Abstract:
:Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human biological systems on the individual level. Large quantities of biomedical data are now being generated and archived in many separate research and clinical activities, but there exists a paucity of studies that integrate the areas of clinical neuropsychiatry, personal genomics and brain-machine interfaces. Methods. A single person with severe mental illness was implanted with the Medtronic Reclaim(®) Deep Brain Stimulation (DBS) Therapy device for Obsessive Compulsive Disorder (OCD), targeting his nucleus accumbens/anterior limb of the internal capsule. Programming of the device and psychiatric assessments occurred in an outpatient setting for over two years. His genome was sequenced and variants were detected in the Illumina Whole Genome Sequencing Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Results. We report here the detailed phenotypic characterization, clinical-grade whole genome sequencing (WGS), and two-year outcome of a man with severe OCD treated with DBS. Since implantation, this man has reported steady improvement, highlighted by a steady decline in his Yale-Brown Obsessive Compulsive Scale (YBOCS) score from ∼38 to a score of ∼25. A rechargeable Activa RC neurostimulator battery has been of major benefit in terms of facilitating a degree of stability and control over the stimulation. His psychiatric symptoms reliably worsen within hours of the battery becoming depleted, thus providing confirmatory evidence for the efficacy of DBS for OCD in this person. WGS revealed that he is a heterozygote for the p.Val66Met variant in BDNF, encoding a member of the nerve growth factor family, and which has been found to predispose carriers to various psychiatric illnesses. He carries the p.Glu429Ala allele in methylenetetrahydrofolate reductase (MTHFR) and the p.Asp7Asn allele in ChAT, encoding choline O-acetyltransferase, with both alleles having been shown to confer an elevated susceptibility to psychoses. We have found thousands of other variants in his genome, including pharmacogenetic and copy number variants. This information has been archived and offered to this person alongside the clinical sequencing data, so that he and others can re-analyze his genome for years to come. Conclusions. To our knowledge, this is the first study in the clinical neurosciences that integrates detailed neuropsychiatric phenotyping, deep brain stimulation for OCD and clinical-grade WGS with management of genetic results in the medical treatment of one person with severe mental illness. We offer this as an example of precision medicine in neuropsychiatry including brain-implantable devices and genomics-guided preventive health care.
journal_name
PeerJjournal_title
PeerJauthors
O'Rawe JA,Fang H,Rynearson S,Robison R,Kiruluta ES,Higgins G,Eilbeck K,Reese MG,Lyon GJdoi
10.7717/peerj.177subject
Has Abstractpub_date
2013-10-03 00:00:00pages
e177issn
2167-8359pii
177journal_volume
1pub_type
杂志文章相关文献
PeerJ文献大全abstract::Staphylococcus aureus is a drug-resistant pathogen, capable of colonizing diverse ecological niches and causing a broad spectrum of infections related to a community and healthcare. In this study, we choose four methicillin-resistant S. aureus (MRSA) clinical isolates from Germany and Hungary based on our previous pol...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10185
更新日期:2021-01-13 00:00:00
abstract::Ichthyosaur fossils are abundant in Lower Jurassic sediments with nine genera found in the UK. In this paper, we describe the partial skeleton of a large ichthyosaur from the Lower Jurassic (lower Sinemurian) of Warwickshire, England, which was conserved and rearticulated to form the centrepiece of a new permanent gal...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.6112
更新日期:2019-01-08 00:00:00
abstract::Esophageal cancer is a common malignant tumor in the world, and the aim of this study was to screen key genes related to the development of esophageal cancer using a variety of bioinformatics analysis tools and analyze their biological functions. The data of esophageal squamous cell carcinoma from the Gene Expression ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8831
更新日期:2020-03-31 00:00:00
abstract::The capacity for aerial maneuvering was likely a major influence on the evolution of flying animals. Here we evaluate consequences of paravian morphology for aerial performance by quantifying static stability and control effectiveness of physical models for numerous taxa sampled from within the lineage leading to bird...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.632
更新日期:2014-10-16 00:00:00
abstract::In the Mississippi River Basin of North America, invasive bigheaded carp (silver carp Hypophthalmichthys molitrix and bighead carp H. nobilis, also referred to as Asian carp) have spread rapidly over the past several decades. In the Illinois River, an important tributary of the Upper Mississippi River, reproduction ap...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3641
更新日期:2017-09-14 00:00:00
