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- Chien, Yin-Hsiu, et al.
(författare)
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Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
- 2015
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Ingår i: Orphanet Journal of Rare Diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine beta-synthase activity. Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. Some but not all, such individuals have manifested demyelination or other CNS abnormalities. Purpose of the study: The goals of the present effort have been to determine the frequency of such abnormalities, to find how best to predict whether they will occur, and to evaluate the outcomes of the variety of treatment regimens that have been used. Data have been gathered for 64 patients, of whom 32 have some evidence of CNS abnormalities (based mainly on MRI findings), and 32 do not have such evidence. Results and Discussion: The results show that mean plasma methionine concentrations provide the best indication of the group into which a given patient will fall: those with means of 800 mu M or higher usually have evidence of CNS abnormalities, whereas those with lower means usually do not. Data are reported for individual patients for MAT1A genotypes, plasma methionine, total homocysteine (tHcy), and AdoMet concentrations, liver function studies, results of 15 pregnancies, and the outcomes of dietary methionine restriction and/or AdoMet supplementation. Possible pathophysiological mechanisms that might contribute to CNS damage are discussed, and tentative suggestions are put forth as to optimal management.
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| 2. |
- Lerche, Stefanie, et al.
(författare)
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Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles.
- 2017
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Ingår i: Movement disorders : official journal of the Movement Disorder Society. - : Wiley. - 1531-8257. ; 32:12, s. 1780-1783
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Tidskriftsartikel (refereegranskat)abstract
- A proportion of idiopathic Parkinson's disease patients (PDidiopathic ) with dementia show altered CSF profiles of amyloid β (Aβ) and Tau. PD patients with Glucocerebrosidase (GBA) mutations (PDGBA ) present with even more cognitive decline than seen in PDidiopathic .The objective of this study was to evaluate whether CSF profiles of Aβ and tau are associated with the prominent cognitive impairment in PDGBA .CSF levels of Aβ1-42 , t-Tau, p-Tau, and total alpha-synuclein were assessed in 479 participants (50 PDGBA , 308 PDidiopathic , 121 healthy controls).Older age was associated with cognitive impairment in PDGBA and PDidiopathic . Despite prominent cognitive impairment, PDGBA showed similar CSF levels of Aβ1-42 , t-Tau, and p-Tau as seen in healthy controls. In contrast, lower levels of Aβ1-42 and higher levels of t-Tau and p-Tau were associated with worse cognitive performance in PDidiopathic .The prominent cognitive impairment in PDGBA seems not primarily associated with Aβ and Tau profiles in CSF. © 2017 International Parkinson and Movement Disorder Society.
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| 3. |
- Persson Waye, Kerstin, 1959, et al.
(författare)
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Adopting a child perspective for exposome research on mental health and cognitive development - Conceptualisation and opportunities.
- 2023
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Ingår i: Environmental research. - 0013-9351 .- 1096-0953. ; 239:Pt 1
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Tidskriftsartikel (refereegranskat)abstract
- Mental disorders among children and adolescents pose a significant global challenge. The exposome framework covering the totality of internal, social and physical exposures over a lifetime provides opportunities to better understand the causes of and processes related to mental health, and cognitive functioning. The paper presents a conceptual framework on exposome, mental health, and cognitive development in children and adolescents, with potential mediating pathways, providing a possibility for interventions along the life course. The paper underscores the significance of adopting a child perspective to the exposome, acknowledging children's specific vulnerability, including differential exposures, susceptibility of effects and capacity to respond; their susceptibility during development and growth, highlighting neurodevelopmental processes from conception to young adulthood that are highly sensitive to external exposures. Further, critical periods when exposures may have significant effects on a child's development and future health are addressed. The paper stresses that children's behaviour, physiology, activity pattern and place for activities make them differently vulnerable to environmental pollutants, and calls for child-specific assessment methods, currently lacking within today's health frameworks. The importance of understanding the interplay between structure and agency is emphasized, where agency is guided by social structures and practices and vice-versa. An intersectional approach that acknowledges the interplay of social and physical exposures as well as a global and rural perspective on exposome is further pointed out. To advance the exposome field, interdisciplinary efforts that involve multiple scientific disciplines are crucial. By adopting a child perspective and incorporating an exposome approach, we can gain a comprehensive understanding of how exposures impact children's mental health and cognitive development leading to better outcomes.
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| 5. |
- Schielzeth, Holger, et al.
(författare)
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Wader, gull and tern population estimates for a key breeding and stopover site in Central Kazakhstan
- 2010
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Ingår i: Bird conservation international. - 0959-2709 .- 1474-0001. ; 20:2, s. 186-199
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Tidskriftsartikel (refereegranskat)abstract
- Population size estimates of waders, gulls and terns passing through or breeding in Central Asia are very scarce, although highly important for global flyway population estimates as well as for targeting local conservation efforts. The Tengiz-Korgalzhyn region is one of the largest wetland complexes in Central Asia. We conducted surveys in this region between 1999 and 2008 and present estimates of population size as well as information on phenology and age structure for 50 species of Charadriiformes. The Tengiz-Korgalzhyn wetlands are especially important for Red-necked Phalaropes Phalaropus lobatus and Ruffs Philomachus pugnax with, respectively, 41% and 13% of their flyway populations using the area during spring migration. The region is also an important post-breeding moulting site for Pied Avocets Recurvirostra avosetta and Black-tailed Godwits Limosa limosa used by, respectively, 5% and 4% of their flyway populations. Besides its key importance as a migratory stopover site, the study area is a key breeding site for the Critically Endangered Sociable Lapwing Vanellus gregarius, the Near Threatened Black-winged Pratincole Glare la nordmanni and for Pallas's Gull Larus ichthyaetus with 16%, 6% and 5% of their world populations, respectively. We identified 29 individual sites that held more than 1% of the relevant flyway populations of at least one species of Charadriiformes. Including data on other species of waterbirds (mainly waterfowl), there were 93 sites that qualify for Important Bird Areas (IBA). About half of them are protected in a state nature reserve, while an additional 20% are recognised as IBAs. Nevertheless, 28 important sites are currently not recognised as IBAs nor are they protected by other conservation means. These sites require conservation attention.
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