Establishing New Norms for Developmental Milestones.

Background And Objectives: Pediatric surveillance of young children depends on providers' assessment of developmental milestones, yet normative data are sparse. Our objectives were to develop new norms for common milestones to aid in clinical interpretation of milestone attainment.

Methods: We analyzed responses to the developmental screening form of the Survey of Well-being of Young Children from 41 465 screens across 3 states.

Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis.

Background & Aims: Eosinophilic esophagitis (EoE) is assessed endoscopically (endoscopic activity), based on grades of edema, rings, exudates, furrows, and strictures (EREFS). We examined variations in endoscopic assessments of severity, developed and validated 3 EREFS-based scoring systems, and assessed responsiveness of these systems using data from a randomized placebo-controlled trial of patients with EoE.

Methods: For the development set, 5 gastroenterologists reviewed EREFS findings from 266 adults with EoE and provided endoscopist global assessment scores (EndoGA, scale of 0 to 10); variation (ΔEndoGA) was assessed using linear regression.

A comprehensive review of the diagnosis and management of congenital scoliosis.

Purpose: To provide the reader with a comprehensive but concise understanding of congenital scoliosis METHODS: We have undertaken to summarize available literature on the pathophysiology, epidemiology, and management of congenital scoliosis.

Results: Congenital scoliosis represents 10% of pediatric spine deformity and is a developmental error in segmentation, formation, or a combination of both leading to curvature of the spine. Treatment options are complicated by balancing growth potential with curve severity.

Secondary overtriage of pediatric neurosurgical trauma at a Level I pediatric trauma center.

The authors looked at all of the pediatric patients with a head injury who were transferred from other hospitals to their own over 12 years and tried to identify factors that would allow patients to stay closer to home at their local hospitals and not be transferred. Many patients with isolated, nondisplaced skull fractures or negative CT imaging likely could have avoided transfer. While hospitals should be cautious, this may help families stay closer to home.

Evaluation and management of adolescent idiopathic scoliosis: a review.

Adolescent idiopathic scoliosis (AIS) is a 3D spinal deformity affecting children between the ages of 11 and 18, without an identifiable etiology. The authors here reviewed the available literature to provide spine surgeons with a summary and update on current management options. Smaller thoracic and thoracolumbar curves can be managed conservatively with observation or bracing, but corrective surgery may be indicated for rapidly growing or larger curves.

The Role of Age and Initial Deformation on Final Cranial Asymmetry in Infants with Plagiocephaly Treated with Helmet Therapy.

Background/aims: To characterize the impact of cranial asymmetry and age at initiation of therapy on final cranial asymmetry in infants with deformational plagiocephaly treated with helmet orthotics.

Methods: We conducted a single-center retrospective review of 45 pediatric patients <12 months of age with deformational plagiocephaly who underwent STARband cranial orthotic helmet treatment. Cranial asymmetry was measured using a 3-dimensional laser surface scanner and defined as a cranial vault asymmetry index (CVAI) >3.

Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development.

Background: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain.

Factors associated with spinal fusion after posterior fossa decompression in pediatric patients with Chiari I malformation and scoliosis.

OBJECTIVE The authors performed a study to identify clinical characteristics of pediatric patients diagnosed with Chiari I malformation and scoliosis associated with a need for spinal fusion after posterior fossa decompression when managing the scoliotic curve. METHODS The authors conducted a multicenter retrospective review of 44 patients, aged 18 years or younger, diagnosed with Chiari I malformation and scoliosis who underwent posterior fossa decompression from 2000 to 2010. The outcome of interest was the need for spinal fusion after decompression.

Pediatric Musculoskeletal Ultrasound: Practical Imaging Approach.

Objective: The purpose of this article is to review some of the common indications for pediatric musculoskeletal ultrasound examination, with emphasis given to imaging technique, normal anatomy, and the spectrum of pathologic findings seen in the pediatric population.

Conclusion: Ultrasound is an essential first-line tool in pediatric musculoskeletal imaging. It aids in determining which patients may benefit from further imaging, including radiography, CT, and MRI.

Symptoms Have Modest Accuracy in Detecting Endoscopic and Histologic Remission in Adults With Eosinophilic Esophagitis.

Background & Aims: It is not clear whether symptoms alone can be used to estimate the biologic activity of eosinophilic esophagitis (EoE). We aimed to evaluate whether symptoms can be used to identify patients with endoscopic and histologic features of remission.

Methods: Between April 2011 and June 2014, we performed a prospective, observational study and recruited 269 consecutive adults with EoE (67% male; median age, 39 years old) in Switzerland and the United States.

A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature.

A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. Her seizures were refractory to adequate doses of four antiepileptic medications until felbamate was initiated at age 7. She has since remained seizure-free on felbamate monotherapy.

Allergic mechanisms of Eosinophilic oesophagitis.

