Imaging genetic studies aim to test how genetic information influences brain structure and function by combining neuroimaging-based brain features and genetic data from the same individual. Most studies focus on individual correlation and association tests between genetic variants and a single measurement of the brain. Despite the great success of univariate approaches, given the capacity of neuroimaging methods to provide a multiplicity of cerebral phenotypes, the development and application of multivariate methods become crucial. In this article, we review novel methods and strategies focused on the analysis of multiple phenotypes and genetic data. We also discuss relevant aspects of multi-trait modelling in the context of neuroimaging data.
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http://dx.doi.org/10.1016/j.csbj.2021.10.019 | DOI Listing |
Nicotine Tob Res
January 2025
Department of Population Health Sciences, University of Leicester, Leicester, UK.
Introduction: Varenicline is an α4β2 nicotinic acetylcholine receptor partial agonist with the highest therapeutic efficacy of any pharmacological smoking cessation aid and a 12-month cessation rate of 26%. Genetic variation may be associated with varenicline response, but to date no genome-wide association studies of varenicline response have been published.
Methods: In this study, we investigated the genetic contribution to varenicline effectiveness using two electronic health record-derived phenotypes.
J Community Genet
January 2025
Laboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.
View Article and Find Full Text PDFPaediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
A value is conventionally interpreted either as a) the probability by chance of obtaining more extreme results than those observed or b) a tool for declaring significance at a prespecified level. Both approaches carry difficulties: b) does not allow users to make inferences based on the data in hand, and is not rigorously followed by researchers in practice, while (a) is not meaningful as an error rate. Although values retain an important role, these shortcomings are likely to have contributed significantly to the scientific reproducibility crisis.
View Article and Find Full Text PDFNeurosurg Rev
January 2025
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Stereotactic radiosurgery (SRS) and radiotherapy (SRT) have gained prominence as both adjuvant and primary treatment options for patients with skull base tumors that are either inoperable or present as residual or recurrent lesions post-surgery. The object of the current study is to evaluate the safety and efficacy of robotic-assisted SRS and SRT across various skull base pathologies. The study was conducted under PRISMA guidelines and involved a comprehensive evaluation of databases, including PubMed, Scopus, Embase, Web-of-Science, and the Cochrane Library.
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