Objective To evaluate the clinical application of Nutritional Risk Screening 2002 (NRS 2002) in inpatients.Methods Totally 400 inpatients who were admitted to Tianjin Tianhe Hospital from Novem- ber 2008 to March 2009 were enrolled in this study.Physical examinations,including body height and body meas-urement,were performed the next morning after admission.The nutritional status was evaluated with NRS 2002.Results In all 400 inpatients.NRS 2002 was strongly practicable in 306 patients (76.5%) and weakly practica-ble in 94 patients (23.5%);Ninety-six patients (24.0%) had nutritional risks,which were most common in the department of internal medicine and the Department of neurology.The average age of patients with nutritional risks was (79.0±11.4) years,which was significantly higher than that of patients without nutritional risks [(58.1±15.8) years] (P<0.01).Conclusion NRS 2002 is effective and practicable in evaluating the nutritional status of inpatient.

Objective To explore the feasibility of fishing net repairing transverse fascia method for inguinal hernia (type Ⅰ , Ⅱ ) using laparoscopic surgical procedure. Methods A retrospective analysis of clinical data between the method of fishing net repairing transverse fascia surgery for 145 cases of inguinal hernia (typeⅠ,Ⅱ ) using laparoscopic surgical procedure from May 2004 to May 2008 (laparoscopic group) and the method of open repairing surgery 143 cases (open group) at the same period were conducted. The differences in the operative time, rehabilitation activities time, length of stay, cost of hospitalization and 0comphcations, recurrence rate were compared. Results The laparoscopic group was significantly better in the operative time [ ( 14.8 ± 11.5) min ], found hiding oblique hernia ( 15 cases), rehabilitation activities time[ ( 16.5 ± 14.3) h], use of analgesics(5 cases), scrotal edema(1 case), length of stay[ (4.2 ± 1.5) d], than those of the open group [ ( 37.6 ± 25.4) min, 0, (52.7 ± 12.6) h, 13, 14, ( 8.4 ± 2.6 ) d respectively ] ; but the recurrence rate was no significantly different. Conclusion Method of fishing net repairing transverse fascia for inguinal hernia (type Ⅰ , Ⅱ ) using laparoscopie surgical procedure is feasible.

Objective:To construct the evaluation index system of peritoneal dialysis nursing quality, so as to provide a basis for management and evaluation of peritoneal dialysis nursing quality.Methods:Through literature review and expert interviews, the peritoneal dialysis nursing quality evaluation index system (draft) was initially determined on the evidence-based basis. The expert letter questionnaire was designed, and indexes of nursing quality evaluation were screened and revised by Delphi expert letter questionnaire and boundary value method. The analytic hierarchy process was used to determine the weight of evaluation indexes, and the evaluation system of the peritoneal dialysis nursing quality index was established.Results:The expert response rates of 2 rounds of questionnaires were 91.43% and 85.71%, and the expert authority coefficients of the 2 rounds were respectively 0.838 0 and 0.862 2, and the coordination coefficients of the first, second and third levels of indexes of the second round were respectively 0.643, 0.431 and 0.283 ( P<0.01) . The final evaluation index system included 3 first-level indicators, 18 second-level indicators and 84 third-level indicators. Conclusions:The evaluation index system of peritoneal dialysis nursing quality has good reliability and applicability. After further verification, it can be used as an evaluation tool of peritoneal dialysis nursing quality management.

Objective To establish a set of operational status assessment indicators to meet the needs of informationized hospital management.Methods Assessment indicators were selected and weights were set respectively through literature review,field interview,and questionnaire survey.Six target dimensions were key performance indicators medical business,operational performance,cost control,medical insurance,balance and risk management,and development capability.Thus a set of operational status evaluation indicators was established in IT means,and based on the informationization level of a tertiary A general hospital in Zhejiang province.Results In the principle of public welfare,objectivity,effectiveness and prospectiveness,we analyzed and sorted out relevant data in the current hospital informationization,identifying six quantitative indicators,15 level-1 indicators,and 86 level-2 indicators.Conclusions It is feasible to build a set of assessment indicators for hospital operation and management in view of both technology and methodology.

OBJECTIVE: To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M). METHODS: A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus. RESULTS: Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion. CONCLUSION By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.
Humans ; Pregnancy ; Female ; Child ; Male ; Preimplantation Diagnosis ; East Asian People ; Semen ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Aneuploidy ; Blastocyst/pathology* ; High-Throughput Nucleotide Sequencing ; Spermatozoa

Objective:To construct a set of weighted trigger index system for dynamic adjustment of medical service price,so as to provide references and basis for price adjustment of complex medical service projects in Tangshan.Methods:The Delphi expert consultation method was used to demonstrate and determine the index system,and the difference comparison method and product method were used to determine the weight coefficient for each index.Results:The trigger index system of dynamic adjustment of medical service price including 4 first-level indicators,10 second-level indicators and 29 third-level indicators,and the weight coefficient of each indicator was given.Conclusion:The trigger index system of dynamic adjustment of medical service price in Tangshan has high scientificity and reliability,which is helpful for Tangshan to establish a sensitive and moderate price dynamic adjustment mechanism.Considering the affordability of all parties in the price adjustment of medical services in Tangshan,it is conducive to strengthening the total price control and structural adjustment of medical services in Tangshan.

