OBJECTIVE: To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS. METHODS: A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and Trios-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP++, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). "PQBP1 gene" "Renpenning syndrome" "PQBP1 gene" "Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). RESULTS The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c.459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+PS4+PM2_Supporting+PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. CONCLUSION: The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c.459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.
Humans ; Male ; Mutation ; Pedigree ; Child ; DNA-Binding Proteins/genetics* ; Nuclear Proteins/genetics* ; Female ; Exome Sequencing

Objective:To explore the effect of family empowerment model based on cloud follow-up in schizophrenia patients and their main caregivers.Methods:From January 2020 to June 2021, 160 schizophrenics and their 160 main caregivers who were admitted to Shaoxing Seventh People's Hospital were selected as the study subject by convenience sampling. According to the method of random number table, the subjects were divided into control group and observation group, with 80 patients and 80 main caregivers in each group. The patients in the control group were given routine nursing, while the patients in the observation group received family empowerment nursing model based on cloud follow-up on the basis of the control group. Both groups of patients were intervened continuously for six months after enrollment. Morisky Medication Adherence Scale-8 (MMAS-8) , Personal and Social Performance Scale (PSP) , Family Environment Scale-Chinese Version (FES-CV) , Self-Perceived Burden Scale (SPBS) , Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) were used to evaluate the drug compliance, personal social function, family function of the two groups of patients, disease burden and negative emotions of main caregivers.Results:After six months of intervention, the medication compliance of observation group was better than control group, the difference was statistically significant ( P<0.05) . The PSP score of patients in the observation group was higher than that of the control group, and the FEC-CV scores in all dimensions of the observation group were better than that of the control group, with statistically significant differences ( P<0.05) . After intervention, the disease burden, SAS and SDS scores of the main caregivers in the observation group were lower than those in the control group, with statistically significant differences ( P<0.05) . Conclusions:The family empowerment model based on cloud follow-up can improve the treatment compliance, personal social function and family environment of schizophrenics, and relieve the disease burden and negative emotions of the main caregivers, which is worthy of clinical practice.

Objective:To assess the accuracy of lung ultrasound(LUS) to predict pneumonia in pediatric patients using meta-analysis.Methods:The PubMed, the Cochrane Library, EMbase databases from January 2015 to March 2020 were searched.The retrieved outcome data to evaluate the efficacy of LUS for the diagnosis of pneumonia in patients under 18 years of age were included.Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies.Meta-analysis was then conducted using MetaDisc 1.4, RevMan 5.3 and Stata 15.0 softwares.Results:Twelve diagnostic studies were included, which involved 2 484 patients.The results of meta-analysis showed that compared with the gold standard, the sensitivity, specificity, positive and negative likelihood ratios, diagnostic odds ratio of LUS were 0.90(95% CI 0.88-0.91), 0.88(95% CI 0.85-0.90), 8.64(95% CI 3.79-19.72), 0.12(95% CI 0.06-0.26) and 77.58(95% CI 28.39-211.99), respectively.The area under the summary receiver operating characteri stic curve was 0.96.Subgroup analysis showed that there was no difference in LUS′s diagnostic accuracy for pneumonia with different department, different diagnostic gold standard, and different level of sonographer training. Conclusion:Current evidence shows that LUS has a high accuracy in the diagnosis of pneumonia in children.

