Hyperbilirubinemia

PURPOSE: Hepatobiliary scintigraphy (HBS) is used to aid in the diagnosis of Biliary Atresia in full-term infants with conjugated hyperbilirubinemia. There is little information on the utility of the HBS in premature infants with conjugated hyperbilirubinemia and infants with parenteral nutrition associated cholestasis (PNAC). The purpose of this study is to assess the utility of HBS in differentiating Biliary Atresia and PNAC in premature neonates and full-term infants who received parenteral nutrition (PN)...

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...

Despite its lengthy history the study of benign jaundice, hyperbilirubinemia and kernicterus suffers from a lack of clarity and consistency in the key terms used to describe both the clinical and pathophysiological nature of these conditions. This has led to multiple terms being used to describe similar conditions (i.e. kernicterus and chronic bilirubin encephalopathy) or the same term being used to describe different concepts (i.e. BIND as a descriptor of the signs of bilirubin neurotoxicity, mild kernicterus, or as a scale to assess bilirubin toxicity)...

INTRODUCTION: Serum indices have become a standard in assessing degree of endogenous interferences in serum and plasma samples. The aim of this study was to evaluate accuracy of I index in comparison with total bilirubin concentration in icteric samples with ranging amount of conjugated bilirubin. MATERIALS AND METHODS: This study retrospectively analyzed data from laboratory information system. Total, conjugated bilirubin and I index are measured on Abbott Architect c8000 (N=900)...

Combination antiretroviral treatment (cART) has significantly improved the life expectancy of people living with HIV. The life-long nature of cART increases the risk of side effects, which in some cases may have been caused by specific genetic characteristics. Patients treated with atazanavir (ATV) boosted with ritonavir (rit), which is a protease inhibitor used for the treatment of HIV, present with elevated bilirubin levels, at high proportions. ATV/rit-related hyperbilirubinemia has been previously associated with genetic characteristics in uridine diphosphate glucuronosyltransferase (UGT) enzyme...

Neonatal hyperbilirubinemia is generally a benign transitional phenomenon, and may even be a protective antioxidant mechanism for human neonates who may be vulnerable to the oxidative stress (compared to life in utero) encountered during birth an extra-uterine oxidative environment (1, 2). The pathophysiologic impact of neonatal unconjugated hyperbilirubinemia has been well reviewed in this supplement (see Jon fill-in). The severity of hyperbilirubinemia varies due to the magnitude of an imbalance between two major contributing processes: (i) an increase bilirubin production rate due to an increase in heme turnover (two to three times that of an adult) due to the degradation of fetal red blood cells (RBCs), which have a shortened lifespan, after birth (3, 4); and/or (ii) a diminished ability of the immature newborn liver to conjugate bilirubin and therefore excrete bilirubin in bile...

PURPOSE: The purpose of this study is to determine the adverse perinatal outcomes in uncomplicated late preterm pregnancies with borderline oligohydramnios. METHODS: A total of 430 pregnant women with an uncomplicated singleton pregnancy at a gestational age of 34 + 0-36 + 6 weeks were included. Borderline oligohydramnios was defined as an amniotic fluid index (AFI) of 5.1-8 cm, which was measured using the four-quadrant technique. Adverse perinatal outcomes were compared between the borderline and normal AFI groups...

BACKGROUND & AIMS: The analgesic flupirtine has been linked to cases of severe idiosyncratic drug-induced liver injury (sFILI). We therefore examined whether N-acetylcysteine (NAC) and glucocorticoid therapy is effective in the management of sFILI. METHODS: In a retrospective cohort study efficacy of NAC-infusion and oral prednisolone treatments on liver-function-tests (LFTs) and clinical outcome of 21 sFILI cases was evaluated by comparing it to an external cohort of 30 sFILI cases not receiving the antidote...

BACKGROUND AND AIM: The real-world effectiveness and safety of paritaprevir/ritonavir, ombitasvir, and dasabuvir (PrOD) remain limited for East Asian hepatitis C virus genotype 1b (HCV-1b) patients. We aimed to evaluate the anti-viral responses of PrOD-based regimens for HCV-1b patients in Taiwan. METHODS: We performed a retrospective analysis of 103 HCV-1b patients receiving PrOD with or without ribavirin (RBV) for 12 weeks. Data were analyzed to assess the on-treatment and off-therapy HCV viral load, and on-treatment adverse events (AEs)...

BACKGROUND: Liver dysfunction in left ventricular assist device (LVAD) recipients is common both before and after implantation. Postoperative liver dysfunction (PLD) develops in some LVAD recipients without preoperative liver dysfunction. The aim of this study was to assess clinical outcomes in such patients. METHODS: Records of all patients undergoing implantation of a HeartMate II (HM II, St. Jude Medical, Inc, Minneapolis, MN) LVAD at a single center at the University of Minnesota from January 2005 through June 2014 were analyzed...