abstract:Background:In the absence of highly effective antiviral therapies against SARS-CoV-2, it is crucial to counter the known pathophysiological causes of severe COVID-19. Evaluating the efficacy existing drugs may expedite the development of such therapeutics. Severe COVID-19 is largely the result of a dysregulated immune ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10322
更新日期:2020-11-02 00:00:00
abstract::Loot boxes are items in video games that may be paid for with real-world money, but which contain randomised contents. There is a reliable correlation between loot box spending and problem gambling severity: the more money gamers spend on loot boxes, the more severe their problem gambling tends to be. However, it is u...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7700
更新日期:2019-10-29 00:00:00
abstract::Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or small insertion/deletions (indels). High throughput sequencing has broadened the catalogue of human variation, including common polymorphisms, rare variations or disease causing mutations. However, identifying one variation among h...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.796
更新日期:2015-03-03 00:00:00
abstract::A previous study found that use of the traditional halibut hook (čibu.d) of the Makah Tribe in present day recreational Pacific halibut (Hippoglossus stenolepis) fisheries significantly reduced bycatch compared to paired 8/0 circle hooks. The study also found that the čibu.d had a significantly reduced catch of halibu...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9288
更新日期:2020-06-12 00:00:00
abstract::Xiphosurans are aquatic chelicerates with a fossil record extending into the Early Ordovician and known from a total of 88 described species, four of which are extant. Known for their apparent morphological conservatism, for which they have gained notoriety as supposed 'living fossils', recent analyses have demonstrat...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10431
更新日期:2020-12-04 00:00:00
abstract:Background:Maize (Zea mays L.) is a principal cereal crop cultivated worldwide for human food, animal feed, and more recently as a source of biofuel. However, as a direct consequence of water insufficiency and climate change, frequent occurrences of both biotic and abiotic stresses have been reported in various regions...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7211
更新日期:2019-07-08 00:00:00
abstract::Root hairs are unicellular elongations of certain rhizodermal cells that improve the uptake of sparingly soluble and immobile soil nutrients. Among different Arabidopsis thaliana genotypes, root hair density, length and the local acclimation to low inorganic phosphate (Pi) differs considerably, when analyzed on split ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.2891
更新日期:2017-01-24 00:00:00
abstract::Among helminth parasites, Paragonimus (zoonotic lung fluke) gains considerable importance from veterinary and medical points of view because of its diversified effect on its host. Nearly fifty species of Paragonimus have been described across the globe. It is estimated that more than 20 million people are infected wor...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.484
更新日期:2014-08-12 00:00:00
abstract::Dengue is endemic throughout tropical and subtropical regions of the world. Currently, there is no clinically approved therapeutic drug available for this acute viral infection. Although the first dengue vaccine Dengvaxia has been approved for use in certain countries, it is limited to those without a previous dengue ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3939
更新日期:2018-01-30 00:00:00
abstract:Background:The effect of fat tissue on a developing individual is fundamentally different from the effect on an adult. Several changes caused by obesity during sexual maturation have an irreversible and severe negative effect (lower fertility, reduced final height, type 2 diabetes mellitus) even for those who have subs...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8951
更新日期:2020-05-11 00:00:00
abstract:Background:Laminitis is a common equine disease characterized by foot pain, and is commonly diagnosed using a five-grade Obel system developed in 1948 using sepsis-related cases. However, endocrinopathic laminitis is now the most common form of the disease and clinical signs may be mild, or spread across two Obel grade...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7084
更新日期:2019-06-07 00:00:00
abstract:Aim:We aimed to translate and cross-culturally adapt the International Knee Documentation Committee-subjective knee form (IKDC) in Romanian. Method:The original (US) IKDC-subjective knee form was translated according to recommended guidelines. Validity was tested using Spearmans's correlation coefficient between score...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8448
更新日期:2020-02-03 00:00:00
abstract::Gymnosperms such as ginkgo, conifers, cycads, and gnetophytes are vital components of land ecosystems, and they have significant economic and ecologic value, as well as important roles as forest vegetation. In this study, we investigated the structural variation and evolution of chloroplast transfer RNAs (tRNAs) in gy...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.10312
