood glucose level are independent risk factors for early major complications after radical resection of rectal cancer, V/S is expected to be a predictor of early major complications after radical resection of rectal cancer.

Objective:To explore whether there are gender differences in clinical and pathological characteristics and prognosis of young patients with rectal cancer (under 50 years old), and to analyze the risk factors affecting the prognosis of young patients with rectal cancer.Methods:The medical records of 85 young rectal cancer patients admitted to Beijing Friendship Hospital Affiliated to Capital Medical University from January 2015 to December 2020 were retrospectively collected. According to gender, they were divided into male group ( n=50) and female group ( n=35). The age was (43.67±5.50) years old, ranging from 26 to 50 years old. Primary outcome measures were sex, disease-free survival, and overall survival. Secondary outcomes were family history, body mass index (BMI), clinical stage, anemia, whether the female patient was menopausal, whether the female patient took oral estrogen, the location of the primary lesion, whether neoadjuvant therapy was performed, pathological stage, whether accompanied with vascular nerve invasion, and whether postoperative adjuvant therapy was performed. R4.0.2 software was used for statistical analysis. The measurement data with normal distribution in the collected data were expressed as mean±standard deviation ( ± s), and the comparison between groups was analyzed by t test. Count data were expressed as constituent ratio, and analyzed using the chi-square test or Fisher′s exact test. The survival curve was drawn by Kaplan-Meier method, and the difference in survival rate was tested by Log-rank test. Factors with statistical significance in univariate analysis were included in COX proportional regression model for multivariate analysis to screen independent risk factors affecting overall survival. Results:Compared with male patients, a higher proportion of young female patients with rectal cancer were diagnosed with anemia before surgery (42.9% vs 22.0%, P=0.040). The 1-year, 3-year and 5-year overall survival rates were 94.3%, 80.0% and 68.6% in young female patients, and 98.0%, 90.0% and 90.0% in young male patients, respectively. The median disease-free surival was 31.6 months for women and 34.4 months for men. Multivariate analysis showed that female( HR=3.799, 95% CI: 1.312-11.002, P=0.014)and BMI( HR=0.846, 95% CI: 0.724-0.989, P=0.036)were independent risk factors affecting the prognosis of young patients with rectal cancer. Conclusions:Young female patients have a worse prognosis than male patients. Female and BMI are independent risk factors for the prognosis of young rectal cancer patients, and gender should be the key research object of observation in young rectal cancer patients.

Objective:To describe the spectral-domain optical coherence tomography (SD-OCT) features of retinal tuft.Methods:A retrospective clinical study. From May 2019 to April 2020, 22 patients (22 eyes) diagnosed as retinal tuft by clinical fundus examination in Eye Hospital of Wenzhou Medical University at Hangzhou were included in the study. There were 9 eyes in 9 males and 13 eyes in 13 females. All patients underwent ultra-widefield laser scanning fundus photography and SD-OCT examination. SD-OCT was performed with a 55° wide-angle lens to observe the morphology, color, size and location of the lesions.Results:Twenty-six retinal tuft lesions were found in 22 eyes, all of which were solitary, gray, thylakoid and protrusion. SD-OCT images showed that all the lesions of retinal tuft showed a local protuberant appearance with moderate and hyperreflectivity, which was higher than the surrounding retina plane. In 22 lesions (84.62%, 22/26), there were one or more irregular hyporeflective cavities between the retinal neuroepithelial layers, and the other 4 lesions (15.38%,4/26) contained no hyporeflective cavities. In addition, 23 cases (88.46%, 23/26) with hyperreflective condensed cortical vitreous attached to the retina at the top of lesions, 8 cases (30.77%, 8/26) with retinal tear, and 6 cases (23.08%, 6/26) with shallow retinal detachment.Conclusions:In SD-OCT, the retinal tufts show moderate and strong local protrusion, which are higher than the surrounding retinal plane. In most of the lesions, there are multiple or single irregular weak reflex cavities, and there are hyperreflective condensed cortical vitreous attached to the retina at the top of lesions. Local retinal tears or shallow retinal detachment are present in some lesions.

