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The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.
The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.
Fuente:International Journal of Molecular Sciences
Extracto:
This review aims to provide a comprehensive
overview of our current understanding of the involvement of coding and noncoding
SVs in the genetic architecture of PD.
institución:(a) Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA. (b) Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD 20892, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
institución:(a) Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy. (b) Department of Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Extracellular Vesicles in Environmental Toxicological Studies: Association between Urinary Concentrations of Phthalate Metabolites and Exosomal miRNA Expression Profiles.
Extracellular Vesicles in Environmental Toxicological Studies: Association between Urinary Concentrations of Phthalate Metabolites and Exosomal miRNA Expression Profiles.
Fuente:International Journal of Molecular Sciences
Extracto:
In summary, the obtained results demonstrate that exposure
to environmental phthalates could be related to altered expression profiles of
specific ELV-miRs in adult men, thereby demonstrating the potential of miRs
carried by exosomes to act as early effect biomarkers.
institución:(a) School of Biosciences and Veterinary Medicine, University of Camerino, 62032 Camerino, Italy. (b) Dipartimento di Neuroscienze, Imaging e Scienze Cliniche, University "G. d'Annunzio" of Chieti, 66100 Chieti, Italy.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Tobacco Smoke Condensate Induces Morphologic Changes in Human Papillomavirus-Positive Cervical Epithelial Cells Consistent with Epithelial to Mesenchymal Transition (EMT) with Activation of Receptor Tyrosine Kinases and Regulation of TGFB.
Tobacco Smoke Condensate Induces Morphologic Changes in Human Papillomavirus-Positive Cervical Epithelial Cells Consistent with Epithelial to Mesenchymal Transition (EMT) with Activation of Receptor Tyrosine Kinases and Regulation of TGFB.
Fuente:International Journal of Molecular Sciences
Extracto:
Understanding the molecular pathways and environmental
factors that initiate EMT in ectocervical cells will help delineate molecular
targets for intervention and define the role of EMT in the initiation and
progression of cervical intraepithelial neoplasia and CC.
Claves:cervical cancer (CC), cigarette smoke condensate (CSC), epithelial to mesenchymal transition (EMT), high-risk human papillomavirus (HR-HPV), receptor tyrosine kinase (RTK), transforming growth factor-beta (TGFB)
Cita:Int J Mol Sci 2024 Apr 30; 25 (9)
Autor/es:Mark, Zaniya A (a) Yu, Linda (b)
institución:(a) Department of Biochemistry, Cancer Biology, Neuroscience, and Pharmacology, Meharry Medical College, Nashville, TN 37208, USA. (b) Molecular Pathogenesis Group, Mechanistic Toxicology Branch, National Institute of Environmental Health Sciences, NIH, Research Trriangle Park, Durham, NC 27709, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings
D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings
Fuente:International Journal of Molecular Sciences
Tipo de trabajo:Revisión
Extracto:
We advocate for
using molecular diagnosis in critically ill newborns and infants to improve care,
reduce healthcare costs, and allow for familial counseling.
A Nonlinear Relation between Body Mass Index and Long-Term Poststroke Functional Outcome-The Importance of Insulin Resistance, Inflammation, and Insulin-like Growth Factor-Binding Protein-1.
A Nonlinear Relation between Body Mass Index and Long-Term Poststroke Functional Outcome-The Importance of Insulin Resistance, Inflammation, and Insulin-like Growth Factor-Binding Protein-1.
Fuente:International Journal of Molecular Sciences
Extracto:
Thus, a nonlinear relation between BMI and poor 7-year functional
outcome was differently attenuated in the normal-weight and the obese.
Claves:body mass index (BMI), homeostasis model assessment of insulin resistance (HOMA-IR), insulin-like growth factor-binding protein-1 (IGFBP-1), modified Rankin Score (mRS), obesity paradox
Cita:Int J Mol Sci 2024 Apr 30; 25 (9)
Autor/es:Gadd, Gustaf (a) Åberg, Daniel (b)
institución:(a) Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden. (b) Region Västra Götaland, Department of Acute Medicine and Geriatrics, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.
