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Hyperbilirubinemia

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https://www.readbyqxmd.com/read/29453415/erlin1-mutations-cause-teenage-onset-slowly-progressive-als-in-a-large-turkish-pedigree
#1
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A Nazlı Başak
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29450817/prediction-of-neonatal-hyperbilirubinemia-using-1st-day-serum-bilirubin-levels
#2
S M Spoorthi, Siddappa F Dandinavar, Vinod H Ratageri, Prakash K Wari
The study was conducted on Full term neonates with birth weight > 2.5 kg born in KIMS, Hubballi with an objective to determine the first day Total Serum Bilirubin (TSB) value so as to predict subsequent development of significant hyperbilirubinemia in term neonates. All enrolled neonates were sampled for TSB and blood group on Day 1 at 20 ± 4 h and then followed up clinically by Kramer's rule and when the clinical jaundice by Kramer's rule was >10 mg/dl, TSB levels were repeated. A total of 180 newborns were enrolled for the study and 165 babies completed the study...
February 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29447811/sensorineural-and-conductive-hearing-loss-in-infants-diagnosed-in-the-program-of-universal-newborn-hearing-screening
#3
Katarzyna Wroblewska-Seniuk, Piotr Dabrowski, Grazyna Greczka, Katarzyna Szabatowska, Agata Glowacka, Witold Szyfter, Jan Mazela
OBJECTIVE: The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. MATERIAL AND METHODS: A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. RESULTS: 27 935 infants were covered by the universal neonatal hearing screening program...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29441172/association-of-direct-bilirubin-level-with-postoperative-outcome-in-critically-ill-postoperative-patients
#4
Masaharu Nagae, Moritoki Egi, Kenta Kubota, Shohei Makino, Satoshi Mizobuchi
Background: Hyperbilirubinemia is a common postoperative complication. Elevated direct bilirubin (D-Bil) and indirect bilirubin (I-Bil) levels are related to different pathophysiologies; therefore, their associations with outcomes also differ. However, there have been few comparative studies of such associations in postoperative patients. Methods: This retrospective study compared the associations of postoperative D-Bil and I-Bil with outcomes. We included adult patients requiring postoperative intensive care for more than 48 hours between 2008 and 2013, except those undergoing liver operations...
February 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29431566/levocarnitine-for-asparaginase-induced-hepatic-injury-a-multi-institutional-case-series-and-review-of-the-literature
#5
Rachael R Schulte, Manasi V Madiwale, Allyson Flower, Jessica Hochberg, Michael J Burke, Jennifer L McNeer, Adam DuVall, Archie Bleyer
Asparaginase, an important treatment component for acute lymphoblastic leukemia (ALL), causes severe hepatotoxicity in some patients. Levocarnitine is a mitochondrial co-factor that can potentially ameliorate the mitochondrial toxicity of asparaginase. In this retrospective case series, we describe the clinical presentation and management of six pediatric and young adult patients (mean age 12.7, range 9-24 years) with ALL who developed Grade 3-4 hyperbilirubinemia following administration of asparaginase as part of induction/re-induction therapy...
February 12, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29424478/liver-graft-to-spleen-volume-ratio-as-a-useful-predictive-factor-of-the-early-graft-function-in-children-and-young-adults-transplanted-for-biliary-atresia
#6
Yoshiaki Takahashi, Toshiharu Matsuura, Koichiro Yoshimaru, Yusuke Yanagi, Makoto Hayashida, Tomoaki Taguchi
BACKGROUND: A graft volume/standard liver volume ratio (GV/SLV) > 35% or graft/recipient weight ratio (GRWR) >0.8% has been considered as a standard criteria of graft selection. Even if the graft size meets these selection criteria, small-for-size syndrome can still occur depending on the portal venous flow (PVF). The aim of this study was to identify other factors contributing to portal hyperperfusion and the post-transplant course, focusing on the graft volume-to-spleen volume ratio (GV/SV)...
February 9, 2018: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/29419935/treatment-of-acute-kidney-injury-associated-with-cyclosporine-overdose-in-a-dog-using-hemodialysis-and-charcoal-hemoperfusion
#7
Gilad Segev, Larry D Cowgill
OBJECTIVE: To describe the management of cyclosporine overdose using hemodialysis and hemoperfusion in a dog. CASE SUMMARY: A 6-year-old, spayed female Australian Shepherd was presented for treatment of cyclosporine overdose and acute kidney injury. Five days prior to presentation, the dog had been diagnosed by its referring veterinarian with immune-mediated thrombocytopenia. Treatment was initiated with prednisone, but since no response was noted, azathioprine (50 mg PO q 24 h) and cyclosporine (6 mg/kg IV q 24 h) were added...
