Hypoparathyroidism and 22q11 deletion syndrome.

Abstract:

AIMS:To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS:A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS:Sixty one individuals were identified, of whom 23 were untraceable and one was unable to give informed consent. Biochemical investigations were performed on 27 subjects. Ten subjects had review of notes only. Four subjects had previously identified hypoparathyroidism. A new case of hypoparathyroidism was identified. Three subjects had borderline hypocalcaemia. DISCUSSION:In this population of patients with 22q11 deletion syndrome, 13% of the total or 30% of those biochemically assessed had evidence of reduced serum calcium concentrations. It is likely that 13-30% of patients with 22q11 deletion syndrome have possible hypoparathyroidism outside the neonatal period. Reported symptoms of hypocalcaemia did not correlate with biochemical evidence of persisting hypocalcaemia. We have shown that previously undiagnosed asymptomatic hypoparathyroidism occurs in patients with 22q11 deletion syndrome and conclude that screening of this population should be considered.

journal_name

Arch Dis Child

authors

Taylor SC,Morris G,Wilson D,Davies SJ,Gregory JW

doi

10.1136/adc.88.6.520

subject

Has Abstract

pub_date

2003-06-01 00:00:00

pages

520-2

issue

6

eissn

0003-9888

issn

1468-2044

journal_volume

88

pub_type

杂志文章
  • Size at birth and plasma insulin-like growth factor-1 concentrations.

    abstract:OBJECTIVE:To test the hypothesis that reduced fetal growth leads to altered plasma insulin-like growth factor-1 (IGF-1) concentrations in childhood. DESIGN:A follow up study of 4 year old children whose birth weights were recorded, and of 7 year old children whose weight, length, head circumference, and placental weig...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.73.4.287

    authors: Fall CH,Pandit AN,Law CM,Yajnik CS,Clark PM,Breier B,Osmond C,Shiell AW,Gluckman PD,Barker DJ

    更新日期:1995-10-01 00:00:00

  • Rice: a common and severe cause of food protein-induced enterocolitis syndrome.

    abstract:OBJECTIVE:To examine and compare the characteristics of food protein-induced enterocolitis syndrome (FPIES) caused by rice and cow's milk/soy. DESIGN:Retrospective study of children presenting with FPIES to the Children's Hospital at Westmead, NSW, Australia, over a 16-year period. RESULTS:There were 14 children with...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.2008.145144

    authors: Mehr SS,Kakakios AM,Kemp AS

    更新日期:2009-03-01 00:00:00

  • Short compared with standard duration of antibiotic treatment for urinary tract infection: a systematic review of randomised controlled trials.

    abstract:AIMS:To compare the effectiveness of short course (2-4 days) with standard duration oral antibiotic treatment (7-14 days) for urinary tract infection (UTI). METHODS:Meta-analysis of randomised controlled trials using a random effects model. Ten trials were eligible, involving 652 children with lower tract UTI recruite...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,meta分析,评审

    doi:10.1136/adc.87.2.118

    authors: Michael M,Hodson EM,Craig JC,Martin S,Moyer VA

    更新日期:2002-08-01 00:00:00

  • Auditing hip ultrasound screening of infants at increased risk of developmental dysplasia of the hip.

    abstract:BACKGROUND:Clinical examination, while useful, has been shown to be insufficient as the sole screening method in infants. Ultrasound examination at 8 weeks in high risk infants is an integral part of the screening process in some units. AIMS:To show the efficiency of hip sonography in detection of developmental dyspla...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.2003.033597

    authors: Lowry CA,Donoghue VB,Murphy JF

    更新日期:2005-06-01 00:00:00

  • Accuracy of the concentration of morphine infusions prepared for patients in a neonatal intensive care unit.

