Objective:To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws,and explore the effects of a newly discovered rare mutation(HBA2:c.*12G＞A)on clinical phenotypes.Methods:Blood samples of the proband and her family members were collected for blood routine analysis,and the hemoglobin components were analyzed by capillary electrophoresis.The common α-and β-globin gene loci in Chinese population were detected by conventional techniques(Gap-PCR,RDB-PCR).The α-globin gene sequences(HBA1,HBA2)were analyzed by Sanger sequencing.Results:By analyzing the test results of proband and her family members,the genotype of the proband was-α3,7/HBA2:c.*12G＞A,her father was HBA2:c.*12G＞A heterozygous mutation carrier.Conclusion:This study identifies a rare α-globin gene mutation(HBA2:c.*12G＞A)that has not been reported before.It is found that heterozygous mutation carriers present with static α-thalassemia.

Objective To predict and verify the mechanism of Naoan capsules(NAC)in treatment of ischemic stroke(IS)by network pharmacology,Gene Expression Omnibus(GEO)database,and molecular docking technology.Methods The active components in NAC were collected using the Traditional Chinese Medicine System Pharmacological Analysis Platform,and the disease-related differential genes were screened using GEO database.After screening and obtaining the common targets of the two,the compound disease network was constructed by Cytoscape 3.8.2 software.At the same time,protein-protein interaction networks were created to identify candidate targets for NAC treatment of IS,and gene ontology and Kyoto encyclopedia of genes and genomes enrichment analyses were performed.Finally,core targets were verified by molecular docking technology.Results A total of 56 candidate compounds and 18 544 disease-related differential genes were screened.Further,quercetin,kaempferol,luteolin and baicalein were found to be the key active compounds of NAC in the treatment of IS through the compound disease network.In the search of PPI network core,eight key targets for NAC treatment of IS were screened,including mitogen-activated protein kinase 1(MAPK1),B-cell lymphoma factor 2(Bcl-2),cysteinylaspartate specific protease 3(CASP3),etc.In addition,the key pathways of NAC treatment of IS are mainly concentrated in lipid and atherosclerosis,advanced glycation end products and receptor for advanced glycation end products(AGE-RAGE),tumor necrosis factor(TNF),interleukin17(IL-17),C-type lectin receptor,apoptosis,hypoxia-inducing factor-1(HIF-1),MAPK and other signaling pathways.Finally,the molecular docking results showed that the key active compounds(quercetin,kaempferol,luteolin and baicalein)had good binding force with the 8 key targets,which initially verified the results of network pharmacology.Conclusion NAC plays a role in the treatment of IS through multi-component,multi-target and multi-pathway.

Based on the theoretical reflection on the reflective function of medical records,the important findings in the practice of medical records writing in the field of palliative care,and conceptual analysis of narrative medicine tools,combined with empirical investigation materials and analysis,this paper focused on the practice of medical records writing for reflection and research.The main contents include defining the concept of narrative medical records,which are medical records used in clinical practice that incorporate narrative content;clarifying their characteristics and functions at different levels;and exploring practical paths for their application in clinical practice.Based on an in-depth exploration of the uniqueness of narrative medicine practice at Peking Union Medical College,it also emphasized the necessity of writing medical records with narrative thinking.Specifically,it focused on using narrative thinking and forms to enhance the improvement of current medical records writing,and further sought a general framework and multiple possibilities for narrative medicine clinical pathways.

