Background: Hemolytic Disease of the Fetus and Newborn (HDFN) arises from blood group incompatibility, especially the RhD antigen. In Benin, systematic ABO RhD blood grouping is poorly understood by many midwives and ...Background: Hemolytic Disease of the Fetus and Newborn (HDFN) arises from blood group incompatibility, especially the RhD antigen. In Benin, systematic ABO RhD blood grouping is poorly understood by many midwives and nurses. Nearly one in ten women risk having children with HDFN. This study aimed to determine the level of knowledge of the Beninese population on HDFN. Methods: Data were collected from June 2023 to March 2024. Participants completed a Kobotoolbox questionnaire on WhatsApp, with in-person assistance for illiterate participants. The study involved 521 participants from across Benin. Data were analyzed using SigmaPlot version 14.0. Results: Among the 521 participants, 298 were women (57.20%) aged 18 to 77 years. The majority (40.69%) were aged 26 - 35. Over a third (35.51%) did not know their RhD blood group. Most (59.12%) were unaware of the risks for RhD discordant couples. Among those with a partner, 25.16% were in at-risk couples for HDFN, and over half (59.12%) were unaware of this risk. There was no significant association between being in a high-risk union and knowledge of the risk or education level. Conclusion: Only 40.88% of the Beninese population are aware of HDFN, indicating a low level of knowledge.展开更多
BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic dis...BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn(HDN).Unfortunately,regional status of Rh-HDN is unavailable.We hypothesize that Rh-HDN in our region is most commonly due to anti-E antibody.AIM To investigate the prevalence of hemolytic disease of the newborn due to Rhisoimmunization in Hefei City.METHODS Retrospective review of data obtained from Children’s Hospital of Anhui and Hefei Blood Center between January 2017 and June 2019.Status of minor blood group antibody was studied in the corresponding mothers.RESULTS Totally 4138 newborns with HDN admitted during the study period and 116(2.8%)received blood exchange transfusion(BET).Eighteen newborns(0.43%)with proven Rh-incompatible HDN were identified.All were not the first-born baby.Thirteen mothers were RhD(+)(72%)and five were RhD(-).The distribution of Rh-related antibodies in mothers was ten anti-E(55%),five anti-D(27%),and for one anti-C,anti-c,and anti-E/c(6%)each.Thirteen(72.2%)were qualified for BET,relative risk for BET was 28.9 as compared to other types of HDN,but only 10 received due to parenteral refusal.All(100%)RhD related HDN received BET which is not significantly different from RhE related HDN(81.8%).CONCLUSION As expected,all Rh-incompatible HDN newborns were not the first-born.Contrary to the Caucasian population,anti-D induced HDN is not the most common etiology.In our region,anti-E(11/18,61%)is the most common cause of Rh-HDN.展开更多
A Chinese woman of blood group B,D-and her husband of blood group AB,CCDeewere examined.The woman had not been transfused before.Their first two babiesdied.Anti-Hro and anti-e were found in the mother’s serum.During ...A Chinese woman of blood group B,D-and her husband of blood group AB,CCDeewere examined.The woman had not been transfused before.Their first two babiesdied.Anti-Hro and anti-e were found in the mother’s serum.During her third pregnancy,the titer of antibodies went up quickly,approximately one titer per month.After 36 weeksof pregnancy,the baby was delivered by Caesarean section.The cord blood Hb was 88g/L,his red blood cell count 2.7×10<sup>12</sup>/L,and total biIirubin 114.6 mol/L.The baby was ofblood group AB,and CDe-D-genotype.Exchangetransfusion was begun 2.5 hours afterbirth.O,ccDEE washed red cells together with group AB plasma were used.Two dayslater,7Oml washed O,ccDEE concentrated red cells were administered.The baby is aliveand in good health.展开更多
