Vitamin D3 and deconvoluting a rash.

BACKGROUNDAdverse drug reactions are unpredictable immunologic events presenting frequent challenges to clinical management. Systemically administered cholecalciferol (vitamin D3) has immunomodulatory properties. In this randomized, double-blinded, placebo-controlled interventional trial of healthy human adults, we investigated the clinical and molecular immunomodulatory effects of a single high dose of oral vitamin D3 on an experimentally induced chemical rash.

Incorporation of Telehealth Into Multidisciplinary Clinics: Visits Via Video Offer Advantages for Team and Families.

Shelter in place orders in the coronavirus disease 2019 (COVID-19) pandemic necessitate changes in how medical care is delivered. We describe our method for team telemedicine visits for California Children's Services, a state insurance for children requiring multidisciplinary care, to demonstrate how such visits can be efficiently conducted. Although the physical distance provides some obstacles, telemedicine visits can also improve some elements of the team visit.

Cutaneous Chronic Graft Versus Host Disease in a Symmetric Distribution.

Graft-versus-host disease (GVHD) is a common complication following patients who have undergone allogenic hematopoietic stem cell transplantation (allo-HSCT). While GVHD has been previously sub-categorized through a temporal relationship upon transplantation, revisions from the National Institutes of Health have modified the diagnosis criteria to be more involved with specific signs and symptoms. Chronic classifications of GVHD include non-sclerotic and sclerotic forms, and the sclerotic form can be further classified based on morphologies such as lichen-sclerosis-like, sclerodermoid or morphea-like plaques.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis.

Aquagenic urticaria: diagnostic and management challenges.

Aquagenic urticaria (AU) is a rare inducible form of physical urticaria, which occurs in response to cutaneous exposure to water, including sweat and tears. Patients present with characteristic 1-3 mm folliculocentric wheals with surrounding 1-3 cm erythematous flares within 20-30 minutes following skin contact with water. In rare cases, there are concomitant systemic symptoms, such as wheezing or shortness of breath.

Challenges in meeting fellowship procedural guidelines in pediatric therapeutic endoscopy and liver biopsy.

Objective: The aims of this study were to assess the opportunities for therapeutic endoscopy, liver biopsies, and percutaneous endoscopic gastrostomy (PEG) placements available to fellows during a 3-year pediatric gastroenterology fellowship, and to evaluate access to ancillary procedural-training opportunities.

Methods: Data were collected from 12 pediatric gastroenterology fellowship programs in the United States. Procedures completed in the years 2009-2011 were queried using CPT codes and endoscopy databases.

Early volume expansion during diarrhea and relative nephroprotection during subsequent hemolytic uremic syndrome.

Objectives: To determine if interventions during the pre-hemolytic uremic syndrome (HUS) diarrhea phase are associated with maintenance of urine output during HUS.

Design: Prospective observational cohort study.

Settings: Eleven pediatric hospitals in the United States and Scotland.

Deer sausage: a newly identified vehicle of transmission of Escherichia coli O157:H7.

Five Missouri patients infected with Escherichia coli O157:H7 were studied for an epidemiologically plausible association. Case isolates, case interviews, and pathogen and meat XbaI pulsed field electrophoresis patterns were consistent with the common source being contaminated, fermented deer sausage, a previously unrecognized mode of transmission for Escherichia coli O157:H7.

Laboratory values for children with newly diagnosed inflammatory bowel disease.

Objective: The goal was to determine how often common laboratory tests yield normal results at the time of diagnosis for children with inflammatory bowel disease.

Methods: Data were obtained from a registry of children with newly diagnosed inflammatory bowel disease who were enrolled prospectively in 18 US/Canadian centers. Laboratory values investigated included hemoglobin level, platelet count, albumin level, and erythrocyte sedimentation rate.

Health-related quality of life in the first year after a diagnosis of pediatric inflammatory bowel disease.

Background And Aims: Assessment of health-related quality of life (HRQOL) is of increasing importance in the evaluation of new therapies for inflammatory bowel disease (IBD). Available data concerning HRQOL in pediatric patients are sparse and uniformly cross-sectional. The aim of this study was to describe HRQOL and influential factors in newly diagnosed pediatric patients with Crohn's disease and ulcerative colitis during the first 12 months after diagnosis.

Corticosteroid therapy in the age of infliximab: acute and 1-year outcomes in newly diagnosed children with Crohn's disease.

Background & Aims: The aim of this study was to describe 3-month and 1-year outcomes of children with Crohn's disease (CD) treated with corticosteroids within 30 days of diagnosis, with particular emphasis on the influence of infliximab on these outcomes. We also aimed to determine whether there are clinical or laboratory characteristics associated with corticosteroid therapy outcomes.

Methods: Data from 109 children were drawn from a multicenter observational registry that was started in 2002.

The natural history of corticosteroid therapy for ulcerative colitis in children.

Background & Aims: The aim of this study was to determine the clinical outcome after corticosteroid therapy in children who are newly diagnosed with ulcerative colitis (UC).

Methods: Data were gathered prospectively from the Pediatric Inflammatory Bowel Disease Collaborative Research Group Registry database between January 2002 and March 2005. All children who were newly diagnosed with inflammatory bowel disease younger than the age of 16 years were managed according to the dictates of their respective physicians.

Evaluation of the pediatric crohn disease activity index: a prospective multicenter experience.

Background And Objectives: Longitudinal assessment of disease activity is necessary for studies of therapeutic intervention in children with Crohn disease. The Pediatric Crohn Disease Activity Index (PCDAI) was developed a decade ago for such a purpose, but it function has only been examined in a small number of studies with a limited number of patients. The primary objectives of the present study were to develop cut scores reflecting disease activity as determined by physician global assessment (PGA) and to evaluate the responsiveness of the PCDAI to changes in patient condition after therapeutic interventions.

Integrating social and ethics-based aspects of medicine into physician education.

Ethics plays an important, formative role in medical education, stimulating the transformation of a physiologist-scientist into a compassionate and competent clinician. Our clinical ethics program challenges students to observe and recognize inherent value conflicts and understand how such issues must be resolved in their day-to-day work. Advances in biomedical research that hold potential to enhance human health and treat disease are provoking controversial questions of current practices in medical ethics and spawning new, unprecedented ethical dilemmas.

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS.