Abstract:
:Pharmacogenomics research is becoming more prevalent in both academia and the pharmaceutical industry. While some discoveries have been integrated into practice and are benefiting patient care, these successes have been limited given the vast amount of research undertaken. However, the advances in high-throughput genomic technologies, better study designs and improved understanding of complexity, means that pharmacogenomic determinants of drug response will continue to be identified. It is important to develop an understanding of the basis of pharmacogenomics in clinical teams to allow accurate interpretation of the findings, and facilitate their implementation into clinical care (if appropriate). This article explains the science behind pharmacogenomics, and describes some of the challenges that have been encountered in the field, with a specific focus on paediatrics.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Hawcutt DB,Thompson B,Smyth RL,Pirmohamed Mdoi
10.1136/archdischild-2012-302852subject
Has Abstractpub_date
2013-03-01 00:00:00pages
232-7issue
3eissn
0003-9888issn
1468-2044pii
archdischild-2012-302852journal_volume
98pub_type
杂志文章,评审abstract::Histological examination of the breasts of 26 infants and young children who died suddenly between the ages of 3 weeks and 2 years was performed. The glands were composed of well formed lobules surrounded by dense interlobular stroma, while within the lobules there was looser connective tissue. The lobules contained d...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.2.136
更新日期:1988-02-01 00:00:00
abstract::Six children with congenital heart disease are described in whom poor growth was found to be due to small-bowel villous atrophy; none was in heart failure and only one was severely cyanosed. Growth improved in all 6 on a gluten-free diet. Gluten enteropathy may be more common than is realised in children with congenit...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND AND AIMS:There are few standardised questionnaires for the assessment of respiratory symptoms in preschool children. We have developed and tested the short-term repeatability of a postal questionnaire on respiratory symptoms for 1-year-old children. METHODS:A newly developed postal questionnaire for the ass...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2007.117978
更新日期:2007-10-01 00:00:00
abstract::Lung function measurements with and without a disposable bacterial filter were compared in 60 children. Although statistically significant, the reduction of lung function measurements caused by using bacterial filters was small and clinically irrelevant (2-4% of predicted for forced expiratory volume in one second and...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.85.4.346
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVE:To establish whether changes of lung transfer for carbon monoxide (TLCO) are related to the phase of IgA nephropathy. METHODS:Respiratory function was tested in 12 children with IgA nephropathy assessed by percutaneous renal biopsy. This was done during acute exacerbations or haematuria-free phases of the di...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.74.3.236
更新日期:1996-03-01 00:00:00
abstract::A 9 year old boy with intractable postprandial reflex vomiting was taught a self hypnotherapy technique incorporating relaxation exercises, mental imagery, and suggestions of symptom relief. The sequence was recorded on a personal stereo cassette tape. Vomiting was completely eliminated within four weeks. At 12 month ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.6.626
更新日期:1990-06-01 00:00:00
abstract::Cellobiose and mannitol absorption were studied in patients with suspected abnormal function of the small bowel mucosa. The urinary cellobiose:mannitol ratio was increased in subtotal villous atrophy, iron deficiency anaemia, and small intestinal Crohn's disease. The test seems a sensitive indicator of the integrity o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.6.853
更新日期:1989-06-01 00:00:00
abstract:OBJECTIVE:To investigate possible renal toxicity of long-term gentamicin inhalation in patients with cystic fibrosis. METHODS:Urinary N-acetyl-beta-D-glucosaminidase (NAG) activity was measured during routine respiratory clinic visits. Outpatient records were reviewed for data on long-term gentamicin inhalation, and p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.78.6.540
更新日期:1998-06-01 00:00:00
abstract::The British (Tanner and Whitehouse) and American (National Center for Health Statistics, NCHS) growth standards are widely used internationally, although the data are now over 30 years old. Routine weight data was retrieved from the child health records of a complete annual cohort of 3418 children aged 18-30 months to...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.4.420
更新日期:1993-10-01 00:00:00
abstract:OBJECTIVES:Healthy-weight children tend to gain weight during winter but lose weight during summer. However, overweight elementary school children have shown accelerated summertime weight gain. Whether this seasonal growth variation occurs during preschool period is of substantial interest. METHODS:Data were derived f...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2018-314862
更新日期:2019-01-01 00:00:00
abstract::Clinically useful criteria were found by studying immunological functions on admission in 15 African children with acute hepatitis (AH) (11 of whom were HBsAg positive) and in 11 children with fulminant hepatic failure (FHF) (8 of whom were HBsAg positive), and by comparing these results with normal controls. Nine of ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.4.277
更新日期:1982-04-01 00:00:00
abstract::A trial was conducted using sequential analysis by pairs to compare the efficacy of corticosteroids and salicylates in the treatment of acute rheumatic carditis. The results show a significantly favourable effect of steroid treatment both in clinical response and in reduction of the erythrocyte sedimentation rate. In ...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.59.5.410
更新日期:1984-05-01 00:00:00
abstract:BACKGROUND:Epidemics of enterovirus 71 infection have caused the death of many children throughout the world. Rhombencephalitis, brain stem encephalitis, and heart failure were present in all of the fatal cases. However, no evidence of myocarditis was noted in the heart specimens, and the mechanism of heart failure rem...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.029645
更新日期:2004-04-01 00:00:00
abstract::Doppler ultrasound measurements of pulmonary blood flow in 20 babies with severe respiratory distress syndrome treated in a randomised controlled trial of surfactant replacement showed that the immediate improvement of oxygenation was not associated with a significant increase in pulmonary blood flow. Reduction in ven...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.64.1_spec_no.13
更新日期:1989-01-01 00:00:00
abstract::The auditory function of 370 infants, drawn from both low and high risk groups, was tested before postnatal discharge using three tests: standard auditory brain stem responses (ABR), automated analysis of ABR, and automated analysis of evoked otoacoustic emissions (OAE). All infants failing any neonatal test had furth...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.10_spec_no.1124
更新日期:1991-10-01 00:00:00
abstract::The relation between intraventricular haemorrhage (IVH) and hyaline membrane disease (HMD) was studied in singletons that came to necropsy at Hammersmith Hospital over the years 1966-73. The incidence of IVH in singleton live births was 3-22/1000 and of HMD 4-44/1000. Although the high figures were partily due to the ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.10.755
更新日期:1976-10-01 00:00:00
abstract::We describe our technique of small bowel biopsy, which has been used on 190 occasions over a four year period. In 77%, the examination was completed within 10 minutes, and fluoroscopy times were less than 10 seconds in 75% of the cases. The technique is easily taught, and it has made the examination a minor procedure....
