Genomes and Genes
Experts and Doctors on child in Southampton, England, United Kingdom
Locale: Southampton, England, United Kingdom
Publications139 found, 100 shown here
- Bharucha T, Anderson R, Lim Z, Vettukattil J. Multiplanar review of three-dimensional echocardiography gives new insights into the morphology of Ebstein's malformation. Cardiol Young. 2010;20:49-53 pubmed publisher..Three-dimensional multiplanar review permits accurate definition of the dynamic morphology of Ebstein's malformation, permitting clear differentiation from tricuspid valvar dysplasia. ..
- Faust S, Clark J, Pallett A, Clarke N. Managing bone and joint infection in children. Arch Dis Child. 2012;97:545-53 pubmed publisher..Flowsheets for management based on the evidence reviewed are presented. ..
- Hourihane J, Grimshaw K, Lewis S, Briggs R, Trewin J, King R, et al. Does severity of low-dose, double-blind, placebo-controlled food challenges reflect severity of allergic reactions to peanut in the community?. Clin Exp Allergy. 2005;35:1227-33 pubmed..The severity of allergic reactions to food appears to be affected by many interacting factors. It is uncertain whether challenge-based reactions reflect the severity of past reactions or can predict future risk...
- Roberts G, Mylonopoulou M, Hurley C, Lack G. Impairment in quality of life is directly related to the level of allergen exposure and allergic airway inflammation. Clin Exp Allergy. 2005;35:1295-300 pubmed..20, 95% CI -0.09 to 0.49 on a seven-point scale). HRQL is related to both allergen load and allergic inflammation and the PADQLQ has excellent cross-sectional and longitudinal validity with respect to quality of life and symptoms. ..
- Currie C, Hoad K. A worldwide investigation of tuberculosis epidemics. Health Care Manag Sci. 2012;15:223-38 pubmed publisher..We conclude by proposing how the TB control programme in each country analysed should prioritise its efforts. ..
- Burke G, Hiscock A, Klein A, Niks E, Main M, Manzur A, et al. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord. 2013;23:170-5 pubmed publisher..Outcome measures need to be refined further, both to accurately reflect functional abilities in children and to document progress and treatment response. ..
- Bønnelykke K, Sleiman P, Nielsen K, Kreiner Møller E, Mercader J, Belgrave D, et al. A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet. 2014;46:51-5 pubmed publisher..These results demonstrate the strength of applying specific phenotyping in the search for asthma susceptibility genes. ..
- Ahmad Z, Lim Z, Roman K, Haw M, Anderson R, Vettukattil J. The angulation of the septal structures impacts ventricular imbalance in atrioventricular septal defects with a common atrioventricular junction. Cardiol Young. 2016;26:321-6 pubmed publisher..When this angle is above 25Â°, patients are likely to have ventricular imbalance requiring univentricular repair. ..
- Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes. Ann Hum Genet. 2000;64:277-93 pubmed..2. Thus some protection from oedema may be provided by the presence of two copies of Xq13.2. ..
- Alexiou C, Galogavrou M, Chen Q, McDonald A, Salmon A, Keeton B, et al. Mitral valve replacement with mechanical prostheses in children: improved operative risk and survival. Eur J Cardiothorac Surg. 2001;20:105-13 pubmed..Late survival is better for older children and those having no-AVSD pathology but it has improved substantially during the 1990s irrespective of age and disease aetiology. ..
- Bharucha T, Sivaprakasam M, Roman K, Vettukattil J. A multiplanar three dimensional echocardiographic study of mitral valvar annular function in children with normal and regurgitant valves. Cardiol Young. 2008;18:379-85 pubmed publisher..84 plus or minus 4.23% (p equal to 0.012). Mitral valvar annular area in children decreases in diastole, and increases in systole. In those with mitral regurgitation, the annulus is dilated and the dynamic annular function is depressed. ..
- Lim Z, Vettukattil J. Role of echocardiography in the assessment of adolescents and adults with congenital heart disease. Minerva Cardioangiol. 2009;57:389-413 pubmed..The focus of this discussion will be mainly on this subset. ..
- Cook P, Walker V. Investigation of the child with an acute metabolic disorder. J Clin Pathol. 2011;64:181-91 pubmed publisher..In order to guide further investigation, selected disorders are described briefly along with their diagnostic work-up. Information about sample collection and processing is provided. ..
