The current state of gastrointestinal motility evaluation in cystic fibrosis: a comprehensive literature review.

Background And Objective: As life expectancy in cystic fibrosis (CF) has increased over the years, a shift in focus toward extra-pulmonary comorbidities such as gastrointestinal (GI) disease has become a topic of particular importance. Although not well-defined in the current literature, GI dysmotility is thought to significantly contribute to GI symptomatology in the CF population. The objective of this article was to provide a comprehensive review of diagnostic modalities at the disposal of the clinician in the evaluation of patients with CF (pwCF) presenting with GI complaints.

Neurogastroenterology and Motility Disorders of the Gastrointestinal Tract in Cystic Fibrosis.

Purpose Of Review: To discuss all the various motility disorders impacting people with Cystic Fibrosis (PwCF) and provide diagnostic and management approaches from a group of pediatric and adult CF and motility experts and physiologists with experience in the management of this disease.

Recent Findings: Gastrointestinal (GI) symptoms coexist with pulmonary symptoms in PwCF regardless of age and sex. The GI manifestations include gastroesophageal reflux disease, esophageal dysmotility gastroparesis, small bowel dysmotility, small intestinal bacterial overgrowth syndrome, distal idiopathic obstruction syndrome, constipation, and pelvic floor disorders.

Pediatric Neurogastroenterology and Motility Disorders: What Role Does Endoscopy Play?

Although pediatric neurogastroenterology and motility (PNGM) disorders are prevalent, often debilitating, and remain challenging to diagnose and treat, this field has made remarkable progress in the last decade. Diagnostic and therapeutic gastrointestinal endoscopy emerged as a valuable tool in the management of PNGM disorders. Novel modalities such as functional lumen imaging probe, per-oral endoscopic myotomy, gastric-POEM, and electrocautery incisional therapy have changed the diagnostic and therapeutic landscape of PNGM.

A Challenging Case of the Forgotten Abdominal Tuberculosis in the Developed World.

Differentiating abdominal tuberculosis (TB) from Crohn's disease (CD) despite the rarity of the condition remains vital to avoid catastrophic consequences of disseminated miliary TB as a result of mistakenly starting an immunosuppressive medication. We highlight a challenging pediatric abdominal TB case of a 5-year-old male that presented with failure to thrive, ascites, and diarrhea. Our case aims to shed light on a forgotten disease in our developed world by highlighting subtle clinical, endoscopic, and histologic features.

Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts.

Background: Mucopolysaccharidosis IVA (Morquio A syndrome) is a lysosomal storage disease caused by the deficiency of enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which results in the accumulation of the glycosaminoglycans (GAGs), keratan sulfate, and chondroitin-6-sulfate in the lysosomes of all tissues causing systemic dysfunction. Current treatments include enzyme replacement therapy (ERT) which can treat only certain aspects of the disease such as endurance-related biological endpoints. A key challenge in ERT is ineffective enzyme uptake in avascular tissues, which makes the treatment of the corneal, cartilage, and heart valvular tissue difficult.

Proceedings of the 2017 ASPEN Research Workshop-Gastric Bypass: Role of the Gut.

The goal of the National Institutes of Health-funded American Society for Parenteral and Enteral Nutrition 2017 research workshop (RW) "Gastric Bypass: Role of the Gut" was to focus on the exciting research evaluating gut-derived signals in modulating outcomes after bariatric surgery. Although gastric bypass surgery has undoubted positive effects, the mechanistic basis of improved outcomes cannot be solely explained by caloric restriction. Emerging data suggest that bile acid metabolic pathways, luminal contents, energy balance, gut mucosal integrity, as well as the gut microbiota are significantly modulated after bariatric surgery and may be responsible for the variable outcomes, each of which was rigorously evaluated.

Critical Care Interventions for Asthmatic Patients Admitted From the Emergency Department to the Pediatric Intensive Care Unit.

Objectives: The aim of this study was to assess the frequency and predictors of critical interventions in asthmatic patients admitted to the pediatric intensive care unit (PICU) at a tertiary-care pediatric hospital.

Methods: We conducted a retrospective chart review of patients admitted from our emergency department (ED) to the PICU for treatment of status asthmaticus between January 1, 2008, and March 31, 2013. Patients with concomitant medical conditions and those who received a critical intervention, other than continuously aerosolized albuterol, in the ED before admission were excluded.

Screening residents for infant lumbar puncture readiness with just-in-time simulation-based assessments.

Background: Determining when to entrust trainees to perform procedures is fundamental to patient safety and competency development.

Objective: To determine whether simulation-based readiness assessments of first year residents immediately prior to their first supervised infant lumbar punctures (LPs) are associated with success.

Methods: This prospective cohort study enrolled paediatric and other first year residents who perform LPs at 35 academic hospitals from 2012 to 2014.

Developing tailored positive parenting messages for a clinic-based communication programme.