Eosinophilic oesophagitis (EoE) is characterized by oesophageal dysfunction and oesophageal eosinophilia refractory to proton-pump-inhibitor treatment. EoE is a food allergy, as elimination of food trigger(s) abrogates the disease, while trigger reintroduction causes recurrence. The allergic mechanism of EoE involves both IgE and non-IgE processes.

Applying Process Improvement Methods to Clinical and Translational Research: Conceptual Framework and Case Examples.

There is growing appreciation that process improvement holds promise for improving quality and efficiency across the translational research continuum but frameworks for such programs are not often described. The purpose of this paper is to present a framework and case examples of a Research Process Improvement Program implemented at Tufts CTSI. To promote research process improvement, we developed online training seminars, workshops, and in-person consultation models to describe core process improvement principles and methods, demonstrate the use of improvement tools, and illustrate the application of these methods in case examples.

How do gastroenterologists assess overall activity of eosinophilic esophagitis in adult patients?

Objectives: There is no "gold standard" for assessing disease activity in patients with eosinophilic esophagitis (EoE). We aimed to compare physicians' judgment of EoE activity with patients' judgment of symptom severity. We also aimed to examine the relative contribution of symptoms as well as endoscopic and histologic findings in shaping physicians' judgment of EoE activity.

Development and validation of a symptom-based activity index for adults with eosinophilic esophagitis.

Background & Aims: Standardized instruments are needed to assess the activity of eosinophilic esophagitis (EoE) and to provide end points for clinical trials and observational studies. We aimed to develop and validate a patient-reported outcome (PRO) instrument and score, based on items that could account for variations in patient assessments of disease severity. We also evaluated relationships between patient assessment of disease severity and EoE-associated endoscopic, histologic, and laboratory findings.

Comparison of operative and non-operative outcomes based on surgical selection criteria for patients with Chiari I malformations.

Few studies have directly compared operative and non-operative outcomes in Chiari I patients. We evaluated risk factors for clinical improvement in 177 patients in order to help determine the optimal treatment of these often difficult to treat patients. The mean age at surgery for the operative treatment group was 29.

Retinopathy of prematurity and brain damage in the very preterm newborn.

Purpose: To explain why very preterm newborns who develop retinopathy of prematurity (ROP) appear to be at increased risk of abnormalities of both brain structure and function.

Methods: A total of 1,085 children born at <28 weeks' gestation had clinically indicated retinal examinations and had a developmental assessment at 2 years corrected age. Relationships between ROP categories and brain abnormalities were explored using logistic regression models with adjustment for potential confounders.

Antenatal noninvasive DNA testing: clinical experience and impact.

Background: Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care.

Content: In this review, we summarize the technical approaches and current clinical applications of noninvasive testing using cell-free DNA in maternal plasma.

Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease.

In human pregnancy, the constant turnover of villous trophoblast results in extrusion of apoptotic material into the maternal circulation. This material includes cell-free (cf) DNA, which is commonly referred to as "fetal", but is actually derived from the placenta. As the release of cf DNA is closely tied to placental morphogenesis, conditions associated with abnormal placentation, such as preeclampsia, are associated with high DNA levels in the blood of pregnant women.

Endoscopic transventricular transaqueductal Magendie and Luschka foraminoplasty for hydrocephalus.

Background: Routinely, hydrocephalus related to fourth ventricular outlet obstruction (FVOO) has been managed with ventriculoperitoneal (VP) shunting or endoscopic third ventriculostomy (ETV). Few reports on Magendie foraminoplasty exist, and Luschka foraminoplasty has not been described.

Objective: To present an alternative technique in the management of FVOO via an endoscopic transventricular transaqueductal Magendie and Luschka foraminoplasty and to discuss the indications, technique, findings, and outcomes.

Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?

Background: Over the past 2 years, noninvasive prenatal testing (NIPT), which uses massively parallel sequencing to align and count DNA fragments floating in the plasma of pregnant women, has become integrated into prenatal care. Professional societies currently recommend offering NIPT as an advanced screen to pregnant women at high risk for fetal aneuploidy, reserving invasive diagnostic procedures for those at the very highest risk.

Content: In this review, we summarize the available information on autosomal and sex chromosome aneuploidy detection.

Loss of correction in spinal cord injury-related scoliosis after pedicle screw fixation.

Purpose: Spinal cord injury (SCI) in the pediatric population is an infrequent but clinically important disease to scoliosis surgeons. Spinal deformity after SCI is extremely common and almost uniformly develops in patients being injured before the growth spurt. Most treatment paradigms extrapolate management from both the adult literature as well as adolescent idiopathic scoliosis data.

An innovative fulcrum-bending radiographical technique to assess curve flexibility in patients with adolescent idiopathic scoliosis.

Study Design: A prospective clinical and radiographical study.

Objective: To introduce a redesigned fulcrum-bending radiographical (FBR) method, and to validate the effectiveness of this method in assessing patients with (AIS).

Summary Of Background Data: Several radiographical methods exist to evaluate curve flexibility in patients with AIS.