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Sample records for patients imaging genetics

  1. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

    Science.gov (United States)

    Kato, Fumiko; Hamajima, Takashi; Hasegawa, Tomonobu; Amano, Naoko; Horikawa, Reiko; Nishimura, Gen; Nakashima, Shinichi; Fuke, Tomoko; Sano, Shinichirou; Fukami, Maki; Ogata, Tsutomu

    2014-05-01

    Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients. We studied a 46,XX patient aged 8·5 years (case 1) and two 46,XY patients aged 16·5 and 15·0 years (cases 2 and 3). Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity in IMAGe syndrome. © 2013 John Wiley & Sons Ltd.

  2. Diagnosing ARVC in Pediatric Patients Applying the Revised Task Force Criteria: Importance of Imaging, 12-Lead ECG, and Genetics.

    Science.gov (United States)

    Steinmetz, Michael; Krause, Ulrich; Lauerer, Peter; Konietschke, Frank; Aguayo, Randolph; Ritter, Christian Oliver; Schuster, Andreas; Lotz, Joachim; Paul, Thomas; Staab, Wieland

    2018-05-12

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially lethal disease that is well described in adults. In pediatric patients, however, identification of patients at risk of adverse events of ARVC remains a challenge. We aimed to determine which criteria of the revised Task Force Criteria (rTFC), alone or combined, have an impact on diagnosis of ARVC when compared to disease-specific genetic mutations in pediatric patients ≤ 18 years. Between September 2010 and December 2013, 48 consecutive young patients ≤ 18 years of age (mean 14, range of 12.9-15.1 years) underwent contrast-enhanced magnetic resonance imaging (CMR), genetic testing, and comprehensive clinical work-up for ARVC criteria to test for clinically suspected ARVC. As specified by the rTFC, patients were grouped into four categories: "definite," "borderline," "possible," and "none" ARVC. Of the 48 patients, 12 were found to have gene mutations of either the desmoplakin (9/12) or plakophilin (3/12) locus. According to rTFC 12/48 patients were considered as "definite" ARVC (25%), while 10/12 (83.3%) had an ARVC-specific gene mutation. Of the remaining 36 patients, 6 (12.5%) were grouped as "borderline" ARVC, 7 (14.6%) as "possible" ARVC (including the remaining two genetic mutations), and 22 (45.8%) as "none" ARVC, respectively. Statistical analysis of ARVC criteria in patients diagnosed with "definite" ARVC revealed high prevalence of positive findings by imaging (CMR and echocardiography) and positive genetics. The positive predictive value to detect "definite" ARVC by genotyping was 83.3%, while the negative predictive value was 94%. Logistic regression analyses for different criteria combinations revealed that imaging modalities (echo and CMR combined) and abnormalities of 12-lead ECG were significant markers (p < 0.01). Positive results of endomyocardial biopsies or arrhythmia on ECG or Holter as defined by the rTFC were not significant in this analysis. The rTFC for

  3. Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP).

    Science.gov (United States)

    Chen, Bin; Niu, Songtao; Wang, Xingao; Li, Wei; Chen, Na; Zhang, Zaiqiang

    2018-02-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene. This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP. Age of onset was within the second decade in five patients, and 46 years of age in one patient. Weakness or numbness in a unilateral lower extremity was the most common symptom in 5 patients, and bilateral sensorineural hearing loss was also detected in one patient. Electrophysiological presentations suggested demyelinating sensory-motor polyneuropathy in the group. Magnetic resonance imaging (MRI) of the cervical and lumbar spine revealed varying degrees of degeneration in five patients, and mild kyphosis of cervical vertebral bodies in 2 teen-aged patients. In addition, cranial MRI of one patient showed scattered demyelination in the frontal lobes. Targeted next-generation-sequencing (NGS) revealed a PMP22 deletion in five patients and a heterozygous c.199G>A mutation in exon 4 of PMP22 in one patient. The I92V variant of lipopolysaccharide-induced tumor necrosis factor (LITAF) gene was found in one patient. There was no relationship between the Ile92Val variant of LITAF and age of onset in this group, albeit the sample size was very small. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Imaging-Genetics Applications in Child Psychiatry

    Science.gov (United States)

    Pine, Daniel S.; Ernst, Monique; Leibenluft, Ellen

    2010-01-01

    Objective: To place imaging-genetics research in the context of child psychiatry. Method: A conceptual overview is provided, followed by discussion of specific research examples. Results: Imaging-genetics research is described linking brain function to two specific genes, for the serotonin-reuptake-transporter protein and a monoamine oxidase…

  5. Fetal magnetic resonance imaging and human genetics

    International Nuclear Information System (INIS)

    Hengstschlaeger, Markus

    2006-01-01

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data

  6. Fetal magnetic resonance imaging and human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Hengstschlaeger, Markus [Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)]. E-mail: markus.hengstschlaeger@meduniwien.ac.at

    2006-02-15

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data.

  7. Medical image segmentation using genetic algorithms.

    Science.gov (United States)

    Maulik, Ujjwal

    2009-03-01

    Genetic algorithms (GAs) have been found to be effective in the domain of medical image segmentation, since the problem can often be mapped to one of search in a complex and multimodal landscape. The challenges in medical image segmentation arise due to poor image contrast and artifacts that result in missing or diffuse organ/tissue boundaries. The resulting search space is therefore often noisy with a multitude of local optima. Not only does the genetic algorithmic framework prove to be effective in coming out of local optima, it also brings considerable flexibility into the segmentation procedure. In this paper, an attempt has been made to review the major applications of GAs to the domain of medical image segmentation.

  8. Liposarcoma or lipoma: Does genetics change classic imaging criteria?

    International Nuclear Information System (INIS)

    Bidault, F.; Vanel, D.; Terrier, Ph.; Jalaguier, A.; Bonvalot, S.; Pedeutour, F.; Couturier, J.M.; Dromain, C.

    2009-01-01

    Differentiating benign from malignant fatty tumours has always been very difficult for both radiologists and pathologists. Cytogenetic and molecular genetic analyses provide complementary tools for differentiating soft tissue tumours. Our objective was to compare imaging criteria of malignancy with a new diagnostic gold standard, namely, pathological analysis combined with cytogenetic and molecular genetic analyses. Nineteen patients with a fatty tumour were included. All had computed tomography and/or magnetic resonance imaging examination before any biopsy or surgery. All had histopathological and cytogenetic and/or molecular genetic analyses. The imaging diagnosis of benign or malignant lesions was accurate in 15 cases, with 4 false positives for malignancy. Erroneous criteria were a large size (4 cases), and a mass that was not purely fatty. In conclusion, the main pitfall for a false positive radiological diagnosis of liposarcoma is certainly a large-sized tumour. Cytogenetic and molecular genetic analyses contribute to the diagnosis and can be performed at the same time with a core biopsy.

  9. Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype.

    Science.gov (United States)

    Keil, V C; Warmuth-Metz, M; Reh, C; Enkirch, S J; Reinert, C; Beier, D; Jones, D T W; Pietsch, T; Schild, H H; Hattingen, E; Hau, P

    2017-10-01

    The occurrence of medulloblastomas in adults is rare; nevertheless, these tumors can be subdivided into genetic and histologic entities each having distinct prognoses. This study aimed to identify MR imaging biomarkers to classify these entities and to uncover differences in MR imaging biomarkers identified in pediatric medulloblastomas. Eligible preoperative MRIs from 28 patients (11 women; 22-53 years of age) of the Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-7) cohort were assessed by 3 experienced neuroradiologists. Lesions and perifocal edema were volumetrized and multiparametrically evaluated for classic morphologic characteristics, location, hydrocephalus, and Chang criteria. To identify MR imaging biomarkers, we correlated genetic entities sonic hedgehog ( SHH ) TP53 wild type, wingless ( WNT ), and non -WNT/ non -SHH medulloblastomas (in adults, Group 4), and histologic entities were correlated with the imaging criteria. These MR imaging biomarkers were compared with corresponding data from a pediatric study. There were 19 SHH TP53 wild type (69%), 4 WNT -activated (14%), and 5 Group 4 (17%) medulloblastomas. Six potential MR imaging biomarkers were identified, 3 of which, hydrocephalus ( P = .03), intraventricular macrometastases ( P = .02), and hemorrhage ( P = .04), when combined, could identify WNT medulloblastoma with 100% sensitivity and 88.3% specificity (95% CI, 39.8%-100.0% and 62.6%-95.3%). WNT -activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm 3 versus 35.1-47.6 cm 3 ; P = .03). Hemorrhage was exclusively present in non -WNT/ non -SHH medulloblastomas ( P = .04; n = 2/5). MR imaging biomarkers were all discordant from those identified in the pediatric cohort. Desmoplastic/nodular medulloblastomas were more rarely in contact with the fourth ventricle (4/15 versus 7/13; P = .04). MR imaging biomarkers can help distinguish histologic and genetic

  10. Molecular–Genetic Imaging: A Nuclear Medicine–Based Perspective

    Directory of Open Access Journals (Sweden)

    Ronald G. Blasberg

    2002-07-01

    Full Text Available Molecular imaging is a relatively new discipline, which developed over the past decade, initially driven by in situ reporter imaging technology. Noninvasive in vivo molecular–genetic imaging developed more recently and is based on nuclear (positron emission tomography [PET], gamma camera, autoradiography imaging as well as magnetic resonance (MR and in vivo optical imaging. Molecular–genetic imaging has its roots in both molecular biology and cell biology, as well as in new imaging technologies. The focus of this presentation will be nuclear-based molecular–genetic imaging, but it will comment on the value and utility of combining different imaging modalities. Nuclear-based molecular imaging can be viewed in terms of three different imaging strategies: (1 “indirect” reporter gene imaging; (2 “direct” imaging of endogenous molecules; or (3 “surrogate” or “bio-marker” imaging. Examples of each imaging strategy will be presented and discussed. The rapid growth of in vivo molecular imaging is due to the established base of in vivo imaging technologies, the established programs in molecular and cell biology, and the convergence of these disciplines. The development of versatile and sensitive assays that do not require tissue samples will be of considerable value for monitoring molecular–genetic and cellular processes in animal models of human disease, as well as for studies in human subjects in the future. Noninvasive imaging of molecular–genetic and cellular processes will complement established ex vivo molecular–biological assays that require tissue sampling, and will provide a spatial as well as a temporal dimension to our understanding of various diseases and disease processes.

  11. Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss.

    Science.gov (United States)

    Gruber, M; Brown, C; Mahadevan, M; Neeff, M

    2017-08-01

    To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss. A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution. Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing. Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

  12. A review of multivariate analyses in imaging genetics

    Directory of Open Access Journals (Sweden)

    Jingyu eLiu

    2014-03-01

    Full Text Available Recent advances in neuroimaging technology and molecular genetics provide the unique opportunity to investigate genetic influence on the variation of brain attributes. Since the year 2000, when the initial publication on brain imaging and genetics was released, imaging genetics has been a rapidly growing research approach with increasing publications every year. Several reviews have been offered to the research community focusing on various study designs. In addition to study design, analytic tools and their proper implementation are also critical to the success of a study. In this review, we survey recent publications using data from neuroimaging and genetics, focusing on methods capturing multivariate effects accommodating the large number of variables from both imaging data and genetic data. We group the analyses of genetic or genomic data into either a prior driven or data driven approach, including gene-set enrichment analysis, multifactor dimensionality reduction, principal component analysis, independent component analysis (ICA, and clustering. For the analyses of imaging data, ICA and extensions of ICA are the most widely used multivariate methods. Given detailed reviews of multivariate analyses of imaging data available elsewhere, we provide a brief summary here that includes a recently proposed method known as independent vector analysis. Finally, we review methods focused on bridging the imaging and genetic data by establishing multivariate and multiple genotype-phenotype associations, including sparse partial least squares, sparse canonical correlation analysis, sparse reduced rank regression and parallel ICA. These methods are designed to extract latent variables from both genetic and imaging data, which become new genotypes and phenotypes, and the links between the new genotype-phenotype pairs are maximized using different cost functions. The relationship between these methods along with their assumptions, advantages, and

  13. Iridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?

    Science.gov (United States)

    Danias, J; Aslanides, I M; Eichenbaum, J W; Silverman, R H; Reinstein, D Z; Coleman, D J

    1996-01-01

    AIMS: To elucidate changes in the anatomy of the anterior chamber associated with iridoschisis, a rare form of iris atrophy, and their potential contribution to angle closure glaucoma. METHODS: Both eyes of a 71-year-old woman with bilateral iridoschisis and fibrous dysplasia and her asymptomatic 50-year-old daughter were scanned with a very high frequency (50 MHz) ultrasound system. RESULTS: The symptomatic patient exhibited diffuse changes in the iris stoma with an intact posterior iris pigmented layer in both eyes. These changes were clinically compatible with the lack of iris transillumination defects. Additionally, iris bowing with a resultant narrowing of the angle occurred. The asymptomatic daughter showed discrete, but less severe iris stromal changes. CONCLUSION: This is the first detailed study of high frequency ultrasonic imaging of the iris in iridoschisis. The observed structural changes suggest angle narrowing by forward bowing of the anterior iris stroma may be a mechanism of IOP elevation in this condition. The ultrasonic detection of iris changes in the asymptomatic daughter of the symptomatic patient and the association of iridoschisis with fibrous dysplasia suggest a possible genetic component in the pathogenesis of this condition. Images PMID:9059271

  14. Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    Objective: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  15. Perceived genetic knowledge, attitudes toward genetic testing, and the relationship between these among patients with a chronic disease.

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    OBJECTIVE: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  16. Abdominal imaging in AIDS patients

    International Nuclear Information System (INIS)

    Zhao Dawei; Wang Wei; Yuan Chunwang; Jia Cuiyu; Zhao Xuan; Zhang Tong; Ma Daqing

    2007-01-01

    Objective: To evaluate abdominal imaging in AIDS. Methods: The imaging examinations (including US, CT and MR) of 6 patients with AIDS associated abdominal foci were analysed retrospectively. All the cases were performed US, and CT scan, of which 4 performed enhanced CT scan and 1 with MR. Results: Abdominal tuberculosis were found in 4 patients, including abdominal lymph nodes tuberculosis (3 cases) and pancreatic tuberculosis (1 case). The imaging of lymph nodes tuberculosis typically showed enlarged peripheral tim enhancement with central low-attenuation on contrast-enhanced CT. Pancreatic tuberculosis demonstrated low-attenuation area in pancreatic head and slightly peripheral enhancement. Disseminated Kaposi's sarcoma was seen in 1 case: CT and MRI scan demonstrated tumour infiltrated along hepatic portal vein and bronchovascular bundles. Pelvic tumor was observed in 1 case: CT scan showed large mass with thick and irregular wall and central low attenuation liquefacient necrotic area in the pelvic cavity. Conclusion: The imaging findings of AIDS with abdominal foci is extraordinarily helpful to the diagnosis of such disease. Tissue biopsy is needed to confirm the diagnosis. (authors)

  17. Optimization-Based Image Segmentation by Genetic Algorithms

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    Rosenberger C

    2008-01-01

    Full Text Available Abstract Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

  18. Optimization-Based Image Segmentation by Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    H. Laurent

    2008-05-01

    Full Text Available Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

  19. Spatial correlation genetic algorithm for fractal image compression

    International Nuclear Information System (INIS)

    Wu, M.-S.; Teng, W.-C.; Jeng, J.-H.; Hsieh, J.-G.

    2006-01-01

    Fractal image compression explores the self-similarity property of a natural image and utilizes the partitioned iterated function system (PIFS) to encode it. This technique is of great interest both in theory and application. However, it is time-consuming in the encoding process and such drawback renders it impractical for real time applications. The time is mainly spent on the search for the best-match block in a large domain pool. In this paper, a spatial correlation genetic algorithm (SC-GA) is proposed to speed up the encoder. There are two stages for the SC-GA method. The first stage makes use of spatial correlations in images for both the domain pool and the range pool to exploit local optima. The second stage is operated on the whole image to explore more adequate similarities if the local optima are not satisfied. With the aid of spatial correlation in images, the encoding time is 1.5 times faster than that of traditional genetic algorithm method, while the quality of the retrieved image is almost the same. Moreover, about half of the matched blocks come from the correlated space, so fewer bits are required to represent the fractal transform and therefore the compression ratio is also improved

  20. Genetic and Non-genetic Factors Associated WithConstipation in Cancer Patients Receiving Opioids

    OpenAIRE

    Laugsand, Eivor Alette; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

    2015-01-01

    Objectives: To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Methods: Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation a...

  1. Imaging and cognitive genetics: the Norwegian Cognitive NeuroGenetics sample.

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    Espeseth, Thomas; Christoforou, Andrea; Lundervold, Astri J; Steen, Vidar M; Le Hellard, Stephanie; Reinvang, Ivar

    2012-06-01

    Data collection for the Norwegian Cognitive NeuroGenetics sample (NCNG) was initiated in 2003 with a research grant (to Ivar Reinvang) to study cognitive aging, brain function, and genetic risk factors. The original focus was on the effects of aging (from middle age and up) and candidate genes (e.g., APOE, CHRNA4) in cross-sectional and longitudinal designs, with the cognitive and MRI-based data primarily being used for this purpose. However, as the main topic of the project broadened from cognitive aging to imaging and cognitive genetics more generally, the sample size, age range of the participants, and scope of available phenotypes and genotypes, have developed beyond the initial project. In 2009, a genome-wide association (GWA) study was undertaken, and the NCNG proper was established to study the genetics of cognitive and brain function more comprehensively. The NCNG is now controlled by the NCNG Study Group, which consists of the present authors. Prominent features of the NCNG are the adult life-span coverage of healthy participants with high-dimensional imaging, and cognitive data from a genetically homogenous sample. Another unique property is the large-scale (sample size 300-700) use of experimental cognitive tasks focusing on attention and working memory. The NCNG data is now used in numerous ongoing GWA-based studies and has contributed to several international consortia on imaging and cognitive genetics. The objective of the following presentation is to give other researchers the information necessary to evaluate possible contributions from the NCNG to various multi-sample data analyses.

  2. An imaging genetics approach to understanding social influence

    Directory of Open Access Journals (Sweden)

    Emily eFalk

    2012-06-01

    Full Text Available Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain’s reward system. We next review neuroimaging evidence linking social punishment (exclusion to brain systems involved in the experience of pain, as well as evidence linking exclusion to conformity. We suggest that genetic variants that increase sensitivity to social cues may predispose individuals to be more sensitive to either social rewards or punishments (or potentially both, which in turn increases conformity and susceptibility to normative social influences more broadly. To this end, we review evidence for genetic moderators of neurochemical responses in the brain, and suggest ways in which genes and pharmacology may modulate sensitivity to social influences. We conclude by proposing an integrative imaging genetics approach to the study of brain mediators and genetic modulators of a variety of social influences on human attitudes, beliefs, and actions.

  3. An imaging genetics approach to understanding social influence.

    Science.gov (United States)

    Falk, Emily B; Way, Baldwin M; Jasinska, Agnes J

    2012-01-01

    Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain's reward system. We next review neuroimaging evidence linking social punishment (exclusion) to brain systems involved in the experience of pain, as well as evidence linking exclusion to conformity. We suggest that genetic variants that increase sensitivity to social cues may predispose individuals to be more sensitive to either social rewards or punishments (or potentially both), which in turn increases conformity and susceptibility to normative social influences more broadly. To this end, we review evidence for genetic moderators of neurochemical responses in the brain, and suggest ways in which genes and pharmacology may modulate sensitivity to social influences. We conclude by proposing an integrative imaging genetics approach to the study of brain mediators and genetic modulators of a variety of social influences on human attitudes, beliefs, and actions.

  4. Digital Image Encryption Algorithm Design Based on Genetic Hyperchaos

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    Jian Wang

    2016-01-01

    Full Text Available In view of the present chaotic image encryption algorithm based on scrambling (diffusion is vulnerable to choosing plaintext (ciphertext attack in the process of pixel position scrambling, we put forward a image encryption algorithm based on genetic super chaotic system. The algorithm, by introducing clear feedback to the process of scrambling, makes the scrambling effect related to the initial chaos sequence and the clear text itself; it has realized the image features and the organic fusion of encryption algorithm. By introduction in the process of diffusion to encrypt plaintext feedback mechanism, it improves sensitivity of plaintext, algorithm selection plaintext, and ciphertext attack resistance. At the same time, it also makes full use of the characteristics of image information. Finally, experimental simulation and theoretical analysis show that our proposed algorithm can not only effectively resist plaintext (ciphertext attack, statistical attack, and information entropy attack but also effectively improve the efficiency of image encryption, which is a relatively secure and effective way of image communication.

  5. First results of genetic algorithm application in ML image reconstruction in emission tomography

    International Nuclear Information System (INIS)

    Smolik, W.

    1999-01-01

    This paper concerns application of genetic algorithm in maximum likelihood image reconstruction in emission tomography. The example of genetic algorithm for image reconstruction is presented. The genetic algorithm was based on the typical genetic scheme modified due to the nature of solved problem. The convergence of algorithm was examined. The different adaption functions, selection and crossover methods were verified. The algorithm was tested on simulated SPECT data. The obtained results of image reconstruction are discussed. (author)

  6. Imaging dynamic redox processes with genetically encoded probes.

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    Ezeriņa, Daria; Morgan, Bruce; Dick, Tobias P

    2014-08-01

    Redox signalling plays an important role in many aspects of physiology, including that of the cardiovascular system. Perturbed redox regulation has been associated with numerous pathological conditions; nevertheless, the causal relationships between redox changes and pathology often remain unclear. Redox signalling involves the production of specific redox species at specific times in specific locations. However, until recently, the study of these processes has been impeded by a lack of appropriate tools and methodologies that afford the necessary redox species specificity and spatiotemporal resolution. Recently developed genetically encoded fluorescent redox probes now allow dynamic real-time measurements, of defined redox species, with subcellular compartment resolution, in intact living cells. Here we discuss the available genetically encoded redox probes in terms of their sensitivity and specificity and highlight where uncertainties or controversies currently exist. Furthermore, we outline major goals for future probe development and describe how progress in imaging methodologies will improve our ability to employ genetically encoded redox probes in a wide range of situations. This article is part of a special issue entitled "Redox Signalling in the Cardiovascular System." Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights.

    Science.gov (United States)

    Parwani, Purvi; Avierinos, Jean-Francois; Levine, Robert A; Delling, Francesca N

    Mitral valve prolapse (MVP) is a common heritable valvulopathy affecting approximately 2.4% of the population. It is the most important cause of primary mitral regurgitation (MR) requiring surgery. MVP is characterized by fibromyxomatous changes and displacement of one or both mitral leaflets into the left atrium. Echocardiography represents the primary diagnostic modality for assessment of MVP. Accurate quantitation of ventricular volumes and function for surgical planning in asymptomatic severe MR can be provided with both echocardiography and cardiac magnetic resonance. In addition, assessment of myocardial fibrosis using late gadolinium enhancement and T1 mapping allows better understanding of the impact of MVP on the myocardium. Imaging in MVP is important not only for diagnostic and prognostic purposes, but is also essential for detailed phenotyping in genetic studies. Genotype-phenotype studies in MVP pedigrees have allowed the identification of milder, non-diagnostic MVP morphologies by echocardiography. Such morphologies represent early expression of MVP in gene carriers. This review focuses on multimodality imaging and the phenotypic spectrum of MVP. Moreover, the review details the recent genetic discoveries that have increased our understanding of the pathophysiology of MVP, with clues to mechanisms and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Combinations of Genetic Variants Occurring Exclusively in Patients

    Directory of Open Access Journals (Sweden)

    Erling Mellerup

    Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

  9. Thallium-201 stress imaging in hypertensive patients

    International Nuclear Information System (INIS)

    Schulman, D.S.; Francis, C.K.; Black, H.R.; Wackers, F.J.

    1987-01-01

    To assess the potential effect of hypertension on the results of thallium-201 stress imaging in patients with chest pain, 272 thallium-201 stress tests performed in 133 hypertensive patients and 139 normotensive patients over a 1-year period were reviewed. Normotensive and hypertensive patients were similar in age, gender distribution, prevalence of cardiac risk factors (tobacco smoking, hyperlipidemia, and diabetes mellitus), medications, and clinical symptoms of coronary disease. Electrocardiographic criteria for left ventricular hypertrophy were present in 16 hypertensive patients. Stepwise probability analysis was used to determine the likelihood of coronary artery disease for each patient. In patients with mid to high likelihood of coronary disease (greater than 25% probability), abnormal thallium-201 stress images were present in 54 of 60 (90%) hypertensive patients compared with 51 of 64 (80%) normotensive patients. However, in 73 patients with a low likelihood of coronary disease (less than or equal to 25% probability), abnormal thallium-201 stress images were present in 21 patients (29%) of the hypertensive group compared with only 5 of 75 (7%) of the normotensive patients (p less than 0.001). These findings suggest that in patients with a mid to high likelihood of coronary artery disease, coexistent hypertension does not affect the results of thallium-201 exercise stress testing. However, in patients with a low likelihood of coronary artery disease, abnormal thallium-201 stress images are obtained more frequently in hypertensive patients than in normotensive patients

  10. Developmental imaging genetics: linking dopamine function to adolescent behavior.

    Science.gov (United States)

    Padmanabhan, Aarthi; Luna, Beatriz

    2014-08-01

    Adolescence is a period of development characterized by numerous neurobiological changes that significantly influence behavior and brain function. Adolescence is of particular interest due to the alarming statistics indicating that mortality rates increase two to three-fold during this time compared to childhood, due largely to a peak in risk-taking behaviors resulting from increased impulsivity and sensation seeking. Furthermore, there exists large unexplained variability in these behaviors that are in part mediated by biological factors. Recent advances in molecular genetics and functional neuroimaging have provided a unique and exciting opportunity to non-invasively study the influence of genetic factors on brain function in humans. While genes do not code for specific behaviors, they do determine the structure and function of proteins that are essential to the neuronal processes that underlie behavior. Therefore, studying the interaction of genotype with measures of brain function over development could shed light on critical time points when biologically mediated individual differences in complex behaviors emerge. Here we review animal and human literature examining the neurobiological basis of adolescent development related to dopamine neurotransmission. Dopamine is of critical importance because of (1) its role in cognitive and affective behaviors, (2) its role in the pathogenesis of major psychopathology, and (3) the protracted development of dopamine signaling pathways over adolescence. We will then focus on current research examining the role of dopamine-related genes on brain function. We propose the use of imaging genetics to examine the influence of genetically mediated dopamine variability on brain function during adolescence, keeping in mind the limitations of this approach. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. A hybrid correlation analysis with application to imaging genetics

    Science.gov (United States)

    Hu, Wenxing; Fang, Jian; Calhoun, Vince D.; Wang, Yu-Ping

    2018-03-01

    Investigating the association between brain regions and genes continues to be a challenging topic in imaging genetics. Current brain region of interest (ROI)-gene association studies normally reduce data dimension by averaging the value of voxels in each ROI. This averaging may lead to a loss of information due to the existence of functional sub-regions. Pearson correlation is widely used for association analysis. However, it only detects linear correlation whereas nonlinear correlation may exist among ROIs. In this work, we introduced distance correlation to ROI-gene association analysis, which can detect both linear and nonlinear correlations and overcome the limitation of averaging operations by taking advantage of the information at each voxel. Nevertheless, distance correlation usually has a much lower value than Pearson correlation. To address this problem, we proposed a hybrid correlation analysis approach, by applying canonical correlation analysis (CCA) to the distance covariance matrix instead of directly computing distance correlation. Incorporating CCA into distance correlation approach may be more suitable for complex disease study because it can detect highly associated pairs of ROI and gene groups, and may improve the distance correlation level and statistical power. In addition, we developed a novel nonlinear CCA, called distance kernel CCA, which seeks the optimal combination of features with the most significant dependence. This approach was applied to imaging genetic data from the Philadelphia Neurodevelopmental Cohort (PNC). Experiments showed that our hybrid approach produced more consistent results than conventional CCA across resampling and both the correlation and statistical significance were increased compared to distance correlation analysis. Further gene enrichment analysis and region of interest (ROI) analysis confirmed the associations of the identified genes with brain ROIs. Therefore, our approach provides a powerful tool for finding

  12. Learning a Genetic Measure for Kinship Verification Using Facial Images

    Directory of Open Access Journals (Sweden)

    Lu Kou

    2015-01-01

    Full Text Available Motivated by the key observation that children generally resemble their parents more than other persons with respect to facial appearance, distance metric (similarity learning has been the dominant choice for state-of-the-art kinship verification via facial images in the wild. Most existing learning-based approaches to kinship verification, however, are focused on learning a genetic similarity measure in a batch learning manner, leading to less scalability for practical applications with ever-growing amount of data. To address this, we propose a new kinship verification approach by learning a sparse similarity measure in an online fashion. Experimental results on the kinship datasets show that our approach is highly competitive to the state-of-the-art alternatives in terms of verification accuracy, yet it is superior in terms of scalability for practical applications.

  13. Transfection of genetically encoded photoswitchable probes for STORM imaging.

    Science.gov (United States)

    Bates, Mark; Jones, Sara A; Zhuang, Xiaowei

    2013-06-01

    Conventional fluorescence microscopy is limited by its spatial resolution, leaving many biological structures too small to be studied in detail. Stochastic optical reconstruction microscopy (STORM) is a method for superresolution fluorescence imaging based on the high accuracy localization of individual fluorophores. It uses optically switchable fluorophores: molecules that can be switched between a nonfluorescent and a fluorescent state by exposure to light. This protocol describes the transfection of genetically encoded photoswitchable probes for STORM imaging. It includes a discussion of how to choose a photoswitchable fluorescent protein; standard molecular biology techniques should be used to generate a plasmid containing the sequence of the photoswitchable protein linked to the gene of interest. Once the plasmid has been generated and has been verified, it can be introduced into cells via any standard means of gene delivery, such as lipofection or electroporation. Optimal conditions will vary considerably for different cell lines and plasmids. Here, we present an example protocol for the transfection of BS-C-1 cells with an mEos2-vimentin plasmid using the lipid-based reagent FuGENE6.

  14. Cerebral perfusion imaging in HIV positive patients

    International Nuclear Information System (INIS)

    Kundley, Kshama; Chowdhury, D.; Lele, V.R.; Lele, R.D.

    1998-01-01

    Full text: Twelve human immunodeficiency virus (HIV) positive patients were studied by SPECT cerebral perfusion imaging 1 hour post injection of 15 mCi of 99m Tc-ECD under ideal conditions with a triple head gamma camera (Prism 3000 X P LEUHR), fanbeam collimators followed by Folstein Mini Mental Status Examination (FMMSE) and AIDS dementia complex (ADC) staging on the same day. All 12 patients were male, in the age range of 23-45 y (mean 31 y). The infected status was diagnosed by ELISA (10 patients) or Western blot (5 patients). The interval between diagnosis and imaging ranged from 1 month - 35 months (mean 15.3 months). Two patients were alcoholic and 2 were smokers. None of them had CNS disorder clinically. ADC staging and FMMSE could be performed in 4 patients. Two patients were normal (stage 0) and 2 were subclinical (stage 0.5) on ADC staging. FMMSE revealed normal or near normal status (mean score 35; maximum score 36). Cerebral perfusion images were interpreted simultaneously by 3 observers blind towards history and examination using semi-quantitative and quantitative methods by consensus. It revealed multiple areas of hypoperfusion, viz. temporal (11 patients (91 %), parietal 10 patients (83%), frontal 9 patients (75%, pre and post central gyrus 7 patients (58%), occipital 6 patients (50%) cingulate gyrus and cerebellum 5 patients (41%) and thalamic in 2 patients (16%). Hyper perfusion in caudate nuclei was noted in 10 patients (83%). The study reveals presence of multiple perfusion abnormalities on cerebral perfusion imaging in HIV positive patients who have normal/near normal mental status suggesting precedence of perfusion abnormality over clinically apparent mental deficit

  15. Infratentorial oligodendrogliomas: Imaging findings in six patients

    Energy Technology Data Exchange (ETDEWEB)

    Lee, In Ho; Kim, Sung Tae; Kim, Hyung-Jin; Kim, Keon Ha; Jeon, Pyoung; Byun, Hong Sik (Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan Univ. School of Medicine, Seoul (Korea)), e-mail: femidas@naver.com; Suh, Yeon-Lim (Dept. of Pathology, Samsung Medical Center, Sungkyunkwan Univ. School of Medicine, Seoul (Korea))

    2010-03-15

    Background: Oligodendrogliomas are primarily supratentorial tumors. However, infrequently, they can also arise from infratentorial structures. There are only limited numbers of radiological articles on the specific imaging findings of this entity. Purpose: To investigate the imaging findings of infratentorial oligodendrogliomas. Material and Methods: We retrospectively reviewed the magnetic resonance imaging (MRI) findings and clinical records of six patients with pathologically proven infratentorial oligodendrogliomas between December 1994 and April 2008. Tumor location, circumscription, signal intensity (SI), enhancement pattern, the presence of restricted diffusion, and the change of the relative cerebral blood volume (rCBV) on MRI were evaluated. Results: In total, six patients (three male, three female; mean age 65 years, range 51-75 years) were included. The pathology revealed anaplastic oligodendrogliomas in all six patients. The location was cerebellum in four patients, medulla in one patient, and fourth ventricle and tegmentum in one patient. Three of them were of the infiltrative type, and the other three of the mass-forming type. The solid component of the tumors showed high SI (n=6) on FLAIR and T2-weighted images, and low (n=5) or iso (n=1) SI on T1-weighted images. All infiltrative lesions showed multifocal patchy enhancement, and mass-forming lesions showed heterogeneous enhancement (n=2) and diffuse homogeneous enhancement (n=1). Three patients had restricted diffusion, and one had leptomeningeal seeding. There was markedly increased rCBV on perfusion-weighted image (PWI) in one patient. Calcification or hemorrhage was not found. Tumor progression after operation, radiation therapy, gamma-knife surgery, or chemotherapy developed in five patients. Conclusion: Although infratentorial oligodendrogliomas did not show characteristic imaging findings, there was a tendency toward multifocal heterogeneous enhancement and absent or mild mass effect of

  16. Genetic and Non-genetic Factors Associated With Constipation in Cancer Patients Receiving Opioids.

    Science.gov (United States)

    Laugsand, Eivor A; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

    2015-06-18

    To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation and 75 single-nucleotide polymorphisms (SNPs) within 15 candidate genes related to opioid- or constipation-signaling pathways (HTR3E, HTR4, HTR2A, TPH1, ADRA2A, CHRM3, TACR1, CCKAR, KIT, ARRB2, GHRL, ABCB1, COMT, OPRM1, and OPRD1). The non-genetic factors significantly associated with constipation were type of laxative, mobility and place of care among patients receiving laxatives (N=806), in addition to Karnofsky performance status and presence of metastases among patients not receiving laxatives (N=762) (Pconstipation. Five SNPs, rs1800532 in TPH1, rs1799971 in OPRM1, rs4437575 in ABCB1, rs10802789 in CHRM3, and rs2020917 in COMT were associated with constipation (Phospitalization, Karnofsky performance status, presence of metastases, and five SNPs within TPH1, OPRM1, ABCB1, CHRM3, and COMT may contribute to the variability in constipation among cancer patients treated with opioids. Knowledge of these factors may help to develop new therapies and to identify patients needing a more individualized approach to treatment.

  17. Markerless registration for image guided surgery. Preoperative image, intraoperative video image, and patient

    International Nuclear Information System (INIS)

    Kihara, Tomohiko; Tanaka, Yuko

    1998-01-01

    Real-time and volumetric acquisition of X-ray CT, MR, and SPECT is the latest trend of the medical imaging devices. A clinical challenge is to use these multi-modality volumetric information complementary on patient in the entire diagnostic and surgical processes. The intraoperative image and patient integration intents to establish a common reference frame by image in diagnostic and surgical processes. This provides a quantitative measure during surgery, for which we have been relied mostly on doctors' skills and experiences. The intraoperative image and patient integration involves various technologies, however, we think one of the most important elements is the development of markerless registration, which should be efficient and applicable to the preoperative multi-modality data sets, intraoperative image, and patient. We developed a registration system which integrates preoperative multi-modality images, intraoperative video image, and patient. It consists of a real-time registration of video camera for intraoperative use, a markerless surface sampling matching of patient and image, our previous works of markerless multi-modality image registration of X-ray CT, MR, and SPECT, and an image synthesis on video image. We think these techniques can be used in many applications which involve video camera like devices such as video camera, microscope, and image Intensifier. (author)

  18. Genetics and Management of the Patient with Orofacial Cleft

    Directory of Open Access Journals (Sweden)

    Luciano Abreu Brito

    2012-01-01

    Full Text Available Cleft lip or palate (CL/P is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.

  19. SU-E-J-98: Radiogenomics: Correspondence Between Imaging and Genetic Features Based On Clustering Analysis

    International Nuclear Information System (INIS)

    Harmon, S; Wendelberger, B; Jeraj, R

    2014-01-01

    Purpose: Radiogenomics aims to establish relationships between patient genotypes and imaging phenotypes. An open question remains on how best to integrate information from these distinct datasets. This work investigates if similarities in genetic features across patients correspond to similarities in PET-imaging features, assessed with various clustering algorithms. Methods: [ 18 F]FDG PET data was obtained for 26 NSCLC patients from a public database (TCIA). Tumors were contoured using an in-house segmentation algorithm combining gradient and region-growing techniques; resulting ROIs were used to extract 54 PET-based features. Corresponding genetic microarray data containing 48,778 elements were also obtained for each tumor. Given mismatch in feature sizes, two dimension reduction techniques were also applied to the genetic data: principle component analysis (PCA) and selective filtering of 25 NSCLC-associated genes-ofinterest (GOI). Gene datasets (full, PCA, and GOI) and PET feature datasets were independently clustered using K-means and hierarchical clustering using variable number of clusters (K). Jaccard Index (JI) was used to score similarity of cluster assignments across different datasets. Results: Patient clusters from imaging data showed poor similarity to clusters from gene datasets, regardless of clustering algorithms or number of clusters (JI mean = 0.3429±0.1623). Notably, we found clustering algorithms had different sensitivities to data reduction techniques. Using hierarchical clustering, the PCA dataset showed perfect cluster agreement to the full-gene set (JI =1) for all values of K, and the agreement between the GOI set and the full-gene set decreased as number of clusters increased (JI=0.9231 and 0.5769 for K=2 and 5, respectively). K-means clustering assignments were highly sensitive to data reduction and showed poor stability for different values of K (JI range : 0.2301–1). Conclusion: Using commonly-used clustering algorithms, we found

  20. SU-E-J-98: Radiogenomics: Correspondence Between Imaging and Genetic Features Based On Clustering Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Harmon, S; Wendelberger, B [University of Wisconsin-Madison, Madison, WI (United States); Jeraj, R [University of Wisconsin-Madison, Madison, WI (United States); University of Ljubljana (Slovenia)

    2014-06-01

    Purpose: Radiogenomics aims to establish relationships between patient genotypes and imaging phenotypes. An open question remains on how best to integrate information from these distinct datasets. This work investigates if similarities in genetic features across patients correspond to similarities in PET-imaging features, assessed with various clustering algorithms. Methods: [{sup 18}F]FDG PET data was obtained for 26 NSCLC patients from a public database (TCIA). Tumors were contoured using an in-house segmentation algorithm combining gradient and region-growing techniques; resulting ROIs were used to extract 54 PET-based features. Corresponding genetic microarray data containing 48,778 elements were also obtained for each tumor. Given mismatch in feature sizes, two dimension reduction techniques were also applied to the genetic data: principle component analysis (PCA) and selective filtering of 25 NSCLC-associated genes-ofinterest (GOI). Gene datasets (full, PCA, and GOI) and PET feature datasets were independently clustered using K-means and hierarchical clustering using variable number of clusters (K). Jaccard Index (JI) was used to score similarity of cluster assignments across different datasets. Results: Patient clusters from imaging data showed poor similarity to clusters from gene datasets, regardless of clustering algorithms or number of clusters (JI{sub mean}= 0.3429±0.1623). Notably, we found clustering algorithms had different sensitivities to data reduction techniques. Using hierarchical clustering, the PCA dataset showed perfect cluster agreement to the full-gene set (JI =1) for all values of K, and the agreement between the GOI set and the full-gene set decreased as number of clusters increased (JI=0.9231 and 0.5769 for K=2 and 5, respectively). K-means clustering assignments were highly sensitive to data reduction and showed poor stability for different values of K (JI{sub range}: 0.2301–1). Conclusion: Using commonly-used clustering algorithms

  1. Sacrococcygeal chordoma: MR imaging in 30 patients

    Energy Technology Data Exchange (ETDEWEB)

    Sung, Mi Sook; Chung, Myung Hee [Catholic University of Korea, Holy Family Hospital, Department of Radiology, Pucheon (Korea); Lee, Gyung Kyu; Kang, Heung Sik [Seoul National University Hospital, Department of Radiology, Seoul (Korea); Kwon, Soon Tae [Chungnam University Hospital, Department of Radiology, Taejun (Korea); Park, Jin Gyoon [Chunnam University Hospital, Department of Radiology, Kwangju (Korea); Suh, Jin Suk [Yonsei University, Severans Hospital, Department of Radiology, Seoul (Korea); Cho, Gil Ho [Yeungnam University Hospital, Department of Radiology, Taegu (Korea); Lee, Sung Moon [Kaemyung University Hospital, Department of Radiology, Taeku (Korea); Resnick, Donald [VA Medical Center, Department of Radiology, San Diego, CA (United States)

    2005-02-01

    To evaluate MR imaging of sacrococcygeal chordoma. Thirty patients (age range 22-80 years) underwent MR imaging for the diagnosis and preoperative evaluation of sacrococcygeal chordomas. Eight patients had follow-up MR examination after treatment. The MR images were performed with T1- and T2-weighted imaging, and gadolinium (Gd)-enhanced imaging. The MR images were analyzed for the signal intensity, enhancing pattern, tumor size, growth pattern of the soft tissue component, and tumor extension. T1-weighted images showed low signal masses with foci of high signal intensity in 73% of cases. Tumors enhanced in a variety of patterns after the administration of Gd. Soft tissue masses extending anteriorly were seen in all cases with posterior extension in 77% of cases. The posterior masses involved the surrounding muscles and extended toward the greater sciatic notch, appearing with pseudopodia (87%). Sacroiliac joints were involved in 23% of cases. Four lesions showed intraspinal extension and involvement of the posterior spinal muscles above the level of bony involvement. In 6 patients recurrent tumors were found at or around the surgical margin of the tumor 6 months to 5 years after resection of the sacral tumor. In two of the patients, nodular metastases to the pelvic bones and femur were found 1-4 years after initial examination. In conclusion, MR imaging is useful in the diagnosis and preoperative assessment of sacrococcygeal chordoma. Characteristic findings included sacral mass with heterogeneously high signal intensity with crisscrossing septa on long-repetition-time imaging, well-encapsulated pseudopodia-like or lobulated appearance, and gluteal muscle infiltration. Follow-up MR imaging is helpful to assess for recurrent or metastatic lesions of chordomas. (orig.)

  2. Diagnostic imaging in intensive care patients

    International Nuclear Information System (INIS)

    Afione, Cristina; Binda, Maria del C.

    2004-01-01

    Purpose: To determine the role of imaging diagnostic methods in the location of infection causes of unknown origin in the critical care patient. Material and methods: A comprehensive medical literature search has been done. Recommendations for the diagnostic imaging of septic focus in intensive care patients are presented for each case, with analysis based on evidence. The degree of evidence utilized has been that of Oxford Center for Evidence-based Medicine. Results: Nosocomial infection is the most frequent complication in the intensive care unit (25 to 33%) with high sepsis incidence rate. In order to locate the infection focus, imaging methods play an important role, as a diagnostic tool and to guide therapeutic procedures. The most frequent causes of infection are: ventilation associated pneumonia, sinusitis, intra-abdominal infections and an acute acalculous cholecystitis. This paper analyses the diagnostic imaging of hospital infection, with the evaluation of choice methods for each one and proposes an algorithm to assess the septic patient. Conclusion: There are evidences, with different degrees of recommendation, for the use of diagnostic imaging methods for infectious focuses in critical care patients. The studies have been selected based on their diagnostic precision, on the capacity of the medical team and on the availability of resources, considering the risk-benefit balance for the best safety of the patient. (author)

  3. Imaging-Genetics in Dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

    Science.gov (United States)

    Eicher, John D.; Gruen, Jeffrey R.

    2013-01-01

    Dyslexia is a common pediatric disorder that affects 5-17% of schoolchildren in the United States. It is marked by unexpected difficulties in fluent reading despite adequate intelligence, opportunity, and instruction. Classically, neuropsychologists have studied dyslexia using a variety of neurocognitive batteries to gain insight into the specific deficits and impairments in affected children. Since dyslexia is a complex genetic trait with high heritability, analyses conditioned on performance on these neurocognitive batteries have been used to try to identify associated genes. This has led to some successes in identifying contributing genes, although much of the heritability remains unexplained. Additionally, the lack of relevant human brain tissue for analysis and the challenges of modeling a uniquely human trait in animals are barriers to advancing our knowledge of the underlying pathophysiology. In vivo imaging technologies, however, present new opportunities to examine dyslexia and reading skills in a clearly relevant context in human subjects. Recent investigations have started to integrate these imaging data with genetic data in attempts to gain a more complete and complex understanding of reading processes. In addition to bridging the gap from genetic risk variant to a discernible neuroimaging phenotype and ultimately to the clinical impairments in reading performance, the use of neuroimaging phenotypes will reveal novel risk genes and variants. In this article, we briefly discuss the genetic and imaging investigations and take an in-depth look at the recent imaging-genetics investigations of dyslexia. PMID:23916419

  4. Patient doses in digital cardiac imaging

    International Nuclear Information System (INIS)

    Huda, W.; Ogden, K.M.; Roskopf, M.L.; Phadke, K.

    2001-01-01

    In this pilot study, we obtained estimates of entrance skin doses and the corresponding effective doses to patients undergoing digital cardiac imaging procedures on a GE Advantx LC/LP Plus system. Data were obtained for six patients undergoing diagnostic examinations and six patients who had interventional procedures. For each patient examination, radiographic techniques for fluoroscopic and digital cine imaging were recorded, together with the irradiation geometry. The projection with the highest exposure resulted in an average skin dose of 0.64 ± 0.41 Gy (maximum of 1.6 Gy). The average patient skin doses taking into account overlapping projections was 1.1 ± 0.8 Gy (maximum of 3.0 Gy). The exposure area product (EAP) incident on the patient was converted into the energy imparted to the patient and the corresponding effective dose. The average patient effective dose was 28 ± 14 mSv (maximum 62 mSv), with the resultant average fatal cancer risk estimated to be of the order of 8x10 -3 . Average doses for interventional procedures in cardiac imaging are higher than those associated with diagnostic examinations by approximately 50%. (author)

  5. Clinical and genetic assessment of pediatric patients with Gaucher's ...

    African Journals Online (AJOL)

    Background: Gaucher's disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid b-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD patients: N370S, ...

  6. Clinical and genetic data of Huntington disease in Moroccan patients

    African Journals Online (AJOL)

    Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

  7. Huntington\\'s disease: Genetic heterogeneity in black African patients

    African Journals Online (AJOL)

    Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

  8. Genetic and Non-genetic Factors Associated With Constipation in Cancer Patients Receiving Opioids

    Science.gov (United States)

    Laugsand, Eivor A; Skorpen, Frank; Kaasa, Stein; Sabatowski, Rainer; Strasser, Florian; Fayers, Peter; Klepstad, Pål

    2015-01-01

    Objectives: To examine whether the inter-individual variation in constipation among patients receiving opioids for cancer pain is associated with genetic or non-genetic factors. Methods: Cancer patients receiving opioids were included from 17 centers in 11 European countries. Intensity of constipation was reported by 1,568 patients on a four-point categorical scale. Non-genetic factors were included as covariates in stratified regression analyses on the association between constipation and 75 single-nucleotide polymorphisms (SNPs) within 15 candidate genes related to opioid- or constipation-signaling pathways (HTR3E, HTR4, HTR2A, TPH1, ADRA2A, CHRM3, TACR1, CCKAR, KIT, ARRB2, GHRL, ABCB1, COMT, OPRM1, and OPRD1). Results: The non-genetic factors significantly associated with constipation were type of laxative, mobility and place of care among patients receiving laxatives (N=806), in addition to Karnofsky performance status and presence of metastases among patients not receiving laxatives (N=762) (P<0.01). Age, gender, body mass index, cancer diagnosis, time on opioids, opioid dose, and type of opioid did not contribute to the inter-individual differences in constipation. Five SNPs, rs1800532 in TPH1, rs1799971 in OPRM1, rs4437575 in ABCB1, rs10802789 in CHRM3, and rs2020917 in COMT were associated with constipation (P<0.01). Only rs2020917 in COMT passed the Benjamini–Hochberg criterion for a 10% false discovery rate. Conclusions: Type of laxative, mobility, hospitalization, Karnofsky performance status, presence of metastases, and five SNPs within TPH1, OPRM1, ABCB1, CHRM3, and COMT may contribute to the variability in constipation among cancer patients treated with opioids. Knowledge of these factors may help to develop new therapies and to identify patients needing a more individualized approach to treatment. PMID:26087058

  9. Patient Dose From Megavoltage Computed Tomography Imaging

    International Nuclear Information System (INIS)

    Shah, Amish P.; Langen, Katja M.; Ruchala, Kenneth J.; Cox, Andrea; Kupelian, Patrick A.; Meeks, Sanford L.

    2008-01-01

    Purpose: Megavoltage computed tomography (MVCT) can be used daily for imaging with a helical tomotherapy unit for patient alignment before treatment delivery. The purpose of this investigation was to show that the MVCT dose can be computed in phantoms, and further, that the dose can be reported for actual patients from MVCT on a helical tomotherapy unit. Methods and Materials: An MVCT beam model was commissioned and verified through a series of absorbed dose measurements in phantoms. This model was then used to retrospectively calculate the imaging doses to the patients. The MVCT dose was computed for five clinical cases: prostate, breast, head/neck, lung, and craniospinal axis. Results: Validation measurements in phantoms verified that the computed dose can be reported to within 5% of the measured dose delivered at the helical tomotherapy unit. The imaging dose scaled inversely with changes to the CT pitch. Relative to a normal pitch of 2.0, the organ dose can be scaled by 0.67 and 2.0 for scans done with a pitch of 3.0 and 1.0, respectively. Typical doses were in the range of 1.0-2.0 cGy, if imaged with a normal pitch. The maximal organ dose calculated was 3.6 cGy in the neck region of the craniospinal patient, if imaged with a pitch of 1.0. Conclusion: Calculation of the MVCT dose has shown that the typical imaging dose is approximately 1.5 cGy per image. The uniform MVCT dose delivered using helical tomotherapy is greatest when the anatomic thickness is the smallest and the pitch is set to the lowest value

  10. Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential.

    Science.gov (United States)

    Bogdan, Ryan; Salmeron, Betty Jo; Carey, Caitlin E; Agrawal, Arpana; Calhoun, Vince D; Garavan, Hugh; Hariri, Ahmad R; Heinz, Andreas; Hill, Matthew N; Holmes, Andrew; Kalin, Ned H; Goldman, David

    2017-08-01

    Imaging genetics and genomics research has begun to provide insight into the molecular and genetic architecture of neural phenotypes and the neural mechanisms through which genetic risk for psychopathology may emerge. As it approaches its third decade, imaging genetics is confronted by many challenges, including the proliferation of studies using small sample sizes and diverse designs, limited replication, problems with harmonization of neural phenotypes for meta-analysis, unclear mechanisms, and evidence that effect sizes may be more modest than originally posited, with increasing evidence of polygenicity. These concerns have encouraged the field to grow in many new directions, including the development of consortia and large-scale data collection projects and the use of novel methods (e.g., polygenic approaches, machine learning) that enhance the quality of imaging genetic studies but also introduce new challenges. We critically review progress in imaging genetics and offer suggestions and highlight potential pitfalls of novel approaches. Ultimately, the strength of imaging genetics and genomics lies in their translational and integrative potential with other research approaches (e.g., nonhuman animal models, psychiatric genetics, pharmacologic challenge) to elucidate brain-based pathways that give rise to the vast individual differences in behavior as well as risk for psychopathology. Copyright © 2017 Society of Biological Psychiatry. All rights reserved.

  11. Professional challenges in cancer genetic testing: who is the patient?

    Science.gov (United States)

    Chan-Smutko, Gayun; Patel, Devanshi; Shannon, Kristen M; Ryan, Paula D

    2008-03-01

    In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.

  12. PET imaging in patients with Modic changes

    International Nuclear Information System (INIS)

    Albert, H.B.; Manniche, C.; Petersen, H.; Hoeilund-Carlsen, P.F.

    2009-01-01

    The aim of this study was via PET imaging to reveal if any highly metabolic processes were occurring in Modic changes type 1 and/or in the adjacent discs. Modic changes (MC) are signal changes in the vertebral endplate and body visualised by magnetic resonance imaging (MRI). MC are strongly associated with low back pain (LBP). MC type 1 appear to be inflammation on MRI, and histological and biochemical findings make it highly likely that an inflammation is present. Though MC is painful no known treatment is available, and it is unknown which entities affect the progress or regress of MC. The changes observed on MRI are slow and take months to develop, but faster changes in the metabolism might provide a platform for monitoring patients. Patients from The Back Centre Funen, with low back pain in the area of L1 to S1, MC type 1 in L1 to L5, and a previous herniated lumbar disc. All patients had a PET scan using FDG ( 18 F-fluorodeoxyglucose) as tracer. Included in the study were 11 patients, 4 women and 7 men, mean age 48.1 year (range 20-65). All MC were situated in the vertebrae both above and below the previously herniated disc/discs. Ten patients had MC at 1 level, and 1 had MC at 2 levels. The affected levels were 1 at L2/L3, 6 at L4 /L5, and 5 at L5/S1. All had a previous disc herniation and MC larger than 4 mm in diameter. Technically satisfactory PET scans were obtained. However, PET imaging showed no increases in metabolism in any vertebra or disc of any patient. Modic type 1 changes do not reveal themselves by showing increased metabolism with ordinary FDG PET imaging. PET tracers illuminating inflammation are being developed and hopefully may become more successful. (orig.)

  13. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

    DEFF Research Database (Denmark)

    Tasca, Giorgio; D'Amico, Adele; Monforte, Mauro

    2015-01-01

    Tubular aggregate myopathy is a genetically heterogeneous disease characterized by tubular aggregates as the hallmark on muscle biopsy. Mutations in STIM1 have recently been identified as one genetic cause in a number of tubular aggregate myopathy cases. To characterize the pattern of muscle...... involvement in this disease, upper and lower girdles and lower limbs were imaged in five patients with mutations in STIM1, and the scans were compared with two patients with tubular aggregate myopathy not caused by mutations in STIM1. A common pattern of involvement was found in STIM1-mutated patients...... of thigh and posterior leg with sparing of gracilis, tibialis anterior and, to a lesser extent, short head of biceps femoris. Mutations in STIM1 are associated with a homogeneous involvement on imaging despite variable clinical features. Muscle imaging can be useful in identifying STIM1-mutated patients...

  14. Delineating the genetic heterogeneity of OCA in Hungarian patients

    OpenAIRE

    F?bos, Be?ta; Farkas, Katalin; T?th, Lola; Sul?k, Adrienn; Tripolszki, Korn?lia; Tihanyi, Mariann; N?meth, R?ka; Vas, Krisztina; Csoma, Zsanett; Kem?ny, Lajos; Sz?ll, M?rta; Nagy, Nikoletta

    2017-01-01

    Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1?7). Methods The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients ...

  15. Identification of Germline Genetic Mutations in Pancreatic Cancer Patients

    Science.gov (United States)

    Salo-Mullen, Erin E.; O’Reilly, Eileen; Kelsen, David; Ashraf, Asad M.; Lowery, Maeve; Yu, Kenneth; Reidy, Diane; Epstein, Andrew S.; Lincoln, Anne; Saldia, Amethyst; Jacobs, Lauren M.; Rau-Murthy, Rohini; Zhang, Liying; Kurtz, Robert; Saltz, Leonard; Offit, Kenneth; Robson, Mark; Stadler, Zsofia K.

    2016-01-01

    Background Pancreatic adenocarcinoma (PAC) is part of several cancer predisposition syndromes; however, indications for genetic counseling/testing are not well-defined. We sought to determine mutation prevalence and characteristics that predict for inherited predisposition to PAC. Methods We identified 175 consecutive PAC patients who underwent clinical genetics assessment at Memorial Sloan Kettering between 2011–2014. Clinical data, family history, and germline results were evaluated. Results Among 159 PAC patients who pursued genetic testing, 24 pathogenic mutations were identified (15.1%; 95%CI, 9.5%–20.7%), including BRCA2(n=13), BRCA1(n=4), p16(n=2), PALB2(n=1), and Lynch syndrome(n=4). BRCA1/BRCA2 prevalence was 13.7% in Ashkenazi Jewish(AJ) (n=95) and 7.1% in non-AJ(n=56) patients. In AJ patients with strong, weak, or absent family history of BRCA-associated cancers, mutation prevalence was 16.7%, 15.8%, and 7.4%, respectively. Mean age at diagnosis in all mutation carriers was 58.5y(range 45–75y) compared to 64y(range 27–87y) in non-mutation carriers(P=0.02). Although BRCA2 was the most common mutation identified, no patients with early-onset PAC(≤50y) harbored a BRCA2 mutation and the mean age at diagnosis in BRCA2 carriers was equivalent to non-mutation carriers(P=0.34). Mutation prevalence in early-onset patients(n=21) was 28.6%, including BRCA1(n=2), p16(n=2), MSH2(n=1) and MLH1(n=1). Conclusion Mutations in BRCA2 account for over 50% of PAC patients with an identified susceptibility syndrome. AJ patients had high BRCA1/BRCA2 prevalence regardless of personal/family history, suggesting that ancestry alone indicates a need for genetic evaluation. With the exception of BRCA2-associated PAC, inherited predisposition to PAC is associated with earlier age at PAC diagnosis suggesting that this subset of patients may also represent a population warranting further evaluation. PMID:26440929

  16. A novel structure-aware sparse learning algorithm for brain imaging genetics.

    Science.gov (United States)

    Du, Lei; Jingwen, Yan; Kim, Sungeun; Risacher, Shannon L; Huang, Heng; Inlow, Mark; Moore, Jason H; Saykin, Andrew J; Shen, Li

    2014-01-01

    Brain imaging genetics is an emergent research field where the association between genetic variations such as single nucleotide polymorphisms (SNPs) and neuroimaging quantitative traits (QTs) is evaluated. Sparse canonical correlation analysis (SCCA) is a bi-multivariate analysis method that has the potential to reveal complex multi-SNP-multi-QT associations. Most existing SCCA algorithms are designed using the soft threshold strategy, which assumes that the features in the data are independent from each other. This independence assumption usually does not hold in imaging genetic data, and thus inevitably limits the capability of yielding optimal solutions. We propose a novel structure-aware SCCA (denoted as S2CCA) algorithm to not only eliminate the independence assumption for the input data, but also incorporate group-like structure in the model. Empirical comparison with a widely used SCCA implementation, on both simulated and real imaging genetic data, demonstrated that S2CCA could yield improved prediction performance and biologically meaningful findings.

  17. Phase Image Analysis in Conduction Disturbance Patients

    International Nuclear Information System (INIS)

    Kwark, Byeng Su; Choi, Si Wan; Kang, Seung Sik; Park, Ki Nam; Lee, Kang Wook; Jeon, Eun Seok; Park, Chong Hun

    1994-01-01

    It is known that the normal His-Purkinje system provides for nearly synchronous activation of right (RV) and left (LV) ventricles. When His-Purkinje conduction is abnormal, the resulting sequence of ventricular contraction must be correspondingly abnormal. These abnormal mechanical consequences were difficult to demonstrate because of the complexity and the rapidity of its events. To determine the relationship of the phase changes and the abnormalities of ventricular conduction, we performed phase image analysis of Tc-RBC gated blood pool scintigrams in patients with intraventricular conduction disturbances (24 complete left bundle branch block (C-LBBB), 15 complete right bundle branch block (C-RBBB), 13 Wolff-Parkinson-White syndrome (WPW), 10 controls). The results were as follows; 1) The ejection fraction (EF), peak ejection rate (PER), and peak filling rate (PFR) of LV in gated blood pool scintigraphy (GBPS) were significantly lower in patients with C-LBBB than in controls (44.4 ± 13.9% vs 69.9 ± 4.2%, 2.48 ± 0.98 vs 3.51 ± 0,62, 1.76 ± 0.71 vs 3.38 ± 0.92, respectively, p<0.05). 2) In the phase angle analysis of LV, Standard deviation (SD), width of half maximum of phase angle (FWHM), and range of phase angle were significantly increased in patients with C-LBBB than in controls (20.6 + 18.1 vs S.6 + I.8, 22. 5 + 9.2 vs 16.0 + 3.9, 95.7 + 31.7 vs 51.3 + 5.4, respectively, p<0.05). 3) There was no significant difference in EF, PER, PFR between patients with the WolffParkinson-White syndrome and controls. 4) Standard deviation and range of phase angle were significantly higher in patients with WPW syndrome than in controls (10.6 + 2.6 vs 8.6 + 1.8, p<0.05, 69.8 + 11.7 vs 51.3 + 5 4, p<0.001, respectively), however, there was no difference between the two groups in full width of half maximum. 5) Phase image analysis revealed relatively uniform phase across the both ventriles in patients with normal conduction, but markedly delayed phase in the left ventricle

  18. Phase Image Analysis in Conduction Disturbance Patients

    Energy Technology Data Exchange (ETDEWEB)

    Kwark, Byeng Su; Choi, Si Wan; Kang, Seung Sik; Park, Ki Nam; Lee, Kang Wook; Jeon, Eun Seok; Park, Chong Hun [Chung Nam University Hospital, Daejeon (Korea, Republic of)

    1994-03-15

    It is known that the normal His-Purkinje system provides for nearly synchronous activation of right (RV) and left (LV) ventricles. When His-Purkinje conduction is abnormal, the resulting sequence of ventricular contraction must be correspondingly abnormal. These abnormal mechanical consequences were difficult to demonstrate because of the complexity and the rapidity of its events. To determine the relationship of the phase changes and the abnormalities of ventricular conduction, we performed phase image analysis of Tc-RBC gated blood pool scintigrams in patients with intraventricular conduction disturbances (24 complete left bundle branch block (C-LBBB), 15 complete right bundle branch block (C-RBBB), 13 Wolff-Parkinson-White syndrome (WPW), 10 controls). The results were as follows; 1) The ejection fraction (EF), peak ejection rate (PER), and peak filling rate (PFR) of LV in gated blood pool scintigraphy (GBPS) were significantly lower in patients with C-LBBB than in controls (44.4 +- 13.9% vs 69.9 +- 4.2%, 2.48 +- 0.98 vs 3.51 +- 0,62, 1.76 +- 0.71 vs 3.38 +- 0.92, respectively, p<0.05). 2) In the phase angle analysis of LV, Standard deviation (SD), width of half maximum of phase angle (FWHM), and range of phase angle were significantly increased in patients with C-LBBB than in controls (20.6 + 18.1 vs S.6 + I.8, 22. 5 + 9.2 vs 16.0 + 3.9, 95.7 + 31.7 vs 51.3 + 5.4, respectively, p<0.05). 3) There was no significant difference in EF, PER, PFR between patients with the WolffParkinson-White syndrome and controls. 4) Standard deviation and range of phase angle were significantly higher in patients with WPW syndrome than in controls (10.6 + 2.6 vs 8.6 + 1.8, p<0.05, 69.8 + 11.7 vs 51.3 + 5 4, p<0.001, respectively), however, there was no difference between the two groups in full width of half maximum. 5) Phase image analysis revealed relatively uniform phase across the both ventriles in patients with normal conduction, but markedly delayed phase in the left ventricle

  19. Hybridizing Differential Evolution with a Genetic Algorithm for Color Image Segmentation

    Directory of Open Access Journals (Sweden)

    R. V. V. Krishna

    2016-10-01

    Full Text Available This paper proposes a hybrid of differential evolution and genetic algorithms to solve the color image segmentation problem. Clustering based color image segmentation algorithms segment an image by clustering the features of color and texture, thereby obtaining accurate prototype cluster centers. In the proposed algorithm, the color features are obtained using the homogeneity model. A new texture feature named Power Law Descriptor (PLD which is a modification of Weber Local Descriptor (WLD is proposed and further used as a texture feature for clustering. Genetic algorithms are competent in handling binary variables, while differential evolution on the other hand is more efficient in handling real parameters. The obtained texture feature is binary in nature and the color feature is a real value, which suits very well the hybrid cluster center optimization problem in image segmentation. Thus in the proposed algorithm, the optimum texture feature centers are evolved using genetic algorithms, whereas the optimum color feature centers are evolved using differential evolution.

  20. ITERATION FREE FRACTAL COMPRESSION USING GENETIC ALGORITHM FOR STILL COLOUR IMAGES

    Directory of Open Access Journals (Sweden)

    A.R. Nadira Banu Kamal

    2014-02-01

    Full Text Available The storage requirements for images can be excessive, if true color and a high-perceived image quality are desired. An RGB image may be viewed as a stack of three gray-scale images that when fed into the red, green and blue inputs of a color monitor, produce a color image on the screen. The abnormal size of many images leads to long, costly, transmission times. Hence, an iteration free fractal algorithm is proposed in this research paper to design an efficient search of the domain pools for colour image compression using Genetic Algorithm (GA. The proposed methodology reduces the coding process time and intensive computation tasks. Parameters such as image quality, compression ratio and coding time are analyzed. It is observed that the proposed method achieves excellent performance in image quality with reduction in storage space.

  1. The drug-naïve OCD patients imaging genetics, cognitive and treatment response study: methods and sample description Estudo de genética, imagem, cognição e resposta a tratamento em pacientes com TOC virgens de tratamento: métodos e descrição da amostra

    Directory of Open Access Journals (Sweden)

    Marcelo Queiroz Hoexter

    2009-12-01

    Full Text Available OBJECTIVE: To describe a protocol that was based on an integrative neurobiological model of scientific investigation to better understand the pathophysiology of obsessive-compulsive disorder and to present the clinical and demographic characteristics of the sample. METHOD: A standardized research protocol that combines different methods of investigation (genetics, neuropsychology, morphometric magnetic resonance imaging and molecular neuroimaging of the dopamine transporter obtained before and after treatment of drug-naïve adult obsessive-compulsive disorder patients submitted to a sequentially allocated 12-week clinical trial with a selective serotonin reuptake inhibitor (fluoxetine and group cognitive-behavioral therapy. RESULTS: Fifty-two treatment-naïve obsessive-compulsive disorder patients entered the clinical trial (27 received fluoxetine and 25 received group cognitive-behavioral therapy. At baseline, 47 blood samples for genetic studies, 50 neuropsychological evaluations, 50 morphometrical magnetic resonance images and 48 TRODAT-1 single-photon emission computed tomography (SPECT exams were obtained. After 12 weeks, 38 patients completed the protocol (fluoxetine = 20 and GCBT = 18. Thirty-eight neuropsychological evaluations, 31 morphometrical magnetic resonance images and 34 TRODAT-1 SPECT exams were obtained post-treatment. Forty-one healthy controls matched for age, gender, socioeconomic status, level of education and laterality were submitted to the same research procedures at baseline. CONCLUSION: The comprehensive treatment response protocol applied in this project allowing integration on genetic, neuropsychological, morphometrical and molecular imaging of the dopamine transporter data in drug-naïve patients has the potential to generate important original information on the neurobiology of obsessive-compulsive disorder, and at the same time be clinically meaningful.OBJETIVO: Descrever um protocolo integrativo de investiga

  2. Identifying Associations Between Brain Imaging Phenotypes and Genetic Factors via A Novel Structured SCCA Approach.

    Science.gov (United States)

    Du, Lei; Zhang, Tuo; Liu, Kefei; Yan, Jingwen; Yao, Xiaohui; Risacher, Shannon L; Saykin, Andrew J; Han, Junwei; Guo, Lei; Shen, Li

    2017-06-01

    Brain imaging genetics attracts more and more attention since it can reveal associations between genetic factors and the structures or functions of human brain. Sparse canonical correlation analysis (SCCA) is a powerful bi-multivariate association identification technique in imaging genetics. There have been many SCCA methods which could capture different types of structured imaging genetic relationships. These methods either use the group lasso to recover the group structure, or employ the graph/network guided fused lasso to find out the network structure. However, the group lasso methods have limitation in generalization because of the incomplete or unavailable prior knowledge in real world. The graph/network guided methods are sensitive to the sign of the sample correlation which may be incorrectly estimated. We introduce a new SCCA model using a novel graph guided pairwise group lasso penalty, and propose an efficient optimization algorithm. The proposed method has a strong upper bound for the grouping effect for both positively and negatively correlated variables. We show that our method performs better than or equally to two state-of-the-art SCCA methods on both synthetic and real neuroimaging genetics data. In particular, our method identifies stronger canonical correlations and captures better canonical loading profiles, showing its promise for revealing biologically meaningful imaging genetic associations.

  3. A patient centred approach to care planning for patients with chronic genetic diseases

    Directory of Open Access Journals (Sweden)

    Alastair Kent

    2013-03-01

    Full Text Available This essay proposes seven pre-requisites for the creation of effective programmes of care and support for patients living with the consequences of chronic genetic diseases. It then goes on to discuss the role of patient organisations and other stakeholders in bringing about the development and implementation of these.

  4. Genetic and infectious profiles of Japanese multiple sclerosis patients.

    Directory of Open Access Journals (Sweden)

    Satoshi Yoshimura

    Full Text Available BACKGROUND: Nationwide surveys conducted in Japan over the past thirty years have revealed a four-fold increase in the estimated number of multiple sclerosis (MS patients, a decrease in the age at onset, and successive increases in patients with conventional MS, which shows an involvement of multiple sites in the central nervous system, including the cerebrum and cerebellum. We aimed to clarify whether genetic and infectious backgrounds correlate to distinct disease phenotypes of MS in Japanese patients. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed HLA-DRB1 and -DPB1 alleles, and IgG antibodies specific for Helicobacter pylori, Chlamydia pneumoniae, varicella zoster virus, and Epstein-Barr virus nuclear antigen (EBNA in 145 MS patients and 367 healthy controls (HCs. Frequencies of DRB1*0405 and DPB1*0301 were significantly higher, and DRB1*0901 and DPB1*0401 significantly lower, in MS patients as compared with HCs. MS patients with DRB1*0405 had a significantly earlier age of onset and lower Progression Index than patients without this allele. The proportion and absolute number of patients with DRB1*0405 successively increased with advancing year of birth. In MS patients without DRB1*0405, the frequency of the DRB1*1501 allele was significantly higher, while the DRB1*0901 allele was significantly lower, compared with HCs. Furthermore, DRB1*0405-negative MS patients were significantly more likely to be positive for EBNA antibodies compared with HCs. CONCLUSIONS: Our study suggests that MS patients harboring DRB1*0405, a genetic risk factor for MS in the Japanese population, have a younger age at onset and a relatively benign disease course, while DRB1*0405-negative MS patients have features similar to Western-type MS in terms of association with Epstein-Barr virus infection and DRB1*1501. The recent increase of MS in young Japanese people may be caused, in part, by an increase in DRB1*0405-positive MS patients.

  5. Individual patient dosimetry using quantitative SPECT imaging

    International Nuclear Information System (INIS)

    Gonzalez, J.; Oliva, J.; Baum, R.; Fisher, S.

    2002-01-01

    An approach is described to provide individual patient dosimetry for routine clinical use. Accurate quantitative SPECT imaging was achieved using appropriate methods. The volume of interest (VOI) was defined semi-automatically using a fixed threshold value obtained from phantom studies. The calibration factor to convert the voxel counts from SPECT images into activity values was determine from calibrated point source using the same threshold value as in phantom studies. From selected radionuclide the dose within and outside a sphere of voxel dimension at different distances was computed through dose point-kernels to obtain a discrete absorbed dose kernel representation around the volume source with uniform activity distribution. The spatial activity distribution from SPECT imaging was convolved with this kernel representation using the discrete Fourier transform method to yield three-dimensional absorbed dose rate distribution. The accuracy of dose rates calculation was validated by software phantoms. The absorbed dose was determined by integration of the dose rate distribution for each volume of interest (VOI). Parameters for treatment optimization such as dose rate volume histograms and dose rate statistic are provided. A patient example was used to illustrate our dosimetric calculations

  6. Cytokine Genetic Variations and Fatigue Among Patients With Breast Cancer

    Science.gov (United States)

    Bower, Julienne E.; Ganz, Patricia A.; Irwin, Michael R.; Castellon, Steven; Arevalo, Jesusa; Cole, Steven W.

    2013-01-01

    Purpose Fatigue is a common adverse effect of cancer treatment and may persist for years after treatment completion. However, risk factors for post-treatment fatigue have not been determined. On the basis of studies suggesting an inflammatory basis for fatigue, this study tested the hypothesis that expression-regulating polymorphisms in proinflammatory cytokine genes would predict post-treatment fatigue in breast cancer survivors. Patients and Methods Women diagnosed with early-stage breast cancer (n = 171) completed questionnaires to assess fatigue and other behavioral symptoms (ie, depressive symptoms, memory complaints, sleep disturbance) and provided blood for genotyping within 3 months after primary treatment. Genomic DNA was extracted from peripheral-blood leukocytes and assayed for single nucleotide polymorphisms (SNPs) in the promoter regions of three cytokine genes: ILB −511 C>T (rs16944), IL6 −174 G>C (rs1800795), and TNF −308 G>A (rs1800629). An additive genetic risk score was computed by summing the number of high-expression alleles (zero, one, or two) across all three polymorphisms. Results The genetic risk index was significantly associated with fatigue; as the number of high-expression alleles increased, so did self-reported fatigue severity (P = .002). Analyses of individual SNPs showed that TNF −308 and IL6 −174 were independently associated with fatigue (P = .032). The genetic risk index was also associated with depressive symptoms (P = .007) and memory complaints (P = .016). Conclusion These findings further implicate inflammatory processes as contributors to cancer-related fatigue and suggest a new strategy for identifying and treating patients at risk for this symptom based on genetic variants in proinflammatory cytokine genes. PMID:23530106

  7. Imaging in Patients with Merkel Cell Carcinoma

    International Nuclear Information System (INIS)

    Enzenhofer, E.; Ubl, P.; Czerny, C.; Erovic, B. M.

    2013-01-01

    Merkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine tumor of the skin with a mortality rate of approximately 25% (Peloschek et al., 2010). Accurate assessment of nodal involvement in patients with MCC predicts significantly overall outcome (Smith et al., 2012 and Ortin-Perez et al., 2007). Due to the rarity of this highly aggressive disease, only a few imaging reports on MCC were published, and subsequently still to date no accepted imaging algorithm for MCC is available. For primary staging of MCC, general recommendations have included ultrasonography, chest X-ray CT, and MRI, but recent articles show that the use of sentinel node and FDG-PET/PET-CT is gaining more and more importance

  8. Scheduling Diet for Diabetes Mellitus Patients using Genetic Algorithm

    Science.gov (United States)

    Syahputra, M. F.; Felicia, V.; Rahmat, R. F.; Budiarto, R.

    2017-01-01

    Diabetes Melitus (DM) is one of metabolic diseases which affects on productivity and lowers the human resources quality. This disease can be controlled by maintaining and regulating balanced and healthy lifestyle especially for daily diet. However, nowadays, there is no system able to help DM patient to get any information of proper diet. Therefore, an approach is required to provide scheduling diet every day in a week with appropriate nutrition for DM patients to help them regulate their daily diet for healing this disease. In this research, we calculate the number of caloric needs using Harris-Benedict equation and propose genetic algorithm for scheduling diet for DM patient. The results show that the greater the number of individuals, the greater the more the possibility of changes in fitness score approaches the best fitness score. Moreover, the greater the created generation, the more the opportunites to obtain best individual with fitness score approaching 0 or equal to 0.

  9. An imaging genetics approach to understanding social influence

    OpenAIRE

    Emily eFalk; Emily eFalk; Baldwin eWay; Agnes eJasinska

    2012-01-01

    Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain’s reward system. We next review neur...

  10. An imaging genetics approach to understanding social influence

    OpenAIRE

    Falk, Emily B.; Way, Baldwin M.; Jasinska, Agnes J.

    2012-01-01

    Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain's reward system. We next review neuro...

  11. Delineating the genetic heterogeneity of OCA in Hungarian patients.

    Science.gov (United States)

    Fábos, Beáta; Farkas, Katalin; Tóth, Lola; Sulák, Adrienn; Tripolszki, Kornélia; Tihanyi, Mariann; Németh, Réka; Vas, Krisztina; Csoma, Zsanett; Kemény, Lajos; Széll, Márta; Nagy, Nikoletta

    2017-06-19

    Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13). Mutation screening and polymorphism analysis were performed by direct sequencing on TYR, OCA2, SLC45A2 genes. Although the clinical features of the investigated Hungarian OCA patients were identical, the molecular genetic data suggested OCA1 subtype in eight cases and OCA4 subtype in two cases. The molecular diagnosis was not clearly identifiable in three cases. In four patients, two different heterozygous known pathogenic or predicted to be pathogenic mutations were present. Seven patients had only one pathogenic mutation, which was associated with non-pathogenic variants in six cases. In two patients no pathogenic mutation was identified. Our results suggest that the concomitant screening of the non-pathogenic variants-which alone do not cause the development of OCA, but might have clinical significance in association with a pathogenic variant-is important. Our results also show significant variation in the disease spectrum compared to other populations. These data also confirm that the concomitant analysis of OCA genes is critical, providing new insights to the phenotypic diversity of OCA and expanding the mutation spectrum of OCA genes in Hungarian patients.

  12. Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia.

    Science.gov (United States)

    Wolthusen, Rick P F; Hass, Johanna; Walton, Esther; Turner, Jessica A; Rössner, Veit; Sponheim, Scott R; Ho, Beng-Choon; Holt, Daphne J; Gollub, Randy L; Calhoun, Vince; Ehrlich, Stefan

    2015-08-07

    Schizophrenia is a highly disabling psychiatric disorder with a heterogeneous phenotypic appearance. We aimed to further the understanding of some of the underlying genetics of schizophrenia, using left superior temporal gyrus (STG) grey matter thickness reduction as an endophenoptype in a genome-wide association (GWA) study. Structural magnetic resonance imaging (MRI) and genetic data of the Mind Clinical Imaging Consortium (MCIC) study of schizophrenia were used to analyse the interaction effects between 1,067,955 single nucleotide polymorphisms (SNPs) and disease status on left STG thickness in 126 healthy controls and 113 patients with schizophrenia. We next used a pathway approach to detect underlying pathophysiological pathways that may be related to schizophrenia. No SNP by diagnosis interaction effect reached genome-wide significance (5 × 10 -8 ) in our GWA study, but 10 SNPs reached P-values less than 10 -6 . The most prominent pathways included those involved in insulin, calcium, PI3K-Akt and MAPK signalling. Our strongest findings in the GWA study and pathway analysis point towards an involvement of glucose metabolism in left STG thickness reduction in patients with schizophrenia only. These results are in line with recently published studies, which showed an increased prevalence of psychosis among patients with metabolic syndrome-related illnesses including diabetes.

  13. Diagnostic imaging of the acutely injured patient

    International Nuclear Information System (INIS)

    Berquist, T.H.

    1985-01-01

    This book provides an analysis of pathophysiologic concepts of trauma and reviews the effectiveness of the available imaging modalities in acute trauma of various organ system. Topics covered are chest injuries; abdominal trauma; fractures of long bones; the foot and ankle; the knee; hand and wrist; the elbow; the shoulder; the pelvis hips; the spine; the skull and facial trauma and the clinical assessment of multiple injuries patients. Comparative evaluation of diagnostic techniques of radiography is discussed. Normal anatomy and bone fractures along with soft-tissue injuries are described

  14. The Imaging and Cognition Genetics Conference 2011, ICG 2011: A meeting of minds

    Directory of Open Access Journals (Sweden)

    Stephanie eLe Hellard

    2012-05-01

    Full Text Available In June 2011, seventy researchers from the disciplines of cognitive science, genetics, psychology, psychiatry, neurobiology and computer science gathered in Os, Norway, for the first Imaging and Cognition Genetics meeting. The aim of the conference was to discuss progress, enhance collaboration and maximise resource sharing within this new field. Here we summarise some of the major themes that emerged from ICG 2011.

  15. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  16. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

  17. MR imaging findings in patients with epilepsy

    International Nuclear Information System (INIS)

    Honghan, Gong; Hiraishi, Kumiko; Matsuoka, Takae

    1994-01-01

    We retrospectively examined the MR imaging (MRI) findings in 144 patients with epilepsy (31 with temporal lobe epilepsy and 113 with other epilepsies). 110 cases (76.4%) showed abnormal findings such as spotty lesions in white matter, hippocampal atrophy and/or signal change, ventricular dilatation and/or deformity, developmental lesions, brain tumors and so on. Hippocampal atrophy and/or signal change was shown in 74.1% of temporal lobe epilepsy, a remarkably high percentage (p<0.01) compared with the other types of epilepsies (18.1%). This finding means that hippocampal lesions may play a large part in the cause of temporal lobe epilepsy. Investigation of the relationship between clinical term and abnormal findings revealed that the longer the clinical term, the large the number of hippocampal lesions, regardless of whether it is temporal lobe epilepsy or not. Thus hippocampal lesions may occur as a result of hypoxia accompanied with seizure. Therefore we recommend horizontal and/or vertical sections of hippocampus in MR imaging of all patients with epilepsy. Even though MR finding may reflect some secondary lesions, MRI will shed some light on the proper understanding of epilepsy. (author)

  18. Patient-Centered Care in Breast Cancer Genetic Clinics

    Directory of Open Access Journals (Sweden)

    Anne Brédart

    2018-02-01

    Full Text Available With advances in breast cancer (BC gene panel testing, risk counseling has become increasingly complex, potentially leading to unmet psychosocial needs. We assessed psychosocial needs and correlates in women initiating testing for high genetic BC risk in clinics in France and Germany, and compared these results with data from a literature review. Among the 442 counselees consecutively approached, 212 (83% in France and 180 (97% in Germany, mostly BC patients (81% and 92%, respectively, returned the ‘Psychosocial Assessment in Hereditary Cancer’ questionnaire. Based on the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA BC risk estimation model, the mean BC lifetime risk estimates were 19% and 18% in France and Germany, respectively. In both countries, the most prevalent needs clustered around the “living with cancer” and “children-related issues” domains. In multivariate analyses, a higher number of psychosocial needs were significantly associated with younger age (b = −0.05, higher anxiety (b = 0.78, and having children (b = 1.51, but not with country, educational level, marital status, depression, or loss of a family member due to hereditary cancer. These results are in line with the literature review data. However, this review identified only seven studies that quantitatively addressed psychosocial needs in the BC genetic counseling setting. Current data lack understandings of how cancer risk counseling affects psychosocial needs, and improves patient-centered care in that setting.