Objective:To compare the safety and efficacy of continuous transversus abdominis plane (CTAP) block and patient-controlled intravenous analgesia (PCIA) in abdominal surgery postoperatively.Methods:PubMed, Embase, Web of Science, CNKI and other English and Chinese databases were searched since their establishment to February 2021 with "continuous/modified, transversus/transverse abdominis plane block, TAP block, patient controlled analgesia, patient-controlled analgesia, patient controlled intravenous analgesia, patient-controlled intravenous analgesia, PCA/PCIA/IV-PCA" as the search keywords. According to the analgesia treatment methods, patients were divided into continuous transversus abdominis plane block group (CTAP group) and patient-controlled intravenous analgesia group (PCIA group). Review Manager 5.4 software was used to conduct a Meta-analysis on outcome indicators such as postoperative nausea and (or) vomiting (PONV), dizziness, pain score and recovery status after abdominal surgery. Risk ratio ( RR) was calculated for counting data, Mean ± SD was calculated for measurement data. Heterogeneity was measured by I2, and related data were analyzed by using either a fixed effects model or a random effects model. Results:(1) The results of literature search: A total of 6 randomized controlled trials, including 2 published in English and 4 published in Chinese were analyzed, involving 479 patients. The results of the Meta-analysis: Compared with PCIA, CTAP block had lower incidence of PONV ( RR=0.22, 95% CI: 0.08-0.62, P<0.01), lower incidence of dizziness ( RR=0.27, 95% CI: 0.09-0.79, P=0.02), lower pain scores on movement at 24 h ( MD=-0.75, 95% CI: -1.42--0.08, P=0.03) and 48 h ( MD=-0.68, 95% CI: -1.05--0.31, P<0.001) postoperatively, and earlier time of first mobilization ( MD=-0.49, 95% CI: -0.69--0.30, P<0.001) and first exhaust ( MD=-10.47, 95% CI: -13.53--7.41, P<0.001), with statistically significant differences. However, there were no statistically significant differences in pain scores at rest at 24 h ( MD=-0.25, 95% CI: -0.57-0.08, P=0.14) and 48 h ( MD=-0.15, 95% CI: -0.39-0.09, P=0.22) postoperatively and postoperative length of hospital stay ( MD=-1.01, 95% CI: -2.28-0.26, P=0.12). Conclusion:CTAP block is a relatively safe and effective analgesic method, and it′s more consistent with the concept of enhanced recovery after surgery (ERAS) and can be recommended as an alternative method of PCIA.

The Genome Sequence Archive (GSA) is a data repository for archiving raw sequence data, which provides data storage and sharing services for worldwide scientific communities. Considering explosive data growth with diverse data types, here we present the GSA family by expanding into a set of resources for raw data archive with different purposes, namely, GSA (https://ngdc.cncb.ac.cn/gsa/), GSA for Human (GSA-Human, https://ngdc.cncb.ac.cn/gsa-human/), and Open Archive for Miscellaneous Data (OMIX, https://ngdc.cncb.ac.cn/omix/). Compared with the 2017 version, GSA has been significantly updated in data model, online functionalities, and web interfaces. GSA-Human, as a new partner of GSA, is a data repository specialized in human genetics-related data with controlled access and security. OMIX, as a critical complement to the two resources mentioned above, is an open archive for miscellaneous data. Together, all these resources form a family of resources dedicated to archiving explosive data with diverse types, accepting data submissions from all over the world, and providing free open access to all publicly available data in support of worldwide research activities.

To unravel the genetic mechanisms of disease and physiological traits, it requires comprehensive sequencing analysis of large sample size in Chinese populations. Here, we report the primary results of the Chinese Academy of Sciences Precision Medicine Initiative (CASPMI) project launched by the Chinese Academy of Sciences, including the de novo assembly of a northern Han reference genome (NH1.0) and whole genome analyses of 597 healthy people coming from most areas in China. Given the two existing reference genomes for Han Chinese (YH and HX1) were both from the south, we constructed NH1.0, a new reference genome from a northern individual, by combining the sequencing strategies of PacBio, 10× Genomics, and Bionano mapping. Using this integrated approach, we obtained an N50 scaffold size of 46.63 Mb for the NH1.0 genome and performed a comparative genome analysis of NH1.0 with YH and HX1. In order to generate a genomic variation map of Chinese populations, we performed the whole-genome sequencing of 597 participants and identified 24.85 million (M) single nucleotide variants (SNVs), 3.85 M small indels, and 106,382 structural variations. In the association analysis with collected phenotypes, we found that the T allele of rs1549293 in KAT8 significantly correlated with the waist circumference in northern Han males. Moreover, significant genetic diversity in MTHFR, TCN2, FADS1, and FADS2, which associate with circulating folate, vitamin B12, or lipid metabolism, was observed between northerners and southerners. Especially, for the homocysteine-increasing allele of rs1801133 (MTHFR 677T), we hypothesize that there exists a "comfort" zone for a high frequency of 677T between latitudes of 35-45 degree North. Taken together, our results provide a high-quality northern Han reference genome and novel population-specific data sets of genetic variants for use in the personalized and precision medicine.

Some of the recombinant protein therapeutics with short half-life requires high frequent dose or injection, which results in poor patient compliance. This challenge has prompted the development of long-acting recombinant proteins in recent years. Four strategies and methods, including chemical modification, protein engineering, fusion proteins and protein glycosylation are used to modify protein molecule and finally obtain improved pharmacokinetics (PK) properties. This article reviews the four strategies of half-life extension and presents a detailed list of long-acting therapeutics on US, EU and China markets.