Objective:The study aims to explore the efficacy and safety of low-dose chemotherapy combined with tyrosine kinase inhibitor (TKI) as an induction therapy for Philadelphia-chromosomal-positive acute lymphoblastic leukemia (Ph + ALL) . Methods:The data of the consecutive newly diagnosed patients with Ph + ALL were reviewed. The efficacy and safety of low-dose chemotherapy and conventional-dose chemotherapy combined with TKI were compared. Results:A total of 217 patients with a median age of 38 (10-69) years old were included in this study. 78 patients were in the low-dose chemotherapy group, and 139 patients were in the conventional-dose chemotherapy group. There were no significant differences in the 4-week complete remission (CR) rate (98.7% vs 97.0%, P=0.766) and overall CR rate (100% vs 100%, P=1.000) between the two groups. Multivariate analyses showed that the chemotherapy intensity was not related to the disease-free survival rate and overall survival rate. However, the lower incidence of infection ( P=0.017) , the shorter duration of neutropenia ( P=0.001) and PLT<20 × 10 9/L ( P=0.057) , and the lower red blood cell transfusion volume ( P=0.002) were more common in the low-dose chemotherapy group than in the conventional-dose chemotherapy group. Conclusions:The low-dose chemotherapy is superior to the conventional-dose chemotherapy combined with TKI as induction therapy in Ph + ALL with similar efficacy but is safer.

Objective:To explore the formulation of the evaluation system of nuclear emergency medical rescue drills.Methods:By using the analytic hierarchy process, theoretical analysis and expert consultation, the evaluation system was established, and online questionnaires were used to investigate student satisfaction. Excel software was used for data entry, Matlab 6.5 software was used for weight calculation, and questionnaire data were authorized to SPSSAU online platform to analyze the correlation coefficient between trainees' attitude towards drills and satisfaction of the evaluation system.Results:An evaluation system of nuclear emergency medical rescue drills composed of multiple indicators was constructed, and the weights of each indicator of the system were obtained. The corresponding weights for group comprehensive proficiency, topic theoretical oral examination, personal practice and virtual system were 0.108, 0.557, 0.280 and 0.054, respectively. Simultaneously, the evaluation of the system by the trainees was investigated, and it was found that there was a significant correlation between the trainee's attitude towards the drills and satisfaction with the system.Conclusion:The nuclear emergency medical rescue evaluation system formed in this research is expected to provide theoretical methods for comprehensive evaluation of students' knowledge and capabilities, and at the same time it's helpful to improve the nuclear emergency rescue capabilities of students.

Objective:To investigate the dynamic change and clinical impact of DEK-NUP214 fusion gene in patients with acute myeloid leukemia (AML) receiving allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:Real-time quantitative polymerase chain reaction (RQ-PCR) and multicolor flow cytometry (FCM) were used to detect DEK-NUP214 gene expression and leukemia-associated immunophenotype (LAIP) in 15 newly diagnosed patients with positive DEK-NUP214 and receiving allo-HSCT from September 2012 to September 2017 at Peking University People′s Hospital. The clinical outcome was analyzed using Kaplan-Meier survival curves. The impact of DEK-NUP214 expression was analyzed by log-rank test.Results:The subjects were followed-up with a median period of 657 (62-2 212) days. The median DEK-NUP214 expression level at diagnosis was 488% (274%-1 692%). Thirteen patients achieved complete remission before allo-HSCT. Thirteen patients had a residual DEK-NUP214 expression of 0.38% (0.029%-738.9%) before allo-HSCT. After allo-HSCT, DEK-NUP214 expression in 9/13 patients remained positive, which dropped by around 500 folds (5.7-5 663.0 folds) within a month post-transplant. Five patients died and 2 patients relapsed. The 3-year cumulative incidence of relapse in patients with positive DEK-NUP214 before transplant was 17.5%±11.3% and the 3-year overall survival was 60.5%±13.8%. After allo-HSCT, DEK-NUP214-negative patients had a better outcome.Conclusion:Quantitative monitor of DEK-NUP214 fusion gene could be a sensitive indicator of MRD status after allo-HSCT.

The most common metastatic site of prostate cancer is the bone, followed by the lung, bladder, liver, and adrenal gland. We report on a rare case of pancreatic metastasis from prostate cancer. A 52-year-old patient was admitted to the hospital with epigastric pain for 20 days. PET-CT showed malignant lesions in the prostate and pancreas, and prostate and pancreas puncture biopsies were performed, respectively. The patient was diagnosed as prostate cancer with pancreatic metastasis according to the pathological findings. After undergoing androgen deprivation therapy and docetaxel chemotherapy for 6 cycles, reexamination revealed that the pancreatic metastases had disappeared.

