DSpace Community: The School of Clinical Medicine

A case of Cerebellar Ataxia

Tue, 28 Sep 2010 23:00:00 GMT

Title: A case of Cerebellar Ataxia Authors: Weaver, Jamie; Brown-Kerr, Alana Abstract: Mr X, a 66-year-old gentleman, presented to the emergency department with progressively worsening unsteadiness on his feet, double vision, nausea and vomiting. Two months previously the patient noticed he was becoming unsteady on his feet. This progressed such that he was now struggling to walk unaided. Four days prior to his admission the patient developed persistent nausea and vomiting and noticed double vision. It was this that brought him to the emergency department. The patient denied any headaches, vertigo, weakness, confusion, bowel or bladder dysfunction and the unsteadiness was independent of position. Bowel movements were normal and he reported no other symptoms of abdominal pathology. The patient drank on average 10 units of alcohol a week and reported no recent increase in consumption. He was a life-long non-smoker, and denied any recent symptoms of respiratory pathology. On further questioning it emerged that he had noticed weight loss of approx 10kg over the last 2 months. He had no past medical history of note and was currently taking no medications. His father had been diagnosed at 84 with a glioblastoma and a first-cousin, 63 years old, had recently been diagnosed with Parkinson's disease. There was no other family history of neurological or neoplastic disorders.

An Introduction to CMJ

Sat, 25 Sep 2010 23:00:00 GMT

Title: An Introduction to CMJ Authors: Day, Lizzy Abstract: Welcome to the Cambridge Medical Journal. First published in 1978, representing the work of the students of Cambridge Clinical School, the journal covers a wide range of topics relating to medicine. In 2010, 32 years on, we are bringing the CMJ up to date with an online only version. Covering new sections, the new CMJ aims to be more accessible and useful to its readership, as well as expanding its reach.

Discovering Serendipity

Thu, 07 Oct 2010 23:00:00 GMT

Title: Discovering Serendipity Authors: Ashna, Nastar; Samira, Afzal Abstract: Dengue is the most rapidly spreading mosquito-borne viral disease in the world, with an annual incidence of over 100 million infections (Malavige, 2006). The disease is caused by four distinct, but closely related, virus strains all transmitted by the Aedes aegypti mosquito. Infection with one serotype provides life-long immunity to that virus but not to the others. Although primary prevention methods can significantly reduce the spread of disease, the incidence of dengue in Sri Lanka has unfortunately increased over the past ten years, with a total of 31 046 cases and 227 deaths being reported between January and September 2010 alone (Sri Lankan Ministry Of Healthcare and Nutrition, 2010). The demographics of dengue fever have also evolved; a decade ago, children were predominantly affected, but recent years have seen a rise in the number of adult dengue patients, with significant morbidity and mortality. The reasons for this change are still unclear (Teixeira, 2008).

Delay in accessing healthcare after transient ischaemic attack and minor stroke : the role of primary care in the problem and the solution

Wed, 09 May 2012 23:00:00 GMT

Title: Delay in accessing healthcare after transient ischaemic attack and minor stroke : the role of primary care in the problem and the solution Authors: Lasserson, Daniel Sascha Abstract: Transient ischaemic attack (TIA) and minor stroke are associated with a high risk of recurrent stroke which can be predicted with a clinical rule and reduced with urgent treatment. Delay in accessing assessment and vascular risk factor modification should therefore be as short as possible, yet little is known in the UK about where patients seek care and the key influences of the time to contact healthcare services. However, using cohort studies to answer questions on healthcare access requires an assessment of how well such cohorts represent the wider population. Within the primary care consultation, the recognition of TIA is an important step in the care pathway as definitive treatment is initiated by specialists, yet TIA presentations are not common for individual GPs and difficulties in diagnosis may be due to low clinical exposure in routine practice or inadequacies in training. For patients where GPs suspect that TIA may be the cause of symptoms, inaccurate risk prediction and diagnosis of TIA can result in delay to definitive care and the existing tools for prognosis and diagnosis have been exclusively derived from clinical assessments in secondary care rather than primary care.

Index to dataset of MRI images

Sat, 01 Jan 2011 00:00:00 GMT

Title: Index to dataset of MRI images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer Abstract: If you want to download subsets of the MRI images please open the spreadsheet below (indexToHDMouseModelsOnline.xls) and sort according to your requirements. The final column has a clickable URL to the MRI file. File sizes are between 6 and 20 megabytes so if you want to download a large number and you have access to wget then sort the spreadsheet according to your requirements. select the last two columns of the required selection and paste into a shell script. Or change wget to curl or whatever other client-side URL transfer program you prefer.

MRI scans : Collection of WhiteMatter images

Sat, 01 Jan 2011 00:00:00 GMT

Title: MRI scans : Collection of WhiteMatter images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer

MRI scans : Collection of WarpedImage images

Sat, 01 Jan 2011 00:00:00 GMT

Title: MRI scans : Collection of WarpedImage images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer

MRI scans : Collection of RawImage images

Sat, 01 Jan 2011 00:00:00 GMT

Title: MRI scans : Collection of RawImage images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer

MRI scans : Collection of GreyMatter images

Sat, 01 Jan 2011 00:00:00 GMT

Title: MRI scans : Collection of GreyMatter images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer

MRI scans : Collection of CorticalThickness images

Sat, 01 Jan 2011 00:00:00 GMT

Title: MRI scans : Collection of CorticalThickness images Authors: Sawiak, Stephen J.; Wood, Nigel I.; Carpenter, T. Adrian; Morton, A. Jennifer

Long-term stability of anti-cyclic citrullinated peptide antibody status in patients with early inflammatory polyarthritis

Tue, 08 May 2012 23:00:00 GMT

Title: Long-term stability of anti-cyclic citrullinated peptide antibody status in patients with early inflammatory polyarthritis Authors: Burr, Marian L; Viatte, Sebastien; Bukhari, Marwan; Plant, Darren; Symmons, Deborah P.M.; Thomson, Wendy; Barton, Anne Abstract: Abstract Introduction The utility of reassessing anti-cyclic citrullinated peptide (anti-CCP) antibody status later in disease in patients presenting with early undifferentiated inflammatory polyarthritis, particularly in those who test negative for both anti-CCP and rheumatoid factor (RF) at baseline, remains unclear. We aimed therefore to determine the stability of CCP antibody status over time and the prognostic utility of repeated testing in subjects with early inflammatory polyarthritis (IP). Methods Anti-CCP and RF were measured at baseline and 5 years in 640 IP patients from the Norfolk Arthritis Register, a primary care-based inception cohort. The relation between change in anti-CCP status/titer and the presence of radiologic erosions, the extent of the Larsen score, and Health Assessment Questionnaire (HAQ) score by 5 years was investigated. Results With a cut-off of 5 U/ml, 28% subjects tested positive for anti-CCP antibodies, 29% for RF, and 21% for both at baseline. Nine (2%) anti-CCP-negative patients seroconverted to positive, and nine (4.6%) anti-CCP-positive individuals became negative between baseline and 5 years. In contrast, RF status changed in 17% of subjects. However, change in RF status was strongly linked to baseline anti-CCP status and was not independently associated with outcome. Ever positivity for anti-CCP antibodies by 5 years did not improve prediction of radiographic damage compared with baseline status alone (accuracy, 75% versus 74%). A higher baseline anti-CCP titer (but not change in anti-CCP titer) predicted worse radiologic damage at 5 years (P < 0.0001), even at levels below the cut-off for anti-CCP positivity. Thus, a titer of 2 to 5 U/ml was strongly associated with erosions by 5 years (odds ratio, 3.6 (1.5 to 8.3); P = 0.003). Conclusions Repeated testing of anti-CCP antibodies or RF in patients with IP does not improve prognostic value and should not be recommended in routine clinical practice. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Post-prandial reactive hypoglycaemia and diarrhea caused by idiopathic accelerated gastric emptying: a case report

