Index Admission Cholecystectomy and Recurrence of Pediatric Gallstone Pancreatitis: Multicenter Cohort Analysis.

Background: We aim to evaluate recurrence rates of gallstone pancreatitis in children undergoing early vs interval cholecystectomy.

Study Design: A multicenter, retrospective review of pediatric patients admitted with gallstone pancreatitis from 2010 through 2017 was performed. Children were evaluated based on timing of cholecystectomy.

Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay.

Objectives: The diagnosis of adrenal insufficiency relies on clear cut-offs and accurate measurement of cortisol levels. Newer monoclonal antibody assays may increase the rate of diagnosis of adrenal insufficiency if traditional cortisol cut-off levels <18 mcg/dL (500 nmol/L) are applied. We aimed to determine if the rate of diagnosis of adrenal insufficiency using a 1 mcg Cosyntropin stimulation test varied with the change in cortisol assay from a polyclonal to a monoclonal antibody assay.

The Evolution of Pediatric and Congenital Electrophysiology as a Subspecialty.

Over the past 50 years, pediatric and congenital electrophysiology has progressed from a rare subspecialty practiced at just a handful of centers to become an essential part of nearly every congenital heart program the world over. This paper traces the evolution of the subspecialty in North America by recognizing the individuals who dedicated their careers to this field and trained subsequent generations of practitioners, thereby establishing a legacy that insures continued progress in the treatment of arrhythmias for children and patients with congenital heart disease. Data were generated from a survey of the current membership of the Pediatric and Congenital Electrophysiology Society and were supplemented by review of archived Society records.

Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.

Objective: (1) Describe the progression of diabetes mellitus over time in an observational study of Wolfram syndrome, a rare, genetic, neurodegenerative disorder, which often includes diabetes mellitus and is typically diagnosed during childhood or adolescence. (2) Determine whether C-peptide could be used as a marker of diabetes progression in interventional trials for Wolfram syndrome.

Methods: N = 44 (25F/19M) participants with genetically confirmed Wolfram syndrome attended the Washington University Wolfram Research Clinic annually from 2010 to 2019.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

A recent report by Majethia and Girisha described a patient with biallelic pathogenic variants in and Wiedemann-Rautenstrauch syndrome. In this correspondence, we compare the features of this patient to that of a cohort of patients with severe POLR3-related leukodystrophy and a similar genotype and clinical course. We comment on the phenotyping and classification of POLR3-related disorders.

Use of a Risk Analytic Algorithm to Inform Weaning From Vasoactive Medication in Patients Following Pediatric Cardiac Surgery.

Objectives: Advanced clinical decision support tools, such as real-time risk analytic algorithms, show promise in assisting clinicians in making more efficient and precise decisions. These algorithms, which calculate the likelihood of a given underlying physiology or future event, have predominantly been used to identify the risk of impending clinical decompensation. There may be broader clinical applications of these models.

Ethics and multiculturalism in pediatric surgery.

The concept of culture includes many defining characteristics such race, ethnicity, gender, identity, socioeconomic status, beliefs, traditions, and habits. Multiculturalism is a concept that allows for respect, understanding and acknowledgement of a diversity of identities. The cases discussed in this manuscript indicate the importance of multiculturalism in the practice of pediatric surgery.

The ethics of informed consent and shared decision-making in pediatric surgery.

Informed consent is a required feature in the practice of pediatric surgery. Surgeons cannot practice the trade without it and most of us learned to do it as part of our "apprenticeship" in surgical training. We were bystanders when the senior resident or attending spoke to the patient and family and we were silent witnesses to the signing of the document called a "consent.

Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis.

Purpose: Autosomal recessive osteopetrosis has a variable presentation, most commonly including failure to thrive, hypocalcemia, seizures, hepatosplenomegaly, hydrocephalus, vision or hearing loss, and cytopenias. Multiple symptoms are usually seen at presentation. The variability of presentation often delays diagnosis and subsequent treatment.

Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.

We report a newborn who presented with multiple limb and facial anomalies, endocrine disorders, and progressively worsening low-GGT cholestasis. A liver biopsy revealed hepatocellular cholestasis with giant cell transformation. Immunohistochemical staining revealed complete absence of BSEP protein compared to control liver.

Intraoperative Cochlear Nerve Monitoring for Vestibular Schwannoma Resection and Simultaneous Cochlear Implantation in Neurofibromatosis Type 2: A Case Series.

Background: Neurofibromatosis type 2 (NF2) often results in profound hearing loss and cochlear implantation is an emerging hearing rehabilitation option. However, cochlear implant (CI) outcomes in this population vary, and intraoperative monitoring to predict cochlear nerve viability and subsequent outcomes is not well-established.

Objective: To review the use of intraoperative electrically evoked cochlear nerve monitoring in patients with NF2 simultaneous translabyrinthine (TL) vestibular schwannoma (VS) resection and cochlear implantation.

Vitamin D supplementation, lung function and asthma control in children with asthma and low vitamin D levels.

Observational studies have shown that low vitamin D levels are linked to worse lung function and poor asthma control in children with asthma. We hypothesized that vitamin D supplementation would improve function, disease control, and quality of life in children with asthma (ages 6–16 years) and vitamin D levels below 30 ng/ml. We tested this hypothesis in a secondary analysis of data from the Vitamin D Kids Asthma Study (VDKA), a randomized, double-blind, parallel, placebo-controlled clinical trial.

Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.

Introduction: Gaucher disease (GD) is one of the most prevalent lysosomal disorders, with an estimated incidence of 1 in 40,000 live births worldwide. Skeletal involvement is one of the main features of GD, causing morbidity and impacting long-term quality of life in patients with type 1 GD.

