Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study.

Limited evidence exists on real-world adherence to nusinersen for the treatment of spinal muscular atrophy (SMA). Data are presented from a multi-site retrospective chart review of 86 adults with SMA initiating nusinersen at nine US centers between January 2017 and February 2019. Seventy-nine (92%) adults remained on nusinersen during the study; 454 (92%) of 493 total nusinersen doses were received on time.

How do pediatric urology fellows learn outside of direct patient care? A qualitative study.

Background: A large proportion of time during pediatric urology fellowship training is focused on surgical skill development. While fellows begin their fellowship training with some knowledge of pediatric urology from residency, they rely on self-directed learning to expand their knowledge base.

Objective: To assess how pediatric urology fellows learn about their field outside of direct patient care experiences.

Etiology- and region-specific characteristics of transependymal cerebrospinal fluid flow.

Objective: Transependymal flow (TEF) of CSF, often delineated as T2-weighted hyperintensity adjacent to the lateral ventricles on MRI, is a known imaging finding, usually in the setting of CSF flow disturbances. Specific radiological features of TEF and their relationships with clinical markers of hydrocephalus and underlying disease pathology are not known. Here, the authors describe the radiological features and clinical associations of TEF with implications for CSF circulation in the setting of intracranial pathology.

Adenotonsillectomy outcomes in obese adolescents with obstructive sleep apnea.

Study Objectives: (1) To assess adenotonsillectomy (AT) outcomes in adolescents with obesity and with obstructive sleep apnea (OSA); (2) To identify clinical factors predicting OSA in adolescents following AT.

Methods: Adolescents 12 to 18 years old with obesity who underwent AT for OSA were included. Subjects had pre-AT and post-AT polysomnogram.

Incidence and Relative Burden of Surgical Site Infections in Children Undergoing Nonemergent Surgery: Implications for Performance Benchmarking and Prioritization of Prevention Efforts.

Objective: To establish surgical site infection (SSI) performance benchmarks in pediatric surgery and to develop a prioritization framework for SSI prevention based on procedure-level SSI burden.

Background: Contemporary epidemiology of SSI rates and event burden in elective pediatric surgery remain poorly characterized.

Methods: Multicenter analysis using sampled SSI data from 90 hospitals participating in NSQIP-Pediatric and procedural volume data from the Pediatric Health Information System (PHIS) database.

A consensus on optimization of care in patients with growth hormone deficiency and mild traumatic brain injury.

Objective/design: Approximately 2.9 million children and adults in the US experience traumatic brain injuries (TBIs) annually, most of which are considered mild. TBI can induce varying consequences on pituitary function, with growth hormone deficiency (GHD) among the more commonly reported conditions.

Intravenous Fluid Bolus Rates Associated with Outcomes in Pediatric Sepsis: A Multi-Center Analysis.

Purpose: Pediatric sepsis guidelines recommend rapid intravenous fluid (IVF) bolus administration rates (BAR). Recent sepsis studies suggest that rapid BAR may be associated with increased morbidity. We aimed to describe the association between emergency department (ED) IVF BAR and clinical outcomes in pediatric sepsis.

Bell's palsy with facial bone involvement: A rare presentation of chronic nonbacterial osteomyelitis with literature review.

Chronic nonbacterial osteomyelitis (CNO) is a chronic, sterile, inflammatory disease. It primarily presents with nonspecific bone pain and swelling but ultimately can cause bone destruction and deformities, if left untreated. The involvement of the cranial bones (apart from the mandible) is rare in CNO.

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.

Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins that are a part of the mammalian switch/sucrose non-fermentable (mSWI/SNF; BAF) complex.

Inborn Errors of Metabolism: Becoming Ready for Rare.

Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children. The rarity and complexity of these conditions often make them difficult to recognize, as they may mimic more common conditions. This review article discusses some of the more commonly presenting IEMs that are important for the general pediatrician to understand when evaluating a sick patient.

Outcomes in Ballistic Injuries to the Hand: Fractures and Nerve/Tendon Damage as Predictors of Poor Outcomes.

Background: Gunshot injuries can be devasting, regardless of their location. However, ballistic injuries involving the upper extremity have not been thoroughly investigated. The goal of this study is to evaluate the injury patterns and outcomes of patients who sustained gunshot injuries to the hand.

Physician Burnout Through the Female Lens: A Silent Crisis.

Physician burnout, the emotional exhaustion and depersonalization that arises from job fatigue and dissatisfaction, is a rapidly growing problem. Although burnout has been a recognized problem for decades, our healthcare system has yet to devise a sustainable solution. Additionally, burnout does not affect all physicians in the same way- women physicians have disproportionately higher rates of burnout than male physicians.

Treatments and Sequelae of Pediatric Pathologic Proximal Femur Fractures Due to Benign Bone Cyst.

Background: The proximal femur is a common location for pathologic fractures in children, yet there is little published information regarding this injury. The purpose of this study was to investigate the outcomes of pediatric pathologic proximal femur fractures due to benign bone tumors.

Methods: A retrospective review of patients treated for pathologic proximal femur fractures from 2004 to 2018 was conducted.

Implementation of a Clinical Leadership Curriculum for Pediatric Residents.

Introduction: Clinical leadership is an essential skill for physicians, empowering them to lead and coordinate teams, communicate clearly under various conditions, model positive behaviors, display emotional intelligence, and ultimately improve patient care outcomes. However, there are currently no standardized residency curricula or competency-based assessments for clinical leadership, as residents often assimilate leadership skills through trial-and-error or observation of their clinical faculty. By utilizing a comprehensive needs assessment and synthesizing evidence-based practices, we developed and implemented a longitudinal and skills-based clinical leadership curriculum for pediatric residents.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).

Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe.

Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years.

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.

Introduction: Gene therapy for spinal muscular atrophy (SMA) represents a significant milestone in the treatment of neurologic diseases. SMA is a neurodegenerative disease that results in motor neuron loss because of mutations of the gene, which directs survival motor neuron (SMN) protein production. Onasemnogene abeparvovec, a one-time gene replacement therapy, delivers a functional transgene to restore SMN protein expression.

Results of an international survey on adherence with anticoagulation in children, adolescents, and young adults: Communication from the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis.

Background: The ISTH Scientific and Standardization Committee (SSC) Subcommittee on Pediatric/Neonatal Thrombosis and Hemostasis convened a working group on medication adherence to begin to understand the current state of clinical practice to inform priority areas for efforts to improve adherence for children, and adolescents and young adults (AYA) prescribed anticoagulants.

Objectives: We sought to survey an international group of clinicians involved in anticoagulation management in children and/or AYA about perceptions of medication on health outcomes, clinical practice related to medication adherence, and barriers to assessing and improving medication adherence.

Methods: Clinicians involved in anticoagulation management in children and/or AYA were surveyed via REDCap .