A5052523491- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Adrenal Hormones and Disorders
- Birth, Development, and Health
- Pituitary Gland Disorders and Treatments
- Hormonal and reproductive studies
- Hormonal Regulation and Hypertension
- Metabolism and Genetic Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pregnancy and preeclampsia studies
- Diabetes Management and Research
- Diet and metabolism studies
- Hypothalamic control of reproductive hormones
- Thyroid Disorders and Treatments
- Diabetes and associated disorders
- Lipid metabolism and disorders
- Pancreatic function and diabetes
- Gestational Diabetes Research and Management
- Childhood Cancer Survivors' Quality of Life
- Connective tissue disorders research
- Regulation of Appetite and Obesity
- Stress Responses and Cortisol
- Urological Disorders and Treatments
- Reproductive Biology and Fertility
- Adipose Tissue and Metabolism
University College London
2014-2023
Royal London Hospital
2003-2023
Great Ormond Street Hospital
2007-2021
Great Ormond Street Hospital for Children NHS Foundation Trust
2020
National and Kapodistrian University of Athens
2015
University College Hospital
1999-2015
Royal College of Paediatrics and Child Health
2002-2011
University of London
1990-2009
Middlesex Hospital
1991-2005
North Middlesex Hospital
1990-2004
SUMMARY We have performed 24 h growth hormone (GH) profiles in 50 short prepubertal children aged between 5.2 and 12‐9 years, growing with height velocity standard deviation scores (SDS) 0.4 ‐3.9. There was an asymptotic relationship spontaneous G H secretion described by the equation: SDS = A – B(e cx ) , where B C are constants x is a measure of secretion. considered pulse amplitude to be better description as duration (the time component area under curve) contributed little pulse. The...
Kinase suppressor of Ras 2 (KSR2) is an intracellular scaffolding protein involved in multiple signaling pathways. Targeted deletion Ksr2 leads to obesity mice, suggesting a role energy homeostasis. We explored the KSR2 humans by sequencing 2,101 individuals with severe early-onset and 1,536 controls. identified rare variants that disrupt through Raf-MEK-ERK pathway impair cellular fatty acid oxidation glucose transfected cells; effects can be ameliorated commonly prescribed antidiabetic...
This study was undertaken to determine whether the production of melatonin, a hormone regulating sleep in relation light/dark cycle, is altered Huntington's disease. We analyzed circadian rhythm melatonin 24-hour cohorts control, premanifest, and stage II/III disease subjects. The mean acrophase concentrations were significantly reduced subjects compared with controls. also observed nonsignificant trend toward premanifest Onset rise more temporally spread both A seen for pulsatile secretion...
Exogenous glucocorticoids are known to increase the risk of osteoporosis. However, contribution made by endogenous circulating cortisol concentrations adult skeletal status remains unknown. We examined this issue in a sample 34 healthy men, aged 61–72 yr. Venous blood samples were obtained under standard conditions every 20 min over 24-h period. Measurements serum and cortisol-binding globulin. Bone mineral density was measured at lumbar spine proximal femur using dual energy x-ray...
We have performed a retrospective analysis of the pubertal parameters 134 children with isolated GH insufficiency on treatment and compared them to standards Tanner recent longitudinal study growth development in United Kingdom. The age at onset puberty (13.0 years boys, 12.1 girls) was found be significantly delayed (Mann-Whitney p less than 0.001), but duration (1.5 both sexes) shortened (Kolgomarov-Smirnov 0.01). Skeletal maturity not advanced excluding this as contributory factor. There...
Adrenal hypoplasia congenita (AHC) is an X-linked disorder caused by mutations in a gene referred to as DAX-1. AHC characterized adrenal insufficiency and failure undergo puberty because of hypogonadotropic hypogonadism. The DAX-1 protein structurally related orphan nuclear receptors, although it lacks the characteristic zinc finger DNA-binding domain that highly conserved other members this family. In report, we describe clinical features genetic alterations six families with AHC. These...
