Near-pair patch generative adversarial network for data augmentation of focal pathology object detection models.

Purpose: The limited volume of medical training data remains one of the leading challenges for machine learning for diagnostic applications. Object detectors that identify and localize pathologies require training with a large volume of labeled images, which are often expensive and time-consuming to curate. To reduce this challenge, we present a method to support distant supervision of object detectors through generation of synthetic pathology-present labeled images.

Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia.

We report a 3-year-old male with findings of segmental agenesis of the corpus callosum, pituitary hypoplasia, and Chiari I malformation. The patient was born at 33 weeks and spent five weeks in the NICU for hypoglycemia, hypotension, and dyspnea. In infancy, the patient passed an adrenocorticotropic hormone stimulation test, while cortisol, growth hormone, and insulin-like growth factor levels were within reference range.

High sensitivity methods for automated rib fracture detection in pediatric radiographs.

Rib fractures are highly predictive of non-accidental trauma in children under 3 years old. Rib fracture detection in pediatric radiographs is challenging because fractures can be obliquely oriented to the imaging detector, obfuscated by other structures, incomplete, and non-displaced. Prior studies have shown up to two-thirds of rib fractures may be missed during initial interpretation.

Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial.

Background: Children with relapsed central nervous system (CNS tumors), neuroblastoma, sarcomas, and other rare solid tumors face poor outcomes. This prospective clinical trial examined the feasibility of combining genomic and transcriptomic profiling of tumor samples with a molecular tumor board (MTB) approach to make real‑time treatment decisions for children with relapsed/refractory solid tumors.

Methods: Subjects were divided into three strata: stratum 1-relapsed/refractory neuroblastoma; stratum 2-relapsed/refractory CNS tumors; and stratum 3-relapsed/refractory rare solid tumors.

Association of Abnormal Findings on Neonatal Cranial Ultrasound With Neurobehavior at Neonatal Intensive Care Unit Discharge in Infants Born Before 30 Weeks' Gestation.

Importance: Cranial ultrasound (CUS) findings are routinely used to identify preterm infants at risk for impaired neurodevelopment, and neurobehavioral examinations provide information about early brain function. The associations of abnormal findings on early and late CUS with neurobehavior at neonatal intensive care unit (NICU) discharge have not been reported.

Objective: To examine the associations between early and late CUS findings and infant neurobehavior at NICU discharge.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disability and developmental delay as core features. The extent to which mono-allelic variants in GRIK2 also underlie NDDs is less understood because only a single individual has been reported previously.

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.

Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrome diagnosed by whole exome sequencing caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC), characterized by neurological deficits and alopecia.

Pediatric cervical spine injuries on CT: difference in accuracy of interpretations by pediatric versus non-pediatric radiologists.

Purpose: To retrospectively compare the accuracy of interpretation of initial cervical computerized tomography (CCT) by a non-pediatric radiologist (NPR) versus a pediatric radiologist (PR).

Methods: IRB approval and consent waiver were granted to review all injured children from 2010 to 2014 in the trauma registry with CT and magnetic resonance imaging (MRI) of the cervical spine. Patients with negative CCT who subsequently had positive MRI from a single institution comprised the study group.

The Perils of Perfectionism.

The purposes of this article are to describe the perfectionism that occurs among radiologists and to propose methods of assuaging it. Perfectionism can take a great toll on radiologists and those they work with. Only by setting realistic expectations and learning from failure is genuine professional fulfillment possible.

Maintenance DFMO Increases Survival in High Risk Neuroblastoma.

High risk neuroblastoma (HRNB) accounts for 15% of all pediatric cancer deaths. Despite aggressive therapy approximately half of patients will relapse, typically with only transient responses to second-line therapy. This study evaluated the ornithine decarboxylase inhibitor difluoromethylornithine (DFMO) as maintenance therapy to prevent relapse following completion of standard therapy (Stratum 1) or after salvage therapy for relapsed/refractory disease (Stratum 2).

Incidence of pulmonary emboli on chest computed tomography angiography based upon referral patterns.

Pulmonary embolism (PE) is a potentially lethal condition, and the diagnosis of PE can be difficult. The purpose of this study is to evaluate the incidence of PE on chest computed tomography angiography (CTA) studies ordered in the inpatient, outpatient, and emergency department (ED) settings and further segregated based on the adult and pediatric populations, and by the ordering clinician (attending physicians, resident physicians, or physician extenders). A retrospective review of chest CTA examinations performed between July 1,2009 and June 30, 2010 was performed.

Pediatric thoracic spine injuries: a single-institution experience.

Objective: The objective of our study was to determine the incidence of various fractures of the thoracic spine in pediatric patients.

Conclusion: Simple compression and process-only fractures were the most common types of fractures and all other fracture types were infrequent. Distraction injury was unexpectedly more common in the nonjunctional thoracic spine than in the junctional thoracic spine.

