Abstract:
:We describe a non-progressive choreo-athetoid disorder of early onset, present in three families. There were no appreciable abnormalities in pregnancy, during the perinatal period, or in infancy. In each case the family history suggested transmission as an autosomal dominant trait, the gene showing diminished penetrance. Other families have been reported with the disorder and such titles as benign familial chorea, familial essential (benign chorea, or hereditary non-progressive chorea of early onset have been given to it. Our experience suggests that this is not a rare disorder, and that it is one likely to present in the paediatric age group; correct diagnosis is important so that unnecessary investigations are not undertaken, genetic counselling can be given, and proper management advice offered to families and schools.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Sleigh G,Lindenbaum RHdoi
10.1136/adc.56.8.616subject
Has Abstractpub_date
1981-08-01 00:00:00pages
616-21issue
8eissn
0003-9888issn
1468-2044journal_volume
56pub_type
杂志文章abstract::School medical records of 1000 children born in 1981 were studied retrospectively. They showed that once known medical problems and those screened for by the school nurse (hearing, vision, growth) were excluded, only 17 problems requiring treatment were discovered: speech (n = 10), development (n = 3), undescended tes...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.2.225
更新日期:1990-02-01 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: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:AIM:To investigate the epidemiology, clinical profile and risk factors of pseudotumor cerebri syndrome (PTCS) in children aged 1-16 years. METHODS:A national prospective population-based cohort study over 25 months. Newly diagnosed PTCS cases notified via British Paediatric Surveillance Unit were ascertained using cla...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2016-312238
更新日期:2017-08-01 00:00:00
abstract:INTRODUCTION:Aerosol therapy in infants may be greatly compromised by face mask rejection due to squirming and crying. Lung aerosol deposition in crying infants may thereby be greatly reduced. Since 'suckling' on a pacifier calms infants, they should more readily accept a face mask that incorporates a pacifier. However...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/archdischild-2011-301236
更新日期:2012-06-01 00:00:00
abstract:AIMS:To obtain information about the health and well being of 108 boys six years after their involvement with the same paedophile. METHODS:Case-control study of the health records of 93 male victims of a major episode of school based child sexual abuse and 93 matched controls. Interviews with a sample of their general...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.3.164
更新日期:2002-03-01 00:00:00
abstract::This study describes the pattern of oxygen consumption (VO2), rectal temperature (Tr), and acral skin temperature (Tac) in sleeping and resting (awake) burned children nursed in a thermoneutral environment. Measurements of respiratory gas exchange (VO2 and carbon dioxide production (VCO2)) were made using an open circ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.1.31
更新日期:1994-07-01 00:00:00
abstract::Nerve growth factor (NGF) is the first described neurotrophin that stimulates the growth and differentiation of nerve cells and promotes skin and peripheral tissue regeneration. Recent studies suggest that NGF influences endothelial cell proliferation and angiogenic activity. In view of these proposed regenerative eff...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.87.5.446
更新日期:2002-11-01 00:00:00
abstract::Eithe low birthweight infants were studied for their metabolic and hormonal responses to intravenous alimentation when the caloric input was varied. The study was made during three consecutive 12-hour periods, when solutions of glucose, glucose and amino-acids, and glucose and amino-acid and lipids were successively i...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.7.499
更新日期:1979-07-01 00:00:00
abstract::A 12 year old boy presented with primary nocturnal enuresis. Investigation showed extensive bilateral nephrocalcinosis of no obvious or recognised cause. Persistent severe renal hypercalciuria was confirmed by an intravenous calcium infusion. Idiopathic hypercalciuria is not a common cause of nephrocalcinosis and has ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.7.1055
更新日期:1989-07-01 00:00:00
abstract::Chlamydia trachomatis was identified in 37 of 73 consecutive neonates with purulent conjunctivitis, including four delivered by caesarean section with intact membranes. Most (28/37) presented in the first week. Infection was significantly associated with referral from the community. Genital C. trachomatis infection wa...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.8.797
更新日期:1986-08-01 00:00:00
abstract::The neurodevelopmental state of 41 children with congenital cytomegalovirus infection and their controls was assessed at 2 years using the Griffiths scale. The scores achieved by children with congenital cytomegalovirus but with no associated neurological abnormality (asymptomatic) were similar to those of the control...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.4.323
更新日期:1986-04-01 00:00:00
abstract:AIM:To assess the provision of UK paediatric and adolescent diabetes services and examine changes in service delivery since 2002. METHOD:Questionnaires were sent to the lead paediatric consultant from all paediatric and adolescent diabetes services (n=205). Questions were based on National Institute for Health and Cli...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2009.176925
更新日期:2010-10-01 00:00:00
abstract::During the 6-year period from 1 October 1971 to 30 September 1977, 13 (about 1%) of 1225 admissions to hospital with asthma developed severe ventilatory failure (peak arterial PCO 2 greater than 8 kPa). Mean age was 4.1 years (2.3--7.9), and on average each patient had been admitted to hospital on 5 occasions during t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.9.714
更新日期:1978-09-01 00:00:00
