Family implications of neonatal Gorlin's syndrome.

Abstract:

:Two very preterm infants (born at 29 and 25 weeks, respectively) were found to have abnormal ribs. Though this was thought unimportant at the time, it was subsequently shown to indicate that some members of their families had a dominantly inherited risk of developing skin cancer and other serious problems.

journal_name

Arch Dis Child

authors

Evans DG,Sims DG,Donnai D

doi

10.1136/adc.66.10_spec_no.1162

subject

Has Abstract

pub_date

1991-10-01 00:00:00

pages

1162-3

issue

10 Spec No

eissn

0003-9888

issn

1468-2044

journal_volume

66

pub_type

杂志文章
  • A double blind lipase for lipase comparison of a high lipase and standard pancreatic enzyme preparation in cystic fibrosis.

    abstract::A standard acid resistant microsphere pancreatic enzyme preparation was compared with identical capsules half filled with mini-tablets of a new high lipase preparation in a randomised double blind crossover study in children with cystic fibrosis. Each patient received his/her usual number of capsules and the same dose...

    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.68.2.227

    authors: Bowler IM,Wolfe SP,Owens HM,Sheldon TA,Littlewood JM,Walters MP

    更新日期:1993-02-01 00:00:00

  • Female genital mutilation: what every paediatrician should know.

    abstract::Female genital mutilation (FGM) is almost always performed on children and consequently paediatricians should have a central role in the detection and prevention of FGM. FGM has no health benefits and can cause lifelong damage to physical and psychological health. Extensive migration of FGM practising communities mean...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,评审

    doi:10.1136/archdischild-2014-307234

    authors: Creighton SM,Hodes D

    更新日期:2016-03-01 00:00:00

  • Mothers' reports of infant crying and soothing in a multicultural population.

    abstract:OBJECTIVES:To investigate the prevalence of infant crying and maternal soothing techniques in relation to ethnic origin and other sociodemographic variables. DESIGN:A questionnaire survey among mothers of 2-3 month old infants registered at six child health clinics in Amsterdam, the Netherlands. SUBJECTS:A questionna...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.79.4.312

    authors: van der Wal MF,van den Boom DC,Pauw-Plomp H,de Jonge GA

    更新日期:1998-10-01 00:00:00

  • Antibiotic use in children and the use of medicines by parents.

    abstract:OBJECTIVE:Antibiotic drugs are frequently used for viral infections in children. It is probable that health beliefs and parental concern have great influence on the use of drugs in children. This study, performed in The Netherlands, investigates whether the use of antibiotics in children is associated with the use of m...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2011-301150

    authors: de Jong J,Bos JH,de Vries TW,de Jong-van den Berg LT

    更新日期:2012-06-01 00:00:00

  • Genomics for paediatricians: promises and pitfalls.

    abstract::In recent years, there have been significant advances in genetic technologies, evolving the field of genomics from genetics. This has huge diagnostic potential, as genomic testing increasingly becomes part of mainstream medicine. However, there are numerous potential pitfalls in the interpretation of genomic data. It ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,评审

    doi:10.1136/archdischild-2017-314558

    authors: Hammond CL,Willoughby JM,Parker MJ

    更新日期:2018-09-01 00:00:00

  • Delayed adolescent growth in homozygous sickle cell disease.

    abstract::Analysis of the growth abnormalities in sickle cell disease has been limited by the lack of longitudinal observations in individuals, and by an inability to quantitate the observed patterns. To investigate the timing and pattern of the adolescent growth spurt, longitudinal observations of height from the Jamaican coho...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.71.5.404

    authors: Singhal A,Thomas P,Cook R,Wierenga K,Serjeant G

    更新日期:1994-11-01 00:00:00

  • Review of treatment of bronchiolitis related apnoea in two centres.

