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 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 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.

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

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