February 8, 2018: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/29419612/effectiveness-of-universal-hyperbilirubinemia-screening-on-newborn-health-a-systematic-review-protocol
#8
Faiza Khurshid, Jennifer Medves
The objective of this review is to assess the effectiveness of the universal hyperbilirubinemia screening program on common newborn health outcomes.Specifically, the review will assess: the incidence of severe hyperbilirubinemia/kernicterus/exchange transfusion, rate of readmission due to jaundice, length of hospital stay on birth admission, rate and utilization of phototherapy during birth hospitalization, and jaundice related emergency visits.
February 2018: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/29410540/abo-hemolytic-disease-of-the-fetus-and-newborn-thirteen-years-of-data-after-implementing-a-universal-bilirubin-screening-and-management-program
#9
R D Christensen, V L Baer, B C MacQueen, E A O'Brien, S J Ilstrup
OBJECTIVE: ABO hemolytic disease occurs among neonates with blood groups A or B delivered to group O women. Extreme neonatal hyperbilirubinemia due to ABO disease has been reported, but its frequency is not well known. We sought to determine the odds of developing severe ABO hemolytic disease in the 13 years since adopting universal bilirubin screening/management in the Intermountain Healthcare system. STUDY DESIGN: We conducted a retrospective analysis of neonates born between 2004 and 2016, defining "severe hemolytic disease" as; (1) total serum bilirubin (TSB) >25 mg/dL, or (2) hospital readmission for jaundice, or (3) bilirubin encephalopathy...
February 6, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29407583/pegaspargase-related-high-grade-hepatotoxicity-in-a-pediatric-inspired-adult-acute-lymphoblastic-leukemia-regimen-does-not-predict-recurrent-hepatotoxicity-with-subsequent-doses
#10
Patrick W Burke, Ibrahim Aldoss, Matthew A Lunning, Sean M Devlin, Martin S Tallman, Vinod Pullarkat, Ann M Mohrbacher, Dan Douer
Pediatric acute lymphoblastic leukemia (ALL) regimens, including higher cumulative asparaginase doses, have been investigated in adult ALL to improve outcomes. Preliminary results are promising, but hepatotoxicity rates with long-acting pegaspargase are greater in adults than children. However, adult pegaspargase-related hepatotoxicity is not as clearly defined despite being the commonest adult toxicity. We studied the frequency and characteristics of high-grade pegaspargase-related hepatotoxicity in newly diagnosed adults on a pediatric-inspired regimen that included six planned pegaspargase doses, 2000 IU/m2/dose intravenously, with doses given at least four weeks apart and not discontinued or dose-reduced for previous hepatotoxicity...
January 3, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29399656/severe-neonatal-hyperbilirubinemia-in-crigler-najjar-syndrome-model-mice-can-be-reversed-with-zinc-protoporphyrin
#11
Ryoichi Fujiwara, Ryo Mitsugi, Asuka Uemura, Tomoo Itoh, Robert H Tukey
Neurotoxic bilirubin is solely conjugated by UDP-glucuronosyltransferase (UGT) 1A1. Due to an inadequate function of UGT1A1, human neonates develop mild to severe physiological hyperbilirubinemia. Accumulation of bilirubin in the brain leads to the onset of irreversible brain damage called kernicterus. Breastfeeding is one of the most significant factors that increase the risk of developing kernicterus in infants. Why does the most natural way of feeding increase the risk of brain damage or even death? This question leads to the hypothesis that breast milk-induced neonatal hyperbilirubinemia might bring certain benefits to the body...
October 2017: Hepatology Communications
https://www.readbyqxmd.com/read/29394608/-pancreaticoduodenectomy-in-a-patient-with-severe-hyperbilirubinemia-a-case-report
#12
Yoichi Miyata, Akiko Nakazawa, Tetsuya Mitsui, Riki Ninomiya, Masahiko Komagome, Akira Maki, Yoshifumi Beck
Although the safety of pancreaticoduodenectomy(PD)with hyperbilirubinemia has been reported, the permissible value of preoperative serum bilirubin is unknown. A 58-year-old man developed obstructive jaundice due to duodenal adenocarcino- ma. The initial serum bilirubin value was 26.8mg/dL, and preoperative biliary drainage was performed. However, the serum bilirubin value only decreased to 17.7mg/dL. The other liver function tests were normal. Therefore, we decided to perform PD despite persistent severe hyperbilirubinemia...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29393277/variation-in-the-phototherapy-practices-and-irradiance-of-devices-in-a-major-metropolitan-area
#13
Amy R Borden, Katie M Satrom, Paul Wratkowski, Thomas N George, Constance A Adkisson, Hendrik J Vreman, Austin P Johnson, Kent J Nichols, Tina M Slusher
BACKGROUND: Phototherapy (PT) is widely used to prevent and treat severe hyperbilirubinemia and its associated risks for both acute and chronic bilirubin encephalopathy. Intensive PT, recommended for inpatient treatment of hyperbilirubinemia in term and near-term infants, is defined as having a spectral irradiance of ≥30 μW/cm2/nm. OBJECTIVES: We aimed to assess local PT practices by measuring the irradiance of PT devices in local neonatal intensive care units and newborn nurseries...