Thu, 12 May 2011 23:00:00 GMT

Title: Post-prandial reactive hypoglycaemia and diarrhea caused by idiopathic accelerated gastric emptying: a case report Authors: Middleton, Stephen J; Balan, Kottekkattu Abstract: Abstract Introduction The majority of cases of post-prandial reactive hypoglycemia are considered idiopathic. Abnormalities of B-cell function and glucose regulation by insulin and glucagon have been postulated as causes but associated gastrointestinal dysfunction has not been reported. We report the first case of accelerated gastric emptying associated with post-prandial reactive hypoglycemia, abdominal bloating and diarrhea. We consider that gastric dysmotility is an important cause of this condition as treatment of the underlying abnormal gastric emptying allows effective control of symptoms. Case presentation A 20-year-old Caucasian woman presented with post-prandial fatigue, sweating, nausea, faintness and intermittent confusion, which had led to pre-syncope and syncope on occasions. She also experienced marked abdominal bloating and diarrhea over the same period. These episodes responded to oral administration of sweet drinks. Her symptoms were ameliorated by modification of her diet. Conclusion This is an original case report of the association of idiopathic accelerated gastric emptying with post-prandial reactive hypoglycemia and diarrhea. Family physicians, endocrinologists and gastroenterologists often consult patients with a constellation of post-prandial symptoms, which are considered to be idiopathic in most cases. This case indicates that gastric dysmotility might be the primary cause of these symptoms in some patients and, if found, offers a therapeutic target which in our case was successful. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

A new RNASeq-based reference transcriptome for sugar beet and its application in transcriptome-scale analysis of vernalization and gibberellin responses

Mon, 19 Mar 2012 00:00:00 GMT

Title: A new RNASeq-based reference transcriptome for sugar beet and its application in transcriptome-scale analysis of vernalization and gibberellin responses Authors: Mutasa-Gottgens, Effie S; Joshi, Anagha; Holmes, Helen F; Hedden, Peter; Gottgens, Berthold Abstract: Abstract Background Sugar beet (Beta vulgaris sp. vulgaris) crops account for about 30% of world sugar. Sugar yield is compromised by reproductive growth hence crops must remain vegetative until harvest. Prolonged exposure to cold temperature (vernalization) in the range 6°C to 12°C induces reproductive growth, leading to bolting (rapid elongation of the main stem) and flowering. Spring cultivation of crops in cool temperate climates makes them vulnerable to vernalization and hence bolting, which is initiated in the apical shoot meristem in processes involving interaction between gibberellin (GA) hormones and vernalization. The underlying mechanisms are unknown and genome scale next generation sequencing approaches now offer comprehensive strategies to investigate them; enabling the identification of novel targets for bolting control in sugar beet crops. In this study, we demonstrate the application of an mRNA-Seq based strategy for this purpose. Results There is no sugar beet reference genome, or public expression array platforms. We therefore used RNA-Seq to generate the first reference transcriptome. We next performed digital gene expression profiling using shoot apex mRNA from two sugar beet cultivars with and without applied GA, and also a vernalized cultivar with and without applied GA. Subsequent bioinformatics analyses identified transcriptional changes associated with genotypic difference and experimental treatments. Analysis of expression profiles in response to vernalization and GA treatment suggested previously unsuspected roles for a RAV1-like AP2/B3 domain protein in vernalization and efflux transporters in the GA response. Conclusions Next generation RNA-Seq enabled the generation of the first reference transcriptome for sugar beet and the study of global transcriptional responses in the shoot apex to vernalization and GA treatment, without the need for a reference genome or established array platforms. Comprehensive bioinformatic analysis identified transcriptional programmes associated with different sugar beet genotypes as well as biological treatments; thus providing important new opportunities for basic scientists and sugar beet breeders. Transcriptome-scale identification of agronomically important traits as used in this study should be widely applicable to all crop plants where genomic resources are limiting. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

BarraCUDA - a fast short read sequence aligner using graphics processing units

Fri, 13 Jan 2012 00:00:00 GMT

Title: BarraCUDA - a fast short read sequence aligner using graphics processing units Authors: Klus, Petr; Lam, Simon; Lyberg, Dag; Cheung, Ming Sin; Pullan, Graham; McFarlane, Ian; Yeo, Giles S H; Lam, Brian Y H Abstract: Abstract Background With the maturation of next-generation DNA sequencing (NGS) technologies, the throughput of DNA sequencing reads has soared to over 600 gigabases from a single instrument run. General purpose computing on graphics processing units (GPGPU), extracts the computing power from hundreds of parallel stream processors within graphics processing cores and provides a cost-effective and energy efficient alternative to traditional high-performance computing (HPC) clusters. In this article, we describe the implementation of BarraCUDA, a GPGPU sequence alignment software that is based on BWA, to accelerate the alignment of sequencing reads generated by these instruments to a reference DNA sequence. Findings Using the NVIDIA Compute Unified Device Architecture (CUDA) software development environment, we ported the most computational-intensive alignment component of BWA to GPU to take advantage of the massive parallelism. As a result, BarraCUDA offers a magnitude of performance boost in alignment throughput when compared to a CPU core while delivering the same level of alignment fidelity. The software is also capable of supporting multiple CUDA devices in parallel to further accelerate the alignment throughput. Conclusions BarraCUDA is designed to take advantage of the parallelism of GPU to accelerate the alignment of millions of sequencing reads generated by NGS instruments. By doing this, we could, at least in part streamline the current bioinformatics pipeline such that the wider scientific community could benefit from the sequencing technology. BarraCUDA is currently available from http://seqbarracuda.sf.net Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India

Thu, 15 Dec 2011 00:00:00 GMT

Title: Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India Authors: Mehrotra, Sanjana; Fakiola, Michaela; Oommen, Joyce; Jamieson, Sarra E; Mishra, Anshuman; Sudarshan, Medhavi; Tiwary, Puja; Rani, Deepa SELVI; Thangaraj, Kumarasamy; Rai, Madhukar; Sundar, Shyam; Blackwell, Jenefer M Abstract: Abstract Background IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of polymorphonuclear neutrophils (PMN). Variants at CXCR1 and CXCR2 have been associated with susceptibility to cutaneous and mucocutaneous leishmaniasis in Brazil. Here we investigate the role of CXCR1/CXCR2 in visceral leishmaniasis (VL) in India. Methods Three single nucleotide polymorphisms (SNPs) (rs4674259, rs2234671, rs3138060) that tag linkage disequilibrium blocks across CXCR1/CXCR2 were genotyped in primary family-based (313 cases; 176 nuclear families; 836 individuals) and replication (941 cases; 992 controls) samples. Family- and population-based analyses were performed to look for association between CXCR1/CXCR2 variants and VL. Quantitative RT/PCR was used to compare CXCR1/CXCR2 expression in mRNA from paired splenic aspirates taken before and after treatment from 19 VL patients. Results Family-based analysis using FBAT showed association between VL and SNPs CXCR1_rs2234671 (Z-score = 2.935, P = 0.003) and CXCR1_rs3138060 (Z-score = 2.22, P = 0.026), but not with CXCR2_rs4674259. Logistic regression analysis of the case-control data under an additive model of inheritance showed association between VL and SNPs CXCR2_rs4674259 (OR = 1.15, 95%CI = 1.01-1.31, P = 0.027) and CXCR1_rs3138060 (OR = 1.25, 95%CI = 1.02-1.53, P = 0.028), but not with CXCR1_rs2234671. The 3-locus haplotype T_G_C across these SNPs was shown to be the risk haplotype in both family- (TRANSMIT; P = 0.014) and population- (OR = 1.16, P = 0.028) samples (combined P = 0.002). CXCR2, but not CXCR1, expression was down regulated in pre-treatment compared to post-treatment splenic aspirates (P = 0.021). Conclusions This well-powered primary and replication genetic study, together with functional analysis of gene expression, implicate CXCR2 in determining outcome of VL in India. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

A difficult diagnosis - constrictive pericarditis and its treatment: a case report

Sat, 28 Nov 2009 00:00:00 GMT

Title: A difficult diagnosis - constrictive pericarditis and its treatment: a case report Authors: Altemimi, Harith A; Altaf, Syed Y; James, Rhian K; Nata, Rajah; Kumar, Eshwar B; Codispoti, Max Abstract: Abstract The diagnosis of constrictive pericarditis requires a high degree of clinical suspicion, for the signs and symptoms of this disease can be falsely attributed to other causes. Herein, we present a case of a 70-year old retired farmer whose symptoms of right heart failure were initially attributed to co-existing pneumonia and pulmonary embolism. He was discharged. Three weeks later he presented with worsening breathlessness and ascites. Echocardiography, computed tomography and cardiac catheterization revealed the diagnosis of constrictive pericarditis. He underwent complete pericardectomy and to date has made a good recovery. This case exemplifies the difficulty in diagnosing this condition, the investigation required, and provides a discussion of the benefit and outcomes of prompt treatment. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Evaluation of bleach-sedimentation for sterilising and concentrating Mycobacterium tuberculosis in sputum specimens

