BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation wit...BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.展开更多
BACKGROUND Acute fulminant liver failure rarely occurs in the neonatal period.The etiologies include viral infection(15%),metabolic/genetic disease(10%),hematologic disorders(15%),and ischemic injury(5%).Gestational a...BACKGROUND Acute fulminant liver failure rarely occurs in the neonatal period.The etiologies include viral infection(15%),metabolic/genetic disease(10%),hematologic disorders(15%),and ischemic injury(5%).Gestational alloimmune liver disease usually manifests as severe neonatal liver failure,with extensive hepatic and extrahepatic iron overload,sparing the reticuloendothelial system.Empty liver failure is a rare cause of liver failure where a patient presents with liver failure in the neonatal period with no hepatocytes in liver biopsy.CASE SUMMARY A 5-week-old male presented with jaundice.Physical examination revealed an alert but deeply icteric infant.Laboratory data demonstrated direct hyperbilirubinemia,a severely deranged coagulation profile,normal transaminase,and normal ammonia.Magnetic resonance imaging of the abdomen was suggestive of perinatal hemochromatosis.Liver biopsy showed histiocytic infiltration with an absence of hepatocytes.No hemosiderin deposition was identified in a buccal mucosa biopsy.CONCLUSION Neonatal liver failure in the absence of hepatocellular regeneration potentially reflects an acquired or inborn defect in the regulation of hepatic regeneration.展开更多
BACKGROUND Neonatal hyperbilirubinemia is a common problem faced by pediatricians.The role of genetic factors in neonatal jaundice has been gradually recognized.This study aims to identify genetic variants that influe...BACKGROUND Neonatal hyperbilirubinemia is a common problem faced by pediatricians.The role of genetic factors in neonatal jaundice has been gradually recognized.This study aims to identify genetic variants that influence the bilirubin level in five patients using next-generation sequencing(NGS).CASE SUMMARY Five neonates with severe hyperbilirubinemia were retrospectively studied.They exhibited bilirubin encephalopathy,hypothyroidism,ABO blood type incompatibility hemolysis,glucose-6-phosphate dehydrogenase(G6PD)deficiency and premature birth,respectively.A customized 22-gene panel was designed,and NGS was carried out for these neonates.Eight variations(G6PD c.G1388A,HBA2 c.C369G,ABCC2 c.C3825G,UGT1A1 c.G211A,SPTB c.A1729G,EPB41 c.G520A,c.1213-4T>G and c.A1474G)were identified in these five neonates.Genetic mutations of these genes are associated with G6PD deficiency,thalassemia,Dubin-Johnson syndrome,Gilbert syndrome,hereditary spherocytosis,and hereditary elliptocytosis.One of the neonates was found to have compound variants of the EPB41 splice site c.1213-4T>G and c.G520A(p.E174K),but no elliptocyte was seen on his blood smear of 4 years old.CONCLUSION Pathological factors of severe neonatal hyperbilirubinemia are complicated.Genetic variants may play an important role in an increased risk of neonatal hyperbilirubinemia,and severe jaundice in neonates may be related to a cumulative effect of genetic variants.展开更多
Background: Neonatal hyperbilirubinemia is indeed common. However, severe nerve injuries and bilirubin encephalopathy are rare and only occur in the unusual cases of extreme hyperbilirubinemia. Objectives: To investig...Background: Neonatal hyperbilirubinemia is indeed common. However, severe nerve injuries and bilirubin encephalopathy are rare and only occur in the unusual cases of extreme hyperbilirubinemia. Objectives: To investigate brain magnetic resonance imaging (MRI) changes and their correlations with perinatal predisposing factors in neonates with indirect hyperbilirubinemia, via regions of interest (ROIs) analysis. Methods: Seventy-six neonates with a gestational age of ≥35 weeks diagnosed with neonatal indirect hyperbilirubinemia or bilirubin encephalopathy all underwent brain MRI during hospitalization. Depending on peak total serum bilirubin (TSB), they were assigned to group A (<221 μmol/L), B (≥221 μmol/L μmol/L), C (≥42 μmol/L μmol/L), or D (≥428 μmol/L). The globus pallidus and the white matter around the anterior horn of the lateral ventricle and posterior horn of the lateral ventricle were selected as the ROIs. Average optical densities (AODs) of the ROIs and the cerebrospinal fluid region were measured. The ratio between the AODs was designated as the relative optical density (ROD), and used to determine relative signal intensity. Results: RODs of the globus pallidus were significantly lower in group D than in all other groups. TSB and the ratio of TSB to serum albumin concentration (B/A) was significantly negatively correlated with ROD in theglobus pallidus. Corrected age was significantly negatively correlated with the ROD of the ROIs. Conclusions: Semi-quantitative image analysis is a feasible method to assess conventional brain MRI for neonatal indirect hyperbilirubinemia. The signal intensity of the globus pallidus in T1-weighted images was significantly correlated with TSB level and B/A.展开更多