- Weare K, Nind M. Mental health promotion and problem prevention in schools: what does the evidence say?. Health Promot Int. 2011;26 Suppl 1:i29-69 pubmed publisher..The implications for policy and practice around mental health in schools are discussed, including the suggestion of some rebalancing of priorities and emphases. ..
- Mitra R, Reiter J. A comparison of two methods of estimating propensity scores after multiple imputation. Stat Methods Med Res. 2016;25:188-204 pubmed publisher..The simulations suggest that the second method has greater potential to produce substantial bias reductions than the first, particularly when the missing values are predictive of treatment assignment. ..
- Postle A, Mander A, Reid K, Wang J, Wright S, Moustaki M, et al. Deficient hydrophilic lung surfactant proteins A and D with normal surfactant phospholipid molecular species in cystic fibrosis. Am J Respir Cell Mol Biol. 1999;20:90-8 pubmed
- Mann R, Pearce G, Dunn N, Shakir S. Sedation with "non-sedating" antihistamines: four prescription-event monitoring studies in general practice. BMJ. 2000;320:1184-6 pubmed..No increased risk of accident or injury was evident with any of the four drugs. Although the risk of sedation was low with all four drugs, fexofenadine and loratadine may be more appropriate for people working in safety critical jobs. ..
- Barker D, Osmond C, Kajantie E, Eriksson J. Growth and chronic disease: findings in the Helsinki Birth Cohort. Ann Hum Biol. 2009;36:445-58 pubmed publisher..Those who later develop stroke grow slowly in fetal life, infancy and during childhood. We also review how the growth of girls during infancy, childhood and at puberty influences chronic disease in the next generation. ..
- Moon R, Sutton T, Wilson P, Kirkham F, Davies J. Pituitary function at long-term follow-up of childhood traumatic brain injury. J Neurotrauma. 2010;27:1827-35 pubmed publisher..Overall, pituitary dysfunction was less prevalent than in previous studies in adults and children. The results of this study do not support the use of routine endocrine evaluation of children following TBI. ..
- Khandhadia S, Trump D, Menon G, Lotery A. X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye (Lond). 2011;25:922-8 pubmed publisher..In our case series, genotypic information did not predict the response to this treatment. ..
- Huemer M, Mulder Bleile R, Burda P, Froese D, Suormala T, Zeev B, et al. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis. 2016;39:115-24 pubmed publisher..Age at presentation and clinical pattern are correlated with residual enzyme activity. Treatment alleviates biochemical abnormalities and clinical symptoms partially. ..
- Connett G. Cystic Fibrosis Nutrition--Chewing the Fat. Paediatr Respir Rev. 2016;17:42-4 pubmed publisher..Addressing poor adherence and more targeted multi-disciplinary interventions to prevent or reverse this pattern are key to achieving better outcomes for CF patients in the future. ..
- Waterhouse P, Hill A, Hinde A. Childbearing and Economic Work: The Health Balance of Women in Accra, Ghana. Matern Child Health J. 2016;20:408-21 pubmed publisher..The results suggest there are no health penalties of combining work and childbearing among women with young children in Accra, Ghana. ..
- Ashton J, Versteegh H, Batra A, Afzal N, King A, Griffiths D, et al. Colectomy in pediatric ulcerative colitis: A single center experience of indications, outcomes, and complications. J Pediatr Surg. 2016;51:277-81 pubmed publisher..Half of patients had acute complications, and 1/3 of patients required another operation during their first admission. 1/3 of patients developed late complications. ..
- Lachlan K, Lucassen A, Bunyan D, Temple I. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet. 2007;44:579-85 pubmed..This has important counselling implications, such as advice about cancer surveillance, for children diagnosed with BRRS. ..
- Lucas J, Nieuwenhuizen N, Atkinson R, MacRae E, Cochrane S, Warner J, et al. Kiwifruit allergy: actinidin is not a major allergen in the United Kingdom. Clin Exp Allergy. 2007;37:1340-8 pubmed
- Elia M, Betts P, Jackson D, Mulligan J. Fetal programming of body dimensions and percentage body fat measured in prepubertal children with a 4-component model of body composition, dual-energy X-ray absorptiometry, deuterium dilution, densitometry, and skinfold thicknesses. Am J Clin Nutr. 2007;86:618-24 pubmed..The effects on and consequences of body build (dimensions, mass, and length of body segments) are unclear...
- Lucas J, Cochrane S, Warner J, Hourihane J. The effect of digestion and pH on the allergenicity of kiwifruit proteins. Pediatr Allergy Immunol. 2008;19:392-8 pubmed..The data indicate that commonly used methods for predicting allergenicity of novel proteins using Coomassie stains may be flawed. ..
- Modi A, Vohra H, Brown I, Langley S. Successful surgical correction of total anomalous pulmonary venous drainage in the sixth decade. Ann Thorac Surg. 2008;86:1684-6 pubmed publisher..We believe that this is the oldest person in the English literature to undergo surgical correction of TAPVD. The pathophysiology and factors for prolonged survival are further discussed. ..
- Tighe M, Afzal N, Bevan A, Beattie R. Current pharmacological management of gastro-esophageal reflux in children: an evidence-based systematic review. Paediatr Drugs. 2009;11:185-202 pubmed publisher..For older children, acid suppression is the mainstay of treatment. The largest evidence base supports the early use of H(2) receptor antagonists or proton pump inhibitors. ..
- Aurich Barrera B, Wilton L, Brown D, Shakir S. Paediatric postmarketing pharmacovigilance using prescription-event monitoring: comparison of the adverse event profiles of lamotrigine prescribed to children and adults in England. Drug Saf. 2010;33:751-63 pubmed publisher..This study demonstrated that signal detection methods can be used to detect quantitative and qualitative differences in the AE profiles between the first children and adults taking a newly licensed drug. ..
- L Esperance V, Cox S, Simpson D, Gill C, Makani J, Soka D, et al. Peripheral vascular response to inspiratory breath hold in paediatric homozygous sickle cell disease. Exp Physiol. 2013;98:49-56 pubmed publisher..g. skin ulceration. ..
- Jackson C, Behan L, Collins S, Goggin P, Adam E, Coles J, et al. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J. 2016;47:837-48 pubmed publisher..In isolation nNO screening at this cut-off would miss âˆ¼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority. ..
- Killingley B, Greatorex J, Digard P, Wise H, Garcia F, Varsani H, et al. The environmental deposition of influenza virus from patients infected with influenza A(H1N1)pdm09: Implications for infection prevention and control. J Infect Public Health. 2016;9:278-88 pubmed publisher..The air sampling results add to the accumulating evidence that supports the potential for droplet nuclei (aerosol) transmission of influenza. ..
- Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, GroÃŸe Onnebrink J, et al. An international registry for primary ciliary dyskinesia. Eur Respir J. 2016;47:849-59 pubmed publisher..98-0.22).Here, we present the development of an international PCD registry as a new promising tool to advance the understanding of this rare disorder, to recruit candidates for research studies and ultimately to improve PCD care. ..
- Vigliano P, Galloni G, Bagnasco I, Delia G, Moletto A, Mana M, et al. Sleep in children with attention-deficit/hyperactivity disorder (ADHD) before and after 6-month treatment with methylphenidate: a pilot study. Eur J Pediatr. 2016;175:695-704 pubmed publisher..e., psychostimulants, are not clear. What is new: â€¢ Our study showed that the 6-month continuous treatment with methylphenidate did not further negatively impact on sleep architecture in children with ADHD. ..
- Malan L, Baumgartner J, Zandberg L, Calder P, Smuts C. Iron and a mixture of DHA and EPA supplementation, alone and in combination, affect bioactive lipid signalling and morbidity of iron deficient South African school children in a two-by-two randomised controlled trial. Prostaglandins Leukot Essent Fatty Acids. 2016;105:15-25 pubmed publisher..5 month randomised controlled trial and might lead to a safer approach of delivering iron supplementation. The study was registered at clinicaltrials.gov as NCT01092377. ..
- An Q, Wright S, Moorman A, Parker H, Griffiths M, Ross F, et al. Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21. Haematologica. 2009;94:1164-9 pubmed publisher..This study provides insight into the breakpoint complexity underlying dicentric chromosomal formation in acute lymphoblastic leukemia and highlights putative target gene loci. ..
- Elia M, Engfer M, Green C, Silk D. Systematic review and meta-analysis: the clinical and physiological effects of fibre-containing enteral formulae. Aliment Pharmacol Ther. 2008;27:120-45 pubmed..The review indicates that the fibre-supplemented enteral formulae have important physiological effects and clinical benefits. There is a need to use a consistent approach to undertake more studies on this issue in the community setting. ..
