Kernicterus

OBJECTIVE: Dystonia is a movement disorder defined by involuntary muscle contractions leading to abnormal postures or twisting and repetitive movements. Classically dystonia has been thought of as a disorder of the basal ganglia, but newer results in idiopathic dystonia and lesion-induced dystonia in adults point to broader motor network dysfunction spanning the basal ganglia, cerebellum, premotor cortex, sensorimotor, and frontoparietal regions. It is unclear whether a similar network is shared between different etiologies of pediatric lesion-induced dystonia...

Hereditary TTP (hTTP), termed Upshaw-Schulman syndrome, is an ultra-rare disorder caused by a severe deficiency of plasma ADAMTS13 activity that allows circulation of ultra-large von Willebrand factor (UL-VWF) multimers. The greatest risk for hTTP is in their first days after birth, when 35-50% of patients will have severe hemolysis, jaundice, and thrombocytopenia. It is often fatal without effective treatment. In utero, fetal blood flowing from the pulmonary artery through the ductus arteriosus (DA) to the aorta is under low-shear-force...

INTRODUCTION: Raised serum bilirubin levels can cause kernicterus, and premature infants are at increased risk owing to metabolic immaturity. The standard treatment for neonatal jaundice is phototherapy, but probiotics alone can reduce the duration of phototherapy and hospitalisation. OBJECTIVES: To determine the effectiveness of phototherapy with and without probiotics for the treatment of indirect hyperbilirubinaemia in preterm neonates. PATIENTS AND METHODS: The open-labelled randomised controlled trial was conducted from January 2022 to January 2023 in the neonatal unit of the University of Lahore Teaching Hospital, Pakistan...

Neonatal Jaundice is a common occurrence in neonates. High excess bilirubin would lead to hyperbilirubinemia, leading to irreversible adverse damage such as kernicterus. Therefore, it is necessary and important to monitor neonates' bilirubin levels in real-time for immediate intervention. However, current screening protocols have their inherent limitations, necessitating more convenient measurements. In this proof-of-concept study, we evaluated the feasibility of using machine learning for the screening of hyperbilirubinemia in neonates from smartphone-acquired photographs...

BACKGROUND: Cerebral palsy (CP) is a group of disorders that affect movement and posture caused by injury to the developing brain. Although prematurity and low birth weight are common causes in developed countries, birth asphyxia, kernicterus, and infections have been identified as predominant etiologies in Africa. There is, however, very little information on the etiology of CP in South Africa. We aimed to determine the etiology, severity, and topographic distribution of CP in children undergoing orthopedic surgery at our tertiary pediatric unit...

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The mechanisms involved in bilirubin neurotoxicity are still far from being fully elucidated. Several different events concur to damage mainly the neurons among which inflammation and alteration of the redox state play a major role. An imbalance of cellular calcium homeostasis has been recently described to be associated with toxic concentrations of bilirubin, and this disequilibrium may in turn elicit an inflammatory reaction. The different and age-dependent sensitivity to bilirubin damage must also be considered in describing the dramatic clinical picture of bilirubin-induced neurological damage (BIND) formerly known as kernicterus spectrum disorder (KSD)...

INTRODUCTION: Worldwide, neonatal jaundice accounts for considerable morbidity and mortality. Although severe adverse outcomes, such as hyperbilirubinaemia and kernicterus, are uncommon in high-income countries, these outcomes do occur, have enormous lifelong personal, health and social costs, and may be preventable. Evidence-based practice commonly relies on clinical guidelines; however, their implementation can be difficult. Implementation of neonatal jaundice care has been adversely affected by issues with professional boundaries, competing professional priorities and poor understanding of neonatal jaundice...

BACKGROUND: Severe neonatal hyperbilirubinemia could lead to kernicterus and neonatal death. This study aimed to analyze the association between single nucleotide polymorphisms in genes involved in bilirubin metabolism and the incidence of severe hyperbilirubinemia. METHODS: A total of 144 neonates with severe hyperbilirubinemia and 50 neonates without or mild hyperbilirubinemia were enrolled in 3 institutions between 2019 and 2020. Twelve polymorphisms of 5 genes (UGT1A1, SLCO1B1, SLCO1B3, BLVRA, and HMOX1) were analyzed by PCR amplification of genomic DNA...

OBJECTIVE: Initiatives, "Every Newborn Action Plans" and "Sustainable Developmental Goals," are profoundly shaping global infant mortality trends. Concurrently, professional organizations recommended curricula to prevent extreme hyperbilirubinemia (EHB) sequelae. Therefore we assessed if these efforts have successfully decreased EHB-related mortality over time. STUDY DESIGN: We used the Global Burden of Diseases 2019 database to determine neonatal and infant mortality and the burden of kernicterus from 1990-2019...

INTRODUCTION: Infants commonly require phototherapy in the nursery to prevent kernicterus, but it can interfere with parent-infant bonding. Minimizing unnecessary phototherapy is important. We noticed frequent delays in initiating and discontinuing phototherapy at our hospital. Our primary aim was to start or stop phototherapy within 3 hours of the intended blood draw time for more than 80% of patients by August 2022. Our secondary aims were to have the bilirubin result available within two hours of the intended draw time and for the result to be actioned upon within 1 hour of becoming available...

All national and international pediatric guidelines universally prescribe meticulous bilirubin screening for neonates as a critical measure to mitigate the incidence of acute bilirubin encephalopathy (ABE) and Kernicterus. The prevailing gold standard for jaundice detection in neonates necessitates invasive blood collection, followed by subsequent biochemical testing. While the invasive procedure provides dependable bilirubin measurements and continues to be the sole gold standard diagnostic method for assessing bilirubin concentration...

BACKGROUND: In low and middle-income countries, close to half of the mortality in children under the age of five years occurs in neonates. OBJECTIVES: We examined the trend, medical conditions and factors associated with newborn deaths at the Princess Marie Louise Children's Hospital (PML), Accra, from 2014 to 2017 (4 years). METHODS: The study was a cross-sectional study. Data on age, sex, date of admission, date of discharge, cause of death and place of residence of these babies were obtained from the records department...

Crigler-Najjar syndrome (CNS) is an exceedingly rare autosomal recessive disease with an estimated incidence of 1 in a million live births. CNS type 1 (CNS1) is the most severe form, characterized by severe unconjugated hyperbilirubinemia since birth due to the absence of hepatic uridine 5'-diphosphate glucuronyltransferase (UGT1A1) activity. Daily phototherapy (PT) and liver transplant (LT) are the mainstays of therapy. Here, we present a higher-than-expected incidence of CNS1 in Croatia (6,1 in a million)...

PURPOSE: This study sought to investigate the relationship between the globus pallidus/putamen T1 weighted image (T1 WI) signal intensity ratio (G/P ratio) and the acute bilirubin encephalopathy (ABE) in neonates, and to develop a new strategy for the grading and prognosis of ABE based on the G/P ratio. METHODS: A total of 77 full-term neonates with ABE were scored according to bilirubin-induced neurological dysfunction and divided into mild, moderate, and severe groups...

Kernicterus is a serious complication of hyperbilirubinemia, caused by neuronal injury due to excessive unconjugated bilirubin (UCB) in specific brain areas. This injury induced by this accumulation in the globus pallidus can induce severe motor dysfunction. Repetitive transcranial magnetic stimulation (rTMS) has shown neuroprotective effects in various neurological diseases. This study aimed to investigate the effects of rTMS on pallidal nerve damage and motor dysfunction in a rat model of kernicterus. Rats were divided into a sham group (n = 16), a model group (bilirubin with sham rTMS; n = 16) and an rTMS group (bilirubin with rTMS; n = 16)...

Bilirubin-induced neurological damage (BIND), which might progress to kernicterus, occurs as a consequence of defects in the bilirubin conjugation machinery, thus enabling albumin-unbound free bilirubin (BF) to cross the blood-brain barrier and accumulate within. A defect in the UGT1A1 enzyme-encoding gene, which is directly responsible for bilirubin conjugation, can cause Crigler-Najjar syndrome (CNS) and Gilbert's syndrome. We used human-induced pluripotent stem cell (hiPSC)-derived 3D brain organoids to model BIND in vitro and unveil the molecular basis of the detrimental effects of BF in the developing human brain...

AIM: This study aimed to establish the incidence and nature of neurodevelopmental outcomes following extreme neonatal hyperbilirubinaemia in an Australian cohort. METHODS: A prospective cohort study of neurodevelopmental outcomes up to 3 years of age of infants born between 2010 and 2013 at ≥34 weeks gestation, with total serum bilirubin ≥450 μmol/L and/or clinical signs of acute bilirubin encephalopathy. Outcome measures comprised neurological examination, Bayley Scales of Infant and Toddler Development, 3rd edition and Ages and Stages Questionnaire, 3rd edition...

Crigler-Najjar is a rare, autosomal recessive disorder that results in mutations causing a complete absence (type I) or deficiency (type II) of the hepatic uridine diphospho-glucuronosyl transferase (UDPGT) enzyme. Both forms, however, result in unconjugated hyperbilirubinaemia which can lead to kernicterus and potentially death. Phenobarbitone can be used as an enzyme inducer in Type II to facilitate a reduction in total serum bilirubin. We report two consecutive pregnancies in a 29-year-old woman with Crigler-Najjar Type II syndrome...