A5057947699- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Bone fractures and treatments
- Parathyroid Disorders and Treatments
- Reflective Practices in Education
- Congenital Diaphragmatic Hernia Studies
- Vitamin D Research Studies
- Innovations in Medical Education
- Connective tissue disorders research
- Diabetes and associated disorders
- Neurogenetic and Muscular Disorders Research
- Folate and B Vitamins Research
- Higher Education Learning Practices
- Bone health and osteoporosis research
- Congenital heart defects research
- Bone health and treatments
- Pharmacological Effects and Toxicity Studies
- Muscle Physiology and Disorders
- Childhood Cancer Survivors' Quality of Life
- Diabetes Management and Research
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pancreatic function and diabetes
Hadassah Academic College
2024
Leeds Teaching Hospitals NHS Trust
2017-2023
University of Leeds
2021-2023
St James's University Hospital
1987-2022
Birmingham Children's Hospital
2006-2019
University of Birmingham
2018
St. Vincent's Birmingham
2015
University Hospital of North Durham
2015
University of Liverpool
1993-2013
Alder Hey Children's Hospital
1993-2013
Deterioration in mental health has been reported a minority of individuals with cystic fibrosis starting elexacafor/tezacaftor/ivacaftor (ELX/TEZ/IVA). We report our experience using sweat chloride and markers clinical stability to titrate dose reduction the aim minimising adverse events maintaining stability.Adults (n = 266) prescribed ELX/TEZ/IVA, were included. Adverse events, chloride, lung function data collected.Nineteen (7.1%) anxiety, low mood, insomnia "brain fog" reduced attention...
<b>Background:</b> Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into three forms: infantile malignant autosomal recessive osteopetrosis (ARO), intermediate (IRO), and dominant (ADO). <b>Methods:</b> We studied 49 patients, 21 with ARO, one IRO, 27 type II ADO (ADO II). <b>Results:</b> Most ARO patients bore known or novel (one case) ATP6i (TCIRG1) gene mutations. Six had no mutations in ClCN7, the only so far recognised implicated, suggesting...
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heterozygous germline were identified in HDR. These consisted three nonsense mutations, six frameshifting deletions, two insertions, one missense (Leu348Arg) mutation acceptor splice site mutation. was...
The bone mineral density of the lumbar spine was assessed in nine non-ambulant children with cerebral palsy combined measurements serum 25-hydroxyvitamin D, parathyroid hormone, and urinary calcium excretion. Three recurrent fractures received treatment bisphosphonates for periods ranging from 12-18 months. All demonstrated a severe reduction even when allowance made their body weight. There were no consistent abnormalities vitamin D or hormone status. had gross hypercalciuria. Each treated...
Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by presence skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency widened diaphyses. At histopathological level, there a paucity osteoclasts when disease presents. In two patients DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 whole-exome sequencing. This gene encodes nucleoside transporter, which cause...
Although GH replacement improves the features of deficiency (GHD) in adults, it has yet to be established whether cessation at completion childhood growth results adverse consequences for adolescent with GHD. Effects continuation or on body composition, insulin sensitivity, and lipid levels were studied 24 adolescents (13 males, 11 females, aged 17.0 ± 0.3, yr, mean se, puberty stage 4 5) whom height velocity was less than 2 cm/yr. Provocative testing confirmed severe GHD [peak < 9 mU/liter...
In many countries, treatment of childhood-onset GH deficiency (GHD) with ceases when linear growth is complete. Peak bone mass occurs several years after the completion growth. Given that has important anabolic actions on bone, discontinuation therapy at may have adverse consequences for attainment peak in adolescent GHD patients. this United Kingdom multicenter study, 24 adolescents (13 males, mean age 17.0 ± 1.4 yr, sd) severe were randomized to discontinue or continue (0.35 IU/kg·wk)...
Summary Objectives Mutations in the genes encoding transcription factors PROP1 and POUF‐1 (Pit‐1) have been reported as common causes of combined pituitary hormone deficiency (CPHD), HESX1 mutations identified children with septo‐optic dysplasia (SOD). There are few data on UK children. We performed mutation analysis a large cohort affected within West Midlands region to assess feasibility screening strategy for molecular diagnosis CPHD SOD. Design Patients The three coding exons PROP1, six...