- McNaughton R, Lynn E, Osborne V, Coughtrie A, Layton D, Shakir S. Safety of Intranasal Quadrivalent Live Attenuated Influenza Vaccine (QLAIV) in Children and Adolescents: A Pilot Prospective Cohort Study in England. Drug Saf. 2016;39:323-33 pubmed publisher..Continued enhanced surveillance of seasonal influenza vaccines will ensure their ongoing safety for the prevention of serious illness from seasonal influenza outbreaks. ..
- Stone N, Ingham R. When and why do young people in the United Kingdom first use sexual health services?. Perspect Sex Reprod Health. 2003;35:114-20 pubmed..Service use could be increased by providing more youth-specific services and by improving publicity and links between the youth, education and health sectors to dispel fears and myths about services. ..
- Theruvil B, Kapoor V, Thalava R, Nag H, Kotwal P. Vascular malformations in muscles around the knee presenting as knee pain. Knee. 2004;11:155-8 pubmed..There was no recurrence in any of the operated cases at the last follow-up. We believe that most of these lesions can be treated successfully by careful preoperative planning aided by MR imaging and a wide-open excision of the lesion. ..
- O Connell S. Lyme borreliosis: current issues in diagnosis and management. Curr Opin Infect Dis. 2010;23:231-5 pubmed publisher..Further improvements in diagnostic tests would be welcomed. More research is required to assess the causes and management of post-Lyme symptoms. ..
- Blythe H, Liversedge S, Findlay J. The effective fusional range for words in a natural viewing situation. Vision Res. 2010;50:1559-70 pubmed publisher..The data suggest that retinal inputs of a word that are disparate by up to one character (0.37 degrees) fall within the effective fusional range such that lexical decisions are not impaired. ..
- Moon R, Lim A, Farmer M, Segaran A, Clarke N, Harvey N, et al. Validity of parental recall of children's fracture: implications for investigation of childhood osteoporosis. Osteoporos Int. 2016;27:809-13 pubmed publisher..Approximately one in six fractures reported by parents to have occurred in their child's lifetime had not resulted in a fracture. One in nine children with a significant fracture history could have been investigated unnecessarily. ..
- Temple I, Shrubb V, Lever M, Bullman H, Mackay D. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet. 2007;44:637-40 pubmed..This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32...
- Gladstone R, Jefferies J, Faust S, Clarke S. Pneumococcal 13-valent conjugate vaccine for the prevention of invasive pneumococcal disease in children and adults. Expert Rev Vaccines. 2012;11:889-902 pubmed..While serotype replacement for PCV7 was observed to varying degrees for both carriage and disease, the extent to which this will occur for PCV13 is yet to be determined. ..
- Reijntjes A, Vermande M, Thomaes S, Goossens F, Olthof T, Aleva L, et al. Narcissism, Bullying, and Social Dominance in Youth: A Longitudinal Analysis. J Abnorm Child Psychol. 2016;44:63-74 pubmed publisher..Results show that among narcissistic youth only those who engage in high levels of bullying are high in social dominance. ..
- Kingdon D, Ashcroft K, Bhandari B, Gleeson S, Warikoo N, Symons M, et al. Schizophrenia and borderline personality disorder: similarities and differences in the experience of auditory hallucinations, paranoia, and childhood trauma. J Nerv Ment Dis. 2010;198:399-403 pubmed publisher..Levels of reported childhood trauma are especially high in those with a BPD diagnosis, whether they have schizophrenia or not, and this requires assessment and appropriate management. ..
- Walker W, Liew A, Harris A, Cole J, Lucas J. Upper and lower airway nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and asthma. Respir Med. 2013;107:380-6 pubmed publisher..Our findings in CF and asthma corroborate evidence that these are diseases of the lung peripheries and bronchi respectively. ..
- Kobbernagel H, Buchvald F, Haarman E, Casaulta C, Collins S, Hogg C, et al. Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia. BMC Pulm Med. 2016;16:104 pubmed publisher..EudraCT 2013-004664-58 (date of registration: 2014-04-08). ..
