Objective:To investigate the application value of CT and MRI imageomics based on machine learning method in the diagnosis of pancreatic cancer.Methods:The clinical data of 62 patients with surgically resected and pathologically confirmed pancreatic cancer, who underwent enhanced CT scan, MRI plain or enhanced scan in Shanghai General Hospital between January 2014 and December 2021 were collected. According to the chronological order of surgery, 49 patients from January 2014 to December 2020 were enrolled in the training set and 13 patients from January 2021 to December 2021 were enrolled in the validation set. 3D-slicer 4.8.1 software was used to draw the region of interest in each layer of CT and MRI images for cancerous and paracancerous tissue segment. Image features were extracted by Python and the optimal feature set from the training set data was obtained by using Lasso regression model. The machine learning decision tree model was constructed. The receiver operating characteristic curve(ROC) curve was drawn, and the area under the curve (AUC) was calculated to evaluate the value of these three kinds of imageomics models in the diagnosis of pancreatic cancer.Results:The 1 767 CT features and 1 674 MRI features were obtained from enhanced CT scan, MRI plain scan and enhanced MRI scan, respectively. For the differential diagnosis model of cancerous tissue and paracancerous tissue, the enhanced CT scan data model obtained the optimal feature set involving 6 features, the MRI plain scan model obtained the optimal feature set involving 16 features, and the enhanced MRI scan model obtained the optimal feature set involving 15 features. The diagnostic model based on enhanced CT scan had an AUC of 0.98 in the training set and 1 in the verification group. The AUC of the MRI plain scan and enhanced MRI scan models in both the training set and the validation set was 1. The specificity and sensitivity of machine learning decision tree model based on the three kinds of imageomics models in the diagnosis of cancerous tissue and paracancerous tissue were 100%. For the differential diagnosis model of splenic artery wrapping, the enhanced CT scan model didn′t obtain the optimal features and had no diagnostic efficacy. The MRI plain scan model and enhanced MRI scan model obtained the optimal feature set involving 5 and 4 features, respectively. The AUC of the MRI plain scan model in the training set and the validation set were 0.862 and 0.750, respectively, with diagnostic sensitivity of 93.8% and 50.0%, and specificity of 78.6% and 100%, respectively. The AUC of the enhanced MRI scan model in the training set and the validation set were 0.950 and 0.861, respectively, with diagnostic sensitivity of 90.0% and 93.6%, and specificity of 100% and 78.6%, respectively.Conclusions:Based on the radiomics of CT enhanced, MRI plain scan and enhanced MRI scan, the machine learning diagnostic model has an accuracy of more than 90% in differentiating pancreatic cancer from paracancerous tissue. For the differentiation of splenic artery wrapping in pancreatic cancer, the diagnostic model based on enhanced MRI scan haS the best diagnostic efficiency.

Objective:To compare the efficacy and safety of pegylated liposomal Doxorubicin(PLD)and Epirubicin(EPI)as first-line chemotherapy for diffuse large B-cell lymphoma(DLBCL).Methods:Clinical data of DLBCL patients treated at Zhejiang Cancer Hospital from March 2013 to April 2018 were retrospectively collected.A total of 411 patients who had received first-line chemotherapy were included.Based on age, sex, Ann Arbor staging and other parameters and using the PSM method for 1∶1 matching, 151 patients were assigned into each of the PLD group and the EPI group.Efficacy and adverse events were compared between the PLD group and the EPI group.All patients were followed up for 3 years after treatment to monitor survival.Results:The complete response(CR)rate in the PLD group was 81.5%, and the CR rate in the EPI group was 72.2%.The objective response rate(ORR)of the PLD group was 98%, and the ORR of the EPI group was 96.7%.There was no significant difference in CR rate( χ2=0.478, P=0.489)or ORR between the two groups( χ2=0.007, P=0.934). In the PLD group, myelosuppression occurred in 25 cases(16.6%)and cardiotoxicity-related events in 21 cases(13.9%); in the EPI group, there were 24 cases(15.9%)of myelosuppression and the same number of cases of cardiotoxicity-related events, and there were no significant differences in myelosuppression( χ2=0.018, P=0.895)or cardiotoxicity( χ2=0.174, P=0.677)between the two groups.During the 3-year follow-up, the progression free survival(PFS)rates of the PLD group and the EPI group were 79.1% and 69.6%, respectively, with a statistically significant difference between the two groups( χ2=3.930, P=0.047). Both the PLD group and the EPI group had a 3-year OS rate of 85.2%, with no statistically significant difference between the two groups( χ2=0.402, P=0.538). Conclusions:The 3-year progression-free survival of DLBCL patients with PLD as first-line chemotherapy is significantly better than with EPI, and the 3-year overall survival, short-term efficacy and myelosuppression are comparable to those with EPI.

