1.Analysis on related factors of pleural effusion caused by severe congestive heart failure
Shijing TIAN ; Xiyu WANG ; Fachun ZHOU
Chongqing Medicine 2018;47(1):52-53,56
Objective To understand the related influencing factors of pleural effusion caused by severe congestive heart failure to provide an idea for clinical diagnosis and treatment.Methods Three hundreds patients with severe congestive heart failure admitted to the cardiology department of this hospital from January to June 2015 were selected.The sex,age,heart failure degree,pleural effusion,type of heart disease,diabetes mellitus,atrial fibrillation,B-type pro-brain natriuretic peptide,white blood cell,neutrophil percentage,hemoglobin,blood urea nitrogen,serum albumin and hospital stay were recorded and performed the statistical analysis.Results The sex,heart failure degree,ejection fraction,B-type pro-brain natriuretic peptide,neutrophil percentage and serum albumin had statistical differences between the patients with pleural effusion caused by severe congestive heart failure and patients without pleural effusion(P<0.05).The left atrial diastolic diameter/left ventricular end-diastolic diameter,white blood cell,hemoglobin,blood urea nitrogen,type of heart disease,diabetes,atrial fibrillation and hospitalization stay had no statistically significant differences(P>0.05).Conclusion Pleural effusion caused by severe congestive heart failure has the correlation with the sex,heart failure degree,hypoproteinemia and neutrophil percentage.
2.Clinical and genetic characteristics of patients with KCNV2-associated cone dystrophy
Tian ZHU ; Hui LI ; Lei WANG ; Xing WEI ; Shijing WU ; Zixi SUN ; Ruifang SUI
Chinese Journal of Experimental Ophthalmology 2020;38(4):312-318
Objective:To access the genetic defects and clinical characteristics of patients with KCNV2-associated cone dystrophy. Methods:Three pedigrees with KCNV2-associated cone dystrophy were recruited in Peking Union Medical College Hospital from August 2017 to December 2019.Peripheral blood from each patient and their parents was collected, and genomic DNA was extracted.Targeted exome capture plus next-generation sequencing (NGS) was used to detect the candidate variants.Suspected causative variants were validated by Sanger sequencing and segregation analysis.Comprehensive ocular examinations were performed, including vision acuity, colour vision, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), visual field and electroretinogram (ERG). This study was approved by the Institutional Review Board of Peking Union Medical College Hospital and adhered to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each patient prior to any medical examination. Results:Three probands from three unrelated Chinese families were confirmed carrying biallelic KCNV2 disease-causing variants.Two patients harbored compound heterozygous variants and one patient with history of consanguinity was identified carrying homozygous variant.Five novel variants in the KCNV2 gene were identified, including p. T121M, p.R244C, p.C199Y, p.M250R and p. L171Pfs*201.All patients enrolled in this study were male with age of 25, 16 and 2 years old, respectively.Three affected individuals complained of vision loss and photophobia and two patients demonstrated reduced color perception and nystagmus.Macular discoloration (bull's eye maculopathy or gold foil macular reflex) was observed in fundus photographs.Macular hypofluorescence was illustrated in FAF imaging, which accompanying a broad hyperfluorescent ring surrounding the central atrophy or not.Macular thinning with loss of the inner segment ellipsoid zone was noted in OCT images, and the disruption was more profound in older patients.Central scotoma with or without peripheral visual field defects was observed in perimetry.Severe cone function loss and variable scotopic rod impairment were demonstrated in ERG, whereas a broad a-wave trough response to scotopic bright flash stimulation was noted. Conclusions:Patients with KCNV2-associated cone dystrophy show a characteristic ERG manifestation.ERG results and KCNV2 variants in Chinese patients differ from those in foreigners.