Objective: To investigate the effects of myocardial enzyme, immune function and inflammatory response by ursodeoxycholic acid combined with bifidobacterium quadruple preparations on hyperbilirubinemia neonatal. Method...Objective: To investigate the effects of myocardial enzyme, immune function and inflammatory response by ursodeoxycholic acid combined with bifidobacterium quadruple preparations on hyperbilirubinemia neonatal. Methods: A total of 100 cases of neonatal hyperbilirubinemia in our hospital from June 2016 to May-2017 were selected and divided into control group and observation group by random number table, 50 cases in each group. Two groups of neonatal were given routine symptomatic treatment. The control group was treated with ursodeoxycholic acid and the observation group was treated with Bifidobacterium tetralogy of live bacteria on the basis of the control group. The two groups of neonatal were both treated for 7 d. The serum levels of CK-MB, CK, LDH, AST, CD3+, CD4+, CD4+/CD8+, CD8+, CRP and TNF-α were measured before and after the treatment of the two groups. Results: Before treatment, there was no significant difference in serum CK-MB, CK, LDH, AST, CD3+, CD4+, CD4+/CD8+, CD8+, CRP and TNF-α levels between the 2 groups. After treatment: 2 groups of serum CK-MB, CK, LDH, AST, CD8+, CRP, TNF-α levels significantly decreased compared with the group before treatment, CD3+, CD4+ and CD4+/CD8+ levels were significantly increased after treatment, and the observation group with serum CK-MB, CK, LDH, AST, CD8 +, CRP, TNF-α levels were significantly lower than the control group, CD3+, CD4+ and CD4+/CD8+ levels were significantly higher than the control group, the differences were statistically significant. Conclusion: Ursodeoxycholic acid combined with Bifidobacterium quadruple viable tablets can can reduce the activity of myocardial enzyme, improve the state of spectrum index of neonatal hyperbilirubinemia.展开更多
AIM To describe the etiology and characteristics of earlyonset conjugated hyperbilirubinemia(ECHB) presenting within 14 d of life in term neonates.METHODS Retrospective review was performed of term infants up to 28-d-...AIM To describe the etiology and characteristics of earlyonset conjugated hyperbilirubinemia(ECHB) presenting within 14 d of life in term neonates.METHODS Retrospective review was performed of term infants up to 28-d-old who presented with conjugated hyperbilirubinemia(CHB) at a tertiary center over a 5-year period from January 2010 to December 2014. CHB is defined as conjugated bilirubin(CB) fraction greater than 15% of total bilirubin and CB greater or equal to 25 μmol/L. ECHB is defined as CHB detected within 14 d of life. "Late-onset" CHB(LCHB) is detected at 15-28 d of life and served as the comparison group.RESULTS Total of 117 patients were recruited: 65 had ECHB, 52had LCHB. Neonates with ECHB were more likely to be clinically unwell(80.0% vs 42.3%, P < 0.001) and associated with non-hepatic causes(73.8% vs 44.2%, P = 0.001) compared to LCHB. Multifactorial liver injury(75.0%) and sepsis(17.3%) were the most common causes of ECHB in clinically unwell infants, majority(87.5%) had resolution of CHB with no progression to chronic liver disease. Inborn errors of metabolism were rare(5.8%) but associated with high mortality(100%) in our series. In the subgroup of clinically well infants(n = 13) with ECHB, biliary atresia(BA) was the most common diagnosis(61.5%), all presented initially with normal stools and decline in total bilirubin but with persistent CHB. CONCLUSION Secondary hepatic injury is the most common reason for ECHB. BA presents with ECHB in well infants without classical symptoms of pale stools and deep jaundice.展开更多
Introduction: Unconjugated bilirubin jaundice is a common symptom in neonatal period. In some babies, excessive serum bilirubin concentrations can place them at risk of acute bilirubin encephalopathy (BE) when the unc...Introduction: Unconjugated bilirubin jaundice is a common symptom in neonatal period. In some babies, excessive serum bilirubin concentrations can place them at risk of acute bilirubin encephalopathy (BE) when the unconjugated pigment crosses the blood-brain barrier. Our study aimed to describe epidemiology, diagnosis and prognosis of BE at the Neonatology Department of Albert Royer Children’s Hospital of Dakar. Materials and Methods: It was a retrospective, descriptive study of cases of BE from January 1, 2015 to June 30, 2019. Obstetric and perinatal data as well as postnatal jaundice data (onset time, associated signs, signs of encephalopathy, treatment and evolution) were collected and analyzed by SPSS software version 2.0. Almost all newborns (27 cases;90%) were exclusively breastfed. At admission, all children exhibited blunt jaundice and signs of encephalopathy dominated by the abolition of archaic reflexes (76.7%), low suction (22 cases;73.3%), central apnea (12 cases, 40%). The mean serum bilirubinemia was 322 mg/litre. Neonatal infection (10 cases;33.3%) and fetal-maternal incompatibility (16 cases;53.3%) were the main causes. All children received intensive phototherapy and exsanguino transfusion was performed for 7 newborns (23.3%). Nine children died (30% mortality rate). Conclusion: Only better organisation of perinatal care with enhanced postnatal follow-up can reduce the incidence of EB.展开更多
