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News Article | April 26, 2017
Site: www.eurekalert.org

More research needed to determine whether easily identified patient characteristics can help doctors choose the best drug for each patient, according to a new study in Personalized Medicine in Psychiatry Philadelphia, PA, April 26, 2017 - Although drug therapy is the accepted first-line treatment for panic disorders (PDs), 17% to 64% of patients do not respond adequately and continue to exhibit one of the most common symptoms of PD, the panic attack (PA). In a comprehensive new analysis published in Personalized Medicine in Psychiatry, researchers carefully reviewed scientific data to establish whether a personalized treatment approach could help physicians prescribe the drug that will work most effectively for a specific patient. "The major goal of a personalized treatment approach is to tailor interventions according to each patient's unique profile and characteristics," explained lead investigator Daniela Caldirola, MD, PhD, of the Department of Clinical Neurosciences, Hermanas Hospitalarias, Como, Italy, "Although still a challenging issue for clinicians, a personalized approach, based on reliable predictors of pharmacotherapy course, may provide relevant advances in the treatment of psychiatric disorders. PD, a common and debilitating psychiatric condition, could greatly benefit from such an approach, because from a clinical perspective there is still a strong unmet need for more efficacious pharmacological interventions in this disorder." Several medications are effective for treating PD, including selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), tricyclic antidepressants (TCAs), and benzodiazepines. However, in short-term clinical trials, 17%-64% of participants with PD did not respond adequately to pharmacotherapy and continued to have PAs and/or exhibited negative behavior related to PAs. After a careful review of more than 1,000 studies, investigators identified 22 randomized, placebo-controlled studies of three drugs, paroxetine, venlafaxine XR, and alprazolam, suitable for inclusion in this meta-analysis. The primary goals were to identify sociodemographic and clinical characteristics that clinicians can easily evaluate in clinical practice before beginning treatment, i.e., gender, age, duration of PD, presence/severity of agoraphobia, number of the PAs, severity of the disorder, and severity of general anxiety/depressive symptoms, and both clinical outcomes and tolerability of FDA-approved medications for PD. "To the best of our knowledge, this is the first meta-analysis with this aim. In case of significant results, clinicians could use these variables as predictive tools to maximize therapeutic efficacy and minimize side effects of antipanic treatments according to each patient's characteristics," noted Dr. Caldirola. The meta-analysis provided very limited support for the moderating effects of sociodemographic and clinical variables on short term clinical outcomes and tolerability of paroxetine, venlafaxine XR, and alprazolam in treatment of PD. However, researchers found three important correlations: (1) longer illness duration was significantly associated with lower rate of patients free from PAs at the end of trials that compared venlafaxine XR to placebo, (2) higher age at the beginning of trials that compared paroxetine to placebo was significantly associated with higher rate of patients who dropped out of the studies because of adverse side effects, and (3) the longer the treatment, the higher the rate of patients free from PAs at the endpoint of RCTs with venlafaxine XR. Contributing to the advancement of the emerging field of personalized psychiatry in PD, the results will be useful for future studies on this topic and help to overcome the paucity of available data and shortcomings of current pharmacological studies in PD. "Our research does underscore the fact that, in the realm of pharmacotherapy for PD, reliable conclusions regarding the usefulness of sociodemographic and clinical variables as moderators of outcomes cannot yet be drawn," commented Dr. Caldirola. "The personalized approach to pharmacotherapy for PD, although at an early stage, appears to be the most promising way for increasing, within a reasonable timeframe, the rate of successful outcomes in this disorder, similar to trends in other fields of medicine, like oncology."


News Article | December 8, 2016
Site: www.scientificamerican.com

UNICELLULAR ORGANISM This image shows a unicellular organism belonging to the genus Frontonia, common in freshwater and saltwater environments around the world. It was taken with a technique called differential interference contrast, with a 200x magnification. Rogelio Moreno Gill; Panama WILDFLOWER STAMENS Israeli photographer Samuel Silberman captured this colorful image of wildflower stamens, the male reproductive organs of a flower. The photo used fiber-optic lighting, in with a light source brought to the subject through flexible tubes. Samuel Silberman; Yahud–Monoson, Israel "ROSE OF JERICHO" Leaves of Selaginella, a genus of plants common in tropical areas, are pictured here. One species, S. lepidophylla, is commonly known in Latin America as “rose of Jericho.” The image was taken using a technique called differential interference contrast to visualize transparent structures. David Maitland; Norfolk, United Kingdom THE LEG OF A WATER BEETLE This colorful photo shows the front side of the leg of a water beetle. The image was produced with a confocal microscope, using a technique in which a scanner is used to photograph sections up to 250 nanometers thick. These segments are then used to build a 3-D model of the specimen. Igor Siwanowicz; Howard Hughes Medical Institute (HHMI) NEURONS Rebecca Nutbrown from the University of Oxford took third place with this image of neurons (green) derived from human skin cells. The image also shows Schwann cells (in purple), which give support to the neurons, interacting in the same way they would with neurons in the brain. Rebecca Nutbrown; Nuffield Department of Clinical Neurosciences, University of Oxford AGATE Retired biologist Douglas Moore won second place for photographing the delicate details recorded on a 270 million-year-old agate from Canyon Tepee, S.D. These stones are unique not only for their age and vibrant colors, but because they often contain fossil remains that other types of agate don’t have. “That something so beautiful could have been stuck in a rock and survived for 273 million years is amazing,” Moore said. Douglas L. Moore; University of Wisconsin, Stevens Point Museum of Natural History ZEBRA FISH EMBRYO Due to its transparent nature, a zebra fish embryo in its fourth day of gestation can provide scientific data on the exact time when certain facial malformations, such as cleft lip, occur. This image, which took first place this year, was taken with a confocal microscope using 10x magnification. Oscar Ruiz; University of Texas MD Anderson Cancer Center Centuries after its invention, the microscope continues to prove that it is not only crucial to science but can also produce works of art—a feat acknowledged each year by the Nikon Small World Award, a competition in which the famous photographic brand recognizes what judges consider the most interesting and beautiful scientific images. Microscopic pictures of an insect, a 273 million-year-old rock and a culture of human neurons are among the 2016 winners. “Each of these images evoked a powerful reaction of wonder, tenderness or discomfort in the judges. This is where the connection between art and science, the emotional and the technical lies,” says Eric Flem, communications manager of Nikon Instruments. Oscar Ruiz, an Mexican-American scientist at the University of Texas M. D. Anderson Cancer Center in Houston, was the first-place winner this year with a photograph showing a zebra fish embryo at four days of gestation. Ruiz, who specializes in the genetic mutations that cause cleft lip and palate, is working on a study to explain how these physical abnormalities develop during pregnancy. To explore this issue the researcher uses zebra fish, whose transparent embryos offer almost perfect visualization of internal processes. His winning image involved one of these subjects, and there is more to it than visual beauty. The observational techniques Ruiz created make it possible to see how an embryo changes in real time. “It is something with high scientific value because it has not been done before with the cleft lip,” he says. Ruiz was thrilled to take the top spot in in the photo competition—organizers say judges reviewed 2,000 images from 70 countries. “This motivates me to keep working even more. Images like this help us to find the exact moment when the problem occurs, and then provide the basis for a solution,” Ruiz says. According to tradition, the images will be compiled in a calendar that is distributed among laboratories around the world. “I collected this calendar for years,” Ruiz quips. “Knowing that my image will now be there is priceless.”


News Article | December 19, 2016
Site: www.eurekalert.org

BOSTON - Neuroscientists at Beth Israel Deaconess Medical Center (BIDMC) have mapped the brain injuries - or lesions - that result in delusional misidentification syndromes (DMS), a group of rare disorders that leaves patients convinced people and places aren't really as they seem. In a study published in the journal Brain, Michael D. Fox, MD, PhD, Director of the Laboratory for Brain Network Imaging and Modulation and the Associate Director of the Berenson-Allen Center for Noninvasive Brain Stimulation at BIDMC and colleagues reveal the neuro-anatomy underlying these syndromes for the first time. "How the brain generates complex symptoms like this has long been a mystery," said Fox. "We showed how complex symptoms can emerge based on brain connectivity. With a lesion in exactly the right place, you can disrupt the brain's familiarity detector and reality monitor simultaneously, resulting in bizarre delusions. Understanding where these symptoms come from is an important step toward treating them." Delusional misidentification syndromes are among the most striking and least understood disorders encountered in neurology and psychiatry. First documented nearly a century ago, Capgras syndrome is a rare disorder in which patients recognize a family member while simultaneously experiencing that person as unfamiliar, leading to the conclusion that an imposter is impersonating their loved one. Conversely, the Fregoli delusion is the belief that strangers are actually loved ones in disguise. Misidentification delusions can also apply to pets and places. Fox and colleagues, including lead author R. Ryan Darby, MD, the Sidney R. Baer, Jr. Foundational Fellow in the Clinical Neurosciences at the Berenson-Allen Center at BIDMC, identified 17 patients with delusional misidentification syndromes and mapped them onto a standardized brain atlas. Then, using the lesion network mapping technique they recently developed, Darby and colleagues determined that all 17 lesions were functionally connected to an area of the brain called the retrosplenial cortex - thought to be involved in perceiving familiarity. Sixteen of the 17 lesions were also connected to a region in the right ventral frontal cortex, associated with belief evaluation. The scientists compared the data to 15 control brain injuries that led to delusions other than misidentification delusions. "Lesions causing all types of delusions were connected to belief violation regions, suggesting that these regions are involved in monitoring for delusional beliefs in general," Darby said. "However, only lesions causing delusional misidentifications were connected to familiarity regions, explaining the specific bizarre content - abnormal feelings of familiarity - in these delusions. In other words, lesions had to be connected to both regions to develop delusions like Capgras." The scientists note that their network mapping technique does not involve obtaining functional neuroimaging (fMRI) from the patients studied. Rather, data from normal patients determines which regions of the brain are normally connected to the mapped lesion locations. While this methodology carries several advantages, it does not prove these two regions are dysfunctional in delusional patients following the lesion. Doing so would require recruiting a large number of patients with the rare disorder to a follow up study, noted Darby. However, the new information gleaned from their study may help patients' families cope with a loved one's misidentification delusions -- which sometimes disappear as mysteriously as they come on. "The impact on the patient's family can be heart-breaking," said Darby. "I've seen patients who, thinking their homes were replicas, would pack their bags every night, hoping to return to their 'real' home. Patients who believe a spouse is an imposter often lose intimacy. In these cases, even just knowing that the delusion has a name and is part of a neurological disorder can be helpful for family members." Study coauthors include Simon Laganiere, MD, and Alvaro Pascual-Leone, MD, PhD, of the Berenson-Allen Center for Noninvasive Brain Stimulation at BIDMC; and Sashank Prasad, MD, of the Department of Neurology at Brigham and Women's Hospital. This work was supported by funding from the Sidney R. Baer, Jr. Foundation; grants from the National Institutes of Health (R01HD069776, R01NS073601, R21 NS082870, R21 MH099196, R21 NS085491, R21 HD07616, R25NS065743, K23NS083741); the Football Players Health Study at Harvard University; Harvard Catalyst | The Harvard Clinical and Translational Science Center (NCRR and the NCATS NIH, UL1 RR025758), and the American Brain Foundation. Beth Israel Deaconess Medical Center is a patient care, teaching and research affiliate of Harvard Medical School and consistently ranks as a national leader among independent hospitals in National Institutes of Health funding. BIDMC is in the community with Beth Israel Deaconess Hospital-Milton, Beth Israel Deaconess Hospital-Needham, Beth Israel Deaconess Hospital-Plymouth, Anna Jaques Hospital, Cambridge Health Alliance, Lawrence General Hospital, MetroWest Medical Center, Signature Healthcare, Beth Israel Deaconess HealthCare, Community Care Alliance and Atrius Health. BIDMC is also clinically affiliated with the Joslin Diabetes Center and Hebrew Rehabilitation Center and is a research partner of Dana-Farber/Harvard Cancer Center and the Jackson Laboratory. BIDMC is the official hospital of the Boston Red Sox. For more information, visit http://www. .


The International Association of HealthCare Professionals is pleased to welcome Jagdeep Kohli, MD, MSc, FRCPC, Neurologist, to their prestigious organization with his upcoming publication in The Leading Physicians of the World. Jagdeep Kohli is a highly trained and qualified neurologist with an extensive expertise in all facets of his work. Dr. Kohli has been in practice for more than 15 years and is currently serving patients within the Associate Clinic in Calgary, Alberta. He also serves as Assistant Professor of Neurology in the Department of Clinical Neurosciences at the University of Calgary. Dr. Jagdeep Kohli was educated in both the United States and Canada, and completed his residency training at the prestigious Mayo Clinic in Rochester, Minnesota. He has earned the coveted title of Fellow of the Royal College of Physicians of Canada, and keeps up to date with the latest advances and developments in his challenging field by maintaining a professional membership with the American Academy of Neurology. Dr. Kohli attributes his success to his hard work and patient care. When he is not working, Dr. Kohli is passionate about music, especially jazz guitar. Learn more about Dr. Kohli by reading his upcoming publication in The Leading Physicians of the World. FindaTopDoc.com is a hub for all things medicine, featuring detailed descriptions of medical professionals across all areas of expertise, and information on thousands of healthcare topics.  Each month, millions of patients use FindaTopDoc to find a doctor nearby and instantly book an appointment online or create a review.  FindaTopDoc.com features each doctor’s full professional biography highlighting their achievements, experience, patient reviews, and areas of expertise.  A leading provider of valuable health information that helps empower patient and doctor alike, FindaTopDoc enables readers to live a happier and healthier life.  For more information about FindaTopDoc, visit:http://www.findatopdoc.com


Kyto V.,University of Turku | Kyto V.,PET Center | Sipila J.,Clinical Neurosciences | Rautava P.,University of Turku
Circulation | Year: 2014

Methods and Results: We studied all patients aged ?16 years admitted to the hospital because of acute pericarditis (postpericardiotomy and myocardial infarction associated pericarditis were excluded). Data were collected from a Finnish national registry that included data on all cardiovascular admissions (670 409) during 9.5 years in 29 hospitals nationwide. During the study period, there were 1361 admissions for acute pericarditis. Pericarditis patients were more likely to be male (64.9% of patients) than female (35.1%), with an age-adjusted likelihood ratio of 1.85 (95% confidence interval [CI], 1.65-2.06; P<0.0001) for male sex. The standardized incidence rate of hospitalizations for acute pericarditis was 3.32 per 100 000 person-years. Men 16 to 65 years of age were at higher risk for pericarditis (relative risk, 2.02; 95% CI, 1.81-2.26; P<0.0001) than women in the general admitted population, with the highest risk difference among young adults. Acute pericarditis caused 0.20% (95% CI, 0.19%-0.22%) of all cardiovascular admissions. The proportion of pericarditis-caused admissions declined by an estimated 51% per 10-year increase in age. The in-hospital mortality rate for acute pericarditis was 1.1% (95% CI, 0.6%-1.8%). Mortality increased with age (hazard ratio, 3.26; 95% CI, 1.78-5.95 per 10-year increase in age; P=0.0001) and severe coinfection (pneumonia or septicemia; hazard ratio, 13.46; 95% CI, 2.26-80.01; P<0.005) but was not associated with sex in multivariate analysis.Conclusions: Patients hospitalized for acute pericarditis are more commonly male. Increasing age and severe coinfection are associated with greater in-hospital mortality in hospitalized acute pericarditis patients.Background: The clinical profile with regard to sex and the influences on outcomes in patients who have been hospitalized for acute pericarditis is largely uncharacterized. © 2014 American Heart Association, Inc.


CAMBRIDGE, Mass.--(BUSINESS WIRE)--Sanofi Genzyme, the specialty care global business unit of Sanofi, today announced the start of a Phase 2 trial of an investigational oral therapy for patients with Parkinson’s disease who carry a single copy of a gene mutation that is the most common genetic risk factor for the disease. The trial will assess the drug’s dynamics, efficacy and safety. This is the first industry-sponsored Phase 2 clinical trial in a genetically defined population of Parkinson’s disease. Parkinson’s disease is a chronic, degenerative neurological disorder affecting an estimated one million people in the United States and more than five million people worldwide.1 An estimated 5 – 10% of Parkinson’s disease patients carry a mutation of the glucocerebrosidase (GBA) gene that allows lipids called glycosphingolipids to build up in cells. The molecule being studied, GZ/SAR402671, reduces the production of glycosphingolipids. “ Patients with Parkinson’s disease and a GBA gene mutation are predisposed to develop motor symptoms at a younger age, have a higher prevalence of cognitive impairment and undergo more rapid disease progression,” explains Anthony Schapira, MD, DSc, FRCP, FMedSci, Head of Department of Clinical Neurosciences, UCL Institute of Neurology and Lead Principal Investigator for the study. “Investigating a targeted therapy for these patients is an important first step in addressing the serious unmet needs these patients and their families face in managing Parkinson’s disease.” The clinical trial, known as MOVES-PD, will be run in two phases: a dose escalation study followed by a study of efficacy and safety. The randomized, double blind study will enroll more than 200 patients at trial sites around the world. The primary endpoint of the study is the change in score from baseline in a scale commonly used to measure Parkinson’s disease progression known as the Movement Disorder Society Unified Parkinson's Disease Rating Scale Part II and III. This includes self-evaluation of daily life activities and motor experience, and a clinician-scored motor evaluation. “We are excited to be able to bring the results of our many years of research in GBA gene mutations to a new therapeutic area with the potential to benefit patients with Parkinson’s disease,” said Tanya Fischer, MD, PhD, Global Project Head of Early Development for Parkinson’s Disease and Movement Disorders, Sanofi R&D. “ We look forward to evaluating whether this molecule, which has been shown to cross into the brain in preclinical studies, may positively impact the devastating neurologic effects of this disease.” Sanofi has studied GBA gene mutations for more than 30 years. People with GBA mutations in both copies of the gene, as opposed to a single mutation in GBA Parkinson’s disease, have Gaucher disease. Gaucher disease is a rare genetic disorder in which the buildup of a lipid in the cells leads to a broad spectrum of systemic manifestations including bruising, fatigue, anemia, low blood platelets, bone and joint pain, enlargement of liver and spleen, as well as neurological manifestations such as seizures and incoordination in severe forms. Sanofi Genzyme introduced the world’s first treatment for Gaucher disease and Sanofi R&D remains committed to developing treatments for conditions associated with GBA mutations, including Gaucher disease and Parkinson’s disease. For more information on this trial, please visit https://www.clinicaltrials.gov/ or https://www.clinicaltrialsregister.eu. About Sanofi Sanofi, a global healthcare leader, discovers, develops and distributes therapeutic solutions focused on patients' needs. Sanofi is organized into five global business units: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Consumer Healthcare. Sanofi Genzyme focuses on developing specialty treatments for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families. Sanofi Forward-Looking Statements This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, as amended. Forward-looking statements are statements that are not historical facts. These statements include projections and estimates and their underlying assumptions, statements regarding plans, objectives, intentions and expectations with respect to future financial results, events, operations, services, product development and potential, and statements regarding future performance. Forward-looking statements are generally identified by the words "expects", "anticipates", "believes", "intends", "estimates", "plans" and similar expressions. Although Sanofi's management believes that the expectations reflected in such forward-looking statements are reasonable, investors are cautioned that forward-looking information and statements are subject to various risks and uncertainties, many of which are difficult to predict and generally beyond the control of Sanofi, that could cause actual results and developments to differ materially from those expressed in, or implied or projected by, the forward-looking information and statements. These risks and uncertainties include among other things, the uncertainties inherent in research and development, future clinical data and analysis, including post marketing, decisions by regulatory authorities, such as the FDA or the EMA, regarding whether and when to approve any drug, device or biological application that may be filed for any such product candidates as well as their decisions regarding labelling and other matters that could affect the availability or commercial potential of such product candidates, the absence of guarantee that the product candidates if approved will be commercially successful, the future approval and commercial success of therapeutic alternatives, Sanofi's ability to benefit from external growth opportunities and/or obtain regulatory clearances, risks associated with intellectual property and any related pending or future litigation and the ultimate outcome of such litigation, trends in exchange rates and prevailing interest rates, volatile economic conditions, the impact of cost containment initiatives and subsequent changes thereto, the average number of shares outstanding as well as those discussed or identified in the public filings with the SEC and the AMF made by Sanofi, including those listed under "Risk Factors" and "Cautionary Statement Regarding Forward-Looking Statements" in Sanofi's annual report on Form 20-F for the year ended December 31, 2015. Other than as required by applicable law, Sanofi does not undertake any obligation to update or revise any forward-looking information or statements.


Larkin S.J.,Clinical Neurosciences | Larkin S.J.,John Radcliffe Hospital | Ansorge O.,Clinical Neurosciences | Ansorge O.,John Radcliffe Hospital
Pituitary | Year: 2013

Craniopharyngiomas are benign but locally invasive tumours of the sellar region that occur as two subtypes. The adamantinomatous type (aCP) occurs mainly during childhood while the papillary type (pCP) is found almost exclusively in adults. It is thought that aCPs arise from ectopic embryonic remnants of Rathke's pouch and these tumours share features with odontogenic tumours suggesting a common origin. The pathogenesis of pCPs is less understood but these tumours may arise from metaplastic transformation of anterior pituitary epithelial cells. Mutations in CTNNB1 that encodes β-catenin are found in around 70 % of aCPs. These mutations stabilise β-catenin, which evades destruction and accumulates in the nucleus and cytosol leading to constitutive activation of the Wnt signaling pathway. Expression of mutant β-catenin early in mouse pituitary development promotes the formation of tumours similar to aCPs. However, accumulation of β-catenin occurs only in small clusters of tumour cells even though the mutation is ubiquitous. These cell clusters are slow-growing and share some characteristics with pituitary stem cells. They are often present at the invading edge and express growth factors that may participate in paracrine signaling to surrounding cells. β-Catenin nuclear translocation may also occur in the absence of CTNNB1 mutations, suggesting that other genetic or epigenetic events can activate Wnt signaling in aCP. These mechanisms, as well as those underlying the molecular pathogenesis of pCPs remain to be identified. © 2012 Springer Science+Business Media, LLC.


News Article | December 20, 2016
Site: www.biosciencetechnology.com

Neuroscientists at Beth Israel Deaconess Medical Center (BIDMC) have mapped the brain injuries - or lesions - that result in delusional misidentification syndromes (DMS), a group of rare disorders that leaves patients convinced people and places aren't really as they seem. In a study published in the journal Brain, Michael D. Fox, M.D., Ph.D., Director of the Laboratory for Brain Network Imaging and Modulation and the Associate Director of the Berenson-Allen Center for Noninvasive Brain Stimulation at BIDMC and colleagues reveal the neuro-anatomy underlying these syndromes for the first time. "How the brain generates complex symptoms like this has long been a mystery," said Fox. "We showed how complex symptoms can emerge based on brain connectivity. With a lesion in exactly the right place, you can disrupt the brain's familiarity detector and reality monitor simultaneously, resulting in bizarre delusions. Understanding where these symptoms come from is an important step toward treating them." Delusional misidentification syndromes are among the most striking and least understood disorders encountered in neurology and psychiatry. First documented nearly a century ago, Capgras syndrome is a rare disorder in which patients recognize a family member while simultaneously experiencing that person as unfamiliar, leading to the conclusion that an imposter is impersonating their loved one. Conversely, the Fregoli delusion is the belief that strangers are actually loved ones in disguise. Misidentification delusions can also apply to pets and places. Fox and colleagues, including lead author R. Ryan Darby, M.D., the Sidney R. Baer, Jr. Foundational Fellow in the Clinical Neurosciences at the Berenson-Allen Center at BIDMC, identified 17 patients with delusional misidentification syndromes and mapped them onto a standardized brain atlas. Then, using the lesion network mapping technique they recently developed, Darby and colleagues determined that all 17 lesions were functionally connected to an area of the brain called the retrosplenial cortex - thought to be involved in perceiving familiarity. Sixteen of the 17 lesions were also connected to a region in the right ventral frontal cortex, associated with belief evaluation. The scientists compared the data to 15 control brain injuries that led to delusions other than misidentification delusions. "Lesions causing all types of delusions were connected to belief violation regions, suggesting that these regions are involved in monitoring for delusional beliefs in general," Darby said. "However, only lesions causing delusional misidentifications were connected to familiarity regions, explaining the specific bizarre content - abnormal feelings of familiarity - in these delusions. In other words, lesions had to be connected to both regions to develop delusions like Capgras." The scientists note that their network mapping technique does not involve obtaining functional neuroimaging (fMRI) from the patients studied. Rather, data from normal patients determines which regions of the brain are normally connected to the mapped lesion locations. While this methodology carries several advantages, it does not prove these two regions are dysfunctional in delusional patients following the lesion. Doing so would require recruiting a large number of patients with the rare disorder to a follow up study, noted Darby. However, the new information gleaned from their study may help patients' families cope with a loved one's misidentification delusions -- which sometimes disappear as mysteriously as they come on. "The impact on the patient's family can be heart-breaking," said Darby. "I've seen patients who, thinking their homes were replicas, would pack their bags every night, hoping to return to their 'real' home. Patients who believe a spouse is an imposter often lose intimacy. In these cases, even just knowing that the delusion has a name and is part of a neurological disorder can be helpful for family members."


Adib-Samii P.,Clinical Neurosciences | Brice G.,St George's, University of London | Martin R.J.,Clinical Neurosciences | Martin R.J.,Gloucestershire Royal Hospital | Markus H.S.,Clinical Neurosciences
Stroke | Year: 2010

BACKGROUND AND PURPOSE-: Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited arteriopathy with clinical features that include recurrent lacunar stroke, migraine, and cognitive impairment. For reasons that remain unclear, there is great variability in the clinical expression of CADASIL, both between and within families. This study examined the clinical phenotype as well as any associations with risk factors and genotype in a large, prospective cohort. METHODS-: Two hundred symptomatic individuals from 124 families were recruited as part of a UK prevalence study of CADASIL and were seen subsequently in a national referral clinic. All were assessed by a standardized questionnaire and examination. RESULTS-: Mean age at assessment was 47.7 years and was 33.6 years at symptom onset. Migraine, usually with aura, was the most prevalent feature, affecting 75% of individuals. More than half had a history of stroke, with a mean age at onset of 46 years. Hypertension (odds ratio=2.57, P=0.007) and pack-years of smoking (odds ratio=1.07, P=0.001) were associated with an increased risk of stroke. A history of stroke was a significant risk factor for both dementia and disability. Mutations clustered in exon 4 of the NOTCH3 gene, which contained ≥71.4% of familial mutations. Four previously unreported mutations were found (T697C, C1279T, G1370C, and C1774T). No associations were identified between genotype and clinical phenotype. CONCLUSIONS-: Our data suggest that cardiovascular risk factors may modulate the clinical expression of CADASIL. The associations with hypertension and smoking suggest that risk factors should be treated aggressively in patients with CADASIL. © 2010 American Heart Association, Inc.


Norris J.W.,Clinical Neurosciences
Journal of Neural Transmission | Year: 2013

There are no reliable data from randomised trials to decide whether anticoagulants or antiplatelet agents are better to prevent further thromboembolic events after cervical arterial dissection. Most neurologists favour anticoagulants based on the underlying pathology and the likely course of acute post-dissection thromboembolism © 2012 Springer-Verlag Wien.

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