To investigate the effect of pancreatic elastase on diabetic nephropathy,104 cases of type Ⅱ diabetic patients were selected as control group and group treated with elastase separately for a course of 6 months.The results showed that pancreatic elastase reduced microproteinuria significantly,especially mi- croalbuminuria and microtransfer rrinuria which reflect the glomerular filtration rate.It was concluded that elastase could improve early diabetic nephropathy and might have some protective effect as well.At the same time,elastase had some good effect on lipid and lipoprotein metabolism.

Objective To investigate the relationship between serum nitric oxide (NO) and bone metabolism in streptozotocin induced early diabetic (STZ DM) rats. Methods Twenty SD rats were divided into 2 groups, 12 STZ DM rats and 8 controls. Fasting blood glucose, HbA 1c , serum insulin, bone mineral density (BMD) (whole body, lumbar and femoral bone), bone metabolic parameters 〔such as serum calcium, vitamin D 3, parathyroid hormone (PTH), calcitonin, osteocalcin, and urinary pyridinoline/creatinine〕, as well as serum NO were measured. Results Compared with the controls, serum NO in STZ DM group significantly elevated 〔(51.3?11.9 vs 38.1?12.0)?mol/L, P

Objective To explore new treatment methods for old acromioclavicular dislocation. Methods Twenty-nine cases of old acromioclavicular dislocation were treated with augmenting reconstruction of acromioclavicular ligament by coracoacromial ligament and augmenting reconstruction of coracoclavicular ligament by conjoining tendon with biceps brachii muscle and coracobrachialis muscle in coracoid. Twenty-five cases were followed up with follow-up period of 3-36 months. There were 10 cases in grade Ⅱ and 15 in grade Ⅲ according to classification of Allman. Results Of 25 cases with follow-up, 16 were excellent and 9 satisfactory according to the Lazzcano standard. There were no other complications or dislocations. Conclusions Reconstruction of acromioclavicular and coracoclavicular ligaments for treatment of old acromioclavicular dislocation is an efficient method with advantage of rigid fixation and accords with micro-motion physiological function of acromioclavicular joint.

Objective To analyze the clinical characteristics and risk factors for post-traumatic seizures (PTS) in children,so as to provide a theoretical evidence for clinicians to prevent PTS.Methods From January 2010 to November 2016,the clinical data and auxiliary examination of 388 post-traumatic patients hospitalized at the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively.According to the presence of epileptic seizure,these patients were divided into PTS group and non post-traumatic seizures (nPTS)group.The risk factors associated PTS were investigated by univariate analysis.Results Among the 388 post-traumatic children,72 cases had seizures,which occurred almost predominantly less than 1 year.Fifty-six point nine percent (41/72 cases) were immediately PTS,and 31.9％ (23/72 cases) were early PTS,and 11.1％ (8/72 cases) were late PTS.Among the seizures types,generalized seizures accounted for 51.4％ (37/72 cases),and tonic-clonic seizures were in common;focal seizures accounted for 36.1％ (26/72 cases);focal combined generalized seizures accounted for 2.8％ (2/72 cases),and the remaining 9.7％ (7/72 cases) were ominous.Electroencephalogram showed the slow wave and spike wave most common.There were significant differences in factors statistically,included age,Glasgow Coma Scale (GCS) score,the severity of traumatic brain injury,cerebral contusion,subdural hematoma,therapy method between the patients with seizures group and the patients without seizures group (Z =4.717,x2 =13.079,17.852,5.664,17.457,5.496,all P ＜ 0.05).In single factor analysis and multi-factor regression analysis,age,GCS score,the severity of traumatic brain injury,subdural hematoma,therapy method were associated with the incidence of PTS (all P ＜ 0.05).Conclusions PTS is a severe complication of brain trauma in children.Small age,GCS ≤8 scores,severe brain injury,subdural hematoma,surgery are the risk factors of PTS.

Objective:To explore the influence of patient-controlled intravenous analgesia(PCIA)with morphine on early post-operative cognitive function in the elderly patients undergoing abdominal surgery with target control infusion(TCI)/total intra-venous anesthesia(TIVA).Methods:A total of 120 patients matched with the inclusion criteria were randomly divided into PCIA group with morphine(n=60)and control group(n=60).All the patients underwent abdominal operation with TCI/TI-VA.Pain intensity at 24 h and 48 h after the operation were evaluated by visual analogue scale(VAS).Mini-mental state examination(MMSE)scores were recorded at 24 h before the operation and 24 h,48 h,72 h after the operation,in order to as-sess cognitive function and incidence of POCD.Results:Scores of VAS in PCIA group were significantly lower than those in control group at 24 h and 48 h after the operation(P <0.01).The incidence of postoperative cognitive dysfunction(POCD)at 72 h after the operation in PCIA group was lower than that in the control group (P <0.05),and recovery of postoperative cog-nitive function in PCIA group was better than that in the control group(P <0.05).Conclusions:PCIA with morphine could re-duce the incidence of POCD in the elderly patients undergoing abdominal surgery and improve postoperative cognitive function.

