BACKGROUNDA high mortality rate of pancreatic cancer becomes a bottleneck for further treatment with long-term efficacy. It is urgent to find a new mean to predict the early onset of pancreatic cancer accurately. The authors hypothesized that genetic variants of cationic trypsinogen (PRSS1) gene could affect trypsin expression/function and result in abnormal activation of protease activated receptor-2 (PAR-2), then lead to pancreatic cancer. The aim of this study was to elaborate some novel mutations of PRSS1 gene in the patients with pancreatic cancer.

METHODSTotally 156 patients with pancreatic cancer and 220 unrelated individuals as controls were enrolled in this study. The mutations of PRSS1 gene were analyzed by direct sequencing. K-ras Mutation Detection Kit was used to find the general k-ras gene disorder in the pancreatic cancer tissue. Then the clinical data were collected and analyzed simultaneously.

RESULTSThere were two patients who carried novel mutations which was IVS 3 + 157 G > C of PRSS1 gene in peripheral blood specimens and pancreatic cancer tissue. What's more, it was surprising to find a novel complicated mutation of exon 3 in PRSS1 gene (c.409 A > G and c.416 C > T) in another young patient. The complicated mutation made No. 135 and No. 137 amino acid transfer from Thr to Ala and Thr to Met respectively. No any mutation was found in the normal controls while no mutations of k-ras gene were detected in the three patients.

CONCLUSIONMutations of PRSS1 gene may be an important factor of pancreatic cancer.

Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Mutation ; Pancreatic Neoplasms ; genetics ; Trypsin ; genetics

The update of multi-omics technology is a key means to promote the rapid development of accurate health model in the whole life cycle.It can formulate dynamic and accurate nursing measures and provide massive data information from the perspective of nursing biology of health and disease.At present,clinical nursing research faces many challenges such as insufficient application and transformation ability of multi-omics technology.This paper introduces the multi-omics technology,reviews the application status of multi-omics technology in cancer nursing,maternal and child nursing,chronic metabolic disease nursing and symptom management,and puts forward the cross integration and prospect of multi-omics technology and nursing research,so as to strengthen the information mining ability of nurses at different levels of health and disease,and provide an important basis for accelerating the clinical transformation of precision nursing.

BACKGROUNDMutations in the cationic trypsinogen gene (PRSS1) have been detected in patients with hereditary pancreatitis (HP). This study investigated the prevalence of the R122H (c.365 G > A), A121T (c.361 G > A) and D162D (c.488 C > T) mutations or polymorphisms in the common, non-hereditary forms of chronic pancreatitis and in an HP family.

METHODSDNA was prepared from blood samples of 54 patients with chronic pancreatitis (35 alcoholic, 17 idiopathic and 2 hereditary) and 120 normal controls. The PRSS1 genes were amplified by polymerase chain reaction (PCR) and their products were analyzed by sequencing and related clinical data were also collected.

RESULTSA new polymorphism (c.488 C > T) of PRSS1 was found in 25 patients with chronic pancreatitis (including one affected member of the HP family) and six members of the normal controls. The C/T genotype was significantly increased in chronic pancreatitis (OR: 16.379, 95% CI: 5.7522 - 52.3663), the frequency of c.488 C > T change was in according with the Hardy-Weinberg equilibrium, but it doesn't affect the clinical phenotype. The commonly reported change of R122H (c.365 G > A) was not detected in any of the study subjects. c.361 G > A was found in 2 affected members and one unaffected carrier in an HP family. One of the affected members of an HP family had c.361 G > A mutation and polymorphism (c.488 C > T) in the PRSS1 gene at the same time. The patient's clinical values (C3, C4, CA19-9 and HbA1c) were higher than those of the other patients with chronic pancreatitis. The two patients with HP developed diabetes mellitus and their father died with pancreatic cancer.

CONCLUSIONA new polymorphism (c.488 C > T) in the PRSS1 gene is associated with chronic pancreatitis, but it did not affect the clinical phenotype while the A121T (c.361 G > A) mutation in the gene shows a significant correlation in the patients with HP.

Female ; Humans ; Male ; Mutation ; Pancreatitis ; genetics ; Pancreatitis, Chronic ; genetics ; Polymorphism, Genetic ; Trypsin ; Trypsinogen ; genetics

OBJECTIVEBased on the 2002 WHO health survey data, to explore the latent relationship among self-reported health level, the actual level of health, the social demographic characteristics and the risk factors, and to analyze the influence of the various surveillance indicators on self-reported health and the degree that the self-reported health explained the actual level of health.

