Publications by authors named "James P Stevens"

9 Publications

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Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation.

Pediatr Transplant 2021 Nov 20;25(7):e14084. Epub 2021 Jul 20.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.

Background: Pediatric acute liver failure (PALF) remains an enigmatic process of rapid end-organ dysfunction associated with a variety of pathologic conditions though the predominant cause is indeterminate. A growing body of research has identified mutations in the NBAS gene to be associated with recurrent acute liver failure and multi-systemic disease including short stature, skeletal dysplasia, facial dysmorphism, immunologic abnormalities, and Pelger-Huët anomaly.

Methods And Results: Here, we describe a 4-year-old girl who presented with dehydration in the setting of acute gastroenteritis and fever but went on to develop PALF on day 2 of hospitalization. She clinically recovered with supportive measures, but after discharge, had at least 2 additional episodes of PALF. Ultimately, she underwent liver transplant and her recurrent episodes of PALF did not recur throughout a 6-year follow-up period. Whole-exome sequencing post-liver transplant initially revealed two variants of uncertain significance in the NBAS gene. Parental studies confirmed the c.1549C > T(p.R517C; now likely pathogenic) variant from her mother and a novel c.4646T > C(p.L1549P) variant from her father. In silico analyses predicted these variants to have a deleterious effect on protein function. Consistent with previously characterized NBAS mutation-associated disease (NMAD), our patient demonstrated the following features: progeroid facial features, hypoplasia of the 12th ribs, Pelger-Huët anomaly on peripheral blood smear, and abnormal B and NK cell function.

Conclusion: Altogether, we describe a novel pathogenic variant in the NBAS gene of a patient with NMAD and report the resolution of recurrent PALF secondary to NMAD following liver transplantation.
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http://dx.doi.org/10.1111/petr.14084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515489PMC
November 2021

Development and repair of aorto-esophageal fistula following esophageal button battery impaction: A case report.

J Pediatr Surg Case Rep 2021 Mar 7;66. Epub 2021 Jan 7.

Pediatric Radiology, Children's Healthcare of Atlanta, Atlanta, GA, USA.

Background: Complications from esophageal button battery impactions remain a real fear for practicing pediatric gastroenterologists and surgeons. This case describes a child who developed an aorto-esophageal fistula 25 days after initial battery ingestion and survived due to prompt placement of an aortic stent via minimally invasive surgery, avoiding an open procedure.

Case Presentation: A 6-year-old female presented acutely with a mid-esophageal button battery impaction witnessed by her parents. Presenting symptoms included chest pain and emesis. Button battery location and size were confirmed on X-ray. She underwent removal with flexible esophagogastroduodenoscopy (EGD) and rigid esophagoscopy. She was admitted to the hospital and received conservative medical management, with serial cross-sectional imaging via chest MRIs to assess the evolution of her injury according to available national guidelines, and was discharged after 12 days of close inpatient monitoring. Despite these measures the patient represented 25 days post-ingestion with hematemesis from a new aorto-esophageal fistula, requiring emergent cardiac catheterization with successful, life-saving aortic stent placement. She remained admitted for an additional 12 days of monitoring as her diet was advanced slowly post-catheterization. Since this second hospitalization she continues to do well, with outpatient follow-up by multiple subspecialists.

Conclusions: This case highlights the continued uncertainty regarding the risk of developing this complication, as well as gaps in the current literature and guidelines for managing these patients following ingestion and esophageal injury. It also details the unique course following development of this complication and its surgical repair.
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http://dx.doi.org/10.1016/j.epsc.2021.101782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990103PMC
March 2021

African American Pediatric Liver Transplant Recipients Have an Increased Risk of Death After Transferring to Adult Healthcare.

J Pediatr 2021 06 3;233:119-125.e1. Epub 2021 Mar 3.

Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Transplant services, Children's Healthcare of Atlanta, Atlanta, GA. Electronic address:

Objective: To analyze the long-term outcomes in pediatric liver transplant recipients after they have transferred to an adult provider and assess for racial disparities in health outcomes.

Study Design: This is a single-center, retrospective review of pediatric patients who underwent liver transplantation between July 1990 and August 2015 at a tertiary healthcare system with a large transplant center. Patient mortality and retransplantation were assessed after transfer to adult care.

