- Traumatic Brain Injury Research
- Traumatic Brain Injury and Neurovascular Disturbances
- Advanced Neuroimaging Techniques and Applications
- Neonatal and fetal brain pathology
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Cardiac Arrest and Resuscitation
- Fetal and Pediatric Neurological Disorders
- Advanced MRI Techniques and Applications
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- NF-κB Signaling Pathways
- Genetics and Neurodevelopmental Disorders
- Glioma Diagnosis and Treatment
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Functional Brain Connectivity Studies
- Craniofacial Disorders and Treatments
- Congenital heart defects research
- Chronic Lymphocytic Leukemia Research
- Aortic Disease and Treatment Approaches
- PARP inhibition in cancer therapy
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
Texas Children's Hospital
2014-2024
Baylor College of Medicine
2015-2024
Ben Taub Hospital
2020-2024
Newcastle University
2008-2023
Cancer Research UK
2023
Baylor School
2017
Boston Children's Hospital
2003-2015
King's College London
2015
London Health Sciences Centre
2015
UPMC Presbyterian
2015
Objectives. The aim of this study was to elucidate the frequency major clinical manifestations in children with mitochondrial disease and establish their course, prognosis, rates survival depending on features. Methods. We performed a retrospective review medical records 400 patients who were referred for evaluation disease. By use modified Walker criteria, only assigned definite diagnosis included study. Results. A total 113 pediatric identified. 102 (90%) underwent muscle biopsy as part...
<b>Background: </b> In adult patients, autoantibodies targeting the water channel aquaporin-4 (AQP4) are a biomarker for spectrum of CNS inflammatory demyelinating disorders with predilection optic nerves and spinal cord (neuromyelitis optica [NMO]). Here we describe neurologic, serologic, radiographic findings associated AQP4 autoimmunity in childhood. <b>Methods: A total 88 consecutive seropositive children were identified through service evaluation NMO-IgG. Sera 75 tested coexisting...
<h3>Background</h3> The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. <h3>Objective</h3> To define medical, neuropsychological, behavioural phenotypes in carriers this deletion. <h3>Methods</h3> We collected clinical data on 285 performed detailed evaluations 72 68 intrafamilial non-carrier controls. <h3>Results</h3> When compared to controls, full scale intelligence...
The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).To characterize effects of on cognitive, behavioral, medical, anthropometric traits to understand specificity these by systematically comparing results in carriers reciprocal deletion carriers, who are also at risk for ASD.This international cohort study 1006 participants compared 270 their 102...
Diffusion tensor imaging (DTI) is a recent technique that assesses the microstructure of cerebral white matter (WM) based on anisotropic diffusion (i.e., water molecules move faster in parallel to nerve fibers than perpendicular them). Fractional anisotropy (FA), which ranges from 0 1.0, increases with myelination WM tracts and sensitive diffuse axonal injury (DAI) adults traumatic brain (TBI). However, previous DTI studies pediatric TBI were case reports without detailed outcome measures....
In vivo MRI volumetric analysis enables investigators to evaluate the extent of tissue loss following traumatic brain injury (TBI). However, studies pediatric TBI are sparse, and there have been no date in children examining specific subregions prefrontal temporal lobes. this study, volumetry was used volume differences whole brain, prefrontal, temporal, posterior regions moderate severe as compared uninjured similar age demographic characteristics. The group had significantly reduced...
Assumptions about the damaging effects of radiotherapy (XRT) are based on studies in which total dose, dose fraction, treatment volume, degree malignancy, chemotherapy, tumor recurrence, and neurologic comorbidity interact with XRT effects. This is a prospective, long-term study adults, fraction were constrained data related to recurrence (e.g., hypertension) excluded.The cognitive radiographic outcomes 26 patients low-grade, supratentorial, brain tumors yearly from baseline (6 weeks after...
OBJECTIVE--To test the hypothesis that smoking increases risk of sensitisation by occupational allergens. DESIGN--Historical prospective cohort study. SETTING--Platinum refinery. SUBJECTS--91 Workers (86 men) who started work between 1 January 1973 and 31 December 1974 whose habit atopic state (on skin prick testing with common allergens) had been noted at joining. MAIN OUTCOME MEASURES--Results tests platinum salts carried out routinely every three to six months records any respiratory...
<h3>BACKGROUND AND PURPOSE:</h3> DTI of normal-appearing WM as evaluated by conventional MR imaging in mTBI has the potential to identify important regional abnormalities that relate PCS. VBA was used examine changes acute mTBI. <h3>MATERIALS METHODS:</h3> assessed between 1 and 6 days postinjury with voxel-based analyses 10 adolescent patients age-matched control participants. In addition group, analysis brain pathology across all mTBI, 2 linear regressions were performed. These...
Our goal was to describe the spectrum of clinical phenotypes, laboratory and imaging features, treatment in pediatric patients with neuromyelitis optica.The study consisted a retrospective chart review followed multiple sclerosis center diagnosis optica disorder.Nine disorders were included, all whom female. There 4 black children, 2 Latin American white 1 child mixed American/white heritage. Median age at initial attack 14 years (range: 1.9-16 years). disease duration 0.6-9 Tests for...
Summary Background Adverse neurodevelopmental outcomes are observed in up to 50% of infants after complex cardiac surgery. We sought determine the association perioperative anesthetic exposure with at age 12 months neonates undergoing surgery and effect brain injury determined by magnetic resonance imaging ( MRI ). Methods Retrospective cohort study who had preoperative 7‐day postoperative 12‐month testing Bayley Scales Infant Toddler Development, Third Edition (Bayley‐ III Doses volatile...
Objective To investigate the relation of white matter integrity using diffusion tensor imaging (DTI) to cognitive and functional outcome moderate severe traumatic brain injury (TBI) in children. Design Prospective observational study children who had sustained TBI a comparison group orthopedic (OI). Participants Thirty-two 36 with OI were studied. Methods Fiber tracking analysis DTI acquired at 3-month postinjury assessment global function within 2 weeks imaging. Global was assessed Glasgow...
Background: Atrophy of the corpus callosum (CC) is a documented consequence moderate-to-severe traumatic brain injury (TBI), which has been expressed as volume loss using quantitative magnetic resonance imaging (MRI). Other advanced modalities such diffusion tensor (DTI) have also detected white matter microstructural alteration following TBI in CC. The manner and degree to macrostructural changes develop over time pediatric TBI, their relation measure processing speed focus this...
Compromised memory functioning is one of the commonly reported cognitive sequelae seen following mild traumatic brain injury (mTBI). Diffusion tensor imaging (DTI) has been shown to be sufficiently sensitive at detecting early microstructural pathological alterations after mTBI. Given its location and shape, cingulate, which comprised cingulate gyrus (gray matter) cingulum bundles (white matter), selectively vulnerable In this study we examined integrity using DTI, relationship between...