Schizophrenia: genetic insights with clinical potential

Author(s):  
Olav B. Smeland ◽  
Ole A. Andreassen
Keyword(s):  
2020 ◽  
Vol 63 (5) ◽  
pp. 1618-1635
Author(s):  
Céline Richard ◽  
Mary Lauren Neel ◽  
Arnaud Jeanvoine ◽  
Sharon Mc Connell ◽  
Alison Gehred ◽  
...  

Purpose We sought to critically analyze and evaluate published evidence regarding feasibility and clinical potential for predicting neurodevelopmental outcomes of the frequency-following responses (FFRs) to speech recordings in neonates (birth to 28 days). Method A systematic search of MeSH terms in the Cumulative Index to Nursing and Allied HealthLiterature, Embase, Google Scholar, Ovid Medline (R) and E-Pub Ahead of Print, In-Process & Other Non-Indexed Citations and Daily, Web of Science, SCOPUS, COCHRANE Library, and ClinicalTrials.gov was performed. Manual review of all items identified in the search was performed by two independent reviewers. Articles were evaluated based on the level of methodological quality and evidence according to the RTI item bank. Results Seven articles met inclusion criteria. None of the included studies reported neurodevelopmental outcomes past 3 months of age. Quality of the evidence ranged from moderate to high. Protocol variations were frequent. Conclusions Based on this systematic review, the FFR to speech can capture both temporal and spectral acoustic features in neonates. It can accurately be recorded in a fast and easy manner at the infant's bedside. However, at this time, further studies are needed to identify and validate which FFR features could be incorporated as an addition to standard evaluation of infant sound processing evaluation in subcortico-cortical networks. This review identifies the need for further research focused on identifying specific features of the neonatal FFRs, those with predictive value for early childhood outcomes to help guide targeted early speech and hearing interventions.


2019 ◽  
Vol 23 (04) ◽  
pp. 392-404 ◽  
Author(s):  
Frances E. Walstra ◽  
Jonathan Hickle ◽  
Peter Duggan ◽  
Rashid Alsharhan ◽  
Nicolas Murray ◽  
...  

Dual-energy computed tomography (DECT) has the potential to detect musculoskeletal pathology with greater sensitivity than conventional CT alone at no additional radiation dose to the patient. It therefore has the potential to reduce the need for further diagnostic imaging or procedures (e.g., joint aspirations in the case of gout or magnetic resonance imaging to confirm undisplaced fractures).DECT is a well-established technique for the detection of gout arthropathy. Multiple newer applications have shown clinical potential including bone marrow edema detection and metal artifact reduction. Collagen analysis, bone marrow lesion detection, and iodine mapping in CT arthrography are areas of possible future application and development.This article outlines 10 tips on the use of DECT imaging of the musculoskeletal system, explaining the technique and indications with practical suggestions to help guide the radiologist.


2013 ◽  
Vol 20 (7) ◽  
pp. 899-907
Author(s):  
C.L.T. Chang ◽  
Yi-Ching Chen ◽  
Hui-Ming Chen ◽  
Ning-Sun Yang ◽  
Wen-Chin Yang

Author(s):  
Mirazkar D. Pandareesh ◽  
Vivek Hamse Kameshwar ◽  
Kullaiah K. Byrappa

: Prostate cancer is a multifactorial disease that mainly occurs due to the accumulation of somatic, genetic and epigenetic changes, resulting in the inactivation of tumor-suppressor genes and activation of oncogenes. Mutations in genes, specifically those that control cell growth and division or the repair of damaged DNA, make the cells grow and divide uncontrollably to form a tumor. The risk of developing prostate cancer depends upon the gene that has undergone the mutation. Identifying such genetic risk factors for prostate cancer pose a challenge for the researchers. Besides genetic mutations, many epigenetic alterations including DNA methylation, histone modifications (methylation, acetylation, ubiquitylation, sumoylation, and phosphorylation) nucleosomal remodelling, and chromosomal looping, have been significantly contributed to the onset of prostate cancer as well as the prognosis, diagnosis, and treatment of prostate cancer. Chronic inflammation also plays a major role in the onset and progression of human cancer, via. modifications in the tumor microenvironment by initiating epithelial-mesenchymal transition and remodelling the extracellular matrix. In this article, the authors present a brief history of the mechanisms and potential links between the genetic aberrations, epigenetic changes, inflammation and inflammasomes that are known to contribute to the prognosis of prostate cancer. Furthermore, the authors examine and discuss clinical potential of prostate carcinogenesis in relation to epigenetics and inflammation for its diagnosis and treatment.


