OBJECTIVE: To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation. METHODS: A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241). RESULTS: MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c.1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c.2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+PM2_Supporting+PM3+PP1) and likely pathogenic (PM2_Supporting+PM3+PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.
Humans ; Male ; Pedigree ; Cholestasis, Intrahepatic/diagnostic imaging* ; Adenosine Triphosphatases/genetics* ; Female ; Adult ; Exome Sequencing ; Mutation ; East Asian People

Objective: To investigate the relationship between the ubiquitin ligase E3 cirRNA(circHERC4/hsa＿circ＿0007113) and the senescence in Human embryonic lung fibroblasts(IMR-90)cells. Methods: The whole gene sequence of circHERC4 was obtained from circBase database and cloned into cirRNA expression vector pLC5-ciR. The recombinant pLC5-ciR(+) hsa＿circ＿0007113 was constructed in vitro. The recombinant plasmid was identified by PCR, enzyme digestion and sequencing. The recombinant plasmid was transfected into HEK293 T and IMR90 cells with liposome 2000 transfection reagent. The expression of circHERC4 in normal cells, empty vector group and recombinant vector group was detected by RT-PCR, and the senescence of cells was detected by SA-β-Gal staining. Cell proliferation was detected by CCK-8 method. Results: The overexpression vector of circHERC4 was successfully constructed by correct sequencing, and circHERC4 could be efficiently transfected in HEK293 T cells. Compared with the control group, the positive rate of SA-β-Gal staining in the recombinant vector group decreased(P<0.05), and the proliferation rate of cells increased(P<0.05). Overexpression of circHERC4 could improve the proliferation and inhibit the senescence in IMR90 cells. Conclusion It suggests that circHERC4 has potential function of anti-senescence, which lays a foundation for further study on the function of circHERC4.

Objective To provide referential information for intelligent construction in hospital pharmacy. Methods Combined with the practical application, this paper introduces the practice and experience of the intelligent construction of pharmacy in our hospital. Results The construction of intelligent hospital pharmacy improves the drug management level, improves work efficiency and increases the accuracy of the drug dispensing, increases medication guide time, improves patient compliance and satisfaction and reduces the work intensity of pharmacists. Conclusion The intelligent construction of hospital pharmacy has promoted the development of pharmacy and laid a good foundation for the comprehensive and in-depth development of pharmaceutical care.

Aliquat 336 functionalized chelating adsorbent derived from chitosan for enrichment and separation of Y(Ⅲ) were investigated by static adsorption method. The adsorption of Y(Ⅲ) was greatly influenced by the pH of solution, and reached maximum at 20 ℃ using 90 mg/L Y(Ⅲ) at pH 4. 9, and the adsorption of Y(Ⅲ) followed a pseudo-second-order kinetics model and the Langmuir isotherm model. The reduction of Y(Ⅲ) adsorption with the increasing of temperature meant that the adsorption process was exothermic. XPS analysis demonstrated that both cations and anions of the adsorbent were involved in adsorption process, thereby resulting in an improved adsorption of Y(Ⅲ). The adsorbent was thus efficient for enrichment and separation of rare earths from waste rare earth phosphor.

Objective:To investigate the relationship between antimicrobial consumption and resistance of Escherichia coli. Meth-ods:The total antibiotics use density( AUD) and the synchronous resistance rate of Escherichia coli were studied and the correlation between them was analyzed retrospectively using multiple linear regression analysis in our hospital from 2010 to 2012. Results:The re-sistance rate of Escherichia coil to ceftazidime,cefotaxime and aztreonam were negatively correlated with the consumption of piperacillin/tazobactam (r= -0. 700,-0. 717, -0. 647,P<0. 05). A significant positive correlation was found between the resistance rate to ceftazidime and cefotaxime and the consumption of ceftazidime(r=0. 662,0. 601,P<0. 05). The resistance rate to imipenem had a significant positive correlation with the consumption of imipenem(r=0. 685,P<0. 05) as well. Conclusion:A relationship exists be-tween antimicrobial consumption and resistance rate of Escherichia coil. It is necessary to strengthen the management of microbacterial rational use to control and reduce the increase of bacterial resistance.

OBJECTIVE:To determinate the dissolution of Compound Flavone capsules by HPLC.METHODS:Nova-Pak C18(250mm? 4.0mm,5? m) column was used with column at room temperature.The mobile phase consisted of methanol-0.4% H3PO4(50:50) at a flow rate of 1.0mL? min-1.The detective wavelength was 360nm.The dissolution of the Compound Flavone capsules was determined by basket stirring technique with 0.1mol? L-1 hydrochloric acid as dissolvent at a speed of 100r? min-1.RESULTS:The cumulative dissolution rate of Compound Flavone capsules was above 80% at 30 minutes.The linear range of Quercetin was 0.065 84～ 0.658 4?g(r=0.999 9).The average recovery was 99.35%,RSD=0.92%(n=6).CONCLUSION:The method is simple,accurate and reproducible,and suitable for the guality control of Compound Flavone capsules.

OBJECTIVE: To discuss therapy regimes and pharmaceutical care for the inpatient with intracranial infection after craniotomy. METHODS: Clinical cases were taken as example and therapy regimes was analyzed in order to put out full range and individualized pharmaceutical care for patients with intracranial infection after craniotomy. RESULTS: Reasonable medication was provided by implementing pharmaceutical care. CONCLUSION: It is necessary to deliver pharmacetical care to the inpatient with intracranial infection after craniotomy.

OBJECTIVE:To determine the content of Puerarin in Compound Ginkgo biloba tablets by RP-HPLC. METHODS:The determination was performed on Kromasil C18 column. The mobile phase consisted of methanol-water (20∶80) with a flow rate of 1mL?min-1. The detection wavelength was 250 nm and the temperature of the column was 35℃. RESULTS:The linear range of Puerarin was 0.8～2.4?g (r=0.999 3, n=5),with the average recovery at 99.98%,RSD=1.31%(n=5).CONCLUSION:The method is simple,sensitive and reproducible,and it can be used for the quality control of Compound Ginkgo biloba tablets.

OBJECTIVE:To optimize the formula of the compound ginkgo leaves tablets.METHODS:The formula(dosage of low-substituted hydroxypropyl cellulose;the ratio between crude drug and loading agent and the dosage of micro-crystalline cellulose)was optimized using orthogonal design and multi-index(tablet weight variation and disintegration de-gree)comprehensive score method.RESULTS:The optimized formula was the following:the dosage of low-substituted hy-droxypropyl cellulose was5%;the ratio between crude drug and loading agent was1∶1and the dosage of microcrystalline cellulose was10%.CONCLUSION:The tablets are reasonable in formula and the forming quality of which is also good.

AIM: To determine the thermo-stability of quercetin in Compound Flavone Capsules in order to predicate the capsules's shelf life. METHODS: The quercetin content in Compound Flavone Capsules was determined by HPLC and its stability was determined by the accelerate test with constant temperature method. RESULTS: The shelf-life of Compound Flavone Capsules was 2.5 years. CONCLUSION: The methods adopted in the study are simple and convenient and Compound Flavone Capsules have good stability.