We aimed to evaluate musculoskeletal traits and assess vertebral fracture (VF) rate in children and adolescents with IBD ... A thoracolumbar spine X-ray should not be routinely recommended in children with IBD ... Children with IBD have altered bone density and geometry but normal dynamic muscle functions ... X-ray should be indicated on an individual basis in children with IBD Keyword: Bone strength.
Muscular and Skeletal Diseases (7) Inflammatory Bowel Diseases (3), more mentions
Although many uncomplicated pediatricfractures do not require routine long-term follow-up with an orthopedic surgeon, practitioners with limited experience dealing with pediatricfractures will often defer to a strategy of frequent clinical and ... analysis including patients who presented to the Hospital for Sick Children (SickKids) for management of clavicle fractures was performed.Three hundred forty patients (227 males, 113 females ... Our pediatric clavicle fracture pathway will reduce patient radiation exposure and reduce costs incurred ...
AbstractText: Descriptive Cross-Sectional Study AbstractText: To measure respiratory muscle function in children with EOS, determine the frequency of respiratory muscle weakness, and correlate these measures with Vital Capacity, Body Mass ... Cobb angle AbstractText: Progressive restrictive respiratory disease is common among children with moderate to severe Early Onset Scoliosis (EOS.
Anti-Obesity and Weight Loss (2) Muscle Weakness (3), Scoliosis (3), more mentions
BACKGROUND: Investigators have derived cervical spine injury (CSI) decision support tools from physician observations. There is a need to demonstrate that prehospital emergency medical services (EMS) providers can use these tools to appropriately determine the need for spinal motion restrictions and make field disposition decisions.
OBJECTIVE: To determine the inter-observer agreement between EMS and emergency department (ED) providers for CSI risk assessment variables and overall gestalt for CSI in children after blunt trauma.
METHODS: This was a planned, sub-study of a four-site, prospective cohort of children <18 years transported by EMS to pediatric EDs for evaluation of CSI after blunt trauma. Inclusion criteria were trauma team activation and/or EMS-initiated spinal motion restriction. Exclusion criteria were penetrating trauma, transfer to another facility for definitive care, state custody or substantial language barrier. For each eligible child, the transporting EMS provider and treating ED provider independently recorded their clinical assessment for CSI. This included mechanism of injury and patient history and physical examination findings. We assessed each paired variable for inter-observer agreement between EMS and ED provider using kappa (κ) analysis. We considered variables with κ lower confidence interval (LCL) values ≥0.4 to have moderate or better agreement.
RESULTS: We obtained 1,372 paired observations for 29 variables. After adjusting for finding prevalence and observer bias, all variables achieved moderate to better agreement including eight variables previously shown to be independently associated with CSI in children: diving mechanism, high-risk motor vehicle crash, altered mental status, focal neurologic findings, neck pain, torticollis, substantial torso injury, and predisposing medical condition. EMS and ED providers, however, showed less than moderate agreement for their overall gestalt for CSI in children. Of note, both EMS and ED providers did not assess for neck pain, inability to move the neck and/or cervical spine tenderness in more than 10% of study patients.
CONCLUSION: EMS and ED providers achieved at least moderate agreement in the assessment of CSI risk factors in children after blunt trauma. However, EMS and ED providers did not achieve moderate agreement on gestalt for CSI and some risk factors went unassessed by providers. These findings support the development of a pediatric CSI risk assessment tool for EMS and ED providers to reduce interventions for those children at very low-risk for CSIs while still identifying all children with injury. This article is protected by copyright. All rights reserved.
AbstractText: Joint physical custody (JPC), where children spend about equal time in both parent's homes after parental separation, is increasing ... intact families had similar outcomes, while teachers reported lower unadjusted symptom scores for children in intact families AbstractText: Joint physical custody arrangements were not associated with more psychological symptoms in children aged ...
We assessed perioperative spending on spinal fusion for scoliosis to inform how this might apply to children.Retrospective analysis of 1249 children using Medicaid and aged ≥5 years with a complex chronic condition undergoing spinal fusion in 2013 from 12 states. From perioperative health services measured 6 months before and 3 months after spinal fusion, we simulated a spending reallocation ...
... sparing effects of intranasal ketamine.This randomized controlled trial compared intranasal ketamine 1 mg/kg to intranasal fentanyl 1.5 μg/kg in children 4-17 years old with acute pain from suspected, isolated extremity fractures presenting to an urban level II pediatric trauma center from December 2015 to November 2016.