  19. Genetic algorithms for thyroid gland ultrasound image feature reduction

    Czech Academy of Sciences Publication Activity Database

    Tesař, Ludvík; Smutek, D.; Jiskra, J.

    2005-01-01

    Roč. 3612, č. - (2005), s. 841-844 ISSN 0302-9743. [International Conference ICNC 2005 /1./. Changsha, 27.08.2005-29.08.2005] R&D Projects: GA AV ČR 1ET101050403 Institutional research plan: CEZ:AV0Z10750506 Keywords : medical imaging * classification * Bayes classifier * Huzzolini feature * pattern recognition Subject RIV: BB - Applied Statistics, Operational Research http://library.utia.cas.cz/prace/20050229.pdf

  20. Robust Image Analysis of Faces for Genetic Applications

    Czech Academy of Sciences Publication Activity Database

    Kalina, Jan

    2010-01-01

    Roč. 6, č. 2 (2010), s. 95-102 ISSN 1801-5603 R&D Projects: GA MŠk(CZ) 1M06014 Institutional research plan: CEZ:AV0Z10300504 Keywords : object localization * template matching * eye or mouth detection * robust correlation analysis * image denoising Subject RIV: BB - Applied Statistics, Operational Research http://www.ejbi.cz/articles/201012/47/1.html

  1. HYDRA: Revealing heterogeneity of imaging and genetic patterns through a multiple max-margin discriminative analysis framework.

    Science.gov (United States)

    Varol, Erdem; Sotiras, Aristeidis; Davatzikos, Christos

    2017-01-15

    Multivariate pattern analysis techniques have been increasingly used over the past decade to derive highly sensitive and specific biomarkers of diseases on an individual basis. The driving assumption behind the vast majority of the existing methodologies is that a single imaging pattern can distinguish between healthy and diseased populations, or between two subgroups of patients (e.g., progressors vs. non-progressors). This assumption effectively ignores the ample evidence for the heterogeneous nature of brain diseases. Neurodegenerative, neuropsychiatric and neurodevelopmental disorders are largely characterized by high clinical heterogeneity, which likely stems in part from underlying neuroanatomical heterogeneity of various pathologies. Detecting and characterizing heterogeneity may deepen our understanding of disease mechanisms and lead to patient-specific treatments. However, few approaches tackle disease subtype discovery in a principled machine learning framework. To address this challenge, we present a novel non-linear learning algorithm for simultaneous binary classification and subtype identification, termed HYDRA (Heterogeneity through Discriminative Analysis). Neuroanatomical subtypes are effectively captured by multiple linear hyperplanes, which form a convex polytope that separates two groups (e.g., healthy controls from pathologic samples); each face of this polytope effectively defines a disease subtype. We validated HYDRA on simulated and clinical data. In the latter case, we applied the proposed method independently to the imaging and genetic datasets of the Alzheimer's Disease Neuroimaging Initiative (ADNI 1) study. The imaging dataset consisted of T1-weighted volumetric magnetic resonance images of 123 AD patients and 177 controls. The genetic dataset consisted of single nucleotide polymorphism information of 103 AD patients and 139 controls. We identified 3 reproducible subtypes of atrophy in AD relative to controls: (1) diffuse and extensive

  2. Genetic testing for cystic fibrosis in adult patients

    Directory of Open Access Journals (Sweden)

    Marina Mencinger

    2006-02-01

    Full Text Available Background: Cystic fibrosis (CF is an autosomal recessive disease caused by mutations in gene encoding cystic fibrosis transmembrane regulator (CFTR protein. Over 1400 mutations found in the gene contribute to the complexity of the CF phenotypes ranging from a classic multiorgan disease commonly involving respiratory, gastrointestinal and reproductive tract to mild and monosymptomatic presentations. Pilocarpine iontophoresis is considered as standard diagnostic test for CF, but it often fails in atypical forms of CF.Methods: In order to provide an additional diagnostic test to assure the diagnosis and provide patients with a proper medical care, we performed a genetic testing on 16 adults suspected to have atypical form of CF. Following counselling, parents of patients with possible homozygote variant of mutations were tested. On a personal request testing was also performed in an adult sibling of a patient with two known mutations to investigate possible carrier hood. The allele specific polymerase chain reaction method (PCR was used to detect 29 most common mutations in the cftr gene.Results: The diagnosis was proved in 3 individuals, a homozygote for Δ F508, and two compound heterozygotes Δ F508/R1162X and Δ F508/3849+10kbC>T. In three cases only one mutation was found: I148T, 2789+5G>A and Δ F508 in a heterozygote form.Conclusions: The genetic testing for CF is a valuable diagnostic tool in atypical forms of CF. Exclusion of possible differential diagnosis is warranted because of a variable CF phenotype. In cases where only one or no mutation was detected a necessity of whole gene sequencing is indicated to exclude rare mutations and polymorphisms that could be implicated in the pathogenesis of atypical CF.

  3. [A survey of willingness about genetic counseling and tests in patients of epithelial ovarian cancer].

    Science.gov (United States)

    Li, L; Qiu, L; Wu, M

    2017-11-21

    Objective: To analyze patients' tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer. Methods: From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given. Results: Among all 220 patients, 10 (4.5%) denied further counseling.For 210 patients receiving genetic counseling, 170 (81%) accepted genetic tests.In multivariate analysis, risk factors relevant to acceptance of genetic tests included: being charged by physicians of gynecologic oncology for diagnosis and treatment, receiving counseling in genetic counseling clinics, and having family history of breast cancer.For patients denying genetic tests, there were many subjective reasons, among which, "still not understanding genetic tests" (25%) and "unable bear following expensive targeting medicine" . Conclusions: High proportion patients of epithelial ovarian cancer would accept genetic counseling and tests.Genetic counseling clinics for gynecologic oncology would further improve genetic tests for patients.

  4. Sparse Canonical Correlation Analysis via Truncated ℓ1-norm with Application to Brain Imaging Genetics.

    Science.gov (United States)

    Du, Lei; Zhang, Tuo; Liu, Kefei; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L; Guo, Lei; Saykin, Andrew J; Shen, Li

    2016-01-01

    Discovering bi-multivariate associations between genetic markers and neuroimaging quantitative traits is a major task in brain imaging genetics. Sparse Canonical Correlation Analysis (SCCA) is a popular technique in this area for its powerful capability in identifying bi-multivariate relationships coupled with feature selection. The existing SCCA methods impose either the ℓ 1 -norm or its variants. The ℓ 0 -norm is more desirable, which however remains unexplored since the ℓ 0 -norm minimization is NP-hard. In this paper, we impose the truncated ℓ 1 -norm to improve the performance of the ℓ 1 -norm based SCCA methods. Besides, we propose two efficient optimization algorithms and prove their convergence. The experimental results, compared with two benchmark methods, show that our method identifies better and meaningful canonical loading patterns in both simulated and real imaging genetic analyse.

  5. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Directory of Open Access Journals (Sweden)

    A. Dessa Sadovnick

    2016-07-01

    Full Text Available Multiple sclerosis (MS is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D in plasminogen (PLG as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351 in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117, despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87. To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

  6. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Science.gov (United States)

    Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

    2016-01-01

    Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

  7. Transcriptome-guided amyloid imaging genetic analysis via a novel structured sparse learning algorithm.

    Science.gov (United States)

    Yan, Jingwen; Du, Lei; Kim, Sungeun; Risacher, Shannon L; Huang, Heng; Moore, Jason H; Saykin, Andrew J; Shen, Li

    2014-09-01

    Imaging genetics is an emerging field that studies the influence of genetic variation on brain structure and function. The major task is to examine the association between genetic markers such as single-nucleotide polymorphisms (SNPs) and quantitative traits (QTs) extracted from neuroimaging data. The complexity of these datasets has presented critical bioinformatics challenges that require new enabling tools. Sparse canonical correlation analysis (SCCA) is a bi-multivariate technique used in imaging genetics to identify complex multi-SNP-multi-QT associations. However, most of the existing SCCA algorithms are designed using the soft thresholding method, which assumes that the input features are independent from one another. This assumption clearly does not hold for the imaging genetic data. In this article, we propose a new knowledge-guided SCCA algorithm (KG-SCCA) to overcome this limitation as well as improve learning results by incorporating valuable prior knowledge. The proposed KG-SCCA method is able to model two types of prior knowledge: one as a group structure (e.g. linkage disequilibrium blocks among SNPs) and the other as a network structure (e.g. gene co-expression network among brain regions). The new model incorporates these prior structures by introducing new regularization terms to encourage weight similarity between grouped or connected features. A new algorithm is designed to solve the KG-SCCA model without imposing the independence constraint on the input features. We demonstrate the effectiveness of our algorithm with both synthetic and real data. For real data, using an Alzheimer's disease (AD) cohort, we examine the imaging genetic associations between all SNPs in the APOE gene (i.e. top AD gene) and amyloid deposition measures among cortical regions (i.e. a major AD hallmark). In comparison with a widely used SCCA implementation, our KG-SCCA algorithm produces not only improved cross-validation performances but also biologically meaningful

  8. Genetic and clinical characteristics of patients with phenylketonuria in Slovenia

    Directory of Open Access Journals (Sweden)

    Urh Grošelj

    2013-12-01

    Full Text Available Phenylketonuria (PKU, an autosomal recessive disease, is the most common inborn error of amino acid metabolism in Caucasians, affecting 1/10,000 individuals. PKU is caused by the deficiency of hepatic phenylalanine hydroxylase (PAH, which catalyzes the hydroxylation of phenylalanine (Phe to tyrosine, using tetrahydrobiopterin (BH4 as a cofactor. The PAH gene is located on the chromosome 12 and consists of 13 exons. Over 600 different mutations of the PAH gene have been identified to date, which result in a broad spectrum of PAH deficiency. The resulting elevation of Phe in the blood (hyperphenilalaninemia – HPA could cause mental retardation if left untreated. The classification of PKU is based on the metabolic phenotype of a patient (according to HPA level; discerned could be three subclasses of PKU (classic, moderate, mild and mild HPA, which is a separate clinical entity.The incidence of classical PKU in the Slovene population was estimated to be 1/10,000, corresponding to a carrier frequency of about 1/50. The cumulative incidence of all subtypes of PKU (classic, moderate, mild is around 1/6,000; the incidence of mild HPA is around 1/3,500. The article also reviews the previously published studies on the genetic and phenotypic characteristics of Slovenian PKU patients, performed at the Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children’s Hospital Ljubljana, in years 2008–2012. The genetic characteristics of the Slovenian PKU population were concordant with other neighbouring populations; five novel mutations of PAH gene were detected in the population.The mandatory neonatal PKU screening in Slovenia was implemented in 1979. The dietary therapy based on a restricted Phe intake should be introduced as soon as possible after birth; in responders, BH4 treatment increases the dietary Phe tolerance.

  9. Medical Imaging Informatics: Towards a Personalized Computational Patient.

    Science.gov (United States)

    Ayache, N

    2016-05-20

    Medical Imaging Informatics has become a fast evolving discipline at the crossing of Informatics, Computational Sciences, and Medicine that is profoundly changing medical practices, for the patients' benefit.

  10. Diagnosing Breast Cancer with the Aid of Fuzzy Logic Based on Data Mining of a Genetic Algorithm in Infrared Images

    Directory of Open Access Journals (Sweden)

    Hossein Ghayoumi Zadeh

    2012-10-01

    Full Text Available Background: Breast cancer is one of the most prevalent cancers among women today. The importance of breast cancer screening, its role in the timely identification of patients, and the reduction in treatment expenses are considered to be among the highest sanitary priorities of a modern country. Thermal imaging clearly possesses a special role in this stage due to rapid diagnosis and use of harmless rays.Methods: We used a thermal camera for imaging of the patients. Important parameters were derived from the images for their posterior analysis with the aid of a genetic algorithm. The principal components that were entered in a fuzzy neural network for clustering breast cancer were identified.Results: The number of images considered for the test included a database of 200 patients out of whom 15 were diagnosed with breast cancer via mammography. Results of the base method show a sensitivity of 93%. The selection of parameters in the combination module gave rise measured errors, which in training of the fuzzy-neural network were of the order of clustering 1.0923×10-5, which reached 2%.Conclusion: The study indicates that thermal image scanning coupled with the presented method based on artificial intelligence can possess a special status in screening women for breast cancer due to the use of harmless non-radiation rays. There are cases where physicians cannot decisively say that the observed pattern in theimage is benign or malignant. In such cases, the response of the computer model can be a valuable support tool for the physician enabling an accurate diagnosis based on the type of imaging pattern as a response from the computer model.

  11. Application of Genetic Algorithm and Particle Swarm Optimization techniques for improved image steganography systems

    Directory of Open Access Journals (Sweden)

    Jude Hemanth Duraisamy

    2016-01-01

    Full Text Available Image steganography is one of the ever growing computational approaches which has found its application in many fields. The frequency domain techniques are highly preferred for image steganography applications. However, there are significant drawbacks associated with these techniques. In transform based approaches, the secret data is embedded in random manner in the transform coefficients of the cover image. These transform coefficients may not be optimal in terms of the stego image quality and embedding capacity. In this work, the application of Genetic Algorithm (GA and Particle Swarm Optimization (PSO have been explored in the context of determining the optimal coefficients in these transforms. Frequency domain transforms such as Bandelet Transform (BT and Finite Ridgelet Transform (FRIT are used in combination with GA and PSO to improve the efficiency of the image steganography system.

  12. Abdomen disease diagnosis in CT images using flexiscale curvelet transform and improved genetic algorithm.

    Science.gov (United States)

    Sethi, Gaurav; Saini, B S

    2015-12-01

    This paper presents an abdomen disease diagnostic system based on the flexi-scale curvelet transform, which uses different optimal scales for extracting features from computed tomography (CT) images. To optimize the scale of the flexi-scale curvelet transform, we propose an improved genetic algorithm. The conventional genetic algorithm assumes that fit parents will likely produce the healthiest offspring that leads to the least fit parents accumulating at the bottom of the population, reducing the fitness of subsequent populations and delaying the optimal solution search. In our improved genetic algorithm, combining the chromosomes of a low-fitness and a high-fitness individual increases the probability of producing high-fitness offspring. Thereby, all of the least fit parent chromosomes are combined with high fit parent to produce offspring for the next population. In this way, the leftover weak chromosomes cannot damage the fitness of subsequent populations. To further facilitate the search for the optimal solution, our improved genetic algorithm adopts modified elitism. The proposed method was applied to 120 CT abdominal images; 30 images each of normal subjects, cysts, tumors and stones. The features extracted by the flexi-scale curvelet transform were more discriminative than conventional methods, demonstrating the potential of our method as a diagnostic tool for abdomen diseases.

  13. Pattern Discovery in Brain Imaging Genetics via SCCA Modeling with a Generic Non-convex Penalty.

    Science.gov (United States)

    Du, Lei; Liu, Kefei; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L; Han, Junwei; Guo, Lei; Saykin, Andrew J; Shen, Li

    2017-10-25

    Brain imaging genetics intends to uncover associations between genetic markers and neuroimaging quantitative traits. Sparse canonical correlation analysis (SCCA) can discover bi-multivariate associations and select relevant features, and is becoming popular in imaging genetic studies. The L1-norm function is not only convex, but also singular at the origin, which is a necessary condition for sparsity. Thus most SCCA methods impose [Formula: see text]-norm onto the individual feature or the structure level of features to pursuit corresponding sparsity. However, the [Formula: see text]-norm penalty over-penalizes large coefficients and may incurs estimation bias. A number of non-convex penalties are proposed to reduce the estimation bias in regression tasks. But using them in SCCA remains largely unexplored. In this paper, we design a unified non-convex SCCA model, based on seven non-convex functions, for unbiased estimation and stable feature selection simultaneously. We also propose an efficient optimization algorithm. The proposed method obtains both higher correlation coefficients and better canonical loading patterns. Specifically, these SCCA methods with non-convex penalties discover a strong association between the APOE e4 rs429358 SNP and the hippocampus region of the brain. They both are Alzheimer's disease related biomarkers, indicating the potential and power of the non-convex methods in brain imaging genetics.

  14. Uptake of genetic counselling services by patients with cystic fibrosis ...

    African Journals Online (AJOL)

    Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing ...

  15. Enhancing contrast of magnetic resonance imaging in patients with ...

    African Journals Online (AJOL)

    DTPA), a recent magnetic resonance imaging (MRI) contrast agent, in hepatobiliary system of patients with liver cirrhosis. Methods: Liver cirrhosis patients that underwent contrast MRI examination at Renai Hospital, Taipei City, Taiwan were ...

  16. Quantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsy

    Directory of Open Access Journals (Sweden)

    Saud Alhusaini

    2016-01-01

    Full Text Available Over the last decade, the field of imaging genomics has combined high-throughput genotype data with quantitative magnetic resonance imaging (QMRI measures to identify genes associated with brain structure, cognition, and several brain-related disorders. Despite its successful application in different psychiatric and neurological disorders, the field has yet to be advanced in epilepsy. In this article we examine the relevance of imaging genomics for future genetic studies in epilepsy from three perspectives. First, we discuss prior genome-wide genetic mapping efforts in epilepsy, considering the possibility that some studies may have been constrained by inherent theoretical and methodological limitations of the genome-wide association study (GWAS method. Second, we offer a brief overview of the imaging genomics paradigm, from its original inception, to its role in the discovery of important risk genes in a number of brain-related disorders, and its successful application in large-scale multinational research networks. Third, we provide a comprehensive review of past studies that have explored the eligibility of brain QMRI traits as endophenotypes for epilepsy. While the breadth of studies exploring QMRI-derived endophenotypes in epilepsy remains narrow, robust syndrome-specific neuroanatomical QMRI traits have the potential to serve as accessible and relevant intermediate phenotypes for future genetic mapping efforts in epilepsy.

  17. Exercise thallium imaging in patients with diabetes mellitus. Prognostic implications

    International Nuclear Information System (INIS)

    Felsher, J.; Meissner, M.D.; Hakki, A.H.; Heo, J.; Kane-Marsch, S.; Iskandrian, A.S.

    1987-01-01

    We used exercise thallium 201 imaging in 123 patients with diabetes mellitus (77 men and 46 women, aged 56 +/- 8 years), 75% of whom had angina pectoris (typical or atypical). During exercise testing, 18 patients (15%) had angina pectoris, 28 (23%) had ischemic ST changes, and 69 (56%) had abnormal thallium images. During follow-up (up to 36 months), there were 12 cardiac events; four patients died of cardiac causes and eight had nonfatal acute myocardial infarction. Univariate and multivariate survival analysis identified two independent predictors of cardiac events: the event rate was significantly less in patients with normal images and exercise heart rate over 120 beats per minute than in patients with abnormal images and exercise heart rate of 120 beats per minute or less (0% vs 22%). The patients with abnormal images or exercise heart rate of 120 beats per minute or less had an intermediate event rate (11.5%). Furthermore, two of the 54 patients with normal images and ten of 69 patients with abnormal images had subsequent cardiac events. Thus, exercise thallium imaging is useful in risk stratification in patients with diabetes mellitus

  18. Balancing patient dose and image quality

    International Nuclear Information System (INIS)

    Martin, C.J.; Sutton, D.G.; Sharp, P.F.

    1999-01-01

    The formation of images in diagnostic radiology involves a complex interdependence of many factors. The ideal balance is to obtain an image which is adequate for the clinical purpose with the minimum radiation dose. Factors which affect radiation dose and image quality can be grouped under three headings; radiation quality, photon fluence and removal of scattered radiation. If optimal performance is to be achieved, it is necessary to understand how these factors influence image formation and affect radiation dose, and apply methodology for image quality and dose analysis at each stage in the development and use of X-ray equipment

  19. Magnetic resonance imaging findings in patients with medial epicondylitis

    Energy Technology Data Exchange (ETDEWEB)

    Kijowski, Richard; Smet, Arthur A. De [University of Wisconsin Hospital, Department of Radiology, Madison (United States)

    2005-04-01

    To compare the MR imaging findings of 13 patients with clinically diagnosed medial epicondylitis with the MR imaging findings of 26 patients of similar age with no clinical evidence of medial epicondylitis. The study group consisted of 13 patients with clinically diagnosed medial epicondylitis. The control group consisted of 26 patients of similar age with no clinical evidence of medial epicondylitis. The medical records and MR imaging findings of these patients were retrospectively reviewed by two fellowship-trained musculoskeletal radiologists. Eleven of the 13 patients in the study group had thickening and increased signal intensity of the common flexor tendon on both T1-weighted and T2-weighted images. The remaining two patients in the study group had soft tissue edema around a normal-appearing common flexor tendon. Twenty-one of the 26 patients in the control group had a normal-appearing common flexor tendon on MR imaging. Three patients in the control group had a thickened common flexor tendon which was of intermediate signal intensity on T1-weighted images but of uniform low signal intensity on T2-weighted images. Two patients in the control group had a thickened common flexor tendon which was of intermediate signal intensity on both T1-weighted and T2-weighted images. None of the patients in the control group had soft tissue edema around the common flexor tendon. MR imaging findings of patients with clinically diagnosed medial epicondylitis included thickening and increased T1 and T2 signal intensity of the common flexor tendon and soft tissue edema around the common flexor tendon. The presence of intermediate to high T2 signal intensity or high T2 signal intensity within the common flexor tendon and the presence of paratendinous soft tissue edema were the most specific findings of medial epicondylitis on MR imaging. (orig.)

  20. MR imaging findings in patients with mesial temporal sclerosis

    International Nuclear Information System (INIS)

    Zimmerman, R.A.; Sperling, M.; Bilaniuk, L.T.; O'Connor, M.; Hackney, D.B.; Grossman, R.I.; Goldberg, H.I.; Gonatas, N.

    1987-01-01

    Eleven patients (aged 19-37) with temporal lobe epilepsy were evaluated by 1.5-T MR imaging. The MR imaging followed a negative CT examination. All patients underwent ictal and interictal, depth electrode EEG recording, carotid arteriography with amytol test, neuropsychological testing, subsequent unilateral temporal lobectomy, and pathologic correlation. MR images were retrospectively reviewed and correlated. MR images in ten patients showed a small temporal lobe on the abnormal side. Abnormal signal intensity was not found within the temporal lobe despite the use of coronal and axial long TR (2,500 msec) and short and long TE(30 and 80 msec) studies

  1. Radiation exposure from diagnostic imaging among patients with gastrointestinal disorders.

    LENUS (Irish Health Repository)

    Desmond, Alan N

    2012-03-01

    There are concerns about levels of radiation exposure among patients who undergo diagnostic imaging for inflammatory bowel disease (IBD), compared with other gastrointestinal (GI) disorders. We quantified imaging studies and estimated the cumulative effective dose (CED) of radiation received by patients with organic and functional GI disorders. We also identified factors and diagnoses associated with high CEDs.

  2. Image-based computational quantification and visualization of genetic alterations and tumour heterogeneity.

    Science.gov (United States)

    Zhong, Qing; Rüschoff, Jan H; Guo, Tiannan; Gabrani, Maria; Schüffler, Peter J; Rechsteiner, Markus; Liu, Yansheng; Fuchs, Thomas J; Rupp, Niels J; Fankhauser, Christian; Buhmann, Joachim M; Perner, Sven; Poyet, Cédric; Blattner, Miriam; Soldini, Davide; Moch, Holger; Rubin, Mark A; Noske, Aurelia; Rüschoff, Josef; Haffner, Michael C; Jochum, Wolfram; Wild, Peter J

    2016-04-07

    Recent large-scale genome analyses of human tissue samples have uncovered a high degree of genetic alterations and tumour heterogeneity in most tumour entities, independent of morphological phenotypes and histopathological characteristics. Assessment of genetic copy-number variation (CNV) and tumour heterogeneity by fluorescence in situ hybridization (ISH) provides additional tissue morphology at single-cell resolution, but it is labour intensive with limited throughput and high inter-observer variability. We present an integrative method combining bright-field dual-colour chromogenic and silver ISH assays with an image-based computational workflow (ISHProfiler), for accurate detection of molecular signals, high-throughput evaluation of CNV, expressive visualization of multi-level heterogeneity (cellular, inter- and intra-tumour heterogeneity), and objective quantification of heterogeneous genetic deletions (PTEN) and amplifications (19q12, HER2) in diverse human tumours (prostate, endometrial, ovarian and gastric), using various tissue sizes and different scanners, with unprecedented throughput and reproducibility.

  3. An Image Segmentation Based on a Genetic Algorithm for Determining Soil Coverage by Crop Residues

    Science.gov (United States)

    Ribeiro, Angela; Ranz, Juan; Burgos-Artizzu, Xavier P.; Pajares, Gonzalo; Sanchez del Arco, Maria J.; Navarrete, Luis

    2011-01-01

    Determination of the soil coverage by crop residues after ploughing is a fundamental element of Conservation Agriculture. This paper presents the application of genetic algorithms employed during the fine tuning of the segmentation process of a digital image with the aim of automatically quantifying the residue coverage. In other words, the objective is to achieve a segmentation that would permit the discrimination of the texture of the residue so that the output of the segmentation process is a binary image in which residue zones are isolated from the rest. The RGB images used come from a sample of images in which sections of terrain were photographed with a conventional camera positioned in zenith orientation atop a tripod. The images were taken outdoors under uncontrolled lighting conditions. Up to 92% similarity was achieved between the images obtained by the segmentation process proposed in this paper and the templates made by an elaborate manual tracing process. In addition to the proposed segmentation procedure and the fine tuning procedure that was developed, a global quantification of the soil coverage by residues for the sampled area was achieved that differed by only 0.85% from the quantification obtained using template images. Moreover, the proposed method does not depend on the type of residue present in the image. The study was conducted at the experimental farm “El Encín” in Alcalá de Henares (Madrid, Spain). PMID:22163966

  4. Evolutionary Cellular Automata for Image Segmentation and Noise Filtering Using Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Sihem SLATNIA

    2011-01-01

    Full Text Available We use an evolutionary process to seek a specialized set of rules among a wide range of rules to be used by Cellular Automata (CA for a range of tasks,extracting edges in a given gray or colour image, noise filtering applied to black-white image. This is the best set of local rules determine the future state of CA in an asynchronous way. The Genetic Algorithm (GA is applied to search the best CA rules that can realize the best edge detection and noise filtering.

  5. Evolutionary Cellular Automata for Image Segmentation and Noise Filtering Using Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Okba Kazar

    2011-01-01

    Full Text Available We use an evolutionary process to seek a specialized set of rules among a wide range of rules to be used by Cellular Automata (CA for a range of tasks, extracting edges in a given gray or colour image, noise filtering applied to black-white image. This is the best set of local rules determine the future state of CA in an asynchronous way. The Genetic Algorithm (GA is applied to search the best CA rules that can realize the best edge detection and noise filtering.

  6. A Rigid Image Registration Based on the Nonsubsampled Contourlet Transform and Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Nasreddine Taleb

    2010-09-01

    Full Text Available Image registration is a fundamental task used in image processing to match two or more images taken at different times, from different sensors or from different viewpoints. The objective is to find in a huge search space of geometric transformations, an acceptable accurate solution in a reasonable time to provide better registered images. Exhaustive search is computationally expensive and the computational cost increases exponentially with the number of transformation parameters and the size of the data set. In this work, we present an efficient image registration algorithm that uses genetic algorithms within a multi-resolution framework based on the Non-Subsampled Contourlet Transform (NSCT. An adaptable genetic algorithm for registration is adopted in order to minimize the search space. This approach is used within a hybrid scheme applying the two techniques fitness sharing and elitism. Two NSCT based methods are proposed for registration. A comparative study is established between these methods and a wavelet based one. Because the NSCT is a shift-invariant multidirectional transform, the second method is adopted for its search speeding up property. Simulation results clearly show that both proposed techniques are really promising methods for image registration compared to the wavelet approach, while the second technique has led to the best performance results of all. Moreover, to demonstrate the effectiveness of these methods, these registration techniques have been successfully applied to register SPOT, IKONOS and Synthetic Aperture Radar (SAR images. The algorithm has been shown to work perfectly well for multi-temporal satellite images as well, even in the presence of noise.

  7. A rigid image registration based on the nonsubsampled contourlet transform and genetic algorithms.

    Science.gov (United States)

    Meskine, Fatiha; Chikr El Mezouar, Miloud; Taleb, Nasreddine

    2010-01-01

    Image registration is a fundamental task used in image processing to match two or more images taken at different times, from different sensors or from different viewpoints. The objective is to find in a huge search space of geometric transformations, an acceptable accurate solution in a reasonable time to provide better registered images. Exhaustive search is computationally expensive and the computational cost increases exponentially with the number of transformation parameters and the size of the data set. In this work, we present an efficient image registration algorithm that uses genetic algorithms within a multi-resolution framework based on the Non-Subsampled Contourlet Transform (NSCT). An adaptable genetic algorithm for registration is adopted in order to minimize the search space. This approach is used within a hybrid scheme applying the two techniques fitness sharing and elitism. Two NSCT based methods are proposed for registration. A comparative study is established between these methods and a wavelet based one. Because the NSCT is a shift-invariant multidirectional transform, the second method is adopted for its search speeding up property. Simulation results clearly show that both proposed techniques are really promising methods for image registration compared to the wavelet approach, while the second technique has led to the best performance results of all. Moreover, to demonstrate the effectiveness of these methods, these registration techniques have been successfully applied to register SPOT, IKONOS and Synthetic Aperture Radar (SAR) images. The algorithm has been shown to work perfectly well for multi-temporal satellite images as well, even in the presence of noise.

  8. Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses

    Science.gov (United States)

    2013-01-01

    Background Cerebellar abiotrophy (CA) is a rare but significant disease in Arabian horses caused by progressive death of the Purkinje cells resulting in cerebellar ataxia characterized by a typical head tremor, jerky head movements and lack of menace response. The specific role of magnetic resonance imaging (MRI) to support clinical diagnosis has been discussed. However, as yet MR imaging has only been described in one equine CA case. The role of MR morphometry in this regard is currently unknown. Due to the hereditary nature of the disease, genetic testing can support the diagnosis of CA. Therefore, the objective of this study was to perform MR morphometric analysis and genetic testing in four CA-affected Arabian horses and one German Riding Pony with purebred Arabian bloodlines in the third generation. Results CA was diagnosed pathohistologically in the five affected horses (2 months - 3 years) supported by clinical signs, necropsy, and genetic testing which confirmed the TOE1:g.2171G>A SNP genotype A/A in all CA-affected horses. On MR images morphometric analysis of the relative cerebellar size and relative cerebellar cerebrospinal fluid (CSF) space were compared to control images of 15 unaffected horses. It was demonstrated that in MR morphometric analyses, CA affected horses displayed a relatively smaller cerebellum compared to the entire brain mass than control animals (P = 0.0088). The relative cerebellar CSF space was larger in affected horses (P = 0.0017). Using a cut off value of 11.0% for relative cerebellar CSF space, the parameter differentiated between CA-affected horses and controls with a sensitivity of 100% and a specificity of 93.3%. Conclusions In conclusion, morphometric MRI and genetic analysis could be helpful to support the diagnosis of CA in vivo. PMID:23702154

  9. Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.

    Science.gov (United States)

    Omaggio, NinaMarie F; Baker, Maria J; Conway, Laura J

    2018-04-01

    Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n = 344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n = 110/397) have visited a patient's social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n = 43/56). Thirty-three percent (n = 130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n = 114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.

  10. Watermarking patient data in encrypted medical images

    Indian Academy of Sciences (India)

    Due to the advancement of technology, internet has become an ... area including important information and must be stored without any distortion. .... Although someone with the knowledge of encryption key can obtain a decrypted image and ... ical image management, in: Engineering in Medicine and Biology Society.

  11. Imaging features of mycobacterium in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Yang Jun; Sun Yue; Wei Liangui; Xu Yunliang; Li Xingwang

    2013-01-01

    Objective: To analyze the imaging features of mycobacterium in AIDS patients. Methods: Twenty-three cases of mycobacterium tuberculosis and 13 patients of non-tuberculous mycobacteria were proved etiologically and included in this study. All patients underwent X-ray and CT examinations, imaging data were analyzed and compared. Results: The imaging findings of mycobacterium tuberculosis in AIDS patients included consolidation (n = 11), pleural effusion (n = 11), mediastinal lymphadenopathy (n = 11). Pulmonary lesions were always diffuse distribution, and 14 patients of extrapulmonary tuberculosis were found. Pulmonary lesions in non-tuberculous mycobacteria tend to be circumscribed. Conclusions: Non-tuberculous mycobacterial infection in AIDS patients is more common and usually combined with other infections. Imaging features are atypical. (authors)

  12. Genetic parameters of Visual Image Analysis primal cut carcass traits of commercial prime beef slaughter animals.

    Science.gov (United States)

    Moore, K L; Mrode, R; Coffey, M P

    2017-10-01

    Visual Image analysis (VIA) of carcass traits provides the opportunity to estimate carcass primal cut yields on large numbers of slaughter animals. This allows carcases to be better differentiated and farmers to be paid based on the primal cut yields. It also creates more accurate genetic selection due to high volumes of data which enables breeders to breed cattle that better meet the abattoir specifications and market requirements. In order to implement genetic evaluations for VIA primal cut yields, genetic parameters must first be estimated and that was the aim of this study. Slaughter records from the UK prime slaughter population for VIA carcass traits was available from two processing plants. After edits, there were 17 765 VIA carcass records for six primal cut traits, carcass weight as well as the EUROP conformation and fat class grades. Heritability estimates after traits were adjusted for age ranged from 0.32 (0.03) for EUROP fat to 0.46 (0.03) for VIA Topside primal cut yield. Adjusting the VIA primal cut yields for carcass weight reduced the heritability estimates, with estimates of primal cut yields ranging from 0.23 (0.03) for Fillet to 0.29 (0.03) for Knuckle. Genetic correlations between VIA primal cut yields adjusted for carcass weight were very strong, ranging from 0.40 (0.06) between Fillet and Striploin to 0.92 (0.02) between Topside and Silverside. EUROP conformation was also positively correlated with the VIA primal cuts with genetic correlation estimates ranging from 0.59 to 0.84, whereas EUROP fat was estimated to have moderate negative correlations with primal cut yields, estimates ranged from -0.11 to -0.46. Based on these genetic parameter estimates, genetic evaluation of VIA primal cut yields can be undertaken to allow the UK beef industry to select carcases that better meet abattoir specification and market requirements.

  13. Anesthesia Experiences During Magnetic Imaging Process on Pediatric Patients

    OpenAIRE

    Öztürk, Ömür; Üstebay, Sefer; Bilge, Ali

    2017-01-01

    We aim to study the quality of sedation and complications ratios during anesthesia applied with sodium thiopental and propofol and the reason of the magnetic imaging requests on pediatric patients retrospectively according to the hospital data. Material and Method: In this study, 109 patients, aged from 3 months to 5 years, that have been applied magnetic imaging process under anesthesia, have been examined retrospectively. Results: Pentotal sodium has been applied to 53 patients and propofol...

  14. Schedule Optimization of Imaging Missions for Multiple Satellites and Ground Stations Using Genetic Algorithm

    Science.gov (United States)

    Lee, Junghyun; Kim, Heewon; Chung, Hyun; Kim, Haedong; Choi, Sujin; Jung, Okchul; Chung, Daewon; Ko, Kwanghee

    2018-04-01

    In this paper, we propose a method that uses a genetic algorithm for the dynamic schedule optimization of imaging missions for multiple satellites and ground systems. In particular, the visibility conflicts of communication and mission operation using satellite resources (electric power and onboard memory) are integrated in sequence. Resource consumption and restoration are considered in the optimization process. Image acquisition is an essential part of satellite missions and is performed via a series of subtasks such as command uplink, image capturing, image storing, and image downlink. An objective function for optimization is designed to maximize the usability by considering the following components: user-assigned priority, resource consumption, and image-acquisition time. For the simulation, a series of hypothetical imaging missions are allocated to a multi-satellite control system comprising five satellites and three ground stations having S- and X-band antennas. To demonstrate the performance of the proposed method, simulations are performed via three operation modes: general, commercial, and tactical.

  15. Early Prediction of Sepsis Incidence in Critically Ill Patients Using Specific Genetic Polymorphisms.

    Science.gov (United States)

    David, Vlad Laurentiu; Ercisli, Muhammed Furkan; Rogobete, Alexandru Florin; Boia, Eugen S; Horhat, Razvan; Nitu, Razvan; Diaconu, Mircea M; Pirtea, Laurentiu; Ciuca, Ioana; Horhat, Delia; Horhat, Florin George; Licker, Monica; Popovici, Sonia Elena; Tanasescu, Sonia; Tataru, Calin

    2017-06-01

    Several diagnostic methods for the evaluation and monitoring were used to find out the pro-inflammatory status, as well as incidence of sepsis in critically ill patients. One such recent method is based on investigating the genetic polymorphisms and determining the molecular and genetic links between them, as well as other sepsis-associated pathophysiologies. Identification of genetic polymorphisms in critical patients with sepsis can become a revolutionary method for evaluating and monitoring these patients. Similarly, the complications, as well as the high costs associated with the management of patients with sepsis, can be significantly reduced by early initiation of intensive care.

  16. Initial patient imaging with an optimised radiotherapy beam for portal imaging

    International Nuclear Information System (INIS)

    Flampouri, Stella; McNair, Helen A.; Donovan, Ellen M.; Evans, Philip M.; Partridge, Mike; Verhaegen, Frank; Nutting, Christopher M.

    2005-01-01

    Background and purpose: To investigate the feasibility and the advantages of a portal-imaging mode on a medical accelerator, consisting of a thin low-Z bremsstrahlung target and a thin Gd 2 O 2 S/film detector, for patient imaging. Patients and methods: The international code of practice for high-energy photon dosimetry was used to calibrate dosimetry instruments for the imaging beam produced by 4.75 MeV electrons hitting a 6 mm thick aluminium target. Images of the head and neck of a humanoid phantom were taken with a mammography film system and the dose in the phantom was measured with TLDs calibrated for this beam. The first head and neck patient images are compared with conventional images (taken with the treatment beam on a film radiotherapy verification detector). Visibility of structures for six patients was evaluated. Results: Images of the head and neck of a humanoid phantom, taken with both imaging systems showed that the contrast increased dramatically for the new system while the dose required to form an image was less than 10 -2 Gy. The patient images taken with the new and the conventional systems showed that air-tissue interfaces were better defined in the new system image. Anatomical structures, visible on both films, are clearer with the new system. Additionally, bony structures, such as vertebrae, were clearly visible only with the new system. The system under evaluation was significantly better for all features in lateral images and most features in anterior images. Conclusions: This pilot study of the new portal imaging system showed the image quality is significantly improved

  17. Radioaerosol ventilation imaging in ventilator-dependent patients. Technical considerations

    International Nuclear Information System (INIS)

    Vezina, W.; Chamberlain, M.; Vinitski, S.; King, M.; Nicholson, R.; Morgan, W.K.

