Alternative care sites and resident exposure in pediatric emergency medicine: Who, what, and where.

Objectives: Emergency medicine (EM) physicians and pediatricians who provide acute pediatric care depend on clinical exposure during residency to learn pediatric EM. Increasing volumes of pediatric patients, especially with behavioral health complaints, have stressed pediatric emergency departments (ED) and prompted clinical operations innovations including alternative care sites outside the main ED. We investigated the impact of these recent trends and resulting alternative care sites on the exposure of residents to core pediatric conditions.

Balanced resuscitation: application to the paediatric trauma population.

Purpose Of Review: Trauma is the leading cause of death in children over 5 years old. Early mortality is associated with trauma-induced coagulopathy (TIC), with balanced resuscitation potentially mitigating the effects of TIC. We review TIC, balanced resuscitation and the best evidence for crystalloid fluid versus early blood products, massive transfusion protocol (MTP) and the optimal ratio for blood products.

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the results has been complicated by the identification of many sequence variants of undefined cancer relevance, termed "Variants of Uncertain Significance (VUS)." We have developed functional assays and a statistical model called VarCall for classifying BRCA1 and BRCA2 VUS.

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to be variants of uncertain significance (VUS) because their impact on disease risk remains unknown, largely due to lack of sufficient familial linkage and epidemiological data. Several assays have been developed to examine the effect of VUS on protein function, which can be used to assess their impact on cancer susceptibility.

Multispecialty tracheostomy experience.

Introduction: Tracheostomy is a common surgical procedure used to create a secure airway in patients, now performed by a variety of specialties, with a notable rise in critical care environments. It is unclear whether this rise is seen in units with large head and neck surgery departments, and how practice in such units compares with the rest of the UK.

Methods: A three-year retrospective audit was carried out between anaesthetic, surgical and critical care departments.

Prevertebral neck abscess with : a case presentation and literature review.

We describe an unusual case of a 58-year-old man with type 2 diabetes mellitus (T2DM) developing sepsis secondary to a prevertebral neck abscess. Following cross-sectional imaging, the patient underwent surgical drainage. was isolated from urine, blood and pus cultures.

Bridging the gaps: using an NHP model to predict single dose radiation absorption in humans.

Design and characterization of a radiation biodosimetry device are complicated by the fact that the requisite data are not available in the intended use population, namely humans exposed to a single, whole-body radiation dose. Instead, one must turn to model systems. We discuss our studies utilizing healthy, unexposed humans, human bone marrow transplant patients undergoing total body irradiation (TBI), non-human primates subjected to the same irradiation regimen received by the human TBI patients and NHPs given a single, whole-body dose of ionizing radiation.

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Many variants of uncertain significance (VUS) have been identified in BRCA2 through clinical genetic testing. VUS pose a significant clinical challenge because the contribution of these variants to cancer risk has not been determined. We conducted a comprehensive assessment of VUS in the BRCA2 C-terminal DNA binding domain (DBD) by using a validated functional assay of BRCA2 homologous recombination (HR) DNA-repair activity and defined a classifier of variant pathogenicity.

Functional annotation signatures of disease susceptibility loci improve SNP association analysis.

Background: Genetic association studies are conducted to discover genetic loci that contribute to an inherited trait, identify the variants behind these associations and ascertain their functional role in determining the phenotype. To date, functional annotations of the genetic variants have rarely played more than an indirect role in assessing evidence for association. Here, we demonstrate how these data can be systematically integrated into an association study's analysis plan.

Surgical correction of scoliosis in pediatric patients with cerebral palsy using the unit rod instrumentation.

Study Design: Retrospective clinical and radiographic consecutive case series of 2 surgeons.

Objective: The purpose of this study was to present a large consecutive series of patients with cerebral palsy who were treated with the Unit rod instrumentation at a single institution. The goal was to report the incidence of surgical complications, degree of deformity correction, reoperation rate, prevalence of pseudarthrosis, and the caretakers' perceived outcome.

A reappraisal of the Ortolani examination in children with developmental dysplasia of the hip.

The Ortolani maneuver is currently accepted as an accurate test to detect developmental dislocation of the hip. However, the clinical sign does not always correlate with the findings seen on ultrasound. The ultrasound-documented position of the femoral head was correlated with the result of the clinical Ortolani examination to better understand the value and validity of the Ortolani test.

Fractures of the distal tibial metaphysis in children: patterns of injury and results of treatment.

Background: Fractures of the tibia are common in children. Fractures of the distal tibial metaphysis have been only described in fracture texts without reference to a peer-reviewed study. The purpose of the present study was to review this fracture pattern and report the results of treatment.