January 31, 2018: Neonatology
https://www.readbyqxmd.com/read/29390977/acute-biliary-events-during-anti-tuberculosis-treatment-hospital-case-series-and-a-nationwide-cohort-study
#14
Lih-Yu Chang, Chih-Hsin Lee, Chia-Hao Chang, Ming-Chia Lee, Meng-Rui Lee, Jann-Yuan Wang, Li-Na Lee
BACKGROUND: Tuberculosis (TB) remains one of the major infectious diseases worldwide. Adverse reactions are common during TB treatment. Few reports, however, are available on treatment-related acute biliary events (ABEs), such as cholelithiasis, biliary obstruction, acute cholecystitis, and cholangitis. METHODS: We first report four pulmonary TB patients who developed ABEs during anti-TB treatment. Abdominal sonography revealed multiple gall stones with dilated intrahepatic ducts in three patients and cholecystitis in one patient...
February 1, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29390925/diagnostic-criteria-and-contributors-to-gilbert-s-syndrome
#15
Karl-Heinz Wagner, Ryan G Shiels, Claudia Anna Lang, Nazlisadat Seyed Khoei, Andrew C Bulmer
Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia. Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy...
February 1, 2018: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29386646/-gilbert-s-like-syndrome-as-part-of-a-spectrum-of-persistent-unconjugated-hyperbilirubinemia-in-post-chronic-hepatitis-patients
#16
Jin Ye, Lianlian Cui, Yingqiao Zhou, Ying Huang, Omar Banafa, Xiaohua Hou, Zhen Ding, Rong Lin
Gilbert's syndrome (GS) patients present with remittent unconjugated hyperbilirubinemia. In this study, we investigated the correlation between polymorphisms in the gene encoding UDP-glucuronosyltransferase, UGT1A1, and the development of unconjugated hyperbilirubinemia in clinical GS and post-hepatitis hyperbilirubinemia. Blood samples were collected from 285 patients, including 85 patients who were clinically diagnosed with GS, 70 patients who had indirect hyperbilirubinemia during the recovery period of chronic liver diseases, 109 patients with normal hepatic function and 21 chronic active hepatitis patients...
January 31, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29357878/unconjugated-bilirubin-induces-pyroptosis-in-cultured-rat-cortical-astrocytes
#17
Jie Feng, Mengwen Li, Qian Wei, Shengjun Li, Sijie Song, Ziyu Hua
BACKGROUND: Bilirubin-induced neurological dysfunction (BIND), a severe complication of extreme neonatal hyperbilirubinemia, could develop into permanent neurodevelopmental impairments. Several studies have demonstrated that inflammation and nerve cell death play important roles in bilirubin-induced neurotoxicity; however, the underlying mechanism remains unidentified. METHODS: The present study was intended to investigate whether pyroptosis, a highly inflammatory form of programmed cell death, participated in the bilirubin-mediated toxicity on cultured rat cortical astrocytes...
January 22, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#18
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29319442/clinical-signs-treatment-and-prognostic-factors-for-dogs-with-histoplasmosis
#19
Allison G Wilson, Kate S KuKanich, Andrew S Hanzlicek, Mark E Payton
OBJECTIVE To determine the clinical manifestations of histoplasmosis in a large sample of dogs, compare outcomes achieved with fluconazole versus itraconazole, and identify variables available at the time of diagnosis with prognostic value. DESIGN Retrospective case series with nested cohort study. ANIMALS 79 dogs with confirmed histoplasmosis evaluated at 2 veterinary teaching hospitals from 1999 through 2015. PROCEDURES Medical records were reviewed and data extracted regarding clinical signs at evaluation, physical examination findings, clinical laboratory values, other diagnostic test results, treatments, and outcomes...
January 15, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29316063/bilirubin-reversibly-affects-cell-death-and-odontogenic-capacity-in-shed
#20
Haruyoshi Yamaza, Erika Tomoda, Soichiro Sonoda, Kazuaki Nonaka, Toshio Kukita, Takayoshi Yamaza
OBJECTIVE: Hyperbilirubinemia in patients with biliary atresia causes deciduous tooth injuries such as green pigmentation and dentin hypoplasia. In patients with biliary atresia who received liver transplantation, tooth structure appears to be recovered radiographically. Nevertheless, little is known about cellular mechanisms underlying bilirubin-induced damage and suppression of deciduous tooth formation. In this study, we examined the effects of bilirubin in stem cells from human exfoliated deciduous teeth (SHED) in vitro...
January 9, 2018: Oral Diseases
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