scholarly journals Corrigendum to “Assessment of School Readiness in Chronic Cholestatic Liver Disease: A Pilot Study Examining Children with and without Liver Transplantation”

2017 ◽  
Vol 2017 ◽  
pp. 1-1
Author(s):  
Anna Gold ◽  
Alaine Rogers ◽  
Elizabeth Cruchley ◽  
Stephanie Rankin ◽  
Arpita Parmar ◽  
...  
2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Anna Gold ◽  
Alaine Rogers ◽  
Elizabeth Cruchley ◽  
Stephanie Rankin ◽  
Arpita Parmar ◽  
...  

Background. Assessment of school readiness evaluates physical, social-emotional, and neuropsychological domains essential for educational success. Cognitive testing of preschool aged children with chronic liver disease may guide more timely interventions and focused efforts by health care providers. Patients and Methods. Children with chronic cholestatic liver disease diagnosed as an infant and still with their native liver (NL) and children who received a liver transplant (LT) before age of 2 years underwent testing with a battery of well-validated pediatric psychometric measures. Results. Eighteen (13 LT, 5 NL) patients (median age of 4.45 and 4.05 years, resp.) were tested. Median Full-Scale IQ was 98 (range 102–116) for LT and 116 [(range 90–106), p=0.35, NS] for NL subjects. LT recipients had significantly greater visual based difficulties, poorer caregiver rated daily living skills (p=0.04), and higher levels of executive function based difficulties (e.g., inattention, inhibition). Conclusion. This pilot study highlights the risk of neuropsychological difficulties in early school age children who were under 2 years of age at time of LT. Comprehensive early school age assessment should integrate psychometric measures to identify children at greatest risk, thus allowing for proactive educational intervention.


2021 ◽  
pp. 109352662110511
Author(s):  
Mukul Vij ◽  
Srinivas Sankaranarayanan

Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 ( USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease.


Hepatology ◽  
1999 ◽  
Vol 29 (2) ◽  
pp. 356-364 ◽  
Author(s):  
Cynthia R. Gross ◽  
Michael Malinchoc ◽  
W. Ray Kim ◽  
Roger W. Evans ◽  
Russell H. Wiesner ◽  
...  

2003 ◽  
Vol 18 (12) ◽  
pp. 2190-2199 ◽  
Author(s):  
Maureen MJ Guichelaar ◽  
Michael Malinchoc ◽  
Jean D Sibonga ◽  
Bart L Clarke ◽  
J Eileen Hay

2020 ◽  
Vol 25 (2) ◽  
pp. 107-117
Author(s):  
Dong-Won Ahn

Primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC) are immune-mediated chronic liver diseases. PSC is a rare disorder characterized by multi-focal bile duct strictures and progressive liver diseases, in which liver transplantation is required ultimately in most patients. Imaging studies such as magnetic resonance cholangiopancreatography have important role in diagnosis in most cases of PSC. PSC is usually accompanied by inflammatory bowel disease and there is a high risk of cholangiocarcinoma and colorectal cancer in PSC. No medical therapies have been proven to delay progression of PSC. Endoscopic intervention for tissue diagnosis or biliary drainage is frequently required in cases of PSC with dominant stricture, acute cholangitis, or clinically suspected cholangiocarcinoma. PBC is a chronic inflammatory autoimmune cholestatic liver disease, which when untreated will culminate in endstage biliary cirrhosis requiring liver transplantation. Diagnosis is usually based on the presence of serum liver tests indicative of a cholestatic hepatitis in association with circulating antimitochondrial antibodies. Patient presentation and course can be diverse in PBC and risk stratification is important to ensure all patients receive a personalised approach to their care. Medical therapy using ursodeoxycholic acid (UDCA) or obeticholic acid (OCA) has an important role to reduce the progression to end-stage liver disease in PBC.


Hepatology ◽  
1997 ◽  
Vol 25 (3) ◽  
pp. 672-677 ◽  
Author(s):  
P Ricci ◽  
T M Therneau ◽  
M Malinchoc ◽  
J T Benson ◽  
J L Petz ◽  
...  

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