METHODSField tests for various components of the World health survey were conducted in nine countries during 2002, including India, Brazil, Burkina, Hungary, Nepal, Russia, Spain, Tunisia, and Vietnam (29 971). The survey questionnaire included a self-assessment component and anchoring vignette component. The self-assessment component data was adjusted and eliminated the affect of "cut-point bias" by using the anchoring vignette component data, and then was used to build the structural equation model on the relationship among self-reported health level, actual health level, social demographic characteristics and the risk factors.

RESULTSIn the final structural equation model, "the actual level of health" = 0.80 × "the self-reported health level" + (-0.04) × "the social demographic characteristics" + (-0.08) × "the risk factors" (R(2) = 0.66), and "the self-reported health level" = (-0.70) × "the social demographic characteristics" + 0.10 × "the risk factors" (R(2) = 0.55). The standardized total effect of self-reported health to the actual level of health was 0.80, and that of the social demographic characteristics to the self-reported health and the actual level of health were -0.70 and -0.60, respectively. And the 16 items of self-reported health consisted of 8 dimensions; and sorted by the power of impact to the actual health level, they were mobility, pain and discomfort, sleep, cognition, feelings, self-care ability, visual capacity and interpersonal activities.

CONCLUSIONThere were significant linear correlation relationship between the actual level of health and the self-reported health, as well as between the self-reported health and the social demographic characteristics. And the self-reported 16 items used by the 2002 WHO health survey played an important role in the health evaluation of population.

Demography ; Health Status ; Health Surveys ; Humans ; Models, Statistical ; Risk Factors ; Self Report ; Surveys and Questionnaires ; World Health Organization

Objective:To investigate the predictive value of combined detection of serum microribonucleic acid-30c-5p(miR-30c-5p)and neuroligin-1(NLGN1)for postoperative recur-rence and metastasis in patients undergoing laparoscopic radical resection of colorectal cancer.Methods:A total of 112 colorectal cancer patients who underwent laparoscopic radical resection from August 2021 to August 2022 were regarded as the diseased group.They were separated into a recurrent group(n=28)and a non-recurrent group(n=84)based on whether the patients had recurrence or metastasis within 12 months after surgery.Additionally,92 normal volunteers who underwent physical examinations were as the control group.QRT-PCR was applied to de-tect serum miR-30c-5p and NLGN1 mRNA levels.Multivariate logistic regression was applied to analyze the affecting factors of postoperative recurrence and metastasis in patients.Receiver op-erating characteristic(ROC)curve was plotted to analyze the predictive value of serum miR-30c-5p and NLGN1 mRNA for postoperative recurrence and metastasis in patients.Pearson method was applied to analyze the correlation between miR-30c-5p and NLGN1.Results:The miR-30c-5p level in the diseased group was greatly lower than that in the control group(P＜0.05),and the NLGN1 mRNA level was significantly higher than that in the control group(P＜0.05).Compared with the non recurrent group,the miR-30c-5p level in the recurrent group was significantly re-duced(P＜0.05),while the NLGN1 mRNA level was significantly increased(P＜0.05).There was a statistically significant difference in tissue differentiation between the non-recurrent group and the recurrent group(P＜0.05).Low differentiation of tumor tissues and elevated level of NLGN1 mRNA were risk factors for postoperative recurrence and metastasis(P＜0.05).Elevated level of miR-30c-5p was a protective factor of postoperative recurrence and metastasis(P＜0.05).The AUC of serum miR-30c-5p,NLGN1 mRNA,and their combined prediction for postoperative re-currence and metasta sis in patients was 0.823,0.823,and 0.902,which was greatly better than the individual prediction of miR-30c-5p(Z=2.031,P=0.042)and NLGN1 mRNA(Z=2.239,P=0.025).There was a negative correlation between miR-30c-5p and NLGN1 mRNA levels(r=-0.436,P＜0.05).Conclusion:The dicrease of miR-30c-5p level and increase of NLGN1 mRNA level in laparoscopic colorectal cancer patient has auxiliary predictive value for postoperative recur-rence and metastasis.

The aim of this study was to evaluate the application value of SPECT/PET (18)F-FDG imaging in patients with lymphoma and its significance in monitoring relapse of this disease. A retrospective analysis of 71 SPECT/PET examinations was performed in patients with lymphoma diagnosed by pathologic and immunohistochemistry means from 1998 to 2008 in Peking university first hospital. The results showed that 28 patients underwent SPECT/PET before initial therapy, the accuracy of SPECT/PET and CT were 100% and 81.7% respectively. The diagnostic sensitivity of SPECT/PET and CT for foci were 85.7% and 53.5% respectively, and there was significant difference between them (p = 0.003). The diagnostic sensitivity of SPECT/PET and CT for extranodal foci were 91.3% and 56.5% respectively, there was significant difference also between them (p = 0.007). 32 patients underwent 43 SPECT/PET for monitoring relapse during follow up. The positive predictive value and negative predictive value of SPECT/PET for relapse were 100% and 92.9% respectively. The relapse were found by SPECT/PET in 6 patients more early than appearance of clinical symptoms and physical signs as well as laboratory examination, imaging examination. In conclusion, SPECT/PET has significant value in diagnosing and monitoring relapse for patients with lymphoma.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Fluorodeoxyglucose F18 ; Humans ; Lymphoma ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; diagnostic imaging ; prevention & control ; Retrospective Studies ; Tomography, Emission-Computed, Single-Photon ; methods ; Young Adult