abstract:OBJECTIVE:To study the temporal relationship between socioeconomic disadvantage and onset of chronic disabling conditions in childhood. METHOD:Using parent reported data from the Longitudinal Study of Australian Children, we compared children who developed a chronic disabling condition between the ages of 6/7 and 10/1...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305634
更新日期:2015-04-01 00:00:00
abstract::The introduction of chemoprophylaxis with rifampicin and isoniazid in 1981 significantly reduced the incidence of tuberculosis. Between 1978 and 1981 children accounted for 136 of 642 notified cases, and this was reduced to 55 of 418 between 1982 and 1986. This effect was most obvious among children from the Indian su...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.10.1005
更新日期:1987-10-01 00:00:00
abstract:AIMS:To review the precipitating events, clinical features, treatment, and outcome of macrophage activation syndrome (MAS). METHODS:Retrospective review of cases of MAS from a prospectively collected database of children with rheumatic diseases from 1980 to 2000. RESULTS:Nine patients (eight girls) were considered to...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.85.5.421
更新日期:2001-11-01 00:00:00
abstract::Simplified guidelines for the emergency care of children have been developed to improve the triage and rapid initiation of appropriate emergency treatments for children presenting to hospitals in developing countries. The guidelines are part of the effort to improve referral level paediatric care within the World Heal...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.6.473
更新日期:1999-12-01 00:00:00
abstract:AIMS:To document the patterns of presentation and outcome of severe anticholinesterase insecticide poisoning in children requiring intensive care. METHODS:Retrospective case note review of all 5541 children admitted to the paediatric intensive care unit (PICU) of a university hospital during the 10 years from January ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.5.352
更新日期:2002-05-01 00:00:00
abstract::A retrospective analysis was made of the incidence and severity of the idiopathic respiratory distress syndrome (RDS) in babies of less than 35 weeks' gestation born at this hospital from January 1967-December 1974. There was a lower incidence of RDS in babies born after pregnancies complicated only by prolonged ruptu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.9.674
更新日期:1976-09-01 00:00:00
abstract::The use of the Bene-Anthony Family Relations Test is described and illustrated by three examples of child abuse. This test should be considered in the investigation of definite or suspected cases of abuse and as part of the preparation of court evidence. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.9.708
更新日期:1977-09-01 00:00:00
abstract::A survey is reported of infant feeding practice at the time of discharge from a single maternity ward. It is shown that a change in the attitude of nursing staff increased the number of mothers breast feeding their infants and eliminated the practice of giving the infants formula feed complements. This change in attit...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.50.3.165
更新日期:1975-03-01 00:00:00
abstract::Interleukin-2 (IL-2) and T cell subpopulations were evaluated in children with rheumatic heart disease (RHD). Three groups were included: 13 patients with active RHD, 12 with non-active RHD, and 14 control children. Serum IL-2 and T cell subpopulations were measured by radioimmunoassay and monoclonal antibodies respec...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.11.1373
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:To determine current use of vitamin K (VK) prophylaxis in newborns and review the efficacy and effectiveness of regimens used. DESIGN:Efficacy and effectiveness calculated using current practice details, data from Southern Ireland and two previous surveys, together with contemporaneous studies of vitamin K d...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2006.105304
更新日期:2007-09-01 00:00:00
abstract:AIM:To determine the impact of displacement values on doses in paediatric patients when using parenteral. To assess the option of using average displacement values (DV) in the preparation of parenteral medicines. METHOD:Over 500 Medusa1 monographs were analysed and 42 medicines were identified with a displacement valu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2016-311535.30
更新日期:2016-09-01 00:00:00
abstract::Imaging has many uses, but in cases of suspected child abuse, radiographs and CT scans are vital in identifying fractures and head injury that may not be clinically obvious. There are growing concerns about the small but potential adverse effects of radiation, including cancer, in the paediatric population as a result...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2015-308418
更新日期:2015-12-01 00:00:00
abstract::Clostridium difficile cytopathic toxin was found in the faeces or gut content of five of 39 neonates with necrotising enterocolitis (NEC). Toxin concentrations were uniformly low and did not differ from those found in healthy neonates. C difficile is unlikely to be involved in the pathogenesis of NEC. Stools from 33 b...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.3.270
更新日期:1984-03-01 00:00:00
abstract::Obesity is becoming a common clinical headache for child health professionals, as the increase in professional and media concern has not been matched by effective clinical solutions. Added to this is considerable confusion about both the definitions of obesity and about which groups of children and adolescents actuall...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2004.062224
更新日期:2005-04-01 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::Pethidine or an epidural injection of bupivacaine are common forms of obstetric analgesia in Britain. Bupivacaine has been thought to have little effect on the fetus, but neurobehavioural studies have cast doubt on this. We therefore investigated the elimination of these drugs by babies in similar population groups. B...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.8.638
更新日期:1977-08-01 00:00:00