- Kehoe S, Krishnaveni G, Lubree H, Wills A, Guntupalli A, Veena S, et al. Prediction of body-fat percentage from skinfold and bio-impedance measurements in Indian school children. Eur J Clin Nutr. 2011;65:1263-70 pubmed publisher..0, 15.0 and -7.8, 11.7 respectively. Currently available skinfold equations do not accurately predict BF% in Indian children. We recommend development of BIA equations in this population using a four-compartment model. ..
- Amoako Johnson F, Padmadas S, Smith P. Orphanhood and vulnerability: a conduit to poor child health outcomes in Rwanda. AIDS Care. 2010;22:314-23 pubmed publisher..The results show that OVC status influences the risk of childhood morbidity both directly and indirectly and also as a conduit through which other significant proximate factors and socio-economic factors operate. ..
- Thong B, Hourihane J. Monitoring of IgE-mediated food allergy in childhood. Acta Paediatr. 2004;93:759-64 pubmed..Prospective studies of non-selected children, optimally from birth cohorts, are needed to evaluate the effects of such management programmes regarding FA in childhood. ..
- Sonuga Barke E, Brookes K, Buitelaar J, Anney R, Bitsakou P, Baeyens D, et al. Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other previously identified risk alleles for attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2008;147:316-9 pubmed..We also observed no association of other SNPs with IQ in ADHD. ..
- Deader R, Tiboni S, Malone P, Fairhurst J. Will the implementation of the 2007 National Institute for Health and Clinical Excellence (NICE) guidelines on childhood urinary tract infection (UTI) in the UK miss significant urinary tract pathology?. BJU Int. 2012;110:454-8 pubmed publisher..To investigate whether the implementation of the August 2007 National Institute for Health and Clinical Excellence (NICE) guidelines would miss significant urinary tract pathology in children with urinary tract infection (UTI)...
- Cummings A, Knibb R, Erlewyn Lajeunesse M, King R, Roberts G, Lucas J. Management of nut allergy influences quality of life and anxiety in children and their mothers. Pediatr Allergy Immunol. 2010;21:586-94 pubmed publisher..Prescribing auto-injectors is associated with reduced anxiety for food allergic children and their mothers, but is not associated with improved adherence with medical management or reduced risk-taking behavior...
- HÃ¤ndel M, Frederiksen P, Cohen A, Cooper C, Heitmann B, Abrahamsen B. Neonatal vitamin D status from archived dried blood spots and future risk of fractures in childhood: results from the D-tect study, a population-based case-cohort study. Am J Clin Nutr. 2017;106:155-161 pubmed publisher..Further studies are needed to examine fracture risk in relation to prenatal vitamin D status in a randomized controlled setting. ..
- Konstantinidis A, Barton S, Sayers I, Yang I, Lordan J, Rorke S, et al. Genetic association studies of interleukin-13 receptor alpha1 subunit gene polymorphisms in asthma and atopy. Eur Respir J. 2007;30:40-7 pubmed
- Connett G, Pike K. Nutritional outcomes in cystic fibrosis - are we doing enough?. Paediatr Respir Rev. 2015;16 Suppl 1:31-4 pubmed publisher..Whilst these are all of potential benefit, poor adherence to nutritional care recommendations is probably the greatest impediment to future health improvement. More effective strategies to impact on treatment adherence are needed. ..
- Gent E, Clarke N. Joint replacement for sequelae of childhood hip disorders. J Pediatr Orthop. 2004;24:235-40 pubmed
- Holloway J, Barton S, Holgate S, Rose Zerilli M, Sayers I. The role of LTA4H and ALOX5AP polymorphism in asthma and allergy susceptibility. Allergy. 2008;63:1046-53 pubmed publisher..17, CI 1.41-3.32). These data provide evidence for the role of SNPs spanning the ALOX5AP and LTA4H genes in asthma and atopy susceptibility in the Caucasian population and support a role for LTB(4) in disease pathogenesis. ..
- Janjua N, Bajalan M, Potter S, Whitney A, Sipaul F. Multidisciplinary care of a paediatric patient with Gradenigo's syndrome. BMJ Case Rep. 2016;2016: pubmed publisher..This case examines the presentation of this condition, and the appropriate investigations. We also highlight the importance of the involvement of multiple specialities in discussing and devising a suitable management plan. ..
