Using healthcare failure mode and effect analysis to reduce the emergency waiting risk / 中国实用护理杂志

Objective:To explore the application of effect of healthcare failure mode and effect analysis (HFMEA) in emergency waiting risk management.Methods:From May 2020 to April 2021, totally 87 902 emergency waiting patients from the First Affiliated Hospital of Anhui Medical University were assigned to control group by cluster sampling method. From May 2021 to April 2022, 80 594 emergency waiting patients were assigned to observed group. The patients in the control group received routine emergency waiting of itinerant management mode. In contrast, the patients in the observed group received emergency waiting risk management mode based on HFMEA. The process risk priority number (RPN) and waiting risk management index between two groups were compared.Results:The mean RPN of the observed group was (98.48 ± 8.27) points, significantly lower than that of the control group (251.27 ± 16.95) points. The nurses′ pre-identification rates of changes in the condition and adverse reaction in the observed group were 10.77%(8680/80 594) and 13.37%(10 775/80 594), which were higher than those in the control group, 5.77%(5072/87 902) and 8.12%(7134/87 902), the differences were statistically significant ( χ2 values were 1402.32 and 1221.66, all P<0.05). Conclusions:The application of HFMEA to optimize the emergency waiting management process can effectively reduce the risk of emergency waiting and improve the quality of emergency waiting management.

Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency / 中华医学遗传学杂志

OBJECTIVE@#To summarize newborn screening for methionine adenosyltransferase I/III (MAT I/III) deficiency in Quanzhou region of Fujian Province.@*METHODS@#A total of 364 545 neonates were screened for inherited metabolic diseases by tandem mass spectrometry. High-throughput next generation sequencing combined with Sanger sequencing was used to detect potential variants in newborns with MAT I/III deficiency. Pathogenicity of suspected variants was predicted by using MutationTaster and HSF software.@*RESULTS@#Three newborns were identified with MAT I/III deficiency by newborn screening, which yielded an incidence rate of 1 in 121 515. Amino acid and acylcarnitine analysis suggested that the serum methionine of the three patients have increased to various extents. All patients showed normal growth and development during follow-up, and were found to carry MAT1A gene variants including two missense variants [c.776C>T (p.Ala259Val) and c.791G>A (p.Arg264His)] and a synonymous variant [c.360C>T (p.Cys120Cys)]. Among these, c.776C>T (p.Ala259Val) and c.791G>A (p.Arg264His) were known to be pathogenic, whereas c.360C>T (p.Cys120Cys) was a novel variant. Bioinformatics analysis suggested that this variant may alter RNA splicing and affect the structure and function of the MAT1A protein.@*CONCLUSION@#A systematic review of newborn screening for MAT I/III deficiency was provided. Discovery of the novel variant has enriched the variant profile of the MAT1A gene and provided a basis for the diagnosis of this disease.

Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province / 中华医学遗传学杂志

Objective@#To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province.@*Methods@#For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes.@*Results@#Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) were identified. Two patients carried variants of both PAH and PTS genes. The most common variants of the PAH gene were R53H (21.69%), R241C (18.07%), R243Q (12.05%) and EX6-96A>G (7.23%), which were mainly located in exons 7 (32.53%), 2 (21.69%), 6 (9.64%) and 12 (9.64%). The L227M variant of the PAH gene was unreported previously. N52S (35.00%), P87S (25.00%), IVS1-291A>G (10.00%) and T67M (10.00%) variants were the most common variants for the PTS gene and were mainly located in exons 2 (35.00%) and 5 (35.00%).@*Conclusion@#The variant spectrum underlying HPA in Quanzhou area showed a geographical specificity. A novel variant of the PAH gene (L227M) has been detected.

Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province / 中华医学遗传学杂志

OBJECTIVE@#To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province.@*METHODS@#For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes.@*RESULTS@#Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) were identified. Two patients carried variants of both PAH and PTS genes. The most common variants of the PAH gene were R53H (21.69%), R241C(18.07%), R243Q(12.05%) and EX6-96A to G (7.23%), which were mainly located in exons 7 (32.53%), 2 (21.69%), 6 (9.64%) and 12 (9.64%). The L227M variant of the PAH gene was unreported previously. N52S (35.00%), P87S (25.00%), IVS1-291A to G (10.00%) and T67M (10.00%) variants were the most common variants for the PTS gene and were mainly located in exons 2 (35.00%) and 5 (35.00%).@*CONCLUSION@#The variant spectrum underlying HPA in Quanzhou area showed a geographical specificity. A novel variant of the PAH gene (L227M) has been detected.

Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I / 中华医学遗传学杂志

OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing. RESULTS Four mutations of the GCDH gene were identified among the patients, which included c.532G>A (p.G178R), c.533G>A (p.G178E), c.106_107delAC (p.Q37fs*5) and c.1244-2A>C. Among these, c.1244-2A>C was the most common, while c.106_107delAC was a novel mutation, which was predicted to be pathogenic by MutationTaster software. CONCLUSION The diagnosis of GA-I has been confirmed in all of the five patients. Identification of the novel GCDH mutations has enriched the mutational spectrum of the GCDH gene.

Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP).</p><p><b>METHODS</b>High liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using SIFT and PolyPhen-2 to predict the function of protein for novel variations.</p><p><b>RESULTS</b>Total detection rate of gene mutation is 100% in the eight patients with CDSP. Seven patients had compound heterozygous mutations and one patient had homozygous mutations. Six different mutations were identified, including one nonsense mutation [c.760C>T(p.R254X)] and five missense mutations[c.51C>G(p.F17L), c.250T>A(p.Y84N), c.1195C>T(p.R399W), c.1196G>A(p.R399Q), c.1400C>G(p.S467C)]. The c.250T>A(p.Y84N) was a novel variation, the novel variation was predicted to have affected protein structure and function. The c.760C>T (p.R254X)was the most frequently seen mutation, which was followed by the c.1400C>G(p.S467C).</p><p><b>CONCLUSION</b>This study confirmed the diagnosis of eight patients with CDSP on the gene level. Six mutations were found in the SLC22A5 gene, including one novel mutation which expanded the mutational spectrum of the SLC22A5 gene.</p>

Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations in six patients with citrullinemia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing.</p><p><b>RESULTS</b>One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]. Among these, the c.1311T>G mutation was first identified in the Chinese population, and the IVS6-11A>G mutation was a novel variation which may affect the splicing, as predicted by Human Splicing Finder software.</p><p><b>CONCLUSION</b>This study has confirmed the molecular diagnosis of citrullinemia in six patients and expanded the mutational spectrum underlying citrullinemia.</p>

Effects of sapogenin from zhimu (ZMS) and its isomer on learning and memory ability and muscarinic subtype M_1 receptor density in aged rats / 中国药理学通报

AIM To observe the effects of ZMS and ZMR(isomer of ZMS),two active components of Zhimu on learning and memory ability and muscarinic subtype M 1 receptor density in aged rats. METHODS 24 month-old SD rats were randomly divided into aged control group, ZMS and ZMR treatment group. Young rats were used as normal control group. The learning and memory ability was detected by Y-maze method. The muscarinic subtype M 1 receptor density in the brain was detected by 3H-QNB binding tests. RESULTS It was found that daily oral administration of ZMS and ZMR for 40 d significantly enhanced the learning and memory ability and the muscarinic subtype M 1 receptor density in the brain of the aged rats. CONCLUSION These results suggested that ZMS and ZMR probably have potential preventive and curative action for the progressive deterioration of the cholinergic system in Alzheimers disease (AD).