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.

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.

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.

Facility-based constraints to exchange transfusions for neonatal hyperbilirubinemia in resource-limited settings

Several clinical guidelines for the management of infants with severe neonatal hyperbilirubinemia recommend immediate exchange transfusion(ET) when the risk or presence of acute bilirubin encephalopathy is established in order to prevent chronic bilirubin encephalopathy or kernicterus. However, the literature is sparse concerning the interval between the time the decision for ET is made and the actual initiation of ET, especially in low- and middle-income countries(LMICs) with significant resource constraints but high rates of ET. This paper explores the various stages and potential delays during this interval in complying with the requirement for immediate ET for the affected infants, based on the available evidence from LMICs. The vital role of intensive phototherapy, efficient laboratory and logistical support, and clinical expertise for ET are highlighted. The challenges in securing informed parental consent, especially on religious grounds, and meeting the financial burden of this emergency procedure to facilitate timely ET are examined. Secondary delays arising from posttreatment bilirubin rebound with intensive phototherapy or ET are also discussed. These potential delays can compromise the effectiveness of ET and should provide additional impetus to curtail avoidable ET in LMICs.

Range of Thresholds Used for Treatment of Neonatal Hyperbilirubinemia at Different Gestational Ages across Neonatal Units in Great Britain

Objectives: To review the range of thresholds used for treatment of neonatal jaundice at different gestational ages across neonatal units in Great Britain. To investigate the time at which the threshold values plateau, in terms of hours after birth, for various gestational ages. Methods: We contacted 72 neonatal units in Great Britain and enquired about the unit guidelines for management of neonatal jaundice. We requested a copy of the guidelines and jaundice action charts used. Levels for treatment with phototherapy and exchange transfusion for various times after birth and for different gestational ages were extracted and the data was transferred to an Excel spreadsheet. Identical values were excluded so that there was no duplication of charts. The data was analysed to explore the variation in charts used and the time at which the threshold value reached a plateau was recorded for each chart. Results: Of the 72 units contacted 46 responded with charts. Four neonatal units were using formulas and one hospital was using separate chart for every gestation. The data displayed wide variation in treatment levels (phototherapy and exchange transfusion) at 12 to 168 hours after birth in the three gestational groups studied (28, 32 and 37 weeks). For a term neonate at 72 hours of age the threshold to commence phototherapy varied between 220-370 micromol/l and the exchange transfusion threshold varied between 300-510 micromol/l. A wide variation in practice was seen for all three gestations. The median plateau time was also analysed and for phototherapy this corresponded to 72 hours for all three gestations. For exchange transfusion data the median time of plateau was highest for the term babies (72 hours) and lowest for 32 weeks gestation (48 hours). There was no reference of evidence quoted in the jaundice action charts surveyed. Conclusions: Jaundice action charts reviewed in our study showed significant variation in the threshold for treatment of neonatal jaundice. Both the studied parameters (variation in threshold and the median time to plateau) point towards the fact that the charts being used in the neonatal units are not evidence based and need modification. With the lack of standard treatment guidelines for this common neonatal problem, it is likely that neonatal units are either under or over treating a significant number of babies.

Correlation between UGT1A1 Polymorphism and Neonatal Hyperbilirubinemia of Neonates in Wuhan

This study attempts to discuss the correlation between UGT1A1＊28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71 Arg gene polymorphism with neonatal hyperbilirubinemia of neonates in Wuhan. A total of 168 neonates were divided into the hyperbilirubinemia group（case group, n=108） and healthy neonates group（control group, n=60）. Their DNA was obtained through blood extraction. The gene exon mutation of UGT1A1 was detected by Sanger sequencing, which revealed the relationship between UGT1A1＊28 and Gly71 Arg polymorphism with neonatal hyperbilirubinemia of neonates. The results showed that：（1） The frequency of UGT1A1＊28 allele mutation in the case group and the control group was 9.3% and 10% respectively, with the difference being not significant between the two groups（P〉0.05）.（2） The frequency of Gly71 Arg allele mutation in the case group and the control group was 35.1% and 21.7% respectively, with the difference being significant between the two groups（P〈0.01）.（3） The serum bilirubin level of Gly71 Arg mutant homozygous and heterozygous subgroups（n=66） in the case group was 302.7±31.4 μmol/L, which was significantly higher than 267.3±28.5 μmol/L of the wild subgroup（n=42）（P〈0.01）. It was suggested that the occurrence of neonatal hyperbilirubinemia of neonates in Wuhan was not associated with UGT1A1＊28 gene polymorphism, but closely with the Gly71 Arg gene polymorphism. Meanwhile, the Arg allele mutation was related to the degree of jaundice.