2020 ◽  
Vol 06 ◽  
Author(s):  
Sayed Md Mumtaz ◽  
Madhu Gupta ◽  
Ramesh K. Goyal

Abstract:: The placenta that maintains and regulates the growth of fetus, consists of various biological treasures nutrients such as cytomedines, vitamins, trace elements, amino acids, peptides, growth factors and other biologically active constituents. Their therapeutic usefulness can well define in the terms of biochemical mechanisms of various components present in it. Biomedical waste derived extract is also a panacea for treatment of various diseases. Placental therapy has been reported specifically to have potent action on recovery of diseases and tissue regeneration. Placental bioactive components and their multi targeting identity prompted us to compile the précised information on placental extract products. However, some findings are needed to be explored by scientific community to prove their clinical potential with clinically significant statistical conclusions. In the light of available information and the usefulness of the placental extract, it is necessary for the development of various formulations for various unmet meet for the treatment as well as access their adverse effects as well as contradictions and precisely evaluated in the short and in the long-term periods.


2021 ◽  
Vol 7 (3) ◽  
pp. 47
Author(s):  
Marios Lange ◽  
Rodiola Begolli ◽  
Antonis Giakountis

The cancer genome is characterized by extensive variability, in the form of Single Nucleotide Polymorphisms (SNPs) or structural variations such as Copy Number Alterations (CNAs) across wider genomic areas. At the molecular level, most SNPs and/or CNAs reside in non-coding sequences, ultimately affecting the regulation of oncogenes and/or tumor-suppressors in a cancer-specific manner. Notably, inherited non-coding variants can predispose for cancer decades prior to disease onset. Furthermore, accumulation of additional non-coding driver mutations during progression of the disease, gives rise to genomic instability, acting as the driving force of neoplastic development and malignant evolution. Therefore, detection and characterization of such mutations can improve risk assessment for healthy carriers and expand the diagnostic and therapeutic toolbox for the patient. This review focuses on functional variants that reside in transcribed or not transcribed non-coding regions of the cancer genome and presents a collection of appropriate state-of-the-art methodologies to study them.


Pharmaceutics ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 878
Author(s):  
Oskar Gustafsson ◽  
Julia Rädler ◽  
Samantha Roudi ◽  
Tõnis Lehto ◽  
Mattias Hällbrink ◽  
...  

The toolbox for genetic engineering has quickly evolved from CRISPR/Cas9 to a myriad of different gene editors, each with promising properties and enormous clinical potential. However, a major challenge remains: delivering the CRISPR machinery to the nucleus of recipient cells in a nontoxic and efficient manner. In this article, we repurpose an RNA-delivering cell-penetrating peptide, PepFect14 (PF14), to deliver Cas9 ribonucleoprotein (RNP). The RNP-CPP complex achieved high editing rates, e.g., up to 80% in HEK293T cells, while being active at low nanomolar ranges without any apparent signs of toxicity. The editing efficiency was similar to or better compared to the commercially available reagents RNAiMAX and CRISPRMax. The efficiency was thoroughly evaluated in reporter cells and wild-type cells by restriction enzyme digest and next-generation sequencing. Furthermore, the CPP-Cas9-RNP complexes were demonstrated to withstand storage at different conditions, including freeze-thaw cycles and freeze-drying, without a loss in editing efficiency. This CPP-based delivery strategy complements existing technologies and further opens up new opportunities for Cas9 RNP delivery, which can likely be extended to other gene editors in the future.


2021 ◽  
Vol 11 (5) ◽  
pp. 2037
Author(s):  
Benjamin J. Fregly

The ultimate goal of most neuromusculoskeletal modeling research is to improve the treatment of movement impairments. However, even though neuromusculoskeletal models have become more realistic anatomically, physiologically, and neurologically over the past 25 years, they have yet to make a positive impact on the design of clinical treatments for movement impairments. Such impairments are caused by common conditions such as stroke, osteoarthritis, Parkinson’s disease, spinal cord injury, cerebral palsy, limb amputation, and even cancer. The lack of clinical impact is somewhat surprising given that comparable computational technology has transformed the design of airplanes, automobiles, and other commercial products over the same time period. This paper provides the author’s personal perspective for how neuromusculoskeletal models can become clinically useful. First, the paper motivates the potential value of neuromusculoskeletal models for clinical treatment design. Next, it highlights five challenges to achieving clinical utility and provides suggestions for how to overcome them. After that, it describes clinical, technical, collaboration, and practical needs that must be addressed for neuromusculoskeletal models to fulfill their clinical potential, along with recommendations for meeting them. Finally, it discusses how more complex modeling and experimental methods could enhance neuromusculoskeletal model fidelity, personalization, and utilization. The author hopes that these ideas will provide a conceptual blueprint that will help the neuromusculoskeletal modeling research community work toward clinical utility.


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