1.Cell culture isolation can miss the laboratory diagnosis of HSV ocular infection
Regis P KOWALSKI ; Paul P THOMPSON ; Tara H CRONIN
International Eye Science 2010;10(11):2045-2048
AIM: We compared polymerase chain reaction (PCR) to cell culture isolation for the laboratory diagnosis of ocular herpes simplex virus (HSV) disease.METHODS: Laboratory and medical records of consecutive patients were reviewed for results of (1) HSV PCR testing, (2) HSV cell culture isolation, and (3) clinical diagnosis. PCR results were statistically compared to cell culture isolation and patients initially diagnosed for ocular HSV infection.RESULTS: Of 581 cases submitted for laboratory testing,520 were PCR negative, cell culture negative (89.6%); 0 was PCR negative, cell culture positive (0%); 27 were PCR positive, cell culture negative (4.6%); and 34 were PCR positive, cell culture positive (5. 8%). PCR tested more positive than cell culture isolation (McNemar's, P=0.0001 ). Of 47 HSV PCR positive cases with complete medical records, 19 were cell culture negative for HSV and 28 were cell culture positive for HSV. Fourteen of 19 cell culture negative cases (74%) (Without PCR, 5 cases of HSV would be missed) and 25 of the 28 cell culture positive cases (89%) ( Laboratory testing was necessary for diagnosing 3 cases) were clinically diagnosed with HSV at the initial examination.CONCLUSION: PCR was a more definitive test for diagnosingHSVocularinfectionthancellculture isolation. Cell culture isolation alone can miss an atypical presentation of HSV ocular infection.
2.Gastrulation : Current Concepts and Implications for Spinal Malformations
Journal of Korean Neurosurgical Society 2021;64(3):329-339
It has been recognised for over a century that the events of gastrulation are fundamental in determining, not only the development of the neuraxis but the organisation of the entire primitive embryo. Until recently our understanding of gastrulation was based on detailed histological analysis in animal models and relatively rare human tissue preparations from aborted fetuses. Such studies resulted in a model of gastrulation that neurosurgeons have subsequently used as a means of trying to explain some of the congenital anomalies of caudal spinal cord and vertebral development that present in paediatric neurosurgical practice. Recent advances in developmental biology, in particular cellular biology and molecular genetics have offered new insights into very early development. Understanding the processes that underlie cellular interactions, gene expression and activation/inhibition of signalling pathways has changed the way embryologists view gastrulation and this has led to a shift in emphasis from the ‘descriptive and morphological’ to the ‘mechanistic and functional’. Unfortunately, thus far it has proved difficult to translate this improved knowledge of normal development, typically derived from non-human models, into an understanding of the mechanisms underlying human malformations such as the spinal dysraphisms and anomalies of caudal development. A paediatric neurosurgeons perspective of current concepts in gastrulation is presented along with a critical review of the current hypotheses of human malformations that have been attributed to disorders of this stage of embryogenesis.
3.Gastrulation : Current Concepts and Implications for Spinal Malformations
Journal of Korean Neurosurgical Society 2021;64(3):329-339
It has been recognised for over a century that the events of gastrulation are fundamental in determining, not only the development of the neuraxis but the organisation of the entire primitive embryo. Until recently our understanding of gastrulation was based on detailed histological analysis in animal models and relatively rare human tissue preparations from aborted fetuses. Such studies resulted in a model of gastrulation that neurosurgeons have subsequently used as a means of trying to explain some of the congenital anomalies of caudal spinal cord and vertebral development that present in paediatric neurosurgical practice. Recent advances in developmental biology, in particular cellular biology and molecular genetics have offered new insights into very early development. Understanding the processes that underlie cellular interactions, gene expression and activation/inhibition of signalling pathways has changed the way embryologists view gastrulation and this has led to a shift in emphasis from the ‘descriptive and morphological’ to the ‘mechanistic and functional’. Unfortunately, thus far it has proved difficult to translate this improved knowledge of normal development, typically derived from non-human models, into an understanding of the mechanisms underlying human malformations such as the spinal dysraphisms and anomalies of caudal development. A paediatric neurosurgeons perspective of current concepts in gastrulation is presented along with a critical review of the current hypotheses of human malformations that have been attributed to disorders of this stage of embryogenesis.