    abstract:AIMS:To determine whether the use of negative pressure ventilation (NPV) was associated with a lower rate of endotracheal intubation in infants with recurrent apnoea secondary to acute bronchiolitis. METHODS:Retrospective review of two paediatric intensive care units (PICU) databases and case notes; one PICU offered N...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,多中心研究

    doi:10.1136/adc.2003.039404

    authors: Al-balkhi A,Klonin H,Marinaki K,Southall DP,Thomas DA,Jones P,Samuels MP

    更新日期:2005-03-01 00:00:00

  • Asthma, wheezing, and school absence in primary schools.

    abstract::The prevalence of wheezing, 'asthma', treatment for 'asthma', and school absence as a result of wheezing in Nottingham was calculated from a questionnaire survey of parents of 4750 children in a random sample of primary schools. A response was achieved for 3805 (80%) children of whom 438 (11.5%) had had episodes of wh...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.64.2.246

    authors: Hill RA,Standen PJ,Tattersfield AE

    更新日期:1989-02-01 00:00:00

  • Clinical significance of cough and wheeze in the diagnosis of asthma.

    abstract:OBJECTIVES:(1) To determine the prevalence of cough, wheeze, and breathlessness, both as single symptoms and in combination, in primary schoolchildren and their relation to doctor diagnosed asthma. (2) To identify in areas with different levels of dust pollution whether questionnaire reported 'cough alone' (without whe...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.75.6.489

    authors: Kelly YJ,Brabin BJ,Milligan PJ,Reid JA,Heaf D,Pearson MG

    更新日期:1996-12-01 00:00:00

  • Diagnostic accuracy of pH monitoring in gastro-oesophageal reflux.

    abstract::One hundred and eleven children admitted with suspected gastro-oesophageal reflux were studied, with 24 hour oesophageal pH monitoring as the first line of investigation. Barium swallow examination, or oesophagoscopy, or both, were carried out only in children with abnormal pH, who subsequently had a trial of 1-12 mon...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.64.10.1421

    authors: Da Dalt L,Mazzoleni S,Montini G,Donzelli F,Zacchello F

    更新日期:1989-10-01 00:00:00

  • Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

    abstract:AIM:Assessment of the efficacy of vitamin D replenishment and maintenance doses required to attain optimal levels in boys with Duchenne muscular dystrophy (DMD). METHOD:25(OH)-vitamin D levels and concurrent vitamin D dosage were collected from retrospective case-note review of boys with DMD at the Dubowitz Neuromuscu...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2015-308825

    authors: Alshaikh N,Brunklaus A,Davis T,Robb SA,Quinlivan R,Munot P,Sarkozy A,Muntoni F,Manzur AY,Dubowitz Neuromuscular Team.

    更新日期:2016-10-01 00:00:00

  • Pathogenesis of liver damage during parenteral nutrition: is lipofuscin a clue?

    abstract::Lipofuscin develops in cells when peroxidation damage occurs. Its development in the liver of patients receiving prolonged parenteral nutrition suggests that peroxidation damage by free radicals has occurred. Deficiencies in antioxidants such as vitamin E may be an important contributing factor. ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.60.8.774

    authors: Berger HM,Den Ouden AL,Calame JJ

    更新日期:1985-08-01 00:00:00

  • Heterogeneity of atypical haemolytic uraemic syndromes.

    abstract::Atypical, non-diarrhoea associated haemolytic uraemic syndrome (D-HUS) is a heterogeneous disorder with a generally poor outcome, although this view has now been questioned. The clinical and laboratory features of 23 children with D-HUS, representing a third of all patients with HUS seen during the last 26 years, were...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,评审

    doi:10.1136/adc.76.6.518

    authors: Neuhaus TJ,Calonder S,Leumann EP

    更新日期:1997-06-01 00:00:00

  • Young people's experiences of managing asthma and diabetes at school.

    abstract:PURPOSE:To examine the experiences and concerns of young people and their parents regarding the management of medication for asthma or diabetes whilst at school. METHODS:Face-to-face semi-structured interviews were conducted with 69 young people aged 8-15 years (43 with asthma and 26 with diabetes) and their parents (...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.2006.110536

    authors: Newbould J,Francis SA,Smith F

    更新日期:2007-12-01 00:00:00

  • Liver cirrhosis in cystic fibrosis--therapeutic implications and long term follow up.

