scholarly journals Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

2019 ◽  
Author(s):  
Priyanka Nakka ◽  
Samuel Pattillo Smith ◽  
Anne H. O’Donnell-Luria ◽  
Kimberly F. McManus ◽  
Joanna L. Mountain ◽  
...  
Keyword(s):  
General Population ◽  
Clinical Presentation ◽  
Uniparental Disomy ◽  
Runs Of Homozygosity ◽  
Health Consequences ◽  
Learning Framework ◽  
Identical By Descent ◽  
Novel Association ◽  
Meiotic Nondisjunction

SummaryMeiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy (UPD), the inheritance of both homologs of a chromosome from one parent with no representative copy from the other. Current understanding of UPD is limited to ~3,300 cases for which UPD was associated with clinical presentation due to imprinting disorders or recessive diseases. Thus, the prevalence of UPD and its phenotypic consequences in the general population are unknown. We searched for instances of UPD in over four million consented research participants from the personal genetics company 23andMe, Inc., and 431,094 UK Biobank participants. Using computationally detected DNA segments identical-by-descent (IBD) and runs of homozygosity (ROH), we identified 675 instances of UPD across both databases. Here we present the first characterization of UPD prevalence in the general population, a machine-learning framework to detect UPD using ROH, and a novel association between autism and UPD of chromosome 22.

scholarly journals Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

2019 ◽  
Vol 105 (5) ◽  
pp. 921-932 ◽  
Author(s):  
Priyanka Nakka ◽  
Samuel Pattillo Smith ◽  
Anne H. O’Donnell-Luria ◽  
Kimberly F. McManus ◽  
Joanna L. Mountain ◽  
...  
Keyword(s):  
General Population ◽  
Uniparental Disomy ◽  
Health Consequences

scholarly journals Insights into neutralizing antibody responses in individuals exposed to SARS-CoV-2 in Chile

2021 ◽  
Vol 7 (7) ◽  
pp. eabe6855 ◽  
Author(s):  
Carolina Beltrán-Pavez ◽  
Sebastián Riquelme-Barrios ◽  
Aarón Oyarzún-Arrau ◽  
Aracelly Gaete-Argel ◽  
Roxana González-Stegmaier ◽  
...  
Keyword(s):  
General Population ◽  
Local Level ◽  
Neutralizing Antibody ◽  
Host Immunity ◽  
Antibody Responses ◽  
Wild Type ◽  
Neutralization Activity ◽  
Future Studies

Chile has one of the worst numbers worldwide in terms of SARS-CoV-2 positive cases and COVID-19–related deaths per million inhabitants; thus, characterization of neutralizing antibody (NAb) responses in the general population is critical to understanding of immunity at the local level. Given our inability to perform massive classical neutralization assays due to the scarce availability of BSL-3 facilities in the country, we developed and fully characterized an HIV-based SARS-CoV-2 pseudotype, which was used in a 96-well plate format to investigate NAb responses in samples from individuals exposed to SARS-CoV-2 or treated with convalescent plasma. We also identified samples with decreased or enhanced neutralization activity against the D614G spike variant compared with the wild type, indicating the relevance of this variant in host immunity. The data presented here represent the first insights into NAb responses in individuals from Chile, serving as a guide for future studies in the country.

scholarly journals The impact of the COVID-19 pandemic on suicide rates

QJM ◽  
2020 ◽  
Vol 113 (10) ◽  
pp. 707-712 ◽  
Author(s):  
Leo Sher
Keyword(s):  
Mental Health ◽  
Substance Use ◽  
General Population ◽  
Psychiatric Disorders ◽  
Suicidal Behavior ◽  
Health Consequences ◽  
Media Campaigns ◽  
Suicide Rates ◽  
Long Time ◽  
The Impact

Summary Multiple lines of evidence indicate that the coronavirus disease 2019 (COVID-19) pandemic has profound psychological and social effects. The psychological sequelae of the pandemic will probably persist for months and years to come. Studies indicate that the COVID-19 pandemic is associated with distress, anxiety, fear of contagion, depression and insomnia in the general population and among healthcare professionals. Social isolation, anxiety, fear of contagion, uncertainty, chronic stress and economic difficulties may lead to the development or exacerbation of depressive, anxiety, substance use and other psychiatric disorders in vulnerable populations including individuals with pre-existing psychiatric disorders and people who reside in high COVID-19 prevalence areas. Stress-related psychiatric conditions including mood and substance use disorders are associated with suicidal behavior. COVID-19 survivors may also be at elevated suicide risk. The COVID-19 crisis may increase suicide rates during and after the pandemic. Mental health consequences of the COVID-19 crisis including suicidal behavior are likely to be present for a long time and peak later than the actual pandemic. To reduce suicides during the COVID-19 crisis, it is imperative to decrease stress, anxiety, fears and loneliness in the general population. There should be traditional and social media campaigns to promote mental health and reduce distress. Active outreach is necessary, especially for people with a history of psychiatric disorders, COVID-19 survivors and older adults. Research studies are needed of how mental health consequences can be mitigated during and after the COVID-19 pandemic.

scholarly journals Characterization of Fetal Brain Damage in Early Abortions of Ovine Toxoplasmosis

2020 ◽  
Vol 57 (4) ◽  
pp. 535-544
Author(s):  
Daniel Gutiérrez-Expósito ◽  
Noive Arteche-Villasol ◽  
Raquel Vallejo-García ◽  
María C. Ferreras-Estrada ◽  
Ignacio Ferre ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Periventricular Leukomalacia ◽  
Experimental Studies ◽  
Fetal Brain ◽  
Experimental Models ◽  
Pregnant Sheep ◽  
Toxoplasma Gondii Infection ◽  
Inflammatory Syndrome ◽  
Early Abortion

There is an unacknowledged clinical presentation of ovine toxoplasmosis characterized by early abortions and lesions of fetal leukoencephalomalacia. To investigate the pathogenesis of this condition, the extent and distribution of leukomalacia and the variations in the cell populations associated with it were characterized in 32 fetal brains from 2 previously published experimental studies of Toxoplasma gondii infection in pregnant sheep. Immunohistochemical labeling of βAPP allowed for the detection of leukomalacia in 100/110 (91%) studied samples. There was no clear influence of the challenge dose or the area of the brain (frontal lobe, corpus callosum, midbrain, and cerebellum). In tissues with leukomalacia, there was loss of oligodendrocytes and increased number of astrocytes and microglia both in the areas of necrosis but also in the surrounding area. These findings were similar to those described in ovine experimental models (inflammation syndrome and hypoxic models) of periventricular leukomalacia in humans. Thus, a fetal inflammatory syndrome may be involved in the pathogenesis of early abortion in ovine toxoplasmosis. However, further studies are needed to determine the pathogenesis of this clinical presentation because placental thrombosis and resulting hypoxia could also be responsible for the leukomalacia.

scholarly journals Effect of Age on the Clinical Presentation of Incident Symptomatic Urolithiasis in the General Population

2013 ◽  
Vol 189 (1) ◽  
pp. 158-164 ◽  
Author(s):  
Amy E. Krambeck ◽  
John C. Lieske ◽  
Xujian Li ◽  
Eric J. Bergstralh ◽  
L. Joseph Melton ◽  
...  
Keyword(s):  
General Population ◽  
Clinical Presentation ◽  
Effect Of Age

scholarly journals Genome-Wide Characterization of Selection Signatures and Runs of Homozygosity in Ugandan Goat Breeds

2018 ◽  
Vol 9 ◽  
Author(s):  
Robert B. Onzima ◽  
Maulik R. Upadhyay ◽  
Harmen P. Doekes ◽  
Luiz. F. Brito ◽  
Mirte Bosse ◽  
...  
Keyword(s):  
Runs Of Homozygosity ◽  
Selection Signatures ◽  
Genome Wide
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