Mon, 10 Oct 2011 23:00:00 GMT

Title: Evaluation of bleach-sedimentation for sterilising and concentrating Mycobacterium tuberculosis in sputum specimens Authors: Chew, Rusheng; Calderon, Carmen; Schumacher, Samuel G.; Sherman, Jonathan M.; Caviedes, Luz; Fuentes, Patricia; Coronel, Jorge; Valencia, Teresa; Hererra, Beatriz; Zimic, Mirko; Huaroto, Lucy; Sabogal, Ivan; Escombe, A. Rod; Gilman, Robert H.; Evans, Carlton A. Abstract: Abstract Background Bleach-sedimentation may improve microscopy for diagnosing tuberculosis by sterilising sputum and concentrating Mycobacterium tuberculosis. We studied gravity bleach-sedimentation effects on safety, sensitivity, speed and reliability of smear-microscopy. Methods This blinded, controlled study used sputum specimens (n = 72) from tuberculosis patients. Bleach concentrations and exposure times required to sterilise sputum (n = 31) were determined. In the light of these results, the performance of 5 gravity bleach-sedimentation techniques that sterilise sputum specimens (n = 16) were compared. The best-performing of these bleach-sedimentation techniques involved adding 1 volume of 5% bleach to 1 volume of sputum, shaking for 10-minutes, diluting in 8 volumes distilled water and sedimenting overnight before microscopy. This technique was further evaluated by comparing numbers of visible acid-fast bacilli, slide-reading speed and reliability for triplicate smears before versus after bleach-sedimentation of sputum specimens (n = 25). Triplicate smears were made to increase precision and were stained using the Ziehl-Neelsen method. Results M. tuberculosis in sputum was successfully sterilised by adding equal volumes of 15% bleach for 1-minute, 6% for 5-minutes or 3% for 20-minutes. Bleach-sedimentation significantly decreased the number of acid-fast bacilli visualised compared with conventional smears (geometric mean of acid-fast bacilli per 100 microscopy fields 166, 95%CI 68-406, versus 346, 95%CI 139-862, respectively; p = 0.02). Bleach-sedimentation diluted paucibacillary specimens less than specimens with higher concentrations of visible acid-fast bacilli (p = 0.02). Smears made from bleach-sedimented sputum were read more rapidly than conventional smears (9.6 versus 11.2 minutes, respectively, p = 0.03). Counting conventional acid-fast bacilli had high reliability (inter-observer agreement, r = 0.991) that was significantly reduced (p = 0.03) by bleach-sedimentation (to r = 0.707) because occasional strongly positive bleach-sedimented smears were misread as negative. Conclusions Gravity bleach-sedimentation improved laboratory safety by sterilising sputum but decreased the concentration of acid-fast bacilli visible on microscopy, especially for sputum specimens containing high concentrations of M. tuberculosis. Bleach-sedimentation allowed examination of more of each specimen in the time available but decreased the inter-observer reliability with which slides were read. Thus bleach-sedimentation effects vary depending upon specimen characteristics and whether microscopy was done for a specified time, or until a specified number of microscopy fields had been read. These findings provide an explanation for the contradictory results of previous studies. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Vocation and avocation: Leisure activities correlate with professional engagement, but not burnout, in a cross-sectional survey of UK doctors

Mon, 29 Aug 2011 23:00:00 GMT

Title: Vocation and avocation: Leisure activities correlate with professional engagement, but not burnout, in a cross-sectional survey of UK doctors Authors: McManus, I C; Jonvik, Hallgeir; Richards, Peter; Paice, Elisabeth Abstract: Abstract Background Sir William Osler suggested in 1899 that avocations (leisure activities) in doctors are related to an increased sense of vocation (professional engagement) and a decreased level of burnout. This study evaluated those claims in a large group of doctors practicing in the UK while taking into account a wide range of background variables. Methods A follow-up questionnaire was sent to 4,457 UK-qualified doctors who had been included in four previous studies of medical school selection and training, beginning in 1980, 1985, 1990 and 1989/1991. A total of 2,845 (63.8%) doctors returned the questionnaire. Questions particularly asked about work engagement, satisfaction with medicine as a career, and personal achievement (Vocation/engagement), stress, emotional exhaustion, and depersonalization (BurnedOut), and 29 different leisure activities (Avocation/Leisure), as well as questions on personality, empathy, work experience, and demography. Results Doctors reporting more Avocation/Leisure activities tended to be women, to have older children, to be less surface-rational, more extravert, more open to experience, less agreeable, and to fantasize more. Doctors who were more BurnedOut tended to be men, to be more sleep-deprived, to report a greater workload and less choice and independence in their work, to have higher neuroticism, lower extraversion and lower agreeableness scores, and to have lower self-esteem. In contrast, doctors with a greater sense of Vocation/engagement, tended to see more patients, to have greater choice and independence at work, to have a deep approach to work, to have a more supportive-receptive work environment, to be more extravert and more conscientious, and to report greater self-esteem. Avocation/Leisure activities correlated significantly with Vocation/engagement, even after taking into account 25 background variables describing demography, work, and personality, whereas BurnedOut showed no significant correlation with Avocation/Leisure activities. Popular Culture and High Culture did not differ in their influence on Vocation/engagement, although there was a suggestion that Depersonalization was correlated with more interest in Popular Culture and less interest in High Culture. Conclusion In this cross-sectional study there is evidence, even after taking into account a wide range of individual difference measures, that doctors with greater Avocation/Leisure activities also have a greater sense of Vocation/Engagement. In contrast, being BurnedOut did not relate to Avocation/Leisure activities (but did relate to many other measures). Osler was probably correct in recommending to doctors that, 'While medicine is to be your vocation, or calling, see to it that you also have an avocation'. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Mon, 08 Aug 2011 23:00:00 GMT