Free radicals (FRs) generation is an unavoidable consequence of the life in an oxygen-rich atmosphere. FRs can be considered a double-edged sword. Beneficial effects of FRs occur at moderate concentrations and involve...Free radicals (FRs) generation is an unavoidable consequence of the life in an oxygen-rich atmosphere. FRs can be considered a double-edged sword. Beneficial effects of FRs occur at moderate concentrations and involve physiological roles in cellular responses to noxia, as in defense against infectious agents, in the function of a number of cellular signaling pathways and the induction of a mitogenic response. The over-production of FRs and the insufficiency of an antioxidant mechanism result in oxidative stress (OS), a deleterious process and important mediator of damage to cell structures and tissues. It occurs at birth in all newborns as a consequence of the hyperoxic challenge after the transition from the hypoxic intrauterine environment to extrauterine life. During the perinatal period, OS can be magnified by others predisposing conditions such as hyperoxia, hypoxia, ischemia, hypoxia-reperfusion, inflammation and high levels of non-protein bound iron. Epidemiological studies linked OS occurring during fetal stages and early infancy with adverse health outcomes later in life, indicating that OS is an early event in the etiology of these chronic diseases. Newborns, especially if preterm, are particularly susceptible to OS and damage due to the increased generation of FRs, the lack of adequate antioxidant protection, and the inability to induce antioxidant defenses during the hyperoxic challenge at birth. This impairment of the oxidative balance has been thought to be the common factor of pathologies grouped together as “free radical disease in the neonate” that include retinopathy of prematurity (which may lead to blindness in severe cases), bronchopulmonary dysplasia (a particularly debilitating pulmonary lesion of the preterm infant), periventricular leukomalacia (an important cause of severe neurodisability) and necrotizing enterocolitis. In this review we discuss in detail these perinatal diseases. Particularly, we analyze the current knowledge about the role of OS in their pathogenesis.展开更多
Aim: This study was aimed to review and establish the practice of exchange transfusion (ET) with whole blood reconstituted (WBR) in hemolytic disease of newborn (HDN). Objectives: To observe fall in indirect serum bil...Aim: This study was aimed to review and establish the practice of exchange transfusion (ET) with whole blood reconstituted (WBR) in hemolytic disease of newborn (HDN). Objectives: To observe fall in indirect serum bilirubin, correction of anemia and comparison with related studies. Background: Hemolytic disease of the Newborn is characterized by presence of IgG antibodies in maternal circulation, which causes hemolysis in the fetus by crossing the placenta and sensitizing red cells for destruction by macrophages in the fetal spleen with consequent hyperbilirubinemia. Exchange transfusion with or without phototherapy is the method of choice for treating the newborn with on going hemolysis Methods/Materials: Sample size consisted of 110 neonates in whom 119 exchange transfusions were carried out with WBR. WBR was prepared by suspending O Rhesus-D (RhD) positive/negative cells (compatible with neonate’s/ mother’s serum) in AB plasma. Double volume exchange transfusion(s) were carried out through umbilical vein by push-pull technique. Results: Out of 110 cases, 61 (55.5%) were of RhD HDN whereas ABO and other group HDN cases were 30 (27.3%) and 19 (17.3%) respectively. An average post-ET fall in indirect serum bilirubin by 54.6% and correction of anemia by3.7 gm/dl were reported in the study. Conclusion: An average post-ET fall in indirect serum bilirubin and correction of anemia was found to be more significant when compared to other studies. Hence we recommend exchange transfusion in HDN with WBR to obtain reasonable fall in indirect serum bilirubin and high average rate of correction of anemia.展开更多