Objective:To analyze the clinical characteristics and genetic variants of children with hepatic Wilson disease (WD).Methods:The clinical data and genetic test results of 35 children, who were diagnosed as WD with primary hepatic manifestation in the Department of Gastroenterology, Children′s Hospital of Capital Institute of Pediatrics from March 2018 to March 2022, were retrospectively analyzed. The relationship between phenotype and genotype of patients was analyzed.Results:Among 35 children, there were 24 males and 11 females with a median age at diagnosis of 5.5 (4.0, 7.5) years. All patients had elevated transaminases. The elevated transaminases was found during routine physical examination in 33 cases (94.3%), in whom there was no fever, cough, recurrent vomiting, abdominal pain, diarrhea, jaundice, limb tremor, gait instability and other discomfort 2 weeks before admission, except 1 case with nausea; abdominal ultrasonography showed that 5 cases (15.2%) had no abnormality, and others had different degrees of hepatomegaly, splenomegaly, and echo enhancement in liver parenchyma. Among the remaining 2 cases, one 11-year-old child presented with edema, and had cirrhosis portal hypertension with esophageal varices; another 7-year-old child was diagnosed as acute liver failure manifested with nausea and jaundice. Thirty three patients(94.3%)had decreased serum ceruloplasmin levels (<100 mg/L); 24-h urinary copper concentration was>100 μg in 16 cases (45.7%) and<40 μg in 2 cases (5.7%). The tests of hepatitis B virus, hepatitis C virus, cytomegalovirus and EB virus were all negative in 35 children, and the autoimmune hepatitis antibodies were also negative. A total of 34 different ATP7B gene mutations were detected; the most frequent mutation was c.2333G>T (P.R778L) at exon 8, followed by c.2621C>T(p.A874V)at exon 11 and c.2621C>T(p.A874V)at exon 13. There was no significant difference in clinical phenotype between patients with nonsense mutation, frameshift mutation or splicing mutation and those with only missense mutations( Z=-1.00, t=-0.16, Z=-1.14, Z=-1.03,all P>0.05). Conclusions:The onset of WD in children is obscure, and clinicians should consider this disease in patients presenting with elevated transaminase. Ceruloplasmin and urine copper should be tested timely, the early diagnosis and treatment can improve the prognosis. And there is no significant correlation between genotype and clinical phenotype.

Objective:To describe the prevalence of psychological distress and to analyze its influencing factors among Chinese children and adolescents aged 9-18 years in 2019.Methods:Data was from the 2019 Chinese National Survey on Students' Constitution and Health, and 148 892 children and adolescents were included. Psychological distress was measured using the Kessler Psychological Distress Scale (K10): scores ≤19 were defined as no psychological distress, scores between 20-24 were defined as mild psychological distress, scores between 25-29 were defined as moderate psychological distress, and scores ≥30 were defined as severe psychological distress (moderate to severe psychological distress were defined as high psychological distress). The ANOVA, t test, and χ2 test were used to compare the differences in K10 scores and high psychological distress rates among children and adolescents with different characteristics. The ANOVA and trend χ2 test were used to analyze the trends. Modified-Poisson regression models were used to determine influencing factors of high psychological distress. Results:The K10 scores for Chinese children and adolescents aged 9-18 years in 2019 was 21.5±9.2, and their rate of high psychological distress was 31.6%. The rates of high psychological distress among children and adolescents aged 9-12, 13-15, and 16-18 years were 22.3%, 35.9%, and 38.8%. K10 scores and rates of high psychological distress showed an increasing trend as age increased (trends test all P<0.001). K10 scores and rates of high psychological distress were higher among children and adolescents who were older, female, rural, in areas with medium to low GDP per capita level, and with lower parental education (all P<0.001). Multifactorial modified-Poisson regression analysis showed that children and adolescents aged 13-15 years, 16-18 years, female, rural, and in areas with low to moderate GDP per capita level were at higher risk of high psychological distress (all P<0.05), with a OR (95% CI) of 1.55 (1.52-1.58), 1.66 (1.63-1.69), 1.07 (1.05-1.09), 1.02 (1.01-1.04), 1.10 (1.07-1.12). Children and adolescents in areas with medium to high GDP per capita level, whose father had a secondary or high school degree, whose father had a college degree or above, whose mother had a secondary or high school degree, and whose mother had a college degree or above were at lower risk of high psychological distress (all P<0.05), with a OR (95% CI) of 0.96 (0.94-0.98), 0.92 (0.90-0.93), 0.84 (0.82-0.86), 0.95 (0.93-0.97), 0.86 (0.83-0.88). Conclusions:The prevalence of psychological distress was high among Chinese children and adolescents aged 9-18 years in 2019, which is a vital problem. Mental health interventions need to be implemented among children and adolescents that were older, girls, rural, live in areas with lower economic levels, and whose parents have a lower education level.