4.Gene Interactions and Structural Brain Change in Early-Onset Alzheimer's Disease Subjects Using the Pipeline Environment.
Seok Woo MOON ; Ivo D DINOV ; Alen ZAMANYAN ; Ran SHI ; Alex GENCO ; Sam HOBEL ; Paul M THOMPSON ; Arthur W TOGA
Psychiatry Investigation 2015;12(1):125-135
OBJECTIVE: This article investigates subjects aged 55 to 65 from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database to broaden our understanding of early-onset (EO) cognitive impairment using neuroimaging and genetics biomarkers. METHODS: Nine of the subjects had EO-AD (Alzheimer's disease) and 27 had EO-MCI (mild cognitive impairment). The 15 most important neuroimaging markers were extracted with the Global Shape Analysis (GSA) Pipeline workflow. The 20 most significant single nucleotide polymorphisms (SNPs) were chosen and were associated with specific neuroimaging biomarkers. RESULTS: We identified associations between the neuroimaging phenotypes and genotypes for a total of 36 subjects. Our results for all the subjects taken together showed the most significant associations between rs7718456 and L_hippocampus (volume), and between rs7718456 and R_hippocampus (volume). For the 27 MCI subjects, we found the most significant associations between rs6446443 and R_superior_frontal_gyrus (volume), and between rs17029131 and L_Precuneus (volume). For the nine AD subjects, we found the most significant associations between rs16964473 and L_rectus gyrus (surface area), and between rs12972537 and L_rectus_gyrus (surface area). CONCLUSION: We observed significant correlations between the SNPs and the neuroimaging phenotypes in the 36 EO subjects in terms of neuroimaging genetics. However, larger sample sizes are needed to ensure that the effects will be detectable for a reasonable false-positive error rate using the GSA and Plink Pipeline workflows.
Alzheimer Disease*
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Biomarkers
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Brain*
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Genetics
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Genotype
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Memory
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Mild Cognitive Impairment
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Neuroimaging
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Phenotype
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Polymorphism, Single Nucleotide
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Sample Size
5.Implementing hospital-based surveillance for severe acute respiratory infections caused by influenza and other respiratory pathogens in New Zealand
Q Sue Huang ; Michael Baker ; Colin McArthur ; Sally Roberts ; Deborah Williamson ; Cameron Grant ; Adrian Trenholme ; Conroy Wong ; Susan Taylor ; Lyndsay LeComte ; Graham Mackereth ; Don Bandaranayake ; Tim Wood ; Ange Bissielo ; Ruth Se ; Nikki Turner ; Nevil Pierse ; Paul Thomas ; Richard Webby ; Diane Gross ; Jazmin Duque ; Mark Thompson ; Marc-Alain Widdowson
Western Pacific Surveillance and Response 2014;5(2):23-30
Recent experience with pandemic influenza A(H1N1)pdm09 highlighted the importance of global surveillance for severe respiratory disease to support pandemic preparedness and seasonal influenza control. Improved surveillance in the southern hemisphere is needed to provide critical data on influenza epidemiology, disease burden, circulating strains and effectiveness of influenza prevention and control measures. Hospital-based surveillance for severe acute respiratory infection (SARI) cases was established in New Zealand on 30 April 2012. The aims were to measure incidence, prevalence, risk factors, clinical spectrum and outcomes for SARI and associated influenza and other respiratory pathogen cases as well as to understand influenza contribution to patients not meeting SARI case definition.All inpatients with suspected respiratory infections who were admitted overnight to the study hospitals were screened daily. If a patient met the World Health Organization’s SARI case definition, a respiratory specimen was tested for influenza and other respiratory pathogens. A case report form captured demographics, history of presenting illness, co-morbidities, disease course and outcome and risk factors. These data were supplemented from electronic clinical records and other linked data sources.Hospital-based SARI surveillance has been implemented and is fully functioning in New Zealand. Active, prospective, continuous, hospital-based SARI surveillance is useful in supporting pandemic preparedness for emerging influenza A(H7N9) virus infections and seasonal influenza prevention and control.