    abstract:OBJECTIVE:To investigate the accuracy of morphine infusions prepared for neonates in relation to the label strength and to identify the differences in deviation between infusions made in neonatal intensive care unit (NICU) and those dispensed ready-to-use from pharmacy. METHODS:Unused portions of morphine solution for...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2013-304522

    authors: Aguado-Lorenzo V,Weeks K,Tunstell P,Turnock K,Watts T,Arenas-Lopez S

    更新日期:2013-12-01 00:00:00

  • Nutrition, sex, gestational age, and hair growth in babies.

    abstract::Hair growth measurements are a sensitive indicator of nutrition and we have assessed their value in the perinatal period. The proportion of growing roots and their diameter were studied at birth in 114 babies and repeated 3 weeks later in 29 low birthweight babies. Intrauterine malnutrition resulted in thinner roots b...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.53.4.290

    authors: Berger HM,King J,Doughty S,Wharton BA

    更新日期:1978-04-01 00:00:00

  • Practical issues in relation to clinical trials in children in low-income countries: experience from the front line.

    abstract::Clinical trials in children in resource-poor environments are essential for local health policy and practice to be relevant and evidence based. Research must be ethical, appropriate, relevant and of good quality. It should, where possible, benefit the subjects studied,the clinical, scientific and support staff involve...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2011-301476

    authors: Molyneux E,Mathanga D,Witte D,Molyneux M

    更新日期:2012-09-01 00:00:00

  • Epidemiology of traumatic brain injury in children receiving intensive care in the UK.

    abstract:AIMS:To describe the epidemiology of children with traumatic brain injury (TBI) admitted to paediatric intensive care units (PICUs) in the UK. METHODS:Prospective collection of clinical and demographic information from paediatric and adult intensive care units in the UK and Eire between February 2001 and August 2003. ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,多中心研究

    doi:10.1136/adc.2005.072405

    authors: Parslow RC,Morris KP,Tasker RC,Forsyth RJ,Hawley CA,UK Paediatric Traumatic Brain Injury Study Steering Group.,Paediatric Intensive Care Society Study Group.

    更新日期:2005-11-01 00:00:00

  • Proctosigmoiditis and coeliac disease.

    abstract::Of 80 children with proved coeliac disease, 2 presented with an associated disease of the distal portion of the large intestine. In one child the family history and the extension, localisation, and characteristics of intestinal lesions made us suspect ulcerative colitis; in the other we made a diagnosis of milk-induce...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.53.8.645

    authors: Ansaldi N,Santini B,Dell'olio D,Levis F

    更新日期:1978-08-01 00:00:00

  • Neonatal vitamin K prophylaxis in Great Britain and Ireland: the impact of perceived risk and product licensing on effectiveness.

    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

    authors: Busfield A,McNinch A,Tripp J

    更新日期:2007-09-01 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

  • Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.

    abstract:AIM:To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN:Review of all diagnostic fasts performed over a 2.5 year period. SETTING:The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metab...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.75.2.115

    authors: Morris AA,Thekekara A,Wilks Z,Clayton PT,Leonard JV,Aynsley-Green A

    更新日期:1996-08-01 00:00:00

  • Amino acid and protein requirements in a preterm infant with classic phenylketonuria.

    abstract::A preterm infant with classic phenylketonuria required rather less than 90 mg/kg of phenylalanine and between 270 and 290 mg/kg tyrosine daily to achieve a rate of weight gain of around 20 g/kg per day. Using Lofenalac as the low phenylalanine food, the intake of tyrosine, an essential amino acid for patients with phe...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.60.3.263

    authors: Shortland D,Smith I,Francis DE,Ersser R,Wolff OH

    更新日期:1985-03-01 00:00:00

  • Delphi method to identify expert opinion to support children's cancer referral guidelines.

    abstract:BACKGROUND:The National Institute for Health and Care Excellence (NICE) guidance for referral of children with suspected cancer was first published in 2005 and updated in 2015. The updated version relied on sparse primary care evidence and published without input from key stakeholders, for example, acute general paedia...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2019-317235

    authors: Murray MJ,Ruffle A,Lowis S,Howell L,Shanmugavadivel D,Dommett R,Gamble A,Shenton G,Nicholson J