Objective:To analyze the detection strategy and basic detection situation of markers of infectious diseases transmitted by transfusion in blood testing laboratories of blood stations in China.Methods:Based on the data of practice comparison working party of Blood Stations in Mainland of China from 2017 to 2021, the data on the testing strategies and the basic detection information of the markers for the transmission of infectious diseases through transfusion in the member laboratories of the practice comparison working party of Blood Stations in Mainland of China from 2017 to 2021 were collected, and the situation of the selection for testing markers, testing strategy and the testing method and other relevant aspects were sorted out and analyzed by charts.Results:The selection of the testing markers was consistent, but HTLV testing item was added in some member laboratories. The detection strategy of using two ELISA reagents and one nucleic acid testing (NAT) reagent simultaneously was adopted in 47 member blood stations; 3) NAT method was dominated by mini pool-NAT in member laboratories. The number of members adopting mini-pools of 8 (MP8)-NAT decreased from 17 in 2017 to 14 in 2021, while the number of members adopting mini-pools of 6 (MP6)-NAT increased from 13 in 2017 to 22 in 2021; Roche NAT system accounted for the largest proportion.Conclusions:In order to ensure blood safety and avoid missing detection, the blood stations still adopt the detection strategy of using two ELISA reagents and one nucleic acid testing (NAT) reagent simultaneously; Meanwhile, in order to increase the NAT positive rate, the proportion of mini pool-NAT mainly decreased year by year despite its dominating role, while the proportion of individual donation-NAT increased year by year; NAT method is transiting from mini-pools of 8 (MP8) to mini-pools of 6 (MP6); The proportion of imported NAT system used in NAT laboratory is relatively large.

【Objective】 To evaluate and analyze the impact of COVID-19 epidemic on inventory of red blood cells (RBCs)in local and municipal blood stations in China, and to provide reference for the management of public health emergencies. 【Methods】 Relevant data from 2018 to 2021 were collected, and the differences in the volume of qualified RBCs, the usage efficiency of inventory RBCs, the average daily distribution of RBCs,the blood distribution rate of RBCs prepared by 400 mL whole blood, the difference in the average storage days of RBCs at the time of distribution, the average daily inventory of RBCs and the time of the average daily inventory of RBCs to maintain the distribution in 24 local and municipal blood stations in China during the COVID-19 epidemic and non-epidemic periods were retrospectively analyzed. 【Results】 Compared with non-epidemic periods, the volume of qualified RBCs [(117 525.979 ±52 203.175)U] and the average daily distribution of RBCs [( 156. 468 ± 70. 186) U ] increased significantly, but the usage efficiency of inventory RBCs decreased(97.24%±0.51%) significantly (P<0.05).There was no significant difference in the blood distribution rate of RBCs prepared by 400 mL whole blood(73.88%±20.30%), the average storage days of RBCs distribution(13.040 ±3.486), the average daily stock quantity of RBCs[(2 280.542 ±1 446.538) U ] and the time of the average daily inventory of RBCs to maintain the distribution[(15.062 ±7.453) d] (P>0.5). 【Conclusion】 During the COVID-19 epidemic, the inventory management of RBCs operated well, the overall inventory remained relatively stable, the stock composition and storage period showed no significant change.