BACKGROUND: Brainstem auditory evoked potential (BAEP) has been widely used to evaluate the functional integrity and development of injured auditory system and brain, especially to objectively evaluate the function...BACKGROUND: Brainstem auditory evoked potential (BAEP) has been widely used to evaluate the functional integrity and development of injured auditory system and brain, especially to objectively evaluate the function of auditory system and brain stem of very young babies, such as neonates and sick babies. OBJECTIVE: To observe the changes of BAEP of neonates with hyperbilirubinemia, and to investigate the relationship of bilirubin concentration and BAEP. DESIGN: An observation experiment. SETTING: Department of Pediatrics, the 309 Clinical Division, General Hospital of Chinese PLA. PARTICIPANTS: Fifty-eight neonates with mild or moderate hyperbilirubinemia exhibiting jaundice within 24 hours after born, who received the treatment in the Department of Pediatrics, the 309 Clinical Division, General Hospital of Chinese PLA between January 2004 and May 2007, were recruited in this study. The involved neonates, 31 boys and 27 girls, had gestational age of 37 to 46 weeks. They had no history of birth asphyxia, and were scored 8 to 10 points when born. Written informed consents of examination and treatment were obtained from the guardians of the neonates. This study was approved by the Hospital Ethics Committee. According to serum total bilirubin value, the neonates were assigned into 3 groups: low-concentration bilirubin group (n =16), moderate-concentration bilirubin group (n =27) and high-concentration bilirubin group (n =15). According to mean daily bilirubin increase, the subjects were sub-assigned into bilirubin rapid increase group (n =39) and bilirubin slow increase group (n = 19). METHODS: After admission, all the neonates received drug treatment. Meanwhile, their 116 ears were examined with a myoelectricity evoked potential equipment (KEYPOINT) in latency, wave duration, amplitude and wave shape differentiation of each wave of BAEP. BAEP abnormal type was observed and abnormal rate of BAEP was calculated. MAIN OUTCOME MEASURES: ①Abnormal rate and abnormal type of BAEP. ② Latency of waves Ⅰ , Ⅲ and Ⅴ, and wave duration of waves Ⅰ to Ⅲ,Ⅲ to Ⅴ, and Ⅰ to Ⅴ. RESULTS: Fifty-eight neonates with mild or moderate hyperbilirubinemia were involved in the final analysis. ①Abnormal type and abnormal rate of BAEP of neonates with hyperbilirubinemia: Among the 116 ears, unilateral or bilateral waves Ⅰ, Ⅲ,Ⅴ still existed. The latency of waves Ⅰ, Ⅲ and Ⅴ was +2.5 s longer than the normal level in 8, 4 and 15 ears, respectively. The wave duration of waves Ⅰ to Ⅲ and waves Ⅲ to Ⅴ was +2.5 s longer than the normal level in 6 and 14 ears, respectively. The wave duration of waves Ⅲ to Ⅴ was longer than that of ipsilateral waves Ⅰ to Ⅲ in 24 ears. The latency difference of wave Ⅴ between two ears was larger than 0.4 ms in 31 neonates with hyperbilirubinemia; The amplitude of wave Ⅴ to that of ipsilateral wave 1 was lower than 0.5 in 29 neonates. Totally 52 ears were abnormal, and the abnormal rate was 44.8%. One to two months later, 98% abnormal neonates with hyperbilirubinemia recovered. The abnormal rate in the low-, moderate-, and high-concentration bilirubin groups was 37.5%, 44.4% and 53.3%, respectively. ② Comparison of latency and wave duration of each wave of BAEP: Latency of waves Ⅰ, Ⅲ and Ⅴ, and wave duration of waves Ⅰ to III and Ⅲ to Ⅴ were gradually prolonged in low-, moderate-, and high-concentration bilirubin groups, but significant difference did not exist between two groups (P 〉 0.05). ③ There were no significant differences in latency of waves Ⅰ, Ⅲand Ⅴ, and wave duration of waves Ⅰ to Ⅲ, Ⅲto Ⅴ and Ⅰ to Ⅴ between bilirubin rapid increase group and bilirubin slow increase group (P 〉 0.05). CONCLUSION: Auditory acuity and brainstem of neonates with mild or moderate hyperbilirubinemia are damaged to some extent. High-concentration bilirubin causes BAEP abnormality easily. Bilirubin increase and its concentration change are not consistent with nervous lesion degree.展开更多
Purpose: Some topics such as women’s life style and nutrition and using some special medicines during pregnancy have been discussed and demonstrated as effective factors on infant’ health. Based on recommendations i...Purpose: Some topics such as women’s life style and nutrition and using some special medicines during pregnancy have been discussed and demonstrated as effective factors on infant’ health. Based on recommendations in Iranian traditional medicine, we aimed to evaluate the efficacy of pomegranate paste consumed by women during their pregnancy on the neonatal jaundice incidence. Methods: In this single-blinded controlled clinical trial, 80 healthy pregnant women were randomly divided into 2 groups, as treatment and control. The treatment group members added pomegranate