Results: There were 120 patients who were transferred, of whom 19 did not meet the inclusion criteria. Of the remaining 101 patients, 64 (63%) transferred care to a nearby affiliated tertiary adult facility, 29 (29%) were followed by other healthcare systems, and 8 (8%) were lost to follow-up. Of the patients followed at our affiliated adult center, 18 of the 64 (28%) died. Of those 18 deaths, 4 (22%) occurred within the first 2 years after transfer, and 10 (55%) within 5 years of transfer. Four patients were retransplanted by an adult provider, of whom 2 eventually received a third transplant. African Americans had higher rates of death after transfer than patients of other races (44% mortality vs 16%, representing 67% of all cases of death; P = .032), with nearly 50% mortality at 20 years from time of transplantation.

Conclusions: Death is common in pediatric liver transplant recipients after transfer to adult care, with African Americans having disproportionately higher mortality. This period of transition of care is a vulnerable time, and measures must be taken to ensure the safe transfer of young adults with chronic health care needs.
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http://dx.doi.org/10.1016/j.jpeds.2021.02.069DOI Listing
June 2021

TRANSITION of Pediatric Liver Transplant Patients to Adult Care: a Review.

Curr Gastroenterol Rep 2021 Jan 29;23(3). Epub 2021 Jan 29.

Department of Pediatrics, Division of Gastronterology, Hepatology and Nutrition, Emory University School of Medicine, Atlanta, GA, USA.

Purpose Of Review: Many pediatric liver transplant patients are surviving to adulthood, and providers have come to recognize the importance of effectively transitioning these patients to an adult hepatologist. The review aims to analyze the most recent literature regarding patient outcomes after transition, barriers to successful transition, recommendations from clinicians and medical societies regarding transition programs, and to provide personal insights from our experience in transitioning liver transplant recipients.

Recent Findings: While results were variable between studies, many recent reports show significant morbidity and mortality in patients following transition to adult care. Medical non-adherence is frequently seen in adolescents and young adults both prior to and after transition, and is consistently associated with higher rates of rejection, graft loss, and death. In general, transplant programs with a formal transition process had better patient outcomes though recent findings are mostly-single center and direct comparison between programs is difficult. Societal recommendations for how to create a transition program contain a number of common themes that we have categorized for easier understanding. Successful transition is vital to the continued health of pediatric liver transplant patients. While an effective transition program includes a number of key components, it should be individualized to best function within a given transplant center. Here, we have reviewed a number of recent single-center retrospective studies on transition, but multi-site retrospective or prospective data is lacking, and is a fertile area for future research.
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http://dx.doi.org/10.1007/s11894-020-00802-1DOI Listing
January 2021

COVID-19-associated Multisystem Inflammatory Syndrome in Children Presenting as Acute Pancreatitis.

J Pediatr Gastroenterol Nutr 2020 11;71(5):669-671

Children's Healthcare of Atlanta, Division of Gastroenterology, Hepatology and Nutrition Atlanta, GA.

In April 2020, a newly recognized pediatric disorder associated with COVID-19 characterized by significant inflammation with symptoms resembling Kawasaki disease was described by medical teams in the United States, the United Kingdom, and Italy. Before these reports, data from the initial COVID-19 outbreaks in China had not found the virus to cause significant morbidity or mortality in children. To date, pancreatitis has not yet been reported in either acute SARS-CoV-2 infection in children or the subsequent inflammatory syndrome. We describe a patient who presented with acute pancreatitis before rapidly progressing to multisystem organ dysfunction consistent with multisystem inflammatory syndrome in children due to COVID-19. Clinicians should be aware that in the context of the COVID-19 pandemic, pancreatitis can be an early presentation of multisystem inflammatory syndrome in children.
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http://dx.doi.org/10.1097/MPG.0000000000002860DOI Listing
November 2020

Performance of Interferon-gamma Release Assays for Tuberculosis Screening in Pediatric Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr 2019 12;69(6):e162

Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Emory University School of Medicine.

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http://dx.doi.org/10.1097/MPG.0000000000002501DOI Listing
December 2019

Performance of Interferon-Gamma Release Assays for Tuberculosis Screening in Pediatric Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr 2019 10;69(4):e111-e116

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine.

Objectives: The aim of the study was to analyze the diagnostic accuracy and utility of QuantiFERON-TB Gold In-Tube, an interferon-gamma release assay (IGRA), as a screening tool for latent tuberculosis infection (LTBI) in pediatric patients with inflammatory bowel disease (IBD) undergoing treatment with anti-tumor necrosis factor (anti-TNF) medications. To describe cases of tuberculosis in the pediatric IBD population, TB treatment courses, outcomes, and their effect on IBD management.

Methods: A single-center, retrospective cohort study of pediatric IBD patients who underwent tuberculosis screening. IGRA testing from 2011 to 2017 were analyzed to determine result rates, characteristics, and outcomes.

