Object's details: The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Provider:Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

Description

Title:
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Creator:
Hoffman-Zacharska, Dorota;
Mierzewska, Hanna;
Szczepanik, Elżbieta;
Poznański, Jarosław;
Mazurczak, Tomasz;
Jakubiuk-Tomaszuk, Anna;
Mądry, Jacek;
Kierdaszuk, Anatol;
Bal, Jerzy
Description:
Uterine and umbilical blood flow measurements are reviewed in terms of studies carried out in uncomplicated human pregnancies. The review includes the perspective of how those estimates of flow fit with current knowledge of human fetal O2 consumption and uterine O2 and glucose consumption. From the consideration of both the O2 data and the flow measurements, we conclude that the best estimates for mean umbilical blood flow at term range between 120 and 145 ml•min-1•(kg fetus)-1. The uterine flow estimate from physiologic data would equate to ~270 ml•min-1•(kg fetus)-1. This estimate, based upon estimates of uterine O2 and glucose consumption, is much higher than some estimates made by imaging techniques. The reasons for this discrepancy are not yet established. However, given the enormous variability in uterine flow measurements made with imaging techniques, it is clear that more research into improvement in these non-invasive approaches is still required and all current estimates of uterine flow must be regarded as rather crude trials.
Object availability:
free access
Date:
2013.12
Type:
Article;
PeerReviewed
Language:
English
Format:
application/pdf
Relation: http://eprints.ibb.waw.pl/636 ;http://medwiekurozwoj.pl
Subject:
RJ Pediatrics;
RJ101 Child Health. Child health services
Identifier: http://eprints.ibb.waw.pl/636/1/2013-4-2.pdf ;
Hoffman-Zacharska, Dorota and Mierzewska, Hanna and Szczepanik, Elżbieta and Poznański, Jarosław and Mazurczak, Tomasz and Jakubiuk-Tomaszuk, Anna and Mądry, Jacek and Kierdaszuk, Anatol and Bal, Jerzy (2013) The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. Medycyna Wieku Rozwojowego / Developmental Period Medicine, 17 (4). pp. 293-300. ISSN 1428-345X
Data provider:
Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

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Object's details: The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Description

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