    1985-01-01

    The differentiation of pulmonary embolism (PE) from regional ventilatory abnormalities accompanied by reduced perfusion requires contemporary perfusion and ventilation studies. Distinguishing these conditions in ventilator-dependent patients is aided by administering a Tc-99m aerosol to characterize regional ventilation, and by performing a conventional Tc-99m MAA perfusion study. The technique uses a simple in-house constructed apparatus. Simple photographic techniques suffice, but computer subtraction of perfusion from the combined perfusion-ventilation image renders interpretation easier if aerosol administration follows perfusion imaging. Multiple defects can be examined in a single study. Excluding normal or near-normal perfusion studies, PE was thought to be present in eight of 16 patients after perfusion imaging alone, but in only one of eight after added aerosol imaging. Angiography confirmed the diagnosis in that patient. Of the eight patients who had abnormal perfusion but were thought unlikely to have PE from the perfusion study alone, two had normal ventilation, and subsequently were shown to have PE by angiography. Because angiography was only performed on patients who were thought to have a high probability of PE on sequential perfusion-ventilation imaging, the true incidence of PE may have been higher. Aerosol ventilation imaging is a useful adjunct to perfusion imaging in patients on ventilators. It requires an efficient delivery system, particularly if aerosol administration follows perfusion imaging, as it does in this study

  18. Myocardial perfusion SPECT imaging in patients with myocardial bridging

    International Nuclear Information System (INIS)

    Fang Wei; Qiu Hong; Yang Weixian; Wang Feng; He Zuoxiang

    2008-01-01

    Objective: Stress myocardial perfusion SPECT imaging was used to assess myocardial ischemia in patients with myocardial bridging. Methods: Ninety-six patients with myocardial bridging of the left anterior descending artery documented by coronary angiography were included in this study. All under- went exercise or pharmacological stress myocardial perfusion SPECT assessing myocardial ischemia. None had prior myocardial infarction. One year follow-up by telephone interview was performed in all patients. Results The mean stenotic severity of systolic phase on angiography was (65 ± 19)%. In the SPECT study, 20 of 96 (20.8%) patients showed abnormal perfusion. This percentage was significantly higher than that of stress electrocardiogram (ECG). The higher positive rate of SPECT perfusion images was showed in the group of patients with severe systolic narrowing (≥75%) than that with mild-to-moderate systolic narrowing (50% vs 6.3%, P<0.001). The prevalence of abnormal image was significantly higher in ELDERLY PEOPLE; patients with STT change on rest ECG than in those with normal rest ECG (54.2% vs 9.7%, P<0.001). During follow-up, one patient with abnormal SPECT perfusion image sustained angina and accepted percutaneous coronary intervention, and no cardiac event occurred in patients with normal images. Conclusions: Stress myocardial perfusion SPECT imaging can be used effectively for assessing myocardial ischemia and has potential prognostic value for patients with myocardial bridging. (authors)

  19. 201Tl myocardial imaging in patients with pulmonary hypertension

    International Nuclear Information System (INIS)

    Cohen, H.A.; Baird, M.G.; Rouleau, J.R.; Fuhrmann, C.F.; Bailey, I.K.; Summer, W.R.; Strauss, H.W.; Pitt, B.

    1976-01-01

    The appearance of the right ventricular myocardium on thallium 201 myocardial perfusion images was evaluated in patients with chronic pulmonary hypertension and compared to patients without pulmonary hypertension. Four groups of patients were studied: (1) eight normals, (2) five patients with angiographically documented coronary artery disease and normal pulmonary artery pressures, (3) ten patients with moderate to severe pulmonary parenchymal or vascular disease and documented pulmonary hypertension and (4) eight patients with chronic left ventricular dysfunction and pulmonary hypertension discovered during cardiac catheterization. The right ventricular free wall was visualized on the thallium 201 myocardial perfusion image in only one of eight normals (group 1) and in only one of the five patients with coronary artery disease (group 2) and measured 0.5 cm and 0.9 cm in thickness, respectively. In patients with documented pulmonary hypertension the right ventricle was visualized on low contrast thallium 201 myocardial perfusion image in all patients. The apparent right ventricular free wall thickness measured from the ungated thallium 201 myocardial perfusion images was 1.7 +- 0.3 cm in group 3 and 1.5 +- 0.2 cm in group 4. Right ventricular hypertrophy was detected by electrocardiography in only five of ten patients in group 3 and only one of eight patients in group 4. Thallium 201 myocardial perfusion imaging appears to be a useful technique for assessing the effects of chronic pulmonary hypertension on the right ventricular myocardium

  20. Imaging genetics and the neurobiological basis of individual differences in vulnerability to addiction.

    Science.gov (United States)

    Sweitzer, Maggie M; Donny, Eric C; Hariri, Ahmad R

    2012-06-01

    Addictive disorders are heritable, but the search for candidate functional polymorphisms playing an etiological role in addiction is hindered by complexity of the phenotype and the variety of factors interacting to impact behavior. Advances in human genome sequencing and neuroimaging technology provide an unprecedented opportunity to explore the impact of functional genetic variants on variability in behaviorally relevant neural circuitry. Here, we present a model for merging these technologies to trace the links between genes, brain, and addictive behavior. We describe imaging genetics and discuss the utility of its application to addiction. We then review data pertaining to impulsivity and reward circuitry as an example of how genetic variation may lead to variation in behavioral phenotype. Finally, we present preliminary data relating the neural basis of reward processing to individual differences in nicotine dependence. Complex human behaviors such as addiction can be traced to their basic genetic building blocks by identifying intermediate behavioral phenotypes, associated neural circuitry, and underlying molecular signaling pathways. Impulsivity has been linked with variation in reward-related activation in the ventral striatum (VS), altered dopamine signaling, and functional polymorphisms of DRD2 and DAT1 genes. In smokers, changes in reward-related VS activation induced by smoking abstinence may be associated with severity of nicotine dependence. Variation in genes related to dopamine signaling may contribute to heterogeneity in VS sensitivity to reward and, ultimately, to addiction. These findings illustrate the utility of the imaging genetics approach for investigating the neurobiological basis for vulnerability to addiction. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  1. Physics-Based Image Segmentation Using First Order Statistical Properties and Genetic Algorithm for Inductive Thermography Imaging.

    Science.gov (United States)

    Gao, Bin; Li, Xiaoqing; Woo, Wai Lok; Tian, Gui Yun

    2018-05-01

    Thermographic inspection has been widely applied to non-destructive testing and evaluation with the capabilities of rapid, contactless, and large surface area detection. Image segmentation is considered essential for identifying and sizing defects. To attain a high-level performance, specific physics-based models that describe defects generation and enable the precise extraction of target region are of crucial importance. In this paper, an effective genetic first-order statistical image segmentation algorithm is proposed for quantitative crack detection. The proposed method automatically extracts valuable spatial-temporal patterns from unsupervised feature extraction algorithm and avoids a range of issues associated with human intervention in laborious manual selection of specific thermal video frames for processing. An internal genetic functionality is built into the proposed algorithm to automatically control the segmentation threshold to render enhanced accuracy in sizing the cracks. Eddy current pulsed thermography will be implemented as a platform to demonstrate surface crack detection. Experimental tests and comparisons have been conducted to verify the efficacy of the proposed method. In addition, a global quantitative assessment index F-score has been adopted to objectively evaluate the performance of different segmentation algorithms.

  2. Bio-imaging and visualization for patient-customized simulations

    CERN Document Server

    Luo, Xiongbiao; Li, Shuo

    2014-01-01

    This book contains the full papers presented at the MICCAI 2013 workshop Bio-Imaging and Visualization for Patient-Customized Simulations (MWBIVPCS 2013). MWBIVPCS 2013 brought together researchers representing several fields, such as Biomechanics, Engineering, Medicine, Mathematics, Physics and Statistic. The contributions included in this book present and discuss new trends in those fields, using several methods and techniques, including the finite element method, similarity metrics, optimization processes, graphs, hidden Markov models, sensor calibration, fuzzy logic, data mining, cellular automation, active shape models, template matching and level sets. These serve as tools to address more efficiently different and timely applications involving signal and image acquisition, image processing and analysis, image segmentation, image registration and fusion, computer simulation, image based modelling, simulation and surgical planning, image guided robot assisted surgical and image based diagnosis.  This boo...

  3. Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease

    DEFF Research Database (Denmark)

    Hietala, M; Hakonen, A; Aro, A R

    1995-01-01

    evaluated attitudes toward gene tests in general and also respondents' preparedness to undergo gene tests for predictive testing, carrier detection, prenatal diagnosis, and selective abortion, in theoretical situations. The results of the study indicate that both the Finnish population in general and family...... members of AGU patients have a favorable attitude toward genetic testing. However, a commonly expressed reason against testing was that test results might lead to discrimination in employment or insurance policies. Based on the responses, we predict that future genetic testing programs will most probably...

  4. Imaging Voltage in Genetically Defined Neuronal Subpopulations with a Cre Recombinase-Targeted Hybrid Voltage Sensor.

    Science.gov (United States)

    Bayguinov, Peter O; Ma, Yihe; Gao, Yu; Zhao, Xinyu; Jackson, Meyer B

    2017-09-20

    Genetically encoded voltage indicators create an opportunity to monitor electrical activity in defined sets of neurons as they participate in the complex patterns of coordinated electrical activity that underlie nervous system function. Taking full advantage of genetically encoded voltage indicators requires a generalized strategy for targeting the probe to genetically defined populations of cells. To this end, we have generated a mouse line with an optimized hybrid voltage sensor (hVOS) probe within a locus designed for efficient Cre recombinase-dependent expression. Crossing this mouse with Cre drivers generated double transgenics expressing hVOS probe in GABAergic, parvalbumin, and calretinin interneurons, as well as hilar mossy cells, new adult-born neurons, and recently active neurons. In each case, imaging in brain slices from male or female animals revealed electrically evoked optical signals from multiple individual neurons in single trials. These imaging experiments revealed action potentials, dynamic aspects of dendritic integration, and trial-to-trial fluctuations in response latency. The rapid time response of hVOS imaging revealed action potentials with high temporal fidelity, and enabled accurate measurements of spike half-widths characteristic of each cell type. Simultaneous recording of rapid voltage changes in multiple neurons with a common genetic signature offers a powerful approach to the study of neural circuit function and the investigation of how neural networks encode, process, and store information. SIGNIFICANCE STATEMENT Genetically encoded voltage indicators hold great promise in the study of neural circuitry, but realizing their full potential depends on targeting the sensor to distinct cell types. Here we present a new mouse line that expresses a hybrid optical voltage sensor under the control of Cre recombinase. Crossing this line with Cre drivers generated double-transgenic mice, which express this sensor in targeted cell types. In

  5. MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Miller, L. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Angulo, M. [Dept. of Pediatrics, Div. of Endocrinology and Genetics, Winthrop University Hospital, Mineola, NY (United States); Price, D. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Taneja, S. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States)

    1996-01-01

    Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20%) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed. (orig.)

  6. Preliminary study of tumor heterogeneity in imaging predicts two year survival in pancreatic cancer patients.

    Directory of Open Access Journals (Sweden)

    Jayasree Chakraborty

    Full Text Available Pancreatic ductal adenocarcinoma (PDAC is one of the most lethal cancers in the United States with a five-year survival rate of 7.2% for all stages. Although surgical resection is the only curative treatment, currently we are unable to differentiate between resectable patients with occult metastatic disease from those with potentially curable disease. Identification of patients with poor prognosis via early classification would help in initial management including the use of neoadjuvant chemotherapy or radiation, or in the choice of postoperative adjuvant therapy. PDAC ranges in appearance from homogeneously isoattenuating masses to heterogeneously hypovascular tumors on CT images; hence, we hypothesize that heterogeneity reflects underlying differences at the histologic or genetic level and will therefore correlate with patient outcome. We quantify heterogeneity of PDAC with texture analysis to predict 2-year survival. Using fuzzy minimum-redundancy maximum-relevance feature selection and a naive Bayes classifier, the proposed features achieve an area under receiver operating characteristic curve (AUC of 0.90 and accuracy (Ac of 82.86% with the leave-one-image-out technique and an AUC of 0.80 and Ac of 75.0% with three-fold cross-validation. We conclude that texture analysis can be used to quantify heterogeneity in CT images to accurately predict 2-year survival in patients with pancreatic cancer. From these data, we infer differences in the biological evolution of pancreatic cancer subtypes measurable in imaging and identify opportunities for optimized patient selection for therapy.

  7. Preliminary study of tumor heterogeneity in imaging predicts two year survival in pancreatic cancer patients.

    Science.gov (United States)

    Chakraborty, Jayasree; Langdon-Embry, Liana; Cunanan, Kristen M; Escalon, Joanna G; Allen, Peter J; Lowery, Maeve A; O'Reilly, Eileen M; Gönen, Mithat; Do, Richard G; Simpson, Amber L

    2017-01-01

    Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers in the United States with a five-year survival rate of 7.2% for all stages. Although surgical resection is the only curative treatment, currently we are unable to differentiate between resectable patients with occult metastatic disease from those with potentially curable disease. Identification of patients with poor prognosis via early classification would help in initial management including the use of neoadjuvant chemotherapy or radiation, or in the choice of postoperative adjuvant therapy. PDAC ranges in appearance from homogeneously isoattenuating masses to heterogeneously hypovascular tumors on CT images; hence, we hypothesize that heterogeneity reflects underlying differences at the histologic or genetic level and will therefore correlate with patient outcome. We quantify heterogeneity of PDAC with texture analysis to predict 2-year survival. Using fuzzy minimum-redundancy maximum-relevance feature selection and a naive Bayes classifier, the proposed features achieve an area under receiver operating characteristic curve (AUC) of 0.90 and accuracy (Ac) of 82.86% with the leave-one-image-out technique and an AUC of 0.80 and Ac of 75.0% with three-fold cross-validation. We conclude that texture analysis can be used to quantify heterogeneity in CT images to accurately predict 2-year survival in patients with pancreatic cancer. From these data, we infer differences in the biological evolution of pancreatic cancer subtypes measurable in imaging and identify opportunities for optimized patient selection for therapy.

  8. Risk perception after genetic counseling in patients with increased risk of cancer

    Directory of Open Access Journals (Sweden)

    Rantala Johanna

    2009-08-01

    Full Text Available Abstract Background Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic view for their own personal risk and therefore adapt to the medical, psychological and familial implications of disease and to encourage the patient to make informed choices 12. The aim of this study was to conceptualize risk perception and anxiety about cancer in individuals attending to genetic counseling. Methods The questionnaire study measured risk perception and anxiety about cancer at three time points: before and one week after initial genetic counseling and one year after completed genetic investigations. Eligibility criteria were designed to include only index patients without a previous genetic consultation in the family. A total of 215 individuals were included. Data was collected during three years period. Results Before genetic counseling all of the unaffected participants subjectively estimated their risk as higher than their objective risk. Participants with a similar risk as the population overestimated their risk most. All risk groups estimated the risk for children's/siblings to be lower than their own. The benefits of preventive surveillance program were well understood among unaffected participants. The difference in subjective risk perception before and directly after genetic counseling was statistically significantly lower in all risk groups. Difference in risk perception for children as well as for population was also statistically significant. Experienced anxiety about developing cancer in the unaffected subjects was lower after genetic counseling compared to baseline in all groups. Anxiety about cancer had clear correlation to perceived risk of cancer before and one year after genetic investigations. The affected participants overestimated their children's risk as well as risk for anyone in

  9. Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.

    Science.gov (United States)

    Schwartz, Marc D; Peshkin, Beth N; Isaacs, Claudine; Willey, Shawna; Valdimarsdottir, Heiddis B; Nusbaum, Rachel; Hooker, Gillian; O'Neill, Suzanne; Jandorf, Lina; Kelly, Scott P; Heinzmann, Jessica; Zidell, Aliza; Khoury, Katia

    2018-04-02

    Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing. We recruited newly diagnosed breast cancer patients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions. RGCT led to higher overall (83.8% vs. 54.6%; p genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10). Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.

  10. Genetic Imaging of the Association of Oxytocin Receptor Gene (OXTR Polymorphisms with Positive Maternal Parenting

    Directory of Open Access Journals (Sweden)

    Kalina J. Michalska

    2014-02-01

    Full Text Available Background: Well-validated models of maternal behavior in small-brain mammals posit a central role of oxytocin in parenting, by reducing stress and enhancing the reward value of social interactions with offspring. In contrast, human studies are only beginning to gain insights into how oxytocin modulates maternal behavior and affiliation. Methods: To explore associations between oxytocin receptor genes and maternal parenting behavior in humans, we conducted a genetic imaging study of women selected to exhibit a wide range of observed parenting when their children were 4-6 years old. Results: In response to child stimuli during functional magnetic resonance imaging, hemodynamic responses in brain regions that mediate affect, reward, and social behavior were significantly correlated with observed positive parenting. Furthermore, single nucleotide polymorphisms (rs53576 and rs1042778 in the gene encoding the oxytocin receptor were significantly associated with both positive parenting and hemodynamic responses to child stimuli in orbitofrontal cortex, anterior cingulate cortex and hippocampus. Conclusions: These findings contribute to the emerging literature on the role of oxytocin in human social behavior and support the feasibility of tracing biological pathways from genes to neural regions to positive maternal parenting behaviors in humans using genetic imaging methods.

  11. Development of a Streamlined Work Flow for Handling Patients' Genetic Testing Insurance Authorizations.

    Science.gov (United States)

    Uhlmann, Wendy R; Schwalm, Katie; Raymond, Victoria M

    2017-08-01

    Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time-saving work flow changes were introduced including 1) creation of an Excel password-protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow-up 2) instituting the PSAs sending GCs a pre-clinic email noting each patients' genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.

  12. Bone marrow NMR imaging and scintigraphy in AIDS patients

    International Nuclear Information System (INIS)

    Theisen, P.; Waters, W.; Schicha, H.; Rasokat, H.; Steigleder, G.K.

    1988-01-01

    The examinations were carried out in order to ascertain whether bone marrow abnormalities can be detected in AIDS patients by means of magnetic resonance imaging or scintiscanning. In 16 of the 19 patients the NMR image and/or the scintiscan distinctly revealed bone marrow abnormalities, but there was no exact correlation to be found to immunological parameters, the peripheral blood picture, or the clinical stage of the HIV infection. (orig.) [de

  13. Body image and self-esteem in somatizing patients.

    Science.gov (United States)

    Sertoz, Ozen O; Doganavsargil, Ozge; Elbi, Hayriye

    2009-08-01

    The aim of the present study was to determine dissatisfaction with body appearance and bodily functions and to assess self-esteem in somatizing patients. Body image and self-esteem were investigated in 128 women; 34 of those had diagnosed somatoform disorders, 50 were breast cancer patients with total mastectomy surgery alone, and 44 were healthy subjects. Body image and self-esteem were assessed using the Body Cathexis Scale and Rosenberg Self-Esteem Scale. The two clinical groups did not differ from one another (z = -1.832, P = 0.067), but differed from healthy controls in terms of body image (somatizing patients vs healthy controls, z = -3.628, P self-esteem (z = -0.936, P = 0.349) when depressive symptoms were controlled. No statistically significant difference was observed between total mastectomy patients and healthy controls in terms of self-esteem (z = -1.727, P = 0.084). The lower levels of self-esteem in somatizing patients were largely mediated by depressive symptoms. Depressed and non-depressed somatizing patients differed significantly from healthy controls with respect to their self-esteem and body image. Somatizing patients who were dissatisfied with their bodily functions and appearance had lower levels of self-esteem and high comorbidity of depression. In clinical practice it is suggested that clinicians should take into account psychiatric comorbidity, self-esteem, and body image in somatizing patients when planning treatment approaches.

  14. LAND COVER CHANGE DETECTION BASED ON GENETICALLY FEATURE AELECTION AND IMAGE ALGEBRA USING HYPERION HYPERSPECTRAL IMAGERY

    Directory of Open Access Journals (Sweden)

    S. T. Seydi

    2015-12-01

    Full Text Available The Earth has always been under the influence of population growth and human activities. This process causes the changes in land use. Thus, for optimal management of the use of resources, it is necessary to be aware of these changes. Satellite remote sensing has several advantages for monitoring land use/cover resources, especially for large geographic areas. Change detection and attribution of cultivation area over time present additional challenges for correctly analyzing remote sensing imagery. In this regards, for better identifying change in multi temporal images we use hyperspectral images. Hyperspectral images due to high spectral resolution created special placed in many of field. Nevertheless, selecting suitable and adequate features/bands from this data is crucial for any analysis and especially for the change detection algorithms. This research aims to automatically feature selection for detect land use changes are introduced. In this study, the optimal band images using hyperspectral sensor using Hyperion hyperspectral images by using genetic algorithms and Ratio bands, we select the optimal band. In addition, the results reveal the superiority of the implemented method to extract change map with overall accuracy by a margin of nearly 79% using multi temporal hyperspectral imagery.

  15. TH-CD-207A-08: Simulated Real-Time Image Guidance for Lung SBRT Patients Using Scatter Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Redler, G; Cifter, G; Templeton, A; Lee, C; Bernard, D; Liao, Y; Zhen, H; Turian, J; Chu, J [Rush University Medical Center, Chicago, IL (United States)

    2016-06-15

    Purpose: To develop a comprehensive Monte Carlo-based model for the acquisition of scatter images of patient anatomy in real-time, during lung SBRT treatment. Methods: During SBRT treatment, images of patient anatomy can be acquired from scattered radiation. To rigorously examine the utility of scatter images for image guidance, a model is developed using MCNP code to simulate scatter images of phantoms and lung cancer patients. The model is validated by comparing experimental and simulated images of phantoms of different complexity. The differentiation between tissue types is investigated by imaging objects of known compositions (water, lung, and bone equivalent). A lung tumor phantom, simulating materials and geometry encountered during lung SBRT treatments, is used to investigate image noise properties for various quantities of delivered radiation (monitor units(MU)). Patient scatter images are simulated using the validated simulation model. 4DCT patient data is converted to an MCNP input geometry accounting for different tissue composition and densities. Lung tumor phantom images acquired with decreasing imaging time (decreasing MU) are used to model the expected noise amplitude in patient scatter images, producing realistic simulated patient scatter images with varying temporal resolution. Results: Image intensity in simulated and experimental scatter images of tissue equivalent objects (water, lung, bone) match within the uncertainty (∼3%). Lung tumor phantom images agree as well. Specifically, tumor-to-lung contrast matches within the uncertainty. The addition of random noise approximating quantum noise in experimental images to simulated patient images shows that scatter images of lung tumors can provide images in as fast as 0.5 seconds with CNR∼2.7. Conclusions: A scatter imaging simulation model is developed and validated using experimental phantom scatter images. Following validation, lung cancer patient scatter images are simulated. These simulated

  16. TH-CD-207A-08: Simulated Real-Time Image Guidance for Lung SBRT Patients Using Scatter Imaging

    International Nuclear Information System (INIS)

    Redler, G; Cifter, G; Templeton, A; Lee, C; Bernard, D; Liao, Y; Zhen, H; Turian, J; Chu, J

    2016-01-01

    Purpose: To develop a comprehensive Monte Carlo-based model for the acquisition of scatter images of patient anatomy in real-time, during lung SBRT treatment. Methods: During SBRT treatment, images of patient anatomy can be acquired from scattered radiation. To rigorously examine the utility of scatter images for image guidance, a model is developed using MCNP code to simulate scatter images of phantoms and lung cancer patients. The model is validated by comparing experimental and simulated images of phantoms of different complexity. The differentiation between tissue types is investigated by imaging objects of known compositions (water, lung, and bone equivalent). A lung tumor phantom, simulating materials and geometry encountered during lung SBRT treatments, is used to investigate image noise properties for various quantities of delivered radiation (monitor units(MU)). Patient scatter images are simulated using the validated simulation model. 4DCT patient data is converted to an MCNP input geometry accounting for different tissue composition and densities. Lung tumor phantom images acquired with decreasing imaging time (decreasing MU) are used to model the expected noise amplitude in patient scatter images, producing realistic simulated patient scatter images with varying temporal resolution. Results: Image intensity in simulated and experimental scatter images of tissue equivalent objects (water, lung, bone) match within the uncertainty (∼3%). Lung tumor phantom images agree as well. Specifically, tumor-to-lung contrast matches within the uncertainty. The addition of random noise approximating quantum noise in experimental images to simulated patient images shows that scatter images of lung tumors can provide images in as fast as 0.5 seconds with CNR∼2.7. Conclusions: A scatter imaging simulation model is developed and validated using experimental phantom scatter images. Following validation, lung cancer patient scatter images are simulated. These simulated

  17. Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

    Science.gov (United States)

    Bardakjian, Tanya M; Helbig, Ingo; Quinn, Colin; Elman, Lauren B; McCluskey, Leo F; Scherer, Steven S; Gonzalez-Alegre, Pedro

    2018-03-28

    To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.

  18. Direct-to-Consumer Genetic Testing: Helping Patients Make Informed Choices
.

    Science.gov (United States)

    Mahon, Suzanne M

    2018-02-01

    Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT.
.

  19. Genetic architecture and temporal patterns of biomass accumulation in spring barley revealed by image analysis.

    Science.gov (United States)

    Neumann, Kerstin; Zhao, Yusheng; Chu, Jianting; Keilwagen, Jens; Reif, Jochen C; Kilian, Benjamin; Graner, Andreas

    2017-08-10

    Genetic mapping of phenotypic traits generally focuses on a single time point, but biomass accumulates continuously during plant development. Resolution of the temporal dynamics that affect biomass recently became feasible using non-destructive imaging. With the aim to identify key genetic factors for vegetative biomass formation from the seedling stage to flowering, we explored growth over time in a diverse collection of two-rowed spring barley accessions. High heritabilities facilitated the temporal analysis of trait relationships and identification of quantitative trait loci (QTL). Biomass QTL tended to persist only a short period during early growth. More persistent QTL were detected around the booting stage. We identified seven major biomass QTL, which together explain 55% of the genetic variance at the seedling stage, and 43% at the booting stage. Three biomass QTL co-located with genes or QTL involved in phenology. The most important locus for biomass was independent from phenology and is located on chromosome 7HL at 141 cM. This locus explained ~20% of the genetic variance, was significant over a long period of time and co-located with HvDIM, a gene involved in brassinosteroid synthesis. Biomass is a dynamic trait and is therefore orchestrated by different QTL during early and late growth stages. Marker-assisted selection for high biomass at booting stage is most effective by also including favorable alleles from seedling biomass QTL. Selection for dynamic QTL may enhance genetic gain for complex traits such as biomass or, in the future, even grain yield.

  20. Framework for Interpretation of Genetic Variations in Pancreatitis Patients

    Directory of Open Access Journals (Sweden)

    David eWhitcomb

    2012-12-01

    Full Text Available Chronic pancreatitis (CP is defined by irreversible damage to the pancreas as a result of inflammation-driven pancreatic tissue destruction and fibrosis occurring over many years. The disorder is complex, with multiple etiologies leading to the same tissue pathology, and unpredictable clinical courses with variable pain, exocrine and endocrine organ dysfunction and cancer. Underlying genetic variants are central CP susceptibility and progression. Three genes, with Mendelian genetic biology (PRSS1, CFTR, SPINK1 have been recognized for over a decade, and little progress has been made since then.. Furthermore, application of high-throughput genetic techniques, including genome-wide association studies (GWAS and next generation sequencing (NGS will provide a large volume of new genetic variants that are associated with CP, but with small independent effect that are impossible to apply in the clinic. The problem of interpretation is using the old framework of the germ theory of disease to understand complex genetic disorders. To understand these variants and translate them into clinically useful information requires a new framework based on modeling and simulation of physiological processes with or without genetic, metabolic and environmental variables considered at the cellular and organ levels, with integration of the immune system, nervous system, tissue injury and repair system and DNA repair system. The North American Pancreatitis Study II (NAPS2 study was designed to capture this type of date and construct a time line to understand and later predict rates of disease progression from the initial symptom to end-stage disease. This effort is needed to target the etiology of pancreatic dysfunction beginning at the first signs of disease and thereby prevent the development of irreversible damage and the complications of CP. The need for a new framework and the rational for implementing it into clinical practice are described.

  1. Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators

    NARCIS (Netherlands)

    Ooteman, Wendy; Naassila, Mickaël; Koeter, Maarten W. J.; Verheul, Roel; Schippers, Gerard M.; Houchi, Hakim; Daoust, Martine; van den Brink, Wim

    2009-01-01

    Acamprosate and naltrexone are effective medications in the treatment of alcoholism. However. effect sizes are modest. Pharmacogenomics may improve patient-treatment-matching and effect sizes. It is hypothesized that naltrexone exerts its effect through genetic characteristics associated with the

  2. Genetic mental services for retardation. patIents with seve.re

    African Journals Online (AJOL)

    1982-01-04

    Jan 4, 1982 ... Care of Mentally Deficient Persons in the RSA (1967) dermed persons with mental .... hensive genetic service for patients with mental retardation and ..... servIces. There are numerous homes and institutions for the mentally.

  3. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

    Directory of Open Access Journals (Sweden)

    Chiara Baldo

    2016-10-01

    Full Text Available Abstract Background Rare diseases (RDs are often neglected because they affect a small percentage of the population (6–8 %, which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. Results The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. Conclusions The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness

  4. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

    Science.gov (United States)

    Baldo, Chiara; Casareto, Lorena; Renieri, Alessandra; Merla, Giuseppe; Garavaglia, Barbara; Goldwurm, Stefano; Pegoraro, Elena; Moggio, Maurizio; Mora, Marina; Politano, Luisa; Sangiorgi, Luca; Mazzotti, Raffaella; Viotti, Valeria; Meloni, Ilaria; Pellico, Maria Teresa; Barzaghi, Chiara; Wang, Chiuhui Mary; Monaco, Lucia; Filocamo, Mirella

    2016-10-24

    Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to

  5. Diagnostic imaging of lymphomas in pediatric patients

    International Nuclear Information System (INIS)

    Petrova, A.

    2010-01-01

    Lymphoma is the third most common malignancy in children, after leukemias and brain tumors, most commonly during early childhood before 14 years. In definite stages cancer can engage all organs and systems. These conditions associate with immunodeficiency, increased susceptibility to infections and second neoplasms. The social importance of the problem requires early diagnosis, accurate staging, and assessment of the treatment and determination of the risk for relapse of the disease. The aim of the present review is to represent the role of the modern methods of diagnostic imaging - ultrasonography (US), Computed Tomography (CT), Magnetic Resonance Imaging (MRI) and Positron Emisson Tomography (PET) scan in the process of diagnostics, in the decision of therapeutic strategy and the follow-up of children with lymphomas

  6. MR imaging of the knee in patients with rheumatic diseases

    International Nuclear Information System (INIS)

    Weissman, B.N.; Winalski, C.S.; Aliabadi, P.; Kikinis, R.; Shortkroff, S.; Sledge, C.B.

    1990-01-01

    This paper evaluates the MR appearances of the knees in patients with rheumatic diseases, including the grading of changes, quantification of changes, and the role of intravenous gadolinium. MR imaging of the knee was performed in 19 patients with arthritis, including rheumatoid arthritis (n = 11), juvenile rheumatoid arthritis (n = 2), Reiter syndrome (n = 2), Crohn arthritis (n = 1), and psoriatic arthritis (n = 3). Spin-echo images (T1, T2, and proton density weighted) were obtained in sagittal, coronal, and axial planes. T1-weighted axial images were obtained before and after intravenous injection of Gd-DTPA

  7. Sending family history questionnaires to patients before a colonoscopy improves genetic counseling for hereditary colorectal cancer.

    Science.gov (United States)

    Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G; Offerhaus, G Johan A; Siersema, Peter D; Moons, Leon M G

    2017-06-01

    To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist. A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire. Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling. © 2017 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  8. [The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea].

    Science.gov (United States)

    Afanas'eva, N A; Bychkova, A M; Livshits, L A; Bariliak, I R

    1998-01-01

    The clinical and genetical characteristics of patients with phenylketonuria in the Crimean population is done in the present work. The comparison of clinical peculiarities of 28 patients, revealed by means of neonatal screening and that of 24 patients, the treatment of which was started late is presented. The prenatal diagnostics of 4 families with high phenylketonuria risk is conducted.

  9. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  10. Genetic Modeling of Radiation Injury in Prostate Cancer Patients Treated with Radiotherapy

    Science.gov (United States)

    2017-10-01

    AWARD NUMBER: W81XWH-15-1-0681 TITLE: Genetic Modeling of Radiation Injury in Prostate Cancer Patients Treated with Radiotherapy PRINCIPAL...TITLE AND SUBTITLE 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-15-1-0681Genetic Modeling of Radiation Injury in Prostate Cancer Patients Treated...effects, urinary morbidity, rectal injury, sexual dysfunction 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT 18. NUMBER OF PAGES 19a. NAME OF

  11. Snake Model Based on Improved Genetic Algorithm in Fingerprint Image Segmentation

    Directory of Open Access Journals (Sweden)

    Mingying Zhang

    2016-12-01

    Full Text Available Automatic fingerprint identification technology is a quite mature research field in biometric identification technology. As the preprocessing step in fingerprint identification, fingerprint segmentation can improve the accuracy of fingerprint feature extraction, and also reduce the time of fingerprint preprocessing, which has a great significance in improving the performance of the whole system. Based on the analysis of the commonly used methods of fingerprint segmentation, the existing segmentation algorithm is improved in this paper. The snake model is used to segment the fingerprint image. Additionally, it is improved by using the global optimization of the improved genetic algorithm. Experimental results show that the algorithm has obvious advantages both in the speed of image segmentation and in the segmentation effect.

  12. Genetic Algorithm Phase Retrieval for the Systematic Image-Based Optical Alignment Testbed

    Science.gov (United States)

    Taylor, Jaime; Rakoczy, John; Steincamp, James

    2003-01-01

    Phase retrieval requires calculation of the real-valued phase of the pupil fimction from the image intensity distribution and characteristics of an optical system. Genetic 'algorithms were used to solve two one-dimensional phase retrieval problem. A GA successfully estimated the coefficients of a polynomial expansion of the phase when the number of coefficients was correctly specified. A GA also successfully estimated the multiple p h e s of a segmented optical system analogous to the seven-mirror Systematic Image-Based Optical Alignment (SIBOA) testbed located at NASA s Marshall Space Flight Center. The SIBOA testbed was developed to investigate phase retrieval techniques. Tiphilt and piston motions of the mirrors accomplish phase corrections. A constant phase over each mirror can be achieved by an independent tip/tilt correction: the phase Conection term can then be factored out of the Discrete Fourier Tranform (DFT), greatly reducing computations.

  13. PET imaging in patients with Modic changes

    DEFF Research Database (Denmark)

    Albert, Hanne; Pedersen, Henrik; Manniche, Claus

    2009-01-01

    associated with low back pain (LBP). MC type 1 appear to be inflammation on MRI, and histological and biochemical findings make it highly likely that an inflammation is present. Though MC is painful no known treatment is available, and it is unknown which entities affect the progress or regress of MC....... The changes observed on MRI are slow and take months to develop, but faster changes in the metabolism might provide a platform for monitoring patients. PATIENTS, METHODS: Patients from The Back Centre Funen, with low back pain in the area of L1 to S1, MC type 1 in L1 to L5, and a previous herniated lumbar...... disc. All patients had a PET scan using FDG (18F-fluorodeoxyglucose) as tracer. RESULTS: Included in the study were 11 patients, 4 women and 7 men, mean age 48.1 year (range 20-65). All MC were situated in the vertebrae both above and below the previously herniated disc/discs. Ten patients had MC at 1...

  14. Quality Control in Mammography: Image Quality and Patient Doses

    International Nuclear Information System (INIS)

    Ciraj Bjelac, O.; Arandjic, D.; Boris Loncar, B.; Kosutic, D.

    2008-01-01

    Mammography is method of choice for early detection of breast cancer. The purpose of this paper is preliminary evaluation the mammography practice in Serbia, in terms of both quality control indicators, i.e. image quality and patient doses. The survey demonstrated considerable variations in technical parameters that affect image quality and patients doses. Mean glandular doses ranged from 0.12 to 2.8 mGy, while reference optical density ranged from 1.2 to 2.8. Correlation between image contrast and mean glandular doses was demonstrated. Systematic implementation of quality control protocol should provide satisfactory performance of mammography units and maintain satisfactory image quality and keep patient doses as low as reasonably practicable. (author)

  15. Structured diagnostic imaging in patients with multiple trauma

    International Nuclear Information System (INIS)

    Linsenmaier, U.; Rieger, J.; Rock, C.; Pfeifer, K.J.; Reiser, M.; Kanz, K.G.

    2002-01-01

    Purpose. Development of a concept for structured diagnostic imaging in patients with multiple trauma.Material and methods. Evaluation of data from a prospective trial with over 2400 documented patients with multiple trauma. All diagnostic and therapeutic steps, primary and secondary death and the 90 days lethality were documented.Structured diagnostic imaging of multiple injured patients requires the integration of an experienced radiologist in an interdisciplinary trauma team consisting of anesthesia, radiology and trauma surgery. Radiology itself deserves standardized concepts for equipment, personnel and logistics to perform diagnostic imaging for a 24-h-coverage with constant quality.Results. This paper describes criteria for initiation of a shock room or emergency room treatment, strategies for documentation and interdisciplinary algorithms for the early clinical care coordinating diagnostic imaging and therapeutic procedures following standardized guidelines. Diagnostic imaging consists of basic diagnosis, radiological ABC-rule, radiological follow-up and structured organ diagnosis using CT. Radiological trauma scoring allows improved quality control of diagnosis and therapy of multiple injured patients.Conclusion. Structured diagnostic imaging of multiple injured patients leads to a standardization of diagnosis and therapy and ensures constant process quality. (orig.) [de

  16. Combinations of Genetic Variants Occurring Exclusively in Patients

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five ...

  17. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

    Science.gov (United States)

    Galvez-Ruiz, Alberto; Galindo-Ferreiro, Alicia; Schatz, Patrik

    2018-04-01

    In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

  18. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  19. Body image concerns amongst massive weight loss patients.

    Science.gov (United States)

    Gilmartin, Jo

    2013-05-01

    To explore body image matters amongst patients following massive weight loss. In contemporary health care, a growing number of morbidly obese patients are seeking surgical solutions such as bariatric surgery or in other cases engaging with radical lifestyle changes. Massive weight loss can leave patients with a huge excess of lax overstretched skin that in some cases can trigger major body image dissatisfaction or depression. There is a scarcity of research about the needs of this group of patients and this is important for nursing practice. A qualitative design using in-depth interviews was employed. Twenty white adults (18 women and two men) were recruited retrospectively amongst patients who had massive weight loss by undergoing bariatric surgery or radical lifestyle changes, aged 29-63 years. All of the participants gave signed informed consent. Face-to-face in-depth interviews were conducted and transcribed verbatim. The data were analysed using thematic analysis. One core theme focusing on body image ugliness and three associated subthemes were identified: the subthemes included feeling socially marginalised, feeling depressed and sexual and intimacy difficulties. Body image matters are hugely significant and appear to have a lasting effect on emotional well-being and function, contributing to psychological distress and social isolation. Greater sensitivity is required in enabling patients to work through emotional isolation and shame that has been a part of their childhood. Furthermore more, treatments need to be accessible to this growing patient population such as reconstructive surgery. Nurses who care for massive weight loss patients need to be mindful of their psychodynamic needs and be non-judgemental and accepting. Moreover, nurses need to be aware of treatment options and be able to assess body image matters and implement quality care for this particular patient group including body image acceptance programmes and support groups. © 2013 Blackwell

  20. Neurocognitive functioning in parents of schizophrenia patients: Attentional and executive performance vary with genetic loading.

    Science.gov (United States)

    Schulze-Rauschenbach, Svenja; Lennertz, Leonhard; Ruhrmann, Stephan; Petrovsky, Nadine; Ettinger, Ulrich; Pukrop, Ralf; Dreher, Jan; Klosterkötter, Joachim; Maier, Wolfgang; Wagner, Michael

    2015-12-30

    Neuropsychological deficits are candidate endophenotypes of schizophrenia which can assist to explain the neurocognitive impact of genetic risk variants. The identification of endophenotypes is often based on the familiality of these phenotypes. Several studies demonstrate neuropsychological deficits in unaffected biological relatives of schizophrenia patients without differentiating between genetic and non-genetic factors underlying these deficits. We assessed N=129 unaffected biological parents of schizophrenia patients, N=28 schizophrenia patients (paranoid subtype), and N=143 controls without a family history of schizophrenia with an extensive neuropsychological test battery. Direct comparison of N=22 parents with an ancestral history of schizophrenia (more likely carriers, MLC) and N=17 of their spouses without such a history (less likely carriers, LLC) allowed the separation of genetic and non-genetic aspects in cognition. Overall, parents showed significant deficits in neuropsychological tasks from all cognitive domains with medium effect sizes. Direct comparisons of MLC- and LLC-parents showed that attentional and executive tasks were most strongly affected by genetic loading. To conclude, unaffected parents of schizophrenia patients showed modest yet significant impairments in attention, memory, and executive functioning. In particular, attentional and executive impairments varied most strongly with genetic loading for schizophrenia, prioritising these dysfunctions for genotype-endophenotype analyses. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  1. Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia.

    Science.gov (United States)

    Rahman, M Z; Nishat, L; Yesmin, Z A; Banu, L A

    2018-01-01

    With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML) is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.

  2. Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    M. Z. Rahman

    2018-01-01

    Full Text Available With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.

  3. Skeletal coccidioidomycosis: imaging findings in 19 patients

    International Nuclear Information System (INIS)

    Zeppa, M.A.; Greenspan, A.; McGahan, J.P.; Laorr, A.; Steinbach, L.S.

    1996-01-01

    The objective of this study was to describe the distribution and radiologic appearance of skeletal coccidioidomycosis in 19 documented cases. Medical records of 19 patients with clinically confirmed skeletal occidioidomycosis were retrospectively reviewed. The patients were studied with plain radiography, skeletal scintigraphy and MRI. Multiple lesions were seen in 11 of 19 patients (58%). Of a total of 46 lesions, 27 (59%) were described as punched-out lytic, 10 (22%) as permeative/destructive, and 9 (17%) as involving a joint and/or disk space. Lesions were identified in almost every bone (with the exception of the facial bones, ulna, carpus, and fibula) and were most commonly found in the axial skeleton (20 of 46; 43%). Plain radiographs are effective in the initial evaluation of bones and joints, scintigraphic studies can identify disseminated disease, and CT and MRI are effective in determining soft tissue involvement and spinal abnormalities. (orig./MG)

  4. Improving Brain Magnetic Resonance Image (MRI Segmentation via a Novel Algorithm based on Genetic and Regional Growth

    Directory of Open Access Journals (Sweden)

    Javadpour A.