Background: Health care providers fill a central role in the prevention of both child abuse and neglect (CA/N) and unintentional childhood injury. Health communication interventions hold promise for promoting attitudes and behaviours among parents that increase positive parenting practices, which may be linked to decreased rates of intentional and unintentional childhood injuries. This manuscript describes the development of 'RISE Up', an ambulatory clinic-based childhood injury prevention programme that provides tailored, injury prevention print materials to parents of children ages 0-5.

Prevalence of Retinal Hemorrhages in Infants Presenting with Isolated Long Bone Fractures and Evaluation for Abuse.

Background: Fractures are a frequent reason for emergency department visits and evaluation for abusive head trauma is an associated concern in infants. Recent guidelines have suggested that retinal examination may not be necessary in the absence of intracranial injury, but there is a lack of empirical evidence in infants < 1 year of age.

Objective: Our aim was to evaluate the prevalence of retinal hemorrhages in infants with isolated long bone fractures.

The Correlation of Workplace Simulation-Based Assessments With Interns' Infant Lumbar Puncture Success: A Prospective, Multicenter, Observational Study.

Introduction: Little data are available to guide supervisors' decisions regarding when trainees are prepared to safely perform their first procedure on a patient. We aimed to describe the correlation of simulation-based assessments, in the workplace, with interns' first clinical infant lumbar puncture (ILP) success.

Methods: This is a prospective, observational subcomponent of a larger study of incoming interns at 33 academic medical centers (July 2010 to June 2012) assessing the impact of just-in-time training.

Improvements in Cystic Fibrosis Quarterly Visits, Lung Function Tests, and Respiratory Cultures.

Background: The Cystic Fibrosis (CF) Foundation recommends patients attend clinic ≥4 times per year with 4 respiratory cultures and 2 pulmonary function tests (PFTs). However, nationally only 57.4% of patients met these guidelines in 2012.

Feasibility and Perception of Using Text Messages as an Adjunct Therapy for Low-Income, Minority Mothers With Postpartum Depression.

Background: Postpartum depression (PPD) is the most common medical problem among new mothers that can have a negative impact on infant health. Traditional treatments are often difficult for low-income mothers to complete, particularly given the numerous barriers families face.

Objective: Among low-income, primarily racial, and ethnic minority mothers with postpartum depression, our aim was to evaluate (1) the feasibility of sending supportive text messages, and (2) the perception of receiving private, supportive text messages for postpartum depression.

The genomic landscape of juvenile myelomonocytic leukemia.

Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 or CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and could therefore be candidates for experimental therapies. In addition, few molecular pathways aside from the RAS-MAPK pathway have been identified that could serve as the basis for such novel therapeutic strategies.

Otolaryngologic surgery in children with trisomy 18 and 13.

Objectives: Trisomy 18 and 13 are the most common autosomal trisomy disorders after Down syndrome. Given the high mortality rate (5-10% one-year survival), trisomy 18 and 13 were historically characterized as uniformly lethal and palliation was the predominant management approach. Management strategy has shifted with recognition that through medical and surgical intervention, children with trisomy 18 and 13 can achieve developmental milestones, live meaningful lives, and exhibit long-term survival.

A systematic review of neuropsychological outcomes following posterior fossa tumor surgery in children.

Purpose: Central nervous system tumors are the most common solid tumors in the pediatric population. As children with central nervous system (CNS) tumors are surviving into adolescence and adulthood, more research is being focused on the long-term cognitive outcomes of the survivors. This review examines the literature on different cognitive outcomes of survivors of different childhood posterior fossa CNS tumor types.

Cryptic insertion of 3'FOXO1 into inverted chromosome arm 2q in the presence of two normal chromosome 13s and 13 small interstitial duplications in a patient with alveolar rhabdomyosarcoma.

Alveolar rhabdomyosarcoma (ARMS) is a pediatric soft tissue neoplasm with a characteristic translocation, t(2;13)(q35;q14), which is detected in 70-80% of cases. This well-described translocation produces the gene fusion product PAX3-FOXO1. Cryptic rearrangements of this fusion have never before been reported in ARMS.

Progress toward curing HIV infection with hematopoietic cell transplantation.

HIV-1 infection afflicts more than 35 million people worldwide, according to 2014 estimates from the World Health Organization. For those individuals who have access to antiretroviral therapy, these drugs can effectively suppress, but not cure, HIV-1 infection. Indeed, the only documented case for an HIV/AIDS cure was a patient with HIV-1 and acute myeloid leukemia who received allogeneic hematopoietic cell transplantation (HCT) from a graft that carried the HIV-resistant CCR5-∆32/∆32 mutation.

Fabry disease in infancy and early childhood: a systematic literature review.

Purpose: Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood.

ABL1 gene involvement within a complex three-way translocation (2;9;4) in perineurioma characterized by molecular cytogenetic methods.

Perineuriomas are rare peripheral nerve sheath tumors with one or few chromosomal rearrangements or numerical changes. Two main types and three subtypes have been defined but with few specific genetic associations. Chromosome 10 aberrations have been found in three cases of the sclerosing perineurioma subtype.