Using a rhabdomyosarcoma patient-derived xenograft to examine precision medicine approaches and model acquired resistance.

Background: Precision (Personalized) medicine has the potential to revolutionize patient health care especially for many cancers where the fundamental disease etiology remains either elusive or has no available therapy. Here we outline a study in alveolar rhabdomyosarcoma, in which we use gene expression profiling and a series of drug prediction algorithms combined with a matched patient-derived xenograft (PDX) model to test bioinformatically predicted therapies.

Procedure: A PDX model was developed from a patient biopsy and a number of drugs identified using gene expression analysis in combination with drug prediction algorithms.

Rate of and factors affecting sonographic visualization of the appendix in asymptomatic children.

Reported sonographic visualization rates of the appendix in children are variable. Visualization rates may be affected by patient's age and various patients' physical characteristics. The purpose of this study is to determine the frequency of sonographic visualization of the appendix by pediatric sonographers, to assess factors that may affect visualization of the appendix, and to define the characteristics of the appendix and periappendiceal region in asymptomatic children.

Ossification patterns of the atlas vertebra.

Objective: The objective of this study was to characterize ossification patterns of the C1 (atlas) vertebra in children, to better differentiate normal variants from traumatic injury.

Materials And Methods: A retrospective review of all sinus and temporal bone CT examinations was performed for the period of 2002-2009. Patients 96 months old or younger for whom C1 level was at least partially imaged were included.

Pediatric lateral atlantodental interval: how much asymmetry is normal?

Imaging of the cervical spine is commonly performed in the pediatric patient population, typically after trauma, as well as for a variety of nontraumatic reasons. There are many challenges in the interpretation of these studies, particularly at the level of the atlantoaxial joint. We recognized a particular problem with assessing the lateral atlantodental interval in our emergency radiology department.

Is the comparison of a left varicocele testis to its contralateral normal testis sufficient in determining its well-being?

Objective: To determine whether a size difference between a left testis involved with a varicocele and the contralateral normal testis is sufficient in its size assessment.

Methods: We reviewed all pediatric scrotal ultrasounds at Helen DeVos Children's Hospital between 2001 and 2008. Sonographic testicular measurements were recorded for patients with clinically diagnosed left varicocele (n = 81 for "varicocele" group) and for patients with no specific pathologic findings (n = 184 for "normal" group).

Relationship between the clinical characteristics of osteomyelitis and the finding of extraosseous fat on MRI in pediatric patients.

Background: MRI is frequently utilized to evaluate patients for osteomyelitis. The findings of intramedullary and extramedullary fat globules as well as extramedullary fat-fluid levels can help improve the specificity of MRI for this diagnosis.

Objective: To correlate these MRI findings with the clinical characteristics in children with osteomyelitis.

Pediatric craniocervical junction injuries.

Objective: The purpose of this article is to review pediatric craniocervical junction injuries in the context of embryology, developmental anatomy, and biomechanics.

Conclusion: The craniocervical junction is functionally and developmentally distinct from the rest of the spine, and mechanistic models often fail to explain these injuries. Various developmental features and complex anatomy likely contribute to injury in this region in children.

Reader variability in the use of diagnostic terms to describe white matter lesions seen on cranial scans of severely premature infants: the ELGAN study.

Purpose: To evaluate reader variability of white matter lesions seen on cranial sonographic scans of extreme low gestational age neonates (ELGANs).

Methods: In 1,452 ELGANs, cranial sonographic scans were obtained in the first and second postnatal weeks, and between the third postnatal week and term. All sets of scans were read independently by two sonologists.

Rate and associations of epididymal cysts on pediatric scrotal ultrasound.

Purpose: We established the baseline occurrence of epididymal cysts, and the correlation between epididymal cysts and testicular size.

Materials And Methods: We retrospectively reviewed all pediatric scrotal ultrasounds done at our institution in 8 years. We analyzed the proportion of cysts by patient age and compared testicular size in boys with vs without epididymal cysts.

Mechanisms of injury to white matter adjacent to a large intraventricular hemorrhage in the preterm brain.

The purpose of this article is to investigate the hyperechoic lesion seen adjacent to a lateral ventricle that contains blood but is not distended. The literature on ependymal barrier dysfunction was reviewed in search of mechanisms of injury to the white matter adjacent to an intraventricular hemorrhage. The clinical literature on the clinical diagnosis of periventricular hemorrhagic infarction was also reviewed to find out how frequently this diagnosis was made.

Cervical spine injuries in pediatrics: are children small adults or not?

Diagnosis of cervical spine injuries is crucial whether in children or adults. It is necessary to understand the injuries unique to the developing spine. Equally important is an insight to similarities in injury patterns between adults and children.