Conflicto:H.Z. has served at scientific advisory boards and/or as a consultant for Abbvie, Acumen, Alector, Alzinova, ALZPath, Amylyx, Annexon, Apellis, Artery Therapeutics, AZTherapies, Cognito Therapeutics, CogRx, Denali, Eisai, Merry Life, Nervgen, Novo Nordisk, Optoceutics, Passage Bio, Pinteon Therapeutics, Prothena, Red Abbey Labs, reMYND, Roche, Samumed, Siemens Healthineers, Triplet Therapeutics, and Wave, has given lectures in symposia sponsored by Alzecure, Biogen,...
Cellectricon, Fujirebio, Lilly, Novo Nordisk, and Roche, and is a co-founder of Brain Biomarker Solutions in Gothenburg AB (BBS), which is a part of the GU Ventures Incubator Program (outside submitted work).
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Fuente:International Journal of Molecular Sciences
Extracto:
Taken
together, our findings suggest that a relatively common variant in CCDC78 can
impart profound muscle pathology in combination with a LMNA mutation and accounts
for variability in skeletal muscle disease phenotypes.
institución:(a) Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA 52242, USA. (b) Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.
Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.
Fuente:International Journal of Molecular Sciences
Extracto:
This review shows that specific genetic
variants and altered patterns of gene expression in individuals with ASD may have
an effect on brain circuits associated with face processing and social cognition,
and contribute to excitation-inhibition imbalances and to anomalies in brain
volumes.
Claves:autism spectrum disorder, brain imaging, electroencephalography, functional magnetic resonance imaging, magnetic resonance imaging, neurogenetics, neuroimaging, systematic review
Cita:Int J Mol Sci 2024 Apr 30; 25 (9)
Autor/es:Vilela, Joana (a) Rasga, Célia (b)
institución:(a) Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal. (b) BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Ethnicity-Based Variations in Focal Adhesion Kinase Signaling in Glioblastoma Gene Expression: A Study of the Puerto Rican Hispanic Population.
Ethnicity-Based Variations in Focal Adhesion Kinase Signaling in Glioblastoma Gene Expression: A Study of the Puerto Rican Hispanic Population.
Fuente:International Journal of Molecular Sciences
Extracto:
Our findings
reveal distinct correlations in gene expression patterns, particularly involving
PTK2, PTK2B, NGFR, PDGFRB, and EGFR among Puerto Rican Hispanic patients when
compared to non-Hispanic counterparts.
Claves:ethnicity, gene expression, glioblastoma
Cita:Int J Mol Sci 2024 May 1; 25 (9)
Autor/es:Porter, Tyrel (a) Del Valle, Miguel Mayol (b)
institución:(a) Department of Biochemistry, Universidad Central del Caribe, Bayamón, PR 00956, USA. (b) Department of Surgery, Neurosurgery Section, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Age Prediction Using DNA Methylation Heterogeneity Metrics.
Age Prediction Using DNA Methylation Heterogeneity Metrics.
Fuente:International Journal of Molecular Sciences
Extracto:
Although this region-based model was
relatively more efficient than the WSH-based model, the latter required the
analysis of just a few short genomic regions and, therefore, could be a useful
tool to design a reduced epigenetic clock that is analyzed by targeted
next-generation sequencing.
Claves:DNA methylation heterogeneity, bisulfite sequencing, eAge clocks, epigenetic age
Cita:Int J Mol Sci 2024 May 2; 25 (9)
Autor/es:Karetnikov, Dmitry I (a) Romanov, Stanislav E (b)
institución:(a) Federal Research Center Institute of Cytology and Genetics SB RAS, 630090 Novosibirsk, Russia. (b) Epigenetics Laboratory, Department of Natural Sciences, Novosibirsk State University, 630090 Novosibirsk, Russia.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
Fuente:International Journal of Molecular Sciences
Extracto:
The obtained data indicate that
nonsense-mediated decay degradation is not the only mechanism of hereditary
spastic paraplegia in patients with SPAST microrearrangements.
institución:(a) Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland. (b) Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.