We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine workup revealed nearly absent adrenocorticotropic hormone. Coupled with his persistent hypertriglyceridemia (peak of 811 mg/dL) and elevated creatine kinase levels (>20 000 U/L), his corticotropin level lead to a clinical diagnosis of complex glycerol kinase deficiency (GKD), also known as Xp21 deletion syndrome...

Eccrine chromhidrosis can occur secondary to hyperbilirubinemia. We report an adolescent with sickle cell disease who presented with eccrine chromhidrosis on his palmar and plantar surfaces. He had extremely high levels of conjugated bilirubin but no fever. This is the youngest known reported patient with eccrine chromhidrosis and the first in a patient with sickle cell disease.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human erythrocyte enzyme defect, estimated to affect approximately 4 million people worldwide. It is associated with severe neonatal hyperbilirubinemia, which may lead to bilirubin encephalopathy and kernicterus, and with hemolytic crisis. G6PD deficiency is an X-linked enzymopathy affecting hemizygous males, homozygous females, and also a subset of heterozygous females via chromosome X inactivation. We report four cases of female newborns with neonatal hyperbilirubinemia related to a G6PD deficiency and followed by the Centre national de référence en hémobiologie périnatale (CNRHP) from November 2013 to July 2014...

Crigler-Najjar syndrome type I (CNSI) is a rare monogenic disease characterized by severe neonatal unconjugated hyperbilirubinemia with a lifelong risk of neurological damage and death. Liver transplantation is the only curative option, which has several limitations and risks. We applied an in vivo gene targeting approach based on the insertion, without the use of nucleases, of a promoterless therapeutic cDNA into the albumin locus of a mouse model reproducing all major features of CNSI Neonatal transduction with the donor vector resulted in the complete rescue from neonatal lethality, with a therapeutic reduction in plasma bilirubin lasting for at least 12 months, the latest time point analyzed...

Cytomegalovirus (CMV) is one of the most frequently encountered opportunistic viral pathogens in kidney transplant recipients. In this study, we retrospectively reviewed all living related and unrelated kidney transplant recipients on regular follow-up from January 2006 to June 2015, who were suspected to have CMV clinically and confirmed by DNA polymerase chain reaction (PCR). CMV PCR was detected in 102 kidney transplant recipients. The median time of detection after kidney transplant was 21 months, ranging from 15 days to 84 months...

Albumin is one of the most abundant proteins in plasma and serves many vital functions. Neonatal concentrations vary greatly with gestational and postnatal age. In critically ill neonates, hypoalbuminemia occurs due to decreased synthesis, increased losses or redistribution of albumin into the extravascular space, and has been associated with increased morbidities and mortality. For that reason, infusion of exogenous albumin as a volume expander has been proposed for various clinical settings including hypotension, delivery room resuscitation, sepsis and postoperative fluid management...

Extreme hyperbilirubinemia and kernicterus, though rare, continue to occur despite the adoption of universal screening. Unless they are known to have glucose-6-phosphate dehydrogenase deficiency, infants who currently develop kernicterus in high resource countries are often otherwise healthy newborns discharged from the well-baby nursery. In this review, we highlight risk factors that increase the risk of a newborn ≥35 weeks gestational age developing severe hyperbilirubinemia, as well as the risk factors that increase the hyperbilirubinemic infant's risk of kernicterus...

Babesiosis is an emerging tick-borne disease transmitted by the hard tick Ixodes scapularis, which also transmits Lyme disease. Better gradation of prognostic indicators are needed to determine which patients may develop serious complications requiring hospitalization, and to provide early guidance on appropriate therapy. In this study, we evaluated 128 patients with smear or real time polymerase chain reaction-confirmed Babesia microti infections over a period of 16 years. Patients with asplenia or immunocompromising conditions were more likely to have severe infection (P < 0...

BACKGROUND: Conjunctival icterus is a largely neglected physical sign that may be helpful in identifying neonates with clinically relevant hyperbilirubinemia by practitioners in the hospital and outpatient clinic or parents at home. OBJECTIVE: A recent NICU based study reported that conjunctival icterus is often a sign of significant (TSB ≥ 17 mg/dl) hyperbilirubinemia and TSB levels ≥ 76th-95th percentile on the Bhutani nomogram. In contrast, others report that conjunctival icterus, although frequently present at high TSB levels, may also be detected at lower TSB concentrations; suggesting instead that its absence may help to rule out significant hyperbilirubinemia...

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency triggered and low-bilirubin kernicterus persist despite current prevention strategies. OBJECTIVE: Efforts to eradicate bilirubin induced brain injury in these two conditions will require novel approaches to riskassessment and hyperbilirubinemia evaluation. METHOD: In the case of G6PD deficency, a heightenedawareness of populations at risk on who expanded kernicterus preventio strategies can befocused including intensified parental engagement, education and counselling on neonataljaundice...