Results 51 to 60 of about 5,947 (218)

Features of intensified and prolonged hyperbilirubinemia in term neonates [PDF]

, 2019
Cilj istraživanja: Cilj istraživanja bio je istražiti obilježja intenzivirane i prolongirane hiperbilirubinemije terminske novorođenčadi. Ispitanici i metode: Ovo retrospektivno istraživanje obuhvatilo je 100 novorođenčadi, od kojih je 42 s dijagnozom ...
Gamberažić, Tea
core  

Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis

, 2021
RATIONALE: The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its ...
Chaomei Zeng, Liu, Jie, Shao, Shuming, Yimin Zhang, Zeng, Chaomei, Zhang, Yimin, Shuming Shao, Jie Liu, Xiaorui Zhang, Han, Ye, Zhang, Xiaorui, Ye Han   +11 more
core   +1 more source

Perioperative management and anaesthetic considerations for adult patients with Gilbert’s syndrome and oral cancer: review and case report

Biotechnology & Biotechnological Equipment, 2019
Gilbert’s syndrome is the most common cause of hereditary hyperbilirubinemia and poses a clinical challenge for anaesthesiologists. The decreased activity of bilirubin uridine glucuronyl transferase can lead to toxicity for usual doses of most ...
Dochka Tzoneva, Evgeniy Aleksiev, Kalina Michova, Pavel Stanimirov   +3 more
doaj   +1 more source

Endoscopic Treatment for Esophagogastric Variceal Bleeding in Patients With Acute‐on‐Chronic Liver Failure: An Observational Study

Portal Hypertension &Cirrhosis, EarlyView.
In patients with acute‐on‐chronic liver failure (ACLF), esophagogastric variceal bleeding (EGVB) represents a critical complication associated with high short‐term mortality. This study evaluated the efficacy of endoscopic treatment in this specific population and identified prognostic factors associated with 6‐week rebleeding and mortality.
Yanan Sun, Peng Li, Shibin Zhang, Yuening Zhang, Chunlei Fan, Ajuan Zeng, Yanna Liu, Huiguo Ding   +7 more
wiley   +1 more source

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

Frontiers in Genetics, 2020
A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene.
Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco   +5 more
doaj   +1 more source

A Rare Case of Hereditary Hemochromatosis Presenting As Hyperbilirubinemia

Cureus
Hemochromatosis is a condition marked by excessive iron accumulation, causing dysfunction in various organs. A 50-year-old woman, previously in good health, reported abdominal pain and yellowing of the skin and eyes for one month. Upon examination, she exhibited widespread jaundice, leg swelling, and abdominal distention.
Chitnis, Anish, Modi, Kunal, Dhadwad, Jagannath S, Agarwal, Mallika, Dash, Chandan   +4 more
openaire   +2 more sources

Improving Medication Safety Following Neonatal Discharge: A Feasibility Study of a Parent Medication Education Intervention in Ireland

Acta Paediatrica, EarlyView.
ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva, B. Cleary, F. Gaffney, L. Bracken, A. Gill, C. Sutton, J. Clark, V. Gray, N. McCallion, F. O'Brien   +9 more
wiley   +1 more source

Hereditary Spherocytosis in the Neonatal Period: A Case Report

, 2017
Hereditary spherocytosis (HS) is the third most common yet most frequently underrecognized, congenitally acquired hemolytic disease of the neonate. Hereditary spherocytosis is caused by a defect of one or more erythrocyte membrane proteins, which leads ...
Cheryl A. Henderson, Amy J. Jnah, Desi Newberry, Ashley Will   +3 more
core   +1 more source

Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency

Pediatric Hematology Oncology Journal
Introduction: Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA).
Mukesh Dhankar, Piali Mandal, Robin Singh   +2 more
doaj   +1 more source

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source