Based on the New Diagnosis and Treatment Scheme for Novel Coronavirus Infected Pneumonia(Trial Edition 5),combined with our current clinical treatment experience,we recently proposed a revision of the first edition of...Based on the New Diagnosis and Treatment Scheme for Novel Coronavirus Infected Pneumonia(Trial Edition 5),combined with our current clinical treatment experience,we recently proposed a revision of the first edition of“Guidance for maternal and fctal management during pneumonia epidemics of novel coronavirus infection in the Wuhan Tongji Hospital".This article focused on the issues of greatest concern of pregnant women including severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection diagnostic criteria,inspection precautions,drug treatment options,indications and methods of termination of pregnancy,postpartum fever,breastfeeding considerations,mode of mother-to-child transmission,neonatal isolation and advice on nconatal nursing,to provide valuable experience for better management of SARS-CoV-2 infection in pregnant women and newborns.展开更多
Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn disease...Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.展开更多
Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this stud...Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this study was to determine the in-hospital prevalence of congenital heart disease in children at the Mother-Child hospital of Bingerville (HME) by specifying the diagnostic, therapeutic and evolutionary aspects. Materials and methods We conducted a retrospective, descriptive, cross-sectional study at HME of Bingerville from January 2021 to December 2022. All newborns with congenital heart disease confirmed by echocardiography were included in the study. Results Of 656 admissions to the neonatology department over the study period, congenital heart disease accounted for 14.9% (98/656) of cases. In our series, 76.7% were diagnosed before the 1st week of life, with a mean chronological age of 5.18 days and extremes of 0 and 46 days. There were as many male patients (50%) as female (50%), i.e. a sex ratio of 1. These newborns were premature in 60.2% of cases, with a mean and median gestational age of 34 weeks’ amenorrhea. Most were left-right shunts (90.8%). Persistent ductus arteriosus (PDA) (48.9%) predominated, followed by atrial septal defect (38.7%), ventricular septal defect (13.3%), common trunk artery (CTA) (3.1%) and open septal pulmonary atresia (OSPA) (1%) as the primary cyanogenic heart disease. Pulmonary arterial hypertension (PAH) (50%) was primary in 38.8% and secondary (61.2%). The mortality rate was 30.6%, and all CTA patients died (100%), with a significant statistical relationship (p = 0.027). Progression under treatment was marked by clinical stabilization (68/98) in 69.4% of cases. Conclusion: Congenital heart disease is relatively common at the Bingerville HME. Access to echocardiography should be facilitated in neonatology departments for rapid diagnosis and optimal management of congenital heart disease in newborns.展开更多
BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper metabolism.Acute liver failure(ALF)and hemolytic anemia represent the most severe presentation of WD in children.No clear geno...BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper metabolism.Acute liver failure(ALF)and hemolytic anemia represent the most severe presentation of WD in children.No clear genotype-phenotype correlations exist in WD.Protein-truncating nonsense,frame-shift,or splice-site variants may be associated with more severe disease.In contrast,missense variants may be associated with late-onset,less severe disease,and more neurological manifestations.Recently,a gene variant(HSD17B13:TA,rs72613567)with a possible hepatic protective role against toxins was associated with a less severe hepatic phenotype in WD.AIM To analyze the possible genotype-phenotype correlations in children with WD presented with ALF and non-immune hemolytic anemia.METHODS The