Operative treatment for type II avascular necrosis in developmental dysplasia of the hip.

Lateral growth disturbance of the proximal femur may occur after treatment of developmental dysplasia of the hip, although usually it is not recognized until the child is older. This resultant dysplasia is also known as Kalamchi and MacEwen Type II avascular necrosis. The valgus configuration of the proximal femur and associated acetabular dysplasia may need operative reconstruction.

A new modified technique of triple osteotomy of the innominate bone for acetabular dysplasia.

A new modified technique of triple osteotomy of the innominate bone has been devised and implemented for the treatment of residual acetabular dysplasia in children with developmental dysplasia of the hip. The procedure is done through a two-incision approach. The ischium, pubis, and iliac bones are osteotomized, with resection of a triangular wedge of bone from the outer cortex of the proximal part of the ilium.

Correction of sagittal plane spinal deformities with unit rod instrumentation in children with cerebral palsy.

Background: To our knowledge, there have been no previous studies addressing the indications for and the results of treatment of patients with cerebral palsy and concomitant kyphosis or lordosis without scoliosis. The purpose of the present study was to identify the indications for and the results of treatment of patients with cerebral palsy who have a spinal curve deformity solely in the sagittal plane.

Methods: We conducted a retrospective review of the data on all patients with cerebral palsy who had a sagittal plane spinal deformity but no coronal plane deformity, had undergone posterior spinal fusion with unit rod instrumentation at our institution, and had been followed for at least two years.

Correction of sagittal plane spinal deformities with unit rod instrumentation in children with cerebral palsy.

Background: To our knowledge, there have been no previous studies addressing the indications for and the results of treatment of patients with cerebral palsy and concomitant kyphosis or lordosis without scoliosis. The purpose of the present study was to identify the indications for and the results of treatment of patients with cerebral palsy who have a spinal curve deformity solely in the sagittal plane.

Methods: We conducted a retrospective review of the data on all patients with cerebral palsy who had a sagittal plane spinal deformity but no coronal plane deformity, had undergone posterior spinal fusion with unit rod instrumentation at our institution, and had been followed for at least two years.

Long-term follow-up of surgery for equinovarus foot deformity in children with cerebral palsy.

The factors associated with failed operative intervention in the treatment of equinovarus foot deformity in children with cerebral palsy (CP) were evaluated after long-term follow-up. One hundred eight children with CP who had surgery on the posterior tibialis tendon (split tendon transfer, intramuscular lengthening, or Z-lengthening) on 140 feet were reviewed at a mean age of 16.8 years with 7.

Bilateral Legg-Calvé-Perthes disease: presentation and outcome.

Most patients who develop Legg-Calve-Perthes disease have unilateral involvement. For those children who do develop bilateral involvement, the disease and its outcome have not been characterized. This study reviewed the records and radiographs of 83 patients (20 girls and 63 boys) with bilateral Legg-Calve-Perthes disease.

Surgical treatment of scoliosis in Marfan syndrome: guidelines for a successful outcome.

Twenty-three patients with Marfan syndrome who had a posterior spinal arthrodesis, with or without instrumentation, autogenous iliac crest bone graft, and postoperative immobilization were retrospectively reviewed to formulate guidelines for the treatment of scoliosis. Patients in group 1 (7 patients) had both the primary and secondary curves arthrodesed, whereas patients in group 2 (16 patients) underwent selective arthrodesis of the entire primary and a partial arthrodesis of the secondary curves. Thirteen patients had triple curves, nine had double curves, and one patient had a single curve.

Wedge-shaped distal tibial epiphysis in the pathogenesis of equinovalgus deformity of the foot and ankle in tibial lengthening for fibular hemimelia.

Fibular hemimelia is associated with an equinovalgus deformity of the foot and ankle and different degrees of wedging of the distal tibial epiphysis. This deformity is often a major problem during lengthening of the shortened tibia. To determine the significance of the wedge-shaped distal tibial epiphysis in the pathogenesis of the equinovalgus deformity of the foot and ankle during and after lengthening, we reviewed 20 patients who had undergone tibial lengthening by either the Wagner or the Ilizarov technique.

Computer modeling of the pathomechanics of spastic hip dislocation in children.

Spastic muscles about the hip cause subluxation, dislocation, and lead to acetabular dysplasia. Spastic hip disease occurs when the muscles about the hip exert forces that are too high or in the wrong direction or both. To determine the role of the hip forces in the progression of spastic hip disease and the effect of both muscle-lengthening and bony reconstructive surgeries, a computerized mathematical model of a spastic hip joint was created.