Objective:To explore the cognition and use experience of residents based on technical acceptance model, and provide decision-making information and reference for the promotion and optimization construction of the smart ward.Methods:Based on the technical acceptance model, the research team made cognitive and experience evaluation questionnaire of hospitalization patients of the smart wards and evaluated its reliability. By adopting cross-sectional research methods, 368 patients who were hospitalized in the smart wards of the 10 leading clinical specialty in"136" Xingyi Project in Shanxi Province were selected as research objects from January to April 2022. The cognitive and experience evaluation questionnaire of hospitalization patients of the smart wards were used to conduct investigations and research.Results:Among 368 patients, male 148 cases, female 220 cases, aged 18 to 70 years old. The overall Cronbach α coefficient of the questionnaire was 0.887, which had a good degree of reliability. In the cognition and experience evaluation of the smart wards, the five dimensions of perception of usefulness, perception of ease of use, perception safety, attitude and willingness to use were (4.76 ± 0.38),(4.75 ± 0.46), (4.75 ± 0.46), (4.72 ± 0.19), (4.73 ± 0.55), (4.77 ± 0.27) points respectively, the proportion of "very agreed" was 80.16% (295/368); the overall satisfaction of the smart wards scored (4.76 ± 0.35) points, the proportion of "very satisfied" was 79.35% (292/368). Conclusions:The application of the smart ward in the nursing work of inpatients will help optimize the patients′ medical service experience and improve the satisfaction of hospitalization.

Pulmonary mucinous adenocarcinoma is a subtype of lung adenocarcinoma, among which invasive mucinous adenocarcinoma (IMA) is the most common subtype and is easily misdiagnosed as pneumonia. Its etiology and pathogenesis are unclear and may be related to gene mutations and other factors. Due to its relative rarity and few related studies, guidelines do not provide advices on its treatment. KRAS mutations are common in IMA patients, and Sotorasib may be effective against KRAS G12C mutated IMA. NRG1 fusion is considered to be an important driver of IMA, and afatinib may be effective in treating IMA with NRG1 fusion/rearrangement. PD-L1 expression is very low in IMA patients, while B7-H3 expression is high, so B7-H3 may be a potential immunotherapeutic target.

OBJECTIVE: To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome. METHODS: Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR. RESULTS: Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents. CONCLUSION Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.
Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities ; DNA Copy Number Variations ; Female ; Genetic Testing ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics* ; Mutation

The incidence rate of ovarian cancer ranks the third among female malignant tumors, the mortality rate ranks the first and the prognosis is poor. Ovarian cancer poses a serious threat to the health of women's lives. The incidence of ovarian cancer is related to heredity, endocrine disorders and adverse lifestyle factors. In recent years, some scholars have carried out the impact of lifestyle, especially shift work, on the occurrence and development of ovarian cancer. Shift work can lead to circadian disruption, which affects hormonal balance in the body and may be a risk factor for ovarian cancer. This review summarizes four cohort studies and two case-control studies on the relation between shift work and ovarian cancer. The conclusion of the studies is inconsistent, suggesting that further researches are needed.

Ovarian cancer, one of the gynecological malignancies, poses a serious threat to women's health. The machine learning combines statistics and computer science. Researchers apply the machine learning to the clinical diagnosis and prognosis research of ovarian cancer. This article reviews the applications of machine learning in ovarian cancers. The results show that the predictive ability of machine learning models is better than traditional statistical models, but further test and verification are needed in prospective large-scale studies.

Objective:To screen and analyze the prognostic protein biomarkers of DLBCL, and to explore their value in the prognostic evaluation.Methods:163 cases of confirmed DLBCLs from January 2011 to December 2016 were collected with their clinical, pathological and follow-up data, which were all from our hospital. The expression of protein markers were tested using immunohistochemical staining (IHC) . The immune phenotypes independent of the International Prognostic Index (IPI) that affect overall survival (OS) and progression-free survival (PFS) of DLBCL were explored by COX regression model, and the effect of their co-expression on the prognosis were also analyzed.Result:BCL6 negative (PFS: HR=1.652, 95% CI 1.030-2.649, P=0.037) , P53 positive (OS: HR=1.842, 95% CI 1.008-3.367, P=0.047) , and BCL2 strong positive expressions (S+) (OS: HR=2.102, 95% CI 1.249-3.537, P=0.005; PFS: HR=2.126, 95% CI 1.312-3.443, P=0.002) are adverse prognostic factors of DLBCL that are independent of IPI. BCL6 - (PFS: HR=2.042, 95% CI 1.021-4.081, P=0.043) , P53 + (OS: HR=3.069, 95% CI 1.244-7.569, P=0.015) and BCL2 S+ (OS: HR=2.433, 95% CI 1.165-5.082, P=0.018; PFS: HR=3.209, 95% CI 1.606-6.410, P=0.001) are adverse prognostic factors in the group of age≤60-year-old; in the group of IPI score 0-2, cases with BCL6 - (OS: HR=2.467, 95% CI 1.322-4.604, P=0.005; PFS: HR=2.248, 95% CI 1.275-3.965, P=0.005) and BCL2 S+ (PFS: HR=2.045, 95% CI 1.119-3.735, P=0.020) have worse prognosis. The co-expression of BCL6 - and BCL2 S+ has significant influence on prognosis of DLBCL ( P=0.005 and P<0.001) , in which BCL6 +/non-BCL2 S+ ( n=86) has the best prognosis[3-year-OS (71.6±4.9) %, 3-year-PFS (67.0±5.1) %], and BCL6 -/BCL2 S+ ( n=10) has the worst prognosis[3-year-OS (20.0±12.6) %, 3-year-PFS (10.0±9.5) %]; the co-expression of BCL6 - and P53 + has no significant influence on prognosis ( P=0.061 and P=0.089) , however, those cases with BCL6 +/P53 - ( n=98) often get better prognosis[3-year-OS (70.6±4.7) %, 3-year-PFS (64.6±4.9) %] than others; the co-expression of P53 + and BCL2 S+ has significant influence on prognosis of DLBCL ( P<0.001 and P<0.001) , and P53 +/BCL2 S+ ( n=5) has the worst prognosis (3-year-OS and 3-year-PFS are both 0) ; BCL2 S+ cases get shorter OS and PFS, regardless of the expression of BCL6 and P53. Conclusion:The expression and co-expression of BCL6 negative, P53 positive and BCL2 S+ have certain value in the prognostic evaluation of DLBCL, especially in the group of age≤60-year-old and IPI score 0-2.

