Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature.

Background: Deoxyguanosine kinase (DGUOK) deficiency is a rare mitochondrial disorder characterized by early onset liver failure and varying degrees of neurologic dysfunction. Patients typically present during infancy with progressive hepatic dysfunction leading to liver failure, which can precede neurologic deterioration. Outcomes posttransplantation are historically worse than average and the role of liver transplantation remains controversial.

Clinical Data Do Not Reliably Predict Duodenal Histology at Follow-up in Celiac Disease: A 13 Center Correlative Study.

Validated nonbiopsy methods to assure duodenal mucosal healing in celiac disease are lacking, yet ongoing mucosal injury is associated with anemia, osteoporosis, and lymphoma. Most providers utilize clinical data as surrogates of mucosal status to avoid additional esophagogastroduodenoscopy. The reliability of such surrogates to predict mucosal recovery has been incompletely evaluated.

A tip-predominant distribution of villous intraepithelial lymphocytes is not specific to celiac disease in children with Marsh I lesions.

Objectives: To assess if the distribution of villous intraepithelial lymphocytes (IELs) in a pediatric cohort with Marsh I histopathology is specific to celiac disease (CeD).

Methods: Multicenter, retrospective case-control study between January 2001 and December 2019 in children (<18 years) with and without CeD with intraepithelial lymphocytosis and normal villous architecture. Pathology specimens were reviewed by 2 study pathologists who were blinded to the final diagnosis.

Computer-Based Natural Language Search Applied to the Electronic Medical Record for Tonsil Triage.

Objectives: To determine significant histologic findings in tonsils and categorize clinical settings in which they occur to identify cases benefiting from histopathologic examination using a computer-based natural language search (NLS) applied to the electronic medical record.

Methods: The pathology database was queried for tonsillectomy cases accessioned between 2002 and 2018. Tonsils with microscopic examination were reviewed, and indication for examination and diagnoses were tallied.

Latent Tuberculosis Infection Treatment Outcomes in an At-Risk Underserved Population in Rhode Island.

Objectives: Within the United States (US), significant racial and ethnic disparities exist in the rates of latent TB infection (LTBI) and active TB disease. A disproportionate number of TB disease cases result from untreated LTBI among individuals born outside the US. This study evaluates LTBI treatment outcomes among an underserved, at-risk population in Rhode Island.

To DGP-IgG or not? a comparison of TTG-IgA and DGP-IgG.

Background: We assessed the diagnostic utility of deamidated gliadin peptide immunoglobulin G (DGP-IgG) in pediatric patients without immunoglobulin A deficiency who underwent tissue transglutaminase immunoglobulin A (TTG-IgA) screening and biopsy.

Methods: Patients who had TTG-IgA performed in our laboratory had sample frozen over 1.5 y.

Enteric Endocrinopathy: A Rare Case of Pediatric Congenital Diarrhea and Diabetes Mellitus.

Disorders of intestinal enteroendocrine cells (EEC) are a rare cause of congenital diarrhea and diabetes. The gene is essential in EEC differentiation, and mutations in this gene lead to a paucity of EEC in the intestine and pancreas, often presenting clinically as congenital diarrhea and diabetes mellitus. We present the earliest known diagnosis of -associated enteric endocrinopathy, which was identified on a neonatal diabetes genetic panel sent at 4 weeks of age.

COVID-19 Vaccine Concerns and Acceptability by Language in a Marginalized Population in Rhode Island.

Introduction: We need to understand the continued concerns and acceptability of COVID-19 vaccines within marginalized communities in the United States. Our study explores the concerns and acceptability of COVID-19 vaccines, by language group, at a Federally Qualified Health Center (FQHC) in Rhode Island.

Methods: We conducted an exploratory, mixed data collection telephone survey in languages spoken in the community (Spanish, Cape Verdean (CV) Creole/Portuguese, and English).

Congenital Cytomegalovirus and Hepatic Failure: An Underrecognized Complication.

Congenital cytomegalovirus infection is the most common congenital infection. Although most infants with congenital cytomegalovirus infection are asymptomatic at birth, a subset will have readily apparent clinical and/or laboratory manifestations including hepatitis; progression to hepatic failure has not previously been described in term infants who initiated antiviral treatment shortly after birth. We present 2 term infants with congenital cytomegalovirus infection and hepatitis who progressed to hepatic failure despite initial laboratory improvement on therapy.

Evaluation of BioPlex 2200 tTG-IgA Diagnostic Performance for Serology-Based Diagnosis of Celiac Disease.

Objectives: Forgoing biopsy for the diagnosis of celiac disease in children with tissue transglutaminase immunoglobulin A (tTG-IgA) levels greater than or equal to 10 times the upper limit of normal (≥10×ULN) has been advocated by the European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Methods: Our retrospective study tested the specificity and positive predictive value (PPV) of the BioPlex 2200 assay (Bio-Rad Laboratories) in diagnosing celiac disease at the ≥10×ULN tTG-IgA threshold, which is ≥150 U/mL (negative <15 U/mL). We used the tTG-IgA and duodenal biopsy results within 6 months following tTG-IgA measurements from 542 patients who had any number of duodenal biopsy fragments, of whom 165 patients had 5 or more tissue fragments.

Progressive Preretinal Fibrosis with Late, Ossifying, Proliferative Retinopathy following Treatment for Retinoblastoma.

We report a case of retinal atrophy and progressive preretinal fibrosis in an eye previously treated with intravenous and intra-arterial chemotherapy (IAC), which evolved immediately after treatment with intravitreal injection of melphalan. The atrophy and fibrosis progressed later to proliferative retinopathy with dystrophic ossification. The patient was originally diagnosed with bilateral retinoblastoma at 4 months of age and was treated with systemic chemotherapy followed by IAC.