    2016-06-01

    Full Text Available Background: Regarding the importance of right diagnosis in medical applications, various methods have been exploited for processing medical images solar. The method of segmentation is used to analyze anal to miscall structures in medical imaging. Objective: This study describes a new method for brain Magnetic Resonance Image (MRI segmentation via a novel algorithm based on genetic and regional growth. Methods: Among medical imaging methods, brains MRI segmentation is important due to high contrast of non-intrusive soft tissue and high spatial resolution. Size variations of brain tissues are often accompanied by various diseases such as Alzheimer’s disease. As our knowledge about the relation between various brain diseases and deviation of brain anatomy increases, MRI segmentation is exploited as the first step in early diagnosis. In this paper, regional growth method and auto-mate selection of initial points by genetic algorithm is used to introduce a new method for MRI segmentation. Primary pixels and similarity criterion are automatically by genetic algorithms to maximize the accuracy and validity in image segmentation. Results: By using genetic algorithms and defining the fixed function of image segmentation, the initial points for the algorithm were found. The proposed algorithms are applied to the images and results are manually selected by regional growth in which the initial points were compared. The results showed that the proposed algorithm could reduce segmentation error effectively. Conclusion: The study concluded that the proposed algorithm could reduce segmentation error effectively and help us to diagnose brain diseases.

  5. Fast two-photon imaging of subcellular voltage dynamics in neuronal tissue with genetically encoded indicators.

    Science.gov (United States)

    Chamberland, Simon; Yang, Helen H; Pan, Michael M; Evans, Stephen W; Guan, Sihui; Chavarha, Mariya; Yang, Ying; Salesse, Charleen; Wu, Haodi; Wu, Joseph C; Clandinin, Thomas R; Toth, Katalin; Lin, Michael Z; St-Pierre, François

    2017-07-27

    Monitoring voltage dynamics in defined neurons deep in the brain is critical for unraveling the function of neuronal circuits but is challenging due to the limited performance of existing tools. In particular, while genetically encoded voltage indicators have shown promise for optical detection of voltage transients, many indicators exhibit low sensitivity when imaged under two-photon illumination. Previous studies thus fell short of visualizing voltage dynamics in individual neurons in single trials. Here, we report ASAP2s, a novel voltage indicator with improved sensitivity. By imaging ASAP2s using random-access multi-photon microscopy, we demonstrate robust single-trial detection of action potentials in organotypic slice cultures. We also show that ASAP2s enables two-photon imaging of graded potentials in organotypic slice cultures and in Drosophila . These results demonstrate that the combination of ASAP2s and fast two-photon imaging methods enables detection of neural electrical activity with subcellular spatial resolution and millisecond-timescale precision.

  6. Super resolution imaging of genetically labelled synapses in Drosophila brain tissue

    Directory of Open Access Journals (Sweden)

    Isabelle Ayumi Spühler

    2016-05-01

    Full Text Available Understanding synaptic connectivity and plasticity within brain circuits and their relationship to learning and behavior is a fundamental quest in neuroscience. Visualizing the fine details of synapses using optical microscopy remains however a major technical challenge. Super resolution microscopy opens the possibility to reveal molecular features of synapses beyond the diffraction limit. With direct stochastic optical reconstruction microscopy, dSTORM, we image synaptic proteins in the brain tissue of the fruit fly, Drosophila melanogaster. Super resolution imaging of brain tissue harbors difficulties due to light scattering and the density of signals. In order to reduce out of focus signal, we take advantage of the genetic tools available in the Drosophila and have fluorescently tagged synaptic proteins expressed in only a small number of neurons. These neurons form synapses within the calyx of the mushroom body, a distinct brain region involved in associative memory formation. Our results show that super resolution microscopy, in combination with genetically labelled synaptic proteins, is a powerful tool to investigate synapses in a quantitative fashion providing an entry point for studies on synaptic plasticity during learning and memory formation

  7. Super Resolution Imaging of Genetically Labeled Synapses in Drosophila Brain Tissue.

    Science.gov (United States)

    Spühler, Isabelle A; Conley, Gaurasundar M; Scheffold, Frank; Sprecher, Simon G

    2016-01-01

    Understanding synaptic connectivity and plasticity within brain circuits and their relationship to learning and behavior is a fundamental quest in neuroscience. Visualizing the fine details of synapses using optical microscopy remains however a major technical challenge. Super resolution microscopy opens the possibility to reveal molecular features of synapses beyond the diffraction limit. With direct stochastic optical reconstruction microscopy, dSTORM, we image synaptic proteins in the brain tissue of the fruit fly, Drosophila melanogaster. Super resolution imaging of brain tissue harbors difficulties due to light scattering and the density of signals. In order to reduce out of focus signal, we take advantage of the genetic tools available in the Drosophila and have fluorescently tagged synaptic proteins expressed in only a small number of neurons. These neurons form synapses within the calyx of the mushroom body, a distinct brain region involved in associative memory formation. Our results show that super resolution microscopy, in combination with genetically labeled synaptic proteins, is a powerful tool to investigate synapses in a quantitative fashion providing an entry point for studies on synaptic plasticity during learning and memory formation.

  8. Structured sparse canonical correlation analysis for brain imaging genetics: an improved GraphNet method.

    Science.gov (United States)

    Du, Lei; Huang, Heng; Yan, Jingwen; Kim, Sungeun; Risacher, Shannon L; Inlow, Mark; Moore, Jason H; Saykin, Andrew J; Shen, Li

    2016-05-15

    Structured sparse canonical correlation analysis (SCCA) models have been used to identify imaging genetic associations. These models either use group lasso or graph-guided fused lasso to conduct feature selection and feature grouping simultaneously. The group lasso based methods require prior knowledge to define the groups, which limits the capability when prior knowledge is incomplete or unavailable. The graph-guided methods overcome this drawback by using the sample correlation to define the constraint. However, they are sensitive to the sign of the sample correlation, which could introduce undesirable bias if the sign is wrongly estimated. We introduce a novel SCCA model with a new penalty, and develop an efficient optimization algorithm. Our method has a strong upper bound for the grouping effect for both positively and negatively correlated features. We show that our method performs better than or equally to three competing SCCA models on both synthetic and real data. In particular, our method identifies stronger canonical correlations and better canonical loading patterns, showing its promise for revealing interesting imaging genetic associations. The Matlab code and sample data are freely available at http://www.iu.edu/∼shenlab/tools/angscca/ shenli@iu.edu Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  9. When the topic is you: genetic counselor responses to prenatal patients' requests for self-disclosure.

    Science.gov (United States)

    Balcom, Jessica R; Veach, Patricia McCarthy; Bemmels, Heather; Redlinger-Grosse, Krista; LeRoy, Bonnie S

    2013-06-01

    A limited amount of research indicates patient requests play a major role in genetic counselors' self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors' experiences of prenatal patients' requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

  10. Appearance and characterization of fruit image textures for quality sorting using wavelet transform and genetic algorithms.

    Science.gov (United States)

    Khoje, Suchitra

    2018-02-01

    Images of four qualities of mangoes and guavas are evaluated for color and textural features to characterize and classify them, and to model the fruit appearance grading. The paper discusses three approaches to identify most discriminating texture features of both the fruits. In the first approach, fruit's color and texture features are selected using Mahalanobis distance. A total of 20 color features and 40 textural features are extracted for analysis. Using Mahalanobis distance and feature intercorrelation analyses, one best color feature (mean of a* [L*a*b* color space]) and two textural features (energy a*, contrast of H*) are selected as features for Guava while two best color features (R std, H std) and one textural features (energy b*) are selected as features for mangoes with the highest discriminate power. The second approach studies some common wavelet families for searching the best classification model for fruit quality grading. The wavelet features extracted from five basic mother wavelets (db, bior, rbior, Coif, Sym) are explored to characterize fruits texture appearance. In third approach, genetic algorithm is used to select only those color and wavelet texture features that are relevant to the separation of the class, from a large universe of features. The study shows that image color and texture features which were identified using a genetic algorithm can distinguish between various qualities classes of fruits. The experimental results showed that support vector machine classifier is elected for Guava grading with an accuracy of 97.61% and artificial neural network is elected from Mango grading with an accuracy of 95.65%. The proposed method is nondestructive fruit quality assessment method. The experimental results has proven that Genetic algorithm along with wavelet textures feature has potential to discriminate fruit quality. Finally, it can be concluded that discussed method is an accurate, reliable, and objective tool to determine fruit

  11. Pulmonary fungal infection: Imaging findings in immunocompetent and immunocompromised patients

    International Nuclear Information System (INIS)

    Chong, Semin; Lee, Kyung Soo; Yi, Chin A; Chung, Myung Jin; Kim, Tae Sung; Han, Joungho

    2006-01-01

    Histoplasmosis is the most common endemic mycosis in North America, and is followed by coccidioidomycosis and blastomycosis. Although the majority of these infections in immunocompetent persons are self-limited, some patients can develop severe pneumonitis or various forms of chronic pulmonary infection. Cryptococcoci, Aspergillus, Candidas, and Mucorals are ubiquitous organisms, which may affect immunocompromised patients. Specific imaging findings can be expected, depending on the organisms involved, underlying patients' conditions (immune status), and specific situations after immune depleting procedures

  12. "Am I carrier?" The patient's lived experience of thrombophilia genetic screening and its outcome.

    Science.gov (United States)

    Graffigna, Guendalina; Leone, Daniela; Vegni, Elena

    2014-01-01

    How do patients with thrombophilia experience a physician's request to undergo a genetic test? How do they experience the test outcome? To answer these questions, we conducted an interpretative phenomenological analysis study, based on 10 in-depth interviews with patients who underwent genetic testing for thrombophilia in Italy, half with positive and half with negative results. The experience of undergoing genetic screening for thrombophilia plays an important role in reconfiguring patients' signification of their illness experience. A positive outcome becomes a cue to reorganize in a more adaptive way the illness meaning at the cognitive and emotive levels, whereas a negative outcome appears more distressing and confusing. As a clinical implication of the study, clinicians should consider communicating carefully with the patients regardless from the positive/negative test results and they should explore the patient's specific reaction and understanding of test result.

  13. Genetic Alterations in Hungarian Patients with Papillary Thyroid Cancer.

    Science.gov (United States)

    Tobiás, Bálint; Halászlaki, Csaba; Balla, Bernadett; Kósa, János P; Árvai, Kristóf; Horváth, Péter; Takács, István; Nagy, Zsolt; Horváth, Evelin; Horányi, János; Járay, Balázs; Székely, Eszter; Székely, Tamás; Győri, Gabriella; Putz, Zsuzsanna; Dank, Magdolna; Valkusz, Zsuzsanna; Vasas, Béla; Iványi, Béla; Lakatos, Péter

    2016-01-01

    The incidence of thyroid cancers is increasing worldwide. Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer. In our study, we analyzed these genetic alterations in 394 thyroid tissue samples (197 papillary carcinomas and 197 healthy). The somatic mutations and translocations were detected by Light Cycler melting method and Real-Time Polymerase Chain Reaction techniques, respectively. In tumorous samples, 86 BRAF (44.2%), 5 NRAS (3.1%), 2 HRAS (1.0%) and 1 KRAS (0.5%) mutations were found, as well as 9 RET/PTC1 (4.6%) and 1 RET/PTC3 (0.5%) translocations. No genetic alteration was seen in the non tumorous control thyroid tissues. No correlation was detected between the genetic variants and the pathological subtypes of papillary cancer as well as the severity of the disease. Our results are only partly concordant with the data found in the literature.

  14. Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients

    Energy Technology Data Exchange (ETDEWEB)

    Dubois, J. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Garel, L. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Patriquin, H. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Paradis, K. [Department of Pediatrics, Gastroenterology, Universite de Montreal, Que. (Canada); Forget, S. [Department of Pediatrics, Gastroenterology, Universite de Montreal, Que. (Canada); Filiatrault, D. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Grignon, A. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Russo, P. [Department of Pathology, Hopital Sainte-Justine, Montreal, Que. (Canada); St-Vil, D. [Department of Surgery, Hopital Sainte-Justine, Montreal, Que. (Canada)

    1996-12-01

    Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver trans- plantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging fea- tures of tyrosinemia in 30 patients followed from 1980 to 1995 at Hopital Sainte-Justine, Montreal, Canada. (orig.). With 10 figs., 2 tabs.

  15. Metabolic imaging of patients with cardiomyopathy

    International Nuclear Information System (INIS)

    Geltman, E.M.

    1991-01-01

    The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies

  16. Genetic predisposition toward suicidal ideation in patients with acute coronary syndrome.

    Science.gov (United States)

    Kang, Hee-Ju; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min

    2017-11-07

    The genetic predisposition toward suicidal ideation has been explored to identify subgroups at high risk and to prevent suicide. Acute coronary syndrome (ACS) is associated with an increased risk of suicide, but few studies have explored the genetic predisposition toward suicide in ACS populations. Therefore, this longitudinal study explored the genetic predisposition toward suicidal ideation in ACS patients. In total, of 969 patients within 2 weeks after ACS, 711 were followed at 1 year after ACS. Suicidal ideation was evaluated with the relevant items on the Montgomery-Åsberg Depression Rating Scale. Ten genetic polymorphisms associated with serotonergic systems, neurotrophic factors, carbon metabolism, and inflammatory cytokines were examined. Associations between genetic polymorphisms and suicidal ideation within 2 weeks and 1 year of ACS were investigated using logistic regression models. The 5-HTTLPR s allele was significantly associated with suicidal ideation within 2 weeks of ACS after adjusting for covariates and after the Bonferroni correction. TNF-α -308 G/A , IL-1β -511 C/T , and IL-1β + 3953C/T were significantly associated with suicidal ideation within 2 weeks after ACS, but these associations did not reach significance after the Bonferroni correction in unadjusted analyses and after adjusting for covariance. However, no significant association between genetic polymorphisms and suicidal ideation was found at 1 year. Genetic predisposition, 5-HTTLPR s allele in particular, may confer susceptibility to suicidal ideation in ACS patients during the acute phase of ACS.

  17. Magnetic resonance imaging in evaluating workers' compensation patients.

    Science.gov (United States)

    Babbel, Daniel; Rayan, Ghazi

    2012-04-01

    We studied the utility of magnetic resonance imaging (MRI) studies for workers' compensation patients with hand conditions in which the referring doctor obtained the images. We compared the MRI findings with the eventual clinical findings. We also investigated the approximate cost of these MRI studies. We retrospectively reviewed the charts of all workers' compensation patients seen in a hand and upper extremity practice over the course of 3 years. We selected patients who had MRI studies of the affected upper extremities before referral to the senior author (G.R.). We reviewed the charts for information regarding demographics, referral diagnoses, MRI diagnoses made by the radiologist, the area of the upper extremity studied, and eventual clinical diagnoses by the senior author. We made a determination as to whether a hand surgeon could have adequately diagnosed and treated the patients' conditions without the imaging studies. We also investigated the cost associated with these MRIs. We included 62 patients with a total of 67 MRI scans in this study. The MRI studies did not contribute to clinically diagnosing the patients' conditions in any of the cases we reviewed. The hand surgeon's clinical diagnosis disagreed with the radiologist's MRI diagnosis in 63% of patients. The MRI was unnecessary to arrive at the clinical diagnosis and did not influence the treatment offered for any of the 62 patients. The total cost for the 67 non-contrast MRI studies was approximately $53,000. Costly imaging studies are frequently done to determine the validity of a patient's reported problems; unfortunately, these tests are frequently unnecessary and waste resources. Magnetic resonance imaging scans may not be the standard for accurate diagnosis and can misdirect care. Therapeutic III. Copyright © 2012 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  18. Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.

    Science.gov (United States)

    Stratton, Kelly L; Alanee, Shaheen; Glogowski, Emily A; Schrader, Kasmintan A; Rau-Murthy, Rohini; Klein, Robert; Russo, Paul; Coleman, Jonathan; Offit, Kenneth

    2016-05-01

    To analyze patients with kidney cancer referred for evaluation at a high-volume genetics service at a comprehensive cancer center and identify factors associated with positive tests for hereditary cancer syndromes. A retrospective review of patients referred to the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center was performed, and patients with a personal history of kidney cancer were identified. Patient and disease characteristics were reviewed. In all, 4 variables including age at diagnosis of kidney tumor, presence of syndromic manifestations, family history of kidney cancer, and number of primary malignancies were evaluated for association with positive test results in 2 groups: patients tested for renal cell carcinoma syndromes and Lynch syndrome. Guidance for genetic testing strategy in patients with kidney cancer is provided. Between 1999 and 2012, 120 patients with a history of kidney cancer were evaluated by the Clinical Genetics Service. The mean age at kidney cancer diagnosis was 52 years (interquartile range: 42-63), with 57% being women. A family history of kidney cancer was reported by 39 patients (33%). Time between diagnosis of first cancer and genetic consultation was 5 years in the remaining 23%. Overall, 95 patients were tested for genetic abnormalities with 27 (28%) testing positive. Testing for renal cell carcinoma (RCC)-related syndromes was performed on 43 patients, with 13 testing positive (30%). Lynch syndrome testing was positive in 9 patients (32%) after 28 were tested. In RCC-associated syndromes, young age of diagnosis was associated with positive test results. Conversely, syndromic manifestations and increasing number of primary malignancies were associated with positive Lynch testing. The discovery of inherited kidney cancer syndromes has provided a unique opportunity to identify patients at increased risk for cancer. Factors associated with positive genetic testing are unique to different syndromes. These data

  19. Use of fluorescent proteins and color-coded imaging to visualize cancer cells with different genetic properties.

    Science.gov (United States)

    Hoffman, Robert M

    2016-03-01

    Fluorescent proteins are very bright and available in spectrally-distinct colors, enable the imaging of color-coded cancer cells growing in vivo and therefore the distinction of cancer cells with different genetic properties. Non-invasive and intravital imaging of cancer cells with fluorescent proteins allows the visualization of distinct genetic variants of cancer cells down to the cellular level in vivo. Cancer cells with increased or decreased ability to metastasize can be distinguished in vivo. Gene exchange in vivo which enables low metastatic cancer cells to convert to high metastatic can be color-coded imaged in vivo. Cancer stem-like and non-stem cells can be distinguished in vivo by color-coded imaging. These properties also demonstrate the vast superiority of imaging cancer cells in vivo with fluorescent proteins over photon counting of luciferase-labeled cancer cells.

  20. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    NARCIS (Netherlands)

    Parikh, Sumit; Bernard, Geneviève; Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.; Patterson, Marc C.; Taft, Ryan J.; Vanderver, Adeline

    2015-01-01

    Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific

  1. MR textural analysis on T2 FLAIR images for the prediction of true oligodendroglioma by the 2016 WHO genetic classification.

    Science.gov (United States)

    Rui, Wenting; Ren, Yan; Wang, Yin; Gao, Xinyi; Xu, Xiao; Yao, Zhenwei

    2017-11-15

    The genetic status of 1p/19q is important for differentiating oligodendroglioma, isocitrate-dehydrogenase (IDH)-mutant, and 1p/19q-codeleted from diffuse astrocytoma, IDH-mutant according to the 2016 World Health Organization (WHO) criteria. To assess the value of magnetic resonance textural analysis (MRTA) on T 2 fluid-attenuated inversion recovery (FLAIR) images for making a genetically integrated diagnosis of true oligodendroglioma by WHO guidelines. Retrospective case control. In all, there were 54 patients with a histopathological diagnosis of diffuse glioma (grade II). All were tested for IDH and 1p/19q. 3.0T, including T 2 FLAIR sequence, axial T 1 -weighted, and T 2 -weighted sequence. MRTA on a representative tumor region of interest (ROI) was made on preoperative T 2 FLAIR images around the area that had the largest diameter of solid tumor using Omni Kinetics software. Differences between IDH-mutant and 1p/19q-codeleted and IDH-mutant and 1p/19q-intact gliomas were analyzed by the Mann-Whitney rank sum test. Receiver operating characteristic curves (ROC) were created to assess MRTA diagnostic performance. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated with a cutoff value according to the Youden Index. Comparisons demonstrated significant differences in kurtosis (P = 0.007), energy (0.008), entropy (0.008), mean deviation (MD) (features comprising entropy (area under the curve [AUC] = 0.718, sensitivity = 97.1%) and energy (0.719, 94.1%) had the highest sensitivity but lower specificity (both 45%). Second-order features such as HGLRE (AUC = 0.750, sensitivity = 73.5%, specificity = 80.0%) and sum average (0.751, 70.6%, 80.0%) had relatively higher specificity, and all had AUC >0.7. MD had the highest diagnostic performance, with AUC = 0.878, sensitivity = 94.1%, specificity = 75.0%, PPV = 86.5%, and NPV = 88.2%. MRTA on T 2 FLAIR images may be

  2. Thyroid disease in the pediatric patient: emphasizing imaging with sonography

    International Nuclear Information System (INIS)

    Babcock, Diane S.

    2006-01-01

    Thyroid disease does occur in the pediatric patient, and imaging plays an important role in its evaluation. A review is presented of normal development of the thyroid gland, the technique and indications for thyroid sonography, and key imaging features of congenital thyroid disorders (ectopic or absent thyroid, infantile goiter, thyroglossal duct remnants), benign thyroid masses (follicular adenoma, degenerative nodules, colloid and thyroid cysts), malignant masses (follicular, papillary and medullary carcinoma) and diffuse thyroid disease (acute bacterial thyroiditis, Hashimoto's thyroiditis, Grave's disease). (orig.)

  3. The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients.

    Science.gov (United States)

    Wattanachai, Nitsupa; Kaewmoongkun, Sutthida; Pussadhamma, Burabha; Makarawate, Pattarapong; Wongvipaporn, Chaiyasith; Kiatchoosakun, Songsak; Vannaprasaht, Suda; Tassaneeyakul, Wichittra

    2017-08-01

    The aim of this study was to investigate the contributions of non-genetic and genetic factors on the variability of stable warfarin doses in Thai patients. A total of 250 Thai patients with stable warfarin doses were enrolled in the study. Demographics and clinical data, e.g., age, body mass index, indications for warfarin and concomitant medications, were documented. Four single nucleotide polymorphisms in the VKORC1 - 1639G > A, CYP2C9*3, CYP4F2 rs2108622, and UGT1A1 rs887829 genes were detected from gDNA using TaqMan allelic discrimination assays. The patients with variant genotypes of VKORC1 - 1639G > A required significantly lower warfarin stable weekly doses (SWDs) than those with wild-type genotype (p warfarin SWDs than those with homozygous wild-type (p = 0.006). In contrast, there were no significant differences in the SWDs between the patients who carried variant alleles of CYP4F2 rs2108622 and UGT1A1 rs887829 as compared to wild-type allele carriers. Multivariate analysis, however, showed that CYP4F2 rs2108622 TT genotype accounted for a modest part of warfarin dose variability (1.2%). In contrast, VKORC1 - 1639G > A, CYP2C9*3, CYP4F2 rs2108622 genotypes and non-genetic factors accounted for 51.3% of dose variability. VKORC1 - 1639G > A, CYP2C9*3, and CYP4F2 rs2108622 polymorphisms together with age, body mass index, antiplatelet drug use, amiodarone use, and current smoker status explained 51.3% of individual variability in stable warfarin doses. In contrast, the UGT1A1 rs887829 polymorphism did not contribute to dose variability.

  4. Brain MR imaging finding in patients with central vertigo

    International Nuclear Information System (INIS)

    Jeong, Chun Keun; Kim, Sang Joon; Kim, You Me; Cha, Min Jung; Lee, Young Seok; Kim, Jae Il; Lee, Geun Ho; Rhee, Chung Koo; Park, Hyun Min

    1998-01-01

    To investigate brain lesions and their locations in patients with central vertigo, as seen on MR imaging. We retrospectively reviewed MR images of 85 patients with central type vertigo diagnosed on the basis of clinical symptoms and vestibular function test(VFT), and analyzed lesions fand their locations. Those located along the known central vestibular pathway were included in our study. In 29 of 85 patients(34%), lesions considered to be associated with central vertigo were detected on MR imaging. These included infarction(18 patients), hemorrhage(5), tumor(2), cavernous angioma(1), cerebellopontine angle cyst(1), tuberous sclerosis(1) and olivopontocerebellar atrophy (1);they were located in the parietal lobe(6 patients), the lateral medulla(5), the pons(5), the middle cerebellar peduncle(4), the corona radiata(3), and the cerebellar vermis(3). Thirty-eight cases showed high signal intensity lesions in deep cerebral matter, the basal ganglia, and pons but these were considered to be unrelated to central vertigo. MR imaging could be a useful tool for the evaluation of patients with central vertigo.=20

  5. Brain MR imaging finding in patients with central vertigo

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Chun Keun; Kim, Sang Joon; Kim, You Me; Cha, Min Jung; Lee, Young Seok; Kim, Jae Il; Lee, Geun Ho; Rhee, Chung Koo; Park, Hyun Min [Dankook Univ. College of Medicine, Chonan (Korea, Republic of)

    1998-11-01

    To investigate brain lesions and their locations in patients with central vertigo, as seen on MR imaging. We retrospectively reviewed MR images of 85 patients with central type vertigo diagnosed on the basis of clinical symptoms and vestibular function test(VFT), and analyzed lesions fand their locations. Those located along the known central vestibular pathway were included in our study. In 29 of 85 patients(34%), lesions considered to be associated with central vertigo were detected on MR imaging. These included infarction(18 patients), hemorrhage(5), tumor(2), cavernous angioma(1), cerebellopontine angle cyst(1), tuberous sclerosis(1) and olivopontocerebellar atrophy (1);they were located in the parietal lobe(6 patients), the lateral medulla(5), the pons(5), the middle cerebellar peduncle(4), the corona radiata(3), and the cerebellar vermis(3). Thirty-eight cases showed high signal intensity lesions in deep cerebral matter, the basal ganglia, and pons but these were considered to be unrelated to central vertigo. MR imaging could be a useful tool for the evaluation of patients with central vertigo.=20.

  6. Importance of magnetic resonance imaging in patients with fibrocystic changes.

    Science.gov (United States)

    Kiyak, G; Asik, E; Yazgan, A

    2011-01-01

    A proper detection of atypical epithelial hyperplasia (component of FCC) without missing the coexistent malign disease is the main problem in evaluating the FCC-affected patients. For some patients, it is not enough to use only mammography and ultrasonography in pursuit or decision biopsy. Magnetic resonance imaging (MRI) may be important in these patients. Nevertheless, the MRI features of FCC are not clearly known because there are very few studies specifically focused on FCC. Studies reporting on MRI of breast fibrocystic changes are very scarce and their MRI findings are not clearly known. The aim of this study was to determine the MRI characteristics of fibrocystic changes. Twenty-six patients with pathologically proven fibrocystic changes of the breast were retrospectively reviewed. The MRI study was performed using 1.5 T MR scanner with a phase array bilateral breast coil. The imaging protocol consisted of pre-contrast T1-weighted imaging and bilateral dynamic 3D contrast-enhanced imaging. The morphologic and kinetic features of fibrocystic changes on MRI were evaluated. Twenty-four patients showed benign enhancement kinetics (type 1), while 2 patients showed malignant enhancement kinetics (type 2). To our knowledge, the analysis of enhancement kinetics may be more useful in identifying atypical epithelial hyperplasia and cancer from other breast lesions provided that corrections are made for the true phase of menstrual cycle (Tab. 1, Fig. 1, Ref. 10).

  7. Imaging of patients treated with bariatric surgery.

    Science.gov (United States)

    Lemanowicz, Adam; Serafin, Zbigniew

    2014-01-01

    Over the past few years, obesity has become a major clinical and population concern in the majority of developed countries. Obesity leads to significant systemic disorders, such as hypertension, hypercholesterolemia, hypertriglyceridemia and insulin resistance, and also increases the risk of developing cardiovascular diseases (ischemic heart disease, ischemic stroke), metabolic diseases (type 2 diabetes), certain types of cancer, and degenerative bone disorders (osteoarthritis). Health hazards associated with epidemic of obesity and potential benefits of weight loss have spurred interest in new treatment methods. Bariatric surgical procedures constitute a recognized alternative in cases where conservative management of obesity fails. Several bariatric operations can be distinguished: restrictive procedures, such as adjustable gastric band (AGB) and vertical banded gastroplasty (VBG); predominantly malabsorptive procedures, such as biliopancreatic diversion (BPD), and a combination of both methods, such as Roux-en-Y gastric bypass. The adverse consequences of surgical treatment of obesity include i.a.: intestinal anastomotic leakage, impaired intestinal permeability and internal hernia, dilatation of the stomach, gastrointestinal anastomotic stenosis, marginal ulceration, incisional hernia. Basic knowledge of procedures in the surgical treatment of obesity is of vital importance for the radiologist during evaluation of upper gastrointestinal tract in the early and late postoperative period, allowing correct interpretation of acquired images as well as recognition of typical complications.

  8. Imaging of patients treated with bariatric surgery

    International Nuclear Information System (INIS)

    Lemanowicz, Adam; Serafin, Zbigniew

    2014-01-01

    Over the past few years, obesity has become a major clinical and population concern in the majority of developed countries. Obesity leads to significant systemic disorders, such as hypertension, hypercholesterolemia, hypertriglyceridemia and insulin resistance, and also increases the risk of developing cardiovascular diseases (ischemic heart disease, ischemic stroke), metabolic diseases (type 2 diabetes), certain types of cancer, and degenerative bone disorders (osteoarthritis). Health hazards associated with epidemic of obesity and potential benefits of weight loss have spurred interest in new treatment methods. Bariatric surgical procedures constitute a recognized alternative in cases where conservative management of obesity fails. Several bariatric operations can be distinguished: restrictive procedures, such as adjustable gastric band (AGB) and vertical banded gastroplasty (VBG); predominantly malabsorptive procedures, such as biliopancreatic diversion (BPD), and a combination of both methods, such as Roux-en-Y gastric bypass. The adverse consequences of surgical treatment of obesity include i.a.: intestinal anastomotic leakage, impaired intestinal permeability and internal hernia, dilatation of the stomach, gastrointestinal anastomotic stenosis, marginal ulceration, incisional hernia. Basic knowledge of procedures in the surgical treatment of obesity is of vital importance for the radiologist during evaluation of upper gastrointestinal tract in the early and late postoperative period, allowing correct interpretation of acquired images as well as recognition of typical complications

  9. Retroperitoneal schwannoma: diagnostic imaging findings in 5 patients

    International Nuclear Information System (INIS)

    Baltazar, Alberto; Santamarina, Mario; Scalise, Gabriela; Ponce de Leon, Valeria; Bello, Lorena

    2003-01-01

    Purpose: To evaluate the different imaging findings (US, CT and MRI) in retroperitoneal schwannoma. Materials and methods: 5 patients (3 male and 2 females) with a diagnosis of retroperitoneal schwannoma were retrospectively evaluated. Ages ranged from 33 to 63 years (means 54 years). The images (US, CT and MR) were analyzed and correlated to histopathologic results. Results: The most frequent clinical finding was abdominal pain (60%). A presumptive diagnosis prior to surgery was suggested in 3/5 cases that had well-defined masses with a predominant cystic appearance. All patients underwent surgery with tumoral resection. Only 2 patients (40%) had recurrence within a three years period of follow-up. Conclusion: Retroperitoneal schwannoma is an infrequent tumor. In our series, no pathognomotic features were observed on US, CT or MRI. However, 3/5 tumors showed high signal intensity on T2-weighted images due to cystic areas. (author)

  10. Patients radiation protection in medical imaging. Conference proceedings

    International Nuclear Information System (INIS)

    2011-12-01

    This document brings together the available presentations given at the conference organised by the French society of radiation protection about patients radiation protection in medical imaging. Twelve presentations (slides) are compiled in this document and deal with: 1 - Medical exposure of the French population: methodology and results (Bernard Aubert, IRSN); 2 - What indicators for the medical exposure? (Cecile Etard, IRSN); 3 - Guidebook of correct usage of medical imaging examination (Philippe Grenier, Pitie-Salpetriere hospital); 4 - Radiation protection optimization in pediatric imaging (Hubert Ducou-Le-Pointe, Aurelien Bouette (Armand-Trousseau children hospital); 5 - Children's exposure to image scanners: epidemiological survey (Marie-Odile Bernier, IRSN); 6 - Management of patient's irradiation: from image quality to good practice (Thierry Solaire, General Electric); 7 - Dose optimization in radiology (Cecile Salvat (Lariboisiere hospital); 8 - Cancer detection in the breast cancer planned screening program - 2004-2009 era (Agnes Rogel, InVS); 9 - Mammographic exposures - radiobiological effects - radio-induced DNA damages (Catherine Colin, Lyon Sud hospital); 10 - Breast cancer screening program - importance of non-irradiating techniques (Anne Tardivon, Institut Curie); 11 - Radiation protection justification for the medical imaging of patients over the age of 50 (Michel Bourguignon, ASN); 12 - Search for a molecular imprint for the discrimination between radio-induced and sporadic tumors (Sylvie Chevillard, CEA)

  11. Imaging intracellular pH in live cells with a genetically encoded red fluorescent protein sensor.

    Science.gov (United States)

    Tantama, Mathew; Hung, Yin Pun; Yellen, Gary

    2011-07-06

    Intracellular pH affects protein structure and function, and proton gradients underlie the function of organelles such as lysosomes and mitochondria. We engineered a genetically encoded pH sensor by mutagenesis of the red fluorescent protein mKeima, providing a new tool to image intracellular pH in live cells. This sensor, named pHRed, is the first ratiometric, single-protein red fluorescent sensor of pH. Fluorescence emission of pHRed peaks at 610 nm while exhibiting dual excitation peaks at 440 and 585 nm that can be used for ratiometric imaging. The intensity ratio responds with an apparent pK(a) of 6.6 and a >10-fold dynamic range. Furthermore, pHRed has a pH-responsive fluorescence lifetime that changes by ~0.4 ns over physiological pH values and can be monitored with single-wavelength two-photon excitation. After characterizing the sensor, we tested pHRed's ability to monitor intracellular pH by imaging energy-dependent changes in cytosolic and mitochondrial pH.

  12. Phase Retrieval Using a Genetic Algorithm on the Systematic Image-Based Optical Alignment Testbed

    Science.gov (United States)

    Taylor, Jaime R.

    2003-01-01

    NASA s Marshall Space Flight Center s Systematic Image-Based Optical Alignment (SIBOA) Testbed was developed to test phase retrieval algorithms and hardware techniques. Individuals working with the facility developed the idea of implementing phase retrieval by breaking the determination of the tip/tilt of each mirror apart from the piston motion (or translation) of each mirror. Presented in this report is an algorithm that determines the optimal phase correction associated only with the piston motion of the mirrors. A description of the Phase Retrieval problem is first presented. The Systematic Image-Based Optical Alignment (SIBOA) Testbeb is then described. A Discrete Fourier Transform (DFT) is necessary to transfer the incoming wavefront (or estimate of phase error) into the spatial frequency domain to compare it with the image. A method for reducing the DFT to seven scalar/matrix multiplications is presented. A genetic algorithm is then used to search for the phase error. The results of this new algorithm on a test problem are presented.

  13. MR imaging features of foot involvement in patients with psoriasis

    Energy Technology Data Exchange (ETDEWEB)

    Erdem, C. Zuhal [Department of Radiology, Zonguldak Karaelmas University, School of Medicine, Zonguldak (Turkey)], E-mail: sunarerdem@yahoo.com; Tekin, Nilgun Solak [Department of Dermatology, Zonguldak Karaelmas University, School of Medicine, Zonguldak (Turkey); Sarikaya, Selda [Department of Physical Therapy and Rehabilitation, Zonguldak Karaelmas University, School of Medicine, Zonguldak (Turkey); Erdem, L. Oktay; Gulec, Sezen [Department of Radiology, Zonguldak Karaelmas University, School of Medicine, Zonguldak (Turkey)

    2008-09-15

    Objective: To determine alterations of the soft tissues, tendons, cartilage, joint spaces, and bones of the foot using magnetic resonance (MR) imaging in patients with psoriasis. Materials and methods: Clinical and MR examination of the foot was performed in 26 consecutive patients (52 ft) with psoriasis. As a control group, 10 healthy volunteers (20 ft) were also studied. Joint effusion/synovitis, retrocalcaneal bursitis, retroachilles bursitis, Achilles tendonitis, soft-tissue edema, para-articular enthesophytes, bone marrow edema, sinus tarsi syndrome, enthesopathy at the Achilles attachment and at the plantar fascia attachment, plantar fasciitis, tenosynovitis, subchondral cysts, and bone erosions, joint space narrowing, subchondral signal changes, osteolysis, luxation, and sub-luxation were examined. Results: Clinical signs and symptoms (pain and swelling) due to foot involvement were present in none of the patients while frequency of involvement was 92% (24/26) by MR imaging. The most common MR imaging findings were Achilles tendonitis (acute and peritendinitis) (57%), retrocalcaneal bursitis (50%), joint effusion/synovitis (46%), soft-tissue edema (46%), and para-articular enthesophytes (38%). The most commonly involved anatomical region was the hindfoot (73%). Conclusion: Our data showed that the incidence of foot involvement was very high in asymptomatic patients with psoriasis on MR imaging. Further MR studies are needed to confirm these data. We conclude that MR imaging may be of importance especially in early diagnosis and treatment of inflammatory changes in the foot.

  14. MR imaging features of foot involvement in patients with psoriasis

    International Nuclear Information System (INIS)

    Erdem, C. Zuhal; Tekin, Nilgun Solak; Sarikaya, Selda; Erdem, L. Oktay; Gulec, Sezen

    2008-01-01

    Objective: To determine alterations of the soft tissues, tendons, cartilage, joint spaces, and bones of the foot using magnetic resonance (MR) imaging in patients with psoriasis. Materials and methods: Clinical and MR examination of the foot was performed in 26 consecutive patients (52 ft) with psoriasis. As a control group, 10 healthy volunteers (20 ft) were also studied. Joint effusion/synovitis, retrocalcaneal bursitis, retroachilles bursitis, Achilles tendonitis, soft-tissue edema, para-articular enthesophytes, bone marrow edema, sinus tarsi syndrome, enthesopathy at the Achilles attachment and at the plantar fascia attachment, plantar fasciitis, tenosynovitis, subchondral cysts, and bone erosions, joint space narrowing, subchondral signal changes, osteolysis, luxation, and sub-luxation were examined. Results: Clinical signs and symptoms (pain and swelling) due to foot involvement were present in none of the patients while frequency of involvement was 92% (24/26) by MR imaging. The most common MR imaging findings were Achilles tendonitis (acute and peritendinitis) (57%), retrocalcaneal bursitis (50%), joint effusion/synovitis (46%), soft-tissue edema (46%), and para-articular enthesophytes (38%). The most commonly involved anatomical region was the hindfoot (73%). Conclusion: Our data showed that the incidence of foot involvement was very high in asymptomatic patients with psoriasis on MR imaging. Further MR studies are needed to confirm these data. We conclude that MR imaging may be of importance especially in early diagnosis and treatment of inflammatory changes in the foot

  15. Imaging genetics paradigms in depression research: Systematic review and meta-analysis.

    Science.gov (United States)

    Pereira, Lícia P; Köhler, Cristiano A; Stubbs, Brendon; Miskowiak, Kamilla W; Morris, Gerwyn; de Freitas, Bárbara P; Thompson, Trevor; Fernandes, Brisa S; Brunoni, André R; Maes, Michael; Pizzagalli, Diego A; Carvalho, André F

    2018-05-17

    Imaging genetics studies involving participants with major depressive disorder (MDD) have expanded. Nevertheless, findings have been inconsistent. Thus, we conducted a systematic review and meta-analysis of imaging genetics studies that enrolled MDD participants across major databases through June 30th, 2017. Sixty-five studies met eligibility criteria (N = 4034 MDD participants and 3293 controls), and there was substantial between-study variability in the methodological quality of included studies. However, few replicated findings emerged from this literature with only 22 studies providing data for meta-analyses (882 participants with MDD and 616 controls). Total hippocampal volumes did not significantly vary in MDD participants or controls carrying either the BDNF Val66Met 'Met' (386 participants with MDD and 376 controls) or the 5-HTTLPR short 'S' (310 participants with MDD and 230 controls) risk alleles compared to non-carriers. Heterogeneity across studies was explored through meta-regression and subgroup analyses. Gender distribution, the use of medications, segmentation methods used to measure the hippocampus, and age emerged as potential sources of heterogeneity across studies that assessed the association of 5-HTTLPR short 'S' alleles and hippocampal volumes. Our data also suggest that the methodological quality of included studies, publication year, and the inclusion of brain volume as a covariate contributed to the heterogeneity of studies that assessed the association of the BDNF Val66Met 'Met' risk allele and hippocampal volumes. In exploratory voxel-wise meta-analyses, MDD participants carrying the 5-HTTLPR short 'S' allele had white matter microstructural abnormalities predominantly in the corpus callosum, while carriers of the BDNF Val66Met 'Met' allele had larger gray matter volumes and hyperactivation of the right middle frontal gyrus compared to non-carriers. In conclusion, few replicated findings emerged from imaging genetics studies that

  16. Clinical and genetic analysis of Indian patients with NDP-related retinopathies.

    Science.gov (United States)

    Sudha, Dhandayuthapani; Ganapathy, Aparna; Mohan, Puja; Mannan, Ashraf U; Krishna, Shuba; Neriyanuri, Srividya; Swaminathan, Meenakshi; Rishi, Pukhraj; Chidambaram, Subbulakshmi; Arunachalam, Jayamuruga Pandian

    2017-06-10

    NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies. The patients underwent complete ophthalmic examination followed by genetic analyses. NDP gene was screened by direct sequencing approach. Targeted resequencing of several other ocular genes was carried out in patient samples that either indicated NDP gene deletion or tested negative for NDP mutation. Gene quantitation analysis was performed using real-time PCR. The whole NDP gene was deleted in patient I, while a missense NDP mutation, c.205T>C, was identified in patient II, and both had classical Norrie disease ocular phenotype (with no other systemic defects). Patient III who was diagnosed with familial exudative vitreoretinopathy did not show any mutation in the known candidate genes as well as in other ocular genes tested. The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family members during genetic counseling.

  17. Telegenetics use in presymptomatic genetic counselling : patient evaluations on satisfaction and quality of care

    NARCIS (Netherlands)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.

    In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large

  18. Magnetic resonance imaging in patients with panhypopituitarism

    Energy Technology Data Exchange (ETDEWEB)

    Pozzi Mucelli, R.S. [Ist. di Radiologia, Univ. di Trieste, Ospedale di Cattinara (Italy); Frezza, F. [Ist. di Radiologia, Univ. di Trieste, Ospedale di Cattinara (Italy); Magnaldi, S. [Ist. di Radiologia, Univ. di Trieste, Ospedale di Cattinara (Italy); Proto, G. [Servizio di Endocrinologia, Ospedale Civile di Udine (Italy)

    1992-02-01

    Primary panhypopituitarism consists of functional deficiency of the anterior pituitary lobe, which appears during infancy or adolescence. The magnetic resonance findings in 10 patients with a history of primary hypopituitarism are presented. The findings include: reduced pituitary size in all cases; partially (8 cases) or totally (2 cases) empty sella; thin (4 cases), partially visible (3 cases) or absent (2 cases) pituitary stalk; absence of the posterior lobe in 9 cases; bright spot corresponding to an ectopic posterior lobe in 8 cases. These findings are similar to those already reported in pituitary dwarfism and may help understanding of the pathogenesis of the disease, which seems to be related to a pituitary stalk lesion. (orig.)

  19. Magnetic resonance imaging in patients with panhypopituitarism

    International Nuclear Information System (INIS)

    Pozzi Mucelli, R.S.; Frezza, F.; Magnaldi, S.; Proto, G.

    1992-01-01

    Primary panhypopituitarism consists of functional deficiency of the anterior pituitary lobe, which appears during infancy or adolescence. The magnetic resonance findings in 10 patients with a history of primary hypopituitarism are presented. The findings include: reduced pituitary size in all cases; partially (8 cases) or totally (2 cases) empty sella; thin (4 cases), partially visible (3 cases) or absent (2 cases) pituitary stalk; absence of the posterior lobe in 9 cases; bright spot corresponding to an ectopic posterior lobe in 8 cases. These findings are similar to those already reported in pituitary dwarfism and may help understanding of the pathogenesis of the disease, which seems to be related to a pituitary stalk lesion. (orig.)

  20. Imaging of the hip in patients with rheumatic disorders

    International Nuclear Information System (INIS)

    Boutry, Nathalie; Khalil, Chadi; Jaspart, Matthieu; Marie-Helene, Vieillard; Demondion, Xavier; Cotten, Anne

    2007-01-01

    Hip joint abnormalities are commonly encountered in patients with rheumatic disorders. Although conventional radiography remains the mainstay for diagnosis of joint damage and subsequent follow-up, magnetic resonance imaging and, to a lesser extent, ultrasound have afforded the ability to detect early signs of articular involvement (i.e., synovitis and bone erosions), and to assess disease activity in treated patients. In more advanced stages of rheumatic disorders, magnetic resonance imaging and ultrasound are both useful in assessing paraarticular involvement (i.e., bursitis and synovial cysts)

  1. Imaging of the hip in patients with rheumatic disorders

    Energy Technology Data Exchange (ETDEWEB)

    Boutry, Nathalie [Department of Musculoskeletal Radiology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France)]. E-mail: nboutry@chru-lille.fr; Khalil, Chadi [Department of Musculoskeletal Radiology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France); Jaspart, Matthieu [Department of Musculoskeletal Radiology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France); Department of Anatomy, Faculty of Medicine, Centre Hospitalier Universitaire de Lille (France); Marie-Helene, Vieillard [Department of Rheumatology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France); Demondion, Xavier [Department of Musculoskeletal Radiology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France); Department of Anatomy, Faculty of Medicine, Centre Hospitalier Universitaire de Lille (France); Cotten, Anne [Department of Musculoskeletal Radiology, Roger Salengro Hospital, Centre Hospitalier Universitaire de Lille (France)

    2007-07-15

    Hip joint abnormalities are commonly encountered in patients with rheumatic disorders. Although conventional radiography remains the mainstay for diagnosis of joint damage and subsequent follow-up, magnetic resonance imaging and, to a lesser extent, ultrasound have afforded the ability to detect early signs of articular involvement (i.e., synovitis and bone erosions), and to assess disease activity in treated patients. In more advanced stages of rheumatic disorders, magnetic resonance imaging and ultrasound are both useful in assessing paraarticular involvement (i.e., bursitis and synovial cysts)

  2. Genetic polymorphisms variants in interleukin-6 and interleukin-1beta patients with obstructive sleep apnea syndrome in East Northern Turkey.

    Science.gov (United States)

    Gok, Ilhami; Huseyinoglu, Nergiz; Ilhan, Dogan

    2015-08-01

    To investigate the relationship of IL-1β and IL-6 cytokine gene polymorphisms with obstructive sleep apnea syndrome (OSAS) in 61 patients admitted to the neurology clinic in Kafkas University Hospital with insomnia problem who were diagnosed with OSAS in sleeping labs, and 80 healthy subjects not associated with the syndrome. METHODS :Blood samples were taken to isolate DNA from patients diagnosed with OSAS based on polysomnography results and healthy controls. DNA amplification of the genes was performed with PCR. Amplification products were cut with the restriction enzymes in order to determine IL-1 gene (TaqI) and IL-6 gene (Lwel) polymorphisms. The cut DNA fragments were carried out in agarose gel electrophoresis, and RFLP analysis was performed by utilizing the images with gel imaging system. PCR products were sequenced with an Applied Biosystems Automated Sequencer. Polymorphic changes were observed for IL-1β gene in 26 of 62 patients (41.9%), and 16 of the 80 (25.8%) in the control group. The incidence of polymorphic changes in IL-6 gene was in seen in seven (of the 62 patients) (11.3%), and in the 16 (20%) controls. The findings on the genomic level in OSAS may provide an important contribution to diagnosis of obstructive sleep apnea syndrome in clinical practice, as well as it helps to obtain the results easily about environmental and genetic interaction of OSAS patients. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.

  3. Genetic polymorphisms variants in interleukin-6 and interleukin-1beta patients with obstructive sleep apnea syndrome in East Northern Turkey

    Directory of Open Access Journals (Sweden)

    Ilhami Gok

    2015-08-01

    Full Text Available Aim To investigate the relationship of IL-1β and IL-6 cytokine gene polymorphisms with obstructive sleep apnea syndrome (OSAS in 61 patients admitted to the neurology clinic in Kafkas University Hospital with insomnia problem who were diagnosed with OSAS in sleeping labs, and 80 healthy subjects not associated with the syndrome. Methods Blood samples were taken to isolate DNA from patients diagnosed with OSAS based on polysomnography results and healthy controls. DNA amplification of the genes was performed with PCR. Amplification products were cut with the restriction enzymes in order to determine IL-1 gene (TaqI and IL-6 gene (Lwel polymorphisms. The cut DNA fragments were carried out in agarose gel electrophoresis, and RFLP analysis was performed by utilizing the images with gel imaging system. PCR products were sequenced with an Applied Biosystems Automated Sequencer. Results Polymorphic changes were observed for IL-1β gene in 26 of 62 patients (41.9%, and 16 of the 80 (25.8% in the control group. The incidence of polymorphic changes in IL-6 gene was in seen in seven (of the 62 patients (11.3%, and in the 16 (20% controls. Conclusion The findings on the genomic level in OSAS may provide an important contribution to diagnosis of obstructive sleep apnea syndrome in clinical practice, as well as it helps to obtain the results easily about environmental and genetic interaction of OSAS patients.

  4. Pancreatic cancer cell lines as patient-derived avatars: genetic characterisation and functional utility.

    Science.gov (United States)

    Knudsen, Erik S; Balaji, Uthra; Mannakee, Brian; Vail, Paris; Eslinger, Cody; Moxom, Christopher; Mansour, John; Witkiewicz, Agnieszka K

    2018-03-01

    Pancreatic ductal adenocarcinoma (PDAC) is a therapy recalcitrant disease with the worst survival rate of common solid tumours. Preclinical models that accurately reflect the genetic and biological diversity of PDAC will be important for delineating features of tumour biology and therapeutic vulnerabilities. 27 primary PDAC tumours were employed for genetic analysis and development of tumour models. Tumour tissue was used for derivation of xenografts and cell lines. Exome sequencing was performed on the originating tumour and developed models. RNA sequencing, histological and functional analyses were employed to determine the relationship of the patient-derived models to clinical presentation of PDAC. The cohort employed captured the genetic diversity of PDAC. From most cases, both cell lines and xenograft models were developed. Exome sequencing confirmed preservation of the primary tumour mutations in developed cell lines, which remained stable with extended passaging. The level of genetic conservation in the cell lines was comparable to that observed with patient-derived xenograft (PDX) models. Unlike historically established PDAC cancer cell lines, patient-derived models recapitulated the histological architecture of the primary tumour and exhibited metastatic spread similar to that observed clinically. Detailed genetic analyses of tumours and derived models revealed features of ex vivo evolution and the clonal architecture of PDAC. Functional analysis was used to elucidate therapeutic vulnerabilities of relevance to treatment of PDAC. These data illustrate that with the appropriate methods it is possible to develop cell lines that maintain genetic features of PDAC. Such models serve as important substrates for analysing the significance of genetic variants and create a unique biorepository of annotated cell lines and xenografts that were established simultaneously from same primary tumour. These models can be used to infer genetic and empirically determined

  5. Cardiac magnetic resonance imaging in patients with congenital heart disease

    International Nuclear Information System (INIS)

    Kreitner, Karl-Friedrich; Sorantin, Erich

    2015-01-01

    The prevalence of congenital heart disease (CHD) is around 10 per 1000 live births in Germany. More than 90 % of these patients will survive into adulthood due to improvements in therapy. The classification of CHD may be based according to the anatomic structures involved, to the presence of an intracardiac shunt, the presence of a cyanosis and the intensity of therapy and complexity of the disease. Nearly half of all patients with CHD suffer from an intracardiac shunt, whereas complex cases such as patients with a tetralogy of Fallot or transposition of the great arteries are much more rare. Cardiac magnetic resonance imaging plays an important role in the work-up and follow-up of patients with CHD, especially after infancy and childhood. Depending on the abnormality in question, a multiparametric examination protocol is mandatory. Knowledge of operative procedures and findings of other imaging modalities help to optimize examination and time needed for it.

  6. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Chou, Janet; Bainter, Wayne; Platt, Craig D; Tavassoli, Mahmood; Momen, Tooba; Tavakol, Marzieh; Eslamian, Mohammad Hossein; Gharagozlou, Mohammad; Movahedi, Masoud; Ghadami, Mohsen; Hamidieh, Amir Ali; Azizi, Gholamreza; Yazdani, Reza; Afarideh, Mohsen; Ghajar, Alireza; Havaei, Arash; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Cheraghi, Taher; Behniafard, Nasrin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Najmeddin; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Dabbaghzadeh, Abbas; Shirkani, Afshin; Nasiri Kalmarzi, Rasoul; Mortazavi, Seyed Hamidreza; Tafaroji, Javad; Khalili, Abbas; Mohammadi, Javad; Negahdari, Babak; Joghataei, Mohammad-Taghi; Al-Ramadi, Basel K; Picard, Capucine; Parvaneh, Nima; Rezaei, Nima; Chatila, Talal A; Massaad, Michel J; Keles, Sevgi; Hammarström, Lennart; Geha, Raif S; Aghamohammadi, Asghar

    2018-04-01

    Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  7. Large resistive 2D Micromegas with genetic multiplexing and some imaging applications

    Science.gov (United States)

    Bouteille, S.; Attié, D.; Baron, P.; Calvet, D.; Magnier, P.; Mandjavidze, I.; Procureur, S.; Riallot, M.

    2016-10-01

    The performance of the first large resistive Micromegas detectors with 2D readout and genetic multiplexing is presented. These detectors have a 50 × 50cm2 active area and are equipped with 1024 strips both in X- and Y-directions. The same genetic multiplexing pattern is applied on both coordinates, resulting in the compression of signals on 2 × 61 readout channels. Four such detectors have been built at CERN, and extensively tested with cosmics. The resistive strip film allows for very high gain operation, compensating for the charge spread on the 2 dimensions as well as the S / N loss due to the huge, 1 nF input capacitance. This film also creates a significantly different signal shape in the X- and Y-coordinates due to the charge evacuation along the resistive strips. All in all a detection efficiency above 95% is achieved with a 1 cm drift gap. Though not yet optimal, the measured 300 μm spatial resolution allows for very precise imaging in the field of muon tomography, and some applications of these detectors are presented.

  8. Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis.

    Science.gov (United States)

    Zhiping, W; Quwen, L; Hai, Z; Jian, Z; Peiyi, G

    2016-01-01

    We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. We also verified that mitochondrial heterozygous mutations and c.410 C>T mutation causing p.Thr 137 Met could be detected in oral epithelial cells or in urine sediment cells. In addition, molecular imaging was carried out in the affected family members. In this pedigree, MELAS syndrome accompanied by pancreatitis was an important clinical feature, followed by diabetes. Heteroplasmy of the mtDNA A3243G and c.410 C>T mutation of PRSS1 was found in all tissue samples of these patients, but no mutations were found in 520 normal control and normal individuals of the family. However, based on molecular imaging observations, patients with relatively higher lactate/pyruvate levels had more typical and more severe symptoms, particularly those of pancreatic disease (diabetes or pancreatitis). MELAS syndrome may be associated with pancreatitis. For the diagnosis, it is more reasonable to perform molecular imaging combined with gene diagnosis.

  9. Patient dose with quality image under diagnostic reference levels

    International Nuclear Information System (INIS)

    Akula, Suresh Kumar; Singh, Gurvinder; Chougule, Arun

    2016-01-01

    Need to set Diagnostic Reference Level (DRL) for locations for all diagnostic procedures in local as compared to National. The review of DRL's should compare local with national or referenced averages and a note made of any significant variances to these averages and the justification for it. To survey and asses radiation doses to patient and reduce the redundancy in patient imaging to maintain DRLs

  10. [Body image disorder in 100 Tunisian female breast cancer patients].

    Science.gov (United States)

    Faten, Ellouze; Nader, Marrakchi; Raies, Hend; Sana, Masmoudi; Amel, Mezlini; Fadhel, M'rad Mohamed

    2018-04-01

    This study aimed at tracking the prevalence of body image disorder in a population of Tunisian women followed for breast cancer and the factors associated with it. The cross-sectional study was conducted at Salah-Azaiez Institute in Tunis, over a period of four months. One hundred outpatients followed for confirmed breast cancer were recruited. The questionnaire targeted the women's sexuality and their couple relationships, along with their socio-demographic, clinical, and therapeutic characteristics. The scales used were BIS, HADS, and FSFI. The prevalence of body image disorder according to BIS was 45% with an average of 11.5±11.2 among the interrogated patients, 24.7% of which reported an alteration in their couple relationships and 47% in their sexual relations. In univariate analysis, body image disorder was associated with family support, change in couple relationship, depression and anxiety. Body image disorder and sexual dysfunction were interrelated: each of them fostered the prevalence of the other. Multivariate analysis showed that occupational activity was an independent predictor and the absence of anxiety an independent protective factor. Body image disorder was an independent predictive factor of depression and anxiety. The quality of couple relation and sexuality, along with the impact of the patient's surrounding are decisive for the protection or alteration of her body image. Copyright © 2018 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  11. MR imaging findings of patients with mesial temporal sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Jung; Kim, Sun Yong; Suh, Jung Ho [School of Medicine, Ajou University, Suwon (Korea, Republic of)

    2000-06-01

    To evaluate the MR imaging findings of patients with mesial temporal sclerosis. We retrospectively reviewed the MR imaging findings of 116 patients diagnosed by MRI as suffering from mesial temporal sclerosis. In 18 of these, the condition was also histologically proven. Among the 116 patients, volume loss of the hippocampus was found in 95 (81.9%) and signal changes of the hippocampus in 53 (45.7%). Decreased signal intensity in the hippocampus on T1-weighted images was found in 13 (11.2%) and increased signal on T2-weighted images in 50 (43.1%). Signal abnormality in the hippocampus on both T1- and T2-weighted images was found in ten, and associated extrahippocampal abnormalities, as follows, in 20 (17.2%): atrophy of fornix (n=3D10), atrophy of the mammillary body (n=3D8), atrophy of the amygdala (n=3D10), atrophy or increased T2 signal intensity of the anterior thalamic nuclei (n=3D2), atrophy of the cingulate gyrus (n=3D2), atrophy or increased signal intensity of the anterior temporal lobe (n=3D8), and cerebral hemiatrophy (n=3D4). A high T2 signal and atrophy of the hippocampus are the most common and important MRI findings of mesial temporal sclerosis. Other abnormal findings, if any, which may be found in extrahippocampal structures such as the fornix, mammillary body and temporal lobe, should, however, also be carefully observed. (author)

  12. Epidemio-clinical and magnetic resonance imaging correlation of meningiomas in Yemeni patients

    International Nuclear Information System (INIS)

    Alansi, M.

    2012-01-01

    Full text: Intracranial meningiomas are the most common tumor derived from non-neural epithelial tissues, accounting for 13% to 26% of all intracranial tumors. In Yemen, several epidemiological studies have showed an increasing rate of meningiomas during the last 15-20 years. This can be explained by the influence of specific epidemiological factors (racial, genetic, toxic, etc) as well as, noticeably improved diagnostic imaging. A specific risk factor for Yemeni subpopulation groups is chronic use of Khat (Catha Edulis Forskal) - an amphetamine-like product, associated with a variety of serious health, social and economic problems. The present study analyzed the imaging characteristics of meningiomas in Yemeni patients, who systemically use CE, compared to those who never consume it

  13. Magnetic resonance imaging in patients with valvular heart disease

    International Nuclear Information System (INIS)

    Sechtem, U.; Welslau, R.; Hilger, H.H.; Theissen, P.; Jungehuelsing, M.; Schicha, H.

    1989-01-01

    In spite of the great number of imaging procedures available, it is still difficult to quantify the severity of valvular heart disease. Dynamic MRI offers new approaches to visualize the turbulent blood flow through stenosed or insufficient heart valves. In addition, it is possible to assess the severity of valvular insufficiency based on precise measurements of rigth- and left-ventricular stroke volumes or of systemic and pulmonary flow. Valvular stenoses are difficult to quantify by MRI because flow velocity measurements based on phase analysis can only be made at low flow rates at present. Some progress may be achieved by further shortening of echo times. In patients with cardiac valve replacement MRI is often superior to other imaging procedures because variable imaging planes facilitate differentiation between transvalvular and paravalvular leaks. Additionally, the severity of valvular incompetence can be assessed in such cases in the same way as in patients with insufficiency of the native heart valve. (orig.) [de

  14. Association Between Genetic Polymorphisms and Pain Sensitivity in Patients with Hip Osteoarthritis

    DEFF Research Database (Denmark)

    Olesen, Anne E; Nielsen, Lecia M; Feddersen, Søren

    2018-01-01

    , kappa, and delta opioid receptor genes (OPRM1, OPRK1, and OPRD1) and the catechol-O-methyltransferase gene (COMT) influenced the pain phenotype in patients with osteoarthritis. METHODS: The frequencies of 17 polymorphisms were examined. Pain sensitivity was assessed preoperatively by (1) hip rotation......BACKGROUND: Factors such as age, gender, and genetic polymorphisms may explain individual differences in pain phenotype. Genetic associations with pain sensitivity have previously been investigated in osteoarthritis patients, with a focus on the P2X7, TRPV1, and TACR1 genes. However, other genes...... may play a role as well. Osteoarthritis is a common joint disease, and many patients suffering from this disease are thought to have increased sensitivity to noxious stimuli resulting from sensitization in the nociceptive system. The aim of this study was to investigate if genetic variants of mu...

  15. Identification of genetic markers for treatment success in heart failure patients: insight from cardiac resynchronization therapy.

    Science.gov (United States)

    Schmitz, Boris; De Maria, Renata; Gatsios, Dimitris; Chrysanthakopoulou, Theodora; Landolina, Maurizio; Gasparini, Maurizio; Campolo, Jonica; Parolini, Marina; Sanzo, Antonio; Galimberti, Paola; Bianchi, Michele; Lenders, Malte; Brand, Eva; Parodi, Oberdan; Lunati, Maurizio; Brand, Stefan-Martin

    2014-12-01

    Cardiac resynchronization therapy (CRT) can improve ventricular size, shape, and mass and reduce mitral regurgitation by reverse remodeling of the failing ventricle. About 30% of patients do not respond to this therapy for unknown reasons. In this study, we aimed at the identification and classification of CRT responder by the use of genetic variants and clinical parameters. Of 1421 CRT patients, 207 subjects were consecutively selected, and CRT responder and nonresponder were matched for their baseline parameters before CRT. Treatment success of CRT was defined as a decrease in left ventricular end-systolic volume >15% at follow-up echocardiography compared with left ventricular end-systolic volume at baseline. All other changes classified the patient as CRT nonresponder. A genetic association study was performed, which identified 4 genetic variants to be associated with the CRT responder phenotype at the allelic (Passociated with remodeling of the failing ventricle. © 2014 American Heart Association, Inc.

  16. Genetic Association of , and - with Behcet's Disease in Saudi Patients

    Directory of Open Access Journals (Sweden)

    Fahda Al-Okaily

    2016-01-01

    Full Text Available Background HLA-B*51 has been universally associated with Behcet's disease (BD susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and - B alleles with BD in Saudi patients. Materials and Methods Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type (R SSO in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls. Results Our results revealed that frequencies of HLA-A*26, -A*31 , and - B*51 were significantly higher in BD patients than in controls, suggesting that HLA-A*26, -A*31 , and - B*51 are associated with BD. The frequency of HLA-B*15 was significantly lower in BD patients than in controls. Stratification of genotyping results into active and nonactive forms of BD revealed that the frequency of HLA-A*31 was significantly higher in the nonactive form than in the active form of BD, while there was no significant difference in the distribution of other alleles between the two forms of BD. Conclusion This study suggests that HLA-A*26, -A*31 , and - B*51 are associated with susceptibility risk to BD, while HLA-B*15 may be protective in Saudi patients. However, larger scale studies are needed to confirm these findings.

  17. Pulmonary Cryptococcosis: Imaging Findings in 23 Non-AIDS Patients

    Energy Technology Data Exchange (ETDEWEB)

    Song, Kyoung Doo; Lee, Kyung Soo; Kim, Tae Sung; Yi, Chin A; Chung, Myung Jin [Samsung Medical Center, Seoul (Korea, Republic of); Man Pyo Chung; O Jung Kwon [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2010-08-15

    We aimed to review the patterns of lung abnormalities of pulmonary cryptococcosis on CT images, position emission tomography (PET) findings of the disease, and the response of lung abnormalities to the therapies in non-AIDS patients. We evaluated the initial CT (n = 23) and 18F-fluorodeoxyglucose (FDG) PET (n = 10), and follow-up (n = 23) imaging findings of pulmonary cryptococcosis in 23 non-AIDS patients. Lung lesions were classified into five patterns at CT: single nodular, multiple clustered nodular, multiple scattered nodular, mass-like, and bronchopneumonic patterns. The CT pattern analyses, PET findings, and therapeutic responses were recorded. A clustered nodular pattern was the most prevalent and was observed in 10 (43%) patients. This pattern was followed by solitary pulmonary nodular (n = 4, 17%), scattered nodular (n = 3, 13%), bronchopneumonic (n = 2, 9%), and single mass (n = 1, 4%) patterns. On PET scans, six (60%) of 10 patients showed higher FDG uptake and four (40%) demonstrated lower FDG uptake than the mediastinal blood pool. With specific treatment of the disease, a complete clearance of lung abnormalities was noted in 15 patients, whereas a partial response was noted in seven patients. In one patient where treatment was not performed, the disease showed progression. Pulmonary cryptococcosis most commonly appears as clustered nodules and is a slowly progressive and slowly resolving pulmonary infection. In two-thirds of patients, lung lesions show high FDG uptake, thus simulating a possible malignant condition

  18. Whole heart cine MR imaging of pulmonary veins in patients with congenital heart disease. Comparison with Spin Echo MR imaging

    International Nuclear Information System (INIS)

    Mitsui, Hideaki; Saito, Haruo; Ishibashi, Tadashi; Takahashi, Shoki; Zuguchi, Masayuki; Yamada, Shogo

    2002-01-01

    We evaluated the accuracy of Whole Heart Cine (WHC) magnetic resonance (MR) imaging in the depiction of pulmonary veins (PVs) in patients with congenital heart disease (CHD) compared to that of spin echo (SE) MR imaging. Among our 35 patients, 4 patients had anomalous PV return. Detectability of four PVs on each MR examination images were evaluated. MR imaging is an effective modality for the clarification of PVs, and WHC MR imaging is more useful in delineating PV anomalies than SE MR imaging. (author)

  19. CT and MR imaging features in patients with intracranial dolichoectasia

    Energy Technology Data Exchange (ETDEWEB)

    Tien, Kuang Lung; Yu, In Kyu; Yoon, Sook Ja; Yoon, Yong Kyu [Eulji College of Medicine, Eulji Hospital, Seoul (Korea, Republic of)

    2000-02-01

    To describe the CT and MR imaging features in patients with intracranial dolichoectasia. The CT (n=3D21), MR (n=3D20) and MRA (n=3D11) imaging features seen in 28 patients (M:F=3D12:16 aged between 65 and 82 (mean, 65) years) with intracranial dolichoectasia were retrospectively reviewed with regard to involved sites, arterial changes (maximum diameter, wall calcification, high signal intensity in the involved artery, as seen on T1-weighted MR images), infarction, hemorrhagic lesion, compression of brain parenchyma or cranial nerves, hydrocephalus and brain atrophy. Involved sites were classified as either type 1 (involvement of only the posterior circulation), type 2 (only the anterior circulation), or type 3 (both). In order of frequency, involved sites were type 1 (43%), type 3 (36%) and type 2 (22%). Dolichoectasia was more frequently seen in the posterior circulation (79%) than in the anterior (57%). Arterial changes as seen on T1-weighted MR images, included dolichoectasia (mean maximum diameter 7.4 mm in the distal internal carotid artery, and 6.7 mm in the basilar artery), wall calcification (100% in involved arteries) and high signal intensity in involved. Cerebral infarction in the territory of the involved artery was found in all patients, and a moderate degree of infarct was 87%. Hemorrhagic lesions were found in 19 patients (68%); these were either lobar (53%), petechial (37%), or subarachnoid (16%), and three patients showed intracranial aneurysms, including one case of dissecting aneurysm. In 19 patients (68%), lesions were compressed lesions by the dolichoectatic arteries, and were found-in order of descending frequency-in the medulla, pons, thalamus, and cerebellopontine angle cistern. Obstructive hydrocephalus was found in two patients (7%), and 23 (82%) showed a moderate degree of brain atrophy. In patients with intracranial dolichoectasia, moderate degrees of cerebral infarction and brain atrophy in the territory of involved arteries, as well as

  20. Danish retinoblastoma patients 1943-2013 - genetic testing and clinical implications

    DEFF Research Database (Denmark)

    Gregersen, Pernille A; Urbak, Steen F; Funding, Mikkel

    2015-01-01

    , the rate has been stable around 1 per 14 000 live births with 95% of the patients surviving their retinoblastoma. Stratifying data on the time of diagnosis and status of genetic testing, the number of screened patients gradually increased from 5% in the beginning of the period to 96% in the last five...... to offspring and elevated risk of second primary cancers, we recommend information and access to genetic counseling and RB1 screening. This has ethical, psychological and possible economic consequences, and should be handled with caution...

  1. Accuracy of pre-contrast imaging in abdominal magnetic resonance imaging of pediatric oncology patients

    International Nuclear Information System (INIS)

    Mohd Zaki, Faizah; Moineddin, Rahim; Grant, Ronald; Chavhan, Govind B.

    2016-01-01

    Safety concerns are increasingly raised regarding the use of gadolinium-based contrast media for MR imaging. To determine the accuracy of pre-contrast abdominal MR imaging for lesion detection and characterization in pediatric oncology patients. We included 120 children (37 boys and 83 girls; mean age 8.94 years) referred by oncology services. Twenty-five had MRI for the first time and 95 were follow-up scans. Two authors independently reviewed pre-contrast MR images to note the following information about the lesions: location, number, solid vs. cystic and likely nature. Pre- and post-contrast imaging reviewed together served as the reference standard. The overall sensitivity was 88% for the first reader and 90% for the second; specificity was 94% and 91%; positive predictive value was 96% and 94%; negative predictive value was 82% and 84%; accuracy of pre-contrast imaging for lesion detection as compared to the reference standard was 90% for both readers. The difference between mean number of lesions detected on pre-contrast imaging and reference standard was not significant for either reader (reader 1, P = 0.072; reader 2, P = 0.071). There was substantial agreement (kappa values of 0.76 and 0.72 for readers 1 and 2) between pre-contrast imaging and reference standard for determining solid vs. cystic lesion and likely nature of the lesion. The addition of post-contrast imaging increased confidence of both readers significantly (P < 0.0001), but the interobserver agreement for the change in confidence was poor (kappa 0.12). Pre-contrast abdominal MR imaging has high accuracy in lesion detection in pediatric oncology patients and shows substantial agreement with the reference standard for characterization of lesions. Gadolinium-based contrast media administration cannot be completely eliminated but can be avoided in many cases, with the decision made on a case-by-case basis, taking into consideration location and type of tumor. (orig.)

  2. Accuracy of pre-contrast imaging in abdominal magnetic resonance imaging of pediatric oncology patients

    Energy Technology Data Exchange (ETDEWEB)

    Mohd Zaki, Faizah [University of Toronto, Department of Diagnostic Imaging, The Hospital for Sick Children and Medical Imaging, Toronto, ON (Canada); Universiti Kebangsaan Malaysia Medical Center, Department of Radiology, Kuala Lumpur (Malaysia); Moineddin, Rahim [University of Toronto, Department of Family and Community Medicine, Toronto, ON (Canada); Grant, Ronald [University of Toronto, Department of Hematology and Oncology, The Hospital for Sick Children and Medical Imaging, Toronto, ON (Canada); Chavhan, Govind B. [University of Toronto, Department of Diagnostic Imaging, The Hospital for Sick Children and Medical Imaging, Toronto, ON (Canada)

    2016-11-15

    Safety concerns are increasingly raised regarding the use of gadolinium-based contrast media for MR imaging. To determine the accuracy of pre-contrast abdominal MR imaging for lesion detection and characterization in pediatric oncology patients. We included 120 children (37 boys and 83 girls; mean age 8.94 years) referred by oncology services. Twenty-five had MRI for the first time and 95 were follow-up scans. Two authors independently reviewed pre-contrast MR images to note the following information about the lesions: location, number, solid vs. cystic and likely nature. Pre- and post-contrast imaging reviewed together served as the reference standard. The overall sensitivity was 88% for the first reader and 90% for the second; specificity was 94% and 91%; positive predictive value was 96% and 94%; negative predictive value was 82% and 84%; accuracy of pre-contrast imaging for lesion detection as compared to the reference standard was 90% for both readers. The difference between mean number of lesions detected on pre-contrast imaging and reference standard was not significant for either reader (reader 1, P = 0.072; reader 2, P = 0.071). There was substantial agreement (kappa values of 0.76 and 0.72 for readers 1 and 2) between pre-contrast imaging and reference standard for determining solid vs. cystic lesion and likely nature of the lesion. The addition of post-contrast imaging increased confidence of both readers significantly (P < 0.0001), but the interobserver agreement for the change in confidence was poor (kappa 0.12). Pre-contrast abdominal MR imaging has high accuracy in lesion detection in pediatric oncology patients and shows substantial agreement with the reference standard for characterization of lesions. Gadolinium-based contrast media administration cannot be completely eliminated but can be avoided in many cases, with the decision made on a case-by-case basis, taking into consideration location and type of tumor. (orig.)

  3. Indium-111 leukocyte imaging in patients with rheumatoid arthritis

    International Nuclear Information System (INIS)

    Uno, K.; Matsui, N.; Nohira, K.

    1986-01-01

    This study evaluates the usefulness of labeled leukocyte imaging in patients with rheumatoid arthritis. In 33 patients, the incidence of pain and swelling in 66 wrist joints and 66 knee joints was compared with the accumulation of [ 111 In]leukocytes. No accumulation of [ 111 In]leukocytes was seen in any of the patients' wrists (0/12) or knee joints (0/14) when both pain and swelling were absent. In contrast, 93% (25/27) of wrist joints and 80% (24/30) of knee joints with both pain and swelling were positive by [ 111 In]leukocyte scintigraphy. There was little correlation between the stage of the disease, as determined by radiography, and [ 111 In]leukocyte accumulation. This study suggests that [ 111 In]leukocyte imaging may be a reliable procedure for monitoring the activity of rheumatoid arthritis, especially for confirming the lack of an ongoing inflammatory response

  4. Imaging diagnosis of alveolar echinococcosis in young patients

    International Nuclear Information System (INIS)

    Sasaki, F.; Ohkawa, Y.; Sato, N.; Uchino, J.; Hata, Y.

    1997-01-01

    We review the imaging findings in seven children with alveolar echinococcosis of the liver. Calcification was seen on plain abdominal films in five of seven patients (66.6 %); the calcifications were small or coarse with irregular margins. Ultrasound was performed in four cases, identifying the lesions in all four as small calcifications with or without cysts. Computed tomography (CT) was performed in four cases and showed small calcifications, calcifications surrounding a cyst, or an aggregate of calcifications. Angiography was performed in all seven patients and showed changes of intrahepatic arterial stretching, overgrowth of small arteries, and a honeycomb pattern in the capillary phase. Venography revealed compression of the inferior vena cava in two patients. Serum screening together with ultrasonography and CT are useful for diagnostic imaging of alveolar echinococcosis. (orig.). With 3 figs., 2 tabs

  5. Significance of MR imaging in patients with pulmonary hypertension

    International Nuclear Information System (INIS)

    Frank, H.; Globits, S.; Mayr, H.; Lang, I.; Kneussl, M.; Glogar, D.; Miczoch, J.; Neuhold, A.; Imhof, H.

    1989-01-01

    To determine the diagnostic impact of MR imaging in pulmonary hypertension (PH), the authors have examined 12 PH patients with a 0.5- or 1.5-T magnet in a double-angulation projection with multisection, multiphase technique and a gradient-echo sequence. MR data were evaluated for right ventricular volumes or function and compared with data from 10 control subjects. In PH patients, MR imaging showed right ventricular enlargement with hypertrophy, right atrial enlargement, and abnormal septal motion. Right ventricular (RV) function was compromised, with reduced RV circumferential shortening. PH patients had a severe reduction of long-axis shortening and variable reduction of short-axis shortening that correlated with the degree of PH (r = .68, P <.01)

  6. Genetically encoded calcium indicators for multi-color neural activity imaging and combination with optogenetics

    Directory of Open Access Journals (Sweden)

    Jasper eAkerboom

    2013-03-01

    Full Text Available Genetically encoded calcium indicators (GECIs are powerful tools for systems neuroscience. Here we describe red, single-wavelength GECIs, RCaMPs, engineered from circular permutation of the thermostable red fluorescent protein mRuby. High-resolution crystal structures of mRuby, the red sensor RCaMP, and the recently published red GECI R-GECO1 give insight into the chromophore environments of the Ca2+-bound state of the sensors and the engineered protein domain interfaces of the different indicators. We characterized the biophysical properties and performance of RCaMP sensors in vitro and in vivo in Caenorhabditis elegans, Drosophila larvae, and larval zebrafish. Further, we demonstrate 2-color calcium imaging both within the same cell (registering mitochondrial and somatic [Ca2+] and between two populations of cells: neurons and astrocytes. Finally, we perform integrated optogenetics experiments, wherein neural activation via channelrhodopsin-2 (ChR2 or a red-shifted variant, and activity imaging via RCaMP or GCaMP, are conducted simultaneously, with the ChR2/RCaMP pair providing independently addressable spectral channels. Using this paradigm, we measure calcium responses of naturalistic and ChR2-evoked muscle contractions in vivo in crawling C. elegans. We systematically compare the RCaMP sensors to R-GECO1, in terms of action potential-evoked fluorescence increases in neurons, photobleaching, and photoswitching. R-GECO1 displays higher Ca2+ affinity and larger dynamic range than RCaMP, but exhibits significant photoactivation with blue and green light, suggesting that integrated channelrhodopsin-based optogenetics using R-GECO1 may be subject to artifact. Finally, we create and test blue, cyan and yellow variants engineered from GCaMP by rational design. This engineered set of chromatic variants facilitates new experiments in functional imaging and optogenetics.

  7. Radiation myelopathy in over-irradiated patients: MR imaging findings

    International Nuclear Information System (INIS)

    Alfonso, E.R.; Gregorio, M.A. de; Mateo, P.; Esco, R.; Bascon, N.; Morales, F.; Bellosta, R.; Lopez, P.; Gimeno, M.; Roca, M.; Villavieja, J.L.

    1997-01-01

    The objective of this work is to report the MRI findings in patients with radiation myelopathy due to accidental local over-irradiation syndrome. Eight patients (seven males and one female) were suffering from over-irradiation syndrome as a result of treatments from a malfunctioning linear electron accelerator. The mean accidental estimated dose was 136 Gy delivered to the ''open-neck'' (seven cases) and to the thoracic wall (one case), during a mean of 5.4 sessions (range 1-9 sessions). Paresthesia and weakness in the upper extremities were the earliest symptoms (87.5 %), with evolution to paralysis in all patients. No patient is alive (mean survival time 64 days). In all cases MRI was negative for neurologic lesions in the acute phase (< 90 days from irradiation; Radiation Therapy Oncology Group scoring system). Late signs of radiation myelitis manifested as high-intensity signals on T2-weighted images in three patients, and as Gd-DTPA enhancement of T1-weighted images in one case. Autopsies performed on four patients who died in acute phase showed morphologic alterations in white matter: edema in 75 %, and necrosis and glial reaction as well as obliterative vasculitis in all cases. In cases of over-irradiation, MRI may be normal in acute phase even if the patients have severe neurologic deficit, as positive MRI findings appear only in delayed radiation myelitis. (orig.). With 3 figs., 2 tabs

  8. Radiation myelopathy in over-irradiated patients: MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Alfonso, E.R. [Radiology Service, Hospital Clinico Universitario, Zaragoza (Spain); Gregorio, M.A. de [Radiology Service, Hospital Clinico Universitario, Zaragoza (Spain); Mateo, P. [Radiation Oncology Service, Hospital Clinico Universitario, Zaragoza (Spain); Esco, R. [Radiation Oncology Service, Hospital Clinico Universitario, Zaragoza (Spain); Bascon, N. [Radiation Oncology Service, Hospital Clinico Universitario, Zaragoza (Spain); Morales, F. [Neurology Service, Hospital Clinico Universitario, Zaragoza (Spain); Bellosta, R. [Radiation Oncology Service, Hospital Clinico Universitario, Zaragoza (Spain); Lopez, P. [Radiation Oncology Service, Hospital Clinico Universitario, Zaragoza (Spain); Gimeno, M. [Hospital Miguel Servet, Zaragoza (Spain); Roca, M. [Radiology Service, Hospital Miguel Servet, E-50 009 Zaragoza (Spain); Villavieja, J.L. [Radiology Service, Hospital Clinico Universitario, Zaragoza (Spain)

    1997-04-01

    The objective of this work is to report the MRI findings in patients with radiation myelopathy due to accidental local over-irradiation syndrome. Eight patients (seven males and one female) were suffering from over-irradiation syndrome as a result of treatments from a malfunctioning linear electron accelerator. The mean accidental estimated dose was 136 Gy delivered to the ``open-neck`` (seven cases) and to the thoracic wall (one case), during a mean of 5.4 sessions (range 1-9 sessions). Paresthesia and weakness in the upper extremities were the earliest symptoms (87.5 %), with evolution to paralysis in all patients. No patient is alive (mean survival time 64 days). In all cases MRI was negative for neurologic lesions in the acute phase (< 90 days from irradiation; Radiation Therapy Oncology Group scoring system). Late signs of radiation myelitis manifested as high-intensity signals on T2-weighted images in three patients, and as Gd-DTPA enhancement of T1-weighted images in one case. Autopsies performed on four patients who died in acute phase showed morphologic alterations in white matter: edema in 75 %, and necrosis and glial reaction as well as obliterative vasculitis in all cases. In cases of over-irradiation, MRI may be normal in acute phase even if the patients have severe neurologic deficit, as positive MRI findings appear only in delayed radiation myelitis. (orig.). With 3 figs., 2 tabs.