6.Reducing Dimension of Biomechanical Parameters of On-Water Rowing Technique and its Application in Rowing Training
Zhiqiang LIANG ; Jiaojiao LÜ ; PAUL THOMPSON ; Yu LIU
Journal of Medical Biomechanics 2021;36(4):E519-E527
Objective To extract key parameters from a series of biomechanical parameters of rowing technique, so as to provide useful information for coach training. Methods Based on rowing performance of 16 rowers in national team, the factor analysis was used to extract reducing dimension of biomechanical parameters of rowing technique of 80 oxygen utilisation 2 (UT2) training pieces. Results The biomechanical parameters of rowing techniques were classified as technical characteristic factors (angle of 70% peak force, work portion of per 25% stroke length, drive start time, finish slip, position of peak force and angle of peak force), power factor (rower power, average of boat power, port swivel power and stroke swivel power), stroke length factor (catch angle and finish angle) and oar’s motion factor (recovery time, stroke rate and distance of per stroke). Conclusions Monitoring and analyzing these biomechanical factors would contribute coaches and scientific researchers to accurately judge the technical characteristics and shortcomings of rowers.
7.Identification of new genetic risk factors for prostate cancer.
Michelle GUY ; Zsofia KOTE-JARAI ; Graham G GILES ; Ali Amin Al OLAMA ; Sarah K JUGURNAUTH ; Shani MULHOLLAND ; Daniel A LEONGAMORNLERT ; Stephen M EDWARDS ; Jonathan MORRISON ; Helen I FIELD ; Melissa C SOUTHEY ; Gianluca SEVERI ; Jenny L DONOVAN ; Freddie C HAMDY ; David P DEARNALEY ; Kenneth R MUIR ; Charmaine SMITH ; Melisa BAGNATO ; Audrey T ARDERN-JONES ; Amanda L HALL ; Lynne T O'BRIEN ; Beatrice N GEHR-SWAIN ; Rosemary A WILKINSON ; Angela COX ; Sarah LEWIS ; Paul M BROWN ; Sameer G JHAVAR ; Malgorzata TYMRAKIEWICZ ; Artitaya LOPHATANANON ; Sarah L BRYANT ; null ; null ; null ; Alan HORWICH ; Robert A HUDDART ; Vincent S KHOO ; Christopher C PARKER ; Christopher J WOODHOUSE ; Alan THOMPSON ; Tim CHRISTMAS ; Chris OGDEN ; Cyril FISHER ; Charles JAMESON ; Colin S COOPER ; Dallas R ENGLISH ; John L HOPPER ; David E NEAL ; Douglas F EASTON ; Rosalind A EELES
Asian Journal of Andrology 2009;11(1):49-55
There is evidence that a substantial part of genetic predisposition to prostate cancer (PCa) may be due to lower penetrance genes which are found by genome-wide association studies. We have recently conducted such a study and seven new regions of the genome linked to PCa risk have been identified. Three of these loci contain candidate susceptibility genes: MSMB, LMTK2 and KLK2/3. The MSMB and KLK2/3 genes may be useful for PCa screening, and the LMTK2 gene might provide a potential therapeutic target. Together with results from other groups, there are now 23 germline genetic variants which have been reported. These results have the potential to be developed into a genetic test. However, we consider that marketing of tests to the public is premature, as PCa risk can not be evaluated fully at this stage and the appropriate screening protocols need to be developed. Follow-up validation studies, as well as studies to explore the psychological implications of genetic profile testing, will be vital prior to roll out into healthcare.
Genetic Predisposition to Disease
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genetics
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Genetic Testing
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Humans
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Kallikreins
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genetics
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Male
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Membrane Proteins
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genetics
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Prostatic Neoplasms
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diagnosis
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genetics
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Prostatic Secretory Proteins
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genetics
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Protein-Serine-Threonine Kinases
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genetics
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Risk Factors