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.

Genetic analysison the association between polymorphisms of UGT1A1and GST and neonatal hyperbilirubinemia

Objective:To investigate whether polymorphisms of uridine diphosphoglucuronate-glucuronosyltransferase 1A1(UGT1A1)c.211G>A and glutathione S transferases(GST)gene(GSTT1and GSTM1)are associated with neonatal hyperbilirubinemia.Methods:A case-control study was performed.A multiplex polymerase chain reaction(PCR)was used to detect the GSTT1and GSTM1polymorphisms.Single nucleotide polymorphism of UGT1A1c.211G>A was identified by PCR combined with DNA sequencing.The effects and co-expression of UGT1A1c.211G>A,GSTT1and GSTM1gene polymorphisms on the development of neonatal hyperbilirubinemia were estimated.Results:A allele frequency of c.211G>A polymorphism of UGT1A1gene was 0.186in case group and 0.086in control group,respectively.A allele frequency of the polymorphism of UGT1A1gene in the case group was higher than that of the control group(χ2=5.968,P=0.022).The frequencies of GSTT1and GSTM1in the case group were similar to that of the control groups.Logistic regression analysis showed that UGT1A1c.211G>A variant and UGT1A1+GSTM1 mutation affected neonatal hyperbilirubinemia.Conclusion:UGT1A1c.211G>A gene polymorphism may be one risk factor involved in the development of neonatal hyperbilirubinemia,and GST gene polymorphism may not be associated with the development of neonatal hyperbilirubinemia in our study.The co-expression of UGT1A1c.211G>A and GSTM1polymorphisms may reduce the risk for neonatal hyperbilirubinemia development.

Astrocyte syncytium:from neonatal genesis to aging degeneration

Modern neuroscience began from all reaching and fierce conflict between“neuronismo and reticulismo”——between neuronal and reticular theories of the organization of the nervous system;the conflict culminated in December of 1906 in Stockholm where Santiago Ramon y Cajal(the proponent of the neuronal doctrine)and Camillo Golgi(who advocated the syncytial reticular organization of neural networks)delivered their Noble prize lectures(Verkhratsky,2009).

Anti-EGFR antibody monotherapy for colorectal cancer with severe hyperbilirubinemia: A case report

BACKGROUND Hyperbilirubinemia with hepatic metastases is a common complication and a poor prognostic factor for colorectal cancer(CRC).Effective drainage is often im-possible before initiating systemic chemotherapy,owing to the liver’s diffuse metastatic involvement.Moreover,an appropriate chemotherapeutic approach for the treatment of hyperbilirubinemia is currently unavailable.CASE SUMMARY The patient,a man in his 50s,presented with progressive fatigue and severe jaundice.Computed tomography revealed multiple hepatic masses with thick-ened walls in the sigmoid colon,which was pathologically confirmed as a well-differentiated adenocarcinoma.No RAS or BRAF mutations were detected.The Eastern Cooperative Oncology Group(ECOG)performance status(PS)score was 2.Biliary drainage was impossible due to the absence of a dilated bile duct,and panitumumab monotherapy was promptly initiated.Subsequently,the bilirubin level decreased and then normalized,and the patient’s PS improved to zero ECOG score after four cycles of therapy without significant adverse events.CONCLUSION Anti-EGFR antibody monotherapy is a safe and effective treatment for RAS wild-type CRC and hepatic metastases with severe hyperbilirubinemia.

