The role of psychosis and clozapine load in excessive checking in treatment-resistant schizophrenia: longitudinal observational study.

Publication: BJPsych

Emilio Fernandez-Egea, Shanquan Chen, Estela Sangüesa, Patricia Gassó, Marjan Biria, James Plaistow, Isaac Jarratt-Barnham, Nuria Segarra, Sergi Mas, Maria-Pilar Ribate, Cristina B García, Naomi A Fineberg, Yulia Worbe, Rudolf N Cardinal, Trevor W Robbins

Summary

This study looked at a group of people treated with clozapine for schizophrenia, examining obsessive-compulsive symptoms (OCS). For some, genetic variants were examined. OCS were common in this group (37.9%). Analysis suggested that both psychosis and clozapine may drive aspects of OCS.

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Cortical gene expression architecture links healthy neurodevelopment to the imaging, transcriptomics and genetics of autism and schizophrenia

Publication: Nature Neuroscience

Richard Dear, Konrad Wagstyl, Jakob Seidlitz, Ross D. Markello, Aurina Arnatkevičiūtė, Kevin M. Anderson, Richard A. I. Bethlehem, Lifespan Brain Chart Consortium, Armin Raznahan, Edward T. Bullmore & Petra E. Vértes

22 April 2024

Summary

Human brain organization involves the coordinated expression of thousands of genes. For example, the first principal component (C1) of cortical transcription identifies a hierarchy from sensorimotor to association regions. In this study, optimized processing of the Allen Human Brain Atlas revealed two new components of cortical gene expression architecture, C2 and C3, which are distinctively enriched for neuronal, metabolic and immune processes, specific cell types and cytoarchitectonics, and genetic variants associated with intelligence. Using additional datasets (PsychENCODE, Allen Cell Atlas and BrainSpan), we found that C1–C3 represent generalizable transcriptional programs that are coordinated within cells and differentially phased during fetal and postnatal development.

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Childhood maltreatment influences adult brain structure through its effects on immune, metabolic, and psychosocial factors

Publication: PNAS

Sofia C. Orellana Richard A. I. Bethlehem, Ivan L. Simpson-Kent and Edward T. Bullmore

9 April 2024

Summary

A new study has found that childhood maltreatment can have an impact into adulthood because of how it effects an individual’s risk of poor physical health and traumatic experiences many years later

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Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Publication: Nature Genetics

Yajie Zhao, Maria Chukanova, Katherine A. Kentistou, Zammy Fairhurst-Hunter, Anna Maria Siegert, Raina Y. Jia, Georgina K. C. Dowsett, Eugene J. Gardner, Katherine Lawler, Felix R. Day, Lena R. Kaisinger, Yi-Chun Loraine Tung, Brian Yee Hong Lam, Hsiao-Jou Cortina Chen, Quanli Wang, Jaime Berumen-Campos, Pablo Kuri-Morales, Roberto Tapia-Conyer, Jesus Alegre-Diaz, Inês Barroso, Jonathan Emberson, Jason M. Torres, Rory Collins, Danish Saleheen, Katherine R. Smith, Dirk S. Paul, Florian Merkle, I. Sadaf Farooqi, Nick J. Wareham, Slavé Petrovski, Stephen O’Rahilly, Ken K. Ong, Giles S. H. Yeo & John R. B. Perry

4 April 2024

Summary

A study has identified genetic variants in two genes that have some of the largest impacts on obesity risk discovered to date.

The discovery of rare variants in the genes BSN and APBA1 are some of the first obesity-related genes identified for which the increased risk of obesity is not observed until adulthood.

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Integration of polygenic and gut metagenomic risk prediction for common diseases

Publication: Nature aging

Yang Liu, Scott C. Ritchie, Shu Mei Teo, Matti O. Ruuskanen, Oleg Kambur, Qiyun Zhu, Jon Sanders, Yoshiki Vázquez-Baeza, Karin Verspoor, Pekka Jousilahti, Leo Lahti, Teemu Niiranen, Veikko Salomaa, Aki S. Havulinna, Rob Knight, Guillaume Méric & Michael Inouye

25 March 2024

Summary

Researchers have shown that risk scores based on our genes and gut bacteria can improve the prediction of diseases such as type 2 diabetes and prostate cancer over traditional risk factors alone.

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Impact of vaccination on the association of COVID-19 with cardiovascular diseases: An OpenSAFELY cohort study

Publication: Nature Communications

Genevieve I. Cezard, Rachel E. Denholm, Rochelle Knight, Yinghui Wei, Lucy Teece, Renin Toms, Harriet J. Forbes, Alex J. Walker, Louis Fisher, Jon Massey, Lisa E. M. Hopcroft, Elsie M. F. Horne, Kurt Taylor, Tom Palmer, Marwa Al Arab, Jose Ignacio Cuitun Coronado, Samantha H. Y. Ip, Simon Davy, Iain Dillingham, Sebastian Bacon, Amir Mehrkar, Caroline E. Morton, Felix Greaves, Catherine Hyams, George Davey Smith, John Macleod, Nishi Chaturvedi, Ben Goldacre, William N. Whiteley, Angela M. Wood, Jonathan A. C. Sterne & Venexia Walker On behalf of the Longitudinal Health and Wellbeing and Data and Connectivity UK COVID-19 National Core Studies, CONVALESCENCE study and the OpenSAFELY collaborative

11 March 2024

Summary

Researchers looked at cardiovascular diseases in different vaccination and variant eras using linked electronic health records for ~40% of the English population. They studied distinct groups: a ‘pre-vaccination’ cohort in the wild-type/Alpha variant eras and ‘vaccinated’ and ‘unvaccinated’ cohorts in the Delta variant era.

They showed that people with COVID-19 are more likely to develop cardiovascular diseases in the first 4 weeks after diagnosis compared to people without COVID-19. The effects can be long lasting. The excess risk of cardiovascular disease remains elevated up to 6 months after COVID-19 diagnosis but it reduces over time. People who had COVID-19 in the wild-type/Alpha variant eras (before vaccination became available to them) are at higher risk of cardiovascular events up to two years after COVID-19.

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Socioemotional and Psychological Outcomes of Hypoxic-Ischemic Encephalopathy: A Systematic Review

Publication: Pediatrics

Grace H. Kromm; Hilary Patankar; Shubang Nagalotimath; Hilary Wong, Topun Austin,

5 March 2024

Summary

Babies who suffer brain injury before, during or shortly after birth because of lack of oxygen to the brain may face longer-term socioemotional and psychological complications, research supported by the NIHR Cambridge BRC has shown. Read the news article.

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Antibiotic resistance determination using Enterococcus faecium whole-genome sequences: a diagnostic accuracy study using genotypic and phenotypic data

Publication: Lancet Microbe

Francesc Coll, Theodore Gouliouris, Beth Blane, Corin A Yeats, Kathy E Raven, Catherine Ludden, Fahad A Khokhar, Hayley J Wilson, Leah W Roberts, Ewan M Harrison, Carolyne S Horner, Le Thi Hoi, Nguyen Thi Hoa, Nguyen Vu Trung, Nicholas M Brown, Prof Mark A Holmes, Prof Julian Parkhill, P Mili Estee Török, Prof Sharon J Peacock,

11 January 2024

Summary

A team of scientists at the Cambridge University Hospitals NHS Foundation Trust, University of Cambridge, Wellcome Sanger Institute and the London School of Hygiene and Tropical Medicine have gone a step forward by establishing the agreement between culture-based laboratory methods and genome sequencing for antibiotic resistance determination in Enterococcus faecium, one of the top 10 bacterial pathogens with the highest mortality burden globally. The team curated a set of over 200 genetic markers that most accurately predict resistance to 12 different, clinically relevant antibiotics in a collection of over 4,000 E. faecium strains. For key antibiotics such as ampicillin, ciprofloxacin, vancomycin and linezolid, the team reported very high diagnostic accuracy, and improved accuracy for the detection of resistance to other antibiotics compared to previous state-of-the-art predictive methods. In addition, the authors implemented the antibiotic resistance predictions on Pathogenwatch

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Prediction of spontaneous preterm birth using supervised machine learning on metabolomic data: A case–cohort study

Yasmina Al Ghadban, Yuheng Du, D. Stephen Charnock-Jones, Lana X. Garmire, Gordon C. S. Smith, Ulla Sovio

20 November 2023

Summary

This study identified metabolites from the blood of pregnant mothers that are predictive of spontaneous preterm birth. The results require validation in external populations.

Perseveration and shifting in obsessive–compulsive disorder as a function of uncertainty, punishment, and serotonergic medication.

Annemieke M. Apergis-Schoute, Febe E. van der Flier, Samantha H.Y. Ip, Jonathan W. Kanen, Matilde M. Vaghi, Naomi A. Fineberg, Barbara J. Sahakian, Rudolf N. Cardinal, Trevor W. Robbins

13 July 2023

Summary

People with obsessive-compulsive disorder (OCD) can show both “perseveration” (persisting with an action after it is no longer advantageous) or “shifting” to other actions, depending on the situation they are in. In experimental tests, perseveration was related to the severity of OCD, and improved by medication that influences serotonin neurotransmitter systems.

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