Publications by authors named "Mary Elizabeth M Tessier"

5 Publications

  • Page 1 of 1

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

J Child Neurol 2021 Apr 26:8830738211006507. Epub 2021 Apr 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.
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http://dx.doi.org/10.1177/08830738211006507DOI Listing
April 2021

The Fecal Microbiome in Infants With Biliary Atresia Associates With Bile Flow After Kasai Portoenterostomy.

J Pediatr Gastroenterol Nutr 2020 06;70(6):789-795

Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine/Texas Children's Hospital.

Background: Biliary atresia's (BA) response to surgical Kasai portoenterostomy (KP) is uneven and dependent upon bile flow; 50% of infants require a liver transplant by 24 months. We hypothesized that the microbiome may identify and associate with outcomes in BA.

Methods: Stool samples were collected from infants with cholestasis (n = 15), 8 of which with BA were followed longitudinally.16S sequencing was performed on all samples (n = 45). Whole Genome Sequencing (WGS) was performed on BA pre-KP samples (n = 8). Infants with BA, other forms of cholestasis, BA infants with very good bile flow (VGBF) and not (nVGBF) (VGBF dichotomized by TSBA <40 μmol/L by 6 months) were compared.

Results: Of the 8 infants with BA, 4 infants had VGBF. Microbial richness was inversely proportional to degree of cholestasis (P = 0.046). Increased Bifidobacterium abundance associated with VGBF (P = 0.03) and decreased cholestasis (P < 0.01) at 1 month post-KP. Pre-KP, community structure differed in infants with BA versus other cholestasis. Interestingly, infants who subsequently achieved VGBF had increased diversity (P = 0.03) and different community structure at the pre-KP time point. WGS corroborated Bifidobacterium's pre-KP importance.

Conclusions: The microbiome differs between infants with BA and other cholestasis. It additionally differs between infants with BA who have good and poor bile flow, and thus outcomes, post-KP. These differences are seen even before KP. These data suggest that bile influences the development of the infant microbiome and that there may be possible influences of the pre- and post-KP microbiome on bile flow after KP. Further larger studies are needed to confirm these findings.
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http://dx.doi.org/10.1097/MPG.0000000000002686DOI Listing
June 2020

60 Days in Biliary Atresia: A Historical Dogma Challenged.

Clin Liver Dis (Hoboken) 2020 Feb 2;15(Suppl 1):S3-S7. Epub 2020 Mar 2.

Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition Baylor College of Medicine Houston TX.

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http://dx.doi.org/10.1002/cld.843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050960PMC
February 2020

A phase 2 trial of N-Acetylcysteine in Biliary atresia after Kasai portoenterostomy.

Contemp Clin Trials Commun 2019 Sep 2;15:100370. Epub 2019 May 2.

Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Baylor College of Medicine and Texas Children's Hospital, 6621 Fannin Street, CCC 1010, Houston, TX, 77030, USA.

Background: Biliary atresia (BA) is a life-threatening liver disease of infancy, characterized by extrahepatic biliary obstruction, bile retention, and progressive liver injury. The Kasai portoenterostomy (KP) is BA's only nontransplant treatment. Its success is variable and depends on restoration of hepatic bile flow. Many adjunctive therapeutics have been studied to improve outcomes after the KP, but none demonstrate effectiveness. This study tests if N-acetylcysteine (NAC), a precursor to the choleretic glutathione, improves bile flow after KP.

Methods: This report describes the design of an open-label, single center, Phase 2 study to determine the effect of NAC following KP on markers of bile flow and outcomes in BA. The intervention is intravenous NAC (150 mg/kg/day) administered continuously for seven days starting 0-24 h after KP. The primary outcome is normalization of total serum bile acid (TSBA) concentrations within 24 weeks of KP. The secondary objectives are to describe NAC therapy's effect on other clinical parameters followed in BA for 24 months and to report adverse events occurring with therapy. This study follows the "minimax" clinical trial design.

Discussion: This is the first clinical trial to test NAC's effectiveness in improving bile flow after KP in BA. It introduces three important concepts for future BA therapeutic trials: (1) the "minimax" study design, a pertinent design for rare diseases because it detects potential effects quickly with small subject size; (2) the more sensitive bile flow marker, TSBAs, which may correlate with positive long-term outcomes better than traditional bile flow markers such as serum bilirubin; and (3) liver enzyme changes immediately after KP, which can be a guideline for potential drug-induced liver injury in other BA peri-operative adjunctive therapeutic trials.
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http://dx.doi.org/10.1016/j.conctc.2019.100370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542754PMC
September 2019

Beyond the Pediatric end-stage liver disease system: solutions for infants with biliary atresia requiring liver transplant.

World J Gastroenterol 2014 Aug;20(32):11062-8

Mary Elizabeth M Tessier, Sanjiv Harpavat, Ross W Shepherd, Girish S Hiremath, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, United States.

Biliary atresia (BA), a chronic progressive cholestatic disease of infants, is the leading cause for liver transplant in children, especially in patients under two years of age. BA can be successfully treated with the Kasai portoenterostomy; however most patients still require a liver transplant, with up to one half of BA children needing a transplant by age two. In the current pediatric end-stage liver disease system, children with BA face the risk of not receiving a liver in a safe and timely manner. In this review, we discuss a number of possible solutions to help these children. We focus on two general approaches: (1) preventing/delaying need for transplantation, by optimizing the success of the Kasai operation; and (2) expediting transplantation when needed, by performing techniques other than the standard deceased-donor, whole, ABO-matched organ transplant.
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http://dx.doi.org/10.3748/wjg.v20.i32.11062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145749PMC
August 2014