    更新日期:2020-03-01 00:00:00

  • Improved outcome of acute myeloid leukaemia in Down's syndrome.

    abstract:OBJECTIVE:To review the clinical features, treatment, and outcome of children in the UK with Down's syndrome and acute myeloid leukaemia (AML). DESIGN:A retrospective study of 59 children with Down's syndrome and AML presenting between 1987 and 1995. Data were obtained from hospital case notes, trial records, and by q...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.81.1.32

    authors: Craze JL,Harrison G,Wheatley K,Hann IM,Chessells JM

    更新日期:1999-07-01 00:00:00

  • Persistence of pneumococcal antibodies after primary immunisation with a polysaccharide-protein conjugate vaccine.

    abstract:INTRODUCTION:Despite immunisation, antibiotics and intensive care management, infection with Streptococcus pneumoniae remains a major cause of morbidity and mortality in children. The WHO currently recommends vaccinating infants with either a 3+0 schedule (6 weeks, 3-4 and 4-6 months of age) or 2+1 schedule (2 doses be...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章,随机对照试验

    doi:10.1136/archdischild-2018-316254

    authors: Zimmermann P,Perrett KP,Berbers G,Curtis N

    更新日期:2019-07-01 00:00:00

  • Rapid diagnosis of glucocorticoid suppressible hyperaldosteronism in infants and adolescents.

    abstract::Glucocorticoid suppressible hyperaldosteronism (GSH) is an uncommon form of dominantly inherited hypertension. Presentation with hypertension and complications such as stroke in early life are well recognised. The use of a simple genetic test carried out on blood or placenta facilitates the detection of infants and ch...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.71.1.40

    authors: Jamieson A,Inglis GC,Campbell M,Fraser R,Connell JM

    更新日期:1994-07-01 00:00:00

  • Renal solute load in preterm infants.

    abstract::We performed metabolic balance studies in 77 preterm infants fed on human milk or adapted formulas, to determine the renal solute load and compared it with the potential renal solute load estimated by the composition of the diet or the urine according to Ziegler's, Bergman's, and Shaw's calculations. The renal solute ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.65.4_spec_no.357

    authors: De Curtis M,Senterre J,Rigo J

    更新日期:1990-04-01 00:00:00

  • Pyrexia after diphtheria/tetanus/pertussis and diphtheria/tetanus vaccines.

    abstract::The temperatures of 587 children were taken before and after diphtheria/tetanus/pertussis (DTP) or diphtheria/tetanus (DT) vaccine. Only slight temperature increases were found but these were notably more frequent after plain than adsorbed DTP vaccine preparations and the frequency increased with each successive dose....

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.58.11.921

    authors: Waight PA,Pollock TM,Miller E,Coleman EM

    更新日期:1983-11-01 00:00:00

  • The changing UK paediatric consultant workforce: report from the Royal College of Paediatrics and Child Health.

    abstract:OBJECTIVES:To determine if there had been changes in the size of the UK paediatric workforce and working patterns between 1999 and 2013. DESIGN:Analysis of prospectively collected datasets. SETTING:UK consultant paediatricians. INTERVENTIONS:Data from the Royal College of Paediatrics and Child Health's workforce cen...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2016-312055

    authors: McColgan M,Winch R,Clark SJ,Ewing C,Modi N,Greenough A

    更新日期:2017-02-01 00:00:00

  • Advancing the newborn and stillbirth global agenda: priorities for the next decade.

    abstract::Remarkable advances have been made over the past decade in defining the burden of newborn mortality and morbidity and stillbirths, and in identifying interventions to address the major risk factors and causes of deaths. However, progress in saving newborn lives and preventing stillbirths in countries lags behind that ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/archdischild-2013-305557

    authors: Darmstadt GL,Shiffman J,Lawn JE

    更新日期:2015-02-01 00:00:00

  • Simple method for securing umbilical catheters.

