Results 21 to 30 of about 5,947 (218)

Rotor Syndrome Presenting as Dubin-Johnson Syndrome

Case Reports in Gastroenterology, 2022
A 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg/dL, direct 5.37 mg/dL), bilirubinuria, no signs of
Mariana Morais, Philippe Couvert, Isabelle Jéru, Mariana Verdelho Machado   +3 more
doaj   +1 more source

Developmental, Genetic, Dietary, and Xenobiotic Influences on Neonatal Hyperbilirubinemia [PDF]

, 2017
Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns.
Mei-Fei Yueh, Robert H. Tukey, Chen, Shujuan, Shujuan Chen, Tukey, Robert H, Yueh, Mei-Fei, Nguyen, Nghia, Nghia Nguyen   +7 more
core   +1 more source

Anesthetic Management of a Patient with Gilbert's Syndrome for Spine Surgery: A Case Report

Journal of Neuroanaesthesiology and Critical Care, 2019
Gilbert's syndrome, a hereditary disorder characterized by mild unconjugated hyperbilirubinemia, poses multiple anesthetic challenges during major surgery.
Bhagya R. Jena, Ankur Khandelwal, Mihir P. Pandia, Gyaninder P. Singh   +3 more
doaj   +1 more source

Severe neonatal hyperbilirubinemia secondary to combined RhC hemolytic disease, congenital hypothyroidism and large adrenal hematoma: a case report

BMC Pediatrics, 2022
Background ABO blood group incompatibility, neonatal sepsis, G-6-PD deficiency, thyroid dysfunction, and hereditary spherocytosis are all probable causes of neonatal hyperbilirubinemia.
Chengiun Dai, Chun Chen, Liqiong Jiang, Yilin Zhu, Chunlin Wang   +4 more
doaj   +1 more source

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

Diagnostics, 2021
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities.
Valeria Cortesi, Francesca Manzoni, Genny Raffaeli, Giacomo Cavallaro, Bruno Fattizzo, Giacomo Simeone Amelio, Silvia Gulden, Ilaria Amodeo, Juri Alessandro Giannotta, Fabio Mosca, Stefano Ghirardello   +10 more
doaj   +1 more source

Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia. [PDF]

Journal of Clinical Investigation, 1989
TR- mutant rats have an autosomal recessive mutation that is expressed as a severely impaired hepatobiliary secretion of organic anions like bilirubin-(di)glucuronide and dibromosulphthalein (DBSP). In this paper, the hepatobiliary transport of glutathione and a glutathione conjugate was studied in normal Wistar rats and TR- rats.
Elferink, R. P., Ottenhoff, R., Liefting, W., de Haan, J., Jansen, P. L.   +4 more
openaire   +2 more sources

A novel <i>ANK1</i> frameshift mutation associated with neonatal hereditary spherocytosis: a case report. [PDF]

Front Pediatr
BackgroundHereditary spherocytosis (HS) is a genetically inherited hemolytic anemia resulting from erythrocyte membrane defects, predominantly associated with genetic mutations in membrane protein genes such as ANK1 and SPTB.
Qing X, Zhu J, Zhu X, Zhang Y, Deng J, Tang B.   +5 more
europepmc   +3 more sources

CLINICAL AND LABORATORY EVALUATION OF OUR PATIENTS WITH HEREDITARY SPHEROCYTOSIS

Hematology, Transfusion and Cell Therapy, 2021
Objective: Hereditary spherocytosis (HS) is a non-immune hemolytic anemia occurring with anemia, jaundice, splenomegaly symptoms in which  the cell membrane of the erythrocytes is transformed into the shape of spherocytes due to congenital membrane ...
Senanur Şanlı Çelik, Zeynep Yıldız Yıldırmak, Dildar Bahar Genç   +2 more
doaj   +1 more source

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report

BMC Pediatrics, 2022
Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA).
Yumei Zu, Hui Wang, Weijia Lin, Chaochun Zou   +3 more
doaj   +1 more source

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

The Application of Clinical Genetics, 2022
Yuqi Yang,1,* Yu Wang,2,* Lingna Zhou,1 Wei Long,2 Bin Yu,1 Huaiyan Wang2 1Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou, Jiangsu Province, People’s Republic of China; 2Department of Neonatology ...
Yang Y, Wang Y, Zhou L, Long W, Yu B, Wang H   +5 more
doaj