  9. Patient repositioning in prostate conformal radiotherapy by image fusion

    International Nuclear Information System (INIS)

    Betrouni, Nacim

    2004-01-01

    This research thesis first proposes an overview of imaging modalities which are generally used in radiotherapy, and briefly presents operation principles for ultrasound scans, scanners and MRI. The issue of patient repositioning in radiotherapy is then introduced, and already proposed solutions are presented. In the next part, the author addresses space location and ultrasound-based location, with a brief overview of methods used to track the displacements of a mobile object, in this case an ultrasound probe, and calibration. Then, after a presentation of the adopted method, and a discussion of published works related to contour extraction and to filtering and noise reduction methods in ultrasound imagery, the author addresses the issue of prostate segmentation based on ultrasound images. The next part deals with image registration with an overview of available methods and tools. A method of registration of pre-operation images obtained by MRI or scanner, and of intra-operation ultrasound images is proposed for a real-time registration. This method is aimed at supporting patient repositioning during prostate conformal radiotherapy

  10. Precision Oncology and Genetic Risk Information: Exploring Patients' Preferences and Responses

    Science.gov (United States)

    Dr. Jada Hamilton is an Assistant Member at Memorial Sloan Kettering Cancer Center, as well as an Assistant Attending Psychologist in the Behavioral Sciences Service, Department of Psychiatry and Behavioral Sciences and in the Clinical Genetics Service, Department of Medicine at Memorial Hospital in New York, New York.  She leads a program of research at the intersection of behavioral science, cancer prevention, and genomics, with the goal of translating advances in genetic and genomic medicine into improved cancer care that is of high quality, aligned with patient preferences, and ultimately improves public health.  Dr. Hamilton is also currently leading a study to assess how patients and their families respond to inherited risk information that is revealed as part of tumor sequencing (funded through a Mentored Research Scholar Grant from the American Cancer Society), as well as studies to evaluate alternative models for offering genetic counseling and testing to patients with cancer, and to examine the effects of novel breast cancer genetic risk feedback on patients’ decision-making, psychological, and behavioral outcomes. Prior to joining the faculty of Memorial Sloan Kettering, Dr. Hamilton received a BA in Genetics and Psychology from Ohio Wesleyan University (2004), an MA and PhD in Social and Health Psychology from Stony Brook University (2006, 2009), and an MPH from the Mailman School of Public Health at Columbia University (2010).  She also completed a postdoctoral fellowship as part of the National Cancer Institute’s Cancer Prevention Fellowship Program.

  11. Analysis of patient setup accuracy using electronic portal imaging device

    International Nuclear Information System (INIS)

    Onogi, Yuzo; Aoki, Yukimasa; Nakagawa, Keiichi

    1996-01-01

    Radiation therapy is performed in many fractions, and accurate patient setup is very important. This is more significant nowadays because treatment planning and radiation therapy are more precisely performed. Electronic portal imaging devices and automatic image comparison algorithms let us analyze setup deviations quantitatively. With such in mind we developed a simple image comparison algorithm. Using 2459 electronic verification images (335 ports, 123 treatment sites) generated during the past three years at our institute, we evaluated the results of the algorithm, and analyzed setup deviations according to the area irradiated, use of a fixing device (shell), and arm position. Calculated setup deviation was verified visually and their fitness was classified into good, fair, bad, and incomplete. The result was 40%, 14%, 22%, 24% respectively. Using calculated deviations classified as good (994 images), we analyzed setup deviations. Overall setup deviations described in 1 SD along axes x, y, z, was 1.9 mm, 2.5 mm, 1.7 mm respectively. We classified these deviations into systematic and random components, and found that random error was predominant in our institute. The setup deviations along axis y (cranio-caudal direction) showed larger distribution when treatment was performed with the shell. Deviations along y (cranio-caudal) and z (anterior-posterior) had larger distribution when treatment occurred with the patient's arm elevated. There was a significant time-trend error, whose deviations become greater with time. Within all evaluated ports, 30% showed a time-trend error. Using an electronic portal imaging device and automatic image comparison algorithm, we are able to analyze setup deviations more precisely and improve setup method based on objective criteria. (author)

  12. Thyroid disease in the pediatric patient: emphasizing imaging with sonography

    Energy Technology Data Exchange (ETDEWEB)

    Babcock, Diane S. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2006-04-15

    Thyroid disease does occur in the pediatric patient, and imaging plays an important role in its evaluation. A review is presented of normal development of the thyroid gland, the technique and indications for thyroid sonography, and key imaging features of congenital thyroid disorders (ectopic or absent thyroid, infantile goiter, thyroglossal duct remnants), benign thyroid masses (follicular adenoma, degenerative nodules, colloid and thyroid cysts), malignant masses (follicular, papillary and medullary carcinoma) and diffuse thyroid disease (acute bacterial thyroiditis, Hashimoto's thyroiditis, Grave's disease). (orig.)

  13. Thallium imaging in management of post-revascularization patients

    International Nuclear Information System (INIS)

    Alazraki, N.; Krawczynska, E.

    1996-01-01

    The role of myocardial perfusion imaging in the evaluation of post revascularization patients has not been well defined. Published data with special emphasis on the results from the Emory Angioplasty versus Surgery Trial (EAST) indicate that the frequency of adverse cardiac events (death, MI, repeat revascularization) following PTCA or CABG is equal in symptomatic and asymptomatic patients with ischemic thallium defects. Current American Heart Association Guidelines recommend radionuclide studies only in symptomatic patients. Recently reported data support the need for non invasive testing in asymptomatic as well as symptomatic patients at 1 year postrevascularization. Prognostic variables including transient and permanent left ventricular dilatation and thallium lung uptake in addition to stress perfusion defect reversibility on myocardial thallium SPECT scans are important prognostic indicators in post revascularization patients

  14. Gene therapy imaging in patients for oncological applications

    International Nuclear Information System (INIS)

    Penuelas, Ivan; Haberkorn, Uwe; Yaghoubi, Shahriar; Gambhir, Sanjiv S.

    2005-01-01

    Thus far, traditional methods for evaluating gene transfer and expression have been shown to be of limited value in the clinical arena. Consequently there is a real need to develop new methods that could be repeatedly and safely performed in patients for such purposes. Molecular imaging techniques for gene expression monitoring have been developed and successfully used in animal models, but their sensitivity and reproducibility need to be tested and validated in human studies. In this review, we present the current status of gene therapy-based anticancer strategies and show how molecular imaging, and more specifically radionuclide-based approaches, can be used in gene therapy procedures for oncological applications in humans. The basis of gene expression imaging is described and specific uses of these non-invasive procedures for gene therapy monitoring illustrated. Molecular imaging of transgene expression in humans and evaluation of response to gene-based therapeutic procedures are considered. The advantages of molecular imaging for whole-body monitoring of transgene expression as a way to permit measurement of important parameters in both target and non-target organs are also analyzed. The relevance of this technology for evaluation of the necessary vector dose and how it can be used to improve vector design are also examined. Finally, the advantages of designing a gene therapy-based clinical trial with imaging fully integrated from the very beginning are discussed and future perspectives for the development of these applications outlined. (orig.)

  15. Donor leucocyte imaging in patients with AIDS: A preliminary report

    International Nuclear Information System (INIS)

    O'Doherty, M.J.; Kent and Canterbury Hospital; Revell, P.; Page, C.J.; Nunan, T.O.; Lee, S.; Mountford, P.J.

    1990-01-01

    Four patients with the acquired immunodeficiency syndrome (AIDS) and fever were investigated using donor leucocyte scans. The lung/liver and lung/spleen uptake ratios in these patients were compared with the uptake ratios in donor leucocyte scans in seven neutropenic (non-AIDS) patients and five patients who had autologous leucocyte scans performed over the same time period. All scans used indium oxine In 111 labelled leucocytes except that for one AIDS patient which used technetium hexamethyl-propylene amine oxide Tc99m labelled donor leucocytes. There were no adverse reactions to the donor cell infusions. Two patients had repeat studies 8 weeks apart (from different donors) without ill effect. There were no differences in the 111 In uptake ratios between the three groups. There were three positive studies in the patients with AIDS, and these elucidated the cause of the pyrexia in all three. The negative case is more difficult to confirm, but the clinical course and the absence of focal disease on post-mortem have been taken to support the scan findings. There was no difference in the acceptibility of the technique or the distribution of the labelled leucocytes between the AIDS and non-AIDS patients. Donor leucocyte imaging of patients with AIDS is probably more effective and considerably less hazardous for technical staff than autologous leucocyte methods. This study demonstrates that the technique can be applied successfully to patients with AIDS. (orig.)

  16. The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.

    Science.gov (United States)

    Funakoshi, Natalie; Chaze, Iphigénie; Alary, Anne-Sophie; Tachon, Gaëlle; Cunat, Séverine; Giansily-Blaizot, Muriel; Bismuth, Michael; Larrey, Dominique; Pageaux, Georges-Philippe; Schved, Jean-François; Donnadieu-Rigole, Hélène; Blanc, Pierre; Aguilar-Martinez, Patricia

    2016-05-01

    Iron overload (IO) in HFE-related hereditary haemochromatosis is associated with increased risk of liver cancer. This study aimed to investigate the role of other genes involved in hereditary IO among patients with hepatocellular carcinoma (HCC). Patients with HCC diagnosed in our institution were included in this prospective study. Those with ferritin levels ≥300 μg/L (males) or ≥200 μg/L (females) and/or transferrin saturation ≥50% (males) or ≥45% (females) had liver iron concentration (LIC) evaluated by MRI. HFE C282Y and H63D mutations were screened. Genetic analyses of genes involved in hereditary IO (HFE, HJV/HFE2, HAMP, TFR2, SLC40A1, GNPAT) were performed in patients with increased LIC. A total of 234 patients were included; 215 (92%) had common acquired risk factors of HCC (mainly alcoholism or chronic viral hepatitis). 119 patients had abnormal iron parameters. Twelve (5.1%) were C282Y homozygotes, three were compound C282Y/H63D heterozygotes. LIC was measured by MRI in 100 patients. Thirteen patients with a LIC>70 μmol/g were enrolled in further genetic analyses: two unrelated patients bore the HAMP:c.-153C>T mutation at the heterozygous state, which is associated with increased risk of IO and severe haemochromatosis. Specific haplotypes of SLC40A1 were also studied. Additional genetic risk factors of IO were found in 18 patients (7.7%) among a large series of 234 HCC patients. Screening for IO and the associated at-risk genotypes in patients who have developed HCC, is useful for both determining etiologic diagnosis and enabling family screening and possibly primary prevention in relatives. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

    Directory of Open Access Journals (Sweden)

    Teodora Chamova

    2015-01-01

    Full Text Available Congenital cataracts, facial dysmorphism, neuropathy (CCFDN syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

  18. SNCA 3'UTR genetic variants in patients with Parkinson's disease and REM sleep behavior disorder.

    Science.gov (United States)

    Toffoli, M; Dreussi, E; Cecchin, E; Valente, M; Sanvilli, N; Montico, M; Gagno, S; Garziera, M; Polano, M; Savarese, M; Calandra-Buonaura, G; Placidi, F; Terzaghi, M; Toffoli, G; Gigli, G L

    2017-07-01

    REM sleep behavior disorder (RBD) is an early marker of Parkinson's disease (PD); however, it is still unclear which patients with RBD will eventually develop PD. Single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of alpha-synuclein (SNCA) have been associated with PD, but at present, no data is available about RBD. The 3'UTR hosts regulatory regions involved in gene expression control, such as microRNA binding sites. The aim of this study was to determine RBD specific genetic features associated to an increased risk of progression to PD, by sequencing of the SNCA-3'UTR in patients with "idiopathic" RBD (iRBD) and in patients with PD. We recruited 113 consecutive patients with a diagnosis of iRBD (56 patients) or PD (with or without RBD, 57 patients). Sequencing of SNCA-3'UTR was performed on genomic DNA extracted from peripheral blood samples. Bioinformatic analyses were carried out to predict the potential effect of the identified genetic variants on microRNA binding. We found three SNCA-3'UTR SNPs (rs356165, rs3857053, rs1045722) to be more frequent in PD patients than in iRBD patients (p = 0.014, 0.008, and 0.008, respectively). Four new or previously reported but not annotated specific genetic variants (KP876057, KP876056, NM_000345.3:c*860T>A, NM_000345.3:c*2320A>T) have been observed in the RBD population. The in silico approach highlighted that these variants could affect microRNA-mediated gene expression control. Our data show specific SNPs in the SNCA-3'UTR that may bear a risk for RBD to be associated with PD. Moreover, new genetic variants were identified in patients with iRBD.

  19. [The role of genetic polymorphisms of interleukins in chronic lymphocytic leukemia in patients of different ages].

    Science.gov (United States)

    Sirotina, S S; Tikunova, T S; Proshchaev, K I; Efremova, O A; Batlutskaia, I V; Iakunchenko, T I; Sobianin, F I; Churnosov, M I; Alekseev, S M

    2014-01-01

    Chronic lymphocytic leukemia (CLL) is a multifactorial disease, in which development the important role played the cytokine genes, in particular interleukins. This type of leukemia is more common in the elderly. The purpose of the study was to evaluate the association of genetic polymorphisms of interleukin with the development of chronic lymphocytic leukemia among residents of the Central Chernozem region of Russia. Genotyping of the -889C/T IL-1A, -590C/T IL-4 and VNTR IL-1 Ra was conducted in 206 patients with CLL and 307 individuals of the control group. The study found that the genetic risk factor for the development of CLL is allele -590T IL-4 (OR=-1,45). The development of thrombocytopenia in patients with CLL is associated with genetic variants -889T IL-1A (OR=1,95), -889TT IL-1A (OR=6,2) and IL-1Ra*1 (OR=-2,32).

  20. Magnetic resonance imaging in patients with heart valve prostheses

    International Nuclear Information System (INIS)

    Bachmann, R.; Juengehuelsing, M.; Schicha, H.; Deutsch, H.J.; Sechtem, U.; Hilger, H.H.

    1991-01-01

    Artifical valve prostheses are often regarded as a contraindication for magnetic resonance imaging (MRI), although preliminary in vitro studies suggested, that patients with these metallic implants might safely undergo MR examination. This study reports on the experience with a group of 89 patients with 100 heart valve prostheses who were examined by spin-echo MR and gradient-echo MR. MR examination was performed in all patients without complications. The spin-echo sequence showed advantages in the depiction of anatomical structures like paravalvular abcesses. Anatomical structures adjacent to the artificial valve were clearly visivle and the metal components of the valves showes no or only small artifacts. Artifacts were accentuated when using gradient-echo sequences. Gradient-echo sequences provided valuable information regarding the presence of valvular insufficiency. Physiological valvular regurgitation was easy to differentiate from pathological paravalvular or transvalvular regurgitation. These results demonstrate that patients with artificial valve prostheses can be imaged by MR without risk and that prosthesis-induced artifacts do no interfere with image interpretation. (orig.) [de

  1. Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis.

    Science.gov (United States)

    Genoff Garzon, M C; Rubin, L R; Lobel, M; Stelling, J; Pastore, L M

    2017-11-09

    The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Thirteen reports were focused exclusively on a specific disease or condition. Five themes emerged: (1) patients motivated by prospects of a healthy, genetic-variant-free child, (2) PGD requires a commitment of time, money, energy and emotions, (3) patients concerned about logistics and ethics of discarding embryos, (4) some patients feel sense of responsibility to use available technologies, and (5) PGD decisions are complex for individuals and couples. Patient research on PGD decision-making processes has very infrequently used validated instruments, and the data collected through both quantitative and qualitative designs have been inconsistent. Future research for improving clinical counseling is needed to fill many gaps remaining in the literature regarding this decision-making process, and suggestions are offered. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Genetic heterogeneity in patients with Bartter syndrome type 1.

    Science.gov (United States)

    Sun, Mingran; Ning, Jing; Xu, Weihong; Zhang, Han; Zhao, Kaishu; Li, Wenfu; Li, Guiying; Li, Shibo

    2017-02-01

    Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss‑of‑function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. To date, 72 BS type 1 patients harboring SLC12A1 mutations have been documented. Of these 144 alleles studied, 68 different disease‑causing mutations have been detected in 129 alleles, and no mutation was detected in the remaining 15 alleles. The mutation types included missense/nonsense mutations, splicing mutations and small insertions and deletions ranging from 1 to 4 nucleotides. A large deletion encompassing a whole exon in the SLC12A1 gene has not yet been reported. The current study initially identified an undocumented homozygous frameshift mutation (c.1833delT) by Sanger sequencing analysis of a single infant with BS type 1. However, in a subsequent analysis, the mutation was detected only in the father's DNA. Upon further investigation using a next‑generation sequencing approach, a deletion in exons 14 and 15 in both the patient and patient's mother was detected. The deletion was subsequently confirmed by use of a long‑range polymerase chain reaction and was determined to be 3.16 kb in size based on sequencing of the junction fragment. The results of the present study demonstrated that pathogenic variants of SLC12A1 are heterogeneous. Large deletions appear to serve an etiological role in BS type 1, and may be more prevalent than previously thought.

  3. Emotional distress in patients undergoing Magnetic Resonance Imaging

    International Nuclear Information System (INIS)

    Mozzolillo, R.; Ercolani, P.; Giovagnoni, A.; Denigris, E.; Barbini, N.; Mariani, L.; Nardi, B.; Cotani, P.; Marchesi, G.F.

    1991-01-01

    MR imaging, like other imaging techniques, can cause emotional and psychological reactions in the patients. Although reversible, these reactions sometimes lead the patient to absolutely refuse the examination or to make it impossible to carry it through. To investigate the patients' emotional distress, a study group pf 28 subjects was examinated. They were heterogeneous in sex, age, and pathologic condition. The main psycological reactions were analyzed, and anxiety-both of state and of trait. The anxiety parameter was evaluated as a specific index in the psycho-behavioral modifications induced by MR examination. The influence was also considered of the 'fantasies' related to examination results on the patients' psyche. Talks and STAI X1 and STAI X2 were employed to this purpose, to identifi possible disturbing elements related to both patients' character and examination situations. Our results point to anxiety as the mayor reaction observed in the subjects undergoing MR examination; it seems to be related to different parameters, which are difficult to identify. Claustrophobia, pathophobia, and the fear of an unknown examination play a mayor role. Talking to the patients and informing them of the characteristics of the examination proved useful to significantly reduce their emotional distress

  4. Gingival squamous cell carcinoma: imaging analysis of seven patients

    International Nuclear Information System (INIS)

    Souza, Ricardo Pires de; Moreira, Paulo de Tarso Barbosa; Paes Junior, Ademar Jose de Oliveira; Pacheco Netto, Mario C.; Rapoport, Abrao; Soares, Aldemir Humberto

    2003-01-01

    The authors studied seven patients with gingival carcinoma attended at the Head and Neck Surgery and Otorrhinolaryngology Service and the Diagnostic Imaging Service of 'Complexo Hospitalar Heliopolis', Sao Paulo, SP, Brazil, between 1985 and 1996. Squamous cell type carcinomas were identified in all cases. All patients were male (100%) aged 48-72 years. Computed tomography was performed in six patients (85.6%). Four patients (57.1%) had not received any treatment before imaging examination whereas three patients (42.8%) had already been submitted to surgery or radiotherapy. The authors analyzed the primary site of the tumor and its extension to the mandible (5/7 cases; 71.4%), the floor of the mouth (3/7 cases; 42.8%), the floor of the maxillary sinus (1/7 cases; 14.2%) and the retromolar trigonum (1/7 cases; 14.2%). Metastatic lymph nodes were observed in five patients (71.4%). Diagnosis was confirmed by biopsy and histopathological examination in all cases. Comparison with surgical findings was possible in five cases (71.4%). (author)

  5. [Assisted Reproduction and Preimplantation Genetic Diagnosis in Patients Susceptible to Breast Cancer].

    Science.gov (United States)

    Veselá, K; Kocur, T; Horák, J; Horňák, M; Oráčová, E; Hromadová, L; Veselý, J; Trávník, P

    2016-01-01

    Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treatment. In the second part of this review, we focus on karyomapping--an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span.

  6. Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles

    DEFF Research Database (Denmark)

    Mero, Inger-Lise; Gustavsen, Marte W; Sæther, Hanne S

    2013-01-01

    The presence of oligoclonal bands (OCB) in cerebrospinal fluid (CSF) is a typical finding in multiple sclerosis (MS). We applied data from Norwegian, Swedish and Danish (i.e. Scandinavian) MS patients from a genome-wide association study (GWAS) to search for genetic differences in MS relating...

  7. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

    OpenAIRE

    Cetica, Valentina; Sieni, Elena; Pende, Daniela; Danesino, Cesare; De Fusco, Carmen; Locatelli, Franco; Micalizzi, Concetta; Putti, Maria Caterina; Biondi, Andrea; Fagioli, Franca; Moretta, Lorenzo; Griffiths, Gillian M.; Luzzatto, Lucio; Aric?, Maurizio

    2016-01-01

    Background Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease affecting mostly children but also adults and characterized by hyperinflammatory features. A subset of patients, referred to as having familial hemophagocytic lymphohistiocytosis (FHL), have various underlying genetic abnormalities, the frequencies of which have not been systematically determined previously. Objective This work aims to further our understanding of the pathogenic bases of this ra...

  8. Are patient specific meshes required for EIT head imaging?

    Science.gov (United States)

    Jehl, Markus; Aristovich, Kirill; Faulkner, Mayo; Holder, David

    2016-06-01

    Head imaging with electrical impedance tomography (EIT) is usually done with time-differential measurements, to reduce time-invariant modelling errors. Previous research suggested that more accurate head models improved image quality, but no thorough analysis has been done on the required accuracy. We propose a novel pipeline for creation of precise head meshes from magnetic resonance imaging and computed tomography scans, which was applied to four different heads. Voltages were simulated on all four heads for perturbations of different magnitude, haemorrhage and ischaemia, in five different positions and for three levels of instrumentation noise. Statistical analysis showed that reconstructions on the correct mesh were on average 25% better than on the other meshes. However, the stroke detection rates were not improved. We conclude that a generic head mesh is sufficient for monitoring patients for secondary strokes following head trauma.

  9. Optimization of image quality and patient dose in mammography

    International Nuclear Information System (INIS)

    Shafqat Faaruq; Jaferi, R.A.; Nafeesa Nazlee

    2007-01-01

    Complete test of publication follows. Optimization of patient dose and image quality can be defined as to get the best image quality with minimum possible radiation dose to the patient by setting various parameters and modes of operation available in mammography machines. The optimization procedures were performed on two mammography units from M/S GE and Metaltronica, available at NORI, using standard mammographic accreditation phantom (Model: BR-156) and acrylic sheets of variable thicknesses. Quality assurance and quality control (QC) tests being the essential part of optimization. The QC tests as recommended by American College of Radiology, were first performed on both machines as well as X-ray film processor. In the second step, different affecting the image quality and radiation dose to patient, like film screen combination (FSC), phantom optical density (PD), kVp, mAs etc, were adjusted for various phantom thicknesses ranging from 3 cm to 6.5 cm in various modes of operation in the machines (semi-auto- and manual in GE, Auto-, semi-auto- and manual mode in Metaltronica). The image quality was studied for these optimized parameters on the basis of the number of test objects of the phantom visible in these images. Finally the linear relationship between mAs and skin entrance dose (mGy) was verified using ionization chamber with the phantom and the actual patients. Despite some practical limitations, the results of the quality assurance tests were within acceptable limits defined by ACR. The dose factor for GE was 68.0 y/mAs, while 76.0 mGy/mAs for Metaltronica at 25 kVp. Before the start of this study the only one mammography unit GE, was routinely used at NORI and normal mode of operation of this unit was semi-auto mode with fixed kVp independent of compressed breast thickness, but in this study it was concluded that selecting kVp according to beast thickness result in an appreciable dose reduction (4-5 times less) without any compromise in image quality. The

  10. Alpha-thalassemia genetic testing: an important anemia diagnostic tool in patients of African heritage.

    Science.gov (United States)

    Dasanu, Constantin A

    2010-01-01

    Inherited alpha-thalassemia genotypes have been shown to have a rather high prevalence in some patient populations of African heritage. These genotypes lead to mild anemia with microcytic indices and a normal hemoglobin electrophoresis. In our outpatient department, we analyzed 54 consecutive patients of African descent with longstanding microcytic anemia, but no evidence of iron deficiency. We detected alpha-thalassemia gene deletions in 94 percent of these patients. Alpha-thalassemia genetic testing appears cost-effective in an otherwise unexplained, longstanding microcytic anemia in patients of African origin.

  11. Spectral CT imaging in patients with Budd-Chiari syndrome: investigation of image quality.

    Science.gov (United States)

    Su, Lei; Dong, Junqiang; Sun, Qiang; Liu, Jie; Lv, Peijie; Hu, Lili; Yan, Liangliang; Gao, Jianbo

    2014-11-01

    To assess the image quality of monochromatic imaging from spectral CT in patients with Budd-Chiari syndrome (BCS), fifty patients with BCS underwent spectral CT to generate conventional 140 kVp polychromatic images (group A) and monochromatic images, with energy levels from 40 to 80, 40 + 70, and 50 + 70 keV fusion images (group B) during the portal venous phase (PVP) and the hepatic venous phase (HVP). Two-sample t tests compared vessel-to-liver contrast-to-noise ratio (CNR) and signal-to-noise ratio (SNR) for the portal vein (PV), hepatic vein (HV), inferior vena cava. Readers' subjective evaluations of the image quality were recorded. The highest SNR values in group B were distributed at 50 keV; the highest CNR values in group B were distributed at 40 keV. The higher CNR values and SNR values were obtained though PVP of PV (SNR 18.39 ± 6.13 vs. 10.56 ± 3.31, CNR 7.81 ± 3.40 vs. 3.58 ± 1.31) and HVP of HV (3.89 ± 2.08 vs. 1.27 ± 1.55) in the group B; the lower image noise for group B was at 70 keV and 50 + 70 keV (15.54 ± 8.39 vs. 18.40 ± 4.97, P = 0.0004 and 18.97 ± 7.61 vs. 18.40 ± 4.97, P = 0.0691); the results show that the 50 + 70 keV fusion image quality was better than that in group A. Monochromatic energy levels of 40-70, 40 + 70, and 50 + 70 keV fusion image can increase vascular contrast and that will be helpful for the diagnosis of BCS, we select the 50 + 70 keV fusion image to acquire the best BCS images.

  12. Genetic ancestry analysis in non-alcoholic fatty liver disease patients from Brazil and Portugal.

    Science.gov (United States)

    Cavalcante, Lourianne Nascimento; Stefano, Jose Tadeu; Machado, Mariana V; Mazo, Daniel F; Rabelo, Fabiola; Sandes, Kiyoko Abe; Carrilho, Flair José; Cortez-Pinto, Helena; Lyra, Andre Castro; de Oliveira, Claudia P

    2015-06-08

    To study the association between genetic ancestry, non-alcoholic fatty liver disease (NAFLD) metabolic characteristics in two cohorts of patients, from Brazil and Portugal. We included 131 subjects from Brazil [(n = 45 with simple steatosis (S. Steatosis) and n = 86 with nonalcoholic steatohepatitis (NASH)] and 90 patients from Portugal (n = 66, S. Steatosis; n = 24, NASH). All patients had biopsy-proven NAFLD. In histologic evaluation NAFLD activity score was used to assess histology and more than 5 points defined NASH in this study. Patients were divided into two groups according to histology diagnosis: simple steatosis or non-alcoholic statohepatitis. Genetic ancestry was assessed using real-time polymerase chain reaction. Seven ancestry informative markers (AT3-I/D, LPL, Sb19.3, APO, FY-Null, PV92, and CKMM) with the greatest ethnic-geographical differential frequencies (≥ 48%) were used to define genetic ancestry. Data were analyzed using R PROJECTS software. Ancestry allele frequencies between groups were analyzed by GENEPOP online and the estimation of genetic ancestry contribution was evaluated by ADMIX-95 software. The 5% alpha-error was considered as significant (P 2.5 [NASH 5.3 (70.8%) vs S. Steatosis 4.6 (29.2%) P = 0.04]. In the Portuguese study population, dyslipidemia was present in all patients with NASH (P = 0.03) and hypertension was present in a larger percentage of subjects in the S. Steatosis group (P = 0.003, respectively). The genetic ancestry contribution among Brazilian and Portuguese individuals with NASH was similar to those with S. Steatosis from each cohort (Brazilian cohort: P = 0.75; Portuguese cohort: P = 0.97). Nonetheless, the genetic ancestry contribution of the Brazilian and Portuguese population were different, and a greater European and Amerindian ancestry contribution was detected in the Portuguese population while a higher African genetic ancestry contribution was observed in Brazilian population of both NASH and S

  13. Genetic ancestry analysis in non-alcoholic fatty liver disease patients from Brazil and Portugal

    Science.gov (United States)

    Cavalcante, Lourianne Nascimento; Stefano, Jose Tadeu; Machado, Mariana V; Mazo, Daniel F; Rabelo, Fabiola; Sandes, Kiyoko Abe; Carrilho, Flair José; Cortez-Pinto, Helena; Lyra, Andre Castro; de Oliveira, Claudia P

    2015-01-01

    AIM: To study the association between genetic ancestry, non-alcoholic fatty liver disease (NAFLD) metabolic characteristics in two cohorts of patients, from Brazil and Portugal. METHODS: We included 131 subjects from Brazil [(n = 45 with simple steatosis (S. Steatosis) and n = 86 with nonalcoholic steatohepatitis (NASH)] and 90 patients from Portugal (n = 66, S. Steatosis; n = 24, NASH). All patients had biopsy-proven NAFLD. In histologic evaluation NAFLD activity score was used to assess histology and more than 5 points defined NASH in this study. Patients were divided into two groups according to histology diagnosis: simple steatosis or non-alcoholic statohepatitis. Genetic ancestry was assessed using real-time polymerase chain reaction. Seven ancestry informative markers (AT3-I/D, LPL, Sb19.3, APO, FY-Null, PV92, and CKMM) with the greatest ethnic-geographical differential frequencies (≥ 48%) were used to define genetic ancestry. Data were analyzed using R PROJECTS software. Ancestry allele frequencies between groups were analyzed by GENEPOP online and the estimation of genetic ancestry contribution was evaluated by ADMIX-95 software. The 5% alpha-error was considered as significant (P 2.5 [NASH 5.3 (70.8%) vs S. Steatosis 4.6 (29.2%) P = 0.04]. In the Portuguese study population, dyslipidemia was present in all patients with NASH (P = 0.03) and hypertension was present in a larger percentage of subjects in the S. Steatosis group (P = 0.003, respectively). The genetic ancestry contribution among Brazilian and Portuguese individuals with NASH was similar to those with S. Steatosis from each cohort (Brazilian cohort: P = 0.75; Portuguese cohort: P = 0.97). Nonetheless, the genetic ancestry contribution of the Brazilian and Portuguese population were different, and a greater European and Amerindian ancestry contribution was detected in the Portuguese population while a higher African genetic ancestry contribution was observed in Brazilian population of both NASH

  14. Using a patient image archive to diagnose retinopathy

    Energy Technology Data Exchange (ETDEWEB)

    Tobin Jr, Kenneth William [ORNL; Abramoff, M.D. [University of Iowa; Chaum, Edward [University of Tennessee, Knoxville (UTK); Giancardo, Luca [ORNL; Govindaswamy, Priya [Oak Ridge National Laboratory (ORNL); Karnowski, Thomas Paul [ORNL; Tennant, M [University of Alberta; Swainson, Stephen [University of Alberta

    2008-01-01

    Diabetes has become an epidemic that is expected to impact 365 million people worldwide by 2025. Consequently, diabetic retinopathy is the leading cause of blindness in the industrialized world today. If detected early, treatments can preserve vision and significantly reduce debilitating blindness. Through this research we are developing and testing a method for automating the diagnosis of retinopathy in a screening environment using a patient archive and digital fundus imagery. We present an overview of our content-based image retrieval (CBIR) approach and provide performance results for a dataset of 98 images from a study in Canada when compared to an archive of 1,355 patients from a study in the Netherlands. An aggregate performance of 89% correct diagnosis is achieved, demonstrating the potential of automated, web-based diagnosis for a broad range of imagery collected under different conditions and with different cameras.

  15. IR imaging of blood circulation of patients with vascular disease

    Science.gov (United States)

    Wang, Hsin; Wade, Dwight R., Jr.; Kam, Jack

    2004-04-01

    We conducted a preliminary IR imaging study of blood circulation in patients with peripheral vascular diseases. Abnormal blood flow is common in older adults, especially those with elevated blood lipids, diabetes, hypertension, and a history of smoking. All of these conditions have a high prevalence in our population, often with more than one condition in the same individual. The differences in blood flow is revealed by temperature differences in areas of the extremities as well as other regions of the body. However, what is needed is an imaging technique that is relatively inexpensive and can reveal the blood flow in real time. The IR imaging can show detailed venous system and small tempearture changes associated with blood flow. Six patients with vascular diseases were tested in a clinic set up. Their legs and feet were imaged. We observed large temperature differences (cooling of more than 10° C) at the foot, especially toes. More valuable information were obtained from the temperature distribution maps. IR thermography is potentially a very valuable tool for medical application, especially for vascular diseases.

  16. Two-dimensional fusion imaging of planar bone scintigraphy and radiographs in patients with clinical scaphoid fracture: an imaging study

    DEFF Research Database (Denmark)

    Henriksen, Otto Mølby; Lonsdale, Markus Georg; Jensen, T D

    2009-01-01

    . Bone scintigraphy is highly sensitive for the detection of fractures, but exact localization of scintigraphic lesions may be difficult and can negatively affect diagnostic accuracy. PURPOSE: To investigate the influence of image fusion of planar bone scintigraphy and radiographs on image interpretation......BACKGROUND: Although magnetic resonance imaging (MRI) is now considered the gold standard in second-line imaging of patients with suspected scaphoid fracture and negative radiographs, bone scintigraphy can be used in patients with pacemakers, metallic implants, or other contraindications to MRI....... CONCLUSION: Image fusion of planar bone scintigrams and radiographs has a significant influence on image interpretation and increases both diagnostic confidence and interobserver agreement....

  17. Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.

    Science.gov (United States)

    Goulielmos, George N; Zervou, Maria I; Myrthianou, Effie; Burska, Agata; Niewold, Timothy B; Ponchel, Frederique

    2016-06-01

    Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Diffusion-Weighted MR Imaging of Unusual White Matter Lesion in a Patient with Menkes Disease

    International Nuclear Information System (INIS)

    Lee, Eun Shin; Ryoo, Jae Wook; Choi, Dae Seob; Cho, Jae Min; Kwon, Soo Hyun; Shin, Hee Suk

    2007-01-01

    We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in the deep periventricular white matter in the absence of diffuse cortical atrophy. The lesion showed diffuse high signal on the diffusion weighted images and diffuse progression and persistent hyperintensity on the follow up imaging. Our case suggests that the white matter lesion may precede diffuse cortical atrophy in a patient with Menkes disease. Menkes disease is an X-linked disorder that's caused by impaired intracellular transport of copper. We describe here the DWI findings of unusual and progressive white matter lesions in a case of Menkes disease. Menkes disease is an X-linked recessive disorder, and it is due to an inborn error of copper metabolism. The cause of Menkes disease has been isolated to a genetic defect in copper-transporting adenosine triphosphatase, and this results in low levels of intracellular copper. It is characterized clinically by failure to thrive, retarded mental and motor development, clonic seizure and peculiarly coarse, sparse and colorless scalp hair. These clinical findings can be explained by a dysfunction of the copper-dependent enzymes

  19. Errors in imaging patients in the emergency setting.

    Science.gov (United States)

    Pinto, Antonio; Reginelli, Alfonso; Pinto, Fabio; Lo Re, Giuseppe; Midiri, Federico; Muzj, Carlo; Romano, Luigia; Brunese, Luca

    2016-01-01

    Emergency and trauma care produces a "perfect storm" for radiological errors: uncooperative patients, inadequate histories, time-critical decisions, concurrent tasks and often junior personnel working after hours in busy emergency departments. The main cause of diagnostic errors in the emergency department is the failure to correctly interpret radiographs, and the majority of diagnoses missed on radiographs are fractures. Missed diagnoses potentially have important consequences for patients, clinicians and radiologists. Radiologists play a pivotal role in the diagnostic assessment of polytrauma patients and of patients with non-traumatic craniothoracoabdominal emergencies, and key elements to reduce errors in the emergency setting are knowledge, experience and the correct application of imaging protocols. This article aims to highlight the definition and classification of errors in radiology, the causes of errors in emergency radiology and the spectrum of diagnostic errors in radiography, ultrasonography and CT in the emergency setting.

  20. Extraskeletal mesenchymal chondrosarcoma: an imaging review of ten new patients

    Energy Technology Data Exchange (ETDEWEB)

    Hashimoto, N.; Joyama, S.; Araki, N. [Osaka Medical Center for Cancer and Cardiovascular Disease, Department of Orthopedic Surgery, Osaka (Japan); Ueda, T.; Yoshikawa, H. [Osaka University Graduate School of Medicine, Department of Orthopedic Surgery, Osaka (Japan); Beppu, Y. [National Cancer Center Hospital, Department of Orthopedic Surgery, Tokyo (Japan); Tatezaki, S. [Chiba Cancer Center Hospital, Department of Orthopedic Surgery, Chiba (Japan); Matsumoto, S. [Cancer Institute Hospital, Japanese Foundation for Cancer Research Hospital, Department of Orthopedic Surgery, Tokyo (Japan); Nakanishi, K. [Osaka Seamen' s Insurance Hospital, Department of Radiology, Osaka (Japan); Tomita, Y. [Osaka University Graduate School of Medicine, Department of Pathology, Osaka (Japan)

    2005-12-01

    Extraskeletal mesenchymal chondrosarcoma (EMC) is a rare soft-tissue tumor that most arises in young adults. Because of its rarity, few imaging studies have been reported to date. The purpose of this study was to elucidate the imaging features of this tumor. We conducted a multi-institutional study in cooperation with five referral cancer centers in Japan. Imaging findings of ten new EMC cases, including conventional radiography, computed tomography (CT), and magnetic resonance imaging (MRI), performed at each institute, were reviewed along with clinical features. Ten patients with EMC, who had been treated at each hospital from 1990 to 2001, participated in this study. Soft-tissue masses with well-demarcated, dense and granular calcification were most frequently observed on plain radiographs and CT scans. T2-weighted MR images most clearly depicted a two-component structure composed of calcified and uncalcified areas, and enhanced MRI showed inhomogeneous enhancement in both areas. Although the sensitivity and specificity of these findings are unknown, they might be characteristic and have diagnostic value for this rare tumor. (orig.)

  1. Genetic, pathological and physiological determinants of transdermal fentanyl pharmacokinetics in 620 cancer patients of the EPOS study

    DEFF Research Database (Denmark)

    Barratt, Daniel T; Bandak, Benedikte; Klepstad, Pål

    2014-01-01

    This study aimed to investigate whether CYP3A4/5 genetic variants, together with clinical and patient factors, influence serum fentanyl and norfentanyl concentrations and their ratio in cancer pain patients receiving transdermal fentanyl....