Title: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Authors: Gregor, Anne; Albrecht, Beate; Bader, Ingrid; Bijlsma, Emilia K; Ekici, Arif B; Engels, Hartmut; Hackmann, Karl; Horn, Denise; Hoyer, Juliane; Klapecki, Jakub; Kohlhase, Jurgen; Maystadt, Isabelle; Nagl, Sandra; Prott, Eva; Tinschert, Sigrid; Ullmann, Reinhard; Wohlleber, Eva; Woods, Geoffrey; Reis, Andre; Rauch, Anita; Zweier, Christiane Abstract: Abstract Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability. Methods 99 patients with severe intellectual disability and resemblance to Pitt-Hopkins syndrome and/or suspected recessive inheritance were screened for mutations in CNTNAP2 and NRXN1. Molecular karyotyping was performed in 45 patients. In 8 further patients with variable intellectual disability and heterozygous deletions in either CNTNAP2 or NRXN1, the remaining allele was sequenced. Results By molecular karyotyping and mutational screening of CNTNAP2 and NRXN1 in a group of severely intellectually disabled patients we identified a heterozygous deletion in NRXN1 in one patient and heterozygous splice-site, frameshift and stop mutations in CNTNAP2 in four patients, respectively. Neither in these patients nor in eight further patients with heterozygous deletions within NRXN1 or CNTNAP2 we could identify a defect on the second allele. One deletion in NRXN1 and one deletion in CNTNAP2 occurred de novo, in another family the deletion was also identified in the mother who had learning difficulties, and in all other tested families one parent was shown to be healthy carrier of the respective deletion or mutation. Conclusions We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not necessarily located in the same gene. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.

Harnessing the self-harvesting capability of benthic cyanobacteria for use in benthic photobioreactors

Sun, 17 Jul 2011 23:00:00 GMT

Title: Harnessing the self-harvesting capability of benthic cyanobacteria for use in benthic photobioreactors Authors: Esson, Diane; Wood, Susanna A; Packer, Michael A Abstract: Abstract Benthic species of algae and cyanobacteria (i.e., those that grow on surfaces), may provide potential advantages over planktonic species for some commercial-scale biotechnological applications. A multitude of different designs of photobioreactor (PBR) are available for growing planktonic species but to date there has been little research on PBR for benthic algae or cyanobacteria. One notable advantage of some benthic cyanobacterial species is that during their growth cycle they become positively buoyant, detach from the growth surface and form floating mats. This 'self-harvesting' capability could be advantageous in commercial PBRs as it would greatly reduce dewatering costs. In this study we compared the growth rates and efficiency of 'self-harvesting' among three species of benthic cyanobacteria; Phormidium autumnale; Phormidium murrayi and Planktothrix sp.. Phormidium autumnale produced the greatest biomass and formed cohesive mats once detached. Using this strain and an optimised MLA media, a variety of geometries of benthic PBRs (bPBRs) were trialed. The geometry and composition of growth surface had a marked effect on cyanobacterial growth. The highest biomass was achieved in a bPBR comprising of a vertical polyethylene bag with loops of silicone tubing to provide additional growth surfaces. The productivity achieved in this bPBR was a similar order of magnitude as planktonic species, with the additional advantage that towards the end of the exponential phase the bulk of the biomass detached forming a dense mat at the surface of the medium. Description: RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.