    abstract::Experience gained from liver studies in 450 patients with cystic fibrosis, seen in a 38 year period from 1964 to 1992, is surveyed. Of these, 31 (7%) showed findings that indicated multilobular cirrhosis. There was a slight but not significant male predominance: 19 males against 12 females. Liver disease had its onset...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.68.5.653

    authors: Feigelson J,Anagnostopoulos C,Poquet M,Pecau Y,Munck A,Navarro J

    更新日期:1993-05-01 00:00:00

  • Effect of placebo substitution during long-term betamethasone valerate aerosol treatment in asthmatic children.

    abstract::Ten children with severe asthma, who had been well controlled on maintenance betamethasone valerate aerosol for an average of 11 months, were given placebo aerosols without their knowledge. The period of placebo substitution was campared with one 28-day period of betamethasone valerate therapy beforehand, and two 28-d...

    journal_title:Archives of disease in childhood

    pub_type: 临床试验,杂志文章

    doi:10.1136/adc.50.5.387

    authors: Frears J,Hodgson S,Friedman M

    更新日期:1975-05-01 00:00:00

  • Survival after balloon atrial septostomy for complete transposition of great arteries.

    abstract::Mortality before surgery must be taken into account when comparing the surgical mortality of atrial redirection procedures (Mustard's or Senning's operation) and the arterial switch operation for patients with complete transposition. This is because the switch operation is usually performed within the neonatal period ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.62.6.549

    authors: Mok Q,Darvell F,Mattos S,Smith T,Fayers P,Rigby ML,Shinebourne EA

    更新日期:1987-06-01 00:00:00

  • Effect of cyproterone acetate on adrenocortical function in children with precocious puberty.

    abstract::Seven children with precocious puberty were treated with cyproterone acetate and their adrenal function studied. In each child the drug caused significant adrenal hypofunction which was secondary to adrenocorticotrophic hormone suppression. None of these children had clinical evidence of adrenal hypofunction and it is...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.56.3.218

    authors: Savage DC,Swift PG

    更新日期:1981-03-01 00:00:00

  • Factors influencing breast feeding.

    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

    authors: McKean KS,Baum JD,Sloper K

    更新日期:1975-03-01 00:00:00

  • Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia.

    abstract::Four patients with salt-losing congenital adrenal hyperplasia (CAH) who had stopped mineralocorticoid therapy for several years, showed raised plasma concentrations of 17OH-progesterone and plasma renin activity, despite adequate glucoticoid therapy. One patient was able to reduce urinary sodium excretion when the sod...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.54.5.350

    authors: Hughes IA,Wilton A,Lole CA,Gray OP

    更新日期:1979-05-01 00:00:00

  • High volume milk feeds for preterm infants.

    abstract::Fifty nine preterm infants of between 1.0 and 2.0 kg birthweight who were fed 250 ml/kg/day of breast milk or standard formulas gained weight at the intrauterine rate without complications. It is suggested that high volume feeding is a satisfactory alternative to low birthweight formula milks and is more desirable in ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.59.8.779

    authors: Lewis MA,Smith BA

    更新日期:1984-08-01 00:00:00

  • Pharmacokinetics of paracetamol after cardiac surgery.

    abstract::Plasma concentration was measured after rectal and nasogastric administration of paracetamol 15 mg/kg to 28 febrile children aged between 9 days to 7 years who had undergone cardiac surgery. After equivalent doses, rectal administration in neonates and children on the first postoperative day was found to produce plasm...

    journal_title:Archives of disease in childhood

    pub_type: 临床试验,杂志文章

    doi:10.1136/adc.65.9.971

    authors: Hopkins CS,Underhill S,Booker PD

    更新日期:1990-09-01 00:00:00

  • Retrospective review of Synacthen testing in infants.

