A5088221100- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Facial Trauma and Fracture Management
- Lipid metabolism and disorders
- Adipose Tissue and Metabolism
- Head and Neck Surgical Oncology
- Tumors and Oncological Cases
- Growth Hormone and Insulin-like Growth Factors
- Lipid metabolism and biosynthesis
- Anatomy and Medical Technology
- Tracheal and airway disorders
- Assisted Reproductive Technology and Twin Pregnancy
- dental development and anomalies
- Facial Rejuvenation and Surgery Techniques
- Adipokines, Inflammation, and Metabolic Diseases
- Orthodontics and Dentofacial Orthopedics
- History of Medical Practice
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Vascular Malformations Diagnosis and Treatment
- Metabolism, Diabetes, and Cancer
- Reconstructive Surgery and Microvascular Techniques
- Organ Transplantation Techniques and Outcomes
- Bone Tumor Diagnosis and Treatments
- Hair Growth and Disorders
University College London
2010-2024
Great Ormond Street Hospital
2017-2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2017-2024
Chelsea and Westminster Hospital NHS Foundation Trust
2016-2023
Bambino Gesù Children's Hospital
2020
Queen Mary University of London
2019
Institute of Child Health
2019
Texas Plastic Surgery
2019
Foghorn Therapeutics (United States)
2018
Blueprint Medicines (United States)
2018
A previous study reported the increased expression of cytokine TNF in adipose tissue genetically obese rodents. To examine this paradigm humans, we studied lean, obese, and reduced-obese human subjects. mRNA was demonstrated adipocytes by Northern blotting PCR. protein quantitated Western ELISA both medium surrounding tissue. Using quantitative reverse transcriptase PCR (RT-PCR), levels were examined 39 nondiabetic subjects, spanning a broad range body mass index (BMI). There significant...
TNFalpha is orverexpressed in the adipose tissue of obese rodents and humans, associated with insulin resistance. To more closely link TNF expression whole body action, we examined by muscle, which responsible for majority glucose uptake vivo. Using RT-PCR, was detected human heart, skeletal muscle from humans rats, cultured myocytes. competitive quantitated biopsy specimens 15 subjects whose sensitivity had been characterized using clamp. technique. resistant diabetic patients fourfold...
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous (AVM).To investigate the pathogenesis sporadic intracranial extracranial VMs in 160 children which known genetic causes had been excluded, we sequenced DNA from affected tissue optimized...
Hormone-sensitive lipase (HSL) mediates the lipolysis of triacylglycerol from mammalian adipocytes, resulting in release non-esterified fatty acids and glycerol. Although numerous studies have examined hormonal regulation HSL, measurement HSL mRNA levels response to regulators has not been studied. This study was designed determine effects epinephrine, growth hormone, glucagon, dexamethasone on expression by measuring glycerol primary cultures rat adipocytes. Exposure adipocytes epinephrine...
Lipoprotein lipase (LPL) is the enzyme responsible for hydrolysis of circulating triglyceride-rich lipoproteins and important storage adipocyte lipid. To study regulation LPL synthetic rate in adipose tissue, primary cultures isolated rat adipocytes were pulse-labeled with [35S]methionine, was immunoprecipitated an LPL-specific antibody. A pulse-chase experiment identified cellular secreted forms as a 55-57-kDa protein. In presence heparin, there large increase secretion newly synthesized...
Previous studies have demonstrated higher levels of adipose tissue lipoprotein lipase (LPL) catalytic activity in obese subjects, and response to a meal. To examine the cellular mechanism this increase activity, LPL immunoreactive mass, mRNA level were measured lean subjects both before 4 h after carbohydrate-rich Heparin-releasable (HR) was approximately 2.5-fold 15 when compared with six subjects. However, there no difference mass between In meal, 2.2-fold total due an HR fraction, as well...
Genotype-phenotype studies can identify subgroups of patients with specific clinical features or differing outcomes, which help shape management.To characterize the frequency different causative genotypes in congenital melanocytic naevi (CMN), and to investigate genotype-phenotype genotype-outcome associations.We conducted a large cohort study we undertook MC1R genotyping from blood, high-sensitivity NRAS BRAF hotspots 156 naevus biopsies 134 CMN [male 40%; multiple 76%; projected adult size...