OBJECTIVEThis study was aimed to investigate whether incorporation of rituximab into high-dose chemotherapy with autologous peripheral blood stem cell transplantation (auto-PBSCT)could improve the survival of patients with diffuse large B-cell lymphoma (DLBCL), and evaluate the safety of this regimen.

METHODSTwenty-five patients (age, 17 - 61 yrs) with DLBCL were treated with a sequential chemotherapy for remission induction, intensive chemotherapy for mobilization of stem cells, and high-dose chemotherapy followed by auto-PBSCT. Among 25 patients, 22 cases were at IV Ann Arbor stage, 60% cases with B symptom, and 10 cases with intermediate-high risk and 2 cases with high risk when evaluated by International Prognostic Index (IPI). The high-dose chemotherapy included BEAM regimen for 21 patients, and TBI conditioning regimen for 4 patients. Each patient received infusion of rituximab at a dose of 375 mg/m(2) for 2 times, each at peripheral blood stem cell mobilization and peripheral stem cell infusion.

RESULTS20 patients achieved complete remission (CR) before transplantation. After high-dose chemotherapy and auto-PBSCT, 92% patients achieved CR. At a median follow-up of 45 months, the estimated 3-year overall survival (OS) and progression-free survival (PFS) were 78.9% and 75.9%, respectively, for all patients; while those were 87.4% and 82.4% for patients achieved CR before auto-PBSCT. Multivariate analysis by Cox regression revealed that failure to achieving CR before auto-PBSCT was an independent prognostic factor affecting OS, while factor affecting PFS was IPI scores. Rituximab was generally well tolerated with few side-effects.

CONCLUSIONOur results suggested that the addition of rituximab to high-dose chemotherapy followed by auto-PBSCT was effective and safe for patients with DLBCL.

Adolescent ; Adult ; Aged ; Antibodies, Monoclonal, Murine-Derived ; therapeutic use ; Combined Modality Therapy ; Female ; Humans ; Lymphoma, Large B-Cell, Diffuse ; therapy ; Male ; Middle Aged ; Peripheral Blood Stem Cell Transplantation ; Rituximab ; Transplantation, Autologous ; Young Adult

This study was purposed to investigate the role of NK-alloreactivity and donor-inhibiting or activating KIR gene in predicting prognosis under unmanipulated allogeneic blood and marrow transplantation. A modified polymerase chain reaction sequence specific primers (PCR-SSP) method was used to typing KIR and HLA genotype of donors and recipients. The relationship between donor activating or inhibitory KIR and recipient HLA genotypes on event free survival (EFS), cumulative incidence of malignant relapse and transplant-related mortality (TRM) were investigated retrospectively in 67 patients undergoing hematopoietic stem cell transplantation. The results showed that no effect of 'KIR/HLA mismatched' was detected on acute graft-versus-host disease (aGVHD) and relapse. The EFS of KIR/HLA mismatched group was lower, especially KIR2DL1/HLA-C2 mismatched group (44.8% vs 69.2%, P = 0.043). However, EFS was better for the presence of donor-activating KIR2DS2 (81.3% vs 52.6%, P = 0.052), and the relapse rate was significantly lower for the presence of this genotype (7.7% vs 34.2%, P = 0.05). EFS was worse in patients homozygous for group 1 HLA-C (C1) when donor carries the activating KIR2DS1 (KIR2DS1 positive/HLA-C2-negative group, P = 0.028), and the incidence of aGVHD in this group was significantly higher than that in any other groups (P = 0.028). In multivariate analysis, advanced disease stage, more than two donor-activating KIR, donor KIR2DS2-negative genotype were associated with an reduced disease-free survival (HR = 3.34, 2.19, 3.18;and P = 0.005, 0.053, 0.066). Donor KIR2DS2-negative genotype were also associated with an increased risk of relapse (HR = 6.72, 9.43; and P = 0.019, 0.047). And donor KIR2DS1 positive/recipient HLA-C2 negative group was the only risk factor of TRM (HR = 3.27, 95% CI 1.78 - 9.06, P = 0.023). It is concluded that missing ligand for the donor inhibitory KIR has weak effect on the outcome of unmanipulated HSCT. The activating KIR play an important role in the EFS, relapse and TRM after HSCT. Donor KIR2DS1-positive/recipient HLA-C2-negative group and donor KIR2DS1 gene negative predict poor prognosis. Analysis of KIR genotype and its ligand is important for the selection of best donor and prognostic evaluation in unmanipulated allogeneic HSCT.
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Fingerprinting ; Female ; Genotype ; HLA Antigens ; genetics ; Hematopoietic Stem Cell Transplantation ; methods ; mortality ; Humans ; Male ; Middle Aged ; Prognosis ; Receptors, KIR ; genetics ; metabolism ; Retrospective Studies ; Survival Rate ; Transplantation, Homologous ; Young Adult

