Abstract:
:Three clinically normal sibs were discovered to have type II hyperprolinaemia in a routine serum amino acid screening programme in Sicily. In addition to the basic biochemical features of type II hyperprolinaemia, all 3 children had marked hyperglycinaemia, whereas their parents had both normal blood proline and glycine concentrations. Clinical normality in individuals with hyperprolinaemia may suggest that these two metabolic disorders (types I and II) are benign entities. Furthermore, the absence of clinical abnormality in these sibs, despite the presence of marked hyperprolinaemia and hyperglycinaemia, may suggest that neither of these findings alone causes brain damage. The hyperglycinaemia in these sibs is unexplained and is an unusual if not unique finding in association with hyperprolinaemia.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Pavone L,Mollica F,Levy HLdoi
10.1136/adc.50.8.637subject
Has Abstractpub_date
1975-08-01 00:00:00pages
637-41issue
8eissn
0003-9888issn
1468-2044journal_volume
50pub_type
杂志文章abstract::Therapeutic drug monitoring (TDM) aims to integrate drug measurement results into clinical decision making. The basic rules apply when using TDM in neonates (aminoglycosides, vancomycin, phenobarbital, digoxin), but additional factors should also be taken into account. First, due to both pharmacokinetic variability an...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2013-305309
更新日期:2016-04-01 00:00:00
abstract::Mild hypnotics are often recommended for young children with sleep problems. This study assesses the efficacy of trimeprazine tartrate in 1 to 3 year old children with persistent and severe night waking in a double blind crossover trial with placebo. Children on treatment with trimeprazine had significantly fewer waki...
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.62.3.253
更新日期:1987-03-01 00:00:00
abstract::A girl was born to a mother who had undergone treatment for epilepsy with carbamazepine during pregnancy. The infant had dysmorphic features and was physically and mentally retarded. We consider that the malformations were the result of the maternal treatment with carbamazepine. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.5.641
更新日期:1991-05-01 00:00:00
abstract:AIM:To compare the growth patterns of breast fed and formula fed Italian infants in the first 12 months of life using World Health Organisation (WHO) reference data. METHODS:The growth patterns of 73 breast fed infants (36 male, 37 female) and 65 formula fed infants (35 male, 30 female) were compared. Solid foods were...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.5.395
更新日期:1999-11-01 00:00:00
abstract::Nocturnal growth hormone secretion over a 12 hour period was assessed at 20 minute intervals in 25 prepubertal subjects with Turner's syndrome and 11 normal prepubertal girls of short stature to try and elucidate the relationship between body weight and endogenous secretion of growth hormone in Turner's syndrome. Ther...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.10.1184
更新日期:1991-10-01 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:AIMS:To evaluate a systematic approach to the development and implementation of evidence based asthma management guidelines. METHODS:Comparative study of children (2-18 years) with acute asthma; a control cohort (cohort 1) was recruited before implementation of the guidelines and two cohorts were recruited after imple...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.032110
更新日期:2004-07-01 00:00:00
abstract::Urinary lithogenic and inhibitory factors were studied in 27 preterm infants; 16 had total parenteral nutrition (TPN) and 11 had breastmilk with an additional glucose-sodium chloride infusion. Urines were collected for 24 hours on day 2 (period A), day 3 (B), and once between days 4 and 10 (C). Urinary calcium oxalate...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.3_spec_no.299
更新日期:1993-09-01 00:00:00
abstract::Fine needle aspiration biopsy (FNAB) offers a simple outpatient technique for specimen collection in child tuberculosis suspects with peripheral lymphadenopathy. To perform FNAB with mycobacterial culture on an outpatient basis requires use of a sterile transport medium to facilitate bedside inoculation, maintain orga...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.164038
更新日期:2010-01-01 00:00:00
abstract::Many children who present with these acquired impairments of communication have a clear preceding event such as an acquired brain injury from a road traffic accident. Children often respond differently in this situation to adult presentations. They may have a period of mutism when the prognosis might look poor and yet...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2014-306153
更新日期:2016-03-01 00:00:00
abstract::Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels rose to 570 mumol/u (...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.3.230
更新日期:1978-03-01 00:00:00
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
更新日期:2019-07-01 00:00:00
abstract::Levels of calcium, magnesium, and glucose were measured in the blood and cerebrospinal fluid (CSF) of children with febrile convulsions. Calcium and magnesium levels were within the normal range and the blood: CSF ratios were similar to those of normal subjects. Hyperglycaemia was a frequent finding and was reflected ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.2.141
更新日期:1976-02-01 00:00:00
abstract::An intravenous urogram and micturating cystourethrogram were carried out in 100 infants presenting with documented urinary tract infections. Ninety three cases were identified by suprapubic aspiration and 7 by culture of two voided urine samples containing greater than 100 X 10(6) organisms per litre. The urinary trac...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.7.620
更新日期:1984-07-01 00:00:00