Objective:To explore the application effect of problem-based learning (PBL) combined with situational teaching in medical rescue of nuclear emergency teaching.Methods:The 100 students from Batch 2017 of the Army Medical University were selected as the teaching objects, and the nuclear emergency medical lessons were divided into two parts: the control group (the first 20 lessons) and the experimental group (the last 20 lessons). The control group adopted traditional teaching method, the experimental group adopted PBL teaching mode for theoretical teaching, and situational teaching method for skill practices. The teaching effect of the two groups of students were examined by theoretical examination, skill practical assessment and questionnaire survey. SPSS 17.0 was used for chi-square test.Results:Theoretical examination results of experimental group (77.10±8.11) were higher than those of control group (73.97±7.93), with significant differences ( P<0.01). Practical assessment results of experimental group (78.40±6.35) was higher than those of control group (71.04±7.51), with significant differences ( P<0.01). Concerning the results of theoretical examination, practical assessment and student self-evaluation, the experimental group was superior to the control group in all aspects (all P<0.05). Conclusion:Compared with traditional teaching methods, the PBL combined with situational teaching could encourage the learning interest of students, enhance their ability of independent learning, promote them to master the knowledge and skills of medical rescue of nuclear emergency adroitly, cultivate their team spirit and elevate the practical ability of students.

Objective: To investigate the current status and real performance of the detection of RUNX1-RUNX1T1 fusion transcript levels and WT1 transcript levels in China through interlaboratory comparison. Methods: Peking University People’s Hospital (PKUPH) prepared the samples for comparison. That is, the fresh RUNX1-RUNX1T1 positive (+) bone morrow nucleated cells were serially diluted with RUNX1-RUNX1T1 negative (-) nucleated cells from different patients. Totally 23 sets with 14 different samples per set were prepared. TRIzol reagent was added in each tube and thoroughly mixed with cells for homogenization. Each laboratory simultaneously tested RUNX1-RUNX1T1 and WT1 transcript levels of one set of samples by real-time quantitative PCR method. All transcript levels were reported as the percentage of RUNX1-RUNX1T1 or WT1 transcript copies/ABL copies. Spearman correlation coefficient between the reported transcript levels of each participated laboratory and those of PKUPH was calculated. Results: ①RUNX1-RUNX1T1 comparison: 9 samples were (+) and 5 were (-) , the false negative and positive rates of the 20 participated laboratories were 0 (0/180) and 5% (5/100) , respectively. The reported transcript levels of all 9 positive samples were different among laboratories. The median reported transcript levels of 9 positive samples were from 0.060% to 176.7%, which covered 3.5-log. The ratios of each sample’s highest to the lowest reported transcript levels were from 5.5 to 12.3 (one result which obviously deviated from other laboratories’ results was not included) , 85% (17/20) of the laboratories had correlation coefficient ≥0.98. ②WT1 comparison: The median reported transcript levels of all 14 samples were from 0.17% to 67.6%, which covered 2.6-log. The ratios of each sample’s highest to the lowest reported transcript levels were from 5.3-13.7, 62% (13/21) of the laboratories had correlation coefficient ≥0.98. ③ The relative relationship of the reported RUNX1-RUNX1T1 transcript levels between the participants and PKUPH was not always consistent with that of WT1 transcript levels. Both RUNX1-RUNX1T1 and WT1 transcript levels from 2 and 7 laboratories were individually lower than and higher than those of PKUPH, whereas for the rest 11 laboratories, one transcript level was higher than and the other was lower than that of PKUPH. Conclusion The reported RUNX1-RUNX1T1 and WT1 transcript levels were different among laboratories for the same sample. Most of the participated laboratories reported highly consistent result with that of PKUPH. The relationship between laboratories of the different transcript levels may not be the same.