A5017758106- Connective tissue disorders research
- Tracheal and airway disorders
- Autopsy Techniques and Outcomes
- Neonatal Respiratory Health Research
- RNA modifications and cancer
- Bone Tumor Diagnosis and Treatments
- Cystic Fibrosis Research Advances
- Bone health and treatments
- Genomics and Rare Diseases
- Medical Imaging and Pathology Studies
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Congenital Diaphragmatic Hernia Studies
- Bone fractures and treatments
- Immunodeficiency and Autoimmune Disorders
- Forensic Anthropology and Bioarchaeology Studies
- Urological Disorders and Treatments
- Pleural and Pulmonary Diseases
- Genetic and rare skin diseases.
- Genetic factors in colorectal cancer
- Oral and Maxillofacial Pathology
- Congenital Heart Disease Studies
- Fetal and Pediatric Neurological Disorders
- Trauma and Emergency Care Studies
- Airway Management and Intubation Techniques
- Bone Metabolism and Diseases
Great Ormond Street Hospital for Children NHS Foundation Trust
2015-2024
Great Ormond Street Hospital
2013-2023
University College London
2013-2023
Royal National Orthopaedic Hospital NHS Trust
2023
Bristol Royal Hospital for Children
2021
Sheffield Children's NHS Foundation Trust
2021
Sheffield Children's Hospital
2021
Royal London Hospital
2021
Drexel University
2021
Office for National Statistics
2000-2009
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation new disorders thanks to DNA sequencing technology. most significant change as compared previous versions is the adoption dyadic naming system, systematically associating a phenotypic entity gene it arises from. We consider this step forward more informative less prone errors than traditional use list...
<h3>Rationale</h3> High resolution computed tomography (HRCT) is a more sensitive tool for detecting early cystic fibrosis (CF) lung disease than either spirometry or plain radiography, but its relationship to other measures of function has not been established in young children. <h3>Objectives</h3> 1) To assess whether the clearance index (LCI) derived from multiple breath inert-gas washout (MBW) as effective HRCT identifying pulmonary abnormalities; and 2) explore relationships between...
Background Children’s interstitial lung diseases (chILD) cover many rare entities, frequently not diagnosed or studied in detail. There is a great need for specialised advice and internationally agreed subclassification of entities collected register. Our objective was to implement an international management platform with independent multidisciplinary review cases at presentation long-term follow-up test if this would allow more accurate diagnosis. Also, quality reproducibility diagnostic...
Abstract The BoneXpert method for automated determination of bone age from hand X-rays was introduced in 2009 and is currently running over 200 hospitals. aim this work to present version 3 the validate its accuracy self-validation mechanism that automatically rejects an image if it at risk being analysed incorrectly. training set included 14,036 images 2017 Radiological Society North America (RSNA) Bone Age Challenge, 1642 normal Dutch Californian children, 8250 Tübingen patients with Short...
The incidence of empyema in children is increasing worldwide. While there are emerging data for the best treatment options, little evidence to support imaging modalities used guide treatment, particularly with regard role routine CT scanning. aims this study were develop a radiological scoring system paediatric and assess utility scanning disease.Children prospectively enrolled over 3-year period into randomised clinical trial video-assisted thoracoscopic surgery versus percutaneous chest...
Primary immunodeficiency is a common cause of bronchiectasis in children. The term suggests an irreversible process; however, disease progression following treatment controversial. aim this study was to evaluate the children with primary after institution treatment.A retrospective review case notes undertaken identify patients confirmed bronchiectasis. Children who had two high-resolution computed tomography scans chest (HRCT chest) interval at least 2 years were identified. HRCT-chest...
<h3>Rationale</h3> Sensitive outcome measures applicable in different centres to quantify and track early pulmonary abnormalities infants with cystic fibrosis (CF) are needed both for clinical care interventional trials. Chest CT has been advocated as such a measure yet there is no validated scoring system infants. <h3>Objectives</h3> The objectives of this study were standardise data collection across multiple sites; ascertain the incidence bronchial dilatation air trapping newborn screened...
The UK national incidence of nutritional rickets is unknown. We aimed to describe the incidence, presentation and clinical management children under 16 years with in presenting secondary care.Prospective data were collected monthly between March 2015 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit methodology. Clinicians completed online questionnaires for cases fitting surveillance case definition.125 met definition, an annual 0.48 (95% CI 0.37 0.62) per...
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS characterized by skeletal dysplasia distinctive facial physical characteristics. To further explore genetic heterogeneity, paralog contribution, phenotypic variability of RS, we investigated cohort 22 individuals clinically diagnosed from 18 unrelated families. Pathogenic or likely pathogenic...
Cerebro–Costo–Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch‐derivative malformations with striking rib‐gaps. Affected patients often have respiratory difficulties, associated upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe series of 12 sporadic 4 familial including 13 infants/children 3 adults. Severe micrognathia numbers ribs gaps are consistent findings. Cleft palate, feeding distress, tracheostomy requirement,...
Abstract PUF60 ‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of , is associated with multiple congenital anomalies affecting a wide range body systems. These include ophthalmic coloboma, and the heart, kidney, musculoskeletal system. Behavioral intellectual difficulties are also observed. While less common than other features disorder, for instance hearing impairment short stature, identification specific such coloboma can aid...