- Adamson L, Vohra H, Haw M. Does pulmonary valve replacement post repair of tetralogy of Fallot improve right ventricular function?. Interact Cardiovasc Thorac Surg. 2009;9:520-7 pubmed publisher..PVR in this population appears to result in improved clinical outcome and can be performed with low mortality. ..
- Thomas C, Bisset A, Sampson M, Armstrong R. Case report: Multicentric carpal/tarsal osteolysis: imaging review and 25-year follow-up. Clin Radiol. 2006;61:892-5 pubmed
- Sonuga Barke E, Lasky Su J, Neale B, Oades R, Chen W, Franke B, et al. Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1359-68 pubmed publisher..We find evidence for the role of EE in moderating the effects of genes on ADHD severity and comorbid conduct disorder, implicating both novel and established candidates. These findings need replicating in larger independent samples. ..
- Turner C, Emery H, Collins A, Howarth R, Yearwood C, Cross E, et al. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. Am J Med Genet A. 2009;149A:161-70 pubmed publisher..005) and in those who had ectopia lentis (EL) (P < 0.0001). Other previously reported genotype-phenotype correlations were also considered and a new inverse association between a mutation in exons 59-65, and EL emerged (P = 0.002). ..
- Konn Z, Martineau M, Bown N, Richards S, Swansbury J, Talley P, et al. Cytogenetics of long-term survivors of ETV6-RUNX1 fusion positive acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2010;49:253-9 pubmed publisher..It appears that the two groups have some distinguishing cytogenetic features at the time of diagnosis, which may provide pointers to relapse that are worthy of more detailed study. ..
- Harvey N, Lillycrop K, Garratt E, Sheppard A, McLean C, Burdge G, et al. Evaluation of methylation status of the eNOS promoter at birth in relation to childhood bone mineral content. Calcif Tissue Int. 2012;90:120-7 pubmed publisher..This supports a role for eNOS in bone growth and metabolism and implies that its contribution may at least in part occur during early skeletal development. ..
- Christodoulou K, Wiskin A, Gibson J, Tapper W, Willis C, Afzal N, et al. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut. 2013;62:977-84 pubmed publisher..A unique profile of rare and potentially damaging variants was evident for each patient with this complex disease. ..
- Karamitros G, Kitsos N, Athanasopoulos F. A case of enterobiasis presenting as post-traumatic-stress-disorder (PTSD): a curious case of the infection with predominant mental health symptoms, presenting for the first time in the settings of a refugee camp. Pan Afr Med J. 2017;27:111 pubmed publisher..This infection is the first documented case of enterobiasis in the settings of a refugee camp and can highlight the unsanitary living conditions that refugees have to endure in those camps. ..
- Lachlan K, Collinson M, Sandford R, van Zyl B, Jacobs P, Thomas N. Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet. 2004;115:399-408 pubmed..We have also narrowed the putative critical interval for X-linked spina bifida...
- Roberts G. Anaphylaxis to foods. Pediatr Allergy Immunol. 2007;18:543-8 pubmed..Managing children and teenagers with anaphylaxis is challenging due to the lack of available evidence that specific addresses these issue. The available evidence is presented and discussed...
- Rowbotham I, Pit ten Cate I, Sonuga Barke E, Huijbregts S. Cognitive control in adolescents with neurofibromatosis type 1. Neuropsychology. 2009;23:50-60 pubmed publisher..Evidence was also found for more basic motor skill problems in NF1 patients. Furthermore, NF1 patients were generally slower than controls. Results are discussed in the context of what is known about brain-cognition relationships in NF1...
- Barton S, Koppelman G, Vonk J, Browning C, Nolte I, Stewart C, et al. PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline. J Allergy Clin Immunol. 2009;123:1391-400.e17 pubmed publisher..Finally, the association of PLAUR with lung function decline supports a role for PLAUR in airway remodeling in asthma. ..
- Fenwick A. Are guidelines for genetic testing of children necessary?. Fam Cancer. 2010;9:23-5 pubmed publisher..It analyses the underpinning arguments used to support this position and asks whether, given some of the problems with these, the guidelines are really necessary. ..
- Stevenson J, Sonuga Barke E, McCann D, Grimshaw K, Parker K, Rose Zerilli M, et al. The role of histamine degradation gene polymorphisms in moderating the effects of food additives on children's ADHD symptoms. Am J Psychiatry. 2010;167:1108-15 pubmed publisher..Genes influencing a range of neurotransmitter systems and their interplay with environmental factors, such as diet, need to be examined to understand genetic influences on ADHD symptoms. ..