abstract::Acute viral respiratory illness during infancy has been implicated as a precursor for subsequent lower respiratory morbidity in childhood. A prospective, longitudinal study of respiratory function, airway responsiveness, and lower respiratory illness during early childhood was performed in a cohort of 253 healthy infa...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.72.1.16
更新日期:1995-01-01 00:00:00
abstract::Fever is a common symptom of childhood illness, and much time and effort is spent in the pursuit of reducing high temperature. Although antipyretic drugs are the main form of treatment, this report considers the part that physical treatments might play in reducing the temperature of febrile children. Such treatments i...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.82.3.238
更新日期:2000-03-01 00:00:00
abstract::Production of platelet thromboxane B2, a stable metabolite of thromboxane A2, was measured in seven newborn infants with pulmonary hypertension during the first day of life. Platelet thromboxane B2 production was significantly lower than in 12 healthy controls but did not correlate with simultaneous blood gas values. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.2.195
更新日期:1987-02-01 00:00:00
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
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:Several studies have shown an increased incidence of neurodevelopmental impairment in very preterm survivors at school age compared with controls. AIM:To compare findings in the same cohort at 8 years and 15 years. METHODS:A total of 151 of the 224 eligible infants born before 33 weeks of gestation from 19...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2002.006676
更新日期:2004-03-01 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:AIMS:To determine the prevalence of sleep-disordered breathing (SDB) in a clinical sample of overweight and obese children and adolescents, and to examine the contribution of fat distribution. METHODS:Consecutive subjects without chronic lung disease, neuromuscular disease, laryngomalacia, or any genetic or craniofaci...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2006.101089
更新日期:2007-03-01 00:00:00
abstract::The association between current micturition habits and previous urinary tract infection was analysed among 3553 school entrants aged 7 years by means of a questionnaire. A high incidence of urinary infection, confirmed by urine culture, was found (145 (8.4%) in the 1719 girls and 32 (1.7%) in the 1834 boys). There was...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.2.232
更新日期:1991-02-01 00:00:00
abstract:AIMS:To evaluate the clinical efficacy of sublingual immunotherapy (SLIT) in respiratory allergy in children. METHODS:A systematic literature review was conducted. The search was focused on all the double blind (and double dummy if necessary) studies. SEARCH STRATEGY:Medline, Embase, Cochrane Controlled Trial Registe...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2003.030411
更新日期:2004-07-01 00:00:00
abstract:AIMS:(1) To determine the pattern of respiratory impairment in children with thalassaemia major (TM); (2) to assess the relation between the degree of respiratory impairment and total body iron content. METHODS:Twenty nine TM patients were recruited. All underwent physical examination, standardised pulmonary function ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.87.4.328
更新日期:2002-10-01 00:00:00
abstract::The efficacy of an absorbable antimicrobial agent trimethoprim-sulphamethoxazole (TMP-SMX) in the management of children with persistent diarrhoea was evaluated in a double blind, randomised, and placebo controlled trial. Of the 55 patients studied, 28 received TMP-SMX, and 27 received placebo. A trend in stool weight...
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.72.6.483
更新日期:1995-06-01 00:00:00
abstract:BACKGROUND AND AIMS:Data on acute paediatric anaphylaxis presentations to the emergency department (ED) are limited. All allergic presentations to one Australian paediatric ED were studied to determine epidemiological, clinical, and outcome data. METHODS:Retrospective, case based study of patients under 16 years atten...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.069914
更新日期:2006-02-01 00:00:00
abstract::Two siblings were born with congenital heart block, and one suffered from severe hydrops fetalis, although maintaining a higher heart rate than the other. The association of hydrops fetalis with disorders of cardiac rhythm is unlikely to be simply a manifestation of congestive cardiac failure in the fetus. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.55.6.479
更新日期:1980-06-01 00:00:00
abstract::Rapid urbanisation in the 20th century has been accompanied by the development of slums. Nearly one-third of the world's population and more than 60% of urban populations in the least developed countries live in slums, including hundreds of millions of children. Slums are areas of broad social and health disadvantage ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-301621
更新日期:2013-10-01 00:00:00
abstract::Serial exercise tests were carried out by 12 children with asthma on two study days. After a control exercise test either nedocromil sodium 4 mg or placebo were given double blind by metered dose inhaler. Highly significant inhibition of exercise induced asthma occurred after nedocromil, lasting for over two hours. ...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.62.4.412
更新日期:1987-04-01 00:00:00
abstract::Indwelling femoral venous catheters were prospectively studied by ultrasonography to define the frequency and evolution of inferior vena cava (IVC) thrombosis. IVC thrombosis was identified in six of 56 catheters (54 children). Only one patient with a positive ultrasound scan had clinical signs of thrombosis. All chil...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.72.4.343
更新日期:1995-04-01 00:00:00