paste to their daily diet from the 34th week of the pregnancy to birth, as administered. The levels of neonates’ bilirubin were checked in the 5th day of the delivery. Results: Both the need of phototherapy and the mean level of neonates’ bilirubin in the group fed with pomegranate paste were significantly lesser compared to control group. The number of neonates who were undergone phototherapy in the pomegranate paste receiving group was significantly lesser than that in the control group (P value = 0.029). By measuring the total bilirubin, statically significant difference between the treatment group and the control group was seen (P value = 0.021). Conclusion: The results of this study suggest the possible effect of adding pomegranate paste to pregnant women’s diet on the incidence of neonatal jaundice.展开更多
This cross-sectional study was aimed to determine the incidence and the significant risk factors to neonatal jaundice in FMC, Jalingo. Four hundred and thirty three neonates admitted to special baby care unit (SBCU) F...This cross-sectional study was aimed to determine the incidence and the significant risk factors to neonatal jaundice in FMC, Jalingo. Four hundred and thirty three neonates admitted to special baby care unit (SBCU) FMC, Jalingo with their mothers were surveyed. Data were collected through a data extraction format looking on the medical records of the neonates (from 1st January, 2021 to 31st August, 2021) and interviewing the mothers. Data were transferred to an Excel data sheet and results were summarized by frequencies and percentages (categorical variables). Logistic regression analysis was used to determine the strength of the risk factors to neonatal jaundice while the significance was tested at p-value ≤ 0.05. The findings revealed that the incidence of neonatal jaundice in FMC Jalingo was 40.18% while the significant risk factors were age group 41 - 50 years (I = 15.01%, OR: 2.970 at 95% CI: 1.566 - 5.634, p = 0.000), spontaneous vaginal delivery (I = 18.01%, OR: 1.382 at 95% CI: 0.940 - 2.033, p = 0.000), premature rupture of membrane (I = 24.94%, OR at: 2.252 at 95% CI: 1.520 - 3.337, p = 0.000), hypertension in pregnancy (I = 21.02%, OR: 1.831 at 95% CI: 1.240 - 2.703, p = 0.002). Others were breech fetal presentation (I = 23.33%, OR: 2.689 at 95% CI: 1.809 - 3.995, p = 0.000), birth asphyxia (I = 22.40%, OR: 3.469 at 95% CI: 2.3105.210, p = 0.000), significant bruising (I = 22.86%, OR: 1.705 at 95% CI: 1.157 - 2.513, p = 0.007), neonatal sepsis (I = 21.02%, OR: 1.688 at 95% CI: 1.145 - 2.488, p = 0.008) and congenital hemolytic anemia (I = 21.71%, OR: 1.723 at 95% CI: 1.169 - 2.540, p = 0.006). Therefore, the need for all concerned to ensure the incidence is reduced and the risk factors identified early and tackled.展开更多
Cholestatic jaundice and elevated liver enzymes are uncommon, but recognized, manifestations of neonatal thyrotoxicosis. Current guidelines for evaluation of cholestatic jaundice and reviews in Neonatology literature ...Cholestatic jaundice and elevated liver enzymes are uncommon, but recognized, manifestations of neonatal thyrotoxicosis. Current guidelines for evaluation of cholestatic jaundice and reviews in Neonatology literature do not discuss hyperthyroidism in the differential diagnosis of cholestatic jaundice. We report two cases of neonatal thyrotoxicosis secondary to neonatal Graves’ disease that presented with cholestatic jaundice and elevated liver enzymes at birth. Early recognition of thyrotoxicosis as a cause of the hepatic disease in the neonate is crucial to prevent unnecessary diagnostic procedures and to initiate timely treatment.展开更多
目的:对近15年新生儿高胆红素血症的相关研究进行文献计量学及可视化分析,探讨其研究现状和热点前沿,为该领域以后的研究提供一定参考.方法:检索2009年1月至2024年1月收录的新生儿高胆红素血症的相关文献1746篇供本研究分析,以Web of Sc...目的:对近15年新生儿高胆红素血症的相关研究进行文献计量学及可视化分析,探讨其研究现状和热点前沿,为该领域以后的研究提供一定参考.方法:检索2009年1月至2024年1月收录的新生儿高胆红素血症的相关文献1746篇供本研究分析,以Web of Science(WOS)核心合集为文献来源,使用VOSviewer和CiteSpace软件对国家、期刊、关键词等进行分析,并生成图表.结果:分析得出发文量最多的国家是美国,发文量最多且共被引最多的期刊是PEDIATRICS;关键词分析发现光疗、核黄疸、经皮测胆红素、换血疗法等是出现频数较高的关键词.结论:近15年研究热点主要集中于病因、发病机制和治疗等方面,并逐渐细化,推测未来会得到持续关注.展开更多
目的:探究鸢尾素对新生大鼠高胆红素血症细胞凋亡的影响。方法:将96只新生SD大鼠随机分为对照组(N组)和模型组(M组),于7和10日龄腹腔注射胆红素溶液进行造模。造模成功后将M组随机分为T0组、T1组、T2组、T3组。T1、T2、T3组分别侧脑室注...目的:探究鸢尾素对新生大鼠高胆红素血症细胞凋亡的影响。方法:将96只新生SD大鼠随机分为对照组(N组)和模型组(M组),于7和10日龄腹腔注射胆红素溶液进行造模。造模成功后将M组随机分为T0组、T1组、T2组、T3组。T1、T2、T3组分别侧脑室注射40、60和80μg/kg的鸢尾素溶液,余各组注射等量磷酸盐缓冲液溶液。侧脑室注射24h后,神经行为学、苏木精-伊红染色(Hematoxylin-Eosin staining,HE)、原位末端标记法(terminal-deoxynucleoitidyl transferase mediated nick end labeling,Tunel)检测海马区病理改变并统计凋亡率,Western Blot检测海马Bcl-2、Bax和Caspase-3蛋白相对表达量。结果:侧脑室注射鸢尾素后。平面翻正反射:T3组所需时间少于T0、T1、T2组且多于N组(P<0.01);负趋地性反射:T3组所需时间少于T0、T1、T2组(P<0.01,P<0.05)。HE染色:M组海马神经细胞核固缩、裂解,排列紊乱。T1、T2、T3组细胞形态等不同程度改善。Tunel染色:M组Tunel+细胞增多,布满视野;N组Tunel+细胞少,呈零星分布;T3组凋亡率低于T0、T1组(P<0.05)。Western Blot:各组Bcl-2蛋白相对表达量无显著性意义(P>0.05);T0组Bax蛋白高于其余各组(P<0.05),T3组低于T1组(P<0.05);T0组Bcl-2/Bax值低于N、T3组(P<0.05),T1、T2组均低于T3组(P<0.05);T0组Caspase-3蛋白高于其余各组(P<0.05),N组低于T1组(P<0.05),T1组高于T3组(P<0.05)。结论:鸢尾素可能通过减少Bax、Caspase-3蛋白表达,升高Bcl-2/Bax值来减轻神经细胞凋亡且与鸢尾素注射剂量相关。展开更多
基金Supported by The Xiamen Municipal Science and Technology Bureau Project,No.3502Z20209177.