medical records of children with WD diagnosed and treated in our hospital from January 2006 to December 2020 were retrospectively analyzed.The clinical manifestations(ALF with non-immune hemolytic anemia or other less severe forms),laboratory parameters,copper metabolism,ATP7B variants,and the HSD17B13:TA(rs72613567)variant were reviewed to analyze the possible genotype-phenotype correlations.RESULTS We analyzed the data of 51 patients with WD,26 females(50.98%),with the mean age at the diagnosis of 12.36±3.74 years.ALF and Coombs-negative hemolytic anemia was present in 8 children(15.67%),all adolescent girls.The Kayser-Fleisher ring was present in 9 children(17.65%).The most frequent variants of the ATP7B gene were p.His1069Gln(c.3207A>G)in 38.24% of all alleles,p.Gly1341Asp(c.4021G>A)in 26.47%,p.Trp939Cys(c.2817G>T)in 9.80%,and p.Lys844Ter(c.2530A>T)in 4.90%.In ALF with hemolytic anemia,p.Trp939Cys(c.2817G>T)and p.Lys844Ter(c.2530A>T)variants were more frequent than in other less severe forms,in which p.His1069Gln(c.3207A>G)was more frequent.p.Gly1341Asp(c.4021G>A)has a similar frequency in all hepatic forms.For 33 of the patients,the HSD17B13 genotype was evaluated.The overall HSD17B13:TA allele frequency was 24.24%.Its frequency was higher in patients with less severe liver disease(26.92%)than those with ALF and hemolytic anemia(14.28%).CONCLUSION It remains challenging to prove a genotype-phenotype correlation in WD patients.In children with ALF and hemolytic anemia,the missense variants other than p.His1069Gln(c.3207A>G)and frame-shift variants were the most frequently present in homozygous status or compound heterozygous status with site splice variants.As genetic analysis is usually time-consuming and the results are late,the importance at the onset of the ALF is questionable.If variants proved to be associated with severe forms are found in the pre-symptomatic phase of the disease,this could be essential to predict a possible severe evolution.展开更多
Background Prenatal diagnosis and planned peripartum care is an unexplored concept in China.This study aimed to evaluate the effects of the“prenatal diagnosis and postnatal treatment integrated model”for newborns wi...Background Prenatal diagnosis and planned peripartum care is an unexplored concept in China.This study aimed to evaluate the effects of the“prenatal diagnosis and postnatal treatment integrated model”for newborns with critical congenital heart disease.Methods The medical records of neonates(≤28 days)admitted to Fuwai Hospital were reviewed retrospectively from January 2019 to December 2020.The patients were divided into“prenatal diagnosis and postnatal treatment integrated group”(n=47)and“non-integrated group”(n=69).Results The age of admission to the hospital and the age at surgery were earlier in the integrated group than in the non-integrated group(5.2±7.2 days vs.11.8±8.0 days,P<0.001;11.9±7.0 days vs.16.5±7.7 days,P=0.001,respectively).The weight at surgery also was lower in the integrated group than in the non-integrated group(3.3±0.4 kg vs.3.6±0.6 kg,P=0.010).Longer postoperative recovery time was needed in the integrated group,with a median mechanical ventilation time of 97 h(interquartile range 51–259 h)vs.69 h(29–168 h)(P=0.030)and with intensive care unit time of 13.0 days(8.0–21.0 days)vs.9.0 days(4.5–16.0 days)(P=0.048).No significant difference was observed in the all-cause mortality(2.1 vs.8.7%,P=0.238),but it was significantly lower in the integrated group for transposition of the great arteries(0 vs.18.8%,log rank P=0.032).Conclusions The prenatal diagnosis and postnatal treatment integrated model could significantly shorten the diagnosis and hospitalization interval of newborns,and surgical intervention could be performed with a lower risk of death,especially for transposition of the great arteries.展开更多