    abstract::A method for securing umbilical catheters is described. It has been used successfully in over 350 babies. It is a simple and rapid method that allows for easy repositioning and, unlike some established techniques, has no potential for damage to the preterm baby's skin. ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.63.7_spec_no.750

    authors: South M,Magnay A

    更新日期:1988-07-01 00:00:00

  • Hospital morbidity pattern in children under 1 year of age born in Sheffield 1975-6.

    abstract::The morbidity pattern, based on hospital admissions for a complete year's cohort of all children born in Sheffield 1975-6, was studied. In many children the diagnosis given on admission had changed by the time they were discharged from hospital. About one-quarter of children under age 6 months were admitted for social...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.56.1.36

    authors: Lloyd B,Pursall E,Emery JL

    更新日期:1981-01-01 00:00:00

  • Anthropometry of patients with osteogenesis imperfecta.

    abstract::Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone-insulin-like growth factor I (IGF-I) axis were determined in 86 patients with osteogenesis imperfecta. The aim of this study was to determine standing height and body proportions and their variability among osteogen...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.80.6.524

    authors: Lund AM,Müller J,Skovby F

    更新日期:1999-06-01 00:00:00

  • Age of appearance of circadian rhythm in salivary cortisol values in infancy.

    abstract::Samples of saliva (4 in 24 hours), collected at monthly intervals for the first 6 months of life in 8 term infants by their mothers, were analysed for cortisol by radioimmunoassay. Values in the first month were more variable, daily mean values were greater, and amplitudes of variation were greater than in subsequent ...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.58.6.454

    authors: Price DA,Close GC,Fielding BA

    更新日期:1983-06-01 00:00:00

  • Neonatal tuberculosis.

    abstract::Tuberculosis rarely presents in the neonatal period. Though treatable, it may be fatal despite modern treatment. The diagnosis of congenital tuberculosis should be considered in any neonate with pneumonia that fails to respond to conventional treatment, particularly in a child from an ethnic or socioeconomic environme...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.61.5.512

    authors: Bate TW,Sinclair RE,Robinson MJ

    更新日期:1986-05-01 00:00:00

  • The 'unified airway': the RCPCH care pathway for children with asthma and/or rhinitis.

    abstract:AIMS:The Royal College of Paediatrics and Child Health (RCPCH) Science and Research Department was commissioned by the Department of Health to develop national care pathways for children with allergies: the asthma/rhinitis care pathway is the third such pathway. Asthma and rhinitis have been considered together. These ...

    journal_title:Archives of disease in childhood

    pub_type: 共识发展会议,杂志文章

    doi:10.1136/adc.2011.213462

    authors: Vance G,Lloyd K,Scadding G,Walker S,Jewkes F,Williams L,Dixon L,O'Beirne C,Fletcher P,Brown T,Hughes J,Sohi D,Piddock C,Shields M,McKean M,Warner J,Science and Research Department, Royal College of Paediatrics and Child H

    更新日期:2011-11-01 00:00:00

  • Catch-up growth in early treated patients with growth hormone deficiency. Dutch Growth Hormone Working Group.

    abstract::Catch-up growth of 26 children with growth hormone deficiency during four years of growth hormone treatment, which was started young (< 3 years), was compared with that of 16 children with coeliac disease on a gluten free diet. In children with growth hormone deficiency mean (SD) height SD score increased from -4.3 (1...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.72.5.427

    authors: Boersma B,Rikken B,Wit JM

    更新日期:1995-05-01 00:00:00

  • Congenital nephrogenic diabetes insipidus in a baby girl.

    abstract::A 6-week-old girl with fever, hypernatraemia, dehydration, and polyuria failed to concentrate urine in response to exogenous vasopressin administration. There was no family history of nephrogenic diabetes insipidus. When she was 15 months old, the infusion of vasopressin did not produce an increase in urinary cyclic-A...

    journal_title:Archives of disease in childhood

    pub_type: 杂志文章

    doi:10.1136/adc.53.11.unknown

    authors: Schreiner RL,Skafish PR,Anand SK,Northway JD

    更新日期:1978-11-01 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