... reduction (LOR) following closed reduction and casting for displaced concomitant fractures of the radial and ulnar shafts in pediatric patients.Retrospective cohort study SETTING:: A single tertiary care, urban ... Given the high risk of LOR in overweight and obese children with displaced concomitant fractures of the radial and ulnar shafts, our findings suggest that ...
Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate ... clinical and bone histomorphometric characteristics, bone matrix mineralization and the response of bone geometry and density to BP therapy.Five children with HJCYS (3 males) aged between 6.7 and 15.3 years.Various BP ...
Muscular and Skeletal Diseases (2) Hajdu-Cheney Syndrome (2), Bone Resorption (2), Bone Diseases (1), more mentions
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting. We hypothesize that mutations that preserve function of the coiled-coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled-coil domain cause LCCS. The phenotype of LAAHD is now expanded to include multiple individuals surviving into childhood suggesting that LAAHD is a misnomer and should be re-named Arthrogryposis with Anterior Horn Cell Disease (AAHD).
Arthrogryposis (3), Anterior Horn Cell Disease (2), Motor Neuron Disease (2), more mentions
International Clubfoot Study Group score (ICFSG), the Pediatric Outcomes Data Collection Instrument (PODCI) and the Functional Rating System (FRS) were used to compare morphology, functional, radiological and subjective outcomes, and the Oxford Foot Model (OFM) was used to evaluate foot kinematics. No significant difference was seen between groups in the initial Pirani scores (p=0.618.
Alterations in transcriptional regulators can orchestrate oncogenic gene expression programs in cancer. Here, we show that the BRG1/BRM-associated factor (BAF) chromatin remodeling complex, which is mutated in over 20% of human tumors, interacts with EWSR1, a member of a family of proteins with prion-like domains (PrLD) that are frequent partners in oncogenic fusions with transcription factors. In Ewing sarcoma, we find that the BAF complex is recruited by the EWS-FLI1 fusion protein to tumor-specific enhancers and contributes to target gene activation. This process is a neomorphic property of EWS-FLI1 compared to wild-type FLI1 and depends on tyrosine residues that are necessary for phase transitions of the EWSR1 prion-like domain. Furthermore, fusion of short fragments of EWSR1 to FLI1 is sufficient to recapitulate BAF complex retargeting and EWS-FLI1 activities. Our studies thus demonstrate that the physical properties of prion-like domains can retarget critical chromatin regulatory complexes to establish and maintain oncogenic gene expression programs.
We performed a systematic review and evaluated the level of evidence of vision interventions and assessments for infants at high risk for or with a diagnosis of cerebral palsy from 0 to 2 years of age. Articles were evaluated based on the level of methodologic quality, evidence, and clinical utilization. Thirty publications of vision assessments and five of vision interventions met criteria for inclusion. Assessments included standard care neuroimaging, electrophysiology, and neuro-ophthalmologic examination techniques that are utilized clinically with any preverbal or nonverbal pediatric patient. The overall level of evidence of interventions was strong for neuroprotective interventions such as caffeine and hypothermia but weak for surgery, visual training, or developmental programs. There are few evidence-based interventions and assessments that address cerebral/cortical visual impairment-related needs of infants and toddlers at high risk for or with cerebral palsy. Recommendation guidelines include the use of three types of standard care methodologies and two types of protective interventions.
This was a prospective, repeat-treatment, open-label study (NCT01251380) of abobotulinumtoxinA for the management of lower limb spasticity in children who had completed a double-blind study. Children (2-17 years) received injections into the gastrocnemius-soleus complex, and other distal and proximal muscles as required (maximum total dose per injection cycle: 30 U/kg or 1000U). A total of 216 of the 241 double-blind patients entered the extension study and 207 received ≥1 open label injection into the gastrocnemius-soleus; 17-24% of patients also had injections into the hamstrings. The most frequent adverse events were related to common childhood infections and the most frequent treatment-related adverse event was injection site pain (n = 10). There was no evidence of a cumulative effect on adverse events. Sustained significant clinical improvements in muscle tone (Modified Ashworth Scale), spasticity (Tardieu Scale), overall clinical benefit (Physicians Global Assessment), and goal attainment (Goal Attainment Scale) were also observed across treatment cycles.
TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype including severe neuromuscular involvement. In light of previously well described dominant inheritance for TRPV4-related neuromuscular disease, our study suggests a role for compound heterozygosity and loss-of-function as a potential novel disease mechanism for this group of disorders. Profound intellectual disability was also noted in both affected children, suggesting that TRPV4 may be necessary for normal brain development.
Intellectual Disability (2), Neuromuscular Diseases (1), more mentions