    abstract:BACKGROUND:A subnormal cortisol response (30 min level (C30min)<550 nmol/L) to synthetic adrenocorticotrophic hormone/Synacthen test (SDST) in all infants does not necessarily indicate underlying or persistent hypothalamic-pituitary-adrenal axis pathology. METHODS:We retrospectively evaluated the diagnoses and outcome...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2017-313819

    authors: Tan TSE,Manfredonia C,Kumar R,Jones J,O'Shea E,Padidela R,Skae M,Ehtisham S,Ivison F,Tetlow L,Clayton PE,Banerjee I,Patel L

    更新日期:2018-10-01 00:00:00

  • Protein restriction in chronic renal failure.

    abstract::The aim of the study was to investigate the effect of a protein restricted diet on renal function and growth of children with chronic renal failure. In a multicentre prospective study 56 children (aged 2-18 years) with chronic renal failure were randomly assigned to the protein restricted (0.8-1.1 g/kg/day) or the con...

    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.68.3.371

    authors: Kist-van Holthe tot Echten JE,Nauta J,Hop WC,de Jong MC,Reitsma-Bierens WC,Ploos van Amstel SL,van Acker KJ,Noordzij CM,Wolff ED

    更新日期:1993-03-01 00:00:00

  • Phototherapy for neonatal hyperbilirubinaemia: the importance of dose.

    abstract::The management of neonatal jaundice can be made much easier using simple methods that increase the radiant energy in the range 420 to 480 nm. Two groups of infants being treated for physiological jaundice during a period of 6 months were compared. The first group received treatment from two unmodified phototherapy uni...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.58.6.406

    authors: Modi N,Keay AJ

    更新日期:1983-06-01 00:00:00

  • Coeliac disease associated with congenital heart disease.

    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:

    authors: Congdon PJ,Fiddler GI,Littlewood JM,Scott O

    更新日期:1982-01-01 00:00:00

  • Heights and weights of West Indian children with the sickle cell trait.

    abstract::No consistent differences were found in mean heights and weights of 170 schoolchildren aged 6--12 years with the sickle cell trait and 1247 schoolchildren with normal haemoglobin living in Dominica and Jamaica. ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.53.7.596

    authors: Ashcroft MT,Desai P,Grell GA,Serjeant BE,Serjeant GR

    更新日期:1978-07-01 00:00:00

  • Beclomethasone dipropionate aerosol in treatment of hay fever in children.

    abstract::Eighteen children suffering from hay fever were treated with intra-nasal beclomethasone dipropionate (400 mug/day) and an identical placebo aerosol in a double-blind cross-over trial. 17 of the children preferred the intranasal beclomethasone dipropionate, one had no preference, none preferred the placebo. The effect ...

    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.50.11.875

    authors: Prahl P,Wilken-Jensen K,Mygind N

    更新日期:1975-11-01 00:00:00

  • Cytomegalovirus retinitis in AIDS.

    abstract::Cytomegalovirus retinitis is common in adults with AIDS but has been reported infrequently in children with perinatally acquired HIV infection. The cases are presented of two infants with vertically acquired HIV infection who developed disseminated cytomegalovirus infection and retinitis, and who posed difficult manag...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.72.1.54

    authors: Peters MJ,Moeller HU,Russell-Eggitt I,Novelli V

    更新日期:1995-01-01 00:00:00

  • Failure of IGF-I and IGFBP-3 to diagnose growth hormone insufficiency.

    abstract:BACKGROUND:Growth hormone insufficiency (GHI) is diagnosed conventionally by short stature and slow growth, and is confirmed by diminished peak GH response to a provocation test. Insulin-like growth factor I (IGF-I) and IGF binding protein 3 (IGFBP-3) have previously been considered individually OBJECTIVE:To test the ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.80.5.443

    authors: Mitchell H,Dattani MT,Nanduri V,Hindmarsh PC,Preece MA,Brook CG

    更新日期:1999-05-01 00:00:00