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1.  Relationship between Quality and Editorial Leadership of Biomedical Research Journals: A Comparative Study of Italian and UK Journals 
PLoS ONE  2008;3(7):e2512.
The quality of biomedical reporting is guided by statements of several organizations. Although not all journals adhere to these guidelines, those that do demonstrate “editorial leadership” in their author community. To investigate a possible relationship between editorial leadership and journal quality, research journals from two European countries, one Anglophone and one non-Anglophone, were studied and compared. Quality was measured on a panel of bibliometric parameters while editorial leadership was evaluated from journals' instructions to authors.
Methodology/Principal Findings
The study considered all 76 Italian journals indexed in Medline and 76 randomly chosen UK journals; only journals both edited and published in these countries were studied. Compared to UK journals, Italian journals published fewer papers (median, 60 vs. 93; p = 0.006), less often had online archives (43 vs. 74; p<0.001) and had lower median values of impact factor (1.2 vs. 2.7, p<0.001) and SCImago journal rank (0.09 vs. 0.25, p<0.001). Regarding editorial leadership, Italian journals less frequently required manuscripts to specify competing interests (p<0.001), authors' contributions (p = 0.005), funding (p<0.001), informed consent (p<0.001), ethics committee review (p<0.001). No Italian journal adhered to COPE or the CONSORT and QUOROM statements nor required clinical trial registration, while these characteristics were observed in 15%–43% of UK journals (p<0.001). At multiple regression, editorial leadership predicted 37.1%–49.9% of the variance in journal quality defined by citation statistics (p<0.0001); confounding variables inherent to a cross-cultural comparison had a relatively small contribution, explaining an additional 6.2%–13.8% of the variance.
Journals from Italy scored worse for quality and editorial leadership than did their UK counterparts. Editorial leadership predicted quality for the entire set of journals. Greater appreciation of international initiatives to improve biomedical reporting may help low-quality journals achieve higher status.
PMCID: PMC2438474  PMID: 18596938
2.  Peer assessment of journal quality in clinical neurology 
Objective: To explore journal quality as perceived by clinicians and researchers in clinical neurology.
Methods: A survey was conducted from August 2003 to January 2004. Ratings for 41 selected clinical neurology journals were obtained from 254 members of the World Federation of Neurology (1,500 solicited; response rate 17%). Participants provided demographic information and rated each journal on a 5-point Likert scale. Average ratings for all journals were compared with the ISI's journal impact factors. Ratings for each journal were also compared across geographic regions and respondent publication productivity.
Results: The top 5 journals were rated much more highly than the others, with mean ratings greater than 4. Mean journal ratings were highly correlated with journal impact factors (r = 0.67). Most of the top 10 journal ratings were consistent across the subgroups of geographic regions and journal paper productivity. However, significant differences among the different geographical regions and respondent productivity groups were also found for a few journals.
Conclusions: The results provide valuable insight on how neurological experts perceive journals in clinical neurology. These results will likely aid researchers and clinicians in identifying potentially desirable research outlets and indicate journal status for editors. Likewise, biomedical librarians may use these results for serials collection development.
PMCID: PMC1773051  PMID: 17252069
3.  Clinical Practice Guidelines and Consensus Statements in Oncology – An Assessment of Their Methodological Quality 
PLoS ONE  2014;9(10):e110469.
Consensus statements and clinical practice guidelines are widely available for enhancing the care of cancer patients. Despite subtle differences in their definition and purpose, these terms are often used interchangeably. We systematically assessed the methodological quality of consensus statements and clinical practice guidelines published in three commonly read, geographically diverse, cancer-specific journals. Methods Consensus statements and clinical practice guidelines published between January 2005 and September 2013 in Current Oncology, European Journal of Cancer and Journal of Clinical Oncology were evaluated. Each publication was assessed using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) rigour of development and editorial independence domains. For assessment of transparency of document development, 7 additional items were taken from the Institute of Medicine’s standards for practice guidelines and the Journal of Clinical Oncology guidelines for authors of guidance documents.
Consensus statements and clinical practice guidelines published between January 2005 and September 2013 in Current Oncology, European Journal of Cancer and Journal of Clinical Oncology were evaluated. Each publication was assessed using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) rigour of development and editorial independence domains. For assessment of transparency of document development, 7 additional items were taken from the Institute of Medicine's standards for practice guidelines and the Journal of Clinical Oncology guidelines for authors of guidance documents.
Thirty-four consensus statements and 67 clinical practice guidelines were evaluated. The rigour of development score for consensus statements over the three journals was 32% lower than that of clinical practice guidelines. The editorial independence score was 15% lower for consensus statements than clinical practice guidelines. One journal scored consistently lower than the others over both domains. No journals adhered to all the items related to the transparency of document development. One journal’s consensus statements endorsed a product made by the sponsoring pharmaceutical company in 64% of cases.
Guidance documents are an essential part of oncology care and should be subjected to a rigorous and validated development process. Consensus statements had lower methodological quality than clinical practice guidelines using AGREE II. At a minimum, journals should ensure that that all consensus statements and clinical practice guidelines adhere to AGREE II criteria. Journals should consider explicitly requiring guidelines to declare pharmaceutical company sponsorship and to identify the sponsor’s product to enhance transparency.
PMCID: PMC4201546  PMID: 25329669
4.  Using text mining to link journal articles to neuroanatomical databases 
The Journal of comparative neurology  2012;520(8):10.1002/cne.23012.
The electronic linking of neuroscience information, including data embedded in the primary literature, would permit powerful queries and analyses driven by structured databases. This task would be facilitated by automated procedures which can identify biological concepts in journals. Here we apply an approach for automatically mapping formal identifiers of neuroanatomical regions to text found in journal abstracts, and apply it to a large body of abstracts from the Journal of Comparative Neurology (JCN). The analyses yield over one hundred thousand brain region mentions which we map to 8,225 brain region concepts in multiple organisms. Based on the analysis of a manually annotated corpus, we estimate mentions are mapped at 95% precision and 63% recall. Our results provide insights into the patterns of publication on brain regions and species of study in the Journal, but also point to important challenges in the standardization of neuroanatomical nomenclatures. We find that many terms in the formal terminologies never appear in a JCN abstract, while conversely, many terms authors use are not reflected in the terminologies. To improve the terminologies we deposited 136 unrecognized brain regions into the Neuroscience Lexicon (NeuroLex). The training data, terminologies, normalizations, evaluations and annotated journal abstracts are freely available at
PMCID: PMC3812935  PMID: 22120205
neuroinformatics; brain mapping; homology; brain reference system; brain atlases
6.  Association of Human Herpesvirus-6B with Mesial Temporal Lobe Epilepsy 
PLoS Medicine  2007;4(5):e180.
Human herpesvirus-6 (HHV-6) is a β-herpesvirus with 90% seroprevalence that infects and establishes latency in the central nervous system. Two HHV-6 variants are known: HHV-6A and HHV-6B. Active infection or reactivation of HHV-6 in the brain is associated with neurological disorders, including epilepsy, encephalitis, and multiple sclerosis. In a preliminary study, we found HHV-6B DNA in resected brain tissue from patients with mesial temporal lobe epilepsy (MTLE) and have localized viral antigen to glial fibrillary acidic protein (GFAP)–positive glia in the same brain sections. We sought, first, to determine the extent of HHV-6 infection in brain material resected from MTLE and non-MTLE patients; and second, to establish in vitro primary astrocyte cultures from freshly resected brain material and determine expression of glutamate transporters.
Methods and Findings
HHV-6B infection in astrocytes and brain specimens was investigated in resected brain material from MTLE and non-MTLE patients using PCR and immunofluorescence. HHV-6B viral DNA was detected by TaqMan PCR in brain resections from 11 of 16 (69%) additional patients with MTLE and from zero of seven (0%) additional patients without MTLE. All brain regions that tested positive by HHV-6B variant-specific TaqMan PCR were positive for viral DNA by nested PCR. Primary astrocytes were isolated and cultured from seven epilepsy brain resections and astrocyte purity was defined by GFAP reactivity. HHV-6 gp116/54/64 antigen was detected in primary cultured GFAP-positive astrocytes from resected tissue that was HHV-6 DNA positive—the first demonstration of an ex vivo HHV-6–infected astrocyte culture isolated from HHV-6–positive brain material. Previous work has shown that MTLE is related to glutamate transporter dysfunction. We infected astrocyte cultures in vitro with HHV-6 and found a marked decrease in glutamate transporter EAAT-2 expression.
Overall, we have now detected HHV-6B in 15 of 24 patients with mesial temporal sclerosis/MTLE, in contrast to zero of 14 with other syndromes. Our results suggest a potential etiology and pathogenic mechanism for MTLE.
Steve Jacobson and colleagues report finding human herpesvirus-6B DNA in brain resections from 11 of 16 patients with mesial temporal lobe epilepsy, strengthening the evidence for a role for this virus in this condition.
Editors' Summary
Epilepsy is a common brain disorder caused by a sudden, excessive electrical discharge in a cluster of neurons—the cells that transmit electrical messages between the body and the brain. Its symptoms depend on which part of the brain is affected by this electrical firestorm and how far the disturbance spreads. When only part of the brain is affected (a partial seizure or fit), patients may see or smell strange things, recall forgotten memories, or have part of their body jerk uncontrollably. When the electrical disturbance spreads across the whole brain (a generalized seizure), there may be loss of consciousness and/or the whole body may become rigid or jerk. Epilepsy is usually controlled with anti-epileptic drugs or, in very severe focal cases, surgery to the area of the brain where the seizure starts. Although head injuries or brain tumors can trigger epilepsy, the cause of most cases of epilepsy is unknown.
Why Was This Study Done?
Knowing what causes epilepsy might lead to better treatments for it. One possibility is that infections trigger epilepsy. The researchers in this study asked whether infections with human herpesvirus 6B (HHV-6B) are associated with a common type of epilepsy called mesial temporal lobe epilepsy (MTLE). Patients with MTLE often have extensive scarring in the hippocampus, a brain region responsible for memory that lies deep within a bigger region called the temporal lobe. Hippocampal scarring and MTLE are associated with a history of fever-induced fits, and HHV-6B infection can cause such fits in young children. Most people become infected with HHV-6B (or the closely related HHV-6A) early in life. The virus then remains latent for years within the brain and elsewhere. Given these facts and a previous investigation that showed that brain tissue from several patients with MTLE contained HHV-6B, the researchers reasoned that it was worth investigating HHV-6B as a cause of MTLE.
What Did the Researchers Do and Find?
The researchers first looked for HHV-6B DNA in brain tissue surgically removed from patients with MTLE or another type of epilepsy. Tissue from 11 of 16 patients with MTLE (but from 0 of 7 control patients) contained HHV-6B DNA. When the researchers grew astrocytes (a type of brain cell) from some of these samples, only those from HHV-6B DNA-positive samples from patients with MTLE expressed an HHV-6-specific protein. Next, the researchers investigated in detail a patient with MTLE who had four sequential operations to control his epilepsy. This patient's hippocampus, which was removed in his first operation, contained a higher level of HHV-6B DNA than the tissues removed in later operations. After the fourth operation (which removed half of his brain and cured his epilepsy), astrocytes grown from the temporal lobe and the frontal/parietal lobe (a brain region next to the temporal lobe) but not the frontal and occipital lobes contained HHV-6B DNA and expressed a viral protein. The researchers also measured the production by these various astrocytes of a substance that moves glutamate (an amino acid that also acts as a neurotransmitter) across cell membranes—MTLE has been associated with a glutamate transporter deficiency. Consistent with this, astrocytes from the patient's temporal lobe made no glutamate transporter mRNA (mRNA is an essential precursor for protein to be produced). Finally, infection of astrocytes isolated from a patient without MTLE with HHV-6B greatly reduced expression of glutamate transporter in these astrocytes.
What Do These Findings Mean?
These findings, together with those from the previous study, reveal that nearly two-thirds of patients with MTLE (but no patients with other forms of epilepsy) have an active HHV-6B infection in the brain region where their epilepsy originates. Overall, they provide strong support for the idea that HHV-6B infections might cause MTLE, particularly given the results obtained from the patient whose condition only improved after multiple brain operations had removed all the virally infected material. Furthermore, the demonstration that HHV-6B infection reduces glutamate transporter expression in astrocytes suggests that HHV-6B infection might cause astrocyte dysfunction. This dysfunction could lead to injury of the sensitive neurons in the hippocampus and trigger MTLE. Additional patients now need to be studied both to confirm the association between HHV-6B infection and MTLE and to discover exactly how this virus triggers epilepsy.
Additional Information.
Please access these Web sites via the online version of this summary at
MedlinePlus encyclopedia page on epilepsy (in English and Spanish)
World Health Organization fact sheet on epilepsy (in English, French, Spanish, Russian, Arabic, and Chinese)
US National Institute for Neurological Disorders and Stroke epilepsy information page (in English and Spanish)
UK National Health Service Direct information for patients on epilepsy (in several languages)
Neuroscience for kids, an educational Web site prepared by Eric Chudler (University of Washington, Seattle, Washington, United States), who also has a site that includes information on epilepsy and a list of links to epilepsy organizations (mainly in English but some sections in other languages as well)
A short scientific article on human herpes virus 6 in the journal Emerging Infectious Diseases
PMCID: PMC1880851  PMID: 17535102
7.  Integrative Approach to Quality Assessment of Medical Journals Using Impact Factor, Eigenfactor, and Article Influence Scores 
PLoS ONE  2010;5(4):e10204.
Impact factor (IF) is a commonly used surrogate for assessing the scientific quality of journals and articles. There is growing discontent in the medical community with the use of this quality assessment tool because of its many inherent limitations. To help address such concerns, Eigenfactor (ES) and Article Influence scores (AIS) have been devised to assess scientific impact of journals. The principal aim was to compare the temporal trends in IF, ES, and AIS on the rank order of leading medical journals over time.
The 2001 to 2008 IF, ES, AIS, and number of citable items (CI) of 35 leading medical journals were collected from the Institute of Scientific Information (ISI) and the databases. The journals were ranked based on the published 2008 ES, AIS, and IF scores. Temporal score trends and variations were analyzed.
In general, the AIS and IF values provided similar rank orders. Using ES values resulted in large changes in the rank orders with higher ranking being assigned to journals that publish a large volume of articles. Since 2001, the IF and AIS of most journals increased significantly; however the ES increased in only 51% of the journals in the analysis. Conversely, 26% of journals experienced a downward trend in their ES, while the rest experienced no significant changes (23%). This discordance between temporal trends in IF and ES was largely driven by temporal changes in the number of CI published by the journals.
The rank order of medical journals changes depending on whether IF, AIS or ES is used. All of these metrics are sensitive to the number of citable items published by journals. Consumers should thus consider all of these metrics rather than just IF alone in assessing the influence and importance of medical journals in their respective disciplines.
PMCID: PMC2855371  PMID: 20419115
8.  5-Chloroindole: a potent allosteric modulator of the 5-HT3 receptor 
British Journal of Pharmacology  2013;169(6):1228-1238.
Background and Purpose
The 5-HT3 receptor is a ligand-gated ion channel that is modulated allosterically by various compounds including colchicine, alcohols and volatile anaesthetics. However the positive allosteric modulators (PAMs) identified to date have low affinity, which hinders investigation because of non-selective effects at pharmacologically active concentrations. The present study identifies 5-chloroindole (Cl-indole) as a potent PAM of the 5-HT3 receptor.
Experimental Approach
5-HT3 receptor function was assessed by the increase in intracellular calcium and single-cell electrophysiological recordings in HEK293 cells stably expressing the h5-HT3A receptor and also the mouse native 5-HT3 receptor that increases neuronal contraction of bladder smooth muscle.
Key Results
Cl-indole (1–100 μM) potentiated agonist (5-HT) and particularly partial agonist [(S)-zacopride, DDP733, RR210, quipazine, dopamine, 2-methyl-5-HT, SR57227A, meta chlorophenyl biguanide] induced h5-HT3A receptor-mediated responses. This effect of Cl-indole was also apparent at the mouse native 5-HT3 receptor. Radioligand-binding studies identified that Cl-indole induced a small (∼twofold) increase in the apparent affinity of 5-HT for the h5-HT3A receptor, whereas there was no effect upon the affinity of the antagonist, tropisetron. Cl-indole was able to reactivate desensitized 5-HT3 receptors. In contrast to its effect on the 5-HT3 receptor, Cl-indole did not alter human nicotinic α7 receptor responses.
Conclusions and Implications
The present study identifies Cl-indole as a relatively potent and selective PAM of the 5-HT3 receptor; such compounds will aid investigation of the molecular basis for allosteric modulation of the 5-HT3 receptor and may assist the discovery of novel therapeutic drugs targeting this receptor.
Linked Articles
Recent reviews on allosteric modulation can be found at:
Kenakin, T (2013). New concepts in pharmacological efficacy at 7TM receptors: IUPHAR Review 2. British Journal of Pharmacology 168: 554–575. doi: 10.1111/j.1476-5381.2012.02223.x
Roche D, Gil D and Giraldo J (2013). Mechanistic analysis of the function of agonists and allosteric modulators: reconciling two-state and operational models. British Journal of Pharmacology 169: 1189–1202. doi: 10.1111/bph.12231
PMCID: PMC3831704  PMID: 23594147
5-HT3 receptor; ligand-gated ion channel; allosteric modulation
9.  Comparing the Areas of Interest in the Field of Functional Gastrointestinal Disorder and Neurogastroenterology and Motility Between the East and the West 
There is a paucity of studies that compare the differences in published articles submitted from the East and the West in the area of neurogastroenterology and motility (NM). To compare the article topics from the East and the West which have been published, 5 Western (Gastroenterology, Gut, American Journal of Gastroenterology, American Journal of Physiology-Gastrointestinal and Liver Physiology, and Neurogastroenterology and Motility) and 3 Eastern gastrointestinal journals (Journal of Gastroenterology, Journal of Gastroenterology and Hepatology, and Journal of Neurogastroenterology and Motility) were selected based on the impact factor. Published papers were classified into 12 categories and 60 subcategories. The titles and abstracts of review articles, original articles, and meta-analyses from these journals were reviewed for the last 2 years (2013–2014). In case of Journal of Neurogastroenterology and Motility which is published quarterly, this search was performed for 5 years (2010–2014). Of the total 2656 reviewed articles, 842 (260 from the East and 582 from the West) were classified into the category of NM. The most frequently published papers from the Western researchers were categorized as brain-gut interaction, visceral hypersensitivity, and irritable bowel syndrome, whereas those from the Eastern researchers were categorized as gastroesophageal reflux disease, functional dyspepsia, and irritable bowel syndrome. This difference between the East and the West is not just due to the journal itself, but it also depends on the author’s affiliation and their ability to perform high quality research in the area of the NM. These data provide evidence for the research trend and give valuable information to the researchers for determining subjects for the study and for selecting proper journals for publishing their studies.
PMCID: PMC4622132  PMID: 26351091
East; Journal; Motility; Neurogastroenterology; West
10.  The Role of Abcb5 Alleles in Susceptibility to Haloperidol-Induced Toxicity in Mice and Humans 
PLoS Medicine  2015;12(2):e1001782.
We know very little about the genetic factors affecting susceptibility to drug-induced central nervous system (CNS) toxicities, and this has limited our ability to optimally utilize existing drugs or to develop new drugs for CNS disorders. For example, haloperidol is a potent dopamine antagonist that is used to treat psychotic disorders, but 50% of treated patients develop characteristic extrapyramidal symptoms caused by haloperidol-induced toxicity (HIT), which limits its clinical utility. We do not have any information about the genetic factors affecting this drug-induced toxicity. HIT in humans is directly mirrored in a murine genetic model, where inbred mouse strains are differentially susceptible to HIT. Therefore, we genetically analyzed this murine model and performed a translational human genetic association study.
Methods and Findings
A whole genome SNP database and computational genetic mapping were used to analyze the murine genetic model of HIT. Guided by the mouse genetic analysis, we demonstrate that genetic variation within an ABC-drug efflux transporter (Abcb5) affected susceptibility to HIT. In situ hybridization results reveal that Abcb5 is expressed in brain capillaries, and by cerebellar Purkinje cells. We also analyzed chromosome substitution strains, imaged haloperidol abundance in brain tissue sections and directly measured haloperidol (and its metabolite) levels in brain, and characterized Abcb5 knockout mice. Our results demonstrate that Abcb5 is part of the blood-brain barrier; it affects susceptibility to HIT by altering the brain concentration of haloperidol. Moreover, a genetic association study in a haloperidol-treated human cohort indicates that human ABCB5 alleles had a time-dependent effect on susceptibility to individual and combined measures of HIT. Abcb5 alleles are pharmacogenetic factors that affect susceptibility to HIT, but it is likely that additional pharmacogenetic susceptibility factors will be discovered.
ABCB5 alleles alter susceptibility to HIT in mouse and humans. This discovery leads to a new model that (at least in part) explains inter-individual differences in susceptibility to a drug-induced CNS toxicity.
Gary Peltz and colleagues examine the role of ABCB5 alleles in haloperidol-induced toxicity in a murine genetic model and humans treated with haloperidol.
Editors' Summary
The brain is the control center of the human body. This complex organ controls thoughts, memory, speech, and movement, it is the seat of intelligence, and it regulates the function of many organs. The brain comprises many different parts, all of which work together but all of which have their own special functions. For example, the forebrain is involved in intellectual activities such as thinking whereas the hindbrain controls the body’s vital functions and movements. Messages are passed between the various regions of the brain and to other parts of the body by specialized cells called neurons, which release and receive signal molecules known as neurotransmitters. Like all the organs in the body, blood vessels supply the brain with the oxygen, water, and nutrients it needs to function. Importantly, however, the brain is protected from infectious agents and other potentially dangerous substances circulating in the blood by the “blood-brain barrier,” a highly selective permeability barrier that is formed by the cells lining the fine blood vessels (capillaries) within the brain.
Why Was This Study Done?
Although drugs have been developed to treat various brain disorders, more active and less toxic drugs are needed to improve the treatment of many if not most of these conditions. Unfortunately, relatively little is known about how the blood-brain barrier regulates the entry of drugs into the brain or about the genetic factors that affect the brain’s susceptibility to drug-induced toxicities. It is not known, for example, why about half of patients given haloperidol—a drug used to treat psychotic disorders (conditions that affect how people think, feel, or behave)—develop tremors and other symptoms caused by alterations in the brain region that controls voluntary movements. Here, to improve our understanding of how drugs enter the brain and impact its function, the researchers investigate the genetic factors that affect haloperidol-induced toxicity by genetically analyzing several inbred mouse strains (every individual in an inbred mouse strain is genetically identical) with different susceptibilities to haloperidol-induced toxicity and by undertaking a human genetic association study (a study that looks for non-chance associations between specific traits and genetic variants).
What Did the Researchers Do and Find?
The researchers used a database of genetic variants called single nucleotide polymorphisms (SNPs) and a computational genetic mapping approach to show first that variations within the gene encoding Abcb5 affected susceptibility to haloperidol-induced toxicity (indicated by changes in the length of time taken by mice to move their paws when placed on an inclined wire-mesh screen) among inbred mouse strains. Abcb5 is an ATP-binding cassette transporter, a type of protein that moves molecules across cell membranes. The researchers next showed that Abcb5 is expressed in brain capillaries, which is the location of the blood-brain barrier. Abcb5 was also expressed in cerebellar Purkinje cells, which help to control motor (intentional) movements. They also measured the measured the effect of haloperidol and the haloperidol concentration in brain tissue sections in mice that were genetically engineered to make no Abcb5 (Abcb5 knockout mice). Finally, the researchers investigated whether specific alleles (alternative versions) of ABCB5 are associated with haloperidol-induced toxicity in people. Among a group of 85 patients treated with haloperidol for a psychotic illness, one specific ABCB5 allele was associated with haloperidol-induced toxicity during the first few days of treatment.
What Do These Findings Mean?
These findings indicate that Abcb5 is a component of the blood-brain barrier in mice and suggest that genetic variants in the gene encoding this protein underlie, at least in part, the differences in susceptibility to haloperidol-induced toxicity seen among inbred mice strains. Moreover, the human genetic association study indicates that a specific ABCB5 allele also affects the susceptibility of people to haloperidol-induced toxicity. The researchers note that other ABCB5 alleles or other genetic factors that affect haloperidol-induced toxicity in people might emerge if larger groups of patients were studied. However, based on their findings, the researchers propose a new model for the genetic mechanisms that underlie inter-individual and cell type-specific differences in susceptibility to haloperidol-induced brain toxicity. If confirmed in future studies, this model might facilitate the development of more effective and less toxic drugs to treat a range of brain disorders.
Additional Information
Please access these websites via the online version of this summary at
The US National Institute of Neurological Disorders and Stroke provides information about a wide range of brain diseases (in English and Spanish); its fact sheet “Brain Basics: Know Your Brain” is a simple introduction to the human brain; its “Blueprint Neurotherapeutics Network” was established to develop new drugs for disorders affecting the brain and other parts of the nervous system
MedlinePlus provides links to additional resources about brain diseases and their treatment (in English and Spanish)
Wikipedia provides information about haloperidol, about ATP-binding cassette transporters and about genetic association (note that Wikipedia is a free online encyclopedia that anyone can edit; available in several languages)
PMCID: PMC4315575  PMID: 25647612
11.  Mapping the literature of speech-language pathology. 
The purpose of this study, part of the Medical Library Association (MLA) Nursing and Allied Health Resources Section's project to map the allied health literature, is to identify the core journals in the field of speech-language pathology and to identify indexing and abstracting services that provide access to these journals. Four representative speech-language pathology journals were selected and subjected to citation analysis to determine which journals were cited and how many times each was cited. Bradford's Law of Scattering was applied to the resulting list of journals to identify the core journals of this discipline. Six indexing and abstracting services were selected and scanned to determine coverage for the speech-language pathology core journals. The core journals received broad coverage in the health sciences and social sciences indexing and abstracting databases surveyed, although there was no one database that provided complete coverage of all core journals. The full Current Contents database provides the most extensive coverage of core journals. For individuals without access to the complete Current Contents database, a combined search of both MEDLINE and PsycINFO provides very comprehensive coverage of core journals.
PMCID: PMC226275  PMID: 9285132
12.  Decreased Brain Volume in Adults with Childhood Lead Exposure 
PLoS Medicine  2008;5(5):e112.
Although environmental lead exposure is associated with significant deficits in cognition, executive functions, social behaviors, and motor abilities, the neuroanatomical basis for these impairments remains poorly understood. In this study, we examined the relationship between childhood lead exposure and adult brain volume using magnetic resonance imaging (MRI). We also explored how volume changes correlate with historic neuropsychological assessments.
Methods and Findings
Volumetric analyses of whole brain MRI data revealed significant decreases in brain volume associated with childhood blood lead concentrations. Using conservative, minimum contiguous cluster size and statistical criteria (700 voxels, unadjusted p < 0.001), approximately 1.2% of the total gray matter was significantly and inversely associated with mean childhood blood lead concentration. The most affected regions included frontal gray matter, specifically the anterior cingulate cortex (ACC). Areas of lead-associated gray matter volume loss were much larger and more significant in men than women. We found that fine motor factor scores positively correlated with gray matter volume in the cerebellar hemispheres; adding blood lead concentrations as a variable to the model attenuated this correlation.
Childhood lead exposure is associated with region-specific reductions in adult gray matter volume. Affected regions include the portions of the prefrontal cortex and ACC responsible for executive functions, mood regulation, and decision-making. These neuroanatomical findings were more pronounced for males, suggesting that lead-related atrophic changes have a disparate impact across sexes. This analysis suggests that adverse cognitive and behavioral outcomes may be related to lead's effect on brain development producing persistent alterations in structure. Using a simple model, we found that blood lead concentration mediates brain volume and fine motor function.
Using magnetic resonance imaging to assess brain volumes, Kim Cecil and colleagues find that inner-city children with higher blood lead levels showed regions of decreased gray matter as adults.
Editors' Summary
Lead is a highly toxic metal that is present throughout the environment because of various human activities. In particular, for many years, large amounts of lead were used in paint, in solder for water pipes, in gasoline, and in ceramic glazes. But, as the harmful health effects of lead have become clear, its use in these and other products has been gradually phased out. Breathing air, drinking water, or eating food that contains lead can damage almost every organ in the human body. The organ that is most sensitive to lead exposure is the brain, and children's brains are particularly vulnerable because they are still developing. Children who swallow large amounts of lead can develop widespread brain damage that causes convulsions and sometimes death. Children who are repeatedly exposed to low to moderate amounts of lead (e.g., through accidentally swallowing residues of old lead paint or contaminated soil) can develop learning or behavioral problems.
Why Was This Study Done?
Lead exposure has been linked with various types of brain damage. These include problems with thinking (cognition); difficulties with organizing actions, decisions, and behaviors (executive functions); abnormal social behavior (including aggression); and difficulties in coordinating fine movements, such as picking up small objects (fine motor control). However, we know little about how lead damages the brain in this way and little about which brain regions are affected by exposure to low to moderate levels of lead during childhood. In this study, the researchers wanted to test the possibility that childhood lead exposure might lead to shrinking (“volume loss”) parts of the brain, particularly the parts that are crucial to cognition and behavior. They therefore studied the relationship between childhood lead exposure and adult brain volume. They also explored whether there is a relationship between brain volume and measures of brain functioning, such as fine motor control, memory, and learning assessed during adolescence.
What Did the Researchers Do and Find?
Between 1979 and 1984, the researchers recruited babies born in poor areas of Cincinnati, where there were many old, lead-contaminated houses, into the Cincinnati Lead Study. They measured their blood lead levels regularly from birth until they were 78 months old and calculated each child's average blood lead level over this period. They then used brain scans (known as magnetic resonance imaging, or MRI) to measure the brain volumes of the participants when they were 19–24 years old. The researchers found that exposure to lead as a child was linked with brain volume loss in adulthood, particularly in men. There was a “dose-response” effect—in other words, the greatest brain volume loss was seen in participants with the greatest lead exposure in childhood. The brain volume loss was most noticeable in a part of the brain called the prefrontal cortex—especially a region called the “anterior cingulate cortex.” When they examined the relationship between brain volume and measures of brain functioning, they found a link between brain volume and fine motor control, but not with the other measures.
What Do These Findings Mean?
These findings indicate that childhood lead exposure is associated with brain volume loss in adults, in specific regions of the brain. These brain regions are responsible for executive functions, regulating behavior, and fine motor control. Lead exposure has a larger effect on brain volumes in men than in women, which might help to explain the higher incidence of antisocial behaviors among men than women. Overall, these findings may explain why children and adults who have a history of lead exposure have behavioral and other problems, and support ongoing efforts to reduce childhood lead exposure in the US and other countries.
Additional Information.
Please access these Web sites via the online version of this summary at
A PLoS Medicine Perspective article by David Bellinger further discusses this study and a related paper on child exposure to lead and criminal arrests in adulthood
Toxtown, an interactive site from the US National Library of Medicine, provides information on environmental health concerns including exposure to lead (in English and Spanish)
The US Environmental Protection Agency provides information on lead in paint, dust, and soil and on protecting children from lead poisoning (in English and Spanish)
Medline Plus and the US National Library of Medicine Specialized Information Services provide lists of links to information on lead and human health (in English and Spanish)
The US Centers for Disease Control and Prevention provides information about its Childhood Lead Poisoning Prevention Program
The UK Health Protection Agency also provides information about lead and its health hazards
PMCID: PMC2689675  PMID: 18507499
13.  Traumatic brain injury related research in India: An overview of published literature 
This paper provides an overview of publications by Indian researchers on traumatic brain injury between 1966 and 2014, to set up a platform for evaluating and synthesizing the results and findings from brain injury research in India.
Materials and Methods:
All published articles from India related to brain injury since 1966 to 2014 were retrieved from PubMed using the search for (“craniocerebral trauma”[MeSH Terms] OR (“craniocerebral”[All Fields] AND “trauma”[All Fields]) OR “craniocerebral trauma”[All Fields] OR (“head”[All Fields] AND “injury”[All Fields]) OR “head injury”[All Fields]) AND (“India”[MeSH Terms] OR “India”[All Fields]) A data base for variables like study type/category, year of publication, place of study institutes and departments to which the corresponding author belonged or where the study was conducted and the journal of publication was developed in FileMaker Pro 13 Advanced® software. Frequencies and percentages was obtained using R statistics software.
A total of 624 original research articles from India were reviewed. There was a substantial increase in the number of publications from 2006 (175) to 2014 (213). Eighty percent of studies were primary clinical observational type. Only 1.6% of studies were on animal experiments. Original research articles were about 55.8%. One fourth of the studies are prospective in nature. Researchers from 46 medical departments have been involved in publishing papers on traumatic brain injury. Among these, the neurosurgery department has published highest number of publications (262), followed by the forensic medicine (32) and the neurology (21). Many institutes from 22 states have contributed in brain injury research. Delhi alone had published nearly one-fourth (23%) of papers. Eleven states had published papers in collaboration with other countries. Papers were published both in national and international journals. Neurology India had published 20.6% of papers.
There is rapid increase in publications since last decade with multi departmental integration and international collaborations. However with existing brain injury resources in our country much more research work at both basic and clinical level should be encouraged.
PMCID: PMC4901829  PMID: 27308253
Articles; basic; brain injury; clinical; India; departments; epidemiological; institutes; journal; neurosurgery; neurotrauma; PubMed
14.  Assessment of the Quality of Reporting of Randomised Controlled Trials in Otorhinolaryngologic Literature – Adherence to the CONSORT Statement 
PLoS ONE  2015;10(3):e0122328.
Randomised Controlled Trials (RCTs) are the preferred study design when comparing therapeutical interventions in medicine. To improve clarity, consistency and transparency of reporting RCTs, the Consolidated Standards of Reporting Trials (CONSORT) statement was developed.
(1) To assess the quality of reports and abstracts of RCTs in otorhinolaryngologic literature by using CONSORT checklists, (2) to compare the quality of reports and abstracts of otorhinolaryngologic RCTs between the top 5 general medical journals and top 5 otorhinolaryngologic journals, and (3) to formulate recommendations for authors and editors of otorhinolaryngologic (‘ENT’) journals.
Based on 2012 ISI Web of Knowledge impact factors, the top 5 general medical and ENT journals were selected. On 25 June 2014, using a highly sensitive Cochrane RCT filter and ENT filter, possibly relevant articles since January 1st, 2010 were retrieved and relevant RCTs were selected. We assessed how many CONSORT items were reported adequately in reports and abstracts and compared the two journal types.
Otorhinolaryngologic RCTs (n = 15) published in general medical journals reported a mean of 92.1% (95% confidence interval: 89.5%–94.7%) of CONSORT items adequately, whereas RCTs (n = 18) published in ENT journals reported a mean of 71.8% (66.7%–76.8%) adequately (p < 0.001). For abstracts, means of 70.0% (63.7%–76.3%) and 32.3% (26.6–38.0%) were found respectively (p < 0.001). Large differences for specific items exist between the two journal types.
The quality of reporting of RCTs in otorhinolaryngologic journals is suboptimal. RCTs published in general medical journals have a higher quality of reporting than RCTs published in ENT journals. We recommend authors to report their trial according to the CONSORT Statement and advise editors to endorse the CONSORT Statement and implement the CONSORT Statement in the editorial process to ensure more adequate reporting of RCTs and their abstracts.
PMCID: PMC4368673  PMID: 25793517
15.  Brain Connectivity: A New Journal Emerges 
Brain Connectivity  2011;1(1):1-2.
PMCID: PMC3621355  PMID: 22432950
16.  Deep Brain Stimulation in the Media: Over-Optimistic Portrayals Call for a New Strategy Involving Journalists and Scientists in Ethical Debates 
Deep brain stimulation (DBS) is optimistically portrayed in contemporary media. This already happened with psychosurgery during the first half of the twentieth century. The tendency of popular media to hype the benefits of DBS therapies, without equally highlighting risks, fosters public expectations also due to the lack of ethical analysis in the scientific literature. Media are not expected (and often not prepared) to raise the ethical issues which remain unaddressed by the scientific community. To obtain a more objective portrayal of DBS in the media, a deeper collaboration between the science community and journalists, and particularly specialized ones, must be promoted. Access to databases and articles, directly or through science media centers, has also been proven effective in increasing the quality of reporting. This article has three main objectives. Firstly, to explore the past media coverage of leukotomy, and to examine its widespread acceptance and the neglect of ethical issues in its depiction. Secondly, to describe how current enthusiastic coverage of DBS causes excessive optimism and neglect of ethical issues in patients. Thirdly, to discuss communication models and strategies to enhance media and science responsibility.
PMCID: PMC3095813  PMID: 21617733
deep brain stimulation; science journalism; mass media; neurosurgery; neuroethics
17.  What Medical Journal Editing Means to Me 
Mens Sana Monographs  2008;6(1):237-243.
Papers in medical journals are often difficult to understand and tedious to read. An editor's first loyalty should be to readers, by prioritising readability over merely producing a repository of data for the scientific community generally.
The web now provides infinite repository space so there is even less excuse for journals to be unreadable. I give examples of how I attempted to improve one journal, despite external pressures and regardless of how it might affect the Impact Factor. As a postscript I outline increasing involvement in promoting honesty and integrity in publishing through the auspices of the Committee on Publication Ethics (COPE).
PMCID: PMC3190553  PMID: 22013361
Journals, Editors; Research Ethics; Readers, Medical Journal Editing; Impact factor; Committee on Publication Ethics (COPE); Budding editors
18.  Effectiveness of Journal Ranking Schemes as a Tool for Locating Information 
PLoS ONE  2008;3(2):e1683.
The rise of electronic publishing [1], preprint archives, blogs, and wikis is raising concerns among publishers, editors, and scientists about the present day relevance of academic journals and traditional peer review [2]. These concerns are especially fuelled by the ability of search engines to automatically identify and sort information [1]. It appears that academic journals can only remain relevant if acceptance of research for publication within a journal allows readers to infer immediate, reliable information on the value of that research.
Methodology/Principal Findings
Here, we systematically evaluate the effectiveness of journals, through the work of editors and reviewers, at evaluating unpublished research. We find that the distribution of the number of citations to a paper published in a given journal in a specific year converges to a steady state after a journal-specific transient time, and demonstrate that in the steady state the logarithm of the number of citations has a journal-specific typical value. We then develop a model for the asymptotic number of citations accrued by papers published in a journal that closely matches the data.
Our model enables us to quantify both the typical impact and the range of impacts of papers published in a journal. Finally, we propose a journal-ranking scheme that maximizes the efficiency of locating high impact research.
PMCID: PMC2244807  PMID: 18301760
19.  Epidemiological Pathology of Dementia: Attributable-Risks at Death in the Medical Research Council Cognitive Function and Ageing Study 
PLoS Medicine  2009;6(11):e1000180.
Researchers from the Medical Research Council Cognitive Function and Ageing Neuropathology Study carry out an analysis of brain pathologies contributing to dementia, within a cohort of elderly individuals in the UK who agreed to brain donation.
Dementia drug development aims to modulate pathological processes that cause clinical syndromes. Population data (epidemiological neuropathology) will help to model and predict the potential impact of such therapies on dementia burden in older people. Presently this can only be explored through post mortem findings. We report the attributable risks (ARs) for dementia at death for common age-related degenerative and vascular pathologies, and other factors, in the MRC Cognitive Function and Ageing Study (MRC CFAS).
Methods and Findings
A multicentre, prospective, longitudinal study of older people in the UK was linked to a brain donation programme. Neuropathology of 456 consecutive brain donations assessed degenerative and vascular pathologies. Logistic regression modelling, with bootstrapping and sensitivity analyses, was used to estimate AR at death for dementia for specific pathologies and other factors. The main contributors to AR at death for dementia in MRC CFAS were age (18%), small brain (12%), neocortical neuritic plaques (8%) and neurofibrillary tangles (11%), small vessel disease (12%), multiple vascular pathologies (9%), and hippocampal atrophy (10%). Other significant factors include cerebral amyloid angiopathy (7%) and Lewy bodies (3%).
Such AR estimates cannot be derived from the living population; rather they estimate the relative contribution of specific pathologies to dementia at death. We found that multiple pathologies determine the overall burden of dementia. The impact of therapy targeted to a specific pathology may be profound when the dementia is relatively “pure,” but may be less impressive for the majority with mixed disease, and in terms of the population. These data justify a range of strategies, and combination therapies, to combat the degenerative and vascular determinants of cognitive decline and dementia.
Please see later in the article for the Editors' Summary
Editors' Summary
Losing one's belongings and forgetting people's names is often a normal part of aging. But increasing forgetfulness can also be a sign of dementia, a group of symptoms caused by several disorders that affect the structure of the brain. The commonest form of dementia is Alzheimer disease. In this, protein clumps called plaques and neurofibrillary tangles form in the brain and cause its degeneration. Vascular dementia, in which problems with blood circulation deprive parts of the brain of oxygen, is also common. People with dementia have problems with two or more “cognitive” functions—thinking, language, memory, understanding, and judgment. As the disease progresses, they gradually lose their ability to deal with normal daily activities until they need total care, their personality often changes, and they may become agitated or aggressive. Dementia is rare before the age of 65 years but about a quarter of people over 85 years old have dementia. Because more people live to a ripe old age these days, the number of people with dementia is increasing. According to the latest estimates, about 35 million people now have dementia and by 2050, 115 million may have the disorder.
Why Was This Study Done?
There is no cure for dementia but many drugs designed to modulate specific abnormal (pathological) changes in the brain that can cause the symptoms of dementia are being developed. To assess the likely impact of these potentially expensive new therapies, experts need to know what proportion of dementia is associated with each type of brain pathology. Although some brain changes can be detected in living brains with techniques such as computed tomography brain scans, most brain changes can only be studied in brains taken from people after death (post mortem brains). In this study, which is part of the UK Medical Research Council Cognitive Function and Ageing Study (MRC CFAS), the researchers look for associations between dementia in elderly people and pathological changes in their post mortem brains and estimate the attributable-risk (AR) for dementia at death associated with specific pathological features in the brain. That is, they estimate the proportion of dementia directly attributable to each type of pathology.
What Did the Researchers Do and Find?
Nearly 20 years ago, the MRC CFAS interviewed more than 18,000 people aged 65 years or older recruited at six sites in England and Wales to determine their cognitive function and their ability to deal with daily activities. 20% of the participants, which included people with and without cognitive impairment, were then assessed in more detail and invited to donate their brains for post mortem examination. As of 2004, 456 individuals had donated their brains. The dementia status of these donors was established using data from their assessment interviews and death certificates, and from interviews with relatives and carers, and their brains were carefully examined for abnormal changes. The researchers then used statistical methods to estimate the AR for dementia at death associated with various abnormal brain changes. The main contributors to AR for dementia at death included age (18% of dementia at death was attributable to this factor), plaques (8%), and neurofibrillary tangles (11%) in a brain region called the neocortex, small blood vessel disease (12%), and multiple abnormal changes in blood vessels (9%).
What Do These Findings Mean?
These findings suggest that multiple abnormal brain changes determine the overall burden of dementia. Importantly, they also suggest that dementia is often associated with mixed pathological changes—many people with dementia had brain changes consistent with both Alzheimer disease and vascular dementia. Because people with dementia live for variable lengths of time during which the abnormal changes in their brain are likely to alter, it may be difficult to extrapolate these findings to living populations of elderly people. Furthermore, only a small percentage of the MRC CFAS participants have donated their brains so the findings of this study may not apply to the general population. Nevertheless, these findings suggest that the new therapies currently under development may do little to reduce the overall burden of dementia because most people's dementia involves multiple pathologies. Consequently, it may be necessary to develop a range of strategies and combination therapies to deal with the ongoing dementia epidemic.
Additional Information
Please access these Web sites via the online version of this summary at
The US National Institute on Aging provides information for patients and carers about forgetfulness and about Alzheimer disease (in English and Spanish)
The US National Institute of Neurological Disorders and Stroke provides information about dementia (in English and Spanish)
The UK National Health Service Choices Web site also provides detailed information for patients and their carers about dementia and about Alzheimer disease
MedlinePlus provides links to additional resources about dementia and Alzheimer disease (in English and Spanish)
More information about the UK Medical Research Council Cognitive Function and Ageing Study (MRC CFAS) is available
PMCID: PMC2765638  PMID: 19901977
20.  The cock, the Academy, and the best scientific journal in the world 
The reader is invited to travel to Ancient Greece, contemporary Brazil, and other places in a fantasy search for the best scientific journal. This whimsical search does not rely on the impact factor, the most popular tool used in real life for finding good journals. Instead, it takes advantage of the so-called authority factor, a recently proposed alternative to the impact factor. The authority factor of a particular journal is the mean h-index (Hirsch's index) of the most suitable group of this journal's editors. Having no connection to any major function of scientific journals, and also being arbitrary (which group of editors to select?), this factor is poorly suited for any technical analysis, but it seems to work well for “small-talk” editorials and self-promotion by complacent editors. Interestingly, the highest authority factor we could find belongs to the journal Temperature. This claim, however, should not be taken too seriously.
PMCID: PMC4843937  PMID: 27227057
Brazil; Impact factor; journal quality; journal Temperature; scientific publishing
21.  Quality of descriptions of treatments: a review of published randomised controlled trials 
BMJ Open  2012;2(6):e001978.
To be useable in clinical practise, treatments studied in trials must provide sufficient information to enable clinicians and researchers to replicate. We sought to assess the completeness of treatment descriptions in published randomised controlled trials (RCTs) using a checklist and to determine the extent to which peer reviewers and editors comment on the quality of reporting of treatments.
A cross-sectional study.
Trials published in the BMJ, a general medical journal.
Fifty-one trials published in the BMJ were independently evaluated by two raters using a checklist. Reviewers’ and editors’ comments were also assessed for statements on treatment descriptions.
Primary and secondary outcome measures
Proportion of trials rated as replicable (primary outcome).
For 57% (29/51) of the papers, published treatment descriptions were not considered sufficient to allow replication. Most poorly described aspects were the actual procedures involved including the sequencing of the technique (what happened and when) and the physical or informational materials used (eg, training materials): 53% and 43% not clear, respectively. For a third of treatments, the dose/duration of individual sessions was not clear and for a quarter the schedule (interval, frequency, duration or timing) was not clear. Although the majority of problems were not picked up by reviewers and editors, when they were detected only about two-thirds were fixed before publication.
Journals wanting to publish the research of use to practising healthcare professionals need to pay more attention to descriptions of treatments. Our checklist, may be useful for reviewers, and editors and could help ensure that important details of treatments are provided before papers are in the public domain.
PMCID: PMC3533061  PMID: 23180392
General Medicine (see Internal Medicine); Journalism (see Medical Journalism)
22.  Current Status and Future Direction of Interventional Neuroradiology, the Official Journal of the World Federation of Interventional and Therapeutic Neuroradiology 
Interventional Neuroradiology  2009;15(3):259-265.
Interventional Neuroradiology (INR) is an international journal devoted to a highly subspecialized field with international editorial board members and a representative journal through which the specialty of neurointervention has continuously evolved, especially through the efforts and passion of Professor Pierre Lasjaunias. Articles in INR are submitted by authors in many countries worldwide and are peer reviewed by international referees. Considering that interventional neuroradiology is the highly specialized field that INR pursues, the impact factor or the Eigenfactor score of INR is still very low partly because the LinkOut services, including PubMed, are not yet provided in a sufficiently open way. Ethical research standards should also be emphasized in INR.
PMCID: PMC3299371  PMID: 20465908
citation analysis, journal impact factors, journal citation reports
23.  Globalization and Health: developing the journal to advance the field 
Founded in 2005, Globalization and Health was the first open access global health journal. The journal has since expanded the field, and its influence, with the number of downloaded papers rising 17-fold, to over 4 million. Its ground-breaking papers, leading authors -including a Nobel Prize winner- and an impact factor of 2.25 place it among the top global health journals in the world. To mark the ten years since the journal’s founding, we, members of the current editorial board, undertook a review of the journal’s progress over the last decade. Through the application of an inductive thematic analysis, we systematically identified themes of research published in the journal from 2005 to 2014. We identify key areas the journal has promoted and consider these in the context of an existing framework, identify current gaps in global health research and highlight areas we, as a journal, would like to see strengthened.
PMCID: PMC4785659  PMID: 26961760
24.  Mapping the literature of occupational therapy. 
Occupational therapy, formally organized in the United States in 1917, is considered an allied health field. Mapping occupational therapy literature is part of a bibliometric project of the Medical Library Association's Nursing and Allied Health Resources Section's project for mapping the literature of allied health. Three core journals were selected from the years 1995 and 1996 and a determination was made of the extent to which the cited journal references were covered by standard indexing sources. Using Bradford's Law of Scattering three zones were created, each containing approximately one-third of the cited journal references. The results showed that three journals made up the first zone, 117 journals the second, and 657 the third. The most cited journal was the American Journal of Occupational Therapy. In the second zone, journals from twelve disciplines were identified. While MEDLINE provided the best overall indexing, the Cumulative Index to Nursing and Allied Health Literature (CINAHL) was the only database that indexed the three most cited journals plus nine of the currently active titles in occupational therapy. MEDLINE could improve its coverage of occupational therapy by indexing the journals of the British, Canadian, and Australian national associations.
PMCID: PMC226589  PMID: 10427431
25.  A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk 
British Journal of Cancer  2002;86(2):233-238.
The aim was to compare the psychological impact of a multidisciplinary specialist genetics service with surgical provision in women at high risk and those at lower risk of familial breast cancer. Women (n=735) were randomized to a surgical consultation with (trial group) or without (control group) specialist genetic risk assessment and the possible offer of presymptomatic genetic testing. Participants completed questionnaires before and immediately after the consultation to assess anxiety, cancer worry, perceived risk, interest in genetic testing and satisfaction. Responses of subgroups of women stratified by clinicians as low, moderate, or high risk were analyzed. There were no significant main effects of study intervention on any outcome variable. Regardless of risk information, there was a statistically significant reduction in state anxiety (P<0.001). Reductions in cancer worry and perceived risk were significant for women at low or moderate risk (P<0.001) but not those at high risk, and satisfaction was significantly lower in the high risk group (P<0.001). In high risk women who received specialist genetic input, there was a marginally significant trend towards increased perceived risk. The effect of risk information on interest in genetic testing was not significant. Breast care specialists other than geneticists might provide assessments of breast cancer risk, reassuring women at reduced risk and targeting those at high risk for specialist genetic counselling and testing services. These findings are discussed in relation to the existing UK Calman-Hine model of service delivery in cancer genetics.
British Journal of Cancer (2002) 86, 233–238. DOI: 10.1038/sj/bjc/6600051
© 2002 The Cancer Research Campaign
PMCID: PMC2375197  PMID: 11870512
familial breast cancer; genetic risk assessment; psychological impact; service delivery

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