The most serious complication of subcutaneous fat necrosis (SCFN), a rare condition the newborn characterized by indurated purple nodules, is hypercalcaemia. However, mechanism for this hypercalcaemia remains unclear.To determine whether associated with SCFN involves expression vitamin D-activating enzyme 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-hydroxylase) in affected tissue.Skin biopsies from two male patients and were taken. histological specimens assessed using polyclonal...
The anatomical defect in congenital diaphragmatic hernia (CDH) can usually be closed primarily but prosthetic patch repair may required newborns with a deficient diaphragm. High rates of failure and recurrence (up to 50 per cent) have been reported. This study evaluated contemporary outcomes following CDH at UK paediatric surgical centre.Medical records undergoing surgery for between 1 February 1990 November 2010, attending multidisciplinary follow-up clinic, were examined. Operative details...
GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators development, present in vertebrates and some invertebrates. In man, encodes 506 amino acid parathyroid gland-specific protein, mutations have been reported to cause both autosomal dominant recessive hypoparathyroidism. We ascertained 18 affected individuals from 12 families with hypoparathyroidism investigated them for abnormalities. Four different homozygous germline were...
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, is little information the final height achieved puberty. Growth data 40 (20 female 20 male) aged 2-31 years were collected. These showed that syndrome excessively tall at birth, during infancy, childhood. Disproportionately long limbs constitute much of increase stature. However, combination advanced bone age early onset menarche led to a mean (SD) 172.9 (5.7) cm women. This within normal range...
One hundred mothers and 50 medical students doctors were interviewed to examine their understanding of eight common probability expressions as they are used in statements the kind that regularly make babies. Respondents asked translate each term into a number on scale from 0 10. There was wide range interpretation expressions, significant differences found between group for seven expressions. Most expressed preference receiving information numerical terms. We advise verbal should be...
OBJECTIVE Osteoporosis is a recognized problem in adult women with Turner's syndrome, the aetiology of which unclear. The aim this study was to examine bone mineralization longitudinally group girls syndrome and effect different treatments on mineral density. DESIGN A prospective observational study. PATIENTS Eighteen aged 4–17 years attending paediatric endocrine clinic. MEASUREMENTS Bone density lumbar spine assessed using dual energy X‐ray absorptiometry at several time points over...
Summary background Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS). objective To assess presentation, diagnosis, radiological imaging, treatment and molecular analysis patients with childhood‐onset CS due to PNAH. Four males two females (median age 12·9 years, range 10·9–16·9 years) were studied. results All had growth failure (mean height SDS −1·2; −2·5–0·0), weight gain [mean body mass index (BMI)...
Up to date reference ranges were established for fasting renal excretion of calcium, phosphorus, and magnesium on 101 healthy children aged 2-15 years. A normal range intact parathyroid hormone was also measured. The indices calcium showed no correlation with age or sex so that a common all could be established. 97th centile values urinary calcium:creatinine magnesium:creatinine ratios 0.69 mmol:mmol 1.05 respectively. calculated tubular maximum phosphate/litre glomerular filtrate...
The efficacy of antibiotic treatment in pulmonary and systemic infections cystic fibrosis (CF) is limited by the increased prevalence MDR strains Pseudomonas aeruginosa Burkholderia cepacia complex. Ceftazidime/avibactam a new combination which, vitro, appears to have good activity against P. B. complex.A retrospective analysis was performed including adult patients with CF who received at least one course ceftazidime/avibactam owing exacerbations not responding conventional...
<h3>AIM</h3> To determine the consequences of renal calcification in preterm infants. <h3>METHODS</h3> A cohort 11 babies was studied at age 4 to 5 years. They had as neonates. Seventeen matched controls were also studied. Each child a ultrasound scan, calcium load test, and desmopressin test for concentrating ability (RCA). The study group glomerular filtration rate (GFR) estimated, using height:creatinine ratio, tubular phosphate reabsorption, without load, per (Tp/GFR) calculated....
Adult use of cigars, cigarillos, and little cigars has increased over the past two decades; however, is known about characteristics users. The data were derived from 5 years (2003–2007) Cuyahoga County Behavioral Risk Factor Surveillance Survey, a random digit–dialed telephone survey conducted by ICF Macro International, based on methods Ohio BRFSS. Results indicate that prevalence current cigarette smoking across was 23.1%. Cigar cigar reported 4.3% 3.3% respondents, respectively. Compared...