Objectives: To characterize bone marrow infiltration in patients with type 1 GD followed at the Gaucher Disease Referral Center of Porto Alegre, Brazil, and to assess whether the Bone Marrow Burden score (BMB) correlates with clinical or laboratory parameters.

Comparison of the investigational device exemption and post-approval trials of the Melody transcatheter pulmonary valve.

Objective: We compared 5-year outcomes of transcatheter pulmonary valve (TPV) replacement with the Melody TPV in the post-approval study (PAS) and the investigational device exemption (IDE) trial.

Background: As a condition of approval of the Melody TPV after the IDE trial, the Food and Drug Administration required that a PAS be conducted to evaluate outcomes of TPV replacement in a "real-world" environment. The 5-year outcomes of the PAS have not been published, and the IDE and PAS trials have not been compared.

A unique cardiovascular presentation of pheochromocytoma.

We describe a unique presentation of a pheochromocytoma in a normotensive teenager, who presented with symptoms of headache, neck pain, and palpitations. Holter and event monitor tracings revealed intermittent junctional rhythm causing electromechanical dyssynchrony between atrial and ventricular contraction resulting in reported symptoms. Exercise stress testing helped correlate symptomatic junctional rhythm events to episodic hypertension which led to the eventual diagnosis of pheochromocytoma.

MR Elastography demonstrates reduced white matter shear stiffness in early-onset hydrocephalus.

Introduction: Hydrocephalus that develops early in life is often accompanied by developmental delays, headaches and other neurological deficits, which may be associated with changes in brain shear stiffness. However, noninvasive approaches to measuring stiffness are limited. Magnetic Resonance Elastography (MRE) of the brain is a relatively new noninvasive imaging method that provides quantitative measures of brain tissue stiffness.

Treatment of small and medium retinoblastoma tumors with Iris diode laser.

Purpose: Differing techniques have been reported for focal laser therapy for patients with small and medium retinoblastoma. We report the technique used at our center; and report the functional and anatomical outcomes for small and medium retinoblastomas treated with focal laser therapy with or without systemic chemotherapy.

Methods: A retrospective case study was conducted including pediatric patients with macular retinoblastoma treated with systemic chemotherapy and laser ablation from July 1990 to July 2015 at Washington University School of Medicine/Saint Louis Children's Hospital.

Short Bowel Syndrome.

Purpose Of Review: Short gut syndrome is life-altering and life-threatening disease resulting most often from massive small bowel resection. Recent advances in understanding of the perturbed physiology in these patients have translated into improved care and outcomes. This paper seeks to review the advances of care in SBS patients.

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Chromodomain helicase DNA-binding protein 7 (CHD7) pathogenic variants are identified in more than 90% of infants and children with CHARGE (Coloboma of the iris, retina, and/or optic disk; congenital Heart defects, choanal Atresia, Retardation of growth and development, Genital hypoplasia, and characteristic outer and inner Ear anomalies and deafness) syndrome. Approximately, 10% of cases have no known genetic cause identified. We report a male child with clinical features of CHARGE syndrome and nondiagnostic genetic testing that included chromosomal microarray, CHD7 sequencing and deletion/duplication analysis, SEMA3E sequencing, and trio exome and whole-genome sequencing (WGS).

Institutional experience of healthy pediatric patients presenting with atrial fibrillation who had an electrophysiology study.

Introduction: Atrial fibrillation (AF) is a very common tachyarrhythmia with increasing prevalence with age, but uncommon in the pediatric population. Understanding that AF increases comorbidities make the need for investigation and potential elimination of alternate etiologies in pediatric AF patients critical. The objective of this study was to review our institutional data and compare our findings with previously documented adult AF risk factors to pediatric patients while also identifying which patients had alternate electrophysiology diagnoses amenable to transcatheter ablation.

The Oberg-Manske-Tonkin (OMT) Classification of Congenital Upper Extremities: Update for 2020.

A new classification for congenital upper-extremity anomalies was first published in 2010. It has come to be known as the OMT classification highlighting the thought leaders behind it: Kerby Oberg, Paul Manske, and Michael Tonkin. Based on a dysmorphology framework, the OMT has been adopted by the International Federation of Society for Surgery of the Hand and surgeons who treat congenital upper-extremity anomalies.

Preterm infant feeding performance at term equivalent age differs from that of full-term infants.

Objective: To identify differences in feeding skill performance among preterm infants at term equivalent age compared with full-term infants.

Study Design: Ninety-two infants (44 preterm infants born ≤32 weeks gestation at term equivalent age and 48 full-term infants within 4 days of birth) had a standardized oral feeding assessment.

Result: Preterm infants at term equivalent age had lower Neonatal Eating Outcome Assessment scores (67.

Neural stem cell therapy of foetal onset hydrocephalus using the HTx rat as experimental model.

Foetal onset hydrocephalus is a disease starting early in embryonic life; in many cases it results from a cell junction pathology of neural stem (NSC) and neural progenitor (NPC) cells forming the ventricular zone (VZ) and sub-ventricular zone (SVZ) of the developing brain. This pathology results in disassembling of VZ and loss of NSC/NPC, a phenomenon known as VZ disruption. At the cerebral aqueduct, VZ disruption triggers hydrocephalus while in the telencephalon, it results in abnormal neurogenesis.

Auditory exposure of high-risk infants discharged from the NICU and the impact of social factors.

Aim: To (a) define the early home auditory environment of high-risk infants within one month of neonatal intensive care unit (NICU) discharge, (b) compare auditory exposures in the home environment to the NICU environment,  and (c) define relationships between maternal/infant factors and auditory exposures within the home.

Methods: Seventy-three high-risk infants (48 high-risk infants in the NICU at term-equivalent age and 25 high-risk infants in the home following NICU discharge) had auditory exposures measured.

Results: An average of 1.