Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Base editing”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,027 records · Page 57Linked to original sources

["While breathing, one will die"--descriptions of diseases in the writings of Carl Michael Bellman].

The Swedish poet Carl Michael Bellman (1740-1795) was one of the world's great song-writers. His exuberant characters include society's outcasts, many of them portrayed in great detail, with suffering and death frequently forming the backdrop for his often joyous poetry which gives unique glimpses of the living conditions in 17th-century Stockholm. The article is based on a study of the Swedish Bellman Society's "Standardupplaga", the complete edition in 19 volumes of the work of C.M. Bellman (published 1921-2001). Bellman described many of the most important diseases of his time. The descriptions are often mere depictions of symptoms and allusions to disease. They reflect Bellman's distinctive and extremely visual narrative technique, as well as the literary and social frames of reference of his time. It is argued that his frequent descriptions of suffering and death are among the reasons for, and not contradictory to, the reception he has received as a poet of life and joy.

Alcohol Drinking↗

Protégé-2000: an open-source ontology-development and knowledge-acquisition environment.

Protégé-2000 is an open-source tool that assists users in the construction of large electronic knowledge bases. It has an intuitive user interface that enables developers to create and edit domain ontologies. Numerous plugins provide alternative visualization mechanisms, enable management of multiple ontologies, allow the use of interference engines and problem solvers with Protégé ontologies, and provide other functionality. The Protégé user community has more than 7000 members.

Database Management Systems↗

SNPCEQer II: the integrated detection and analysis of SNPs in DNA sequences.

SNPCEQer II is a graphical user interface (GUI)-based application that integrates single nucleotide polymorphism (SNP) detection, SNP analysis and SNP editing in the Microsoft Windows (R) environment. SNPCEQer II detects SNPs in DNA sequences generated by the Beckman CEQ TM 2000 XL DNA analysis system. It provides tools to analyse SNPs by inspecting and comparing trace data (chromatograms) around putative SNPs with that of other related DNA sequences, and it can search for those SNPs in the National Center for Biotechnology Information (NCBI) databases. SNPCEQer II can determine the mutation type of a coding SNP and generate data for submission to the dbSNP database. The SNP report can be edited and printed, as can the chromatograms. SNPCEQer II is implemented in Visual C++.

Algorithms↗

[The role of behavioral science in animal welfare in teaching and practical application].

This paper gives an introduction on the importance of ethology as a basis for the ethical animal welfare. The last edition of the Animal Welfare Act of the Federal Republic of Germany is based on the ethological principle which includes, that the animal must be free to satisfy its needs and preserve itself from damage by using of adequate behavioural patterns. With the help of observing animal behaviour the veterinarian can remark faults in the animal management before pain, suffering or injuries set it. So the importance of the ethology in the system of veterinary education is clear. Pertinent information shall promote the dialogue between scientists working in the field of animal behaviour and people engaged in animal welfare.

Animal Welfare↗

A standardized form for DSM-IV review of symptoms and mental status examination for students and residents.

A common error by medical students and residents is the inadvertent omission of some part of the mental status examination or failure to screen for a psychiatric diagnosis that is not evident on the patient's presentation. The authors introduce a structured questionnaire and standardized form to guide psychiatric and generalist medical trainees through the mental status examination. Based on criteria from the Diagnostic and Statistical Manual of Mental Disorders--Fourth Edition (DSM-IV), the questionnaire and form are intended to facilitate a psychiatric review of patients without missing key points.

Humans↗

[Cognitive function and its evaluation methods in Parkinson's disease--a study including RCPM and ERP].

In order to investigate features of cognitive impairment in idiopathic Parkinson's disease (PD) and suitable methods for the cognitive evaluation of patients with PD, 23 PD patients and 15 normal control subjects were studied using neuropsychological tests and auditory event-related potential (ERP). The two groups did not differ from each other in age or education. Clinical severity of the patients based on Hoehn & Yahr's staging ranged from stage I to IV: 7 patients at stage I, 8 at stage II, 7 at stage III and 1 at stage IV. All patients achieved the Mini-Mental State test (MMS) scores of 24 or greater, and none of the patients showed middle or serious grade of dementia based on the Diagnostic and Statistical Manual of Mental Disorders-Third edition-Revised (DSM-III-R). All patients and controls underwent MMS, the Hasegawa's Dementia Screening Scale (HDS), the Wechsler Adult Intelligence Scale-Revised (WAIS-R), the Raven's coloured progressive matrices (RCPM), The Wisconsin Card Sorting Test (WCST) and the Benton Visual Retention Test (BVRT). Auditory ERPs by standard oddball paradigm (two-choice reaction time task) were elicited (band-pass 0.1-50 Hz) from Cz electrode sites on all subjects with a random series of binaural 1,000 (standard; 80%) or 2,000 (target; 20%) Hz tones presented every 2 sec at 70 dB SPL. In RCPM, N100 peak latencies of ERP (target and standard), performance-IQ of WAIS-R (especially block design and digit symbol subtests) and in error scores of BVRT there were striking differences between the two groups (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

Converting a presentation to a manuscript.

Presenting and publishing are closely linked. Although many authors are later asked to speak, the reverse is also true. Many presenters are asked to author manuscripts based on their presentations. This author who is experienced in professional presentations and editing gives tips to nurse authors on how to develop a manuscript from a presentation.

Humans↗

Evidence-based clinical occupational medicine: updating the ACOEM occupational medicine practice guidelines.

In this article, we review the evolution and application of evidence based medicine and the results of the literature reviews and syntheses incorporated in the second edition of the guidelines. Our intent is to disseminate this information to practitioners treating injured workers and those managing and financing such care and disability management. Use of proven diagnostic, causality, testing,and treatment methods should markedly improve the quality of occupational medical care and make that care more cost effective.

Evidence-Based Medicine↗

Incidence rates for alcohol dependence among adults: prospective data from the Baltimore Epidemiologic Catchment Area Follow-Up Survey, 1981-1996.

OBJECTIVE: Using prospectively gathered data, we assessed cumulative incidence of alcohol dependence using the Diagnostic Interview Schedule (DIS) based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition (DSM-III-R). METHOD: Probability samples of area residents were selected by census tracts and households in five communities of the Epidemiologic Catchment Area Survey program. The baseline interview for the Baltimore site was completed in 1981, and between 1993 and 1996 the original Baltimore site cohort was traced. After excluding individuals with current or prior history of alcohol dependence at the time of the baseline interview, we identified a cohort of 1,642 individuals who were at risk for alcohol dependence. Person-years of risk were calculated, cumulative incidence obtained, and survival analyses completed. RESULTS: Several principal findings that confirm some from studies of shorter follow-up intervals are as follows: (1) incidence of alcohol dependence is consistently greater for men and generally decreases with age; (2) problem drinkers have the highest incidence of dependence, and the male-to-female ratio is attenuated in this group; (3) no differences were found for risk of dependence by racial group; and (4) predictors of alcohol dependence include male gender, young age, not being married and having a history of tobacco smoking. CONCLUSIONS: The current study supplies data on the rate of development of DIS/DSM-III-R alcohol dependence in a population-based sample with an extended interval of follow-up. Methodological considerations in the analysis and interpretation of this type of prospectively gathered data are discussed.

Adolescent↗

Selective import of nuclear-encoded tRNAs into mitochondria of the protozoan Leishmania tarentolae.

The trypanosomatid mitochondrial genome does not encode tRNA genes at all and experimental evidence obtained with Leishmania tarentolae shows that tRNAs in mitochondria represent a selected set of imported nuclear-encoded tRNAs. In this paper we present the data showing that tRNAs derived from the clustered genomic tRNA genes are invariably imported into mitochondria, while tRNA from the solitary gene is not. By sequencing a cosmid DNA clone of L. tarentolae genomic DNA, we have identified a 1.5-kb subclone encoding a duplicate set of the closely linked tRNA(Tyr) (GTA) and tRNA(Thr) (AGT) genes. Northern analysis shows that these tRNAs are imported into mitochondria. In contrast, when the tRNA gene [tRNA(Gln) (CUG)] located alone in a 40-kb DNA fragment was examined, the corresponding tRNA was not detected in the mitochondrion. This "loner" tRNA gene is highly unusual since the 3'-flanking putative RNA polymerase III transcription termination signal sequence is characterized by a long string of 8 Ts followed by an A and a stretch of 7 Cs, while all other trypanosomatid tRNA genes whose tRNA transcripts are imported are terminated by a possible transcription termination signal of only 4-6 Ts. Whether the correlation found between the gene organization and tRNA-import characteristics is of general significance needs to be investigated further. A simple computer analysis presented in this paper rules out the possibility that tRNAs found in the trypanosomatid mitochondrion are the products of the U-addition type 'RNA editing' of maxicircle DNA.

Animals↗

Depression in children and adolescents with sickle-cell disease.

OBJECTIVE: To look at the role of a standardized screening test for assessing depression in children and adolescents with and without sickle-cell disease and to compare findings with this instrument with clinical evaluations by child psychiatrists. In addition, to suggest the prevalence of clinical depression in children and adolescents with sickle-cell disease. DESIGN: Nonrandomized, sequential sample of subjects, convenience control sample, prevalence study using the Children's Depression Rating Scale-Revised and an interview assessment by a child psychiatrist based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition. SETTING: Comprehensive Sickle Cell Center outpatient clinic and ambulatory Resident Practice Clinic at the University of South Alabama Children's Medical Center, Mobile. STUDY PARTICIPANTS: Patients aged 6 through 18 years with homozygous sickle-cell disease (hemoglobin SS) served as study subjects. Subjects of the same age and race who did not have sickle-cell disease served as controls. MEASUREMENTS AND RESULTS: The mean Children's Depression Rating Scale-Revised total scores were 27.1 and 22.1 in study and control groups, respectively (P = .0073). Eleven (29%) of 38 children in the study group had scores indicating a high risk for clinical depression. Four (12%) of 34 children in the control group were in this category. The four items accounting for most of this significant difference were excessive fatigue, physical complaints, self-esteem, and morbid ideation. This contrasted with the clinical evaluation by a child psychiatrist in a clinical interview in which 13% of study subjects and 15% of control subjects had evidence of clinical depression (P = .85). CONCLUSION: Excessive fatigue and physical complaint factors contributed to a high false-positive rate when the Children's Depression Rating Scale-Revised was used to screen for depression among patients with sickle-cell disease. Based on the clinical interview by a child psychiatrist, the actual prevalence of clinical depression was not increased in children with sickle-cell disease compared with those without this chronic illness.

Adolescent↗

Caffeine dependence syndrome. Evidence from case histories and experimental evaluations.

OBJECTIVE: The extent to which daily caffeine use is associated with a substance dependence syndrome similar to that associated with other psychoactive drugs is unknown. The purpose of this study was to assess volunteers who reported problems with their use of caffeine for evidence suggesting a diagnosis of caffeine dependence based on the generic criteria for substance dependence from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). DESIGN: Case-series evaluations. SETTING: An academic research center. PARTICIPANTS: Self-identified adults who believed they were psychologically or physically dependent on caffeine. MAIN OUTCOME MEASURE: Diagnoses made by a psychiatrist using a structured clinical interview that included a section on caffeine dependence based on genetic criteria for DSM-IV substance dependence. SECONDARY OUTCOME MEASURE: Double-blind caffeine-withdrawal evaluation. RESULTS: Ninety-nine subjects were screened for the study, and 16 were identified as having a diagnosis of caffeine dependence. Median daily caffeine intake was 357 mg, and 19% of subjects consumed less than the national (US) daily average of caffeine. Criteria used for making diagnoses (and rates of their prevalence) were as follows: withdrawal (94%), use continued despite knowledge of a persistent or recurrent physical or psychological problem that is likely to have been caused or exacerbated by caffeine use (94%), persistent desire or unsuccessful efforts to cut down or control use (81%), and tolerance (75%). Eleven subjects underwent the double-blind caffeine-withdrawal evaluation portion of the study, and nine (82%) of the 11 showed objective evidence of caffeine withdrawal, including eight of 11 with functional impairment. CONCLUSIONS: These results, together with other experimental evidence, suggest that caffeine exhibits the features of a typical psychoactive substance of dependence. It is valuable to recognize caffeine dependence as a clinical syndrome, since some people feel compelled to continue caffeine use despite desires and recommendations to the contrary.

Adult↗

Partially edited RNAs are intermediates of RNA editing in plant mitochondria.

RNA editing in flowering plant mitochondria addresses several hundred specific C nucleotides in individual sequence contexts in mRNAs and tRNAs. Many of the in vivo steady state RNAs are edited at some sites but not at others. It is still unclear whether such incompletely edited RNAs can either be completed or are aborted. To learn more about the dynamics of the substrate recognition process, we investigated in vitro RNA editing at a locus in the atp4 mRNA where three editing sites are clustered within four nucleotides. A single cis-element of about 20 nucleotides serves in the recognition of at least two sites. Competition with this sequence element suppresses in vitro editing. Surprisingly, unedited and edited competitors are equally effective. Experiments with partially pre-edited substrates indicate that indeed the editing status of a substrate RNA does not affect the binding affinity of the specificity factor(s). RNA molecules in which all editing sites are substituted by either A or G still compete, confirming that editing site recognition can occur independently of the actual editing site. These results show that incompletely edited mRNAs can be substrates for further rounds of RNA editing, resolving a long debated question.

Amino Acid Sequence↗

The Present Behavioural Examination (PBE): the development of an interview to measure current behavioural abnormalities.

Behavioural problems are an important feature of dementia and other neuropsychiatric conditions. This paper describes the development and performance of an investigator-based interview (the PBE) for the detailed assessment of the behaviour of subjects over the preceding four weeks. The interview is designed to be administered to carers. A test-retest reliability study was carried out on the penultimate edition of this interview; and the inter-rater reliability of the final edition was measured. These studies show that the reliability of the PBE is comparable with that of other investigator-based interviews.

Aged↗

[Individual archiving of digital angiocardiograms].

CD-R will be introduced internationally as a standardized individual archive and exchange medium allowing individual solutions for long-term archiving in a catheterization laboratory. The concept of digital archiving on two CD-R includes a long-term primary basic archive and a secondary one edited by intelligent (medical) data reduction (IDR). The basic archive is automatically composed by a background process consisting of unprocessed images or image series and is fundamental for further transfers, storage, presentations and additional studies. The digital working archive comprises a set of images and image series edited by IDR, as well as the results of morphometric studies as well as identification and documentation data. IDR is based upon the elimination of useless and redundant images series, documentation of coronary interventions on one single representative image and on the reduction of relevant images series and physiological data into an ECG-controlled representative cardiac cycle. IDR edits a redundancy-free set of 130 images (diagnostic study) or only 85 images of an interventional study. Two cardiologists and two cardiosurgeons independently studied 24 IDR-edited angiograms and the corresponding unedited digital angiograms and found no significant differences in the diagnostically relevant coronary morphology and left ventricular function. This study shows that an edited angiogram may not only serve for digital archiving but also form the basis for further evaluation or copies.

Angiocardiography↗

ApoB mRNA editing is mediated by a coordinated modulation of multiple apoB mRNA editing enzyme components.

Apolipoprotein (apo)B mRNA editing is accomplished by a large multiprotein complex. How these proteins interact to achieve the precise single-nucleotide change induced by this complex remains unclear. We investigated the relationship between altered apoB mRNA editing and changes in editing enzyme components to evaluate their roles in editing regulation. In the mouse fetal small intestine, we found that the dramatic developmental upregulation of apoB mRNA editing from approximately 3% to 88% begins with decreased levels of inhibitory CUG binding protein 2 (CUGBP2) expression followed by increased levels of apoB mRNA editing enzyme (apobec)-1 and apobec-1 complementation factor (ACF) (4- and 8-fold) and then by decreased levels of the inhibitory components glycine-arginine-tyrosine-rich RNA binding protein (GRY-RBP) and heterogeneous nuclear ribonucleoprotein (hnRNP)-C1 (75% and 56%). In contrast, the expression of KH-type splicing regulatory protein (KSRP), apobec-1 binding protein (ABBP)1, ABBP2, and Bcl-2-associated athanogene 4 (BAG4) were unaltered. In the human intestinal cell line Caco-2, the increase of apoB mRNA editing from approximately 1.7% to approximately 23% was associated with 6- and 3.2-fold increases of apobec-1 and CUGBP2, respectively. In the mouse large intestine, the editing was 48% and had a 2.7-fold relatively greater CUGBP2 level. Caco-2 and the large intestine thus have increased instead of decreased CUGBP2 and a lower level of editing, suggesting that inhibitory CUGBP2 may play a critical role in the magnitude of editing regulation. Short interfering RNA-mediated gene-specific knockdown of CUGBP2, GRY-RBP, and hnRNP-C1 resulted in increased editing in Caco-2 cells, consistent with their known inhibitory function. These data suggest that a coordinated expression of editing components determines the magnitude and specificity of apoB mRNA editing.

Animals↗

RNA editing in an untranslated region of the Ginkgo chloroplast genome.

mRNAs in plant cell organelles can be subject to RNA editing, an RNA processing step altering the identity of single nucleotide residues. In higher plant chloroplasts, editing proceeds by C-to-U conversions at highly specific sites. All known plastid RNA editing sites are located in protein-coding regions and, typically, change the coding properties of the mRNA. To gain more insight into the evolution of editing, we have determined the molecular structure and RNA editing pattern of the psbE operon of the primitive seed plant Ginkgo biloba. We report here the identification of altogether four sites of C-to-U editing, two of which are unique to Ginkgo and have not been found in other species. Surprisingly, one of the sites is located in an intercistronic spacer, thus being the first chloroplast editing site detected outside a protein-coding region. This indicates that the plastid editing machinery can operate also in untranslated regions and without having apparent functional consequences.

Base Sequence↗