目的探讨单核细胞单层实验(monocyte monolayer assay,MMA)是否能够用于IgG抗-M相关胎儿新生儿溶血病(hemolytic disease of fetus and newborn,HDFN)的预测。方法选取8例含有IgG抗-M的孕妇并采集血浆标本,其中有胎儿水肿等严重临床症...目的探讨单核细胞单层实验(monocyte monolayer assay,MMA)是否能够用于IgG抗-M相关胎儿新生儿溶血病(hemolytic disease of fetus and newborn,HDFN)的预测。方法选取8例含有IgG抗-M的孕妇并采集血浆标本,其中有胎儿水肿等严重临床症状及无明显临床症状的各4例;8份血浆用二硫苏糖醇(dithiothreitol,DTT)灭活,与M抗原阳性红细胞孵育致敏后,将致敏红细胞与单核细胞混合进行吞噬试验,同时设立阳性及阴性对照,并计算吞噬率;采用t检验对2组吞噬率进行比较。结果4例发生严重抗-M相关HDFN的孕妇的MMA吞噬率分别为15.37%、13.05%、9.17%和24.50%,均值为15.52%;检出IgG抗-M但未发生HDFN的孕妇,其MMA吞噬率分别为8.74%、11.07%、5.12%和6.23%,均值为7.79%,2组吞噬率无差异(P>0.05)。2组吞噬率分别与阴性对照比较均无差异(P>0.05),但均明显低于阳性对照(P<0.05)。结论IgG抗-M介导单核细胞吞噬的能力较低,提示抗-M导致胎儿水肿的机制可能并非红细胞被吞噬破坏而发生的溶血,因此体外单核细胞单层实验可能不适用于IgG抗-M相关HDFN的预测。对于检出IgG抗-M的孕妇,现仍需通过定期监测胎儿大脑中动脉血流,来判断胎儿宫内贫血情况。展开更多
文摘Background: Hemolytic Disease of the Fetus and Newborn (HDFN) arises from blood group incompatibility, especially the RhD antigen. In Benin, systematic ABO RhD blood grouping is poorly understood by many midwives and nurses. Nearly one in ten women risk having children with HDFN. This study aimed to determine the level of knowledge of the Beninese population on HDFN. Methods: Data were collected from June 2023 to March 2024. Participants completed a Kobotoolbox questionnaire on WhatsApp, with in-person assistance for illiterate participants. The study involved 521 participants from across Benin. Data were analyzed using SigmaPlot version 14.0. Results: Among the 521 participants, 298 were women (57.20%) aged 18 to 77 years. The majority (40.69%) were aged 26 - 35. Over a third (35.51%) did not know their RhD blood group. Most (59.12%) were unaware of the risks for RhD discordant couples. Among those with a partner, 25.16% were in at-risk couples for HDFN, and over half (59.12%) were unaware of this risk. There was no significant association between being in a high-risk union and knowledge of the risk or education level. Conclusion: Only 40.88% of the Beninese population are aware of HDFN, indicating a low level of knowledge.
文摘BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn(HDN).Unfortunately,regional status of Rh-HDN is unavailable.We hypothesize that Rh-HDN in our region is most commonly due to anti-E antibody.AIM To investigate the prevalence of hemolytic disease of the newborn due to Rhisoimmunization in Hefei City.METHODS Retrospective review of data obtained from Children’s Hospital of Anhui and Hefei Blood Center between January 2017 and June 2019.Status of minor blood group antibody was studied in the corresponding mothers.RESULTS Totally 4138 newborns with HDN admitted during the study period and 116(2.8%)received blood exchange transfusion(BET).Eighteen newborns(0.43%)with proven Rh-incompatible HDN were identified.All were not the first-born baby.Thirteen mothers were RhD(+)(72%)and five were RhD(-).The distribution of Rh-related antibodies in mothers was ten anti-E(55%),five anti-D(27%),and for one anti-C,anti-c,and anti-E/c(6%)each.Thirteen(72.2%)were qualified for BET,relative risk for BET was 28.9 as compared to other types of HDN,but only 10 received due to parenteral refusal.All(100%)RhD related HDN received BET which is not significantly different from RhE related HDN(81.8%).CONCLUSION As expected,all Rh-incompatible HDN newborns were not the first-born.Contrary to the Caucasian population,anti-D induced HDN is not the most common etiology.In our region,anti-E(11/18,61%)is the most common cause of Rh-HDN.
文摘A Chinese woman of blood group B,D-and her husband of blood group AB,CCDeewere examined.The woman had not been transfused before.Their first two babiesdied.Anti-Hro and anti-e were found in the mother’s serum.During her third pregnancy,the titer of antibodies went up quickly,approximately one titer per month.After 36 weeksof pregnancy,the baby was delivered by Caesarean section.The cord blood Hb was 88g/L,his red blood cell count 2.7×10<sup>12</sup>/L,and total biIirubin 114.6 mol/L.The baby was ofblood group AB,and CDe-D-genotype.Exchangetransfusion was begun 2.5 hours afterbirth.O,ccDEE washed red cells together with group AB plasma were used.Two dayslater,7Oml washed O,ccDEE concentrated red cells were administered.The baby is aliveand in good health.