Objective:To summarize the clinical characteristics, common images, pathogens, and gene mutation types of chronic granulomatosis disease (CGD) in 19 children.Methods:The clinical manifestations, laboratory findings, treatment, and prognosis of 19 patients diagnosed with CGD in Hong Kong University-Shenzhen Hospital from December 2012 to December 2018 were analyzed.Results:The 19 patients were all males and confirmed as CGD by the dihydrorhodamine test and gene sequencing.The age of the first infection was mostly 1 month after birth(13 cases), and the age of clinical diagnosis ranged from 2 months to 10 years.Sixteen mothers were carriers.The patients presented with pulmonary fungal infection (19/19 cases), Bacillus Calmette Guerin (BCG)-osis (14/19 cases), lymphadenitis (14/19 cases), perianal abscess (9/19 cases), skin abscess (5/19 cases) and ulcerative colitis (2/19 cases). There were 59 positive cultures.Pathogens included fungi (9 cases), Klebsiella pneumonia (8 cases), mycobacteria (7 cases), Streptococcus Viridans (5 cases), Escherichia coli (3 cases), gram-positive bacteria (3 cases), Staphylococcus aureus (3 cases), and Burkholderia cenocepacia (2 cases). Gene mutations were found in all 19 patients, including 17 cases of CYBB, 1 case of CYBA and 1 case of NCF2.The type of mutations included nonsense mutations (6 cases), deletion mutations (5 cases, including 2 large fragment deletions), splice mutations (3 cases) and missense mutations (5 cases). Five mutations were novel.Splice mutations in 3 cases often led to skin abscess, perianal abscess and lymphadenitis.Two patients with large deletion mutations had more serious infection than other patients. Conclusions:In China, CGD is characterized with pulmonary infection and disseminated BCG-osis.Mycobacteria are common pathogens of CGD, and fungi are dominant pathogens of CGD.The most common infection is respiratory infection. Klebsiella pneumonia and Escherichia coli often lead to perianal abscess.The relationship between gene mutation types and clinical phenotypes requires further verification by big data.

Colorectal cancer patients with potential resectable liver metastases may benefit from hepatectomy or other local treatment to achieve R 0 resection or no evidence disease after conversion treatment by chemotherapy with or without target therapy. FOLFOX or FOLFIRI combined with cetuximab is appropriate for RAS and BRAF wide type and primary tumor at left-side colon cancer and rectal cancer. It is complex for RAS and BRAF wide type and primary tumor at right-side colon cancer or RAS or BRAF mutated patients. FOLFOXIRI combined with bevacizumab may be the first choice for those patients with young age and good performance score to achieve best conversion chance, while FOLFOX/CapeOx/FOLFIRI combined with bevacizumab could be the second choice. A surgical re-evaluation should be planned every 2 months after initiation of conversion treatment in multi-disciplinary treatment assessment. Once it is demonstrated conversion treatment is successful, surgery should be performed as soon as possible.