Objective:To investigate the clinical characteristics of hepatitis-associated aplastic anaemia(HAAA)in children.Methods:A retrospective analysis was performed on the clinical manifestations, laboratory examinations, treatments and other clinical data of five children with aplastic anemia(AA)diagnosed by bone marrow examination after admission with acute liver dysfunction admitted to the Department of Gastroenterology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2016 to December 2020.Results:All five children were boys and the onset age of these children ranged from 2 to 13 years.All of the five cases were acute onset and presented with jaundice.The time frame of the diagnosis of HAAA was 0 to 12 weeks from the presentation of the liver disease.One patient had simultaneous onset of hepatitis and aplastic anemia.The liver function was significantly improved at the diagnosis of HAAA in three patients and worsen in one patient.Only one patient showed CMV-DNA positive and the pathogen results of other patients were negative.Lymphocyte immunity disorders were found in all five patients, and the proportion of inhibitory/cytotoxic T lymphocytes(CD3 + CD8 + ) increased.Two children received hematopoietic stem cell transplantation, of which one died and one improved after transplantation.One child improved after treated with antithymocyteglobulin and cyclosporin.One child died due to severe infection.There was no significant improvement in one child treated with cyclosporine. Conclusion:HAAA should be alerted in acute hepatitis patients.Blood routine should be monitored even if liver function improves.Bone marrow tests are needed if patients have peripheral cytopenia in two or more lineages.Early and timely treatments with immunosuppressive therapy and hematopoietic stem cell transplantation can improve the prognosis.

Atrial Appendage/surgery* ; Atrial Fibrillation ; Cardiac Surgical Procedures ; Echocardiography, Transesophageal ; Humans ; Stroke ; Thromboembolism ; Thrombosis ; Treatment Outcome

Objective: To analyze the safety and efficacy of combined left atrial appendage (LAA) and patent foramen ovale (PFO) closure in adult atrial fibrillation (AF) patients complicating with PFO. Methods: This study is a retrospective and cross-sectional study. Seven patients with AF complicated with PFO diagnosed by transesophageal echocardiography (TEE) in Zhoupu Hospital Affiliated to Shanghai University of Medicine & Health Sciences from June 2017 to October 2020 were selected. Basic data such as age, gender and medical history were collected. The atrial septal defect or PFO occluder and LAA occluder were selected according to the size of PFO, the ostia width and depth of LAA. Four patients underwent left atrial appendage closure(LAAC) and PFO closure at the same time. PFO closure was performed during a one-stop procedure of cryoablation combined with LAAC in 2 patients. One patient underwent PFO closure at 10 weeks after one-stop procedure because of recurrent transient ischemic attack (TIA). All patients continued to take oral anticoagulants. TEE was repeated 8-12 weeks after intervention. In case of device related thrombus(DRT), TEE shall be rechecked 6 months after adjusting anticoagulant and antiplatelet drug treatment. Patients were follow-up at 1, 3, 6, 12, 24 months by telephone call, and the occurrence of cardio-cerebrovascular events was recorded. Results: Among the 7 patients with AF, 2 were male, aged (68.0±9.4) years, and 3 had a history of recurrent cerebral infarction and TIA. Average PFO diameter was (3.5±0.8)mm. Three patients were implanted with Watchman LAA occluder (30, 30, 33 mm) and atrial septal defect occluder (8, 9, 16 mm). 2 patients were implanted with LAmbre LAA occluder (34/38, 18/32 mm) and PFO occluder (PF1825, PF2525). 2 patients were implanted with LACbes LAA occluder (24, 28 mm) and PFO occluder (PF2525, PF1825) respectively. The patients were followed up for 12 (11, 24) months after operation. TEE reexamination showed that the position of LAA occluder and atrial septal defect occluder or PFO occluder was normal in all patients. DRT was detected in 1 patient, and anticoagulant therapy was adjusted in this patient. 6 months later, TEE showed that DRT disappeared. No cardiovascular and cerebrovascular events occurred in all patients with AF during follow-up. Conclusions: In AF patients complicated with PFO, LAAC combined with PFO closure may have good safety and effectiveness.
Adult ; Aged ; Atrial Appendage/surgery* ; Atrial Fibrillation/surgery* ; Cardiac Catheterization/methods* ; China ; Cross-Sectional Studies ; Foramen Ovale, Patent/surgery* ; Humans ; Male ; Middle Aged ; Retrospective Studies