文摘Free radicals (FRs) generation is an unavoidable consequence of the life in an oxygen-rich atmosphere. FRs can be considered a double-edged sword. Beneficial effects of FRs occur at moderate concentrations and involve physiological roles in cellular responses to noxia, as in defense against infectious agents, in the function of a number of cellular signaling pathways and the induction of a mitogenic response. The over-production of FRs and the insufficiency of an antioxidant mechanism result in oxidative stress (OS), a deleterious process and important mediator of damage to cell structures and tissues. It occurs at birth in all newborns as a consequence of the hyperoxic challenge after the transition from the hypoxic intrauterine environment to extrauterine life. During the perinatal period, OS can be magnified by others predisposing conditions such as hyperoxia, hypoxia, ischemia, hypoxia-reperfusion, inflammation and high levels of non-protein bound iron. Epidemiological studies linked OS occurring during fetal stages and early infancy with adverse health outcomes later in life, indicating that OS is an early event in the etiology of these chronic diseases. Newborns, especially if preterm, are particularly susceptible to OS and damage due to the increased generation of FRs, the lack of adequate antioxidant protection, and the inability to induce antioxidant defenses during the hyperoxic challenge at birth. This impairment of the oxidative balance has been thought to be the common factor of pathologies grouped together as “free radical disease in the neonate” that include retinopathy of prematurity (which may lead to blindness in severe cases), bronchopulmonary dysplasia (a particularly debilitating pulmonary lesion of the preterm infant), periventricular leukomalacia (an important cause of severe neurodisability) and necrotizing enterocolitis. In this review we discuss in detail these perinatal diseases. Particularly, we analyze the current knowledge about the role of OS in their pathogenesis.
文摘Aim: This study was aimed to review and establish the practice of exchange transfusion (ET) with whole blood reconstituted (WBR) in hemolytic disease of newborn (HDN). Objectives: To observe fall in indirect serum bilirubin, correction of anemia and comparison with related studies. Background: Hemolytic disease of the Newborn is characterized by presence of IgG antibodies in maternal circulation, which causes hemolysis in the fetus by crossing the placenta and sensitizing red cells for destruction by macrophages in the fetal spleen with consequent hyperbilirubinemia. Exchange transfusion with or without phototherapy is the method of choice for treating the newborn with on going hemolysis Methods/Materials: Sample size consisted of 110 neonates in whom 119 exchange transfusions were carried out with WBR. WBR was prepared by suspending O Rhesus-D (RhD) positive/negative cells (compatible with neonate’s/ mother’s serum) in AB plasma. Double volume exchange transfusion(s) were carried out through umbilical vein by push-pull technique. Results: Out of 110 cases, 61 (55.5%) were of RhD HDN whereas ABO and other group HDN cases were 30 (27.3%) and 19 (17.3%) respectively. An average post-ET fall in indirect serum bilirubin by 54.6% and correction of anemia by3.7 gm/dl were reported in the study. Conclusion: An average post-ET fall in indirect serum bilirubin and correction of anemia was found to be more significant when compared to other studies. Hence we recommend exchange transfusion in HDN with WBR to obtain reasonable fall in indirect serum bilirubin and high average rate of correction of anemia.
文摘Based on the New Diagnosis and Treatment Scheme for Novel Coronavirus Infected Pneumonia(Trial Edition 5),combined with our current clinical treatment experience,we recently proposed a revision of the first edition of“Guidance for maternal and fctal management during pneumonia epidemics of novel coronavirus infection in the Wuhan Tongji Hospital".This article focused on the issues of greatest concern of pregnant women including severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection diagnostic criteria,inspection precautions,drug treatment options,indications and methods of termination of pregnancy,postpartum fever,breastfeeding considerations,mode of mother-to-child transmission,neonatal isolation and advice on nconatal nursing,to provide valuable experience for better management of SARS-CoV-2 infection in pregnant women and newborns.