Objective:To analyze the clinical course and targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.Methods:The clinical history of a 6-year-old boy with PAPA syndrome, who was admitted to Hong Kong University Shenzhen Hospital in September 2017, was reviewed. His genetic diagnosis was confirmed by whole exome sequencing. The response to targeted therapy was evaluated by comparing the inflammatory markers (erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) and serum cytokines (interleukin (IL)-1, IL-6 and tumor necrosis factor-α (TNF-α)) before and after biological agents treatment. For literature review, "PAPA syndrome" and"PSTPIP1 gene"were used as keywords to retrieve papers published from January 1997 to December 2019 from Pubmed, Wanfang and CNKI database.Results:The patient was a 6-year-old boy, admitted to the hospital due to recurrent joint swelling and pain for more than 4 years. Before treatment, the CRP (256 mg/L), ESR (105 mm/1 h) and cytokines including serum TNF-α (7.43 ng/L), IL-1 (<5 ng/L), IL-6 (301 ng/L) were significantly elevated. Culture of the joint effusion was negative, but the IL-6 level was above 1 000 ng/L. MRI showed osteomyelitis at the lower end of the right femur. Gene detection found a heterozygous variation of PSTPIP1 gene (c.748G>A, p.E250K). Arthralgia once alleviated after the initiation of tocilizumab and infliximab, but recurred after 1 year of treatment. Thereafter, the anti-IL-1 receptor antagonist (Anakinra) was commenced, followed by a significant improvement of the arthralgia, and a complete remission during the follow-up. Besides, the level of CRP, ESR, serum TNF-α, IL-1 and IL-6 were all decreased to normal on the last followed up in December 2019. Literature review found 29 articles and 87 patients in total. The initial symptoms included those of arthritis ( n=58), pyoderma gangrenosum ( n=33), and acne ( n=24). Among all the cases, 13 genotypes were confirmed, and 47 variations involved amino acid p.E250. Steroid and/or biological agents were used in most patients. Conclusions:PAPA syndrome should be suspected in children with recurrent pyogenic sterile arthritis, and an early diagnosis could be achieved by genetic test. Targeted treatment with biological agent may control the symptoms effectively. Biological agents can control symptoms of this disorder effectively.

OBJECTIVE To investigate the relationship between genetic polymorphim of X-ray repair cross complementing gene 1(XRCC1) and EBV infection in NPC cell.METHODS NPC CNE cell strain was divided into different groups depending on its XRCC1 genetic polymorphism,and EBV was transferred into different groups.Characteristics of cells and XRCC1 protein were detected among different groups before and after EBV transferring.RESULTS There was no difference in cell characteristics and XRCC1 protein level among different genotypes in NPC CNE cells strain.After EBV transferring,there was an increasing in cell malignancy in NPC cells,including control group,wild type group,and 194,280,399 mutant genotype groups,and the differences were statistically significant(P>0.05).There was no difference in XRCC1 protein level before and after EBV transferring.Compared with other groups,the increasing in cell malignancy was less in the 194 mutant genotype group before and after EBV transferring,especially in cell migration and proliferation.There were no difference in the increasing of cell malignancy and XRCC1 protein level among control group,wild type and 280,399 mutant genotypes of NPC CNE cells before and after EBV transferring.CONCLUSION The results suggest that EBV transferring can raise the carcinogenicity of NPC cell.After EBV transferring,the 194 mutant genotype is associated with a reduced carcinogenicity of NPC cells compared with other genotypes.

Objective To investigate the therapeutic effect of early stage minimally invasive laparoscopic retroperitoneal approach of catheter drainage on early inflammatory response of severe acute pancreatitis ( SAP ) . Methods 37 SAP patients with peritoneal effusion were divided into the observation group (19 cases with early laparoscopic retroperitoneal approach of catheter drainage )and normal treatment group(18 cases with conventional drainage)using a random number table.All patients were given conventional therapy , such as fasting, gastroin-testinal decompression , anti-infection, fluid resuitation and using gastric acid and trypsin inhibitors .In addition to conventional therapy , the observation group received the early laparoscopic retroperitoneal approach of catheter drainage.The inflammatory indexes responding to acute inflammation such as TNF-α,IL-6,IL-8, IL-10 and C-re-active protein(CRP)were detected before and after treatment .Meanwhile, the date of resume diet, APACHEⅡscores and duration of systemic inflammatory response ( SIRS) , incidence of multiple organ dysfunction syndrome ( MODS) and the mortality were observed .Results The acute inflammatory response occurred in both groups . The plasma levels of TNF-a,IL-6,IL-8,IL-10 and CRP in the two groups decreased obviously after 3-day treat-ment.However, the plasma levels of inflammatory mediators in the normal treatment group increased while those early laparoscopic retroperitoneal approach of catheter drainage group kept decreasing after 7-day treatment .There was a significant difference between the two groups (P<0.01).Time for resuming to diets and duration of SIRS in the observation group were less than those in the normal treatment group ( P<0.01 ) , APACHEⅡscore were significantly less than those in normal treatment group also (P<0.01).The rates of MODS, overall postoperative complication rate and mortality were significantly lower in the observation group (P<0.05).Conclusions Early laparoscopic retroperitoneal approach of catheter drainage can effectively improve the prognosis in patients with SAP and decrease the production of inflammatory mediators .Early laparoscopic retroperitoneal approach of cathe-ter drainage is simple , feasible and micro-invasive with encouraging outcomes , therefore it is an effective and safe treatment option for patients with SAP .