3.Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia
Tian ZHU ; Hui LI ; Xing WEI ; Shijing WU ; Zixi SUN ; Ruifang SUI
Chinese Journal of Experimental Ophthalmology 2022;40(10):948-954
Objective:To identify the clinical characteristics and pathogenic gene of a Chinese Han family with achromatopsia (ACHM).Methods:The method of pedigree investigation was adopted.A Chinese Han ACHM family was recruited in Peking Union Medical College Hospital form July 2010 to July 2019, including 5 members of 2 generations.There were 2 patients and 3 phenotypically normal individuals.The medical history was collected and comprehensive ophthalmic examinations were performed, including visual acuity, colour vision, color fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), visual field and electroretinogram (ERG).Genomic DNA was extracted from peripheral blood sample from the patients and family members.Pathogenic variant was screened by whole exome sequencing (WES) and verified by Sanger sequencing and co-segregation analysis.The variant was annotated with the 1000 Genomes, Human Gene Mutation Database (HGMD), ExAC, ClinVar and OMIM databases to detect the single nucleotide polymorphism and whether it had been reported previously.The pathogenicity of the variant was evaluated according to the standards and guidelines of the American College of Medical Genetics and Genomics (ACMG).This study adhered to the Declaration of Helsinki.The study protocol was approved by the Institutional Review Board of Peking Union Medical College Hospital (No.JS-2059).Written informed consent was obtained from the guardians of juvenile patients.Results:There was consanguinity between the proband's parents and this family was consistent with autosomal recessive inheritance.Both male patients presented the reduction of visual acuity accompanied with photophobia and color blindness since childhood.Barely visible foveal light reflex in fundus images, hypofluorescence of foveal areas in FAF images, foveal defect with disruption of ellipsoid zone and interdigitation zone in OCT images were found in both patients.Central scotoma with or without peripheral visual field defects was detected.Generally normal scotopic 0.01, 3.0 and 10.0 responses, decreased oscillatory potentials amplitudes, no photopic 3.0 and 30 Hz flicker responses were observed.No sign of progression was found during the 9-year follow-up.It was confirmed that both patients carried a novel homozygous disease-causing variant c. 947insA (p.Asn316Lysfs*46) in ATF6 gene.Their mother had the heterozygous variant.The unaffected brother did not carry the variant.This family was consistent with co-segregation.This variant was labeled as pathogenic according to the ACMG standards and guidelines. Conclusions:A novel variant c.947insA (p.Asn316Lysfs*46) in ATF6 gene is the pathogenic variant of this achromatopsia family.This is the first time that this variant has been reported.
4.Huangjing Jiannao Granules Improve Learning and Memory Abilities and Cerebral Blood Flow in Rat Model of Vascular Cognitive Impairment via PI3K/Akt Signaling Pathway
Rui YANG ; Yumu TIAN ; Yujing JIN ; Jianwen ZHAIWU ; Tong ZHANG ; Zehua ZHAO ; Shijing HUANG ; Juhua PAN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(22):52-60
ObjectiveTo study the effects of Huangjing Jiannao granules on learning and memory abilities and cerebral blood flow in the rat model of vascular cognitive impairment (VCI) and to explore the mechanism of Huangjing Jiannao granules in the treatment of VCI. MethodSeventy-two SPF-grade male SD rats were randomly selected, with 12 rats as the sham operation group. The remaining rats were subjected to bilateral carotid artery ligation (2-VO) for the modeling of VCI. According to the randomized block design, the successfully modeled rats were grouped as follows: model, donepezil hydrochloride (0.50 mg·kg-1), and low-, medium-, and high-dose (2.36, 4.72, 9.44 g·kg-1, respectively) Huangjing Jiannao granules. After 6 weeks of treatment, Morris water maze test and new object recognition test were conducted to evaluate the learning and memory abilities of the rats. After continuous gavage for 8 weeks, the cerebral blood flow was recorded by a laser microcirculation blood flow imager, and the survival and injury of hippocampal neurons were observed by Nissl staining. The expression of neuronal nuclear antigen (NeuN) in the hippocampus was detected by immunohistochemistry (IHC). The levels of interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) in the serum were determined by enzyme-linked immunosorbent assay. The protein levels of phosphatidylinositol 3-kinase (PI3K), phosphorylated protein kinase B (p-Akt), nuclear factor-κB p65 (NF-κB p65), and nuclear factor-κB inhibitor α (IκBα) in the hippocampus were determined by Western blot. ResultCompared with the sham operation group, the model group showed weakened learning and memory abilities (P<0.01), reduced blood flow in the whole brain, forebrain, and hindbrain (P<0.01), damaged neurons and reduced survived neurons in the hippocampal CA1 region (P<0.01), down-regulated expression of NeuN (P<0.01), elevated levels of IL-1β and TNF-α in the serum (P<0.01), up-regulated protein levels of PI3K, p-Akt, and NF-κB p65 in the hippocampal tissue, and down-regulated protein level of IκBα (P<0.01). Compared with the model group, medium- and high-dose Huangjing Jiannao granules improved the learning and memory abilities (P<0.05,P<0.01). High-dose Huangjing Jiannao granules increased the blood flow in the whole brain, forebrain, and hindbrain (P<0.05,P<0.01), and medium-dose Huangjing Jiannao granules increased the blood flow in the whole brain (P<0.05). All the doses of Huangjing Jiannao granules increased the number of survived neurons (P<0.05,P<0.01) and up-regulated the protein level of NeuN (P<0.05,P<0.01). Medium and high-dose Huangjing Jiannao granules lowered the level of TNF-α (P<0.05,P<0.01), down-regulated the protein levels of PI3K, p-Akt, and NF-κB p65 (P<0.05,P<0.01), and up-regulated the protein level of IκBα (P<0.01). ConclusionHuangjing Jiannao granules can improve the learning and memory abilities and promote the recovery of cerebral blood flow in the rat model of VCI induced by 2-VO by regulating the expression of proteins involved in the PI3K/Akt signaling pathway, inhibiting inflammation, and reducing hippocampal neuron injury.
5.Development and Application of Pharmacy Relevant Popular-science Video Courseware in Our Hospital
Lulu TIAN ; Deqiu ZHU ; Dan WU ; Juan WU ; Shijing QIAN ; Jie LI ; Zhan QI ; Shanshan TONG ; Danfei SONG ; Lizhu CHEN ; Sha ZHANG ; Beilei CHEN
China Pharmacy 2021;32(19):2406-2410
OBJECTIVE:To provide reference for the development and application of pharmacy popular-science video courseware. METHODS :Combined with the problems existing in the medication of patients with chronic diseases at the present stage and the key points of medication management ,the theme ,content and form of this popular-science were determined ;the video shooting and production were completed ,and publicity and promotion were carried out. Questionnaire survey was conducted , and the reception of pharmacy outpatient service in our hospital was counted ;the broadcasting effects of popular-science video were analyzed. RESULTS :The theme of popular-science video courseware was determined to be self-medication management of patients with chronic diseases at home assisted by pharmacists. Combined with the “five moments ”of medication safety proposed by WHO , the content included six units as knowing pharmacists ,understanding drugs ,taking drugs ,adding drugs ,checking drugs ,and discontinuing drugs. PPT video was used to explain the contents of each unit ,with an average duration of about 25 min. After the first unit was launched ,a total of 39 327 hits were received within two months. A total of 100 questionnaires were sent out ,97 questionnaires were collected (recovery rate of 97.0%). Among them ,80(82.5%)thought it helpful to watch the video. Within two months after the broadcast of unit 1 video,the reception volume of pharmacy outpatient department of our hospital (1 160 person times )increased by 104.2% compared with the two months in the same period last year (568 person times ),and increased by 18.7% compared with the two months before the broadcast (977 person times );99 patients came to the pharmacy outpatient department to consult because of watching the video ,and 55.6% of the registered patients consulted the demonstration of video courseware and repeatedly mentioned related problems. CONCLUSIONS :It is a beneficial exploration for pharmacists to develop popular-science video courseware with the theme of safe and rational drug use. It is the direction for future work to increase the scope of disease types ,target different groups of people or focus on different types of drugs and promot them in various forms.