Results 61 to 70 of about 114,297 (258)
Acta Paediatrica, EarlyView.ABSTRACT Aim To describe age‐specific clinical features and identify predictors of length of hospital stay in children and adolescents with primary Epstein–Barr virus (EBV) infectious mononucleosis (IM). Methods This multicentre retrospective cohort study included all children and adolescents aged 0–17 years with a verified primary EBV infection in the
Lasse H. Nyhegn +5 more
wiley +1 more source
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 +5 more
doaj +1 more source
A Rare Case of Hereditary Hemochromatosis Presenting As Hyperbilirubinemia
CureusHemochromatosis 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 +4 more
openaire +2 more sources
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To determine the best combination of perinatal characteristics, socioenvironmental factors, and neurological examination at term‐equivalent age for identifying motor delay at 3 months 2 weeks corrected age in infants born preterm between 29 weeks and 36 weeks of gestation.
Melanie Gagnon +8 more
wiley +1 more source
Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency
Pediatric Hematology Oncology JournalIntroduction: Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA).
Mukesh Dhankar +2 more
doaj +1 more source
Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]
, 1997 From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]
, 2003 BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A +16 more
core +1 more source
Extended Double Plasma Molecular Adsorption Sessions and Bilirubin Clearance: A Case Report
Hemodialysis International, EarlyView.ABSTRACT Background The double plasma molecular adsorption system is an artificial‐liver treatment model combining the use of ion exchange resins and neutral microporous resins to remove toxins such as inflammatory cytokines without consuming large amounts of plasma and albumin. Given the relatively expensive consumables needed for Bilirubin adsorption,
Hui Ye +7 more
wiley +1 more source
Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]
, 2014 25/03/14 meb. OA paper , Ok to add.Background: Pulmonary first pass filtration of particles marginally exceeding ~7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in ...
John A Livesey +38 more
core +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