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- Patel, Y., et al.
(författare)
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Virtual Ontogeny of Cortical Growth Preceding Mental Illness
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 92:4, s. 299-313
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Tidskriftsartikel (refereegranskat)abstract
- Background: Morphology of the human cerebral cortex differs across psychiatric disorders, with neurobiology and developmental origins mostly undetermined. Deviations in the tangential growth of the cerebral cortex during pre/perinatal periods may be reflected in individual variations in cortical surface area later in life. Methods: Interregional profiles of group differences in surface area between cases and controls were generated using T1-weighted magnetic resonance imaging from 27,359 individuals including those with attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia, and high general psychopathology (through the Child Behavior Checklist). Similarity of interregional profiles of group differences in surface area and prenatal cell-specific gene expression was assessed. Results: Across the 11 cortical regions, group differences in cortical area for attention-deficit/hyperactivity disorder, schizophrenia, and Child Behavior Checklist were dominant in multimodal association cortices. The same interregional profiles were also associated with interregional profiles of (prenatal) gene expression specific to proliferative cells, namely radial glia and intermediate progenitor cells (greater expression, larger difference), as well as differentiated cells, namely excitatory neurons and endothelial and mural cells (greater expression, smaller difference). Finally, these cell types were implicated in known pre/perinatal risk factors for psychosis. Genes coexpressed with radial glia were enriched with genes implicated in congenital abnormalities, birth weight, hypoxia, and starvation. Genes coexpressed with endothelial and mural genes were enriched with genes associated with maternal hypertension and preterm birth. Conclusions: Our findings support a neurodevelopmental model of vulnerability to mental illness whereby prenatal risk factors acting through cell-specific processes lead to deviations from typical brain development during pregnancy.
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| 2. |
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| 3. |
- Andreeva, S, et al.
(författare)
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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
- 2022
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Ingår i: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 13, s. 743472-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass.
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| 4. |
- Kurbanov, R.N., et al.
(författare)
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A detailed luminescence chronology of the Lower Volga loess-palaeosol sequence at Leninsk
- 2022
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Ingår i: Quaternary Geochronology. - : Elsevier. - 1871-1014 .- 1878-0350. ; 73
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Tidskriftsartikel (refereegranskat)abstract
- We present a detailed luminescence chronology of the loess-palaeosol sequences in the Lower Volga region of Russia at the Leninsk site – an important palaeogeographic archive describing the climate and environmental conditions of regressive stages of the Caspian Sea. The chronology of these sediments has received very little attention compared to the under- and overlying marine deposits. The degree of bleaching was addressed by making use of the differential resetting rates of quartz and feldspar. Our results show that the quartz OSL and feldspar pIRIR50,290 signals were sufficiently bleached before deposition and uncertainties in bleaching have a negligible impact on the reliability of the luminescence ages. The combined quartz OSL and K-feldspar pIRIR50,290 chronology constrains the main stages of the Northern Caspian Lowland evolution during the Late Quaternary. During early MIS 5 (130–120 ka), the northern part of the Lower Volga was covered by a shallow brackish water estuary of the warm Late Khazarian Caspian Sea transgression. After ∼122 ka, the Volga incised the Northern Caspian Lowland surface following sea-level decrease and the start of subaerial conditions at Leninsk. Loess accumulation rate increased towards the end of MIS 5 and two palaeosols of presumably MIS 5с and MIS 5a age formed, exhibiting features evidencing a dry, cold climate, influenced by long seasonal flooding by the Volga River. Cryogenesis affecting the MIS 5a soil is a regional phenomenon and is dated to between ∼70 and 90 ka. The overlying thick Atelian loess unit formed during the cold periods of MIS 4 and MIS 3. Clear erosional features at the top of the Atelian loess are constrained by luminescence to ∼35 to ∼24 ka, allowing reconstruction of erosion of 150–200 cm of loess.
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