GLORIA

GEOMAR Library Ocean Research Information Access

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Late Quaternary  (1)
  • Liver disease, Genetic screening / counselling, Epidemiology, Metabolic disorders  (1)
Document type
Keywords
Publisher
Language
Years
  • 1
    Publication Date: 2017-03-23
    Description: Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction with coagulation abnormalities (prolonged prothrombin time and/or high international normalised ratio). Early treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of severe liver disease and neurological crises. Methods and results Six newborns referred for hypersuccinylacetonaemia but who had normal coagulation testing on initial evaluation had sequence variants in the GSTZ1 gene, encoding maleylacetoacetate isomerase (MAAI), the enzyme preceding FAH in tyrosine degradation. Initial plasma SA levels ranged from 233 to 1282 nmol/L, greater than normal (〈24 nmol/L) but less than the initial values of patients with HT1 (16 944–74 377 nmol/L, n=15). Four individuals were homozygous for c.449C〉T (p.Ala150Val). One was compound heterozygous for c.259C〉T (p.Arg87Ter) and an intronic sequence variant. In one, a single heterozygous GSTZ1 sequence variant was identified, c.295G〉A (p.Val99Met). Bacterial expression of p.Ala150Val and p.Val99Met revealed low MAAI activity. The six individuals with mild hypersuccinylacetonaemia (MHSA) were not treated with diet or nitisinone. Their clinical course has been normal for up to 13 years. Conclusions MHSA can be caused by sequence variants in GSTZ1 . Such individuals have thus far remained asymptomatic despite receiving no specific treatment.
    Keywords: Liver disease, Genetic screening / counselling, Epidemiology, Metabolic disorders
    Print ISSN: 0022-2593
    Electronic ISSN: 1468-6244
    Topics: Medicine
    Published by BMJ Publishing Group
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 2
    Publication Date: 2023-07-19
    Description: Limited constraints on the variability of the deep‐water production in the Labrador Sea complicate reconstructions of the strength of the Atlantic Meridional Overturning Circulation (AMOC) during the Late Quaternary. Large volumes of detrital carbonates were repeatedly deposited in the Labrador Sea during the last 32 kyr, potentially affecting radiogenic Nd isotope signatures. To investigate this the Nd isotope compositions of deep and intermediate waters were extracted from the authigenic Fe‐Mn oxyhydroxide fraction, foraminiferal coatings, the residual silicates and leachates of dolostone grains. We provide a first order estimation of Nd release via dissolution of detrital carbonates and its contribution to the authigenic ԑNd signatures in the Labrador Sea. During the Last Glacial Maximum the Nd isotope signatures in the Labrador Sea would allow active water mass mixing with more radiogenic ɛNd values (−12.6 and −14) prevailing in its eastern part whereas less radiogenic values (ɛNd ∼ −18.4) were found on the western Labrador slope. The deposition of detrital carbonates during Heinrich stadials (2,1) was accompanied by negative detrital and authigenic Nd isotope excursions (ɛNd ∼ −31) that were likely controlled by dissolution of dolostone or dolostone associated mineral inclusions. This highly unradiogenic signal dominated the authigenic phases and individual water masses in the Labrador Sea, serving as potential source of highly unradiogenic Nd to the North Atlantic region, while exported southward. The Holocene authigenic ɛNd signatures of the coatings and leachates significantly differed from those of the detrital silicates, approaching modern bottom water mass signatures during the Late Holocene.
    Description: Plain Language Summary: The Labrador Sea is an important region for deep water formation and for the ocean circulation in the Atlantic region. Over the last 32 thousand years, numerous discharges from melting glaciers added freshwater to the Labrador Sea which could help understand the future effects of current melting glaciers. This information is necessary to better constrain climate predictions in order to gauge the effects on the Global Ocean Water Circulation. However, past deep water production in the Labrador is still poorly constrained, complicating reconstruction of the Atlantic Meridional Overturning Circulation on different timescales. In this study we investigated changes in deep and intermediate water mass circulation patterns over the last 32 kyr based on the radiogenic Nd isotope compositions that serve as a water mass circulation proxy. Analysis of four marine sediment cores show that the deposition of large volumes of detrital carbonates during studied period had a large effect on the recorded in the sediment column signals. New data suggest active water mass circulation during the maximum extent of glacial ice sheets. The modern day ocean circulation patterns have emerged during the Late Holocene (6 ka).
    Description: Key Points: Estimation of Nd release via dissolution of detrital carbonates and its contribution to the authigenic ԑNd signatures in the Labrador Sea. Dissolution of detrital dolostones in the water column during Heinrich stadials at least partially controlled ɛNd signatures. During the LGM generally more radiogenic signatures possibly indicate active water mass advection and mixing in the Labrador Sea.
    Description: GEOMAR Helmholtz‐Zentrum für Ozeanforschung Kiel http://dx.doi.org/10.13039/501100003153
    Description: Kiel University
    Description: https://doi.org/10.1594/PANGAEA.952659
    Keywords: ddc:551.9 ; Labrador Sea ; Late Quaternary ; Paleoceanography ; neodymium isotopes ; dolostone ; AMOC ; carbonate dissolution ; Heinrich stadials
    Language: English
    Type: doc-type:article
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...