Prevalence and Causes of Neonatal Mortality at Chu-Mel, Cotonou in 2023

Introduction: Neonatal mortality represents a global health problem that has been at the core of programs developed by the World Health Organization (WHO) for more than 30 years. In our country, it represents a real scourge and remains high despite the efforts made by the Ministry of Health. The goal of this study was to investigate the prevalence and causes of neonatal mortality at CHU-MEL of Cotonou in 2023. Material and Methods: This was a cross-sectional and descriptive study with retrospective data collection, carried out in the neonatology unit of the Mother and Child Teaching Hospital of Lagune (CHU-MEL) in Cotonou over a period of six months from January 1, 2023 to June 30, 2023. All neonates, premature or full-term, born alive and who died during hospitalization in the unit were included. Results: 211 cases of neonatal deaths were recorded among the 2884 neonates hospitalized in the unit during the study period, representing a hospital prevalence of 7.31%. Early neonatal mortality represented 81.5% of cases. The average age at admission was 4.6 days ± 5.3. The average weight of deceased neonates was 1609.08 ± 798.35 g. The most frequent reasons for hospitalization were represented by prematurity (60.66%) and respiratory distress (23.22%), respectively. Prematurity was the leading cause of neonatal mortality (41.7%), followed by neonatal infections (29.4%) and perinatal asphyxia (10.9%). Conclusion: The prevalence of neonatal mortality in the neonatology unit of CHU-MEL is high. Efforts to improve the quality of perinatal care departments must be intensified to reduce this prevalence.

Factors Associated with Neonatal Sepsis: A Case Study at Chilenje General Hospital in the Neonatal Unit and Paediatric Wards

Background: Neonatal sepsis is known to result in 26% of mortalities in children below the age of five worldwide, countries in Sub-Saharan African recording the highest deaths. Although the deaths of neonates have reduced world over up to 3.6 million counts, Chilenje General Hospital continues to register significant numbers of neonatal sepsis. This study aimed at investigating the factors associated with neonatal sepsis at Chilenje General Hospital in Lusaka, Zambia. Methods: An institution based cross-sectional study design was conducted at Chilenje General Hospital. Data were collected by the use of a researcher designed questionnaire and analysed using SPSS version 25. Frequencies were used for descriptive analysis while bivariate analysis was used to establish association among risk factors and outcome variables. Variables with significant association at 5% level were further subjected to multivariate analysis at α ≤ 0.05. Results: The study showed that out of 156 neonates, 40.4% (63/156) developed neonatal sepsis. Maternal factors that projected the incidence of sepsis amongst neonates were distance to nearest health facility [AOR: 6.3 (95% CI: 1.8 - 21.3), p = 0.003], occupation [AOR: 5.8 (95% CI: 1.2 - 27.6), p = 0.026], number of antenatal visits [AOR: 6.3 (95% CI: 1.9 - 21.6), p = 0.003], number of vaginal examinations [AOR: 10.8 (95% CI: 2.8 - 42), p = 0.001], and pregnancy induced hypertension [AOR: 5.4 (95% CI: 1.4 - 20), p = 0.013]. Neonatal risk factor which projected the incidence of sepsis was Neonate’s age [AOR: 18.8 (95% CI: 4.9 - 72.5), p = 0.000]. Conclusions: The chance of developing neonatal sepsis was strongly correlated with both mother and child variables, according to the study. In order to lower the chance of the neonate acquiring sepsis, encouraging maternal antenatal care use would assist to detect risk factors during prenatal, perinatal and postnatal care and apply the proper therapies.

Epidemiological Aspects of Stillbirth and Neonatal Deaths in the Delivery Room at the Libreville Mother-Child University Hospital from 2019 to 2022

Introduction: Stillbirths are estimated at 2 million each year, of which more than 40% occur during labour. Our objective was to study the epidemiological aspects of stillbirth and neonatal deaths in the delivery room in our health facility. Patients and methods: Prospective, descriptive and analytical study, conducted at the Jeanne Ebori Foundation Mother-Child University Hospital over 4 years (January 2019-December 2022). All neonatal deaths in the delivery room or foetal death in utero, were included. Results: Among the 18,346 deliveries performed, 512 newborns were declared dead in the delivery room (27.9‰ live births), divided into in utero foetal death (19.0‰) and immediate neonatal death (8.9‰). The mean age was 34.3 weeks of amenorrhea. The rate of preterm birth was 60.4%. The sex ratio was 1.1. The average weight was 2186.6. The main causes were vascular (46.1%), foetal (20.2%), adnexal (17.1%) and asphyxia per partum (16.6%). Foetal causes were more likely to result in IUFD than other causes (OR = 6.4 [2.4 - 15.7], p < 0.001). After birth, partum asphyxia was more likely to lead to death before 15 minutes of life than other causes (OR = 11 [6.1 - 18.9], p Conclusion: The causes of stillbirth and early neonatal mortality are dominated by maternal vascular pathologies. However, the proportion of childbirth-related causes remains worrying. Better monitoring of pregnancy and labour will minimize this prevalence in our hospital.