The study was aimed to investigate the incidences and risk factors of acute and chronic graft-versus-host diseases (GVHD) and to clarify their effects on relapse and survival of recipients after allogeneic hematopoietic stem cell transplantation (allo-HSCT). The clinical data of 100 cases of allo-HSCT were retrospectively analyzed. The incidences and risk factors of aGVHD and cGVHD, relapse and survival were studied. The results showed that 31 cases developed aGVHD of II - IV grade (34.4%) and 14 cases developed aGVHD of III - IV grade (17.7%). HLA matched or mismatched did not show significant difference in the development of aGVHD of II - IV grade (p > 0.05). Previous occurrence of aGVHD was the risk factor for cGVHD (HR = 2.303, p = 0.088). The female was a favorable factor for cGVHD (HR = 0.401, p = 0.055). The relapse rate was lower in patients who developed cGVHD. The development of aGVHD of II - IV grade was the risk factor for overall survival (p < 0.05). The mortality of patients with aGVHD of III - IV grade and mortality of patients with aGVHD of 0 - I grade were 81.0% and 35.7% respectively, there was very significant difference between them (p = 0.000). In conclusion, till now GVHD and graft-versus-leukemia (GVL) effect can not be separated. The positive effect of GVL could be counteracted by GVHD-related mortality. It is necessary to prevent and control the development of severe aGVHD. The development of local cGVHD may be beneficial to the long-term disease-free survival of patients after allo-HSCT.
Adolescent ; Adult ; Child ; Child, Preschool ; Disease-Free Survival ; Female ; Graft vs Host Disease ; etiology ; mortality ; Hematopoietic Stem Cell Transplantation ; adverse effects ; mortality ; Humans ; Incidence ; Male ; Middle Aged ; Recurrence ; Retrospective Studies ; Risk Factors ; Young Adult

OBJECTIVETo investigate the treatment of primary amyloidosis with high-dose melphalan and autologous hematopoietic stem cell transplantation to further examine the survival, hematologic response, and improvement of amyloid-related organ dysfunction.

METHODSRetrospective analysis of 20 patients with primary amyloidosis treated with autologous hematopoietic stem cell transplantation. The status of major organ function before transplantation, mobilization programs and conditioning regimen as possible risk factors for survival were also investigated.

RESULTSOf 20 cases, 11 out of 15 evaluable cases achieved hematologic response, among them, 6 got complete remission (CR, 40%) and 5 partial remission (PR, 33%). The median onset time was 3.0 months (1.5 - 4.0 months) and 4 months (3 - 5 months), respectively after transplantation. The overall hematologic response was 73%. The 11 hematologic responders also had kidney responses. The median time to achieve kidney response was 3 months (2 - 6 months). The 3-year overall survival of the cohort of cases was 71.4%. The major causes of death were heart failure, renal dysfunction and gastrointestinal bleeding. G-CSF alone could obtain satisfactory mobilization results and most of patients well tolerated to the conditioning regimen of melphalan doses from 140 mg/m(2) to 200 mg/m(2).

CONCLUSIONTreatment of primary amyloidosis with high-dose melphalan followed by autologous peripheral blood stem cell transplantation produced high efficacy. The cardiovascular system involvement, renal dysfunction and the abnormality of coagulation function before transplantation may be the risk factors for survival.

Adult ; Aged ; Amyloidosis ; drug therapy ; mortality ; surgery ; Cardiovascular System ; physiopathology ; Female ; Gastrointestinal Hemorrhage ; physiopathology ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulin Light-chain Amyloidosis ; Kidney ; physiopathology ; Male ; Melphalan ; therapeutic use ; Middle Aged ; Retrospective Studies ; Risk Factors ; Survival Rate ; Transplantation, Autologous ; Treatment Outcome