Is Endoscopic Assessment of the Esophagus and Stomach Enough to Determine the Need for Biopsy at These Sites in Pediatric Patients Undergoing Endoscopy for Elevated TTG?

Objectives: The goal of our study was to determine whether visual assessment of the esophagus and stomach could predict abnormal histology and determine the frequency of interventions based on biopsies in patients undergoing endoscopy for elevated tissue transglutaminase immunoglobulin A antibody (TTG).

Methods: Pathology records were searched for patients with biopsy performed for elevated TTG. Pathology report, endoscopy report, and follow-up were obtained and slides from the duodenum reviewed.

Late graft loss after intestinal transplantation.

Purpose Of Review: Despite improvement in short-term outcomes after intestinal transplantation in the last 20 years, long-term rates of graft attrition and patient survival remain unchanged, with worse outcomes compared with other solid organ transplants. This review investigates the multiple causes of late graft loss, including chronic rejection, infection, graft-versus-host disease, posttransplant lymphoproliferative disorder and postsurgical complications.

Recent Findings: New insights into immunology of the intestine and evolution of immunosuppression, as well as review of current persistent causes of late graft loss, shed light on findings that may help improve long-term intestinal allograft survival.

Pediatric biliary disorders: Multimodality imaging evaluation with clinicopathologic correlation.

The spectrum of pathologies affecting the biliary tree in the pediatric population varies depending on the age of presentation. While in utero insults can result in an array of anatomic variants and congenital anomalies in newborns, diverse acquired biliary pathologies are observed in older children. These acquired pathologies display different presentations and consequences than adults.

Hepatopulmonary Syndrome in an Adolescent With Insidious Hypoxia and Small Intrahepatic Portal Venous Shunts: Posttransplant Benefit From Sildenafil.

We report a patient without known preexisting liver disease who presented with hepatopulmonary syndrome (HPS) due to aberrant intrahepatic portal venous development leading to portosystemic shunting. Liver transplantation resulted in resolution of portal hypertension and HPS and sildenafil was safely tolerated in the treatment of persistent fatigue and hypoxemia. Twelve months later, patient has normal allograft function and has returned to normal activity.

Do Histologic Features Help Predict Colectomy in Pediatric Patients Presenting With Acute Severe Colitis?

Background: Multiple prior studies have looked at clinical and laboratory parameters in ulcerative colitis to predict prognosis, but individual histologic features of inflammation and their prognostic significance have not been well studied. The purpose of our study was to determine whether histologic features at presentation with acute severe colitis predict colectomy in pediatric patients.

Methods: Patients were identified retrospectively through the gastroenterology and pathology databases.

Respiratory infections and chronic cough due to triple A (Allgrove) syndrome.

Cough and respiratory infections are common in pediatrics. Our case report illustrates the need for pediatricians to consider rare diagnoses such as genetic syndromes and primary gastrointestinal motility disorders in patients with unremitting respiratory and gastrointestinal symptoms. Early identification provides early intervention and reduces long-term morbidity for pediatric patients.

Effects of Tumor Necrosis Factor Alpha Inhibitors on Lymph Node and Ileocecal Mucosa-Associated Lymphoid Tissue Architecture in Patients With Inflammatory Bowel Disease.

Background: Antitumor necrosis alpha (TNFα) therapy is often used in the management of patients with inflammatory bowel disease (IBD) and may have effects on lymphoid tissue architecture and function. The goal of our study was to characterize the effects of TNFα inhibitors on mesenteric lymph node and mucosa-associated lymphoid tissue in patients with IBD.

Methods: We examined lymphoid tissue morphology in IBD patients treated with TNFα inhibitors compared to untreated controls.

Clinical and Histopathologic Predictors of Disaccharidase Deficiency in Duodenal Biopsy Specimens.

Objectives: Disaccharidase (DS) activity in duodenal biopsy specimens is the gold standard for diagnosing DS deficiency. We investigated strategies to reduce the need for DS testing and whether clinical or histopathologic factors predict DS deficiency.

Methods: A retrospective chart review analyzed 1,678 DS results in children, biopsy indication(s), and duodenal histopathology.

Deamidated gliadin peptide in pediatric patients with moderately increased tissue transglutaminase; does it help?

Background: Deamidated gliadin peptide (DGP) is a relatively new serologic assay used in diagnosis and monitoring of celiac disease. DGP IgG is recommended by some in pediatric patients <2 y. Use in other pediatric populations is not well established.

Correlation of Endoscopic and Histologic Severity Scores in Pediatric Ulcerative Colitis at First Presentation.

Detailed histologic scoring systems have been developed for the assessment of disease activity in ulcerative colitis. Literature from adult patients has shown some correlation between endoscopy and histology, and reproducibility of histologic scoring systems has also been supported. The effectiveness of endoscopic appearance at predicting histologic scores in pediatric patients has not been well studied, and none of the histologic scoring systems used in adults have had interobserver reproducibility assessed in pediatric patients.

Evaluation of the Utility of Bone Marrow Morphology and Ancillary Studies in Pediatric Patients Under Surveillance for Myelodysplastic Syndrome.

Objectives: To evaluate the utility of flow cytometry, karyotype, and a fluorescence in situ hybridization (FISH) panel in screening children for myelodysplastic syndrome (MDS).

Methods: Bone marrow morphology, flow cytometry, karyotype, and FISH reports from 595 bone marrow specimens (246 patients) were analyzed.

Results: By morphology, 8.

Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report.

Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma.

Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.

Crigler-Najjar syndrome is a hereditary unconjugated hyperbilirubinemia. Two forms of the disease are recognized. Type I is more severe and results in kernicterus if left untreated, and Type II is less severe and responds to phenobarbital.