Objective With the focus on emerging infectious diseases and diseases of unknown cause,the study aims to realize multi-point trigger monitoring of infectious diseases through key monitoring sites and key populations.Methods Using ar-tificial intelligence,deep learning,big data and other information technologies to build an intelligent information center for infec-tious diseases with patients'disease files as the core,construct a core capacity of infectious disease surveillance,early warning and situation prediction,and predict and evaluate the importance of infectious disease warning signals.Results The system cov-ered 1 425 primary-level medical institutions,18 hospitals,2 580+schools,4 134 pharmacies,4 laboratories and civil affairs departments,detected 55 kinds of infectious diseases and 6 kinds of syndrome monitoring signals.Since its launch,121 000 ac-tive notification cards have been issued,more than 54 000 new notification cards have been added,35.256 million times of multi-source monitoring and 14.4 million disease files have been recorded.Conclusion By expanding monitoring content and chan-nels,we realized early monitoring,auxiliary investigation and multi-mode visual early warning of infectious diseases,built a multi-point trigger mechanism,and moved forward the infectious disease surveillance.

Malignant tumors in children are one of the most important diseases that threaten the health and quality of life of children and are the second most common cause of death in children.With the continuous improvement and progress of treatment technology, the long-term survival rate of children with tumor has been significantly improved, but both the disease itself and the treatment can impair the immune function of children, which makes them vulnerable to various infectious diseases and secondary serious complications, and even become a source of infection, endangering the health of others. Vaccination is the most cost-effective measure to prevent infectious diseases. For children with normal immune functions, the benefits of vaccination usually outweigh the disadvantages. However, there is a lack of detailed data on the vaccination situation, efficacy and safety of vaccine use for such immunocompromised tumor survivors, and there are no authoritative and uniform vaccination recommendations. This article reviewed and summarized the literature and consensus of some domestic and foreign scholars on current status of post-treatment vaccination status, efficacy and safety of vaccination for children with tumors after treatment, with the aim of providing a reference for the practice in this field in China.

Objective:To explore the application of triplet-primer PCR (TP-PCR) for the genetic testing and prenatal diagnosis in patients with Myotonic dystrophy type 1 (DM1).Methods:A total of 60 individuals from 48 pedigrees undergoing genetic testing at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from May 2018 to October 2022 were selected as the study subjects. TP-PCR combined with capillary electrophoresis was applied to determine the number of CTG repeats of the DMPK gene, and prenatal testing was provided to four DM1 pedigrees. This study was approved by Medical Ethics Committee of the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36). Results:A total of 52 DM1 patients were detected, mostly with muscle weakness, muscular atrophy and myotonia as the initial symptoms, along with typical myotonic potentials. Some patients also had abnormalities of other systems. The number of abnormal CTG repeats of the DMPK gene was > 50, whilst the number of CTG repeats on the normal allele had ranged from 5 to 18. The number of the most common normal CAG repeats was 6 (30.77%, 16/52). Among the four DM1 pedigrees undergoing prenatal diagnosis, one fetus was healthy, whilst three fetuses were found to have abnormal CTG repeats (> 50 times) and diagnosed with DM1. Conclusion:TP-PCR can diagnose DM1 patients with speed and accuracy. However, this method cannot accurately determine the number of CTG repeats when it exceeds 50.

Objective:To explore the effect of applying standardized patient teaching based on Calgary-Cambridge communication model in nurse patient communication training for junior college interns, and to enrich the teaching methods of nurse patient communication training in domestic medical institutions.Methods:This study was a quasi-experimental study. In July 2022, 78 students were selected from 335 junior college interns in the First Affiliated Hospital of Shandong First Medical University by random coding method, and were randomly divided into the experimental group (39 students) and the control group (39 students) by lot. The control group received routine training. The experimental group received standardized patient teaching based on Calgary Cambridge communication model: teaching the key points of communication, guiding demonstration based on Calgary Cambridge communication model, and guiding reflection and exploration. The nurse patient communication ability, nurse patient communication practice skills, communication self-efficacy, and teaching satisfaction of the two groups of interns were compared between the two groups after 8 weeks of training.Results:After training, the total score of nurse patient communication ability evaluation in the experimental group was (91.41 ± 5.35) points, higher than that in the control group (88.08 ± 7.40) points, there was significant difference ( t=2.24, P<0.05); after training, the communication self-efficacy score of the experimental group was (30.21 ± 4.28) points, higher than that of the control group (27.94 ± 5.09) points, there was significant difference ( t=2.09, P<0.05); the total score of communication practice skills in the experimental group was (173.59 ± 18.48) points, higher than that in the control group (158.44 ± 15.57) points, there was significant difference ( t=3.82, P<0.05); the total score of communication teaching and training satisfaction in the experimental group was (16.77 ± 2.94) points, higher than that in the control group (15.22 ± 1.90) points, and there was significant difference ( t=2.68, P<0.05). Conclusions:The standardized patient teaching based on Calgary Cambridge communication model can effectively improve the practical skills of nurse patient communication of junior college interns, and promote the improvement of their nurse patient communication self-efficacy, which is conducive to the improvement of nurse patient communication ability junior college intern.

