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UGT1A1 Polymorphisms and Mutations Affect Anticancer Drug Therapy
Published in Sherry X. Yang, Janet E. Dancey, Handbook of Therapeutic Biomarkers in Cancer, 2021
Tristan M. Sissung, Roberto Barbier, Lisa M. Cordes, William D. Figg
A milder variant of the classic Crigler-Najjar syndrome has been termed Crigler-Najjar syndrome type II (or “Arias Syndrome”), and is characterized by a partial deficiency of the glucoronyl transferase enzyme [71]. Genetic lesions are also found in the coding region of UGT1A1. However, these are always single base pair mutations which significantly reduce, without abolishing, UGT1A1 activity [71]. Kernicterus is rare due to lower total serum bilirubin levels which generally range from 6 to 20 mg/dL, and in some cases are only detected later in life. Patients with Crigler-Najjar syndrome type II have pigmented bile which contains significant fractions of bilirubin glucoronides [71]. Treatment with phenobarbital is effective because UGT1A1 is present at reduced but detectable levels, generally with a decrease of at least 25% in serum bilirubin. The inheritance pattern of Crigler-Najjar syndrome type II has been difficult to determine and both dominant and recessive inheritance patterns have been described [71]. Since type II patients have some bilirubin transferase activity, they have less severe hyperbilirubinemia, are subsequently less severely jaundiced, and generally survive into adulthood without neurologic or intellectual impairment, although bilirubin encephalopathy may develop later in life [71].
DRCOG MCQs for Circuit C Answers
Published in Una F. Coales, DRCOG: Practice MCQs and OSCEs: How to Pass First Time three Complete MCQ Practice Exams (180 MCQs) Three Complete OSCE Practice Papers (60 Questions) Detailed Answers and Tips, 2020
Intracranial haemorrhage in the newborn is commonly associated with hypoxia and prematurity. It is also a rare complication of instrumental delivery. Kernicterus is associated with athetoid cerebral palsy and sensorineural deafness.
Fetal and neonatal medicine
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
4.29. Which of the following statements is/are true of physiological jaundice?It rarely (<5%) presents before the age of 24 h.It is due mainly to temporarily impaired hepatic clearance of bilirubin.In premature infants it may persist for 3-4 weeks.Direct bilirubin levels may be as high as indirect bilirubin levels,It may cause kernicterus.
Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy
Published in Pediatric Hematology and Oncology, 2023
Edgar Gutierrez, Mathew G. Bayes, Jayati Mallick, Liesel Dell’osso, Kirill A. Lyapichev, Akila Muthukumar
At one week of life, the patient underwent brain magnetic resonance imaging (MRI) for concerns of kernicterus. Results of the MRI showed an immature appearing brain with nonspecific atrophy of the left temporal lobe (Figure 3).19,22,31,34,40 MRI findings included appears somewhat smooth cortical surface that may be attributed to decreased number of sulci with broadly spaced gyri, suggestive of pachygyria or a premature sulcation pattern. Mild to moderate atrophy of the left temporal lobe with compensatory ex-vacuo dilatation of the left lateral ventricle was noted. No abnormal parenchymal signal abnormality or abnormal gradient blooming noticed. Brain imaging findings in literature review of other patients with PGK1 deficiency were mostly normal or reveal nonspecific cerebellar atrophy.32
The relationship between UGT1A1 gene & various diseases and prevention strategies
Published in Drug Metabolism Reviews, 2022
Dan Liu, Qi Yu, Qing Ning, Zhongqiu Liu, Jie Song
Hyperbilirubinemia is one of the most common neonatal diseases and a major cause of bilirubin-induced encephalopathy. All newborns with an indirect risk factor for elevated bilirubin are at risk for bilirubin-induced encephalopathy, especially premature babies who are prone to low bilirubin kernicterus. Bilirubin-induced encephalopathy can be transient and acute, characterized by early, intermediate, and advanced phases, or it can be permanent, chronic, and life-long, with physical injuries including visual paralysis, sensorineural hearing loss, abnormal tooth development, extrapyramidal disturbances, and Jaundice-type cerebral palsy (Karimzadeh et al. 2020). In addition to the abnormal neurological manifestations of icteric neonates, brain magnetic resonance tomography (MRI) is the best imaging method for diagnosis (Gazzin et al. 2012). Although severe hyperbilirubinemia and bilirubin-induced encephalopathy can be prevented by phototherapy and early blood transfusion, there is no clear cure/treatment for chronic bilirubin encephalopathy.
A Neglected and Promising Predictor of Severe Hyperbilirubinemia Due to Hemolysis: Carboxyhemoglobin
Published in Fetal and Pediatric Pathology, 2020
Birol Karabulut, Baran Cengiz Arcagok
Despite ongoing research and progress related to hyperbilirubinemia, the presence of kernicterus demonstrates that the risk factors and techniques for early diagnosis may be unclear, but strategies for follow-up are well established. The clinical management guidelines on hyperbilirubinemia in newborns published by the American Academy of Pediatrics in 2004 recommended that systematic assessment be performed prior to discharge to determine the risk of severe hyperbilirubinemia and provide early and focused follow-up based on the risk assessment [7]. For this reason, a number of biomarkers, such as the bilirubin–albumin binding capacity, have been investigated with the aim of enabling early detection of severe hyperbilirubinemia, but no reliable markers with high sensitivity, specificity, and predictivity have been reported [8,9].