The paper suggests an application of the precautionary principle to the use of genetics in psychiatry focusing on scientific uncertainty. Different levels of uncertainty are taken into consideration--from the acknowledgement that the genetic paradigm is only one of the possible ways to explain psychiatric disorders, via the difficulties related to the diagnostic path and genetic methods, to the value of the results of studies carried out in this field. Considering those uncertainties, some measures for the use of genetics in psychiatry are suggested. Some of those measures are related to the conceptual limits of the genetic paradigm; others are related to present knowledge and should be re-evaluated.
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http://dx.doi.org/10.1007/s11019-012-9408-6 | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFEur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFJ Neurosci Res
January 2025
Department of Anaesthesiology and Intensive Care, Medical University Sofia, Sofia, Bulgaria.
The primary objective of this study was to examine neurological disorders and cognitive impairments in patients with secondary hypothyroidism and epilepsy undergoing treatment with antiepileptic medications. The study included 184 patients divided into three groups: Group 1 (subclinical hypothyroidism, n = 60), Group 2 (manifest hypothyroidism, n = 64), and Group 3 (control, n = 60). Patients in Group 2 received levothyroxine therapy (initial dose of 25 μg/day, titrated to 50-100 μg/day), while Groups 1 and 2 were treated with anti-seizure medications (valproic acid, 40 mg/kg/day).
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Research Laboratory LR12ES04, Faculty of Medicine of Sousse, University of Sousse, Sousse 4002, Tunisia.
The interplay between the cytokine network and antipsychotic treatment in schizophrenia remains poorly understood. This study aimed to investigate the impact of psychotropic medications on serum levels of IFN-γ, IL-4, TGF-β1, IL-17, and BAFF, and to explore their relationship with psychopathological features. We recruited 63 patients diagnosed with schizophrenia in the acute phase, all of whom were either drug-naïve or had been drug-free for at least three months.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08029 Barcelona, Spain.
High-throughput proteomic platforms are crucial to identify novel Alzheimer's disease (AD) biomarkers and pathways. In this study, we evaluated the reproducibility and reliability of aptamer-based (SomaScan 7k) and antibody-based (Olink Explore 3k) proteomic platforms in cerebrospinal fluid (CSF) samples from the Ace Alzheimer Center Barcelona real-world cohort. Intra- and inter-platform reproducibility were evaluated through correlations between two independent SomaScan assays analyzing the same samples, and between SomaScan and Olink results.
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