Objective:To summarize the clinical and pathological features of intravascular NK and T cell lymphoma for better understanding of such disease to reduce misdiagnosis and miss-diagnosis.Methods:Clinical and pathological features were analyzed retrospectively in one case of intravascular peripheral T-cell lymphoma, not otherwise specified (IVPTCL, NOS) , with literatures review.Results:The case presented in this study was a 66-year-old man. PET/CT scan showed multiple lymph nodes enlargement throughout the body. Normal lymph node structure could not be observed by tissue biopsy, while lymph follicles were partially disrupted. High-power light microscope revealed a large number of blood vessels with diffuse proliferation and dilation, where atypical lymphoid cell mass was restricted in the lumen and partially infiltrated the large blood vessel wall. These tumor cells were medium to large with moderate cytoplasm. The nucleus was irregular, single or multiple nucleoli could be seen, chromatin was condensed, some were empty and bright, and mitotic figures could be seen. Immunohistochemical staining showed that the neoplastic cells were positive for expression of CD3, CD43, CD8, GrB, TIA-1 and perforin. EBER in situ hybridization result was negative. Polymerase chain reaction test identified a clonal gene rearrangement of T-cell receptor γ. The patient was treated with CHOP in combination with chidamide, but died of infection and cardiopulmonary failure within 2 months. 56 cases of intravascular NK/T cell lymphoma with definite classification were collected from relevant literatures, including 47 cases with nasal type of extranodal NK/T cell lymphoma (27 were male and 20 were female) , 8 cases with anaplastic large cell lymphoma (3 males and 5 females) , and only one case with de nova IVPTCL, NOS in brain. We report the second case of IVPTCL,NOS, and notably originated from lymph node for the first time.Conclusions:Intravascular NK/T cell lymphoma is a highly aggressive disease with no effective treatment at present. Involvement of Lymph node has rarely been reported, and further studies on more cases are necessary.

OBJECTIVE: To delineate the clinical feature and genetic basis of four patients with congenital neutropenia. METHODS: All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing. RESULTS: The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically. CONCLUSION The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study.
Congenital Bone Marrow Failure Syndromes/genetics* ; Female ; Genetic Testing ; Humans ; Infant ; Leukocyte Elastase/genetics* ; Male ; Mutation ; Neutropenia/genetics*

Surgical resection is the best method for patients with colorectal cancer liver metastases. However, tumor recurrence rate is still high after surgery. Preoperative chemotherapy can help shrink the tumor, test biological behavior, and reduce recurrence rate; but it may also cause liver injury and delay surgery. There is still controversy whether neoadjuvant chemotherapy should be performed and how to select patients from chemotherapy before surgery. Thus, in this article, combined the research progress and the clinical experience of author's center, we discuss this issue in 4 aspects: the development of neoadjuvant chemotherapy; the indications and guideline recommendation for neoadjuvant chemotherapy; the selection of neoadjuvant chemotherapy regimens; common problems in neoadjuvant chemotherapy.

Objective To explore the rare nonsynonymous variants of ABCA1 gene in primary open angle glaucoma (POAG).Methods A prospective cohort study was carried out.Three hundred and ninety-eight POAG patients and 198 healthy controls matched in age and gender were recruited from March 2017 to March 2018 in Eye and Ear Nose Throat (ENT) Hospital of Fudan University.The periphery blood of 2-5 ml from all the subjects was collected for extraction of DNA,and rare variant analysis of the ABCA1 gene was conducted by whole exome sequencing (WES) data of these subjects.The study protocol was approved by Ethic Committee of Eye and Ear Nose Throat Hospital of Fudan University and Sichuan Provincial People's Hospital (No.2016-32-1,and written informed consent was obtained from each subject prior to entering the study cohort.Results A total of 21 rare nonsynonymous variants (minor allele frequency MAF＜0.O1) were detected in the coding regions of ABCA1 gene in 27 subjects of the 398 POAG,with the detection rate of 6.8％.Among them,c.4310C＞A (p.Thr1437Asn),c.3772G＞T(p.Asp1258Tyr),c.775A＞G (p.Lys259Glu) and c.1507_1508insGAGGT (p.Glu503GlyfsX7) were four novel variants.In the 198 healthy controls,five rare nonsynonymous variants were detected in the ABCA1 gene from five subjects respectively,with the detection rate of 2.5％,the detection rate of nonsynonymous in POAG group was higher than that in healthy control group,showing a significant difference (x2=4.72,P =0.03,OR =2.81).Conclusions Rare nonsynonymous variants in ABCA1 is associated with the pathogenesis of POAG.These variants can enrich the variation spectrum of ABCA1.