OBJECTIVETo analyze the clinical characteristics of peripartum cardiomyopathy and to evaluate the different factors that influence the prognosis of the peripartum cardiomyopathy.

METHODA retrospective review was undertaken on records of women who were diagnosed with peripartum cardiomyopathy at Peking Union Medical College Hospital between Jan. 1983 and May 1999.

RESULTSDuring the research period, only 16 pregnant women were documented as peripartum cardiomyopathy. Some of the women undertook ultrasonic cardiographic (UCG) examination that showed decreased systolic function. Seven women were complicated with pregnancy induced hypertension. Three died of disseminated intravascular coagulation, embolism and cardiogenic shock respectively.

CONCLUSIONEarly diagnosis of the peripartum cardiomyopathy is extremely important. The UCG can provide helpful information on disease progression or regression.

Adult ; Cardiomyopathy, Dilated ; diagnosis ; diagnostic imaging ; therapy ; Female ; Humans ; Pre-Eclampsia ; diagnosis ; therapy ; Pregnancy ; Pregnancy Complications, Cardiovascular ; diagnosis ; diagnostic imaging ; therapy ; Prognosis ; Puerperal Disorders ; diagnosis ; diagnostic imaging ; therapy ; Retrospective Studies ; Ultrasonography

Objective. Analysis of the cause of intrauterine death of one fetus of twin and to evaluate the outcome of conservative management of twin pregnancy with single fetal death.Method.A retrospective review was undertaken on PUMC hospital records of women who delivered twin between Jan. 1987 and Dec. 1998.Result.During the recent 12 years, 99 pregnant women were documented as twin pregnancies. Of the twin pregnancies during this period, 13 were complicated by a single intrauterine death. Four women suffered this complication during their first trimester. In the remain 9 cases one fetus died during second or third trimester. The cesarean section was given in three pregnant women soon after a single intrauterine death because of the survival fetal distress. No consumptive coagulopathy was apparent in all 13 pregnant women. It is wise that the pregnancy was managed conservatively, with regular coagulation parameters obtained.Conclusion.Our results support conservative management in twin pregnancies complicated by single fetal death.

Objective:To investigate the effect of clinical nursing pathway in prevention of contrast induced nephropathy in percutaneous coronary intervention patients.Methods:A total of 118 cases of coronary heart disease patients who had undergo percutaneous coronary intervention in hospital from May 2018 to May 2019 were randomly divided into the intervention group ( n=59) and the control group ( n=59). Participants in the control group received routine nursing, while the intervention group carried out clinical nursing pathway nursing method. The renal index such as serum creatinine, blood urea nitrogen, urine β 2 microglobulin, N-acetyl-beta-D-glucosidase (NAG) were compared before and after intervention between two groups, the incidence of CIN were also compared. Meanwhile, the psychology status and sleep quality was assessed by self-rating anxiety scale (SAS), self-rating depression scale (SDS) and Pittsburgh sleep quality index (PSQI), respectively. Results:The 3 rd day after the operation, serum creatinine, serum urea nitrogen, urine β 2 microglobulin, NAG in the intervention group and control group were (81.06±15.60) μmol/L, (9.43 ± 2.73) mmol/L, (256.87 ± 18.99) μg/L, (19.56 ± 2.44) U/L and (87.87 ± 19.60) μmol/L, (10.55 ± 2.18) mmol/L, (270.45 ± 40.85) μg/L, (20.60 ± 2.13) U/L, respectively. The levels of serum creatinine, serum urea nitrogen, urine β 2 microglobulin, NAG were significantly increased in the intervention group compared to the control group ( t=2.087-2.464, P<0.05). The incidence of CIN in the intervention group were 3.4% (2/59) and 13.6% (8/59) in the control group, the differences had statistical significance ( χ2=3.933, P<0.05). In addition, the scores of SAS, SDS and sleep quality, sleep time, sleep duration, daytime function and total PSQI score were (44.71 ± 8.20), (41.36 ± 6.52), (0.78 ± 0.11), (1.02 ± 0.15), (1.20 ± 0.19), (0.97 ± 0.27), (6.42 ± 0.54), those index were (48.85 ± 6.52), (46.49 ± 8.29), (1.03 ± 0.21), (1.23 ± 0.28), (1.44 ± 0.30), (1.30 ± 0.28), (7.79 ± 0.69), the differences had statistical significance ( t=3.033-12.016, P<0.05). Conclusion:Clinical nursing pathway can improve renal function, reduce the incidence of contrast-induced nephropathy, and improve psychological status and sleep quality of percutaneous coronary intervention patients.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Background and Objectives: p21, an important member of the Cip/Kip family, is involved in inhibitory effects of RUNX1b overexpression during the early stage of human hematopoiesis. Methods: and Results: We established a human embryonic stem cell (hESC) line with inducible expression of p21 (p21/hESCs). Overexpression of p21 did not influence either mesoderm induction or emergence of CD34＋ cells, but it significantly decreased the production of CD43＋ cells and changed the expression profile of hematopoiesis-related factors, leading to the negative effects of p21 on hematopoiesis. Conclusions In RUNX1b/hESC co-cultures when RUNX1b was induced from D0, perturbation of the cell cycle caused by upregulation of p21 probably prevented the appearance of CD43＋ cells, but not CD34＋ cells. The mechanisms via which CD34＋ cells are blocked by RUNX1b overexpression remain to be elucidated.

Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.