基金the Foundation of National Key R&D Program of China of Research on Application Demonstration and Evaluation of Comprehensive Prevention And Control Technology of Birth Defects(Grant No.2018YFC1002700)Zhejiang R&D Research Project Research on New Technologies for Birth Health,Birth Safety and Perinatal Disease Diagnosis and Treatment(Grant No.2021C03099).
文摘Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.
文摘Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this study was to determine the in-hospital prevalence of congenital heart disease in children at the Mother-Child hospital of Bingerville (HME) by specifying the diagnostic, therapeutic and evolutionary aspects. Materials and methods We conducted a retrospective, descriptive, cross-sectional study at HME of Bingerville from January 2021 to December 2022. All newborns with congenital heart disease confirmed by echocardiography were included in the study. Results Of 656 admissions to the neonatology department over the study period, congenital heart disease accounted for 14.9% (98/656) of cases. In our series, 76.7% were diagnosed before the 1st week of life, with a mean chronological age of 5.18 days and extremes of 0 and 46 days. There were as many male patients (50%) as female (50%), i.e. a sex ratio of 1. These newborns were premature in 60.2% of cases, with a mean and median gestational age of 34 weeks’ amenorrhea. Most were left-right shunts (90.8%). Persistent ductus arteriosus (PDA) (48.9%) predominated, followed by atrial septal defect (38.7%), ventricular septal defect (13.3%), common trunk artery (CTA) (3.1%) and open septal pulmonary atresia (OSPA) (1%) as the primary cyanogenic heart disease. Pulmonary arterial hypertension (PAH) (50%) was primary in 38.8% and secondary (61.2%). The mortality rate was 30.6%, and all CTA patients died (100%), with a significant statistical relationship (p = 0.027). Progression under treatment was marked by clinical stabilization (68/98) in 69.4% of cases. Conclusion: Congenital heart disease is relatively common at the Bingerville HME. Access to echocardiography should be facilitated in neonatology departments for rapid diagnosis and optimal management of congenital heart disease in newborns.
文摘BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper metabolism.Acute liver failure(ALF)and hemolytic anemia represent the most severe presentation of WD in children.No clear genotype-phenotype correlations exist in WD.Protein-truncating nonsense,frame-shift,or splice-site variants may be associated with more severe disease.In contrast,missense variants may be associated with late-onset,less severe disease,and more neurological manifestations.Recently,a gene variant(HSD17B13:TA,rs72613567)with a possible hepatic protective role against toxins was associated with a less severe hepatic phenotype in WD.AIM To analyze the possible genotype-phenotype correlations in children with WD presented with ALF and non-immune hemolytic anemia.METHODS The medical records of children with WD diagnosed and treated in our hospital from January 2006 to December 2020 were retrospectively analyzed.The clinical manifestations(ALF with non-immune hemolytic anemia or other less severe forms),laboratory parameters,copper metabolism,ATP7B variants,and the HSD17B13:TA(rs72613567)variant were reviewed to analyze the possible genotype-phenotype correlations.RESULTS We analyzed the data of 51 patients with WD,26 females(50.98%),with the mean age at the diagnosis of 12.36±3.74 years.ALF and Coombs-negative hemolytic anemia was present in 8 children(15.67%),all adolescent girls.The Kayser-Fleisher ring was present in 9 children(17.65%).The most frequent variants of the ATP7B gene were p.His1069Gln(c.3207A>G)in 38.24% of all alleles,p.Gly1341Asp(c.4021G>A)in 26.47%,p.Trp939Cys(c.2817G>T)in 9.80%,and p.Lys844Ter(c.2530A>T)in 4.90%.In ALF with hemolytic anemia,p.Trp939Cys(c.2817G>T)and p.Lys844Ter(c.2530A>T)variants were more frequent than in other less severe forms,in which p.His1069Gln(c.3207A>G)was more frequent.p.Gly1341Asp(c.4021G>A)has a similar frequency in all hepatic forms.For 33 of the patients,the HSD17B13 genotype was evaluated.The overall HSD17B13:TA allele frequency was 24.24%.Its frequency was higher in patients with less severe liver disease(26.92%)than those with ALF and hemolytic anemia(14.28%).CONCLUSION It remains challenging to prove a genotype-phenotype correlation in WD patients.In children with ALF and hemolytic anemia,the missense variants other than p.His1069Gln(c.3207A>G)and frame-shift variants were the most frequently present in homozygous status or compound heterozygous status with site splice variants.As genetic analysis is usually time-consuming and the results are late,the importance at the onset of the ALF is questionable.If variants proved to be associated with severe forms are found in the pre-symptomatic phase of the disease,this could be essential to predict a possible severe evolution.