- Davies J, Reed J, Blake E, Priesemann M, Jackson A, Clarke N. Epidemiology of vitamin D deficiency in children presenting to a pediatric orthopaedic service in the UK. J Pediatr Orthop. 2011;31:798-802 pubmed publisher..quot; 3. ..
- Lucas J, Adam E, Goggin P, Jackson C, Powles Glover N, Patel S, et al. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Hum Mutat. 2012;33:495-503 pubmed publisher..Three novel DNAH11 mutations were detected indicating that this gene should be investigated in patients with normal ciliary ultrastructure and static, as well as hyperkinetic cilia. ..
- Malone P, Hall Craggs M, Mouriquand P, Caldamone A. The anatomical assessment of disorders of sex development (DSD). J Pediatr Urol. 2012;8:585-91 pubmed publisher..In this paper we present a systematic approach to this assessment which will provide a means by which the multiple disciplines who manage patients with these rare and complex conditions can communicate and thus improve overall care...
- Gupta A, Campion Smith J, Hayes W, Deal J, Gilbert R, Inward C, et al. Positive trends in paediatric renal biopsy service provision in the UK: a national survey and re-audit of paediatric renal biopsy practice. Pediatr Nephrol. 2016;31:613-21 pubmed publisher..0008) and major complications (15.3Â % vs 3.3Â %, Pâ€‰=â€‰0.0015) compared with 16-gauge needles. Percutaneous renal biopsy remains a safe procedure in children, thus improving family-centered service provision in the UK. ..
- Anand S, Tong H, Besag F, Chan E, Cortese S, Wong I. Safety, Tolerability and Efficacy of Drugs for Treating Behavioural Insomnia in Children with Attention-Deficit/Hyperactivity Disorder: A Systematic Review with Methodological Quality Assessment. Paediatr Drugs. 2017;19:235-250 pubmed publisher..There is generally poor evidence for prescribing drugs for behavioural insomnia in children with ADHD. Further controlled studies are warranted. ..
- Centeno M, Tierney T, Perani S, Shamshiri E, St Pier K, Wilkinson C, et al. Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy. Ann Neurol. 2017;82:278-287 pubmed publisher..EEG-fMRI combined with ESI provides a simple unbiased localization that may predict surgery better than each individual test, including in MRI-negative patients. Ann Neurol 2017;82:278-287. ..
- Prieto J, Murphy C, Moore K, Fader M. WITHDRAWN: Intermittent catheterisation for long-term bladder management. Cochrane Database Syst Rev. 2017;8:CD006008 pubmed publisher..Such trials should include analysis of cost-effectiveness because there are likely to be substantial differences associated with the use of different catheter designs, catheterisation techniques and strategies. ..
- Sayers I, Barton S, Rorke S, Sawyer J, Peng Q, Beghe B, et al. Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population. Clin Exp Allergy. 2003;33:1103-10 pubmed..23) genotypes and no allele was associated with asthma or asthma-related phenotypes. Taken together, these data do not support a significant role for these polymorphisms in genetic susceptibility to asthma in the Caucasian population. ..
- Maniadaki K, Sonuga Barke E, Kakouros E. Trainee nursery teachers' perceptions of disruptive behaviour disorders; the effect of sex of child on judgements of typicality and severity. Child Care Health Dev. 2003;29:433-40 pubmed..The child's sex affected trainee teachers' judgements of typicality, but not severity, of children's behaviour problems. The implications of this finding for socialization practices and referral attitudes are discussed. ..
- Williamson I, Benge S, Barton S, Petrou S, Letley L, Fasey N, et al. A double-blind randomised placebo-controlled trial of topical intranasal corticosteroids in 4- to 11-year-old children with persistent bilateral otitis media with effusion in primary care. Health Technol Assess. 2009;13:1-144 pubmed publisher..To determine the clinical effectiveness and cost-effectiveness of topical mometasone in children with bilateral otitis media with effusion (OME)...
- Turner C, Mackay D, Callaway J, Docherty L, Poole R, Bullman H, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet. 2010;18:648-55 pubmed publisher..002). This study in patients with growth restriction shows the importance of widening the epigenetic investigation to include multiple imprinted loci and highlights potential involvement of the IGF2R locus...