文摘BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.
文摘BACKGROUND Acute fulminant liver failure rarely occurs in the neonatal period.The etiologies include viral infection(15%),metabolic/genetic disease(10%),hematologic disorders(15%),and ischemic injury(5%).Gestational alloimmune liver disease usually manifests as severe neonatal liver failure,with extensive hepatic and extrahepatic iron overload,sparing the reticuloendothelial system.Empty liver failure is a rare cause of liver failure where a patient presents with liver failure in the neonatal period with no hepatocytes in liver biopsy.CASE SUMMARY A 5-week-old male presented with jaundice.Physical examination revealed an alert but deeply icteric infant.Laboratory data demonstrated direct hyperbilirubinemia,a severely deranged coagulation profile,normal transaminase,and normal ammonia.Magnetic resonance imaging of the abdomen was suggestive of perinatal hemochromatosis.Liver biopsy showed histiocytic infiltration with an absence of hepatocytes.No hemosiderin deposition was identified in a buccal mucosa biopsy.CONCLUSION Neonatal liver failure in the absence of hepatocellular regeneration potentially reflects an acquired or inborn defect in the regulation of hepatic regeneration.
文摘BACKGROUND Neonatal hyperbilirubinemia is a common problem faced by pediatricians.The role of genetic factors in neonatal jaundice has been gradually recognized.This study aims to identify genetic variants that influence the bilirubin level in five patients using next-generation sequencing(NGS).CASE SUMMARY Five neonates with severe hyperbilirubinemia were retrospectively studied.They exhibited bilirubin encephalopathy,hypothyroidism,ABO blood type incompatibility hemolysis,glucose-6-phosphate dehydrogenase(G6PD)deficiency and premature birth,respectively.A customized 22-gene panel was designed,and NGS was carried out for these neonates.Eight variations(G6PD c.G1388A,HBA2 c.C369G,ABCC2 c.C3825G,UGT1A1 c.G211A,SPTB c.A1729G,EPB41 c.G520A,c.1213-4T>G and c.A1474G)were identified in these five neonates.Genetic mutations of these genes are associated with G6PD deficiency,thalassemia,Dubin-Johnson syndrome,Gilbert syndrome,hereditary spherocytosis,and hereditary elliptocytosis.One of the neonates was found to have compound variants of the EPB41 splice site c.1213-4T>G and c.G520A(p.E174K),but no elliptocyte was seen on his blood smear of 4 years old.CONCLUSION Pathological factors of severe neonatal hyperbilirubinemia are complicated.Genetic variants may play an important role in an increased risk of neonatal hyperbilirubinemia,and severe jaundice in neonates may be related to a cumulative effect of genetic variants.
文摘Background: Neonatal hyperbilirubinemia is indeed common. However, severe nerve injuries and bilirubin encephalopathy are rare and only occur in the unusual cases of extreme hyperbilirubinemia. Objectives: To investigate brain magnetic resonance imaging (MRI) changes and their correlations with perinatal predisposing factors in neonates with indirect hyperbilirubinemia, via regions of interest (ROIs) analysis. Methods: Seventy-six neonates with a gestational age of ≥35 weeks diagnosed with neonatal indirect hyperbilirubinemia or bilirubin encephalopathy all underwent brain MRI during hospitalization. Depending on peak total serum bilirubin (TSB), they were assigned to group A (<221 μmol/L), B (≥221 μmol/L μmol/L), C (≥42 μmol/L μmol/L), or D (≥428 μmol/L). The globus pallidus and the white matter around the anterior horn of the lateral ventricle and posterior horn of the lateral ventricle were selected as the ROIs. Average optical densities (AODs) of the ROIs and the cerebrospinal fluid region were measured. The ratio between the AODs was designated as the relative optical density (ROD), and used to determine relative signal intensity. Results: RODs of the globus pallidus were significantly lower in group D than in all other groups. TSB and the ratio of TSB to serum albumin concentration (B/A) was significantly negatively correlated with ROD in theglobus pallidus. Corrected age was significantly negatively correlated with the ROD of the ROIs. Conclusions: Semi-quantitative image analysis is a feasible method to assess conventional brain MRI for neonatal indirect hyperbilirubinemia. The signal intensity of the globus pallidus in T1-weighted images was significantly correlated with TSB level and B/A.