Objective To investigate the feasibility and clinical value of the road drainage after early mini-mally invasive treatment of severe acute pancreatitis (severe acute pancreatitis,SAP).Methods A retrospective analysis were used to investigate the clinical data of 37 patients with SAP in March 2011 to March 2011 after conven-tional treatment and early minimally invasive approach drainage treatment.Drainage of early after minimally invasive approach group were treated by laparoscopic retroperitoneal approach surgery in the early onset,and were removed of necrotic tissue and catheter drainage of the retroperitoneal clearance.Then postoperative double pipe for irrigation and the negative pressure drainage were applied.Two groups of postoperative complications,mortality,medical expenses, length of hospital stay,etc.were compared.Results Early minimally invasive drainage of into the road after acute physiology and chronic health evaluation (APACHE Ⅱ)was superior to the conventional treatment group (P =0.00).The overall incidence of complications and mortality of multiple organ dysfunction syndrome (multiple out-raged dysfunction syndrome,MODS),was superior to the conventional treatment group,and the differences were statis-tically significant (P =0.023,P =0.033,P =0.046).Early into the road drainage of hospitalization expenses after minimally invasive were reduced ((19.74 ±2.22)than (36.15 ±1.92)ten thousand yuan,t =23.989,P =0.000),hospitalization time were shorter (4.76 ±0.64)weeks than (6.03 ±0.73)weeks,t =5.635,P =0.000). Conclusion Early minimally invasive retroperitoneal approach of drainage treatment of SAP can reduce the incidence of complications and mortality,reduce hospitalization expenses,shorten hospitalization time,and has the clinical feasi-bility and application value.

Objective To find the mutation of disease-causing genes of sudden unexplained death syn-drome (SU D S ) in the young by whole exome sequencing in one case. Methods O ne SU D S case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGMTM Systemwith hg19 as reference se-quence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nu-cleotide variation (SN V ), which was missense mutation with allele frequency <1% of myocardial cell. Results Four rare suspicious pathogenic SN V were identified. C ombined with the analysis of convention-al autopsy and pathological examination, the mutation MYOM 2 (8_2054058_G/A ) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively. Conclusion Based on the second genera-tion sequencing technology, analysis of whole exome sequencing can be a newmethod for the death cause investigation of SU D S. The gene MYOM2 is a newcandidate SU D S pathogenic gene for mecha-nismresearch.

OBJECTIVETo analyze linkage disequilibrium of 12 short tandem repeat loci on chromosome X (X-STR) among an ethnic Han population from Guilin, Guangxi, and to study the genetic linkage and haplotype distributions of such loci in 2 linkage groups.

METHODS12 X-STR loci including DXS8378, DXS10159, DXS10162, DXS10164, DXS981, DXS6789, DXS7424, DXS101, DXS7133, GATA165B12, GATA31E08 and DXS7423 were genotyped using an AGCU X12 STR PCR Amplification kit. A total of 119 pedigrees were analyzed for linkage and linkage disequilibrium.

RESULTSTwo mutations were found at DXS7424, and 1 mutation was found at DXS10164. A total of 93 haplotypes of DXS10159-DXS10162-DXS10164 were constructed for 261 unrelated males and females, in addition with 167 haplotypes of DXS6789-DXS7424-DXS101-DXS7133. The values of recombination fraction between DXS10159 and DXS10162, DXS10162 and DXS10164, DXS6789 and DXS7424, and DXS7424 and DXS101 were 0.0269, 0.0236, 0.0505 and 0.0438, respectively.

CONCLUSIONLinkage disequilibrium of X-STR does not only depend on physical and genetic distances. There was incomplete linkage relationship between loci on DXS10159-DXS1016-DXS10164 and DXS6789-DXS7424-DXS101 linkage groups.

Adolescent ; Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Child ; Child, Preschool ; China ; ethnology ; Chromosomes, Human, X ; genetics ; Female ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Microsatellite Repeats ; Middle Aged ; Pedigree ; Young Adult