Objective:To analyze the sequence of a novel HLA- DPB1 allele in an individual. Methods:A individual identified from the database of blood donors for matched platelet transfusion at the Blood Center of Zhejiang Province in May 2022 was selected as the study subject. HLA genotype of the individual was determined by next-generation sequencing (NGS) on an Ion Torrent S5 platform. The sequence of the HLA- DPB1 locus was also determined by NGS on an Illumina Miseq platform and third generation sequencing using Oxford Nanopore MinION. This study was approved by Medical Ethics Committee of the Blood Center of Zhejiang Province (Ethics No. 2021-001). Results:A novel HLA- DPB1*02 allele was identified in the specimen, for which the closest genotype was HLA- DPB1*02: new, 17: 01: 01G, with the variant located in exon 3. Meanwhile, the NGS also revealed a novel HLA- DPB1*17 allele, with the closest genotype being HLA- DPB1*02: 01: 02G, 17: new. Both the HLA- DPB1*17: 01: 01: 01 and novel HLA- DPB1*02 alleles were identified by third-generation sequencing. Compared with the HLA- DPB1*02: 01: 02: 01 allele, the novel allele had a G>A variation at position 369 in the exon 3, which did not result in amino acid change. Conclusion:A novel HLA- DPB1 allele has been identified and validated by both NGS and TGS, which has been named as HLA- DPB1*02: 01: 69 by the World Health Organization Committee on Nomenclature of Factors of the HLA System.

OBJECTIVE: To detect loss of heterozygosity (LOH) at human leukocyte antigen (HLA) loci in a Chinese patient with leukemia after haploidentical hematopoietic stem cell transplantation. METHODS: HLA genotyping was carried out on peripheral blood, hair follicle and buccal swab samples derived from the patient after the transplantation as well as peripheral blood samples from his parents by using PCR-sequence specific oligonucleotide probe method and PCR-sequence based typing method. Short tandem repeat (STR) loci were detected by using a 23 site STR assay kit and a self-developed 6 STR loci assay for the HLA regions. RESULTS: After the transplantation, the HLA genotype of the peripheral blood sample of the patient was identical to his father. The patient was HLA-A*02:01,24:02, C*03:03,03:04, B*13:01,15:01, DRB1*08:03,12:02, DQB1*03:01,06:01 for his hair follicle specimen. However, homozygosity of the HLA loci was found in his buccal swab sample. Only the HLA-A*24:02-C*03:03-B*15:01-DRB1*08:03-DQB1*06:01 haplotype from his father's was present, while the HLA-A*02:01-C*03:04-B*13:01-DRB1*12:02-DQB1*03:01 haplotype from his mother was lost. After the transplantation, the alleles of the 23 STR sites in the patient's peripheral blood sample were consistent to his father, with no allelic loss detected in his buccal swab sample. However, at least 4 STR loci in the HLA region were lost in his buccal swab sample. CONCLUSION LOH at the HLA loci has been detected in the buccal swab sample of a patient with leukemia who received haploidentical hematopoietic stem cell transplantation.
HLA Antigens/genetics* ; HLA-A Antigens/genetics* ; Histocompatibility Antigens Class I/genetics* ; Humans ; Leukemia/genetics* ; Loss of Heterozygosity

Objective:To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) and/or copy number variation sequencing (CNV-seq) for the prenatal diagnosis for women with advanced maternal ages, and to explore the challenges of prenatal genetic counseling brought by the types of fetal CNVs and uncertainty of related phenotypes.Methods:A retrospective analysis was carried out on 1 841 women with advanced maternal age who underwent interventional prenatal diagnosis at the Prenatal Diagnosis Center of Xiamen University Affiliated Women and Children′s Hospital from January 2017 to December 2020. Routine chromosomal karyotyping analysis and CMA/CNV-seq detection were carried out.Results:CMA/CNV-seq had detected pathogenic variants in 2 cases which had failed karyotyping analysis. Two hundred and twenty one fetal chromosomal abnormalities were detected by karyotyping analysis, among which 187 were detected by CMA/CNV-seq. CMA/CNV-seq analysis of 23 cases with balanced chromosome structural aberrations and 10 cases with low proportion mosaicisms (including a marker chromosome) had yielded a negative result. In addition, 26 cases (26/1 841, 1.4%) with pathogenic CNVs were discovered among those with a normal karyotype, of which 13 (50.0%) were recurrent CNVs associated with neurocognitive impairment, with 22q11.21 microdeletions and microduplications being the most common types (26.92%).Conclusion:The combination of karyotyping analysis and CMA/CNV-seq not only increased the rate of prenatal diagnosis, but also complemented with each other, which has facilitated genetic counseling and formulation of prenatal diagnosis strategy for the affected families.

Neurofibromatosis type 1（NF1）is one of the most common autosomal dominant disorders. The disease is caused by mutations in the NF1 gene，which can involve multiple systems and have a variety of clinical manifestations，including café au lait macules，lisch nodules，neuroglioma，autism spectrum disorder，learning difficulties，neurofibromas，and skeletal dysplasia，et al.In previous studies on the pathogenesis of NF1，most of them have focused on the regulation of the RAS signaling pathway by neurofibromin. In recent years，researchers start exploring pathways other than RAS signaling to explore the potential functions of neurofibromin. This article reviews the research progress on the pathogenesis of NF1 in recent years，aiming to provide new ideas for treatment.