Conflicto:Author Christian Beetz was employed by the company Centogene. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest..
Neonatal Vitamin D and Associations with Longitudinal Changes of Eczema up to 25 Years of Age.
Neonatal Vitamin D and Associations with Longitudinal Changes of Eczema up to 25 Years of Age.
Fuente:Nutrients
Extracto:
Higher neonatal
25(OH)D3 levels, a reflection of maternal vitamin D levels in pregnancy, may
reduce the risk of early-onset persistent eczema.
institución:(a) Allergy and Lung Health Unit, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3052, Australia. (b) Allergy and Lung Health Unit, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3052, Australia.
Conflicto:A.J.L., C.J.L. and S.C.D. have received an investigator-initiated grant from GlaxoSmithKline (GSK) for unrelated research, and S.C.D. holds a similar grant from AstraZeneca. A.J.L. has received an investigational product (EpiCeram™) free of charge from Primus Pharmaceuticals for use in unrelated research. A.J.L., S.C.D. and J.J.K. have received grant funding from Sanofi Regeneron for unrelated research. M.J.A. holds investigator-initiated grants from...
om Boehringer-Ingelheim, Pfizer, GSK, and Sanofi Regeneron for unrelated research. He also undertook an unrelated consultancy for Sanofi and received a lecture fee from GSK. Other authors have nothing to disclose.
Comparison between Physical Activity and Stress-Related Lifestyle between Orthorexic and Non-Orthorexic University Students: A Case-Control Study.
Comparison between Physical Activity and Stress-Related Lifestyle between Orthorexic and Non-Orthorexic University Students: A Case-Control Study.
Fuente:Nutrients
Extracto:
Further studies are necessary to highlight the
causality between ON, stress, and physical activity but it may be possible to
hypothesize that "obsessive" physical exercise may not generate the benefits
generally known by the literature.
Claves:eating disorders, lifestyle, mental health, obsessive–compulsive disorders, orthorexia, physical activity, physical exercise, somatizations, stress, university students
Cita:Nutrients 2024 Apr 29; 16 (9)
Autor/es:Guidotti, Sara (a) Fiduccia, Alice (b)
institución:(a) Clinical Psychology, Clinical Psychophysiology and Clinical Neuropsychology Laboratory, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy. (b) Clinical Psychology, Clinical Psychophysiology and Clinical Neuropsychology Laboratory, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Evaluation of the Effect of Parenting Style and Parental Mealtime Actions on the Eating Behavior of Children with Epilepsy.
Evaluation of the Effect of Parenting Style and Parental Mealtime Actions on the Eating Behavior of Children with Epilepsy.
Fuente:Nutrients
Extracto:
Owing
to the chronic disease, the effects of parent-child interaction on the child's
eating behavior in the epilepsy group differed from those of healthy children
reported in the literature.
institución:(a) Department of Nutrition and Dietetics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Atasehir, Istanbul, Turkey. (b) Department of Nutrition and Dietetics, Faculty of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Içerenköy Mahallesi Kayisdagi Caddesi No. 32, 34752 Atasehir, Istanbul, Turkey.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Loss, gain and choice difficulty in gambling patients: Neural and behavioural processes.
Loss, gain and choice difficulty in gambling patients: Neural and behavioural processes.
Fuente:Addiction Biology
Extracto:
In addition, our findings on choice difficulty give new insights on
the psychopathology of GD and on neural processes related to impaired
decision-making in GD.
Claves:choice difficulty, decision‐making, fMRI, gambling, loss aversion
Cita:Addict Biol 2024 May; 29 (5) : e13396.
Autor/es:Freinhofer, Daniel (a) Schwartenbeck, Philipp (b)
institución:(a) Centre for Cognitive Neuroscience and Department of Psychology, University of Salzburg, Salzburg, Austria. (b) Centre for Cognitive Neuroscience and Department of Psychology, University of Salzburg, Salzburg, Austria.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Comparison of the genotoxicity of propofol and desflurane using the comet assay in the lymphocytes of patients who underwent lumbar discectomy: A randomized trial.