The Diagnostic Validity of Preterm Delivery in Adolescent Girls Based on Neonatal Clinical Assessment

Introduction: Pregnant adolescents are at an elevated risk of premature delivery. In the context of low levels of education and limited resources, several difficulties are encountered in determining gestational age. These include a lack of knowledge of the date of the last menstrual period, failure to perform first-trimester ultrasound, and absence of an electroencephalogram. In such circumstances, the utilisation of a morphological score, analogous to the Finnstrom score, to ascertain gestational age would appear to be a more accessible and straightforward approach. This study aimed to assess the accuracy of the Finnström score in newborns of teenage mothers, where the date of the last menstrual period may be subject to inaccuracy, in order to validate the diagnosis of preterm delivery. Methods: This was an analytical cross-sectional design of 87 newborns of teenage mothers, multicenter, conducted in the city of Kisangani, Democratic Republic of the Congo (DRC) with prospective data collection. Results: This study involved 87 newborns born to adolescent mothers. The incidence of premature delivery, as determined by the date of the last menstrual period, was observed to be 17.6% among teenage girls and 5.3% among adults. As indicated by the Finnström morphological score and early ultrasound dating, the incidence of preterm delivery was notably elevated, at 32.2% and 37.7%, respectively. The correlation between gestational age according to the date of the last menstrual period and gestational age according to early ultrasound dating was low (0.338), while there was a satisfactory correlation between gestational age according to the Finnström morphological score and early ultrasound dating (0.828). Conclusion: The Finnström morphological score represents a valuable tool for accurately determining gestational age, thereby validating the diagnosis of preterm delivery in adolescents, who are prone to inaccuracies in determining the date of the last menstrual period. It is therefore recommended that this score be evaluated in our setting, where access to ultrasound is sometimes still problematic.

Risk Factors for Neonatal Mortality at the Institute of Nutrition and Child Health of the Donka/Guinea-Conakry National Hospital

Introduction: The birth of a baby is a moment of joy and celebration. However, the neonatal period is a very delicate phase of life. Neonatal mortality rates remain high in low-income countries. In Guinea, after 20 years, this rate has fallen from 34.2% in 1998 to 32% in 2018. Objective: To identify the main risk factors for neonatal mortality. Methods: This was an observational, analytical case-control study, lasting 6 months from January 1 to June 30, 2019, conducted at the Institut de Nutrition et de la Santé de l’Enfant (INSE) at Donka National Hospital. Results: We collected 242 cases and 242 controls, i.e. a total of 484 records. 748 patients were registered, with 32.35% deaths. 82.86% of deaths occurred in the early neonatal period. Statistical analysis revealed the main risk factors: prematurity (RQ 7.39 95% CI 3.27 - 16.61 p = 0.0000003), hypothermia (RQ 2.29 95% CI 1.51 - 3.46 p = 0.0001), acute fetal distress (RQ 2.13 95% CI 1.33 - 3.43 p = 0.0016), low birth weight (QR 1.91 95% CI 1.12 - 3.24 p = 0.016), home birth (QR 3.26 95% CI 1.25 - 8.46 p = 0.015). Conclusion: Neonatal mortality is a health problem in the INSE neonatology department. To reduce the mortality rate in this referral facility, it is essential to equip it and provide ongoing training for staff.

Comparative Study of Early Neonatal Complications between the First and Second Twin during Twin Vaginal Deliveries at the Yaounde Gynaeco-Obstetric and Pediatric Hospital, and the Yaounde Central Hospital

Introduction: Twin birth is the expulsion of two fetuses and their appendages out of the woman’s reproductive tract. It’s a high-risk delivery because of the high frequency of maternal, fetal and neonatal complications. Few studies exist on the comparative prognoses of twins. Our objective was to compare early neonatal complications in first and second twins. Methods: We carried out a cross-sectional prospective study from January 2 to April 30, 2020 (4 months) at the Yaounde Gynaeco-Obstetric and Pediatric Hospital, and the Yaounde Central Hospital. Data collected were analyzed using IBM SPSS version 23. Descriptive statistics were done in frequencies and percentages, means and standard deviations. Paired-sample student's t-test were used to compare means. McNemar’s Chi-square and Ficher’s exact tests were used to compare proportions. Statistical significance was set at p-values less than 0.05. Results: Of a total of 2183 deliveries during the study period, 43 (1.96%) were twin vaginal deliveries. Among the 43 women, 41 consented to have their newborns participate in the study. Overall, APGAR scores were better for the first twins at the first (p = 0.004) and fifth (p = 0.031) minutes than for the second twins. Although both twins had complications and that there were 4 neonatal deads of the second twin, there was no relationship between studied complications and the rank of the twin (p = 0.310). Conclusion: As the APGAR score seemed to be better for first twins, clinicians should pay more attention during twin births, in order to improve the prognosis of the second twin.