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.11.1082
更新日期:1985-11-01 00:00:00
abstract::In 10 children with cystic fibrosis and persisting steatorrhoea, supplementation with taurine (30-40 mg/kg/day) was given for two months as an adjunct to the usual pancreatic enzyme treatment. A three day fat and energy balance was performed in patients with cystic fibrosis, before and after the supplementation, and i...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.9.1082
更新日期:1992-09-01 00:00:00
abstract:BACKGROUND:The epidemiology of congenital infections is ever changing, with a recent resurgence in syphilis infection rates seen in the UK. Identification of congenital infection is often delayed; early recognition and management of congenital infections is important. Testing modalities and investigations are often lim...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2020-318841
更新日期:2021-02-01 00:00:00
abstract::In a five year period, 39 children (29 boys, 10 girls) aged 2 months to 13 years (mean 7.8 years) were studied who had suffered a major head injury (29 road traffic accidents, six falls, and four non-accidental injury). The injury had been assessed clinically and by cranial computed tomography or cranial ultrasound (i...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.12.1430
更新日期:1992-12-01 00:00:00
abstract::Because the incidence of both neonatal respiratory distress syndrome and neonatal mortality can be reduced by giving corticosteroids to women expected to deliver preterm and by giving surfactant to babies at high risk of developing hyaline membrane disease, we have considered what effects the adoption of one or both o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.7_spec_no.757
更新日期:1991-07-01 00:00:00
abstract::Transient hyperphosphatasaemia is usually a chance finding arising from the use of biochemical screening profiles. Clinical correlates in cases so far described have been non-specific. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.10.996
更新日期:1984-10-01 00:00:00
abstract:OBJECTIVES:To assess bone and collagen turnover in asthmatic children treated with dry powder budesonide from the Turbuhaler and dry powder beclomethasone dipropionate from the Diskhaler in a dose of 800 micrograms/day. SUBJECTS:Thirteen prepubertal children with asthma. DESIGN:Open crossover study with two treatment...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.73.6.524
更新日期:1995-12-01 00:00:00
abstract::Maternal transmission of hepatitis B virus infection in relation to the hepatitis B e antigen/antibody system and serum hepatitis B virus-DNA were evaluated. Results indicate that hepatitis B virus-DNA analysis can identify hepatitis B serum antigen positive mothers who may transmit infection to their offspring. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.1.56
更新日期:1985-01-01 00:00:00
abstract:BACKGROUND:Children receiving chemotherapy for acute lymphoblastic leukaemia (ALL) may be susceptible to skeletal morbidity. AIM:To determine the incidence and risk factors for skeletal morbidity in ALL children. PATIENTS AND METHODS:The medical records of all (n=186, boys=110) children presenting to a single centre ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.172528
更新日期:2010-10-01 00:00:00
abstract::Information is presented about 19 children, under age 7 years, from 17 families, whose mothers consistently gave fraudulent clinical histories and fabricated signs so causing them needless harmful medical investigations, hospital admissions, and treatment over periods of time ranging from a few months to 4 years. Epis...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.2.92
更新日期:1982-02-01 00:00:00
abstract::In a prospective follow up of 116 high risk infants, a 24 hour behavioural chart on seven consecutive days was analysed at seven and 12 weeks of age. Of children who manifested atopic disease at 2 years, 44/116 (38%), had shown significantly more fussing during the seventh, and colic type cry during the twelfth week t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.84.4.349
更新日期:2001-04-01 00:00:00
abstract:OBJECTIVE:There is a body of published research on the effectiveness of home visiting for the prevention of child maltreatment, but little in the peer reviewed literature on cost-effectiveness or value to society. The authors sought to determine the cost-effectiveness of alternative home visiting programmes to inform p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2011-300795
更新日期:2012-09-01 00:00:00
abstract::Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concen...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.5.628
更新日期:1992-05-01 00:00:00
abstract::The frequency of negative hydrogen breath tests due to colonic bacterial flora which are unable to produce hydrogen was determined after oral lactulose challenge in 98 healthy Dutch schoolchildren. There was a negative result in 9.2%. The probability of a false normal lactose breath test (1:77) was calculated from the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.4.333
更新日期:1985-04-01 00:00:00