基金Guangxi Natural Science Foundation Funding Project(No.2011GXNSFA018285).
文摘Objective: To investigate the effects of myocardial enzyme, immune function and inflammatory response by ursodeoxycholic acid combined with bifidobacterium quadruple preparations on hyperbilirubinemia neonatal. Methods: A total of 100 cases of neonatal hyperbilirubinemia in our hospital from June 2016 to May-2017 were selected and divided into control group and observation group by random number table, 50 cases in each group. Two groups of neonatal were given routine symptomatic treatment. The control group was treated with ursodeoxycholic acid and the observation group was treated with Bifidobacterium tetralogy of live bacteria on the basis of the control group. The two groups of neonatal were both treated for 7 d. The serum levels of CK-MB, CK, LDH, AST, CD3+, CD4+, CD4+/CD8+, CD8+, CRP and TNF-α were measured before and after the treatment of the two groups. Results: Before treatment, there was no significant difference in serum CK-MB, CK, LDH, AST, CD3+, CD4+, CD4+/CD8+, CD8+, CRP and TNF-α levels between the 2 groups. After treatment: 2 groups of serum CK-MB, CK, LDH, AST, CD8+, CRP, TNF-α levels significantly decreased compared with the group before treatment, CD3+, CD4+ and CD4+/CD8+ levels were significantly increased after treatment, and the observation group with serum CK-MB, CK, LDH, AST, CD8 +, CRP, TNF-α levels were significantly lower than the control group, CD3+, CD4+ and CD4+/CD8+ levels were significantly higher than the control group, the differences were statistically significant. Conclusion: Ursodeoxycholic acid combined with Bifidobacterium quadruple viable tablets can can reduce the activity of myocardial enzyme, improve the state of spectrum index of neonatal hyperbilirubinemia.
文摘AIM To describe the etiology and characteristics of earlyonset conjugated hyperbilirubinemia(ECHB) presenting within 14 d of life in term neonates.METHODS Retrospective review was performed of term infants up to 28-d-old who presented with conjugated hyperbilirubinemia(CHB) at a tertiary center over a 5-year period from January 2010 to December 2014. CHB is defined as conjugated bilirubin(CB) fraction greater than 15% of total bilirubin and CB greater or equal to 25 μmol/L. ECHB is defined as CHB detected within 14 d of life. "Late-onset" CHB(LCHB) is detected at 15-28 d of life and served as the comparison group.RESULTS Total of 117 patients were recruited: 65 had ECHB, 52had LCHB. Neonates with ECHB were more likely to be clinically unwell(80.0% vs 42.3%, P < 0.001) and associated with non-hepatic causes(73.8% vs 44.2%, P = 0.001) compared to LCHB. Multifactorial liver injury(75.0%) and sepsis(17.3%) were the most common causes of ECHB in clinically unwell infants, majority(87.5%) had resolution of CHB with no progression to chronic liver disease. Inborn errors of metabolism were rare(5.8%) but associated with high mortality(100%) in our series. In the subgroup of clinically well infants(n = 13) with ECHB, biliary atresia(BA) was the most common diagnosis(61.5%), all presented initially with normal stools and decline in total bilirubin but with persistent CHB. CONCLUSION Secondary hepatic injury is the most common reason for ECHB. BA presents with ECHB in well infants without classical symptoms of pale stools and deep jaundice.
文摘Introduction: Unconjugated bilirubin jaundice is a common symptom in neonatal period. In some babies, excessive serum bilirubin concentrations can place them at risk of acute bilirubin encephalopathy (BE) when the unconjugated pigment crosses the blood-brain barrier. Our study aimed to describe epidemiology, diagnosis and prognosis of BE at the Neonatology Department of Albert Royer Children’s Hospital of Dakar. Materials and Methods: It was a retrospective, descriptive study of cases of BE from January 1, 2015 to June 30, 2019. Obstetric and perinatal data as well as postnatal jaundice data (onset time, associated signs, signs of encephalopathy, treatment and evolution) were collected and analyzed by SPSS software version 2.0. Almost all newborns (27 cases;90%) were exclusively breastfed. At admission, all children exhibited blunt jaundice and signs of encephalopathy dominated by the abolition of archaic reflexes (76.7%), low suction (22 cases;73.3%), central apnea (12 cases, 40%). The mean serum bilirubinemia was 322 mg/litre. Neonatal infection (10 cases;33.3%) and fetal-maternal incompatibility (16 cases;53.3%) were the main causes. All children received intensive phototherapy and exsanguino transfusion was performed for 7 newborns (23.3%). Nine children died (30% mortality rate). Conclusion: Only better organisation of perinatal care with enhanced postnatal follow-up can reduce the incidence of EB.
文摘BACKGROUND: Brainstem auditory evoked potential (BAEP) has been widely used to evaluate the functional integrity and development of injured auditory system and brain, especially to objectively evaluate the function of auditory system and brain stem of very young babies, such as neonates and sick babies. OBJECTIVE: To observe the changes of BAEP of neonates with hyperbilirubinemia, and to investigate the relationship of bilirubin concentration and BAEP. DESIGN: An observation experiment. SETTING: Department of Pediatrics, the 309 Clinical Division, General Hospital of Chinese PLA. PARTICIPANTS: Fifty-eight neonates with mild or moderate hyperbilirubinemia exhibiting jaundice within 24 hours after born, who received the treatment in the Department of Pediatrics, the 309 Clinical Division, General Hospital of Chinese PLA between January 2004 and May 2007, were recruited in this study. The involved neonates, 31 boys and 27 girls, had gestational age of 37 to 46 weeks. They had no history of birth asphyxia, and were scored 8 to 10 points when born. Written informed consents of examination and treatment were obtained from the guardians of the neonates. This study was approved by the Hospital Ethics Committee. According to serum total bilirubin value, the neonates were assigned into 3 groups: low-concentration bilirubin group (n =16), moderate-concentration bilirubin group (n =27) and high-concentration bilirubin group (n =15). According to mean daily bilirubin increase, the subjects were sub-assigned into bilirubin rapid increase group (n =39) and bilirubin slow increase group (n = 19). METHODS: After admission, all the neonates received drug treatment. Meanwhile, their 116 ears were examined with a myoelectricity evoked potential equipment (KEYPOINT) in latency, wave duration, amplitude and wave shape differentiation of each wave of BAEP. BAEP abnormal type was observed and abnormal rate of BAEP was calculated. MAIN OUTCOME MEASURES: ①Abnormal rate and abnormal type of BAEP. ② Latency of waves Ⅰ , Ⅲ and Ⅴ, and wave duration of waves Ⅰ to Ⅲ,Ⅲ to Ⅴ, and Ⅰ to Ⅴ. RESULTS: Fifty-eight neonates with mild or moderate hyperbilirubinemia were involved in the final analysis. ①Abnormal type and abnormal rate of BAEP of neonates with hyperbilirubinemia: Among the 116 ears, unilateral or bilateral waves Ⅰ, Ⅲ,Ⅴ still existed. The latency of waves Ⅰ, Ⅲ and Ⅴ was +2.5 s longer than the normal level in 8, 4 and 15 ears, respectively. The wave duration of waves Ⅰ to Ⅲ and waves Ⅲ to Ⅴ was +2.5 s longer than the normal level in 6 and 14 ears, respectively. The wave duration of waves Ⅲ to Ⅴ was longer than that of ipsilateral waves Ⅰ to Ⅲ in 24 ears. The latency difference of wave Ⅴ between two ears was larger than 0.4 ms in 31 neonates with hyperbilirubinemia; The amplitude of wave Ⅴ to that of ipsilateral wave 1 was lower than 0.5 in 29 neonates. Totally 52 ears were abnormal, and the abnormal rate was 44.8%. One to two months later, 98% abnormal neonates with hyperbilirubinemia recovered. The abnormal rate in the low-, moderate-, and high-concentration bilirubin groups was 37.5%, 44.4% and 53.3%, respectively. ② Comparison of latency and wave duration of each wave of BAEP: Latency of waves Ⅰ, Ⅲ and Ⅴ, and wave duration of waves Ⅰ to III and Ⅲ to Ⅴ were gradually prolonged in low-, moderate-, and high-concentration bilirubin groups, but significant difference did not exist between two groups (P 〉 0.05). ③ There were no significant differences in latency of waves Ⅰ, Ⅲand Ⅴ, and wave duration of waves Ⅰ to Ⅲ, Ⅲto Ⅴ and Ⅰ to Ⅴ between bilirubin rapid increase group and bilirubin slow increase group (P 〉 0.05). CONCLUSION: Auditory acuity and brainstem of neonates with mild or moderate hyperbilirubinemia are damaged to some extent. High-concentration bilirubin causes BAEP abnormality easily. Bilirubin increase and its concentration change are not consistent with nervous lesion degree.
文摘Purpose: Some topics such as women’s life style and nutrition and using some special medicines during pregnancy have been discussed and demonstrated as effective factors on infant’ health. Based on recommendations in Iranian traditional medicine, we aimed to evaluate the efficacy of pomegranate paste consumed by women during their pregnancy on the neonatal jaundice incidence. Methods: In this single-blinded controlled clinical trial, 80 healthy pregnant women were randomly divided into 2 groups, as treatment and control. The treatment group members added pomegranate paste to their daily diet from the 34th week of the pregnancy to birth, as administered. The levels of neonates’ bilirubin were checked in the 5th day of the delivery. Results: Both the need of phototherapy and the mean level of neonates’ bilirubin in the group fed with pomegranate paste were significantly lesser compared to control group. The number of neonates who were undergone phototherapy in the pomegranate paste receiving group was significantly lesser than that in the control group (P value = 0.029). By measuring the total bilirubin, statically significant difference between the treatment group and the control group was seen (P value = 0.021). Conclusion: The results of this study suggest the possible effect of adding pomegranate paste to pregnant women’s diet on the incidence of neonatal jaundice.
文摘This cross-sectional study was aimed to determine the incidence and the significant risk factors to neonatal jaundice in FMC, Jalingo. Four hundred and thirty three neonates admitted to special baby care unit (SBCU) FMC, Jalingo with their mothers were surveyed. Data were collected through a data extraction format looking on the medical records of the neonates (from 1st January, 2021 to 31st August, 2021) and interviewing the mothers. Data were transferred to an Excel data sheet and results were summarized by frequencies and percentages (categorical variables). Logistic regression analysis was used to determine the strength of the risk factors to neonatal jaundice while the significance was tested at p-value ≤ 0.05. The findings revealed that the incidence of neonatal jaundice in FMC Jalingo was 40.18% while the significant risk factors were age group 41 - 50 years (I = 15.01%, OR: 2.970 at 95% CI: 1.566 - 5.634, p = 0.000), spontaneous vaginal delivery (I = 18.01%, OR: 1.382 at 95% CI: 0.940 - 2.033, p = 0.000), premature rupture of membrane (I = 24.94%, OR at: 2.252 at 95% CI: 1.520 - 3.337, p = 0.000), hypertension in pregnancy (I = 21.02%, OR: 1.831 at 95% CI: 1.240 - 2.703, p = 0.002). Others were breech fetal presentation (I = 23.33%, OR: 2.689 at 95% CI: 1.809 - 3.995, p = 0.000), birth asphyxia (I = 22.40%, OR: 3.469 at 95% CI: 2.3105.210, p = 0.000), significant bruising (I = 22.86%, OR: 1.705 at 95% CI: 1.157 - 2.513, p = 0.007), neonatal sepsis (I = 21.02%, OR: 1.688 at 95% CI: 1.145 - 2.488, p = 0.008) and congenital hemolytic anemia (I = 21.71%, OR: 1.723 at 95% CI: 1.169 - 2.540, p = 0.006). Therefore, the need for all concerned to ensure the incidence is reduced and the risk factors identified early and tackled.
文摘Cholestatic jaundice and elevated liver enzymes are uncommon, but recognized, manifestations of neonatal thyrotoxicosis. Current guidelines for evaluation of cholestatic jaundice and reviews in Neonatology literature do not discuss hyperthyroidism in the differential diagnosis of cholestatic jaundice. We report two cases of neonatal thyrotoxicosis secondary to neonatal Graves’ disease that presented with cholestatic jaundice and elevated liver enzymes at birth. Early recognition of thyrotoxicosis as a cause of the hepatic disease in the neonate is crucial to prevent unnecessary diagnostic procedures and to initiate timely treatment.
文摘目的:对近15年新生儿高胆红素血症的相关研究进行文献计量学及可视化分析,探讨其研究现状和热点前沿,为该领域以后的研究提供一定参考.方法:检索2009年1月至2024年1月收录的新生儿高胆红素血症的相关文献1746篇供本研究分析,以Web of Science(WOS)核心合集为文献来源,使用VOSviewer和CiteSpace软件对国家、期刊、关键词等进行分析,并生成图表.结果:分析得出发文量最多的国家是美国,发文量最多且共被引最多的期刊是PEDIATRICS;关键词分析发现光疗、核黄疸、经皮测胆红素、换血疗法等是出现频数较高的关键词.结论:近15年研究热点主要集中于病因、发病机制和治疗等方面,并逐渐细化,推测未来会得到持续关注.
文摘目的:探究鸢尾素对新生大鼠高胆红素血症细胞凋亡的影响。方法:将96只新生SD大鼠随机分为对照组(N组)和模型组(M组),于7和10日龄腹腔注射胆红素溶液进行造模。造模成功后将M组随机分为T0组、T1组、T2组、T3组。T1、T2、T3组分别侧脑室注射40、60和80μg/kg的鸢尾素溶液,余各组注射等量磷酸盐缓冲液溶液。侧脑室注射24h后,神经行为学、苏木精-伊红染色(Hematoxylin-Eosin staining,HE)、原位末端标记法(terminal-deoxynucleoitidyl transferase mediated nick end labeling,Tunel)检测海马区病理改变并统计凋亡率,Western Blot检测海马Bcl-2、Bax和Caspase-3蛋白相对表达量。结果:侧脑室注射鸢尾素后。平面翻正反射:T3组所需时间少于T0、T1、T2组且多于N组(P<0.01);负趋地性反射:T3组所需时间少于T0、T1、T2组(P<0.01,P<0.05)。HE染色:M组海马神经细胞核固缩、裂解,排列紊乱。T1、T2、T3组细胞形态等不同程度改善。Tunel染色:M组Tunel+细胞增多,布满视野;N组Tunel+细胞少,呈零星分布;T3组凋亡率低于T0、T1组(P<0.05)。Western Blot:各组Bcl-2蛋白相对表达量无显著性意义(P>0.05);T0组Bax蛋白高于其余各组(P<0.05),T3组低于T1组(P<0.05);T0组Bcl-2/Bax值低于N、T3组(P<0.05),T1、T2组均低于T3组(P<0.05);T0组Caspase-3蛋白高于其余各组(P<0.05),N组低于T1组(P<0.05),T1组高于T3组(P<0.05)。结论:鸢尾素可能通过减少Bax、Caspase-3蛋白表达,升高Bcl-2/Bax值来减轻神经细胞凋亡且与鸢尾素注射剂量相关。