基金This work was supported by National Key R&D Program of China(2017YFC1308100)Beijing Municipal Science&Technology Commission(Z201100005520001).
文摘Background Prenatal diagnosis and planned peripartum care is an unexplored concept in China.This study aimed to evaluate the effects of the“prenatal diagnosis and postnatal treatment integrated model”for newborns with critical congenital heart disease.Methods The medical records of neonates(≤28 days)admitted to Fuwai Hospital were reviewed retrospectively from January 2019 to December 2020.The patients were divided into“prenatal diagnosis and postnatal treatment integrated group”(n=47)and“non-integrated group”(n=69).Results The age of admission to the hospital and the age at surgery were earlier in the integrated group than in the non-integrated group(5.2±7.2 days vs.11.8±8.0 days,P<0.001;11.9±7.0 days vs.16.5±7.7 days,P=0.001,respectively).The weight at surgery also was lower in the integrated group than in the non-integrated group(3.3±0.4 kg vs.3.6±0.6 kg,P=0.010).Longer postoperative recovery time was needed in the integrated group,with a median mechanical ventilation time of 97 h(interquartile range 51–259 h)vs.69 h(29–168 h)(P=0.030)and with intensive care unit time of 13.0 days(8.0–21.0 days)vs.9.0 days(4.5–16.0 days)(P=0.048).No significant difference was observed in the all-cause mortality(2.1 vs.8.7%,P=0.238),but it was significantly lower in the integrated group for transposition of the great arteries(0 vs.18.8%,log rank P=0.032).Conclusions The prenatal diagnosis and postnatal treatment integrated model could significantly shorten the diagnosis and hospitalization interval of newborns,and surgical intervention could be performed with a lower risk of death,especially for transposition of the great arteries.
文摘目的探讨单核细胞单层实验(monocyte monolayer assay,MMA)是否能够用于IgG抗-M相关胎儿新生儿溶血病(hemolytic disease of fetus and newborn,HDFN)的预测。方法选取8例含有IgG抗-M的孕妇并采集血浆标本,其中有胎儿水肿等严重临床症状及无明显临床症状的各4例;8份血浆用二硫苏糖醇(dithiothreitol,DTT)灭活,与M抗原阳性红细胞孵育致敏后,将致敏红细胞与单核细胞混合进行吞噬试验,同时设立阳性及阴性对照,并计算吞噬率;采用t检验对2组吞噬率进行比较。结果4例发生严重抗-M相关HDFN的孕妇的MMA吞噬率分别为15.37%、13.05%、9.17%和24.50%,均值为15.52%;检出IgG抗-M但未发生HDFN的孕妇,其MMA吞噬率分别为8.74%、11.07%、5.12%和6.23%,均值为7.79%,2组吞噬率无差异(P>0.05)。2组吞噬率分别与阴性对照比较均无差异(P>0.05),但均明显低于阳性对照(P<0.05)。结论IgG抗-M介导单核细胞吞噬的能力较低,提示抗-M导致胎儿水肿的机制可能并非红细胞被吞噬破坏而发生的溶血,因此体外单核细胞单层实验可能不适用于IgG抗-M相关HDFN的预测。对于检出IgG抗-M的孕妇,现仍需通过定期监测胎儿大脑中动脉血流,来判断胎儿宫内贫血情况。