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1. |
Clinical implications of unstable DNA repeat sequences |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 265-271
K Lindblad,
M Schalling,
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摘要:
In this article we review the clinical and genetic features characteristic of a number of diseases recently explained by a novel genetic mechanism: unstable segments of the genome containing trinucleotide repeat sequences. Disorders identified to date are mostly progressive, and display unusual inheritance patterns such as anticipation. Anticipation is manifested as an earlier age at onset or a more severe phenotype in later generations of a family, and can be correlated to an increased repeat expansion size. Thus in later generations the disease onset can take place in childhood whereas affected individuals in earlier generations had only adult symptoms. Paediatric cases of typically adult disorders have been shown to be caused by exceptionally long repeat sequences. Anticipation has been observed in a number of disorders not yet identified at the molecular level. Such disorders could be caused by repeat expansions, and are presently subject to intense research efforts. If repeat sequence expansions are related to these disorders, the longest expansions should be seen in the childhood cases, making these the optimal cases to study. Various DNA‐based methods have been developed for the detection of these mutations, making possible preclinical and prenatal diagnostics as well as detection of novel expansion
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14011.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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2. |
Book review |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 272-272
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摘要:
Book reviewed in this article:Yu VYH, editor.Pulmonary Problems in the Perinatal Period and their Sequelae.
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14012.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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3. |
The impact of phototherapy in the management of neonatal hyperbilirubinemia: comparison of historical cohorts |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 273-276
T Valaes,
C Koliopoulos,
A Koltsidopoulos,
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摘要:
To quantitatively assess the impact of phototherapy (PT) in the prevention of kernicterus we calculated the rate of exchange transfusion (ET) in two large historical cohorts of Greek neonates (birthweight ≥2.5 kg), one before (period I: 1957–61) and one after (period II: 1980–92) the introduction of PT. Overall, the introduction of PT was associated with a reduction of the rate of ET from 0.43% in period I to 0.05% in period II. The reduction was observed in all etiological categories but was more marked in the ABO‐incompatible group. With an estimated rate of kernicterus without treatment of 0.085% (excluding rhesus hemolytic disease of the newborn and prematurity) we estimated that 4.2 and 0.36 infants were treated by ET for each spared kernicterus in periods I and II, respectively. Finally, in period II 185 infants were treated with PT or PT and ET for each spared kern
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14013.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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4. |
Phototherapy for neonatal jaundice* |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 277-279
KL Tan,
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摘要:
Exchange transfusion for severe neonatal jaundice is a tedious and expensive procedure with high morbidity and mortality rates, and is followed by a prompt and marked bilirubin rebound. It has largely been replaced by phototherapy, which though more gradual in its effect results in a prolonged reduction of the bilirubin concentration. Its efficacy is influenced by the gestational age, birthweight and postnatal age of the infant, the aetiology of the jaundice, and the spectral emission and intensity (dose) of the light; its dose‐response relationship enables it, at the optimal dose, to control very severe jaundice or a rapidly rising bilirubin concentration, including severe haemolysis. Its relative freedom from complications together with its non‐invasive nature, ease of usage and convenience has resulted in widespread acceptance in virtually all neonatal un
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14014.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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5. |
Prevention of HIV infection |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 280-280
A Etzioni,
S Pollack,
Z. Ben‐Ishai,
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ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14015.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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6. |
A potential danger of bedclothes covering the face |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 281-284
AJ Campbell,
DPG Bolton,
SM Williams,
BJ Taylor,
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摘要:
Investigations of infants dying unexpectedly have reported up to 28% being found completely under bedding. No detailed physiological studies looking at the possibilities of asphyxia in this situation are available. The aim was to determine the potential for asphyxia under different types and thicknesses of bedding. A mechanical model of a 3‐month‐old infant's respiratory system was used. Bedding was positioned over the head in a supine position, and inspired carbon dioxide recorded. With a fixed respiratory rate and tidal volume, carbon dioxide accumulation increased with increasing layers of blankets. Up to 8.3% inspired carbon dioxide was recorded with more than four layers of blankets. A cotton sheet between the face and blankets reduced the accumulation by half. An infant found dead under bedding may have been exposed to an asphyxial stress. Suffocation from rebreathing trapped, expired gases can be a cause of death in this situat
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14016.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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7. |
Accidents in childhood: relation to psychosocial conditions and mental development |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 285-291
J‐O Larsson,
G Aurelius,
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摘要:
In a longitudinal cohort study we investigated if children experiencing psychosocial stress and exhibiting certain psychopathological symptoms run a higher risk of having accidents than other children. In 366 children the number of hospital‐treated casualties during the first 10 years of their lives was related to the physical and mental characteristics of the children and to the social conditions in their families. Boys had a higher number of accidents when one or both of the parents were known to have alcohol problems. Girls exhibiting symptoms of depression, anxiety and problems in social relationships at 4–5 years of age had more accidents than girls without such symptoms. However, the differences in accident rates were small, perhaps due to the physical environment in the housing areas and the general attitude, both aiming towards reducing childhood accide
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14017.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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8. |
Serum lipids and apolipoproteins in Spanish children and adolescents: a 5 year follow‐up |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 292-294
M Sanchez‐Bayle,
A Gonzalez‐Requejo,
C Ruiz‐Jarabo,
J Asensio,
J Baeza,
S Vila,
P Arnaiz,
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摘要:
This study was designed to assess “tracking” of serum lipids and apolipoproteins in three age groups of Spanish children over a 5 year period. A total of 84 6‐year‐old, 89 10‐year‐old and 64 14‐year‐old children were evaluated in 1989 (with measurement of serum total cholesterol, triglycerides, lipoproteins and apolipoproteins A1 and B), and re‐evaluated in 1994. Correlation coefficients between initial and final lipid and apolipoprotein values were as follows: total cholesterol, 0.66; low‐density lipoprotein (LDL) cholesterol, 0.65; high‐density lipoprotein (HDL) cholesterol, 0.61; triglycerides, 0.61; apolipoprotein A1, 0.60; apolipoprotein B, 0.66. When age groups were analysed separately, children who were 14 years old at the beginning of the study showed higher correlation coefficients, particularly for total cholesterol and LDL cholesterol (>0.7 in both cases). More than 70%, of children who were in the top quintile of total, LDL or HDL cholesterol as well as apolipoprotein A1 or B in 1989 remained in the top q
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14018.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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9. |
Congenital chloride diarrhoea: a prenatal differential diagnosis of small bowel atresia |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 295-298
K Lundkvist,
U Ewald,
PG Lindgren,
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摘要:
We compared ultrasound findings and pre‐ and postnatal clinical signs in 8 patients with congenital chloride diarrhoea and 14 with small bowel atresia diagnosed in 1977–1991 in order to evaluate the possibility of a prenatal distinguishing diagnostic sign. In the patients with congenital chloride diarrhoea the pregnancy was complicated by marked polyhydramnios, the symphysis‐fundus distance exceeded +2 SD before gestational week 31 and the fetus displayed normal peristalsis in extensively dilated intestines and the “frog position”. In the patients with small bowel atresia the symphysis‐fundus distance was normal before gestational week 31 and the fetus displayed increased peristalsis in a few dilated intes
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14019.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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10. |
Parvovirus B19 infection and Diamond‐Blackfan anaemia |
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Acta Pædiatrica,
Volume 85,
Issue 3,
1996,
Page 299-302
ED Heegaard,
H Hale,
N Clausen,
A Hornsleth,
GB Kerndrup,
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摘要:
It is the purpose of the study to report the frequency of parvovirus in children with a diagnosis of Diamond‐Blackfan anaemia and to discuss the possible aetiological role of parvovirus in Diamond‐Blackfan anaemia. We found parvovirus DNA in 3 of 11 bone marrow smears. Giant pronormoblasts showed low sensitivity (33%) and poor specificity (75%). The presence of giant pronormoblasts was associated with a very high myeloid: erythroid ratio, and may not be specific for parvovirus infection, but a feature of severely suppressed erythropoiesis. The three parvovirus‐positive patients were the only children who experienced a remission, and who are free of medication. The seven surviving parvovirus‐negative patients are all currently on steroid tr
ISSN:0803-5253
DOI:10.1111/j.1651-2227.1996.tb14020.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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