To study the mechanism of lipoprotein lipase (LPL) regulation by exercise, we recruited 16 healthy athletes to undergo a 2-wk period detraining. Fasting fat and muscle biopsies were performed both before after detraining period. In muscle, resulted in decrease LPL activity heparin-releasable (HR) (-45%, P < 0.05) cellular (extractable [EXT]) (-75%, 0.005) fractions, with no significant changes immunoreactive mass mRNA levels. However, several subjects demonstrated parallel decreases levels...
Several studies have suggested that insulin and glucose increase adipose tissue lipoprotein lipase (LPL). To study the mechanism of glucose-induced stimulation LPL, effects glycosylation were examined in primary rat adipocyte cultures. In cells cultured presence 1 mg/ml glucose, a 55-kDa LPL protein was synthesized secreted into medium, whereas glucose-free medium 49-kDa form which not secreted. The treatment mature with peptide:N-glycosidase-F resulted formation LPL. When tunicamycin, by...
The rapid growth of the brain in first few years life drives expansion cranial vault. This occurs primarily at sutures; premature fusion these results restriction perpendicular to axis suture. result this is physical deformation and facial skeleton, as well distortion underling its physiology. These patients can present with symptoms raised intracranial pressure, neurodevelopmental delay, morphological features craniosynostosis. Acquired conditions such slit ventricle syndrome may also...
Craniosynostosis has an incidence of 1 in 2000 to 2500 live births and may be corrected through several methods including total calvarial remodeling frontal orbital advancement remodeling. Blood loss during craniosynostosis surgery can substantial, ranging from 20% 500% circulating volume with a high associated risk transfusion-related adverse events. The authors performed retrospective analysis all patients undergoing for at tertiary pediatric craniofacial center focus on blood subsequent...
Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)-based methods on two-dimensional facial frontal, lateral, external ear photographs assist diagnosis for craniosynostoses vs controls, (2) screen genotype/phenotype correlations in AS, CS, PS. We included retrospectively prospectively, from 1979 2023,...
1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] is known to modulate the development of bone and other mesenchymal cell types. Since osteoblasts adipocytes are thought arise in marrow from a common progenitor, this work examined effects 1,25-(OH)2D3 on adipocyte development, particular expression lipoprotein lipase (LPL), which an early marker for differentiated adipocyte. 3T3-L1 preadipocytes were cultured presence (10(-9) 10(-7) M) up 7 days. LPL activity was measured medium extracts, messenger...
Lipoprotein lipase (LPL) is an enzyme found in adipose tissue that important the hydrolysis of triglyceride rich lipoproteins, and uptake FFA lipid into adipocyte. To examine effects glucocorticoids on LPL, male Sprague-Dawley rats were injected with dexamethasone (1 mg/kg) every other day for 10 days, followed by measurement LPL epididymal tissue. Compared to sham-injected controls, heparin-releasable activity mass dexamethasone-treated 44% 62% those control rats, respectively. Adipocytes...
Insulin-like growth factor I (IGF-I), a target hormone for (GH) action, has been shown to regulate rat GH gene transcription. We further investigated its direct action on the human transfected in choriocarcinoma cells (JEG3) which possess abundant IGF-I receptors. The 2.6 kilobase (kb) hGH (EcoRI fragment) pUC18 (phGH) was into by calcium-phosphate-dimethyl sulfoxide shock. were subsequently treated 72 h, when expression measured. 8-Bromo-cAMP (Br-cAMP, 2.5 mM) and hydrocortisone (100 nM),...
Previous studies have demonstrated that in vitro treatment of adipocytes with catecholamines results a decrease the activity enzyme lipoprotein lipase (LPL).To examine mechanism this effect, primary cultures rat were cultured presence various concentrations epinephrine (1O-9-1O-5 M).Epinephrine yielded dose-dependent LPL activity; heparinreleasable was reduced to 66% control values after exposure 10h5 M for 2 h.However, there no effect on immunoreactive mass, as measured by enzyme-linked...