OBJECTIVETo identify the pathogenic mutation in a Chinese family with Alport syndrome.

METHODSBlood samples were collected from the members of the family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of the COL4A5 gene was performed, and restriction fragment length polymorphism (RFLP) analysis was used to confirm the sequencing results and to test the mutation in all the family members and 200 controls.

RESULTSA novel splicing mutation of c.1517-1G to T in the COL4A5 gene was identified in all patients in the family. RFLP analysis did not detect this mutation in all the unaffected family members and the 200 controls.

CONCLUSIONThis data revealed a novel splicing mutation of c.1517-1G to T in the COL4A5 gene causing Alport syndrome in a Chinese family. Author's study enriched the spectrum of COL4A5 mutation associated with Alport syndrome.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Chromosomes, Human, X ; genetics ; Collagen Type IV ; genetics ; DNA Mutational Analysis ; Female ; Genetic Linkage ; Humans ; Male ; Mutation ; Nephritis, Hereditary ; genetics ; Pedigree ; Polymorphism, Restriction Fragment Length ; RNA Splicing ; genetics

Lipophosphatidic acid(LTA)was used to stimulate Mac-T cells,and the expression lev-els and phosphorylation levels of key proteins of nuclear factor-κB(NF-κB)and mitogen-activated protein kinase(MAPK)signaling pathway and the expression levels of upstream key action factors TLR4 and MyD88 proteins were detected by Western blot,and EDU assay was used to detect cell proliferation levels and flow cytometry was used to detect apoptosis.The results showed that acti-vation of GPR120 significantly decreased the phosphorylation levels of LTA-induced NF-κB(P65 and IκBα)(P＜0.01)and MAPK(JNK,ERK,p38)(P＜0.01)in Mac-T cells;inhibition of GPR120 was able to upregulate LTA-induced NF-κB(p65 and IκBα)in Mac-T cells(P＜0.01)and MAPK(JNK,ERK,p38)phosphorylation levels(P＜0.01);and activation of GPR120 significantly allevia-ted LTA-induced upregulation of TLR4 and MyD88(P＜0.01);inhibition of GPR120 significantly exacerbated LTA-induced upregulation of TLR4 and MyD88(P＜0.05);LTA stimulation led to a trend of diminished Mac-T cell proliferation and significantly increased apoptosis,whereas activa-tion of the GPR120 gene significantly increased cell activity(P＜0.01),promoted cell proliferation and significantly reduced apoptosis(P＜0.05)thereby alleviating the damage to Mac-T cells by LTA;LTA stimulation led to a highly significant increase in apoptosis(P＜0.01).In contrast,acti-vation of the GPR120 gene significantly reversed the increase in the apoptosis rate of Mac-T cells induced by LTA(P＜0.01),while inhibition of the GPR120 gene enhanced the apoptosis-promo-ting effect of LTA(P＜0.05),indicating that activation of the GPR120 gene attenuated the in-crease of apoptosis rate caused by LTA-induced inflammatory Mac-T cells.The results suggest that GPR120 can regulate inflammation by mediating TLR4 and MyD88 expression to inhibit NF-κB/MAPK inflammatory pathway activation and can promote cell proliferation.

Objective To explore whether hepatocyte Perilipin-2(Plin2)is involved in the development of fatty liver related to comparative gene identification-58(CGI-58)deficiency mice and compare the effects of Plin2 and Plin3 on lipid droplet formation and lipid accumulation.Methods Based on CGI-58Flox/Flox mice as animal model,the adeno-associated viruses targeting mouse liver,CGI-58 knockout and Plini2 knockdown were achieved by co-expression Cre protein and micro-RNA targeting Plin2(Mi-KD).Then CGI-58 deficiency mice were used as control(NC)to detect the differences in metabolic phenotype and liver pathology.AML-12 mouse hepatocytes were used as cellular model and interfered with siRNA to achieve Plin2/Plin3 knockdown in AML-12 cells.Lipid droplet formation and lipid accumulation were compared with Bodipy staining and enzyme colorimetry in basal condition or lipid-overloaded condition(OA inducement)after Plin2/Plin3 knockdown.Results Plin2 knockdown(Mi-KD)reduced PLIN2 protein level by＞99％in mouse livers.Mi-KD decreased hepatomegaly(P=0.019 5)and liver injury(P=0.000 4),while reduced the histological NAS score(P=0.000 2)and hepatic triglyceride content(P=0.016 6)in the CGI-58 deficiency female mice.Mi-KD prevented microvesicular hepatic steatosis in the CGI-58 deficient female mice.Plin3 knockdown significantly reduced the triglyceride content in basal condition of hepatocytes(P=0.001 4),and Plin2 knockdown just showed a decreased trend.Plin2 or Plin3 knockdown significantly reduced the triglyceride content separately in lipid-overloaded hepatocytes(P＜0.05).Conclusion Hepatocyte Plin2 is essential in the development of microvesicular hepatic steatosis caused by CGI-58 deficiency.Both Plin2 and Plin3 are involved in lipid droplet formation and lipid accumulation in hepatocytes,and Plin3 shows a stronger effect.