ABSTRACT We have investigated the adrenal response, in eight healthy adult men, to low doses of ACTH(1–24) order define a dose which will elicit response similar that obtained with short Synacthen test. The studies were performed at 14.00 h and blood samples withdrawn 5-min intervals after an i.v. bolus injection ACTH(1–24). sampling interval was crucial determining timing peak response. Using times 0, 10, 15, 20, 25 30 min ensured detection 47 out 48 peaks. A dose-dependent rise plasma...
GH is increasingly used for treatment of children and adults. It mitogenic, however, there therefore concern about its safety, especially when to treat cancer patients who have become deficient after cranial radiotherapy. We followed 180 with brain tumors attending three large hospitals in the United Kingdom treated during 1965-1996, 891 at these received radiotherapy but not GH. Thirty-five first recurrences occurred GH-treated 434 untreated children. The relative risk recurrence compared...
The aetiology of 197 girls and 16 boys presenting with sexual precocity was reviewed. Ninety one four had central precocious puberty (M:F 23:1); a cause identified in all the but only six girls. All need detailed investigation; investigation should be based on clinical findings, particularly consonance puberty.
To evaluate the natural history and timing of adiposity rebound (nadir body mass index (BMI)) in children with congenital adrenal hyperplasia 21-hydroxylase deficiency (CYP21).A retrospective mixed longitudinal study.Height changes composition (BMI; weight (kg)/height2 (m)), triceps subscapular skinfolds) were analysed 22 (14 girls, eight boys) prepubertal patients CYP21 for whom continuous anthropometric data available at least seven years. BMI height SD scores compared 1, 5, 10 years age....
OBJECTIVE To validate continuous glucose monitoring (CGM) in children and adolescents with cystic fibrosis. RESEARCH DESIGN AND METHODS Paired oral tolerance tests (OGTTs) CGM was undertaken 102 fibrosis (age 9.5–19.0 years) at baseline (CGM1) after 12 months (CGM2). validity assessed by reliability, reproducibility, repeatability. RESULTS reliable a Bland-Altman agreement between OGTT of 0.81 mmol/l (95% CI for bias ± 2.90 mmol/l) good correlation the two (r = 0.74–0.9; P < 0.01)....
In rodents and humans there is a sexually dimorphic pattern of GH secretion that influences the serum concentration IGF-I. Pattern differences can be identified in children, but it not known how early this difference established. We studied plasma concentrations IGF-I, IGF-II, IGF-binding protein-3 (BP-3), cord blood taken from offspring 1650 singleton Caucasian pregnancies born at term related these values to birth weight, length, head circumference. Pregnancies complicated by preterm...
Summary background Classical congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, hyperandrogenism, impaired medullary function insulin insensitivity. The latter along with the increased tendency towards obesity raises questions whether other cardiovascular risk factors are altered CAH. objective To evaluate 24‐h ambulatory blood pressure patients salt‐wasting 21‐hydroxylase deficiency diagnosed neonatal period treated hydrocortisone...
Maternal smoking during pregnancy is associated with a reduction in birth size. Very few studies have collated changes fetal biometry, neonatal anthropometry, biochemical factors involved growth, and measures of uterine umbilical blood flow.We related status 1650 low-risk, singleton Caucasian pregnancies delivering at term to artery flow, placental appearance, size, cord concentrations IGF-I -II IGF binding protein (IGFBP)-3.Mothers who smoked were younger (P < 0.001) shorter = 0.03) from...
<h3>ABSTRACT</h3> Rhythmic spatial gene expression patterns termed the segmentation clock regulate vertebrate body axis during embryogenesis. The integrity of these requires local synchronization between neighboring cells by Delta-Notch signaling and its inhibition results in defective segment boundaries. oscillating tissue deforms substantially throughout development, but whether such tissue-scale morphogenesis complements pattern generation formation is not understood. Here, we investigate...
WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • Increasing antidiabetic drugs use in youths has been reported the USA, however there is a lack of epidemiological evidence UK. There an increase prevalence both type 1 and 2 diabetes, but precise estimates are difficult to obtain as such uninformative for future health services planning. STUDY ADDS The children receiving insulin oral increased twofold eightfold, respectively, between 1998 2005. data reflect diabetes rapidly recent years. drug...