Abnormal Umbilical Doppler: Incidence and Neonatal Outcomes among Hypertensive Disorders in Pregnancy at KCMC: A Hospital-Based Prospective Cohort Study

Hypertensive disorders of pregnancy (HDP) are the most common maternal and perinatal health challenges. Globally, the incidence of HDP increased from 16.30 million to 18.08 million, with a total increase of about 10.9% from 1990 to 2019. Umbilical Doppler study in hypertensive disorders of pregnancy helps to predict neonatal outcomes and prevent neonatal and maternal morbidity and mortality. Objective: This study aims to determine the incidence of abnormal umbilical Doppler among hypertensive pregnant women, to identify the adverse neonatal outcomes associated with abnormal umbilical Doppler, and also to detect the diagnostic predictive values of umbilical Doppler to neonatal outcomes at KCMC. Material and methods: A hospital-based prospective cohort study included women with hypertensive disorders of pregnancy from the gestational age of 28 weeks and above, followed up to delivery during the study period from August 2022 to March 2023. Multivariate logistic regression analysis was used to determine the association between AUD and neonatal outcomes. Results: Out of 112 women with HDP, the incidence of abnormal umbilical Doppler was 38 (33.93%). Abnormal umbilical Doppler was associated with neonates with low birth weight aOR (95% of CI) of 4.52 (1.59 - 12.83) p = 0.005 and neonatal ICU admission 9.71 (2.90 - 32.43) p Conclusion: The incidence of abnormal umbilical Doppler is high in hypertensive disorders of pregnancy which is associated with an increase in neonatal low birth weight and neonatal ICU admissions, the sensitivity of abnormal umbilical Doppler in prediction of low birth weight and neonatal ICU admission is significant hence the routine use of umbilical Doppler assessment among hypertensive pregnant women is crucial.

Unusual Case of Unilateral Neonatal Eyeball Luxation: A Case Report

The newborn infant presented with severe proptosis. Data on clinical history, presentation, photos, radiological imaging, and laboratory results were presented. A literature review was conducted for the case and relevant treatment modalities. The surgical technique and the outcome were also discussed. The mass was present since birth in a full term neonate, causing complete globe dislocation of the left eye. Imaging showed a large cystic retro-bulbar mass completely occupying the orbital cavity and causing anterior dislocation of the left globe. Surgical excision of the tumor was carried out with globe preservation and Histopathology examination confirmed the diagnosis of optic nerve glioma. This was an atypical presentation of an optic nerve glioma causing globe dislocation in a neonate. The resection of such a large orbital tumor made globe preservation possible and resulted in an excellent cosmetic outcome. .

Increased Risk of Neonatal Pneumonia in Pregnant Women with Atypical Pre-Labor Rupture of Membrane Assessed at Pregnancy Week 39

Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a prospective real-world study. Patients and Methods: A total of 250 pregnant women at pregnancy week 39 were non-selectively recruited. All were examined by PROM and neonatal pneumonia related clinical, bedside and lab tests, including body temperature, blood pressure, increased vagina discharge, posterior vault pooling, abdominal tenderness, WBC count, nitrazine test, amniotic fluid index, Leakection (a sICAM-1 based lateral flow immunoassay) and vagina streptococcus examinations. Increased vagina discharge with a Leakection positivity was adopted as a working criterium for identifying atypical PROM. Neonatal pneumonia was diagnosed based on the clinical presentation and lab tests. Results: Twenty cases of neonatal pneumonia (8.0%) were diagnosed after the deliveries of the 250 pregnant women. In these neonatal pneumonia cases, 12 (16.7%) occurred in 72 deliveries with atypical PROM, 2 (16.7%) in 12 deliveries with typical PROM, and 6 (3.6%) in 166 deliveries with non-PROM. Conclusion: In this real-world study, we find that a systematic screening at pregnancy week 39 was very meaningful in revealing atypical PROM. Moreover, atypical PROM is a major risk factor for neonatal pneumonia. Therefore, an early diagnosis and intervention on atypical PROM could potentially reduce the occurrence of neonatal pneumonia.