Results: One thousand seven hundred fifty-four (1,754) tests were performed on 859 patients. One thousand six hundred thirty-four (1,634) tests were negative, 9 were positive, and 111 were indeterminate. Eight of 9 positive tests resulted during repeat annual screening while receiving IBD treatment. Five patients were treated for latent tuberculosis infection (LTBI), and 4 were false-positives. IBD therapy was interrupted in 3 patients, with no negative long-term outcomes. We report 1 known false-negative, in a patient who developed disseminated TB on anti-TNF therapy. Indeterminate testing rates were higher at IBD diagnosis than during treatment (10.3% vs 5.3%, P < 0.001). Follow-up testing of indeterminate results was negative in all patients retested, with 14 patients lost to follow-up. No patient with indeterminate testing developed TB.

Conclusions: IGRAs are a useful tool to screen for LTBI, both before anti-TNF therapy and during treatment. Results should be used in concert with detailed history and examination. Positive and indeterminate results should be promptly repeated for timely TB diagnosis and to minimize interruptions in IBD therapy.
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http://dx.doi.org/10.1097/MPG.0000000000002428DOI Listing
October 2019

Serrated needle design facilitates precise round window membrane perforation.

J Biomed Mater Res A 2016 07 11;104(7):1633-7. Epub 2016 Mar 11.

Department of Otolaryngology-Head and Neck Surgery, Columbia University College of Physicians and Surgeons, New York, New York.

The round window membrane (RWM) has become the preferred route, over cochleostomy, for the introduction of cochlear implant electrodes as it minimizes inner ear trauma. However, in the absence of a tool designed for creating precise perforation, current practices lead to tearing of the RWM and significant intracochlear pressure fluctuations. On the basis of RWM mechanical properties, we have designed a multi-serrated needle to create consistent holes without membrane tearing or damaging inner ear structures. Four and eight-serrated needles were designed and produced with wire electrical discharge machining (EDM). The needle's ability to create RWM perforations was tested in deidentified, commercially acquired temporal bones with the assistance of a micromanipulator. Subsequently, specimens were imaged under light and scanning electron microscopy (SEM). The needles created consistent, appropriately sized holes in the membrane with minimal tearing. While a four-serrated crown needle made rectangular/trapezoid perforations, the octagonal crown formed smooth oval holes within the membrane. Though designed for single use, the needle tolerated repeated use without significant damage. The serrated needles formed precise perforations in the RWM while minimizing damage during cochlear implantation. The octagonal needle design created the preferred oval perforation better than the quad needle. © 2016 Wiley Periodicals, Inc. J Biomed Mater Res Part A: 104A: 1633-1637, 2016.
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http://dx.doi.org/10.1002/jbm.a.35692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508557PMC
July 2016

Silver/silver chloride microneedles can detect penetration through the round window membrane.

J Biomed Mater Res B Appl Biomater 2017 02 27;105(2):307-311. Epub 2015 Oct 27.

Department of Otolaryngology-Head and Neck Surgery, Columbia University College of Physicians and Surgeons, New York, New York.

Hypothesis: Silver-plated microneedles can be used to confirm penetration of semi-permeable membranes such as the round window membrane (RWM) by detection of voltage change at the moment of perforation.

Background: The introduction of microperforations in the RWM can significantly enhance intracochlear delivery of therapeutics. However, the moment of needle penetration through the RWM cannot be reliably detected by visualization or sensation alone. We explore the ability of electrochemical detection of penetration in defining the precise instant a microneedle enters the inner ear.

Methods: 0.2 mm diameter stainless steel Minutien pins were electroplated with copper, then silver. Pins were then soaked in bleach for 24 h to complete Ag/AgCl plating. Experiments were performed using a 3 mL Franz cell diffusion system with 1%, 2%, 3%, 4%, and 5% saline solution in the donor chamber and artificial perilymph solution in the receptor chamber separated by 5-μm pore synthetic membrane. Continuous voltage measurements were made throughout the process of membrane penetration by the microneedle (N = 6 for each saline concentration).

Results: Silver-plated needles were able to detect an instantaneous change in voltage when traversing the membrane from saline solution into artificial perilymph. As calculated, the magnitude of the change in voltage upon penetration increased with increasing saline concentration and was stable across trials.

Conclusion: Ag/AgCl coated microneedles are effective in detecting the moment of penetration across semi-permeable membranes. © 2015 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 105B: 307-311, 2017.
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http://dx.doi.org/10.1002/jbm.b.33557DOI Listing
February 2017
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