更新日期:2020-11-25 00:00:00
abstract:Background:This study evaluates the generalizability of an eight-station progress clinical skills examination and assesses the growth in performance for six clinical skills domains among first- and second-year medical students over four time points during the academic year. Methods:We conducted a generalizability stud...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.9091
更新日期:2020-05-01 00:00:00
abstract::Species identification-of importance for most biological disciplines-is not always straightforward as cryptic species hamper traditional identification. Fibre-optic near-infrared spectroscopy (NIRS) is a rapid and inexpensive method of use in various applications, including the identification of species. Despite its e...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.991
更新日期:2015-09-15 00:00:00
abstract::Background. Nasal continuous positive airway pressure (nCPAP) is a widely accepted technique of non-invasive respiratory support in premature infants with respiratory distress syndrome due to lack of lung surfactant. If this approach fails, the next step is often intubation, mechanical ventilation (MV) and intratrache...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.403
更新日期:2014-05-27 00:00:00
abstract::The Pomacentridae (damselfish) and Apogonidae (cardinalfish) are among the most common fish families on coral reefs and in the aquarium trade. Members of both families undergo a pelagic larvae phase prior to settlement on the reef, where adults play key roles in benthic habitat structuring and trophic interactions. Fi...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.2412
更新日期:2016-08-31 00:00:00
abstract::Correct identification of forensically important insects, such as flies in the family Calliphoridae, is a crucial step for them to be used as evidence in legal investigations. Traditional identification based on morphology has been effective, but has some limitations when it comes to identifying immature stages of cer...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3516
更新日期:2017-07-25 00:00:00
abstract::Microbial transglutaminase (mTG) was used as a crosslinking agent in the preparation of gelatin sponges. The physical properties of the materials were evaluated by measuring their material porosity, water absorption, and elastic modulus. The stability of the sponges were assessed via hydrolysis and enzymolysis. To stu...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.3665
更新日期:2017-08-09 00:00:00
abstract::Trypophobia is a strong emotion of disgust evoked by clusters of holes or round objects (e.g., lotus seed pod). It has become increasingly popular and been studied since 2010s, mainly in the West and Japan. Considering this, trypophobia might be a modern emotion, and hence urbanization possibly plays key roles in tryp...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8837
更新日期:2020-03-18 00:00:00
abstract::Teeth have been a focus of research in both extinct and extant taxa alike; a significant portion of dental literature is concerned with dental patterning and replacement. Most non-mammalian vertebrates continuously replace their dentition but an anomalous group of squamates has forgone this process in only having one ...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.5923
更新日期:2018-11-08 00:00:00
abstract::The most intense commercial harvest of marine aquarium species in North America occurs in the coastal waters surrounding Florida, yet very often little information exists on the life histories, population dynamics, or reproductive characteristics of these organisms. The peppermint shrimp Lysmata boggessi is one such s...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.8231
更新日期:2020-01-23 00:00:00
abstract::Prion diseases are a group of fatal neurodegenerative disorders that affect humans and animals. They are characterized by the accumulation in the central nervous system of a pathological form of the host-encoded prion protein (PrP(C)). The prion protein is a membrane glycoprotein that consists of two domains: a globul...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.811
更新日期:2015-03-19 00:00:00
abstract::Global warming can significantly affect many aspects of the biology of animal species, including their thermal physiology and physiological performance. Thermal performance curves provide a heuristic model to evaluate the impacts of temperature on the ecophysiology of ectotherms. When integrated with other thermal bio...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.7437
更新日期:2019-08-09 00:00:00
abstract::The fight against the emergence of mutant influenza strains has led to the screening of an increasing number of compounds for inhibitory activity against influenza neuraminidase. This study explores the chemical space of neuraminidase inhibitors (NAIs), which provides an opportunity to obtain further molecular insight...
journal_title:PeerJ
pub_type: 杂志文章
doi:10.7717/peerj.1958
更新日期:2016-04-19 00:00:00