Comparison of the genotoxicity of propofol and desflurane using the comet assay in the lymphocytes of patients who underwent lumbar discectomy: A randomized trial.
Fuente:Saudi Medical Journal
Extracto:
Propofol and desflurane do not appear to induce DNA damage in
lymphocytes. However, when the quantitative data were compared, it was determined
that propofol had relatively lower genotoxic potential than
desflurane.ClinicalTrials.gov Reg. No.: NCT05185167.
institución:(a) From the Department of Anesthesiology and Reanimation (Korkmaz Toker, Altiparmak, Ugur); from the Department of Neurosurgery (Gursoy,), Mugla Sıtkı Kocman; from the Department of Anesthesiology and Reanimation (Uysal, Dede), Mugla Sıtkı Kocman University, Training and Research Hospital, Mugla; from the Department of Physiology (Gundogdu); and from the Department of Medical Biology (Dodurga), Medical Faculty, Pamukkale University, Denizli, Turkey. (b) From the Department of Anesthesiology and Reanimation (Korkmaz Toker, Altiparmak, Ugur); from the Department of Neurosurgery (Gursoy,), Mugla Sıtkı Kocman; from the Department of Anesthesiology and Reanimation (Uysal, Dede), Mugla Sıtkı Kocman University, Training and Research Hospital, Mugla; from the Department of Physiology (Gundogdu); and from the Department of Medical Biology (Dodurga), Medical Faculty, Pamukkale University, Denizli, Turkey.
Antibiotic impregnated catheters and intrathecal antibiotics for CSF shunt infection prevention in children undergoing low-risk CSF shunt surgery.
Antibiotic impregnated catheters and intrathecal antibiotics for CSF shunt infection prevention in children undergoing low-risk CSF shunt surgery.
Fuente:Bmc Pediatrics
Tipo de trabajo:Estudio de cohortes
Extracto:
In a large,
observational multicenter cohort, IT antibiotics and AICs do not confer a
statistically significant risk reduction compared to standard care for pediatric
patients undergoing low-risk (i.e., initial or revision) shunt surgeries.
institución:(a) Department of Neurological Surgery, Riverside University Health Sciences Medical Center, Riverside, CA, USA. (b) Center for Child Health, Seattle Children's Research Institute, Behavior, and Development, Seattle, WA, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Carbon monoxide poisoning with hippocampi lesions on MRI
Carbon monoxide poisoning with hippocampi lesions on MRI
Fuente:Bmc Neurology
Tipo de trabajo:Revisión
Extracto:
Hippocampi, as a relatively rare lesion on MRI of CO poisoning, is of
important significance both in the early and delayed stages of acute CO
poisoning. In this article, we summarize the case reports of hippocampal lesions
on MRI in patients with CO poisoning in recent years, in order to provide
reference for the diagnosis and prognosis of CO poisoning.
Claves:Carbon monoxide, Case report, Hippocampi, Magnetic resonance imaging, Poisoning
Cita:BMC Neurol 2024 May 11; 24 (1) : 159.
Autor/es:Li, Wenxia (a) Meng, Jun (b)
institución:(a) Clinical College of Neurology, Neurosurgery and Neurorehabilitation, Tianjin Medical University, Tianjin, 300070, China. (b) Tianjin Huanhu Hospital, Tianjin, 300350, China.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Cita:J Neuroinflammation 2024 May 11; 21 (1) : 126.
Autor/es:Altınönder, İlayda (a) Kaya, Mustafa (b)
institución:(a) Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey. (b) Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey.
Conflicto:None of the authors has any potential financial conflict of interest related to this manuscript.
Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder.
Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder.
Fuente:Translational Psychiatry
Extracto:
Taken together, our findings indicated that SCN11A
may serve as a link between low lipid levels and MDD, and showed promise as a
candidate biomarker for MDD.
Cita:Transl Psychiatry 2024 May 11; 14 (1) : 202.
Autor/es:Xu, Ke (a) Zhao, Shuang (b)
institución:(a) Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. (b) National Health Commission Key Laboratory of Diagnosis and Treatment on Brain Functional Diseases, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación