148 results
Search Results
2. Clozapine-induced myocarditis: electronic health register analysis of incidence, timing, clinical markers and diagnostic accuracy
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Carla M. Plymen, Theresa McDonagh, James H. MacCabe, Aviv Segev, Cecilia Casetta, Ebenezer Oloyede, Ehtesham Iqbal, and Susan Piper
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Paper ,Pediatrics ,medicine.medical_specialty ,Myocarditis ,Drug-Related Side Effects and Adverse Reactions ,drug interactions and side-effects ,03 medical and health sciences ,0302 clinical medicine ,Tachycardia ,psychotic disorders ,medicine ,Humans ,Antipsychotics ,Clozapine ,Depression (differential diagnoses) ,Retrospective Studies ,business.industry ,Incidence ,Incidence (epidemiology) ,risk assessment ,medicine.disease ,General Adult ,Troponin ,030227 psychiatry ,schizophrenia ,Psychiatry and Mental health ,Esketamine ,Register (music) ,Schizophrenia ,Electronics ,business ,Risk assessment ,Biomarkers ,030217 neurology & neurosurgery ,Antipsychotic Agents ,medicine.drug - Abstract
BackgroundClozapine is associated with increased risk of myocarditis. However, many common side-effects of clozapine overlap with the clinical manifestations of myocarditis. As a result, there is uncertainty about which signs, symptoms and investigations are important in distinguishing myocarditis from benign adverse effects of clozapine. Clarity on this issue is important, since missing a diagnosis of myocarditis or discontinuing clozapine unnecessarily may both have devastating consequences.AimsTo examine the clinical characteristics of clozapine-induced myocarditis and to identify which signs and symptoms distinguish true myocarditis from other clozapine adverse effects.MethodA retrospective analysis of the record database for 247 621 patients was performed. A natural language processing algorithm identified the instances of patients in which myocarditis was suspected. The anonymised case notes for the patients of each suspected instance were then manually examined, and those whose instances were ambiguous were referred for an independent assessment by up to three cardiologists. Patients with suspected instances were classified as having confirmed myocarditis, myocarditis ruled out or undetermined.ResultsOf 254 instances in 228 patients with suspected myocarditis, 11.4% (n = 29 instances) were confirmed as probable myocarditis. Troponin and C-reactive protein (CRP) had excellent diagnostic value (area under the curve 0.975 and 0.896, respectively), whereas tachycardia was of little diagnostic value. All confirmed instances occurred within 42 days of clozapine initiation.ConclusionsSuspicion of myocarditis can lead to unnecessary discontinuation of clozapine. The ‘critical period’ for myocarditis emergence is the first 6 weeks, and clinical signs including tachycardia are of low specificity. Elevated CRP and troponin are the best markers for the need for further evaluation.
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- 2021
3. Juvenile‐onset and adult‐onset demodicosis in dogs in the UK: prevalence and breed associations
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David B. Church, Dan G. O’Neill, E. Turgoose, David Brodbelt, and Anke Hendricks
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Paper ,Pediatrics ,medicine.medical_specialty ,business.industry ,Prevalence ,Breeding ,Logistic regression ,medicine.disease ,United Kingdom ,Breed ,West Highland White Terrier ,Dogs ,Risk Factors ,Papers ,Epidemiology ,medicine ,Demodicosis ,Animals ,Clinical significance ,Dog Diseases ,Risk factor ,Small Animals ,business - Abstract
Objectives To explore epidemiological features of demodicosis relevant to UK veterinary general practitioners. Breed risk factors were proposed as distinct between juvenile‐onset and adult‐onset disease. Materials and Methods The study used anonymised clinical data on dogs under primary veterinary care at practices enrolled in the UK VetCompass Programme. Case inclusion required recording of a final demodicosis diagnosis for a dermatological condition that was present during the 2013 study period. Risk factor analysis used multivariable logistic regression modelling. Results In dogs aged 4 years (adult‐onset), the 1‐year period prevalence was 0.05% (95% confidence interval: 0.0.04 to 0.06). Six breeds showed increased odds of demodicosis compared with crossbred dogs: Chinese shar‐pei, shih‐tzu, West Highland white terrier, pug, boxer and Border terrier. Clinical Significance Juvenile‐onset demodicosis is much more common (about 10 times higher) than the adult‐onset form. Knowledge of the predisposed breeds for these two presentations can assist with diagnosis and support the concept of distinct aetiopathogenetic phenotypes.
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- 2019
4. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
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Judith S. Verhoeven, In Y. Tan, Joost Nicolai, Rolph Pfundt, Han G. Brunner, Erik-Jan Kamsteeg, Marjolein H. Willemsen, Mariel W. A. Teunissen, Helenius J. Schelhaas, Jeroen Schoots, Alexander P.A. Stegmann, Eric Smeets, Jans S. van Ool, Petra van Mierlo, Rob P.W. Rouhl, Helger G. Yntema, Francesca M. Snoeijen-Schouwenaars, Hilde M. H. Braakman, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Polikliniek (9), Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA AIOS Neurologie (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), and MUMC+: DA Pat Cytologie (9)
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Male ,0301 basic medicine ,Pediatrics ,CHILDREN ,Current Literature in Clinical Science ,GRIN2A ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Epilepsy ,0302 clinical medicine ,Epidemiology ,Intellectual disability ,EPIDEMIOLOGY ,Exome ,Child ,health care economics and organizations ,Exome sequencing ,seizures ,next generation sequencing ,education.field_of_study ,learning disability ,ENCEPHALOPATHY ,Middle Aged ,Neurology ,Child, Preschool ,Medical genetics ,Female ,Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] ,Adult ,medicine.medical_specialty ,Adolescent ,GENETICS ,Population ,Young Adult ,03 medical and health sciences ,genetic diagnosis ,All institutes and research themes of the Radboud University Medical Center ,PEOPLE ,Intellectual Disability ,Exome Sequencing ,medicine ,Humans ,Genetic Testing ,education ,Aged ,Retrospective Studies ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,business.industry ,medicine.disease ,030104 developmental biology ,DE-NOVO MUTATIONS ,LAMOTRIGINE ,Etiology ,PAPER ,Neurology (clinical) ,business ,GENOMICS ,030217 neurology & neurosurgery - Abstract
Diagnostic Exome Sequencing in 100 Consecutive Patients With Both Epilepsy and Intellectual Disability Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, et al. Epilepsia. 2019;60(1):155-164. doi:10.1111/epi.14618. Epub December 7, 2018. PMID: 30525188.Objective:Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole-exome sequencing (WES). In addition, we evaluated which clinical characteristics influence the likelihood of identifying a genetic cause and we assessed the potential impact of the genetic diagnosis on (antiepileptic) treatment strategy.Methods:One hundred patients with both unexplained epilepsy and (borderline) ID (intelligence quotient ≤85) were included. All patients were evaluated by a clinical geneticist, a (pediatric) neurologist, and/or a specialist ID physician. Whole-exome sequencing analysis was performed in 2 steps. In step 1, analysis was restricted to the latest versions of ID and/or epilepsy gene panels. In step 2, exome analysis was extended to all genes (so-called full exome analysis). The results were classified according to the American College of Medical Genetics and Genomics guidelines. Results: In 58 patients, the diagnostic WES analysis reported one or more variant(s). In 25 of the 100 patients, these were classified as (likely) pathogenic, in 24 patients as variants of uncertain significance, and in the remaining patients the variant was most likely not related to the phenotype. In 10 (40%) of 25 patients with a (likely) pathogenic variant, the genetic diagnosis might have an impact on the treatment strategy in the future.Significance:This study illustrates the clinical diagnostic relevance of WES for patients with both epilepsy and ID. It also demonstrates that implementing WES diagnostics might have impact on the (antiepileptic) treatment strategy in this population. Confirmation of variants of uncertain significance in (candidate) genes may further increase the yield. Diagnostic Yield of Genetic Tests in Epilepsy: A Meta-Analysis and Cost-Effectiveness Study Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Neurology. 2019. Epub ahead of print. pii: 10.1212/WNL.0000000000006850. doi:10.1212/WNL.0000000000006850. PMID: 30610098 Objective:To compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology.Methods:This meta-analysis and cost-effectiveness study compared strategies involving 3 genetic tests: chromosomal microarray (CMA), epilepsy panel (EP) with deletion/duplication testing, and whole-exome sequencing (WES) in a cost-effectiveness model, using “no genetic testing”“ as a point of comparison.Results:Twenty studies provided information on the diagnostic yield of CMA (8 studies), EP (9 studies), and WES (6 studies). The diagnostic yield was highest for WES: 0.45 (95% confidence interval [CI]: 0.33-0.57; 0.32 [95% CI: 0.22-0.44] adjusting for potential publication bias), followed by EP: 0.23 (95% CI: 0.18-0.29) and CMA: 0.08 (95% CI: 0.06-0.12). The most cost-effective test was WES with an incremental cost-effectiveness ratio (ICER) of US$15 000/diagnosis. However, after adjusting for potential publication bias, the most cost-effective test was EP (ICER: US$15 848/diagnosis) followed by WES (ICER: US$34 500/diagnosis). Among combination strategies, the most cost-effective strategy was WES, then if nondiagnostic, EP, then if nondiagnostic, CMA (ICER: US$15 336/diagnosis); although adjusting for potential publication bias, the most cost-effective strategy was EP ± CMA ± WES (ICER: US$18 385/diagnosis). Although the cost-effectiveness of individual tests and testing strategies overlapped, CMA was consistently less cost-effective than WES and EP.Conclusion:Whole-exome sequencing and EP are the most cost-effective genetic tests for epilepsy. Our analyses support for a broad population of patients with unexplained epilepsy, starting with these tests. Although less expensive, CMA has lower yield, and its use as the first-tier test is thus not supported from a cost-effectiveness perspective.
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- 2019
5. Paper-based microchip electrophoresis for point-of-care hemoglobin testing
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Stephen K. Obaro, Melissa S. Creary, Nicholas Kocmich, Aparup Das, Asya Akkus, Julia Z. Xu, Arwa Fraiwan, Vip Viprakasit, Priyaleela Thota, Tolulope Oginni, Takdanai Ngimhung, Jane A. Little, Umut A. Gurkan, Fatimah Hassan-Hanga, Grace Olanipekun, Connie M. Piccone, Yunus Alapan, Praveen K. Bharti, Binta W. Jibir, Ryan Ung, Ran An, Suchada Riolueang, Greg Werner, Rajasubramaniam Shanmugam, Amy J. Rezac, Safiya Gambo, Muhammad Noman Hasan, Thidarat Suksangpleng, and Anil Kumar Verma
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Paper ,Pediatrics ,medicine.medical_specialty ,Point-of-Care Systems ,Population ,Hemoglobin, Sickle ,Disease ,Biochemistry ,Article ,Analytical Chemistry ,Electrophoresis, Microchip ,03 medical and health sciences ,Hemoglobins ,User-Computer Interface ,0302 clinical medicine ,Electrochemistry ,Image Processing, Computer-Assisted ,Environmental Chemistry ,Medicine ,Humans ,education ,Spectroscopy ,Disease burden ,030304 developmental biology ,Point of care ,0303 health sciences ,education.field_of_study ,Miniaturization ,business.industry ,Hemoglobin variants ,medicine.disease ,3. Good health ,Hemoglobin C ,030220 oncology & carcinogenesis ,Hemoglobin E ,Hemoglobin ,business - Abstract
Nearly 7% of the world’s population lives with a hemoglobin variant. Hemoglobins S, C, and E are the most common and significant hemoglobin variants worldwide. Sickle cell disease, caused by hemoglobin S, is highly prevalent in sub-Saharan Africa and in tribal populations of Central India. Hemoglobin C is common in West Africa, and hemoglobin E is common in Southeast Asia. Screening for significant hemoglobin disorders is not currently feasible in many low-income countries with the high disease burden. Lack of early diagnosis leads to preventable high morbidity and mortality in children born with hemoglobin variants in low-resource settings. Here, we describe HemeChip, the first miniaturized, paper-based, microchip electrophoresis platform for identifying the most common hemoglobin variants easily and affordably at the point-of-care in low-resource settings. HemeChip test works with a drop of blood. HemeChip system guides the user step-by-step through the test procedure with animated on-screen instructions. Hemoglobin identification and quantification is automatically performed, and hemoglobin types and percentages are displayed in an easily understandable, objective way. We show the feasibility and high accuracy of HemeChip via testing 768 subjects by clinical sites in the United States, Central India, sub-Saharan Africa, and Southeast Asia. Validation studies include hemoglobin E testing in Bangkok, Thailand, and hemoglobin S testing in Chhattisgarh, India, and in Kano, Nigeria, where the sickle cell disease burden is the highest in the world. Tests were performed by local users, including healthcare workers and clinical laboratory personnel. Study design, methods, and results are presented according to the Standards for Reporting Diagnostic Accuracy (STARD). HemeChip correctly identified all subjects with hemoglobin S, C, and E variants with 100% sensitivity, and displayed an overall diagnostic accuracy of 98.4% in comparison to reference standard methods. HemeChip is a versatile, mass-producible microchip electrophoresis platform that addresses a major unmet need of decentralized hemoglobin analysis in resource-limited settings.
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- 2020
6. Immunisation schedule of the Spanish Association of Paediatrics: 2020 recommendations
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Francisco José Álvarez García, María José Cilleruelo Ortega, Javier Álvarez Aldeán, María Garcés-Sánchez, Nuria García Sánchez, Elisa Garrote Llanos, Ángel Hernández Merino, Antonio Iofrío de Arce, Manuel Merino Moína, Abián Montesdeoca Melián, María Luisa Navarro Gómez, Jesús Ruiz-Contreras, and UAM. Departamento de Pediatría
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Vacunas ,Vacunación infantil ,Adolescent ,Medicina ,adolescente ,vaccine preventable diseases ,enfermedades inmunoprevenibles ,Pediatrics ,RJ1-570 ,03 medical and health sciences ,calendario de vacunación ,0302 clinical medicine ,Immunisation schedule ,immunisation schedule ,030225 pediatrics ,Vaccine preventable diseases ,england ,vacunas ,Child ,Adolescente ,meningococcal disease ,child ,lactante ,Vaccines ,paper ,Pediatría ,Vacunación ,Calendario de vacunación ,niño ,Infant ,Lactante ,vaccines ,infant ,Niño ,adolescent ,Pediatrics, Perinatology and Child Health ,impact ,epidemiology ,Enfermedades inmunoprevenibles ,varicella vaccination - Abstract
El CAV-AEP publica anualmente el calendario de vacunaciones que estima idóneo para los niños residentes en España, teniendo en cuenta la evidencia científica disponible. Se mantiene el esquema 2 + 1 (2, 4 y 11 meses) con vacunas hexavalentes (DTPa-VPI-Hib-HB) y con antineumocócica conjugada 13-valente. Se aconseja un refuerzo a los 6 años, preferentemente con DTPa (si está disponible), junto a una dosis de polio para aquellos que recibieron esquemas 2 + 1, así como vacunación con Tdpa en adolescentes y en cada embarazo, preferentemente entre las 27 y las 32 semanas. La vacuna del rotavirus debería ser sistemática para todos los lactantes. Se sigue proponiendo la incorporación en el calendario de la vacuna antimeningocócica B, con esquema 2 + 1 en lactantes. Además de la inclusión de la vacuna antimeningocócica conjugada tetravalente (MenACWY) a los 12 años con rescate hasta los 18 años, inclusive, el CAV recomienda que esta vacuna sea introducida también a los 12 meses de edad, sustituyendo a MenC. Igualmente, se recomienda en los mayores de 6 semanas de edad con factores de riesgo o que viajen a países de elevada incidencia de estos serogrupos. Se emplearán esquemas de 2 dosis para triple vírica (12 meses y 3-4 años) y varicela (15 meses y 3-4 años). La segunda dosis se podría aplicar como vacuna tetravírica. Se recomienda la vacunación sistemática universal frente al VPH, tanto a chicas como a chicos, preferentemente a los 12 años, debiendo realizar un mayor esfuerzo para mejorar las coberturas. La de 9 genotipos amplía la cobertura para ambos sexos, The CAV-AEP annually publishes the immunisation schedule considered optimal for all children resident in Spain, taking into account the available evidence. The 2 + 1 schedule is recommended (2, 4, and 11 months) with hexavalent vaccines (DTPa- VPI-Hib-HB) and with 13-valent pneumococcal conjugate. A 6-year booster is recommended, preferably with DTPa (if available), with a dose of polio for those who received 2 + 1 schemes, as well as vaccination with Tdpa in adolescents and in each pregnancy, preferably between 27 and 32 weeks. Rotavirus vaccine should be systematic for all infants. Meningococcal B vaccine, with a 2+1 schedule, should be included in routine calendar. In addition to the inclusion of the conjugated tetravalent meningococcal vaccine (MenACWY) at 12 years of age with catch up to 18 years, inclusive, the CAV recommends this vaccine to be also included at 12 months of age, replacing MenC. Likewise, it is recommended in those over 6 weeks of age with risk factors or who travel to countries with a high incidence of these serogroups. Two-dose schedules for MMR (12 months and 3-4 years) and varicella (15 months and 3-4 years) will be used. The second dose could be applied as a tetraviral vaccine. Universal systematic vaccination against HPV is recommended, both for girls and boys, preferably at 12 years, and greater effort should be made to improve coverage. The 9 genotype extends coverage for both genders
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- 2020
7. Highly cited publications in pediatric neurosurgery: part 2.
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Khan, Nickalus R., Auschwitz, Tyler, McAbee, Joseph H., Boop, Frederick A., and Klimo Jr, Paul
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NEUROSURGERY , *PAPER , *PEDIATRICS , *SERIAL publications - Abstract
Purpose: Citation counting can be used to evaluate the impact an article has made on its discipline. This study characterizes the most cited articles related to clinical pediatric neurosurgery as of July 2013. Methods: A list of search terms was computed using Thomson Reuters Web of Science® (WOS) to capture the 100 most cited articles in the overall literature and the top 50 articles from 2002 to 2012 related to clinical pediatric neurosurgery from non-dedicated pediatric neurosurgical journals. The following information was recorded for each article: number of authors, country of origin, citation count adjusted for number of years in print, topic, and level of evidence. Results: The 100 most cited articles appeared in 44 journals. Publication dates ranged from 1986 to 2008; two were class 1 evidence, nine class 2, 26 class 3, and 52 class 4. Citations ranged from 90 to 321 (mean = 131); average time-adjusted citation count was 10. The 50 most cited articles from 2002 to 2012 appeared in 31 journals; four were class 2 evidence, 15 class 3, and 21 class 4. Citations ranged from 68 to 245 (mean = 103); average time-adjusted citation count was 13. Conclusion: Overall, papers from non-pediatric neurosurgical journals had higher citation counts and improved level of evidence grades compared to articles from pediatric neurosurgical periodicals. An original paper related to clinical pediatric neurosurgery in a non-pediatric neurosurgical journal having a total citation count of 100–150 or more and an average citation count of 10–15 per year or more can be considered a high-impact publication. [ABSTRACT FROM AUTHOR]
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- 2013
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8. Self-reported cognitive outcomes among adolescent and young adult patients with noncentral nervous system cancers
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Jaclyn Jia Jun Mah, Alexandre Chan, Chia Jie Tan, Wei Lin Goh, Eileen Poon, and Mohamad Farid Bin Harunal Rashid
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Nervous system ,Male ,Pediatrics ,FACT-Cog ,distress thermometer ,Anxiety ,0302 clinical medicine ,Cognition ,Cancer Survivors ,Neoplasms ,Medicine ,Psychology ,030212 general & internal medicine ,Young adult ,Cognitive impairment ,Fatigue ,Minimal clinically important difference ,Middle Aged ,humanities ,Psychiatry and Mental health ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Papers ,oncology ,Female ,medicine.symptom ,Paper ,medicine.medical_specialty ,FACT‐Cog ,Adolescent ,Clinical Sciences ,Oncology and Carcinogenesis ,Psycho-oncology ,Experimental and Cognitive Psychology ,03 medical and health sciences ,Young Adult ,cancer ,Humans ,Cognitive Dysfunction ,Oncology & Carcinogenesis ,cognitive impairment ,business.industry ,Cancer ,medicine.disease ,psycho‐oncology ,psycho-oncology ,Self Report ,business - Abstract
Author(s): Tan, Chia Jie; Mah, Jaclyn Jia Jun; Goh, Wei Lin; Poon, Eileen; Harunal Rashid, Mohamad Farid; Chan, Alexandre | Abstract: ObjectiveCancer-related cognitive impairment (CRCI) among adolescent and young adult (AYA) cancer patients with noncentral nervous system (CNS) cancers has not been well studied. In this study, we aimed to describe CRCI-associated trends and characteristics among AYA cancer patients.MethodsIn a longitudinal cohort of AYA cancer patients without CNS disease, CRCI was evaluated over 1 year using the Functional Assessment of Cancer Therapy-Cognitive Function Instrument, a self-reported cognitive outcome measure. CRCI prevalence was quantified using the previously established minimal clinically important difference. CRCI-associated longitudinal trends and factors were evaluated with mixed-effects model analysis.ResultsNinety-one patients (mean age = 28.4 ± 6.7 years) were included. Approximately one-third (34.1%) experienced CRCI at least once during the study follow-up. Female gender (P = .02), Indian ethnicity (P l .01), current smokers (P l .01), anxiety/depressive symptoms (P l .01) and fatigue (P l .01) were found to be associated with poorer cognitive function among AYAs.ConclusionsAlthough AYA cancer patients were relatively young and without CNS disease involvement, a significant proportion of them experienced clinically important decline in cognitive function. With improved understanding of this subject, effective strategies can be formulated to promote awareness of CRCI and mitigate its negative effects among AYA cancer patients.
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- 2019
9. Diagnosed depression and sociodemographic factors as predictors of mortality in patients with dementia
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Nomi Werbeloff, Joseph Hayes, Gemma Lewis, David Osborn, and Robert Howard
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Paper ,Male ,Pediatrics ,medicine.medical_specialty ,Databases, Factual ,common ,MEDLINE ,White People ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Asian People ,Risk Factors ,medicine ,Dementia ,Humans ,030212 general & internal medicine ,Depression (differential diagnoses) ,Aged ,Proportional Hazards Models ,Aged, 80 and over ,Psychiatric Status Rating Scales ,Depressive Disorder ,Proportional hazards model ,business.industry ,Depression ,common.demographic_type ,Hazard ratio ,Middle Aged ,medicine.disease ,Mental health ,United Kingdom ,3. Good health ,Psychiatry and Mental health ,Female ,business ,030217 neurology & neurosurgery ,Cohort study ,White British - Abstract
BackgroundPotentially modifiable risk factors for developing dementia have been identified. However, risk factors for increased mortality in patients with diagnosed dementia are not well understood. Identifying factors that influence prognosis would help clinicians plan care and address unmet needs.AimsTo investigate diagnosed depression and sociodemographic factors as predictors of mortality in patients with dementia in UK secondary clinical care services.MethodWe conducted a cohort study of patients with a dementia diagnosis in an electronic health records database in a UK National Health Service mental health trust.ResultsIn 3374 patients with 10 856 person-years of follow-up, comorbid depression was not associated with mortality (adjusted hazard ratio 0.94; 95% CI 0.71–1.24). Single patients had higher mortality than those who were married (adjusted hazard ratio 1.25; 95% CI 1.03–1.50). Patients of Asian ethnicity had lower mortality rates than White British patients (adjusted hazard ratio 0.50; 95% CI 0.34–0.73).ConclusionsClinically diagnosed depression does not increase mortality in patients with dementia. Patients who are single are a potential high-mortality risk group. Lower mortality rates in Asian patients with dementia that have been reported in the USA also apply in the UK.Declaration of interestNone.
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- 2018
10. Physicians' self-reported practice behaviour regarding fertility-related discussions in paediatric oncology in Sweden
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Gabriela M. Armuand, Claudia Lampic, Kenny A. Rodriguez-Wallberg, Johan Arvidson, Lena Wettergren, Johan Malmros, and Jan-Åke Nilsson
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Male ,Health Knowledge, Attitudes, Practice ,Pediatric oncology ,Medical Oncology ,Logistic regression ,Pediatrics ,Care setting ,0302 clinical medicine ,Survey study ,Neoplasms ,Surveys and Questionnaires ,Fertility preservation ,Practice Patterns, Physicians' ,Child ,Cancer ,media_common ,Potential impact ,030219 obstetrics & reproductive medicine ,Paediatric oncology ,Communication ,Fertility Preservation ,Pediatrik ,Public Health, Global Health, Social Medicine and Epidemiology ,Survey research ,Psychiatry and Mental health ,Oncology ,030220 oncology & carcinogenesis ,Papers ,Female ,Worry ,Paper ,medicine.medical_specialty ,Attitude of Health Personnel ,media_common.quotation_subject ,Reproduktionsmedicin och gynekologi ,Experimental and Cognitive Psychology ,Fertility ,03 medical and health sciences ,Obstetrics, Gynecology and Reproductive Medicine ,medicine ,Humans ,Sweden ,Cancer och onkologi ,business.industry ,Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ,Cross-Sectional Studies ,Physician ,Infertility ,Cancer and Oncology ,Family medicine ,business - Abstract
Objective The aim of this study was to investigate practice behaviours of Swedish physicians with regard to discussing the impact of cancer treatment on fertility with paediatric oncology patients and their parents, and to identify factors associated with such discussions. Methods A cross‐sectional survey study was conducted targeting all physicians in Sweden working in paediatric oncology care settings. Participants responded to a questionnaire measuring practice behaviour, attitudes, barriers, and confidence in knowledge. Multivariable logistic regression was used to determine factors associated with seldom discussing fertility. Results More than half of the physicians routinely talked with their patients/parents about the treatment's potential impact on fertility (male patients: 62%; female patients: 57%; P = 0.570). Factors associated with less frequently discussing fertility with patients/parents were working at a non‐university hospital (male patients: OR 11.49, CI 1.98–66.67; female patients: OR 33.18, CI 4.06–271.07), concerns that the topic would cause worry (male patients: OR 8.23, CI 1.48–45.89; female patients: OR 12.38, CI 1.90–80.70), and perceiving the parents as anxious (male patients: OR 7.18, CI 1.20–42.85; female patients: OR 11.65, CI 1.32–103.17). Conclusions Based on our findings, we recommend structured training in how to communicate about fertility issues in stressful situations, which in turn might increase fertility‐related discussions in paediatric oncology.
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- 2017
11. Use of an Automated Nested Multiplex Respiratory Pathogen PCR Panel Postmortem in the Pediatric Forensic Setting†
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Cynthia A. Schandl, Susan Erin Presnell, Tiffany G. Baker, Frederick S. Nolte, Nicholas Batalis, and D O James Madory
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Paper ,Male ,pediatrics ,Rhinovirus ,forensic science ,respiratory syncytial virus ,Biology ,medicine.disease_cause ,Pathology and Forensic Medicine ,Adenoviridae ,03 medical and health sciences ,0302 clinical medicine ,respiratory infection ,030225 pediatrics ,Multiplex polymerase chain reaction ,Genetics ,medicine ,Humans ,Multiplex ,030216 legal & forensic medicine ,Respiratory system ,Child ,Forensic Pathology ,Respiratory Tract Infections ,Cause of death ,nested polymerase chain reaction ,Enterovirus ,Retrospective Studies ,Infant, Newborn ,Respiratory infection ,Infant ,Pathology/Biology ,adenovirus ,Coronavirus ,Child, Preschool ,Respiratory Syncytial Virus, Human ,Immunology ,Papers ,DNA, Viral ,Female ,influenza ,Nested polymerase chain reaction ,Multiplex Polymerase Chain Reaction - Abstract
Respiratory pathogens have been detected in forensic investigations using multiple techniques; however, no study has examined the use of automated, nested, multiplex polymerase chain reaction (ANM‐PCR), commonly used in living patients, in the forensic setting. This retrospective study assessed the utility of ANM‐PCR in detecting respiratory pathogens in the pediatric forensic setting. Respiratory samples from 35 cases were tested for up to 20 respiratory pathogens. 51.4% of these cases yielded a positive ANM‐PCR result, 20% of which were considered the cause of or contributory to death. The most commonly detected pathogens were rhinovirus/enterovirus and respiratory syncytial virus, and these were the only pathogens determined to play a significant role in cause of death. The sampled sites and postmortem intervals tested did not affect the likelihood of a positive or negative test. ANM‐PCR panels are effective, affordable, and rapid ancillary tools in evaluating cause of death in the forensic pediatric population.
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- 2017
12. Distribution of cocaine on banknotes in general circulation in England and Wales
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Amy Wilson, B.E.M. Morgan, Colin Aitken, Richard Sleeman, and J. Huish
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Narcotics ,Paper ,Likelihood Functions ,Pediatrics ,medicine.medical_specialty ,Wales ,business.industry ,010401 analytical chemistry ,Distribution (economics) ,01 natural sciences ,0104 chemical sciences ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Geography ,Cocaine ,England ,Regional variation ,General Circulation Model ,Regional science ,medicine ,Humans ,030216 legal & forensic medicine ,business ,Law - Abstract
A study of the quantities of cocaine on banknotes in general circulation was conducted to investigate regional variations across England and Wales. No meaningful support was found for the proposition that there is regionalvariation in the quantities of cocaine in banknotes in general circulation in England and Wales.
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- 2017
13. Changes in diagnosis rates and behavioural traits of autism spectrum disorder over time
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Susan E. Kelly, Stephan Collishaw, Tamsin Ford, Ginny Russell, and Jean Golding
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Paper ,education.field_of_study ,medicine.medical_specialty ,Pediatrics ,Incidence (epidemiology) ,Population ,medicine.disease ,Odds ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,Autism spectrum disorder ,030225 pediatrics ,Relative risk ,mental disorders ,Cohort ,medicine ,030212 general & internal medicine ,education ,Psychology ,Psychiatry - Abstract
BackgroundThe increased proportion of UK children diagnosed with autism spectrum disorder (ASD) has been attributed to improved identification, rather than true increase in incidence.AimTo explore whether the proportion of children with diagnosis of ASD and/or the proportion with associated behavioural traits had increased over a 10-year period.MethodA cross-cohort comparison using regression to compare prevalence of diagnosis and behavioural traits over time. Participants were children aged 7 years assessed in 1998/1999 (n=8139) and 2007/2008 (n=13831).ResultsDuring 1998/1999, 1.09% (95% CI 0.86–1.37) of children were reported as having ASD diagnosis compared with 1.68% (95% CI 1.42–2.00) in 2007/2008: risk ratio (RR)=1.55 (95% CI 1.17–2.06), P=0.003. The proportion of children in the population with behavioural traits associated with ASD was also larger in the later cohort: RR=1.61 (95% CI 1.35–1.92), PConclusionsIncreased ASD diagnosis may partially reflect increase in rates of behaviour associated with ASD and/or greater parent/teacher recognition of associated behaviours.
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- 2015
14. Characterization of bony anatomic regions in pediatric and adult healthy volunteers using diffuse optical spectroscopic imaging
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Anup Tank, Richard Gorlick, David S. Geller, Rui Yang, Darren Roblyer, Bang H. Hoang, and Hannah M. Peterson
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Adult ,Male ,Paper ,sex differences ,Future studies ,pediatrics ,Bone pathology ,Population ,Biomedical Engineering ,Bone Neoplasms ,Anatomic Site ,near-infrared ,bone ,01 natural sciences ,Bone and Bones ,Imaging ,010309 optics ,Biomaterials ,0103 physical sciences ,Healthy volunteers ,Humans ,Medicine ,Child ,education ,diffuse optics ,education.field_of_study ,Spectroscopy, Near-Infrared ,business.industry ,Optical Imaging ,Anatomy ,medicine.disease ,Healthy Volunteers ,Atomic and Molecular Physics, and Optics ,Total hemoglobin ,Electronic, Optical and Magnetic Materials ,translational research ,tissue spectroscopy ,Oxyhemoglobins ,Osteosarcoma ,Female ,Sarcoma ,in vivo imaging ,business - Abstract
Significance: Diffuse optical spectroscopic imaging (DOSI) measures quantitative functional and molecular information in thick tissue in a noninvasive manner using near-infrared light. DOSI may be useful for diagnosis and prognosis of bone pathologies including osteosarcoma and Ewing’s sarcoma, but little is currently known about DOSI-derived parameters in bony anatomic locations where this disease occurs. Aim: Our goal is to quantify the optical characteristics and chromophore content of bony anatomic locations of healthy volunteers and assess differences due to anatomic region, age, sex, ethnicity, race, and body fat. Approach: Fifty-five healthy volunteers aged 4 to 72 were enrolled in the study. The optical properties and quantitative tissue concentrations of oxyhemoglobin, deoxyhemoglobin, water, and lipids were assessed at the distal humerus, distal femur, and proximal tibia. Body fat was assessed using skinfold calipers. One volunteer underwent a more comprehensive body scan from neck to foot to explore chromophore distributions within an individual. Regression analysis was used to identify the most important sources of variation in the measured data set. Results: Statistical differences between bony locations were found for scattering, water, and lipids, but not for hemoglobin. All chromophores had statistical differences with sex, but there were no significant age-related correlations. Regression analysis revealed that body fat measured with skinfold calipers was the most important predictor of oxy-, deoxy-, total hemoglobin, and lipids. Hemoglobin and lipid levels were highly correlated (ρ≥0.7) over the subject population and within the single-subject body scan. Conclusions: DOSI can successfully measure bony anatomic sites where osteosarcomas and Ewing’s sarcomas commonly occur. Future studies of bone pathology using DOSI should account for the variation caused by anatomic region, sex, race and ethnicity, and body fat as these cause substantial variations in DOSI-derived metrics.
- Published
- 2020
15. Survival analysis of 219 dogs with hyperadrenocorticism attending primary care practice in England
- Author
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David B. Church, Dan G. O’Neill, Imogen Schofield, David Brodbelt, Anna Wilson, and Stijn J. M. Niessen
- Subjects
Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Adrenocortical Hyperfunction ,040301 veterinary sciences ,Population ,Disease ,Primary care ,Cumulative survival ,survival ,0403 veterinary science ,Dogs ,medicine ,Animals ,VetCompass ,Dog Diseases ,education ,Survival analysis ,Retrospective Studies ,education.field_of_study ,electronicpatientrecords ,Endocrine disease ,General Veterinary ,Primary Health Care ,business.industry ,primary-care ,0402 animal and dairy science ,hyperadrenocorticism ,Retrospective cohort study ,Dihydrotestosterone ,04 agricultural and veterinary sciences ,General Medicine ,medicine.disease ,Prognosis ,040201 dairy & animal science ,Survival Analysis ,England ,Female ,business ,Median survival - Abstract
Background Hyperadrenocorticism is an endocrine disease routinely encountered within primary care practice; however, few studies evaluating survival beyond diagnosis have studied this population. Methods This retrospective cohort study analysed the electronic patient records of 219 cases of hyperadrenocorticism from a sample of dogs attending primary care practices in England. Kaplan-Meier plots examined the cumulative survival and Cox proportional hazard regression modelling identified factors associated with the hazard of all-cause mortality. Results In the analysis, 179/219 (81.7 per cent) hyperadrenocorticism cases died during the study period with a median survival time from first diagnosis of 510 days (95% CI 412 to 618 days). Trilostane was used in 94.1 per cent of cases and differentiation between pituitary-dependent and adrenal-dependent disease was made in 20.1 per cent of cases. In the multivariable analysis, dogs weighing greater than or equal to 15 kg (HR 1.51, 95% CI 1.06 to 2.15, P=0.023) and those diagnosed greater than or equal to 13 years of age (HR 3.74, 95% CI 2.29 to 6.09, P
- Published
- 2018
16. A Paper-Based Test for Screening Newborns for Sickle Cell Disease
- Author
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Maria Paz Noli, Silvina Kahan, Alex George, Joao F. Camanda, Sonia Simón Serrano, Gladstone Airewele, Damian Nirenberg, Maria Rosa Lanzi, Sergey S. Shevkoplyas, Palka R. Patel, and Nathaniel Z. Piety
- Subjects
Paper ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Diagnostic methods ,Anemia ,Hemoglobin, Sickle ,Anemia, Sickle Cell ,Disease ,Article ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Limit of Detection ,medicine ,Humans ,Sulfites ,030212 general & internal medicine ,Sickle Hemoglobin ,Newborn screening ,Multidisciplinary ,business.industry ,Infant, Newborn ,Paper based ,Saponins ,medicine.disease ,3. Good health ,Test (assessment) ,030104 developmental biology ,Solubility ,Cohort ,Isoelectric Focusing ,business - Abstract
The high cost, complexity and reliance on electricity, specialized equipment and supplies associated with conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and other resource-limited areas worldwide. Here we describe the development of a simple, low-cost, rapid, equipment- and electricity-free paper-based test capable of detecting sickle hemoglobin (HbS) in newborn blood samples with a limit of detection of 2% HbS. We validated this newborn paper-based test in a cohort of 159 newborns at an obstetric hospital in Cabinda, Angola. Newborn screening results using the paper-based test were compared to conventional isoelectric focusing (IEF). The test detected the presence of HbS with 81.8% sensitivity and 83.3% specificity, and identified SCD newborns with 100.0% sensitivity and 70.7% specificity. The use of the paper-based test in a two-stage newborn screening process could have excluded about 70% of all newborns from expensive confirmatory testing by IEF, without missing any of the SCD newborns in the studied cohort. This study demonstrates the potential utility of the newborn paper-based test for reducing the overall cost of screening newborns for SCD and thus increasing the practicality of universal newborn SCD screening programs in resource-limited settings.
- Published
- 2017
17. Gestational vitamin D deficiency and autism spectrum disorder
- Author
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Claudia J. Kruithof, Laura M. E. Blanken, John J. McGrath, Frank C. Verhulst, Vincent W. V. Jaddoe, Tonya White, Darryl W. Eyles, Thomas H. J. Burne, Anna A. E. Vinkhuyzen, Henning Tiemeier, Erasmus MC other, Epidemiology, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, and Pediatrics
- Subjects
0301 basic medicine ,Paper ,Pediatrics ,medicine.medical_specialty ,business.industry ,Odds ratio ,medicine.disease ,Confidence interval ,vitamin D deficiency ,3. Good health ,03 medical and health sciences ,Psychiatry and Mental health ,030104 developmental biology ,0302 clinical medicine ,Autism spectrum disorder ,mental disorders ,medicine ,Vitamin D and neurology ,Autism ,Gestation ,Risk factor ,business ,030217 neurology & neurosurgery - Abstract
BackgroundThere is growing interest in linking vitamin D deficiency with autism spectrum disorders (ASDs). The association between vitamin D deficiency during gestation, a critical period in neurodevelopment, and ASD is not well understood.AimsTo determine the association between gestational vitamin D status and ASD.MethodBased on a birth cohort (n=4334), we examined the association between 25-hydroxyvitamin D (25OHD), assessed from both maternal mid-gestation sera and neonatal sera, and ASD (defined by clinical records; n=68 cases).ResultsIndividuals in the 25OHD-deficient group at mid-gestation had more than twofold increased risk of ASD (odds ratio (OR)=2.42, 95% confidence interval (CI) 1.09 to 5.07, P=0.03) compared with the sufficient group. The findings persisted in analyses including children of European ethnicity only.ConclusionsMid-gestational vitamin D deficiency was associated with an increased risk of ASD. Because gestational vitamin D deficiency is readily preventable with safe, inexpensive and readily available supplementation, this risk factor warrants closer scrutiny.
- Published
- 2017
18. Clinical signs and mortality of non-released stranded California sea lions housed in display facilities: the suspected role of prior exposure to algal toxins
- Author
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Teresa K. Rowles, Frances M. D. Gulland, Deborah Fauquier, Sophie Dennison, Peter F. Cook, Jennifer Skidmore, Claire A. Simeone, and Kathleen M. Colegrove
- Subjects
Paper ,medicine.medical_specialty ,Pediatrics ,040301 veterinary sciences ,Disease ,survival ,Algal bloom ,public display ,0403 veterinary science ,chemistry.chemical_compound ,Epilepsy ,Seizures ,Epidemiology ,medicine ,Animals ,Sea lion ,Kainic Acid ,General Veterinary ,business.industry ,neurologic ,Medical record ,0402 animal and dairy science ,Domoic acid ,04 agricultural and veterinary sciences ,General Medicine ,medicine.disease ,040201 dairy & animal science ,United States ,Sea Lions ,chemistry ,domoic acid ,california sea lion ,Animals, Zoo ,Marine Toxins ,Histopathology ,business - Abstract
Stranded California sea lions considered unable to survive in the wild are often placed in public display facilities. Exposure to the biotoxin domoic acid (DA) is a common cause of stranding, and chronic effects are observed long after initial exposure. Medical records for 171 sea lions placed in US institutions between 2000 and 2016 were reviewed, including results from clinical examinations, histopathology, behavioural testing and advanced imaging. There was a statistically significant increase in neurological disease detected in neonates (24%) compared with other age classes (11%). Sixty per cent of all neurological cases died during the study period. In the 11 neurological neonate cases, six died (55%) and five are still alive with three of five developing epilepsy during placement. Of the six neurological neonate cases that died, one was attributed to DA toxicosis, one to seizures and four to acute unexplained neurological disease. This survey suggests delayed neurological disease can develop in sea lions after stranding as neonates. These data coupled with stranding records and epidemiological data on DA-producing algal blooms suggest further research into effects of neonatal exposure to DA on risk of neurological disease in later life is warranted. California sea lions offer a natural model of DA exposure to study such effects.
- Published
- 2019
19. Control of Allergic Rhinitis and Asthma Test (CARAT): dissemination and applications in primary care
- Author
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Pedro Azevedo, Tiago Jacinto, Miguel Román-Rodrígues, Vanessa Garcia-Larsen, Luís Nogueira-Silva, Jean Bousquet, Ana Margarida Pereira, Ioanna Tsiligianni, Bárbara G Silva, Pascal Demoly, Barbara P. Yawn, Thys van der Molen, Mário Morais-Almeida, João Fonseca, Tari Haahtela, Hakan Yaman, Stefano Del Giacco, António Bugalho-Almeida, Jaime Correia-de-Sousa, Universidade do Minho, and Groningen Research Institute for Asthma and COPD (GRIAC)
- Subjects
Discussion Paper ,Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Pediatrics ,Rhinitis, Allergic, Perennial ,Alternative medicine ,Information Dissemination ,MEDLINE ,Dissemination ,Audit ,cultural adaptation ,dissemination ,VALIDATION ,Cultural adaptation ,03 medical and health sciences ,rhinitis ,0302 clinical medicine ,Surveys and Questionnaires ,Control ,Health care ,medicine ,Humans ,030212 general & internal medicine ,Rhinitis ,Asthma ,OUTCOMES ,Carat ,Science & Technology ,Primary Health Care ,Questionnaire ,business.industry ,questionnaire ,Public Health, Environmental and Occupational Health ,asthma ,medicine.disease ,Rhinitis, Allergic ,3. Good health ,RESEARCH NEEDS ,030228 respiratory system ,General partnership ,Family medicine ,PAPER ,TRANSLATION ,business ,control - Abstract
Asthma frequently occurs in association with allergic rhinitis and a combined management approach has been suggested. The Control of Allergic Rhinitis and Asthma Test (CARAT) is the first questionnaire to assess control of both diseases concurrently. However, to have an impact on healthcare it needs to be disseminated and adopted. In this paper we discuss the dissemination of CARAT in different countries and its possible applications in primary care. At present, the adaptation of CARAT for use in different languages and cultures is being led by volunteer researchers and clinicians in 15 countries. Website and smartphone applications have been developed, and a free open model of distribution was adopted to contribute to the dissemination of CARAT. Examples of dissemination activities include distribution of leaflets and posters, educational sessions on the use of the questionnaire in the follow-up of patients, development of clinical studies, collaborations with professional organisations and health authorities, and the inclusion of CARAT in clinical guidelines. The adoption of innovations is an important challenge in healthcare today, and research on the degree of success of dissemination strategies using suitable methods and metrics is much needed. We propose that CARAT can be used in a range of settings and circumstances in primary care for clinical, research and audit purposes, within the overall aim of increasing awareness of the level of disease control and strengthening the partnership between patients and doctors in the management of asthma and rhinitis., No specific funding was received for writing this paper. The CARAT project has received unrestricted grants from Sociedade Portuguese de Alergologia e Imunologia Clinica, Merck Sharp Dohme Portugal and Associacao Portuguese de Asmaticos e Alergicos.
- Published
- 2013
20. VACTERL-H Association and Fanconi Anemia
- Author
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B.P. Alter and P.S. Rosenberg
- Subjects
Paper ,medicine.medical_specialty ,education.field_of_study ,Pediatrics ,business.industry ,Genetic counseling ,Population ,Cancer ,medicine.disease ,digestive system ,Gastroenterology ,digestive system diseases ,FANCA ,FANCB ,Fanconi anemia ,Internal medicine ,Genotype ,FANCD2 ,Genetics ,medicine ,business ,education ,Genetics (clinical) - Abstract
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to 2012 identified 108 cases with at least 3 of the defining features of VATER association; only 29 had been so noted by the authors. The FA VATER signature was the significantly higher frequency of renal and limb (radial and/or thumb) anomalies (93% of cases had both) compared with less than 30% of VATER patients; the presence of one or both of these birth defects should lead to testing for FA. The relative frequencies of the genotypes of the patients with FA VATER were strikingly different from those expected from the general FA population; only 19% were FANCA, while 21% were FANCB, 14% FANCD1/BRCA2, and 12% FANCD2. Consistent with their genotypes, those with the FA VATER phenotype had a worse prognosis than FA patients with milder phenotypes, with shorter median survival and earlier onset of malignancies. The early identification of FA patients among infants with VATER association should lead to earlier more proactive management, such as cancer surveillance and genetic counseling.
- Published
- 2012
21. School-based brief psycho-educational intervention to raise adolescent cancer awareness and address barriers to medical help-seeking about cancer: A cluster randomised controlled trial
- Author
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Ronan E. O'Carroll, Gill Hubbard, Richard D Neal, Iona Stoddart, Richard G Kyle, Petra Rauchhaus, Liz Forbat, and Sally Haw
- Subjects
Paper ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Alternative medicine ,Psychological intervention ,Experimental and Cognitive Psychology ,Overweight ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,Risk Factors ,law ,Neoplasms ,Intervention (counseling) ,medicine ,Humans ,030212 general & internal medicine ,Cluster randomised controlled trial ,Health Education ,School Health Services ,Self-efficacy ,business.industry ,Communication ,Cancer ,Awareness ,medicine.disease ,Self Efficacy ,United Kingdom ,Psychiatry and Mental health ,Socioeconomic Factors ,Oncology ,Adolescent Behavior ,030220 oncology & carcinogenesis ,Family medicine ,Papers ,Female ,medicine.symptom ,business - Abstract
Objectives Raising cancer awareness and addressing barriers to help-seeking may improve early diagnosis. The aim was to assess whether a psycho-educational intervention increased adolescents' cancer awareness and addressed help-seeking barriers. Methods This was a cluster randomised controlled trial involving 2173 adolescents in 20 schools. The intervention was a 50-min presentation delivered by a member of Teenage Cancer Trust's (UK charity) education team. Schools were stratified by deprivation and roll size and randomly allocated to intervention/control conditions within these strata. Outcome measures were the number of cancer warning signs and cancer risk factors recognised, help-seeking barriers endorsed and cancer communication. Communication self-efficacy and intervention fidelity were also assessed. Results Regression models showed significant differences in the number of cancer warning signs and risk factors recognised between intervention and control groups. In intervention schools, the greatest increases in recognition of cancer warning signs at 6-month follow-up were for unexplained weight loss (from 44.2% to 62.0%) and change in the appearance of a mole (from 46.3% to 70.7%), up by 17.8% and 24.4%, respectively. Greatest increases in recognition of cancer risk factors were for getting sunburnt more than once as a child (from 41.0% to 57.6%) and being overweight (from 42.7% to 55.5%), up by 16.6% and 12.8%, respectively. Regression models showed that adolescents in intervention schools were 2.7 times more likely to discuss cancer at 2-week follow-up compared with the control group. No differences in endorsement of barriers to help-seeking were observed. Conclusions School-based brief psycho-educational interventions are easy to deliver, require little resource and improve cancer awareness. © 2015 The Authors. Psycho-Oncology published by John Wiley & Sons Ltd.
- Published
- 2016
22. Clinical Approach to Diagnosis of Pre-Dementia Alzheimer's Disease (CAD-PAD)
- Author
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S. Fajardo, I. Llinares, and J. Alom
- Subjects
Paper ,medicine.medical_specialty ,Pediatrics ,Cognitive Neuroscience ,Neuropsychology ,CAD ,Disease ,lcsh:Geriatrics ,Alzheimer's disease ,medicine.disease ,Logistic regression ,lcsh:RC346-429 ,Clinical diagnosis ,Psychiatry and Mental health ,lcsh:RC952-954.6 ,medicine ,History of depression ,Pre-dementia ,Dementia ,Prospective cohort study ,Psychiatry ,Psychology ,Alzheimer’s disease ,lcsh:Neurology. Diseases of the nervous system - Abstract
Objective: Our aim was to evaluate clinical and neuropsychological features to identify pre-dementia Alzheimer’s disease (PAD) among mild cognitive impairment (MCI) patients. Methods: A longitudinal prospective study of 89 consecutive patients affected with MCI was conducted. Clinical evaluation consisted of a clinical interview protocol, neuropsychological evaluation, standard laboratory tests, and CT scan. A 6-month clinical check-up was made to determine whether patients remained in MCI, improved or progressed to AD or another dementia. Results: At 3-year follow-up, 47% patients developed AD dementia. Seventeen variables were significant and were evaluated by logistic regression analysis to identify the remaining optimal diagnostic criteria: age, gender, repeating comments, difficulties in understanding explanations, time of symptom evolution, history of depression, and word fluency (with animals) were identified with a sensitivity of 100% and a specificity of 93%. A computer application was developed with all these variables which we have named Clinical Approach to Diagnosis of PAD (CAD-PAD). Conclusions: These results suggest that CAD-PAD can help in the clinical diagnosis of PAD.
- Published
- 2012
23. Results of the Screening program for congenital hypothyroidism in Berlin (1978–1995)
- Author
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Zapico M, Annette Grüters, Dütting C, Pfeiffer E, Lehmkuhl U, K P Liesenkötter, and Jenner A
- Subjects
Male ,Paper ,endocrine system ,Pediatrics ,medicine.medical_specialty ,Goiter ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Thyroid Gland ,Thyrotropin ,Thyroglobulin ,Neonatal Screening ,Endocrinology ,Hypothyroidism ,Congenital Hypothyroidism ,Internal Medicine ,medicine ,Humans ,Ultrasonography ,Intelligence Tests ,Intelligence quotient ,business.industry ,Thyroid ,Infant, Newborn ,General Medicine ,medicine.disease ,Congenital hypothyroidism ,Berlin ,Thyroxine ,medicine.anatomical_structure ,Etiology ,Female ,Thyroid function ,business ,Hormone - Abstract
Screening for congenital hypothyroidism for all newborns of the former western parts of the city of Berlin was instituted in 1978 by determination of the TSH levels in dried filter paper blood spots of the 3rd to 5th day of life. Since 1991 the newborns of the former eastern parts have been also included in the same screening program. From 1978 to 1995 a total number of 104 newborns with permanent congenital hypothyroidism have been detected resulting in a prevalence of congenital hypothyroidism of 1:3800. The etiological diagnosis of hypothyroidism was made by imaging studies (ultrasonography or 99mTc scintigraphy) and assessment of serum thyroglobulin and thyroid hormone levels. Using this approach in 37 children (30 female, 7 male) the diagnosis of athyrosis, in 20 children (15 female, 5 male) the diagnosis of ectopy and in 21 children (18 female, 3 male) the diagnosis of thyroid hypoplasia was made, 16 children (8 female, 8 male) had a normally sized gland and 4 (1 female, 3 male) had congenital goiter. In 86% of all patients the age at onset of thyroxine (L-T4) replacement therapy was 8 or 9 days of life (3-42 days) and the median initial L-T4 dose was 14 micrograms/kg/day (10-16 micrograms/kg/day). The intellectual outcome of 77 children (2-16 years) was studied and normal scores for the intelligence (IQ) and developmental (DQ) quotients were found in 71 (92%). Outcome was not correlated to the age at onset of treatment, the initial dose and the severity of hypothyroidism, but there was a positive correlation of the socioeconomic status of the family and the IQ of the patients. The results of the screening program in Berlin document that an early and efficient thyroxine replacement can normalize the intellectual outcome of patients with congenital hypothyroidism independent of the severity of the disease as assessed by the residual thyroid function detectable at diagnosis.
- Published
- 2009
24. Buccal Swabs and Treated Cards: Methodological Considerations for Molecular Epidemiologic Studies Examining Pediatric Populations
- Author
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Sara M. Beckett, Glenn M. Marshall, Richard J. Cohn, Geoffrey McCowage, Elizabeth Milne, Luciano Dalla Pozza, Lesley J. Ashton, and Stephen J. Laughton
- Subjects
Male ,Paper ,Pathology ,medicine.medical_specialty ,Genotype ,Epidemiology ,Buccal swab ,Single-nucleotide polymorphism ,Pediatrics ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Specimen Handling ,law.invention ,chemistry.chemical_compound ,law ,Humans ,Medicine ,Child ,Genotyping ,Polymerase chain reaction inhibitors ,Polymerase chain reaction ,Molecular Epidemiology ,Molecular epidemiology ,business.industry ,Mouth Mucosa ,DNA ,Sequence Analysis, DNA ,Buccal administration ,Molecular biology ,Cheek ,chemistry ,Female ,business ,Nucleic Acid Amplification Techniques - Abstract
Self-collection of buccal cells provides a noninvasive method for obtaining biologic samples for genetic analyses in pediatric studies. Nevertheless, low yields, microbial contamination, and degradation of buccal samples present challenges for epidemiologic studies incorporating genetic investigations. The aims of this study were to compare the quality and yield of DNA extracted from buccal specimens with BuccalAmp swabs (Epicenter BioTechnologies, Madison, Wisconsin) or FTA cards (Whatman, Inc., Clifton, New Jersey) and to investigate the use of whole-genome amplification (WGA) for increasing DNA yields for single nucleotide polymorphism analyses. Buccal specimens were collected from 55 children with acute lymphoblastic leukemia and 52 control children without acute lymphoblastic leukemia in New South Wales, Australia, in 2003-2004. Real-time polymerase chain reaction was used to evaluate polymorphisms in the genes encoding the cytochrome p450 enzyme CYP3A4 (CYP3A4 A392G, also known as CYP3A4*1B) and the steroid xenobiotic receptor (SXR C25385T). Results showed that DNA could be isolated from buccal specimens collected by use of both methods and that yields could be substantially improved with WGA without introducing genotyping error. However, DNA quality was poorer in samples collected by BuccalAmp swabs, and the presence of polymerase chain reaction inhibitors in these samples reduced the sensitivity of quantitative real-time PCR analysis. These findings show that different methods for collecting buccal samples impact on the downstream success of genetic investigations and influence DNA quality after WGA.
- Published
- 2008
25. Idiopathic chronic inflammatory demyelinating polyneuropathy: an epidemiological study in Italy
- Author
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C. Buffa, Adriano Chiò, Federica Plano, Edo Bottacchi, Andrea Calvo, Roberto Mutani, Dario Cocito, and Maurizio Leone
- Subjects
Male ,Paper ,medicine.medical_specialty ,Pediatrics ,Biopsy ,chronic inflammatory demyelinating polyneuropathy ,CIDP ,epidemiology ,Population ,Prevalence ,Chronic inflammatory demyelinating polyneuropathy ,Severity of Illness Index ,Disability Evaluation ,Age Distribution ,Catchment Area, Health ,Sural Nerve ,Severity of illness ,Epidemiology ,medicine ,Humans ,Sex Distribution ,education ,Aged ,education.field_of_study ,business.industry ,Incidence ,Incidence (epidemiology) ,Polyradiculoneuropathy ,Middle Aged ,medicine.disease ,Surgery ,Psychiatry and Mental health ,Italy ,Polyradiculoneuropathy, Chronic Inflammatory Demyelinating ,Disease Progression ,Female ,Neurology (clinical) ,business ,Polyneuropathy - Abstract
Aim: The clinical and epidemiological characteristics of chronic inflammatory demyelinating polyneuropathy (CIDP) in an Italian population were assessed. Subjects and methods: All subjects with a diagnosis of demyelinating neuropathy after 1990 in Piemonte and Valle d’Aosta (4 334 225 inhabitants) were considered. The diagnosis of CIDP was based on the research criteria of the American Academy of Neurology. 165 of 294 patients met the diagnostic criteria. Results: The crude prevalence rate was 3.58/100 000 population (95% CI 3.02 to 4.20). At the prevalence day, 76 (49.0%) cases had definite, 67 (43.2%) probable and 12 (7.7%) possible CIDP; disability was mild in 105 (67.7%) cases, moderate in 32 (20.6%) and severe in 18 (11.6%). The course was remitting–relapsing in 40 cases (25.8%), chronic progressive in 96 (61.9%) and monophasic in 19 (12.3%). Considering the 95 patients whose disorder presented in the period 1995–2001, the mean annual crude incidence rate was 0.36/100 000 population (95% CI 0.29 to 0.44), with a male to female ratio of 2.3:1. 14 cases were affected by diabetes mellitus. In multivariate analysis, factors related to severe disability at the prevalence day were: age>60 years; failure of immunomodulating therapies at the time of diagnosis; worse disability at nadir; and chronic course. Conclusion: Incidence and prevalence rates of CIDP in Italy were higher than those observed in most previous studies. At the prevalence day, more than 80% of cases had a mild or moderate disability, indicating either a good response to immunomodulating therapy or a tendency of CIDP to have a mild course in most cases.
- Published
- 2007
26. Familial occurrence of brain arteriovenous malformations: a systematic review
- Author
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L.J. Kappelle, H B van der Worp, J. van Beijnum, O. van Nieuwenhuizen, J W Berkelbach van der Sprenkel, H M Schippers, G. J. E. Rinkel, and Catharina J.M. Klijn
- Subjects
Paper ,Adult ,Intracranial Arteriovenous Malformations ,Male ,Pediatrics ,medicine.medical_specialty ,Younger age ,Adolescent ,Population ,Transforming Growth Factor beta ,medicine ,Humans ,Reference population ,Child ,education ,Telangiectasia ,education.field_of_study ,Anticipation, Genetic ,business.industry ,Infant ,Mean age ,Middle Aged ,Confidence interval ,Psychiatry and Mental health ,Child, Preschool ,Anticipation (genetics) ,Female ,Telangiectasia, Hereditary Hemorrhagic ,Surgery ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Background: Brain arteriovenous malformations (BAVMs) are thought to be sporadic developmental vascular lesions, but familial occurrence has been described. We compared characteristics of patients with familial BAVMs with those of patients with sporadic BAVMs. Methods: We systematically reviewed the literature on patients with familial BAVMs. Three families that were found in our centre were added. Age, sex distribution and clinical presentation of the identified patients were compared with those in population-based series of patients with sporadic BAVMs. Furthermore, we calculated the difference in mean age at diagnosis of parents and children to study possible anticipation. Results: We identified 53 patients in 25 families with BAVMs. Mean age at diagnosis of patients with familial BAVMs was 27 years (range 9 months-58 years), which was younger than in the reference population (difference between means 8 years, 95% confidence interval (CI) 3-13 years). Patients with familial BAVMs did not differ from the reference populations with respect to sex and mode of presentation. In families with BAVMs in successive generations, the age of the child at diagnosis was younger than the age of the parent (difference between means 22 years, 95% CI 13-30 years), which suggests clinical anticipation. Conclusions: Few patients with familial BAVMs have been described. These patients were diagnosed at younger age than sporadic BAVMs whereas their mode of presentation was similar. Although there are indications of anticipation, it remains as yet unclear whether the described families represent accidental aggregation or indicate true familial occurrence of BAVMs.
- Published
- 2007
27. Cognitive outcome in adults after bacterial meningitis
- Author
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Diederik van de Beek, Martijn Weisfelt, Jan de Gans, Martine Hoogman, Ben Schmand, AII - Amsterdam institute for Infection and Immunity, ANS - Amsterdam Neuroscience, Neurology, AMS - Amsterdam Movement Sciences, and Brein en Cognitie (Psychologie, FMG)
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Comorbidity ,Meningitis, Meningococcal ,Neuropsychological Tests ,Dexamethasone ,Cognitive neurosciences [UMCN 3.2] ,Odds Ratio ,Perception and Action [DCN 1] ,medicine ,Humans ,Glasgow Coma Scale ,Age of Onset ,Sex Distribution ,Analysis of Variance ,Meningitis, Pneumococcal ,business.industry ,Cognition ,Odds ratio ,Middle Aged ,medicine.disease ,Cranial Nerve Diseases ,Causality ,Psychiatry and Mental health ,Immunology ,Female ,Surgery ,Bacterial meningitis ,Neurology (clinical) ,Age of onset ,Cognition Disorders ,business ,Meningitis ,medicine.drug - Abstract
Contains fulltext : 51936.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To evaluate cognitive outcome in adult survivors of bacterial meningitis. METHODS: Data from three prospective multicentre studies were pooled and reanalysed, involving 155 adults surviving bacterial meningitis (79 after pneumococcal and 76 after meningococcal meningitis) and 72 healthy controls. RESULTS: Cognitive impairment was found in 32% of patients and this proportion was similar for survivors of pneumococcal and meningococcal meningitis. Survivors of pneumococcal meningitis performed worse on memory tasks (p
- Published
- 2007
28. Prospective comparison of acute confusion severity with duration of post-traumatic amnesia in predicting employment outcome after traumatic brain injury
- Author
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Mark Sherer, Risa Nakase-Richardson, and Stuart A. Yablon
- Subjects
Paper ,Adult ,Employment ,Male ,Pediatrics ,medicine.medical_specialty ,Traumatic brain injury ,Amnesia ,Poison control ,Severity of Illness Index ,Predictive Value of Tests ,Injury prevention ,medicine ,Humans ,Memory disorder ,Prospective Studies ,Confusion ,Psychiatry ,Post-traumatic amnesia ,Cognitive disorder ,Prognosis ,medicine.disease ,Psychiatry and Mental health ,nervous system ,Brain Injuries ,Acute Disease ,Delirium ,Female ,Surgery ,Neurology (clinical) ,medicine.symptom ,Psychology - Abstract
Background: Measurement of the duration of post-traumatic amnesia (PTA) is common practice, serving as an important index of the severity of traumatic brain injury (TBI) and a predictor of functional outcome. However, controversy exists regarding the nature of PTA; some studies indicate that it is a confusional state with symptoms that extend beyond disorientation and amnesia. Objective: To evaluate the contribution of the severity of acute confusion 1 month after TBI to prediction of employment at 1 year after injury, comparing it with PTA duration. Methods: Prospective study involving 171 participants with complete data, who met the study criteria, from 228 consecutive TBI Model System admissions. Outcome measures included weekly administration of the Delirium Rating Scale-Revised-98 (DelRS-R98) to measure the severity of acute confusion. Evaluations closest to 1 month after injury were used for study purposes. Duration of PTA was defined as the interval from injury until two consecutive Galveston Orientation and Amnesia Test scores of ⩾76 were obtained within a period of 24–72 h. Univariable and multivariable logistic regression were used to predict employment status at 1 year after injury. Results: Age, education and DelRS-R98 were significant predictors accounting for 34% of outcome variance. Individuals with greater confusion severity at 1 month after injury, older age and lower levels of education were less likely to be employed at 1 year after injury. Severity of confusion was more strongly associated with employment outcome (r s = −0.39) than was PTA duration (r s = −0.34). Conclusions: In addition to demographic indices, severity of acute confusion makes a unique contribution to predicting late outcome after TBI.
- Published
- 2007
29. Movement disorders in patients taking anticonvulsants
- Author
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Cindy Zadikoff, Renato P. Munhoz, Richard A. Wennberg, N. Politzer, Peter L. Carlen, Abena Asante, and Anthony E. Lang
- Subjects
Paper ,Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Movement disorders ,Parkinson's disease ,Cross-sectional study ,medicine.medical_treatment ,Epilepsy ,Parkinsonian Disorders ,Risk Factors ,medicine ,Humans ,In patient ,Psychiatry ,Aged ,business.industry ,Valproic Acid ,Parkinsonism ,Single factor ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,Cross-Sectional Studies ,Anticonvulsant ,Anticonvulsants ,Female ,Surgery ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Background: A wide variety of movement disorders may occur as a consequence of the administration of antiepileptic drugs (AEDs). Although it has been suggested that the risk of parkinsonism is 10-fold higher in those taking valproate as compared with other AEDs, there have been no large, systematic trials assessing this. Aim: To establish more precisely the prevalence of and risk factors for developing parkinsonism associated with valproate use,and to assess the occurrence of movement disorders with the newer AEDs. Methods: Patients with epilepsy were recruited from the Toronto Western Hospital Epilepsy Clinic (University of Toronto, Toronto, Ontario, Canada). Each patient was examined by a movement disorder specialist who was blinded to the treatment status of the patient. Results: 201 patients were included. Postural tremor was the most common movement disorder (45%), followed by parkinsonism (4.5%). The odds of having parkinsonism were 5 times higher with valproate than with other AEDs. No single factor predicted the presence of parkinsonism; however, many (5/9) of the patients concurrently used other drugs or had comorbidities that could have caused or exacerbated parkinsonism. None of the newer AEDs were clearly associated with the presence of movement disorders; however, the numbers were too small to make a formal analysis. Conclusion: Although the risk of parkinsonism with valproate is higher than with other AEDs, it is lower than originally reported. The cases available were not enough to accurately comment on the prevalence of movement disorders with the newer AEDs.
- Published
- 2007
30. Internet-based guided self-help for parents of children on cancer treatment : A randomized controlled trial
- Author
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Martin Cernvall, Gustaf Ljungman, Per Carlbring, Lisa Ljungman, and Louise von Essen
- Subjects
Paper ,Adult ,Male ,Parents ,medicine.medical_specialty ,Adolescent ,Experimental and Cognitive Psychology ,Pediatrics ,law.invention ,Self-help ,Stress Disorders, Post-Traumatic ,Randomized controlled trial ,Internet based ,law ,Intervention (counseling) ,Neoplasms ,medicine ,cancer ,Humans ,Self report ,Child ,Internet ,business.industry ,Pediatrik ,Middle Aged ,posttraumatic stress ,Cancer treatment ,Psychiatry and Mental health ,Posttraumatic stress ,Child, Preschool ,Therapy, Computer-Assisted ,Papers ,oncology ,randomized controlled trial ,Physical therapy ,Feasibility Studies ,The Internet ,Female ,Self Report ,business ,internet‐based intervention ,Clinical psychology - Abstract
Objective The aim of the study was to investigate the feasibility and preliminary efficacy of an Internet‐based guided self‐help intervention for posttraumatic stress symptoms (PTSS) and related symptoms in parents of children on cancer treatment. Methods Parents of children on cancer treatment, who fulfilled the modified symptom criteria on the PTSD Checklist, were randomly allocated to the intervention or to a wait‐list control condition. The intervention group accessed a 10‐week guided self‐help program via the Internet based on principles from cognitve behavior therapy. The primary outcome PTSS and the secondary outcomes depression and anxiety were assessed by self‐report preintervention and postintervention. Results Seven hundred forty‐seven parents were approached and informed about the study, 92 were assessed for eligibility, and 58 were included and randomized to the intervention (n = 31) or wait list (n = 27). Eightteen participants completed the intervention. Intention‐to‐treat analyses indicated a significant effect of the intervention on PTSS with a large between‐group effect size at postassessment (Cohen's d = 0.88). The intervention group reported reductions in PTSS with a large within‐group effect size (d = 1.62) compared with a minimal reduction in the wait‐list group (d = 0.09). There was a significant intervention effect on depression and anxiety and reductions in the intervention group with large within‐group effect sizes (d = 0.85–1.09). Conclusions Findings indicate a low enrollment rate and considerable attrition but also that Internet‐based guided self‐help shows promise for parents of children on cancer treatment who report a high level of PTSS and would like to take part in an Internet‐based intervention. © 2015 The Authors. Psycho‐Oncology published by John Wiley & Sons, Ltd.
- Published
- 2015
31. Insomnia in Parkinson's disease: frequency and progression over time
- Author
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Tore Wentzel-Larsen, Dag Aarsland, Michaela D. Gjerstad, and Jan Petter Larsen
- Subjects
Paper ,Male ,Pediatrics ,medicine.medical_specialty ,Population ,Logistic regression ,Rating scale ,Sleep Initiation and Maintenance Disorders ,Prevalence ,medicine ,Insomnia ,Humans ,Longitudinal Studies ,Prospective Studies ,Prospective cohort study ,education ,Psychiatry ,Depression (differential diagnoses) ,Aged ,Aged, 80 and over ,education.field_of_study ,Sleep disorder ,Parkinsonism ,Parkinson Disease ,Middle Aged ,medicine.disease ,Dreams ,Psychiatry and Mental health ,Disease Progression ,Female ,Surgery ,Neurology (clinical) ,medicine.symptom ,Psychology - Abstract
Objectives: To examine the development of nocturnal sleeping problems in patients with Parkinson’s disease (PD) over an 8-year period and to study the clinical and demographic correlates of insomnia. Methods: 231 patients were included in a population-based prevalence study in 1993, and re-examined in 1997 and 2001. At all study visits, we applied semi-structured interviews to obtain information on clinical and demographic data, as well as on nocturnal sleeping problems. Standardised rating scales of parkinsonism, depression and cognitive impairment were used. The relationship between insomnia and demographic and clinical variables was analysed using population-averaged logistic regression models for correlated data. 231 patients were included at baseline, 142 were available for re-evaluation in 1997 and 89 patients in 2001. Results: Most nocturnal sleeping problems varied little in prevalence over time, whereas problems related to turning in bed and vivid dreaming or nightmares increased. Insomnia was present in 54–60% of the patients at each of the three study visits and varied considerably in individual patients over time. The presence of insomnia was closely related to disease duration, higher Montgomery–Asberg Depression Rating Scale scores and female sex. Conclusion: Insomnia is a highly frequent complaint in patients with PD. It fluctuates over time in individual patients, and its origin seems to be multifactorial. Physicians should be aware of the high prevalence of insomnia in patients with PD and should examine their patients for a possible coexisting depression.
- Published
- 2006
32. Adult onset subacute sclerosing panencephalitis: clinical profile of 39 patients from a tertiary care centre
- Author
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L.K. Prashanth, S Sinha, Arun B Taly, G. R. Arunodaya, and Vasanthapuram Ravi
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Adolescent ,India ,Antibodies, Viral ,Measles ,Subacute sclerosing panencephalitis ,Cohort Studies ,Hospitals, University ,Central nervous system disease ,Pregnancy ,medicine ,Humans ,Pregnancy Complications, Infectious ,Child ,Retrospective Studies ,Neurologic Examination ,business.industry ,Age Factors ,Infant, Newborn ,Pregnancy Outcome ,Brain ,Retrospective cohort study ,medicine.disease ,Surgery ,Psychiatry and Mental health ,Measles virus ,Cohort ,Female ,Topography, Medical ,Subacute Sclerosing Panencephalitis ,Neurology (clinical) ,medicine.symptom ,Tomography, X-Ray Computed ,business ,Myoclonus ,Follow-Up Studies ,Cohort study - Abstract
Clinical and laboratory characteristics of 39 patients with adult onset subacute sclerosing panencephalitis (SSPE) are described and compared to those of juvenile onset patients regarding preceding measles, age at onset, gender, interval between onset and diagnosis, clinical profile, and course during follow up. Diagnosis was based on clinical and electroencephalographic findings and raised anti-measles antibody titres in cerebrospinal fluid. Mean age at SSPE symptom onset was 20.9+/-4.9 years and mean interval from onset to diagnosis was 6.3+/-9.6 months. Referral diagnosis was accurate in only 12 patients. Presenting symptoms included myoclonus, behavioural changes, seizures, and cognitive, visual, and extrapyramidal disturbance. All patients received symptomatic therapy; 19 also received disease modifying agents. Five of seven pregnant women had successful deliveries. The follow-up period varied widely (maximum 60 months, median 9 months). The profile of adult onset SSPE did not differ from the rest of the cohort, except for a longer interval between measles infection and symptom onset (p
- Published
- 2006
33. Predictors of falls and fractures in bradykinetic rigid syndromes: a retrospective study
- Author
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David R. Williams, Hilary Watt, and Andrew J. Lees
- Subjects
Paper ,Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Parkinson's disease ,Poison control ,Hypokinesia ,Progressive supranuclear palsy ,Fractures, Bone ,medicine ,Humans ,Dementia ,Corticobasal degeneration ,Retrospective Studies ,Aged, 80 and over ,Hip fracture ,business.industry ,Dementia with Lewy bodies ,Incidence ,Parkinson Disease ,Middle Aged ,Multiple System Atrophy ,medicine.disease ,Surgery ,Psychiatry and Mental health ,Accidental Falls ,Female ,Supranuclear Palsy, Progressive ,Neurology (clinical) ,Age of onset ,Cognition Disorders ,business - Abstract
Background: Falls and fractures contribute to morbidity and mortality in bradykinetic rigid syndromes. Methods: The authors performed a retrospective case notes review at the Queen Square Brain Bank for Neurological Disorders and systematically explored the relation between clinical features and falls and fractures in 782 pathologically diagnosed cases (474 with Parkinson’s disease (PD); 127 progressive supranuclear palsy (PSP); 91 multiple system atrophy (MSA); 46 dementia with Lewy bodies (DLB); 27 vascular parkinsonism; nine Alzheimer’s disease; eight corticobasal degeneration). Results: Falls were recorded in 606 (77.5%) and fractures in 134 (17.1%). In PD, female gender, symmetrical onset, postural instability, and autonomic instability all independently predicted time to first fall. In PD, PSP, and MSA latency to first fall was shortest in those with older age of onset of disease. Median latency from disease onset to first fall was shortest in Richardson’s syndrome (12 months), MSA (42), and PSP-parkinsonism (47), and longest in PD (108). In all patients fractures of the hip were more than twice as common as wrist and forearm fractures. Fractures of the skull, ribs, and vertebrae occurred more frequently in PSP than in other diseases. Conclusion: Measures to prevent the morbidity associated with falls and fractures in bradykinetic rigid syndromes may be best directed at patients with the risk factors identified in this study.
- Published
- 2006
34. Calcified cysticercotic lesions and intractable epilepsy: a cross sectional study of 512 patients
- Author
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Charles L. Dalmagro, Marino Muxfeldt Bianchin, João Pereira Leite, Roger Walz, Tonicarlo Rodrigues Velasco, P A Zanello, Osvaldo Massaiti Takayanagui, Veriano Alexandre, David Araújo, Carlos Gilberto Carlotti, João Alberto Assirati, A.C. Santos, and Américo Ceiki Sakamoto
- Subjects
Paper ,Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Adolescent ,Neurocysticercosis ,Temporal lobe ,Central nervous system disease ,Epilepsy ,medicine ,Humans ,Outpatient clinic ,Child ,Demography ,Brain Diseases ,Sclerosis ,business.industry ,Incidence (epidemiology) ,Neurooncology ,Calcinosis ,Electroencephalography ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Temporal Lobe ,Surgery ,Psychiatry and Mental health ,Cross-Sectional Studies ,Etiology ,Female ,Neurology (clinical) ,business - Abstract
Neurocysticercosis is a major cause of epilepsy in developing countries and is endemic in Brazil. To test the hypothesis that the aetiological profile of patients with intractable epilepsy in Brazil includes neurocysticercosis, we conducted a cross sectional study investigating the aetiology of intractable epilepsy.A total of 512 patients evaluated at the outpatient clinic for intractable epilepsy at the Ribeirão Preto School of Medicine were included in the survey. Medical intractability was determined on the basis of seizure incidence and severity, and response to appropriate epilepsy management. Neuroimaging included brain CT with non-contrasted and contrasted phases and high resolution MRI. Patients were divided into neurocysticercosis and non-neurocysticercosis groups according to previous diagnostic criteria.The most common epileptogenic lesions were mesial temporal sclerosis (MTS; 56.0%), malformations of cortical development (12.1%), and brain tumours (9.9%). Neuroimaging was normal in 8.7% of patients. Calcifications were found in 27% of patients and were significantly more common in patients with MTS than in those without MTS (p0.001). Isolated neurocysticercosis was found in only eight patients (1.56%).These data suggest that neurocysticercosis is an uncommon cause of intractable epilepsy, even in an endemic region such as Brazil, and that it may only represent a coexistent pathology. However, an analysis of our findings reveals that neurocysticercosis was more common in patients with MTS. This finding could suggest either that there is a cause-effect relationship between MTS and neurocysticercosis, or that MTS and neurocysticercosis co-vary with a missing variable, such as socio-economic status.
- Published
- 2006
35. The safety of antiepileptic drug withdrawal in patients with non-epileptic seizures
- Author
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Mhairi Selkirk, Meritxell Oto, Anthony J. Pelosi, Colin A. Espie, and Roderick Duncan
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,viruses ,medicine.medical_treatment ,Anxiety ,environment and public health ,Drug Administration Schedule ,Diagnosis, Differential ,Non epileptic ,Epilepsy ,Seizures ,medicine ,Humans ,In patient ,Prospective Studies ,Adverse effect ,Prospective cohort study ,business.industry ,fungi ,food and beverages ,Middle Aged ,medicine.disease ,Substance Withdrawal Syndrome ,Clinical trial ,Editorial Commentary ,Psychiatry and Mental health ,Treatment Outcome ,Anticonvulsant ,Anesthesia ,Female ,lipids (amino acids, peptides, and proteins) ,Anticonvulsants ,Surgery ,Neurology (clinical) ,Epileptic seizure ,medicine.symptom ,business - Abstract
Background: To determine whether withdrawal of anticonvulsant drugs (AED) can be carried out safely in patients with non-epileptic seizures (NES). Methods: Prospective evaluation of safety and outcome in 78 patients with NES who satisfied a standardised set of criteria for excluding the diagnosis of coexisting or underlying epilepsy. Findings: The patients were taking from one to three AED. Sixty four patients were withdrawn as outpatients, 14 as inpatients. Five patients stopped their drugs abruptly, and two had AED restarted and had to be withdrawn again. Otherwise all patients adhered to withdrawal schedules. A new type of attack in addition to NES was seen in three patients (complex partial seizures in all three cases). NES frequency declined in the group as a whole over the period of the study (follow up 6–12 months) in all individuals except for eight patients in whom there was a transient increase. Fourteen patients reported new physical symptoms after withdrawal; however, no serious adverse events were reported. Conclusions: With appropriate diagnostic investigation and surveillance during follow up withdrawal of AED can be achieved safely in patients with NES.
- Published
- 2005
36. Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases
- Author
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Andrea Sylvia Winkler, Tim J Peters, and R D C Elwes
- Subjects
Adult ,Paper ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pediatrics ,Variegate porphyria ,Drug Resistance ,Porphyrias ,Epilepsy ,Refractory ,medicine ,Humans ,In patient ,skin and connective tissue diseases ,Acute intermittent porphyria ,business.industry ,nutritional and metabolic diseases ,medicine.disease ,Chronic epilepsy ,humanities ,Surgery ,Psychiatry and Mental health ,Porphyria ,Acute Disease ,Chronic Disease ,Refractory epilepsy ,Female ,Neurology (clinical) ,business - Abstract
Objectives: Although epileptic seizures are an infrequent feature of acute attacks of the neuropsychiatric porphyrias, there are no significant reports of porphyria in chronic epilepsy. This paper attempts to redress the balance. Methods: Three case reports, including detailed laboratory and molecular diagnostics. Results: Two patients with variegate porphyria and one with acute intermittent porphyria, referred within 1 year to a specialist porphyria service, with a long history of chronic refractory epileptic seizures, are described. Conclusions: Porphyria may be an aetiological factor in some cases of chronic refractory partial or generalised epilepsy. Porphyria should also be considered if addition of a new anti-epileptic medication causes a major deterioration in the epilepsy.
- Published
- 2005
37. Neurosyphilis in the modern era
- Author
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J Carr and M Timmermans
- Subjects
Paper ,Adult ,Male ,Sexually transmitted disease ,Pediatrics ,medicine.medical_specialty ,genetic structures ,Adolescent ,Population ,Spinal Cord Diseases ,Diagnosis, Differential ,Neurosyphilis ,South Africa ,Seizures ,medicine ,Humans ,Age of Onset ,education ,Retrospective Studies ,education.field_of_study ,business.industry ,Brain ,Delirium ,Middle Aged ,medicine.disease ,Surgery ,Psychiatry and Mental health ,Tabes dorsalis ,Dementia ,Female ,Syphilis ,Neurology (clinical) ,medicine.symptom ,Age of onset ,Differential diagnosis ,Tomography, X-Ray Computed ,Echo ,business - Abstract
Objective: To review the nature of the presentation of neurosyphilis, the value of diagnostic tests, and the classification of the disease. Methods: A retrospective review was carried out of the records of patients who had been identified as possible cases of neurosyphilis by a positive FTA-abs test in the CSF. The review extended over 10 years at a single hospital which served a population of mixed ancestry in a defined catchment area in the Western Cape province of South Africa. Patients were placed in predefined diagnostic categories, and clinical, radiological, and laboratory features were assessed. Results: 161 patients met diagnostic criteria for neurosyphilis: 82 presented with combinations of delirium and dementia and other neuropsychiatric conditions, and the remainder had typical presentations such as stroke (24), spinal cord disease (15), and seizures (14). The average age of presentation ranged from 35.9 to 42.6 years in the different categories of neurosyphilis. Of those followed up, 77% had residual deficits from their initial illness. Cerebrospinal fluid (CSF) VDRL was positive in 73% of cases. Conclusions: The diagnosis of neurosyphilis can be made with reasonable certainty if there is an appropriate neuropsychiatric syndrome associated with a positive CSF VDRL. If the VDRL is negative, a positive FTA-abs in an appropriate clinical setting, associated with raised CSF cell count, protein, or IgG index, is a useful method of identifying neurosyphilis. Tabes dorsalis has become uncommon, but this is likely to be the only manifestation of neurosyphilis that has been altered during the antibiotic era.
- Published
- 2004
38. Inappropriate emergency management of status epilepticus in children contributes to need for intensive care
- Author
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L Verhulst, B. G. R. Neville, Richard F.M. Chin, Rod C. Scott, and Mark J. Peters
- Subjects
Male ,Paper ,endocrine system ,Emergency Medical Services ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Unnecessary Procedures ,Intensive Care Units, Pediatric ,law.invention ,Benzodiazepines ,Patient Admission ,Status Epilepticus ,law ,Intensive care ,Emergency medical services ,medicine ,Child and adolescent psychiatry ,Humans ,Child ,Depression (differential diagnoses) ,Dose-Response Relationship, Drug ,business.industry ,Infant, Newborn ,Infant ,Retrospective cohort study ,biochemical phenomena, metabolism, and nutrition ,Hospitals, Pediatric ,Intensive care unit ,Psychiatry and Mental health ,England ,El Niño ,Child, Preschool ,Life support ,Practice Guidelines as Topic ,Utilization Review ,Anticonvulsants ,Female ,Surgery ,Neurology (clinical) ,Respiratory Insufficiency ,business ,Algorithms - Abstract
Objectives: To characterise the clinical features, emergency pre-paediatric intensive care (PIC) treatment, and course of status epilepticus (SE) in children admitted to PIC. This may provide insight into reasons for admission to PIC and provide a framework for the development of strategies that decrease the requirement for intensive care. Design: Cross sectional, retrospective study. Setting: A tertiary paediatric institution's intensive care unit. Participants: The admission database and all discharge summaries of each admission to a tertiary paediatric institution's PIC over a three year period were searched for children aged between 29 days and 15 years with a diagnosis of SE or related diagnoses. The case notes of potential cases of SE were systematically reviewed, and clinical and demographic data extracted using a standard data collection form. Results: Most children with SE admitted to PIC are aged less than 5 years, male to female ratio 1:1, and most (77%) will have had no previous episodes of SE. Prolonged febrile convulsions, SE related to central nervous system infection, and SE associated with epilepsy occur in similar proportions. Contrary to the Advanced Paediatric Life Support guidelines many children admitted to PIC for SE receive over two doses, or inadequate doses, of benzodiazepine. There is a risk of respiratory depression following administration of over two doses of benzodiazepine (χ2 = 3.4, p = 0.066). Children with SE admitted to PIC who had prehospital emergency treatment are more likely to receive over two doses of benzodiazepines (χ2 = 11.5, p = 0.001), and to subsequently develop respiratory insufficiency (χ2 = 6.2, p = 0.01). Mortality is low. Further study is required to determine the morbidity associated with SE in childhood requiring intensive care. Conclusions: As the risk of respiratory depression is greater with more than two doses of benzodiazepines, clinicians should not disregard prehospital treatment of SE. As pre-PIC treatment of SE is inadequate in many cases, appropriate audit and modifications of standard guidelines are required.
- Published
- 2004
39. Post-stroke movement disorders: report of 56 patients
- Author
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F Alarcón, G Dueñas, J C M Zijlmans, and N Cevallos
- Subjects
Adult ,Male ,Paper ,medicine.medical_specialty ,Pediatrics ,Subarachnoid hemorrhage ,Movement disorders ,Adolescent ,Central nervous system disease ,Parkinsonian Disorders ,Chorea ,Risk Factors ,Tremor ,medicine ,Humans ,cardiovascular diseases ,Registries ,Dominance, Cerebral ,Stroke ,Aged ,Probability ,Neurologic Examination ,Dystonia ,Dyskinesias ,business.industry ,Cerebral infarction ,Vascular disease ,Age Factors ,Brain ,Cerebral Infarction ,Middle Aged ,Subarachnoid Hemorrhage ,Prognosis ,medicine.disease ,Survival Analysis ,Surgery ,Psychiatry and Mental health ,Case-Control Studies ,Female ,Neurology (clinical) ,medicine.symptom ,Tomography, X-Ray Computed ,business ,Intracranial Hemorrhages ,Follow-Up Studies - Abstract
Background: Although movement disorders that occur following a stroke have long been recognised in short series of patients, their frequency and clinical and imaging features have not been reported in large series of patients with stroke. Methods: We reviewed consecutive patients with involuntary abnormal movements (IAMs) following a stroke who were included in the Eugenio Espejo Hospital Stroke Registry and they were followed up for at least one year after the onset of the IAM. We determined the clinical features, topographical correlations, and pathophysiological implications of the IAMs. Results: Of 1500 patients with stroke 56 developed movement disorders up to one year after the stroke. Patients with chorea were older and the patients with dystonia were younger than the patients with other IAMs. In patients with isolated vascular lesions without IAMs, surface lesions prevailed but patients with deep vascular lesions showed a higher probability of developing abnormal movements. One year after onset of the IAMs, 12 patients (21.4%) completely improved their abnormal movements, 38 patients (67.8%) partially improved, four did not improve (7.1%), and two patients with chorea died. In the nested case–control analysis, the patients with IAMs displayed a higher frequency of deep lesions (63% v 33%; OR 3.38, 95% CI 1.64 to 6.99, p
- Published
- 2004
40. A cohort study of early neurological consultation by telemedicine on the care of neurological inpatients
- Author
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David Chant, Clive Russell, V. H. Patterson, R Chua, J. Craig, and Richard Wootton
- Subjects
Paper ,Adult ,Male ,Patient Transfer ,Rural Population ,medicine.medical_specialty ,Telemedicine ,Pediatrics ,Neurology ,Speech Disorders ,Cohort Studies ,Neurological assessment ,Health care ,medicine ,Humans ,Confusion ,Referral and Consultation ,Aged ,Movement Disorders ,business.industry ,Hazard ratio ,Headache ,Length of Stay ,Middle Aged ,Hospitalization ,Medical services ,Psychiatry and Mental health ,Usual care ,Consciousness Disorders ,Female ,Surgery ,Neurology (clinical) ,business ,Cohort study - Abstract
Objectives: To find out the effect of early neurological consultation using a real time video link on the care of patients with neurological symptoms admitted to hospitals without neurologists on site. Methods: A cohort study was performed in two small rural hospitals: Tyrone County Hospital (TCH), Omagh, and Erne Hospital, Enniskillen. All patients over 12 years of age who had been admitted because of neurological symptoms, over a 24 week period, to either hospital were studied. Patients admitted to TCH, in addition to receiving usual care, were offered a neurological consultation with a neurologist 120 km away at the Neurology Department of the Royal Victoria Hospital, Belfast, using a real time video link. The main outcome measure was length of hospital stay; change of diagnosis, mortality at 3 months, inpatient investigation, and transfer rate and use of healthcare resources within 3 months of admission were also studied. Results: Hospital stay was significantly shorter for those admitted to TCH (hazard ratio 1.13; approximate 95% Cl 1.003 to 1.282; p = 0.045). No patients diagnosed by the neurologist using the video link subsequently had their diagnosis changed at follow up. There was no difference in overall mortality between the groups. There were no differences in the use of inpatient hospital resources and medical services in the follow up period between TCH and Erne patients. Conclusions: Early neurological assessment reduces hospital stay for patients with neurological conditions outside of neurological centres. This can be achieved safely at a distance using a real time video link.
- Published
- 2004
41. Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms
- Author
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Carlo Alberto Tassinari, Guido Rubboli, B. Bernardi, Giuseppe d'Orsi, Anna Zaniboni, Lilia Volpi, Francesca Bisulli, A. Baruzzi, Paolo Tinuper, Roberto Michelucci, Roberto Riva, D'ORSI G, TINUPER P, BISULLI F, ZANIBONI A, BERNARDI B, RUBBOLI G, RIVA R, MICHELUCCI R, VOLPI L, TASSINARI CA, and BARUZZI A.
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Pathology ,Adolescent ,Choristoma ,Electroencephalography ,Central nervous system disease ,Epilepsy ,hemic and lymphatic diseases ,Outcome Assessment, Health Care ,medicine ,Polymicrogyria ,Humans ,Abnormalities, Multiple ,Agenesis of the corpus callosum ,Retrospective Studies ,Cerebral Cortex ,medicine.diagnostic_test ,Magnetic resonance imaging ,Middle Aged ,Prognosis ,medicine.disease ,Magnetic Resonance Imaging ,Psychiatry and Mental health ,Schizencephaly ,Female ,Surgery ,Cerebellar atrophy ,Neurology (clinical) ,Psychology ,Follow-Up Studies - Abstract
Objectives: Little is known about the long term outcome of patients with periventricular nodular heterotopia (PNH) and epilepsy, particularly the course of seizures. This study investigated the electroclinical and prognostic features of 16 patients with PNH. Methods: Of 120 patients with epilepsy and malformations of cortical development, 16 had PNH. Of these, eight patients had periventricular nodules only (simple PNH) and eight also presented with other cortical or cerebral malformations (subcortical heterotopia; polymicrogyria; focal dysplasia; schizencephaly; cortical infolding; agenesis of the corpus callosum; mega cisterna magna and cerebellar atrophy) (PNH plus). All patients underwent clinical, neurophysiological, and MRI investigation. The mean follow up was 17.3 years (2–40 years). Results: Two electroclinical patterns emerged: (1) The first pattern, associated with simple PNH, was characterised by normal intelligence and seizures, usually partial, which began during the second decade of life. The seizures never became frequent and tended to disappear or become very rare. The EEG showed focal abnormalities. (2) The second pattern, associated with PNH plus, was characterised by mental retardation and seizures that began during the first decade of life. The seizures were very frequent in most cases and sudden drops were observed in six patients. Seizures were medically refractory in four patients. The EEG showed focal and bisynchronous abnormalities. Conclusions: Two groups of PNH patients with different electroclinical and neuroradiological features can be identified after a long term follow up. The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis.
- Published
- 2004
42. Clinical characteristics of multiple sclerosis in Vasterbotten County in northern Sweden
- Author
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Anders Svenningsson, Lennarth Nyström, Lars Forsgren, and Peter Sundström
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Multiple Sclerosis ,Population ,Disease ,Cohort Studies ,Age Distribution ,Catchment Area, Health ,Cerebellum ,Prevalence ,Humans ,Medicine ,Age of Onset ,Sex Distribution ,education ,Sweden ,education.field_of_study ,business.industry ,Incidence ,Multiple sclerosis ,Incidence (epidemiology) ,Brain ,Optic Nerve ,medicine.disease ,Surgery ,Natural history ,Psychiatry and Mental health ,Spinal Cord ,Cohort ,Female ,Neurology (clinical) ,Age of onset ,business ,Brain Stem ,Follow-Up Studies ,Cohort study - Abstract
Background: Most clinical data for multiple sclerosis are hospital based—that is, derived from patients referred to clinics specialising in the disease. Objectives: To present data derived from two population based multiple sclerosis populations, an incidence cohort and a prevalence population, from Vasterbotten County, northern Sweden. Methods: The two populations were identified from multiple sources, and case ascertainment was assured through a personal clinical review, including interviews and examination of the patients. Results: Characteristics at onset for the different clinical subtypes of multiple sclerosis are presented, including the clinical spectrum of the first attack, the anatomical correlation between the first and second attacks, sex distribution, and disability distribution. Conclusions: Based on the comparison of present and earlier natural history data, multiple sclerosis appears to be a slightly more benign disease than previously recognised.
- Published
- 2004
43. Comparison of Handheld Computer-Assisted and Conventional Paper Chart Documentation of Medical Records
- Author
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Dirk Stengel, Axel Ekkernkamp, Kai Bauwens, Martin Walter, and Thilo Köpfer
- Subjects
Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Medical Records Systems, Computerized ,Quality Assurance, Health Care ,Attitude of Health Personnel ,Point-of-Care Systems ,Documentation ,Medical Records ,law.invention ,Randomized controlled trial ,Chart ,International Classification of Diseases ,law ,Medical Staff, Hospital ,medicine ,Clinical endpoint ,Humans ,Orthopedic Procedures ,Orthopedics and Sports Medicine ,Medical physics ,Medical diagnosis ,Hospitals, Teaching ,Qualitative Research ,Aged ,Attitude to Computers ,business.industry ,Medical record ,General Medicine ,Evidence-based medicine ,Middle Aged ,Sample size determination ,Computers, Handheld ,Regression Analysis ,Female ,Surgery ,business - Abstract
Background: Daily documentation and maintenance of medical record quality is a crucial issue in orthopaedic surgery. The purpose of the present study was to determine whether the introduction of a handheld computer could improve both the quantitative and qualitative aspects of medical records. Methods: A series of consecutive patients who were admitted for the first time to a thirty-six-bed orthopaedic ward of an academic teaching hospital for a planned operation or any other treatment of an acute injury or chronic condition were randomized to daily documentation of their clinical charts on a handheld computer or on conventional paper forms. The electronic documentation consisted of a specially designed software package on a handheld computer for bedside use with structured decision trees for examination, obtaining a history, and coding. In the control arm, chart notes were compiled on standard paper forms and were subsequently entered into the hospital's information system. The number of documented ICD (International Classification of Diseases) diagnoses was the primary end point for sample size calculations. All patient charts were reread by an expert panel consisting of two surgeons and the surgical quality assurance manager. These experts assigned quality ratings to the different documentation systems by scrutinizing the extent and accuracy of the patient histories and the physical findings as assessed by daily chart notes. Results: Eighty patients were randomized to one of the two documentation arms, and seventy-eight (forty-seven men and thirty-one women) of them were eligible for final analysis. Documentation with the handheld computer increased the median number of diagnoses per patients from four to nine (p < 0.0001), but it produced some overcoding for false or redundant items. Documentation quality ratings improved significantly with the introduction of the handheld device (p < 0.01) with respect to the correct assessment of a patient's progress and translation into ICD diagnoses. Various learning curve effects were observed with different operators. Study physicians assigned slightly better practicability ratings to the handheld device. Conclusions: The preliminary data from this study suggest that handheld computers may improve the quality of hospital charts in orthopaedic surgery. Level of Evidence: Therapeutic study, Level I-1a (randomized controlled trial [significant difference]). See Instructions to Authors for a complete description of levels of evidence.
- Published
- 2004
44. Rate and correlates of weight change in Huntington's disease
- Author
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G. Peavy, Jody Corey-Bloom, Mark W. Jacobson, Tanya Wolfson, and Joanne M. Hamilton
- Subjects
Male ,Paper ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Nerve Tissue Proteins ,Disease ,Central nervous system disease ,Trinucleotide Repeats ,Huntington's disease ,Chorea ,Weight loss ,mental disorders ,Weight Loss ,medicine ,Humans ,Psychiatry ,Dystonia ,Huntingtin Protein ,Dysarthria ,Mental Disorders ,Weight change ,Nuclear Proteins ,Proteins ,Middle Aged ,medicine.disease ,nervous system diseases ,Psychiatry and Mental health ,Huntington Disease ,Female ,Surgery ,sense organs ,Neurology (clinical) ,Chromosomes, Human, Pair 4 ,Psychomotor Disorders ,medicine.symptom ,Cognition Disorders ,Energy Metabolism ,Psychology ,Asymptomatic carrier - Abstract
Objective: To determine the rate and correlates of weight change in a large, well characterised sample of patients with Huntington’s disease followed at 44 sites by the Huntington Study Group. Participants and methods: Weight change was assessed in 927 adults with a definite diagnosis of Huntington’s disease who were followed prospectively for (mean (SD)) 3.4 (1.4) years. The unified Huntington’s disease rating scale was used to assess weight, motor dysfunction (including chorea and dystonia), depressive symptoms, and functional decline. Results: Random effects modelling determined that patients gained an average of 0.11 (1.7) kg/year and their chorea scores increased by 0.36 (0.78) points/year. There were significant but weak relations between weight loss and increasingly severe chorea ( r = −0.13), worse baseline motor performance ( r = −0.12), less severe baseline depressed mood ( r = 0.14), and poorer baseline independence ratings ( r = 0.07). Patients who were within 0 to 2 years of symptom onset at the time of the baseline visit gained more weight than those with longer disease duration. Conclusions: Weight loss following symptom onset is not a consistent feature of Huntington’s disease. The mechanisms contributing to weight change in this condition are unclear and probably multifactorial. Future studies examining asymptomatic carriers of the mutation could be helpful in identifying incipience of low body weight and may be better suited for identifying clinical correlates of weight loss than studies in symptomatic patients.
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- 2004
45. Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of epilepsy in Childhood
- Author
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C A van Donselaar, O.F. Brouwer, A. C. B. Peters, Huibert H. Geesink, H. Stroink, R.F.M. De Coo, W.F.M. Arts, O. van Nieuwenhuizen, A. T. Geerts, Neurology, Rijksuniversiteit Groningen, and Faculteit Medische Wetenschappen/UMCG
- Subjects
Male ,Paper ,medicine.medical_specialty ,Pediatrics ,TONIC-CLONIC SEIZURE ,genetic structures ,PREDICTION ,CHILDREN ,Electroencephalography ,Severity of Illness Index ,Epilepsy ,Severity of illness ,Medicine ,Humans ,EEG ,Psychiatry ,Child ,RECURRENCE ,Observer Variation ,RISK ,medicine.diagnostic_test ,business.industry ,Clinical judgement ,medicine.disease ,1ST UNPROVOKED SEIZURE ,First seizure ,Psychiatry and Mental health ,Inter-rater reliability ,El Niño ,Child, Preschool ,RELIABILITY ,Surgery ,Female ,EXTENDED FOLLOW-UP ,Neurology (clinical) ,COEFFICIENT ,business ,Kappa - Abstract
Objective: To assess the interrater agreement of the diagnosis and the classification of a first paroxysmal event in childhood. Methods: The descriptions of 100 first paroxysmal events were submitted to two panels each consisting of three experienced paediatric neurologists. Each observer independently made a diagnosis based on clinical judgment and thereafter a diagnosis based on predefined descriptive criteria. Then, the observers discussed all patients within their panel. The agreement between the six individual observers was assessed before discussion within each panel and after that, between the two panels. Results: Using their clinical judgement, the individual observers reached only fair to moderate agreement on the diagnosis of a first seizure (mean (SE) kappa 0.41 (0.03)). With use of defined descriptive criteria the mean (SE) kappa was 0.45 (0.03). The kappa for agreement between both panels after intra-panel discussion increased to 0.60 (0.06). The mean (SE) kappa for the seizure classification by individual observers was 0.46 (0.02) for clinical judgment and 0.57 (0.03) with use of criteria. After discussion within each panel the kappa between the panels was 0.69 (0.06). In 24 out of 51 children considered to have had a seizure, agreement was reached between the panels on a syndrome diagnosis. However, the epileptic syndromes were in most cases only broadly defined. Conclusions: The interrater agreement on the diagnosis of a first seizure in childhood is just moderate. This phenomenon hampers the interpretation of studies on first seizures in which the diagnosis is only made by one observer. The use of a panel increased the interrater agreement considerably. This approach is recommended at least for research purposes. Classification into clinically relevant syndromes is possible only in a very small minority of children with a single seizure.
- Published
- 2004
46. Clinical surveillance of carpal tunnel syndrome in two areas of the United Kingdom, 1991-2001
- Author
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Stephan M. Rudolfer and Jeremy D.P. Bland
- Subjects
musculoskeletal diseases ,Adult ,Male ,Paper ,Pediatrics ,medicine.medical_specialty ,Time Factors ,Neuromuscular disease ,Population ,Clinical neurophysiology ,Severity of Illness Index ,Age Distribution ,Severity of illness ,Epidemiology ,Humans ,Medicine ,Sex Distribution ,skin and connective tissue diseases ,Carpal tunnel syndrome ,education ,Aged ,Aged, 80 and over ,education.field_of_study ,business.industry ,Incidence ,Incidence (epidemiology) ,Middle Aged ,musculoskeletal system ,medicine.disease ,Carpal Tunnel Syndrome ,United Kingdom ,Median nerve ,Surgery ,body regions ,Psychiatry and Mental health ,Population Surveillance ,Female ,sense organs ,Neurology (clinical) ,business - Abstract
Objective: To study the demographic characteristics of patients with carpal tunnel syndrome and changes in incidence over time. Methods: Prospective collection of neurophysiological and clinical data on all patients presenting to the subregional department of clinical neurophysiology in Canterbury, UK, from 1992 to 2001 and to the electromyography clinic in St Luke's Hospital, Huddersfield, UK, from 1991 to 1993. Results: 6245 new cases of neurophysiologically confirmed carpal tunnel syndrome were identified in Canterbury and 590 in Huddersfield. The average annual incidences (per 100 000) were 139.4 for women and 67.2 for men in East Kent, and 83.2 for women and 48.0 for men in Huddersfield. Corrected to the WHO European standard population these rates were 120.5 for women and 60.0 for men in East Kent, and 61.5 for women and 35.0 for men in Huddersfield. Between 1992 and 2001 there was an increase in the number of confirmed cases in East Kent but a decrease in their average severity. The age distributions were bimodal with a peak in the 50–54 age group and a second peak between 75 and 84 years. Over half the cases were bilateral. The disorder was consistently worse in the elderly, and more severe in men than in women in all age groups. Conclusions: The age distributions of unselected cases of carpal tunnel syndrome in both clinics differ markedly from that usually portrayed in surgical series. There was a significant increase in cases diagnosed between 1992 and 2001 in Canterbury, probably the result of increased ascertainment of milder cases. Median nerve impairment is more severe in the elderly and in men at all ages.
- Published
- 2003
47. Early cognitive decline in Creutzfeldt-Jakob disease associated with human growth hormone treatment
- Author
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L Davidson, P Adlard, M Hall, Safa Al-Sarraj, Lisa Cipolotti, Martin N. Rossor, D G O'Donovan, and R. J. Cordery
- Subjects
Paper ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Pathology ,Creutzfeldt-Jakob Syndrome ,Cerebellum ,mental disorders ,Cadaver ,medicine ,Humans ,Dementia ,Neuropsychological assessment ,Cognitive decline ,medicine.diagnostic_test ,Human Growth Hormone ,Cognitive disorder ,Neuropsychology ,medicine.disease ,Growth hormone treatment ,Psychiatry and Mental health ,Pituitary Gland ,Female ,Surgery ,Neurology (clinical) ,Cognition Disorders ,Drug Contamination ,Psychology ,Executive dysfunction - Abstract
Background: Most cases of Creutzfeldt-Jakob disease (CJD) in recipients of human cadaveric growth hormone present with a cerebellar syndrome. Dementia is thought to occur late and as a minor feature of the illness. However, neuropsychology data published on these cases are largely qualitative and anecdotal. The first published case does include a neuropsychological assessment seven months after the onset of a cerebellar syndrome, showing evidence of intellectual decline. Subsequent reports hint that cognitive problems may be present in the initial stages of the illness. Objective: To assess early cognition in Creutzfeldt-Jakob disease in recipients of pituitary derived human growth hormone. Methods: Detailed neuropsychology assessment is reported at referral (mean 4.5 months from the onset of symptoms; range 4 to 6 months) in five patients with histologically proven human growth hormone derived CJD. Results: All cases presented with a cerebellar syndrome and only one had noticed mild memory problems. On formal testing, however, four had demonstrable mild intellectual decline, as measured on the WAIS-R. One case showed selective visual memory impairment and frontal executive dysfunction. Conclusions: These findings suggest that, although not the presenting feature, mild cognitive decline may be evident in the early stages of CJD associated with human cadaveric growth hormone treatment.
- Published
- 2003
48. Long term neuropsychological outcome after head injury: relation to APOE genotype
- Author
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Jar Nicoll, G. M. Teasdale, Gordon D Murray, Sharon Thornhill, and Keith Millar
- Subjects
Paper ,Apolipoprotein E ,medicine.medical_specialty ,Pediatrics ,Traumatic brain injury ,Glasgow Outcome Scale ,Head injury ,medicine.disease ,Confidence interval ,Psychiatry and Mental health ,Cohort ,medicine ,Surgery ,Neurology (clinical) ,Cognitive decline ,Psychiatry ,Psychology ,Cohort study - Abstract
Background: Existing evidence suggests that some patients who sustain a head injury suffer cognitive decline many years later, and that head injury and possession of the APOE e4 allele are each risk factors for Alzheimer's disease. Objective: To determine whether late cognitive decline after head injury is more prevalent among carriers of APOE e4. Methods: A database of head injured patients was used. Initial assessment was at the time of their injury, between 1968 and 1985, and outcome data at six months were available. Their ages at the time of injury ranged between 2 and 70 years. A cohort of 396 subjects was reassessed at a mean of 18 years later, with determination of APOE genotype and detailed neuropyschological testing. Results: Judging by the Glasgow outcome scale, twice as many patients had deteriorated as improved between six months after injury and the late assessment; 22.2% of APOE e4 carriers had a good late outcome compared with 30.5% of non-carriers (95% confidence interval for the difference, -0.7% to 17.2%; p = 0.084). There were no clear differences between e4 carriers and non-carriers in detailed neuropsychological assessments. Conclusions: Although this study provides additional evidence that a late decline may occur after head injury, there was no clear relation to APOE genotype. Despite the follow up interval of 15 to 25 years, the cohort is still too young (mean age 42.1 years) to assess the risk of Alzheimer's disease.
- Published
- 2003
49. Lewy body cortical involvement may not always predict dementia in Parkinson's disease
- Author
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L Kilford, Carlo Colosimo, Andrew J. Hughes, and Andrew J. Lees
- Subjects
Adult ,Male ,Paper ,Pathology ,medicine.medical_specialty ,Pediatrics ,Parkinson's disease ,Neocortex ,Neuropathology ,Central nervous system disease ,Degenerative disease ,mental disorders ,Limbic System ,medicine ,Humans ,Dementia ,Aged ,Aged, 80 and over ,Lewy body ,Dementia with Lewy bodies ,Parkinsonism ,Parkinson Disease ,Middle Aged ,Prognosis ,medicine.disease ,Psychiatry and Mental health ,nervous system ,Female ,Lewy Bodies ,Surgery ,Autopsy ,Neurology (clinical) ,Psychology - Abstract
Background: The presence of Lewy bodies (LB) in the neocortex and limbic system in patients with Parkinson's disease (PD) is commonly thought to be linked with cognitive impairment. The authors present here a series of patients with diagnosis of PD in life and no significant cognitive impairment who, at necropsy, satisfied the current neuropathological criteria for dementia with Lewy bodies (DLB). Methods: Two hundred and seventy six brains with PD pathology were examined at the Queen Square Brain Bank in London between 1993 and 1999. The neuropathological diagnosis was PD, but 117 patients also had sufficient LB involvement above the brain stem to satisfy the current neuropathological criteria for DLB (50 patients had a neuropathological picture consistent with the limbic category of DLB and 67 with neocortical DLB). Forty eight cases were excluded who developed early cognitive impairment together with motor features of parkinsonism, 12 cases for lack of detailed clinical history, and 19 cases with coexistent features of advanced Alzheimer's disease changes. Thirty eight patients (13.8% of the total with PD pathology and 32.5 % of the total with DLB pathology) were found where there was no or very late cognitive impairment reported in the clinical records. Results: Selected cases were 24 men and 14 women, with a mean (SD) age at onset of parkinsonian symptoms of 60.1 (10.1) years and a mean disease duration of 15.3 (5.5) years. At some time during the evolution of the disease 21 patients developed different degrees of cognitive impairment (after a mean disease duration of 12.2 (4.8) years). Clinical diagnosis at death was PD in 10 cases and PD with dementia in 11. In the remaining 17 patients no history of cognitive impairment was ever recorded in life and all of them had a clinical diagnosis of PD at death; in this subgroup, nine patients later revealed a neuropathological picture consistent with limbic (or transitional) category of DLB and eight with neocortical DLB. Interestingly, in all these patients the parkinsonian features including the response to dopaminergic drugs were indistinguishable from classic brain stem PD. Conclusions: The authors demonstrate that the classic pathology of DLB can commonly be seen outside the generally accepted clinical spectrum for DLB and that important factors other than the absolute number of LB in the neocortex and limbic system influence the development of cognitive impairment in PD. Furthermore, the pathology of PD may be indistinguishable from that reported in DLB, suggesting that the two clinicopathological syndromes may be attributable to the same biological abnormality.
- Published
- 2003
50. Prevalence and patterns of neurological involvement in Behcet's disease: a prospective study from Iraq
- Author
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A Al-Araji, Z S Al-Rawi, and Khalifa E. Sharquie
- Subjects
Adult ,Male ,Paper ,medicine.medical_specialty ,Pediatrics ,Systemic disease ,Outpatient Clinics, Hospital ,Time Factors ,Adolescent ,Eye disease ,Neurological disorder ,Behcet's disease ,Epidemiology ,Prevalence ,Humans ,Medicine ,Outpatient clinic ,Prospective Studies ,Prospective cohort study ,Aged ,business.industry ,Vascular disease ,Behcet Syndrome ,Phlebography ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,eye diseases ,Surgery ,stomatognathic diseases ,Psychiatry and Mental health ,Iraq ,Female ,Neurology (clinical) ,Nervous System Diseases ,business ,Follow-Up Studies - Abstract
Objectives: To determine the prevalence of neurological involvement in Behcet’s disease in a prospective study, and to describe the clinical patterns of neurological presentation in this disease in patients attending a multidisciplinary clinic in Baghdad. Methods: All patients attending the clinic who fulfilled the international study group criteria for the diagnosis of Behcet’s disease were studied during a two year period starting in April 1999. Patients were assessed neurologically by a neuro-Behcetologist. All those with clinical neurological manifestations were sent for CSF examination, cranial magnetic resonance imaging, and magnetic resonance venography and were followed up to explore the patterns of neurological relapse. Results: 140 patients with Behcet’s disease were studied. Their mean age was 34.2 years (range 16 to 66); 105 (75%) were men and 35 (25%) were women. The mean duration of the disease was 4.2 years (range 0.4 to 26). Twenty patients (14%) had neurological involvement (neuro-Behcet’s disease); 14 of these (70%) were men and six (30%) women. The mean age at the first neurological presentation was 34.1 years. The mean duration of follow up of patients with neuro-Behcet’s disease was 20.7 months. Ten patients with neuro-Behcet’s disease (50%) presented with parenchymal CNS involvement, six (30%) with intracranial hypertension, and four (20%) with a mixed pattern of both parenchymal CNS involvement and intracranial hypertension. Conclusions: Careful neurological assessment of patients with Behcet’s disease may show a relatively high prevalence of neuro-Behcet features, and though the clinical patterns of presentation are characteristic a mixed pattern may occur.
- Published
- 2003
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