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a woman featuring moderate intellectual disability (ID). METHODS: The patient had presented at the First Affiliated Hospital of Zhengzhou University on April 28, 2021. With informed consent, peripheral blood and amniotic fluid samples were collected for the extraction of genomic DNA. Pathogenic copy number variations (CNVs) were detected with CNV-seq, and single gene variants were detected by whole exome sequencing (WES) and Sanger sequencing. Candidate variant was verified by Sanger sequencing, and CNV-seq and multiplex ligation-dependent probe amplification (MLPA) were used to detect fetal CNVs. RESULTS: The 23-year-old woman had moderate ID, sideway walking, and unstable holding. Ultrasonography at 18⁺³ weeks' gestation had revealed no fetal abnormality. No pathogenic CNV was detected in the woman by CNV-Seq, while WES revealed that she has harbored a heterozygous c.1675C>T (p.Arg559*) variant of the DLG4 gene, which was verified by Sanger sequencing. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PVS1+PM2_supporting). Sanger sequencing has confirmed that the fetus has inherited this variant, and CNV-Seq also revealed that that fetus has harbored a 0.1 Mb heterozygous deletion at Xp21.1, which has encompassed the DMD gene, and the result was verified by MLPA. CONCLUSION The heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.
Female ; Humans ; Pregnancy ; Young Adult ; Disks Large Homolog 4 Protein ; DNA Copy Number Variations ; Fetus ; Genetic Testing ; Intellectual Disability/genetics* ; Pregnant Women

Objective:To observe and analyze the effect of double and single bridge exercise on the electromyographic activities of related core muscle groups in stroke patients, and to explore its rules and characteristics.Methods:A prospective cohort study was conducted on 40 stroke patients hospitalized in the Department of rehabilitation medicine, Hefei second people's Hospital, Anhui Province from March 2020 to May 2021.The surface electromyography (sEMG) instrument was used to collect the surface electromyographic signals of erector spinalis, rectus abdominis, gluteus maximus and biceps femoris during double and single bridge exercise, and the root mean square (RMS) and integrated electromyography (iEMG) of the time domain indexes were analyzed. The measurement data conforming to normal distribution was expressed in xˉ± s.The non normal distribution data was expressed in M (Q1, Q3). Wilcoxon rank sum test was used to compare the difference between the two groups. Results:There was significant difference between RMS (30.0 (21.3, 45.5) μV vs. 24.0 (14.0, 35.8) μV) and IEMG (15.5. (10.0, 23.0) μV?s vs. 9.0 (5.0, 13.0) μV?s s) values of gluteus maximus on the healthy side and the affected side during double bridge exercise ( Z values were 2.07, 4.19; P values were 0.039, <0.001, respectively). There was significant difference in RMS (31.0 (15.3, 70.0) μV ratio of the healthy and affected biceps femoris 17.0 (11.0, 28.8) μV) and IEMG (14.5 (8.0, 26.5) μV?s vs. 7.0 (5.0, 10.8) μV?s) values of biceps femoris on the healthy side during double bridge exercise ( Z values were 3.44, 3.64; P values were 0.001 and <0.001, respectively ). There was significant difference between RMS(38.5(32.3, 46.0) μV vs. 35.0(22.3, 43.0) μV) and IEMG (16.5(12.0, 22.8) μV?s vs. 12.0(7.0, 21.0) μV?s) values of the gluteus maximus on the healthy side during single bridge exercise ( Z values were 2.24, 2.45; P values were 0.025, 0.014, respectively). There was significant difference between RMS (38.0 (15.3, 70.0) μV vs. 19.0 (12.0, 35.5) μV) and IEMG (16.0 (10.0, 27.0) μV?s vs. 6.5 (5.0, 12.5) μV?s s) values of biceps femoris on the healthy side during single bridge exercise ( Z values were 2.98,4.34; P values were 0.003 and <0.001, respectively). There was significant difference between RMS (24.0 (14.0, 35.8) μV vs. 35.0 (22.3, 43.0) μV) and IEMG (9.0 (5.0, 13.0) μV?s vs. 12.0 (7.0, 21.0) μV?s) values of double and single gluteus maximus on the affected side ( Z values were 2.24, 1.99; P values were 0.025,0.047, respectively). Conclusion:Double bridge and single bridge exercise could improve the related core muscle groups of stroke patients with hemiplegia, and single bridge was better than double bridge for the activation of gluteus maximus

OBJECTIVE: To explore the genetic etiology of a patient with mucopolysaccharidosis type II (MPSII). METHODS: The IDS gene of the proband and his mother was detected by Sanger sequencing, agarose gel electrophoresis, real-time PCR and multiple ligation-dependent probe amplification (MLPA). Prenatal diagnosis was performed on amniotic fluid sample. RESULTS: Agarose gel electrophoresis, real-time PCR, and MLPA all showed that exon 2 of IDS gene of the proband was deleted, for which his mother was normal. Prenatal diagnosis showed that the fetus was a normal male. CONCLUSION The de novo deletion of exon 2 of the IDS gene probably underlay the MPSII in this patient. Above finding has broadened the mutation spectrum of the IDS gene. The combined methods for the detection of IDS gene mutations could make accurate prenatal diagnosis for MPSII.
China ; Exons ; Female ; Humans ; Male ; Mucopolysaccharidosis II/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis/methods*

Objective:To explore the genetic etiology of a child with suspected propionic acidemia.Methods:Genomic DNA was extracted from peripheral blood sample of the child and subjected to high-throughput sequencing to screen pathogenic variants of genes associated with methylmalonic acidemia and propionic acidemia, including MUT, MMACHC, MMAA, MMAB, MMADHC, LMBRD1, PCCA, PCCB and SLC22A5. Candidate variants were verified by Sanger sequencing of the proband, her parents and sister. Results:The proband was found to harbor two pathogenic variants of the MUT gene, namely c. 1560+ 2T>C and c. 729_730insTT (p.Asp244fs), but not in genes associated with propionic acidemia. Her sister and father had carried c. 1560+ 2T>C, and her mother had carried c. 729_730insTT (p.Asp244fs). Conclusion:The proband was diagnosed as methylmalonic acidemia due to compound heterozygous variants of c. 1560+ 2T>C and c. 729_730insTT (p.Asp244fs) of the MUT gene. Her elder sister and parents were all carriers. Genetic testing has facilitated differential diagnosis of methylmalonic acidemia and propionic acidemia in this pedigree.

Objective:To study the collapse of the contralateral femoral head after the total hip arthroplasty (THA) in patients with bilateral steroid-induced femoral head necrosis leg-length discrepancy (LLD) influences.Methods:A total of 108 patients with bilateral steroid-induced femoral head necrosis who were treated in Honghui Hospital Affiliated to Xi′an Jiaotong University from June 2014 to June 2016 underwent THA surgery on the hip joints that had symptoms and developed to Association Research Circulation Osseous (ARCO) Ⅲ. At the same time, the non-surgical hip-preserving treatment of the non-collapsed femoral head developed to the ARCO Ⅱ stage was performed. The follow-up period was 2 years, and 98 cases were finally included. According to the size of the leg-length discrepancy [LLD<3 mm group ( n=50), LLD≥3 mm group ( n=48)] and the type of leg-length discrepancy[non collapse side longer group ( n=58) and shorter group ( n=58)], the collapse of the femoral head and the THA were observed. Results:Finally, a total of 56 cases of femoral head collapse occurred in the non collapse side of the hip, of which 50 cases underwent THA within 24 months. There were significant statistical differences in THA and femoral head collapse between LLD<3 mm group and LLD≥3 mm group, non collapse side longer group and non collapse side shorter group ( P<0.05). The 2-year survival rate without collapse in the LLD<3 mm group and LLD≥3 mm group were 52.1% and 34.0%, respectively, and the 2-year survival rates in the longer and shorter non-collapsed limb groups were 56.9% and 22.5%, respectively. Compared with patients with moderate lesions, the survival rate of femoral heads in patients with larger lesions was lower ( OR: 4.25, 95% CI: 1.55-11.26; P=0.003). LLD<3 mm group ( OR: 0.24, 95% CI: 0.06-0.50; P<0.01) or non collapse side longer group ( OR: 0.13, 95% CI: 0.04-0.29; P<0.01) had lower risk of contralateral femoral head collapse after THA. Conclusions:For patients with bilateral steroid-induced femoral head necrosis who have collapsed lateral THA, postoperative leg-length discrepancy extremities is a potential risk factor for collapse of non-collapsed femoral head. LLD<3 mm and avoiding shortening of the uncollapsed limb may reduce the risk of collapse of the uncollapsed femoral head.

OBJECTIVE: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family. METHODS: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. RESULTS: Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal. CONCLUSION Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.
Albinism ; Albinism, Oculocutaneous/genetics* ; Amniocentesis ; Cell-Free Nucleic Acids ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis