Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

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.

Effect of ursodeoxycholic acid combined with bifidobacterium quadruple preparations on myocardial enzyme, immune function and inflammatory response of hyperbilirubinemia neonatal

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.

Clinical features and genetic variations of severe neonatal hyperbilirubinemia:Five case reports

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.

Semi-Quantitative Analysis of Brain MR Imaging in 76 Cases of Neonatal Indirect Hyperbilirubinemia

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.

Characteristics of brainstem auditory evoked potential of neonates with mild or moderate hyperbilirubinemia

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.

Conjugated hyperbilirubinemia presenting in first fourteen days in term neonates

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.

Clinical effects of phototherapy combined with albumin administration on hyperbilirubinemia in newborns

Objective To investigate the effects of phototherapy combined with albumin administration on hyperbilirubinemia in newborns. Methods Totally 64 newborns with neonatal hyperbilirubinemia were randomly divided into the control group and the study group,with 32 cases in each group. The newborns in control group received phototherapy and routine care,while those in study group were administrated with intravenous injection of albumin in addition to phototherapy and routine care. The concentration of total serum bilirubin,newborns' body weight and amount of milk intake were measured before and after phototherapy. Results There was a significant difference in the milk intake between two groups after phototherapy( P < 0. 05). There was no significant difference in the body weight or total serum bilirubin level of newborns between two groups after phototherapy( P > 0. 05). Conclusion Combined application of phothotherapy and albumin administration on neonatal hyperbilirubinemia could promote the newborns' appetite and improve the recovery of the neonates,but the effect on reducing blood bilirubin level and weight gain needs further study.

Unique presentation of neonatal liver failure:A case report

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.

Causes of severe neonatal hyperbilirubinemia: a multicenter study of three regions in China

Background Available evidence suggests that our country bear great burden of severe hyperbilirubinemia.However,the causes have not been explored recently in different regions of China to guide necessary clinical and public health interventions.Methods This was a prospective,observational study conducted from March 1,2018,to February 28,2019.Four hospitals in three regions of China participated in the survey.Data from infants with a gestational age≥35 weeks,birth weight>2000 g,and total serum bilirubin(TSB)level≥17 mg/dL(342μmol/L)were prospectively collected.Results A total of 783 cases were reported.Causes were identified in 259 cases.The major causes were ABO incompatibility(n=101),glucose-6-phosphate dehydrogenase deficiency(n=76),and intracranial hemorrhage(n=70).All infants with glucose-6-phosphate dehydrogenase deficiency were from the central south region.Those from the central south region had much higher peak total bilirubin levels[mean,404μmol/L;standard deviation(SD),75μmol/L]than those from the other regions(mean,373μmol/L;SD,35μmol/L)(P<0.001).Conclusions ABO incompatibility was the leading cause in the east and northwest regions,but cases in the central south region were mainly caused by both ABO incompatibility and glucose-6-phosphate dehydrogenase deficiency,and infants in this region had a much higher peak total bilirubin level.Intracranial hemorrhage may be another common cause.More thorough assessments and rigorous bilirubin follow-up strategies are needed in the central south region.

Incidence and risk factors of post-phototherapy neonatal rebound hyperbilirubinemia

Background To determine the incidence and risk factors of post-phototherapy rebound hyperbilirubinemia because data about bilirubin rebound in neonates are lacking and few studies have concerned this condition. Methods A prospective observational study was conducted on 500 neonates with indirect hyperbilirubinemia who were treated according to standard guidelines. Total serum bilirubin (TSB) was measured at 24–36 h after phototherapy;significant bilirubin rebound (SBR) is considered as increasing TSB that needs reinstitution of phototherapy. Results A total of 124 (24.9%) neonates developed SBR with TSB increased by 3.4 (2.4–11.2) mg/dL after stopping pho-totherapy. Multiple logistic regression model revealed the following significant risk factors for rebound: low birth weight (B = 1.3,P < 0.001, OR 3.5), suspected sepsis (B = 2.5,P < 0.001, OR 12.6), exposure to intensive phototherapy (B = 0.83, P= 0.03, OR 2.3), hemolysis (B = 1.2,P < 0.001, OR 3.1), high discharge bilirubin level (B = 0.3,P = 0.001, OR 1.3), and short duration of conventional phototherapy (B = ? 1.2,P < 0.001, OR 0.3). Conclusions SBR should be considered in neonates with hemolysis, low birth weight, suspected sepsis, short duration of conventional phototherapy, exposure to intensive phototherapy, and relatively high discharge TSB. These risk factors should be taken into account when planning post-phototherapy follow-up.

Intensive phototherapy vs.exchange transfusion for the treatment of neonatal hyperbilirubinemia:a multicenter retrospective cohort study

Background:Intensive phototherapy(IPT)and exchange transfusion(ET)are the main treatments for extreme hyperbilirubinemia.However,there is no reliable evidence on determining the thresholds for these treatments.This multicenter study compared the effectiveness and complications of IPT and ET in the treatment of extreme hyperbilirubinemia.Methods:This retrospective cohort study was conducted in seven centers from January 2015 to January 2018.Patients with extreme hyperbilirubinemia that met the criteria of ET were included.Patients were divided into three subgroups(low-,medium-,and high-risk)according to gestational week and risk factors.Propensity score matching(PSM)was performed to balance the data before treatment.Study outcomes included the development of bilirubin encephalopathy,duration of hospitalization,expenses,and complications.Mortality,auditory complications,seizures,enamel dysplasia,ocular motility disorders,athetosis,motor,and language development were evaluated during follow-up at age of 3 years.Results:A total of 1164 patients were included in this study.After PSM,296 patients in the IPT only group and 296 patients in the IPT plus ET group were further divided into the low-,medium-,and high-risk subgroups with 188,364,and 40 matched patients,respectively.No significant differences were found between the IPT only and IPT plus ET groups in terms of morbidity,complications,and sequelae.Hospitalization duration and expenses were lower in the low-and medium-risk subgroups in the IPT only group.Conclusions:In this study,our results suggest that IPT is a safe and effective treatment for extreme hyperbilirubinemia.The indication of ET for patients with hyperbilirubinemia could be stricter.However,it is necessary to have a contingency plan for emergency ET as soon as IPT is commenced especially for infants with risk factors.If IPT can be guaranteed and proved to be therapeutic,ET should be avoided as much as possible.

Hyperthyroxinemia at birth: a cause of idiopathic neonatal hyperbilirubinemia?

Background Some neonates develop idiopathic hyperbilirubinemia (INHB) requiring phototherapy, yet with no identifi able causes. We searched for an association between abnormal thyroid levels after birth and INHB. Methods Of 5188 neonates, 1681 (32.4%) were excluded due to one or more risk factors for hyperbilirubinemia. Total thyroxine (TT4) and thyroid stimulating hormone values were sampled routinely at 40-48 hours of age and measured in the National Newborn Screening Program. Results Of the 3507 neonates without known causes for hyperbilirubinemia, 61 (1.7%) developed INHB and received phototherapy. Univariate analyses found no signifi cant association between mode of delivery and INHB (vacuum-delivered neonates were a priori excluded). Nonetheless, in cesarean-delivered (CD) neonates, two variables had signifi cant asso-ciation with INHB: TT4 ≥ 13 μg/dL and birth at 38-38.6 weeks. In vaginally delivered (VD) born neonates, INHB was associated with weight loss > 7.5% up to 48 hours of age. Multivariate logistic regression analysis showed a strong eff ect of mode of delivery on possible signifi cant association with INHB. In CD neonates, such variables included: TT4 ≥ 13 μg/dL [P = 0.025, odds ratio (OR) 5.49, 95% confi dence interval (CI) 1.23-24.4] and birth at 38-38.6 weeks (P = 0.023, OR 3.44, 95% CI 1.19-9.97). In VD neonates, weight loss > 7.5% (P = 0.019, OR 2.1, 95% CI 1.13-3.83) and 1-min Apgar score < 9 (P < 0.001, OR 3.8, 95% CI 1.83-7.9), but not TT4, showed such an association. Conclusions INHB was signifi cantly associated with birth on 38-38.6 week and TT4 (≥ 13 μg/dL) in CD neonates, and with a weight loss > 7.5% in VD neonates. We herein highlight some acknowledged risk factors for neonatal hyperbilirubinemia, and thus minimize the rate of INHB.

Neonatal Bilirubin Encephalopathy: Study of 30 Cases at Albert Royer National Children Hospital of Dakar

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.

The Effect of Pomegranate Paste on Neonatal Jaundice Incidence: A Clinical Trial in Women during Pregnancy

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.

Sixth hour transcutaneous bilirubin predicting significant hyperbilirubinemia in ABO incompatible neonates

Background:Neonates with ABO hemolytic disease are at greater risk for developing significant hyperbilirubinemia.We aimed to determine whether sixth hour transcutaneous bilirubin(TcB)could predict such a risk.Methods:TcB measurements were obtained at the 6th hour of life in blood group A or B neonates born to blood group O,rhesus factor compatible mothers.Subsequent hyperbilirubinemia was monitored and considered significant if a neonate required phototherapy/exchange transfusion.The predictive role of sixth hour TcB was estimated.Results:Of 144 ABO incompatible neonates,41(OA,24;O-B,17)had significant hyperbilirubinemia.Mean sixth hour TcB was significantly higher among neonates who developed significant hyperbilirubinemia than those who did not(5.83±1.35 mg/dL vs.3.65±0.96 mg/dL,P<0.001).Sixth hour TcB value>4 mg/dL had the highest sensitivity of 93.5%and>6 mg/dL had the highest specifi city of 99%.Area under receiver operating characteristic curve was 0.898.Conclusion:Sixth hour TcB predicts subsequent significant hyperbilirubinemia in ABO incompatible neonates.

Neonatal Graves’ Disease and Cholestatic Jaundice: Case Series and Review of the 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.

Prediction of significant hyperbilirubinemia in term neonates by early non-invasive bilirubin measurement

Background:Neonatal jaundice is a common problem.We evaluated the utility and best cut-off values of 24-and 48-hour transcutaneous bilirubin indices (TcBI) in predicting subsequent significant hyperbilirubinemia and evaluated various associated maternal and fetal risk factors.Methods:TcBI at 24 and 48 hours and serum bilirubin levels at 72 hours of age were obtained for healthy,term,appropriate for gestational age neonates.Neonates with prematurity,birth weight <2500 g,ABO or Rh incompatibility,onset of clinical jaundice <24 hours,clinical suspicion of septicemia,positive pressure ventilation at birth,admission in neonatal intensive care unit and contraindications for BiliChek were excluded.Twently-four and 48-hour TcB indices were assessed as predictors of subsequent hyperbilirubinemia,defined as serum bilirubin >17 mg/dL after 72 hours of life and various cut-offs,and were evaluated by calculating sensitivity,specificity and predictive values.Results:Of 500 newborns,4.6% had significant hyperbilirubinemia,27% had TcBI (mg/dL) <5 at 24 hours,and 27.4% had TeBI <8 at 48 hours.None of them had subsequent hyperbilirubinemia (100% negative predictive value).The percentage of newborns with subsequent hyperbilirubinemia increased from 3.4% to 13.2% as their 24-hour TcBI increased from 6 to above 9 mg/dL and from 4.2% to 7.4% as their 48-hour TcBI increased from 8 to above 11 mg/dL.The best cut-off value was TcBI (mg/dL) 7 (odd ratio=4.86,95% confidence interval:1.66-15.22) at 24 hours and 10 (odd ratio=2.87,95% confidence interval:1.04-8.29) at 48 hours.Area under the receiver operating characteristic curve for 24-and 48-hour measurements was 0.750 and 0.715,respectively.Maternal premature rupture of membranes,deep transverse arrest,post-date pregnancy,and fetal distress were significant risk factors for hyperbilirubinemia.Conclusions:Twenty-four and 48-hour TcB indices are good predictors of subsequent hyperbilirubinemia.Twenty-four-hour TcBI had better predictive ability than 48-hour TcBI.

Incidence and Risk Factors to Neonatal Jaundice in Jalingo, Taraba State

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.

熊去氧胆酸治疗新生儿高胆红素血症的文献分析

目的Meta分析熊去氧胆酸(ursodeoxycholic acid,UDCA)治疗新生儿高胆红素血症的临床疗效。方法在中国知网、万方、维普、Pub Med/MEDLINE及Scopus等中英文数据库中检索,筛选出2010—2023年期间有关UDCA用于高胆红素血症新生儿治疗的随机对照试验,对文献质量评价,提取相关文献研究资料,采用Review Manager 5.4统计软件对筛选出的文献进行Meta分析,以探讨UDCA联合蓝光治疗新生儿高胆红素血症的临床疗效。结果筛出符合研究的6篇随机临床试验文献,包括1篇中文与5篇英文文献。文献中的对照组新生儿总计371例,均行蓝光照射疗法;试验组总计439例,均行UDCA+蓝光照射疗法。文献的I2值均>50%且P值均<0.10时,表示存在异质性,采用随机效应模型;经Meta分析,试验组新生儿在治疗后不同时间段的总胆红素水平均明显低于对照组(P<0.05);且试验组光疗持续时间也明显短于对照组(MD=-19.15,95%CI:-20.80~-17.50,P<0.01)。结论相较于传统的蓝光疗法,联合UDCA治疗能进一步促进高胆红素血症患儿的胆红素水平下降,缩短光疗时间。

茵栀黄颗粒与双歧杆菌四联活菌片联用对新生儿高胆红素血症的治疗效果

目的探讨茵栀黄颗粒联合双歧杆菌四联活菌片对新生儿高胆红素血症的治疗效果。方法选取120例高胆红素血症新生儿随机分为参照组(n=60)和联合组(n=60)。参照组仅接受蓝光照射治疗,联合组在参照组基础上采用茵栀黄颗粒联合双歧杆菌四联活菌片治疗,均持续治疗5 d。比较两组的临床疗效、血胆红素水平、黄疸消退时间及不良反应。结果联合组治疗总有效率为95.00%,高于参照组的83.33%(P<0.05)。治疗5 d后,联合组血清总胆红素、结合胆红素水平低于参照组,黄疸消退时间短于参照组(P<0.05)。两组的不良反应发生率比较无统计学差异(P>0.05)。结论茵栀黄颗粒与双歧杆菌四联活菌片联用治疗新生儿高胆红素血症效果显著,可明显降低患儿的血胆红素水平,加快黄疸消退且安全性较高。