  2. Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

    Science.gov (United States)

    Niaz, Talha; Poterucha, Joseph T; Olson, Timothy M; Johnson, Jonathan N; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J

    2018-02-01

    In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review. A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006). Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

  3. Diffusion-weighted imaging in patients with progressive multifocal leukoencephalopathy

    Energy Technology Data Exchange (ETDEWEB)

    Cosottini, M. [University of Pisa, Department of Neuroscience, Pisa (Italy); Service of Neuroradiology AO, Pisa (Italy); Tavarelli, C.; De Cori, S.; Bartolozzi, C. [University of Pisa, Department of Radiology, Pisa (Italy); Del Bono, L.; Doria, G. [Unit of Infectious Diseases AO, Pisa (Italy); Giannelli, M. [Unit of Medical Physics, Pisa (Italy); Michelassi, M.C. [Service of Neuroradiology AO, Pisa (Italy); Murri, L. [University of Pisa, Department of Neuroscience, Pisa (Italy)

    2008-05-15

    Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease of the central nervous system due to JC polyoma virus infection of oligodendrocytes. PML develops in patients with impaired T-cell function as occurs in HIV, malignancy or immunosuppressive drugs users. Until now no imaging methods have been reported to correlate with clinical status. Diffusion-weighted imaging (DWI) is a robust MRI tool in investigating white matter architecture and diseases. The aim of our work was to assess diffusion abnormalities in focal white matter lesions in patients with PML and to correlate the lesion load measured with conventional MRI and DWI to clinical variables. We evaluated eight patients with a biopsy or laboratory-supported diagnosis of PML. All patients underwent MRI including conventional sequences (fluid attenuated inversion recovery-FLAIR) and DWI. Mean diffusivity (MD) maps were used to quantify diffusion on white matter lesions. Global lesion load was calculated by manually tracing lesions on FLAIR images, while total, central core and peripheral lesion loads were calculated by manually tracing lesions on DWI images. Lesion load obtained with the conventional or DWI-based methods were correlated with clinical variables such as disease duration, disease severity and survival. White matter focal lesions are characterized by a central core with low signal on DWI images and high MD (1.853 x 10{sup -3} mm2/s), surrounded by a rim of high signal intensity on DWI and lower MD (1.1 x 10{sup -3} mm2/s). The MD value of normal-appearing white matter is higher although not statistically significant (0.783 x 10{sup -3} mm2/s) with respect to control subjects (0.750 x 10{sup -3} mm2/s). Inter-rater correlations of global lesion load between FLAIR (3.96%) and DWI (3.43%) was excellent (ICC =0.87). Global lesion load on FLAIR and DWI correlates with disease duration and severity (respectively, p = 0.037, p = 0.0272 with Karnofsky scale and p = 0.0338 with

  4. Patient-centered image and data management in radiation oncology

    International Nuclear Information System (INIS)

    Steil, Volker; Schneider, Frank; Kuepper, Beate; Wenz, Frederik; Lohr, Frank; Weisser, Gerald

    2009-01-01

    Background: recent changes in the radiotherapy (RT) workflow through the introduction of complex treatment paradigms such as intensity-modulated radiotherapy (IMRT) and, recently, image-guided radiotherapy (IGRT) with their increase in data traffic for different data classes have mandated efforts to further integrate electronic data management for RT departments in a patient- and treatment-course-centered fashion. Methods: workflow in an RT department is multidimensional and multidirectional and consists of at least five different data classes (RT/machine data, patient-related documents such as reports and letters, progress notes, DICOM (Digital Imaging and Communications in Medicine) image data, and non-DICOM image data). Data has to be handled in the framework of adaptive feedback loops with increasing frequency. This is in contrast to a radiology department where mainly DICOM image data and reports have to be widely accessible but are dealt with in a mainly unidirectional manner. When compared to a diagnostic Radiology Information System (RIS)/Picture Archiving and Communication System (PACS), additional legal requirements have to be conformed to when an integrated electronic RT data management system is installed. Among these are extended storage periods, documentation of treatment plan approval by physicians and physicist, documentation of informed consent, etc. Conclusion: since the transition to a paper- and filmless environment in medicine and especially m radiation ''neology is unavoidable this review discusses these issues and suggests a possible hardware and organizational architecture of an RT department information system under control of a Hospital Information System (HIS), based on combined features of genuine RT Record and Verify (R and V) Systems, PACS, and Electronic Medical Records (EMR). (orig.)

  5. In vivo bioluminescence imaging using orthotopic xenografts towards patient's derived-xenograft Medulloblastoma models.

    Science.gov (United States)

    Asadzadeh, Fatemeh; Ferrucci, Veronica; DE Antonellis, Pasqualino; Zollo, Massimo

    2017-03-01

    Medulloblastoma is a cerebellar neoplasia of the central nervous system. Four molecular subgrups have been identified (MBWNT, MBSHH, MBgroup3 and MBgroup4) with distinct genetics and clinical outcome. Among these, MBgroup3-4 are highly metastatic with the worst prognosis. The current standard therapy includes surgery, radiation and chemotherapy. Thus, specific treatments adapted to cure those different molecular subgroups are needed. The use of orthotopic xenograft models, together with the non-invasive in vivo biolumiscence imaging (BLI) technology, is emerging during preclinical studies to test novel therapeutics for medulloblastoma treatment. Orthotopic MB xenografts were performed by injection of Daoy-luc cells, that had been previously infected with lentiviral particles to stably express luciferase gene, into the fourth right ventricle of the cerebellum of ten nude mice. For the implantation, specific stereotactic coordinates were used. Seven days after the implantation the mice were imaged by acquisitions of bioluminescence imaging (BLI) using IVIS 3D Illumina Imaging System (Xenogen). Tumor growth was evaluated by quantifying the bioluminescence signals using the integrated fluxes of photons within each area of interest using the Living Images Software Package 3.2 (Xenogen-Perkin Elmer). Finally, histological analysis using hematoxylin-eosin staining was performed to confirm the presence of tumorigenic cells into the cerebellum of the mice. We describe a method to use the in vivo bioluminescent imaging (BLI) showing the potential to be used to investigate the potential antitumorigenic effects of a drug for in vivo medulloblastoma treatment. We also discuss other studies in which this technology has been applied to obtain a more comprehensive knowledge of medulloblastoma using orthotopic xenograft mouse models. There is a need to develop patient's derived-xenograft (PDX) model systems to test novel drugs for medulloblastoma treatment within each molecular sub

  6. Pituitary imaging findings in male patients with hypogonadotrophic hypogonadism.

    Science.gov (United States)

    Hirsch, Dania; Benbassat, Carlos; Toledano, Yoel; S'chigol, Irena; Tsvetov, Gloria; Shraga-Slutzky, Ilana; Eizenberg, Yoav; Shimon, Ilan

    2015-08-01

    Data on pituitary imaging in adult male patients presenting with hypogonadotrophic hypogonadism (HH) and no known pituitary disease are scarce. To assess the usefulness of pituitary imaging in the evaluation of men presenting with HH after excluding known pituitary disorders and hyperprolactinemia. A historical prospective cohort of males with HH. Men who presented for endocrine evaluation from 2011 to 2014 with testosterone levels pituitary disease. Seventy-five men were included in the analysis. Their mean age and BMI were 53.4 ± 14.8 years and 30.7 ± 5.2 kg/m2, respectively. Mean total testosterone, LH, and FSH were 6.2 ± 1.7 nmol/L, 3.4 ± 2 and 4.7 ± 3.1 mIU/L, respectively. Prolactin level within the normal range was obtained in all men (mean 161 ± 61, range 41-347 mIU/L). Sixty-two men had pituitary MRI and 13 performed CT. In 61 (81.3%) men pituitary imaging was normal. Microadenoma was found in 8 (10.7%), empty sella and thickened pituitary stalk in one patient (1.3%) each. In other four patients (5.3%) a small or mildly asymmetric pituitary gland was noted. No correlation was found between testosterone level and the presence of pituitary anomalies. This study suggests that the use of routine hypothalamic-pituitary imaging in the evaluation of IHH, in the absence of clinical characteristics of other hormonal loss or sellar compression symptoms, will not increase the diagnostic yield of sellar structural abnormalities over that reported in the general population.

  7. Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

    International Nuclear Information System (INIS)

    Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

    2012-01-01

    Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

  8. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

    Science.gov (United States)

    Cetica, Valentina; Sieni, Elena; Pende, Daniela; Danesino, Cesare; De Fusco, Carmen; Locatelli, Franco; Micalizzi, Concetta; Putti, Maria Caterina; Biondi, Andrea; Fagioli, Franca; Moretta, Lorenzo; Griffiths, Gillian M; Luzzatto, Lucio; Aricò, Maurizio

    2016-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease affecting mostly children but also adults and characterized by hyperinflammatory features. A subset of patients, referred to as having familial hemophagocytic lymphohistiocytosis (FHL), have various underlying genetic abnormalities, the frequencies of which have not been systematically determined previously. This work aims to further our understanding of the pathogenic bases of this rare condition based on an analysis of our 25 years of experience. From our registry, we have analyzed a total of 500 unselected patients with HLH. Biallelic pathogenic mutations defining FHL were found in 171 (34%) patients; the proportion of FHL was much higher (64%) in patients given a diagnosis during the first year of life. Taken together, mutations of the genes PRF1 (FHL2) and UNC13D (FHL3) accounted for 70% of cases of FHL. Overall, a genetic diagnosis was possible in more than 90% of our patients with FHL. Perforin expression and the extent of degranulation have been more useful for diagnosing FHL than hemophagocytosis and the cytotoxicity assay. Of 281 (56%) patients classified as having "sporadic" HLH, 43 had monoallelic mutations in one of the FHL-defining genes. Given this gene dosage effect, FHL is not strictly recessive. We suggest that the clinical syndrome HLH generally results from the combined effects of an exogenous trigger and genetic predisposition. Within this combination, different weights of exogenous and genetic factors account for the wide disease spectrum that ranges from HLH secondary to severe infection to FHL. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  9. Magnetic Resonance Imaging of Patients With Chronic Lateral Epicondylitis

    Science.gov (United States)

    Qi, Liang; Zhang, Yu-Dong; Yu, Rong-Bin; Shi, Hai-Bin

    2016-01-01

    Abstract The aim of the study is to determine the inter-reliability and intra-observer reliability of magnetic resonance imaging (MRI) for lateral epicondylitis and investigate whether there is a potential relationship between MRI abnormalities of the common extensor tendon (CET) and its clinical symptom. The study group comprised 96 consecutive patients (46 men and 50 women) with a clinical diagnosis of chronic lateral epicondylitis, which were examined on 3.0 T MR. An MRI scoring system was used to grade the degree of tendinopahty. Three independent musculoskeletal radiologists, who were blinded to the patients’ clinical information, scored images separately. Clinical symptoms were assessed using the Patient-Rated Tennis Elbow Evaluation (PRTEE). Of all the patients, total 96 elbows had MRI-assessed tendinopathy, including 38 (39.6%) with grade 1, 31 (32.3%) with grade 2, and 27 (28.1%) with grade 3. Inter-observer reliability and intra-observer agreement for MRI interpretation of the grades of tendinopathy was good, and a positive correlation between the grades of tendinopathy and PRTEE was determined. MRI is a reliable tool in determining radiological severity of chronical lateral epicondylitis. The severity of MR signal changes positively correlate with the patient's clinical symptom. PMID:26844506

  10. Magnetic resonance imaging of the brain in patients with migraine

    Energy Technology Data Exchange (ETDEWEB)

    Igarashi, H.; Sakai, F.; Kan, S.; Okada, J.; Tazaki, Y. (Kitasato Univ., Sagamihara, Kanagawa (Japan). School of Medicine)

    1991-05-01

    Magnetic resonance imaging (MRI) was studied in 91 patients with migraine and in 98 controls. Risk factors known to cause MRI lesions were carefully examined. In 36 patients with migraine (39.6%), small foci of high intensity on T{sub 2}-weighted and proton-density-weighted images were seen in the white matter. Of patients with migraine who were less than 40 years old and without any risk factor, 29.4% showed lesions on MRI; this was singificantly higher than the 11.2% for the group of age-matched controls (n=98). The lesions were distributed predominantly in the centrum semiovale and frontal white matter in young patients, but extended to the deeper white matter at the level of basal ganglia in the older age group. The side of the MRI lesions did not always correspond to the side of usual aura or headache. Migraine-related variables such as type of migraine, frequency, duration or intensity of headache or consumption of ergotamine showed no significant correlation with the incidence om MRI abnormalities. The data indicated that migraine may be associated with early pathologic changes in the brain. 26 refs., 4 figs., 3 tabs.

  11. Magnetic resonance imaging of the brain in patients with migraine

    International Nuclear Information System (INIS)

    Igarashi, H.; Sakai, F.; Kan, S.; Okada, J.; Tazaki, Y.

    1991-01-01

    Magnetic resonance imaging (MRI) was studied in 91 patients with migraine and in 98 controls. Risk factors known to cause MRI lesions were carefully examined. In 36 patients with migraine (39.6%), small foci of high intensity on T 2 -weighted and proton-density-weighted images were seen in the white matter. Of patients with migraine who were less than 40 years old and without any risk factor, 29.4% showed lesions on MRI; this was singificantly higher than the 11.2% for the group of age-matched controls (n=98). The lesions were distributed predominantly in the centrum semiovale and frontal white matter in young patients, but extended to the deeper white matter at the level of basal ganglia in the older age group. The side of the MRI lesions did not always correspond to the side of usual aura or headache. Migraine-related variables such as type of migraine, frequency, duration or intensity of headache or consumption of ergotamine showed no significant correlation with the incidence om MRI abnormalities. The data indicated that migraine may be associated with early pathologic changes in the brain. 26 refs., 4 figs., 3 tabs

  12. Evaluation of Setup Error Correction for Patients Using On Board Imager in Image Guided Radiation Therapy

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Soo Man [Dept. of Radiation Oncology, Kosin University Gospel Hospital, Busan (Korea, Republic of)

    2008-09-15

    To reduce side effects in image guided radiation therapy (IGRT) and to improve the quality of life of patients, also to meet accurate SETUP condition for patients, the various SETUP correction conditions were compared and evaluated by using on board imager (OBI) during the SETUP. Each 30 cases of the head, the neck, the chest, the belly, and the pelvis in 150 cases of IGRT patients was corrected after confirmation by using OBI at every 2-3 day. Also, the difference of the SETUP through the skin-marker and the anatomic SETUP through the OBI was evaluated. General SETUP errors (Transverse, Coronal, Sagittal) through the OBI at original SETUP position were Head and Neck: 1.3 mm, Brain: 2 mm, Chest: 3 mm, Abdoman: 3.7 mm, Pelvis: 4 mm. The patients with more that 3 mm in the error range were observed in the correction devices and the patient motions by confirming in treatment room. Moreover, in the case of female patients, the result came from the position of hairs during the Head and Neck, Brain tumor. Therefore, after another SETUP in each cases of over 3 mm in the error range, the treatment was carried out. Mean error values of each parts estimated after the correction were 1 mm for the head, 1.2 mm for the neck, 2.5 mm for the chest, 2.5 mm for the belly, and 2.6 mm for the pelvis. The result showed the correction of SETUP for each treatment through OBI is extremely difficult because of the importance of SETUP in radiation treatment. However, by establishing the average standard of the patients from this research result, the better patient satisfaction and treatment results could be obtained.

  13. Evaluation of Setup Error Correction for Patients Using On Board Imager in Image Guided Radiation Therapy

    International Nuclear Information System (INIS)

    Kang, Soo Man

    2008-01-01

    To reduce side effects in image guided radiation therapy (IGRT) and to improve the quality of life of patients, also to meet accurate SETUP condition for patients, the various SETUP correction conditions were compared and evaluated by using on board imager (OBI) during the SETUP. Each 30 cases of the head, the neck, the chest, the belly, and the pelvis in 150 cases of IGRT patients was corrected after confirmation by using OBI at every 2-3 day. Also, the difference of the SETUP through the skin-marker and the anatomic SETUP through the OBI was evaluated. General SETUP errors (Transverse, Coronal, Sagittal) through the OBI at original SETUP position were Head and Neck: 1.3 mm, Brain: 2 mm, Chest: 3 mm, Abdoman: 3.7 mm, Pelvis: 4 mm. The patients with more that 3 mm in the error range were observed in the correction devices and the patient motions by confirming in treatment room. Moreover, in the case of female patients, the result came from the position of hairs during the Head and Neck, Brain tumor. Therefore, after another SETUP in each cases of over 3 mm in the error range, the treatment was carried out. Mean error values of each parts estimated after the correction were 1 mm for the head, 1.2 mm for the neck, 2.5 mm for the chest, 2.5 mm for the belly, and 2.6 mm for the pelvis. The result showed the correction of SETUP for each treatment through OBI is extremely difficult because of the importance of SETUP in radiation treatment. However, by establishing the average standard of the patients from this research result, the better patient satisfaction and treatment results could be obtained.

  14. Surgical transposition of the ovaries: imaging findings in 14 patients.

    Science.gov (United States)

    Kier, R; Chambers, S K

    1989-11-01

    Pelvic radiation therapy for cervical or vaginal cancer often leads to ovarian failure. To remove the ovaries from the radiation portal and preserve their function, they can be transposed to the lateral abdomen. Serial imaging studies in 14 patients who had undergone ovarian transposition (five bilateral, nine unilateral) were reviewed. Images obtained included 32 CT scans, 20 sonograms, and one MR image. Most transposed ovaries were located along the paracolic gutters near the iliac crests, creating an extrinsic mass effect on adjacent bowel. Detection of surgical clips on the ovary on CT scans allowed confident recognition of all 19 transposed ovaries. Cysts in the transposed ovaries, noted on most imaging studies, did not correlate with complications of pain or hormonal dysfunction. In one case, a large physiologic cyst in a transposed ovary distorted the cecum and was mistaken for a mucocele of the appendix. In another case, a large ovarian cyst was thought to be tumor recurrence or a lymphocele. These findings indicate that although the transposed ovaries can be recognized on CT scans by the surgical clips attached to the ovaries, the appearance of the ovary does not predict reliably the development of complications.

  15. Surgical transposition of the ovaries: Imaging findings in 14 patients

    International Nuclear Information System (INIS)

    Kier, R.; Chambers, S.K.

    1989-01-01

    Pelvic radiation therapy for cervical or vaginal cancer often leads to ovarian failure. To remove the ovaries from the radiation portal and preserve their function, they can be transposed to the lateral abdomen. Serial imaging studies in 14 patients who had undergone ovarian transposition (five bilateral, nine unilateral) were reviewed. Images obtained included 32 CT scans, 20 sonograms, and one MR image. Most transposed ovaries were located along the paracolic gutters near the iliac crests, creating an extrinsic mass effect on adjacent bowel. Detection of surgical clips on the ovary on CT scans allowed confident recognition of all 19 transposed ovaries. Cysts in the transposed ovaries, noted on most imaging studies, did not correlate with complications of pain or hormonal dysfunction. In one case, a large physiologic cyst in a transposed ovary distorted the cecum and was mistaken for a mucocele of the appendix. In another case, a large ovarian cyst was thought to be tumor recurrence or a lymphocele. These findings indicate that although the transposed ovaries can be recognized on CT scans by the surgical clips attached to the ovaries, the appearance of the ovary does not predict reliably the development of complications

  16. Diagnostic Medical Imaging in Pediatric Patients and Subsequent Cancer Risk.

    Science.gov (United States)

    Mulvihill, David J; Jhawar, Sachin; Kostis, John B; Goyal, Sharad

    2017-11-01

    The use of diagnostic medical imaging is becoming increasingly more commonplace in the pediatric setting. However, many medical imaging modalities expose pediatric patients to ionizing radiation, which has been shown to increase the risk of cancer development in later life. This review article provides a comprehensive overview of the available data regarding the risk of cancer development following exposure to ionizing radiation from diagnostic medical imaging. Attention is paid to modalities such as computed tomography scans and fluoroscopic procedures that can expose children to radiation doses orders of magnitude higher than standard diagnostic x-rays. Ongoing studies that seek to more precisely determine the relationship of diagnostic medical radiation in children and subsequent cancer development are discussed, as well as modern strategies to better quantify this risk. Finally, as cardiovascular imaging and intervention contribute substantially to medical radiation exposure, we discuss strategies to enhance radiation safety in these areas. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

  17. A Novel SCCA Approach via Truncated ℓ1-norm and Truncated Group Lasso for Brain Imaging Genetics.

    Science.gov (United States)

    Du, Lei; Liu, Kefei; Zhang, Tuo; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L; Han, Junwei; Guo, Lei; Saykin, Andrew J; Shen, Li

    2017-09-18

    Brain imaging genetics, which studies the linkage between genetic variations and structural or functional measures of the human brain, has become increasingly important in recent years. Discovering the bi-multivariate relationship between genetic markers such as single-nucleotide polymorphisms (SNPs) and neuroimaging quantitative traits (QTs) is one major task in imaging genetics. Sparse Canonical Correlation Analysis (SCCA) has been a popular technique in this area for its powerful capability in identifying bi-multivariate relationships coupled with feature selection. The existing SCCA methods impose either the ℓ 1 -norm or its variants to induce sparsity. The ℓ 0 -norm penalty is a perfect sparsity-inducing tool which, however, is an NP-hard problem. In this paper, we propose the truncated ℓ 1 -norm penalized SCCA to improve the performance and effectiveness of the ℓ 1 -norm based SCCA methods. Besides, we propose an efficient optimization algorithms to solve this novel SCCA problem. The proposed method is an adaptive shrinkage method via tuning τ . It can avoid the time intensive parameter tuning if given a reasonable small τ . Furthermore, we extend it to the truncated group-lasso (TGL), and propose TGL-SCCA model to improve the group-lasso-based SCCA methods. The experimental results, compared with four benchmark methods, show that our SCCA methods identify better or similar correlation coefficients, and better canonical loading profiles than the competing methods. This demonstrates the effectiveness and efficiency of our methods in discovering interesting imaging genetic associations. The Matlab code and sample data are freely available at http://www.iu.edu/∼shenlab/tools/tlpscca/ . © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  18. Preliminary application of SPECT three dimensional brain imaging in normal controls and patients with cerebral infarction

    Energy Technology Data Exchange (ETDEWEB)

    Zhaosheng, Luan; Pengyong,; Xiqin, Sun; Wei, Wang; Huisheng, Liu; Wen, Zhou [88 Hospital PLA, Taian, SD (China). Dept. of Nuclear Medicine

    1992-11-01

    10 normal controls and 32 cerebral infarction patients were examined with SPECT three-dimensional (3D) and sectional imaging. The result shows that 3D brain imaging has significant value in the diagnosis of cerebral infarction. 3D brain imaging is superior to sectional imaging in determining the location and size of superficial lesions. For the diagnosis of deep lesions, it is better to combine 3D brain imaging with sectional imaging. The methodology of 3D brain imaging is also discussed.

  19. Preliminary application of SPECT three dimensional brain imaging in normal controls and patients with cerebral infarction

    International Nuclear Information System (INIS)

    Luan Zhaosheng; Pengyong; Sun Xiqin; Wang Wei; Liu Huisheng; Zhou Wen

    1992-01-01

    10 normal controls and 32 cerebral infarction patients were examined with SPECT three-dimensional (3D) and sectional imaging. The result shows that 3D brain imaging has significant value in the diagnosis of cerebral infarction. 3D brain imaging is superior to sectional imaging in determining the location and size of superficial lesions. For the diagnosis of deep lesions, it is better to combine 3D brain imaging with sectional imaging. The methodology of 3D brain imaging is also discussed

  20. Development and pilot evaluation of novel genetic educational materials designed for an underserved patient population.

    Science.gov (United States)

    Lubitz, Rebecca Jean; Komaromy, Miriam; Crawford, Beth; Beattie, Mary; Lee, Robin; Luce, Judith; Ziegler, John

    2007-01-01

    Genetic counseling for BRCA1 and BRCA2 mutations involves teaching about hereditary cancer, genetics and risk, subjects that are difficult to grasp and are routinely misunderstood. Supported by a grant from the Avon Foundation, the UCSF Cancer Risk Program started the first genetic testing and counseling service for a population of traditionally underserved women of varied ethnic and social backgrounds at the San Francisco General Hospital (SFGH). Informed by educational theory and clinical experience, we devised and piloted two simplified explanations of heredity and genetic risk, with the aim of uncovering how to best communicate genetics and risk to this underserved population. A "conventional" version comprised pictures of genes, pedigrees, and quantitative representations of risk. A "colloquial" pictorial version used an analogy of the "information book" of genes, family stories and vignettes, and visual representations of risk, without using scientific words such as genes or chromosomes. A verbal narrative accompanied each picture. We presented these modules to four focus groups of five to eight women recruited from the SFGH Family Practice Clinic. Overall, women preferred a picture-based approach and commented that additional text would have been distracting. The majority of women preferred the colloquial version because it was easier to understand and better conveyed a sense of comfort and hope. We conclude that simplicity, analogies, and familiarity support comprehension while vignettes, family stories, and photos of real people provide comfort and hope. These elements may promote understanding of complex scientific topics in healthcare, particularly when communicating with patients who come from disadvantaged backgrounds.

  1. Toward automatic phenotyping of retinal images from genetically determined mono- and dizygotic twins using amplitude modulation-frequency modulation methods

    Science.gov (United States)

    Soliz, P.; Davis, B.; Murray, V.; Pattichis, M.; Barriga, S.; Russell, S.

    2010-03-01

    This paper presents an image processing technique for automatically categorize age-related macular degeneration (AMD) phenotypes from retinal images. Ultimately, an automated approach will be much more precise and consistent in phenotyping of retinal diseases, such as AMD. We have applied the automated phenotyping to retina images from a cohort of mono- and dizygotic twins. The application of this technology will allow one to perform more quantitative studies that will lead to a better understanding of the genetic and environmental factors associated with diseases such as AMD. A method for classifying retinal images based on features derived from the application of amplitude-modulation frequency-modulation (AM-FM) methods is presented. Retinal images from identical and fraternal twins who presented with AMD were processed to determine whether AM-FM could be used to differentiate between the two types of twins. Results of the automatic classifier agreed with the findings of other researchers in explaining the variation of the disease between the related twins. AM-FM features classified 72% of the twins correctly. Visual grading found that genetics could explain between 46% and 71% of the variance.

  2. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

    Science.gov (United States)

    van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

    2016-10-01

    To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  3. Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

    Science.gov (United States)

    Rangaraju, Advithi; Krishnan, Shuba; Aparna, G; Sankaran, Satish; Mannan, Ashraf U; Rao, B Hygriv

    2018-01-30

    Electrical storm (ES) is a life threatening clinical situation. Though a few clinical pointers exist, the occurrence of ES in a patient with remote myocardial infarction (MI) is generally unpredictable. Genetic markers for this entity have not been studied. In the present study, we carried out genetic screening in patients with remote myocardial infarction presenting with ES by next generation sequencing and identified 25 rare variants in 19 genes predominantly in RYR2, SCN5A, KCNJ11, KCNE1 and KCNH2, CACNA1B, CACNA1C, CACNA1D and desmosomal genes - DSP and DSG2 that could potentially be implicated in electrical storm. These genes have been previously reported to be associated with inherited syndromes of Sudden Cardiac Death. The present study suggests that the genetic architecture in patients with remote MI and ES of unstable ventricular tachycardia may be similar to that of Ion channelopathies. Identification of these variants may identify post MI patients who are predisposed to develop electrical storm and help in risk stratification. Copyright © 2018 Indian Heart Rhythm Society. Production and hosting by Elsevier B.V. All rights reserved.

  4. Genetic polymorphisms associated with psoriasis and development of psoriatic arthritis in patients with psoriasis.

    Science.gov (United States)

    Loft, Nikolai Dyrberg; Skov, Lone; Rasmussen, Mads Kirchheiner; Gniadecki, Robert; Dam, Tomas Norman; Brandslund, Ivan; Hoffmann, Hans Jürgen; Andersen, Malene Rohr; Dessau, Ram Benny; Bergmann, Ann Christina; Andersen, Niels Møller; Abildtoft, Mikkel Kramme; Andersen, Paal Skytt; Hetland, Merete Lund; Glintborg, Bente; Bank, Steffen; Vogel, Ulla; Andersen, Vibeke

    2018-01-01

    Psoriasis (PsO) is a chronic inflammatory disease with predominantly cutaneous manifestations. Approximately one third of patients with PsO develop psoriatic arthritis (PsA), whereas the remaining proportion of patients has isolated cutaneous psoriasis (PsC). These two phenotypes share common immunology, but with different heredity that might in part be explained by genetic variables. Using a candidate gene approach, we studied 53 single nucleotide polymorphisms (SNPs) in 37 genes that regulate inflammation. In total, we assessed 480 patients with PsO from DERMBIO, of whom 151 had PsC for 10 years or more (PsC10), 459 patients with PsA from DANBIO, and 795 healthy controls. Using logistic regression analysis, crude and adjusted for age and gender, we assessed associations between genetic variants and PsO, PsC10, and PsA, as well as associations between genetic variants and development of PsA in PsO. Eleven polymorphisms in 10 genes were nominally associated with PsO and/or PsC and/or PsA (P psoriasis, two SNPs in the IL12B and TNF genes were associated with susceptibility of psoriasis. None of the SNPs were specifically associated with isolated cutaneous psoriasis or psoriatic arthritis.

  5. Genetic and Computational Approaches for Studying Plant Development and Abiotic Stress Responses Using Image-Based Phenotyping

    Science.gov (United States)

    Campbell, M. T.; Walia, H.; Grondin, A.; Knecht, A.

    2017-12-01

    The development of abiotic stress tolerant crops (i.e. drought, salinity, or heat stress) requires the discovery of DNA sequence variants associated with stress tolerance-related traits. However, many traits underlying adaptation to abiotic stress involve a suite of physiological pathways that may be induced at different times throughout the duration of stress. Conventional single-point phenotyping approaches fail to fully capture these temporal responses, and thus downstream genetic analysis may only identify a subset of the genetic variants that are important for adaptation to sub-optimal environments. Although genomic resources for crops have advanced tremendously, the collection of phenotypic data for morphological and physiological traits is laborious and remains a significant bottleneck in bridging the phenotype-genotype gap. In recent years, the availability of automated, image-based phenotyping platforms has provided researchers with an opportunity to collect morphological and physiological traits non-destructively in a highly controlled environment. Moreover, these platforms allow abiotic stress responses to be recorded throughout the duration of the experiment, and have facilitated the use of function-valued traits for genetic analyses in major crops. We will present our approaches for addressing abiotic stress tolerance in cereals. This talk will focus on novel open-source software to process and extract biological meaningful data from images generated from these phenomics platforms. In addition, we will discuss the statistical approaches to model longitudinal phenotypes and dissect the genetic basis of dynamic responses to these abiotic stresses throughout development.

  6. Patient characteristics and participation in a genetic study: a type 2 diabetes cohort.

    Science.gov (United States)

    Amiri, Loabat; Cassidy-Bushrow, Andrea E; Dakki, Heather; Li, Jia; Wells, Karen; Oliveria, Susan A; Yood, Marianne Ulcickas; Thomas, Abraham; Lanfear, David E

    2014-01-01

    Recruitment of large, diverse populations into genetic studies remains challenging. Potential strategies to overcome limitations include leveraging electronic health data and minimizing patient burden. We sought to describe the overall participation rate and identify characteristics associated with participation in a genetic substudy of patients with type 2 diabetes mellitus, in which patients were identified via electronic hospital data and asked to participate by providing DNA samples by mail. During a phone interview, participants (n = 455) were asked to take part in a genetic substudy. Subjects verbally consenting were mailed saliva collection kits and written consent forms. We examined demographic and clinical variables associated with verbal consent and DNA kit return using logistic regression. Overall, 90% (n = 410) verbally consented to the genetic substudy during interviews. However, of those consenting, only 70% returned the DNA kit (n = 287). Among those consenting, after covariate adjustment, male sex (odds ratio [OR], 1.70; 95% confidence interval [CI], 1.09-2.65), African American race (OR, 0.61; 95% CI, 0.39-0.95), hemoglobin A1c (HbA1c) (OR, 0.87; 95% CI, 0.75-1.00), and physical activity (OR, 0.58; 95% CI, 0.37-0.91) were significantly associated with DNA kit return. To our knowledge, we are the first to demonstrate an inverse association between HbA1c and participation in genetic research, potentially indicating a compliance-related trait needing further exploration. The DNA kit return rate being notably lower than the verbal consent rate suggests that the greater convenience of a telephone/mail-in process did not drastically enhance full participation. Direct comparison to in-person donation may be warranted.

  7. Psoriasis Patients Are Enriched for Genetic Variants That Protect against HIV-1 Disease

    Science.gov (United States)

    Chen, Haoyan; Hayashi, Genki; Lai, Olivia Y.; Dilthey, Alexander; Kuebler, Peter J.; Wong, Tami V.; Martin, Maureen P.; Fernandez Vina, Marcelo A.; McVean, Gil; Wabl, Matthias; Leslie, Kieron S.; Maurer, Toby; Martin, Jeffrey N.; Deeks, Steven G.; Carrington, Mary; Bowcock, Anne M.; Nixon, Douglas F.; Liao, Wilson

    2012-01-01

    An important paradigm in evolutionary genetics is that of a delicate balance between genetic variants that favorably boost host control of infection but which may unfavorably increase susceptibility to autoimmune disease. Here, we investigated whether patients with psoriasis, a common immune-mediated disease of the skin, are enriched for genetic variants that limit the ability of HIV-1 virus to replicate after infection. We analyzed the HLA class I and class II alleles of 1,727 Caucasian psoriasis cases and 3,581 controls and found that psoriasis patients are significantly more likely than controls to have gene variants that are protective against HIV-1 disease. This includes several HLA class I alleles associated with HIV-1 control; amino acid residues at HLA-B positions 67, 70, and 97 that mediate HIV-1 peptide binding; and the deletion polymorphism rs67384697 associated with high surface expression of HLA-C. We also found that the compound genotype KIR3DS1 plus HLA-B Bw4-80I, which respectively encode a natural killer cell activating receptor and its putative ligand, significantly increased psoriasis susceptibility. This compound genotype has also been associated with delay of progression to AIDS. Together, our results suggest that genetic variants that contribute to anti-viral immunity may predispose to the development of psoriasis. PMID:22577363

  8. Imaging patients with 'post-cholecystectomy syndrome': an algorithmic approach

    International Nuclear Information System (INIS)

    Terhaar, O.A.; Abbas, S.; Thornton, F.J.; Duke, D.; O'Kelly, P.; Abdullah, K.; Varghese, J.C.; Lee, M.J.

    2005-01-01

    AIM: To assess the role of ultrasound (US), magnetic resonance cholangiopancreatography (MRCP) and liver function tests (LFTs) in the evaluation of selected patients presenting with late post-cholecystectomy syndrome (PCS) who were referred for endoscopic retrograde cholangiopancreatography (ERCP) MATERIALS AND METHODS: In a retrospective study a final group of 42 patients with PCS referred for diagnostic ERCP underwent MRCP and abdominal US. ERCP and MRCP images were assessed for bile duct diameters and the presence of strictures and stones. A common bile duct (CBD) diameter of <10 mm was considered normal, whereas ≥10 mm was considered abnormal on US. Findings were correlated to LFTs with contingency table results performed for single techniques and combination of methods. RESULTS: In total 14 stones and one stricture were seen. US had a high negative predictive value (86.4%). MRCP had a sensitivity of 100% and specificity of 88.0%. ERCP is the most accurate test but failed in 11 patients, five of whom had a stone. The accuracy of US and LFTs increases to 93.8% if test results agree in either negative or positive outcome. CONCLUSION: US and LFTs are first-line tests in PCS. If the CBD on US is ≥10 mm, but no cause is identified, MRCP should be performed. If US and LFTs are normal then MRCP is not necessary. The availability of LFTs raises the diagnostic value of imaging

  9. Imaging activity in astrocytes and neurons with genetically encoded calcium indicators following in utero electroporation

    Directory of Open Access Journals (Sweden)

    J. Michael eGee

    2015-04-01

    Full Text Available Complex interactions between networks of astrocytes and neurons are beginning to be appreciated, but remain poorly understood. Transgenic mice expressing fluorescent protein reporters of cellular activity, such as the GCaMP family of genetically encoded calcium indicators, have been used to explore network behavior. However, in some cases, it may be desirable to use long-established rat models that closely mimic particular aspects of human conditions such as Parkinson’s disease and the development of epilepsy following status epilepticus. Methods for expressing reporter proteins in the rat brain are relatively limited. Transgenic rat technologies exist but are fairly immature. Viral-mediated expression is robust but unstable, requires invasive injections, and only works well for fairly small genes (< 5 kb. In utero electroporation offers a valuable alternative. IUE is a proven method for transfecting populations of astrocytes and neurons in the rat brain without the strict limitations on transgene size. We built a toolset of IUE plasmids carrying GCaMP variants 3, 6s or 6f driven by CAG and targeted to the cytosol or the plasma membrane. Because low baseline fluorescence of GCaMP can hinder identification of transfected cells, we included the option of co-expressing a cytosolic tdTomato protein. A binary system consisting of a plasmid carrying a piggyBac inverted terminal repeat-flanked CAG-GCaMP-IRES-tdTomato cassette and a separate plasmid encoding for expression of piggyBac transposase was employed to stably express GCaMP and tdTomato. The plasmids were co-electroporated on embryonic days 13.5-14.5 and astrocytic and neuronal activity was subsequently imaged in acute or cultured brain slices prepared from the cortex or hippocampus. Large spontaneous transients were detected in slices obtained from rats of varying ages up to 127 days. In this report, we demonstrate the utility of this toolset for interrogating astrocytic and neuronal

  10. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

    Science.gov (United States)

    Rostomyan, Liliya; Daly, Adrian F; Petrossians, Patrick; Nachev, Emil; Lila, Anurag R; Lecoq, Anne-Lise; Lecumberri, Beatriz; Trivellin, Giampaolo; Salvatori, Roberto; Moraitis, Andreas G; Holdaway, Ian; Kranenburg-van Klaveren, Dianne J; Chiara Zatelli, Maria; Palacios, Nuria; Nozieres, Cecile; Zacharin, Margaret; Ebeling, Tapani; Ojaniemi, Marja; Rozhinskaya, Liudmila; Verrua, Elisa; Jaffrain-Rea, Marie-Lise; Filipponi, Silvia; Gusakova, Daria; Pronin, Vyacheslav; Bertherat, Jerome; Belaya, Zhanna; Ilovayskaya, Irena; Sahnoun-Fathallah, Mona; Sievers, Caroline; Stalla, Gunter K; Castermans, Emilie; Caberg, Jean-Hubert; Sorkina, Ekaterina; Auriemma, Renata Simona; Mittal, Sachin; Kareva, Maria; Lysy, Philippe A; Emy, Philippe; De Menis, Ernesto; Choong, Catherine S; Mantovani, Giovanna; Bours, Vincent; De Herder, Wouter; Brue, Thierry; Barlier, Anne; Neggers, Sebastian J C M M; Zacharieva, Sabina; Chanson, Philippe; Shah, Nalini Samir; Stratakis, Constantine A; Naves, Luciana A; Beckers, Albert

    2015-10-01

    Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and a current/previous abnormal growth velocity for age or final height >2 s.d. above country normal means. The median onset of rapid growth was 13 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs 21.5 years respectively). Adenomas were ≥10 mm (i.e., macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF1 control was achieved in 39% during long-term follow-up. Final height was greater in younger onset patients, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 - X-linked acrogigantism (X-LAG) - occurred in two familial isolated pituitary adenoma kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically negative patient groups. AIP-mutated and X-LAG patients were significantly younger at onset and diagnosis, but disease control was worse in genetically negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases. © 2015 Society for Endocrinology.

  11. AN ARTIFICIAL NEURAL NETWORK EVALUATION OF TUBERCULOSIS USING GENETIC AND PHYSIOLOGICAL PATIENT DATA

    International Nuclear Information System (INIS)

    Griffin, William O.; Darsey, Jerry A.; Hanna, Josh; Razorilova, Svetlana; Kitaev, Mikhael; Alisherov, Avtandiil; Tarasenko, Olga

    2010-01-01

    When doctors see more cases of patients with tell-tale symptoms of a disease, it is hoped that they will be able to recognize an infection administer treatment appropriately, thereby speeding up recovery for sick patients. We hope that our studies can aid in the detection of tuberculosis by using a computer model called an artificial neural network. Our model looks at patients with and without tuberculosis (TB). The data that the neural network examined came from the following: patient' age, gender, place, of birth, blood type, Rhesus (Rh) factor, and genes of the human Leukocyte Antigens (HLA) system (9q34.1) present in the Major Histocompatibility Complex. With availability in genetic data and good research, we hope to give them an advantage in the detection of tuberculosis. We try to mimic the doctor's experience with a computer test, which will learn from patient data the factors that contribute to TB.

  12. Remote auscultatory patient monitoring during magnetic resonance imaging

    DEFF Research Database (Denmark)

    Henneberg, S; Hök, B; Wiklund, L

    1992-01-01

    A system for patient monitoring during magnetic resonance imaging (MRI) is described. The system is based on remote auscultation of heart sounds and respiratory sounds using specially developed pickup heads that are positioned on the precordium or at the nostrils and connected to microphones via...... can be simultaneously auscultated both inside and outside the shielded MRI room by infrared transmission through a metal mesh window. Bench tests of the system show that common mode acoustic noise is suppressed by approximately 30 dB in the frequency region of interest (100-1,000 Hz), and that polymer...

  13. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

    Science.gov (United States)

    Koutsis, G; Karadima, G; Pandraud, A; Sweeney, M G; Paudel, R; Houlden, H; Wood, N W; Panas, M

    2012-09-01

    Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.

  14. Ultrasound imaging of the nose in septorhinoplasty patients.

    Science.gov (United States)

    Stenner, Markus; Rudack, Claudia

    2015-10-01

    Detailed preoperative planning based on available clinical information is an essential component of determining septorhinoplasty outcome. In addition to rhinoscopy and airway measurements, preoperative photographs are the only image modalities that are regularly used in septorhinoplasty patients and contribute to the preoperative planning of the surgery. The aim of this study was to evaluate the use of high-resolution ultrasonography in septorhinoplasty patients before surgery and during follow-up. We examined 35 patients before and after open septorhinoplasty using 12- and 15-MHz B-mode, linear array transducer ultrasound in noncontact mode. The patients presented with a variety of different functional and aesthetic problems, and all underwent septorhinoplasty for septal modification, and tip and dorsum refinement. The mean follow-up time for ultrasound after surgery was 4.5 weeks. Soft tissue, cartilaginous, and bony structures of the nose could be well-visualised. In the untreated nose, functional and aesthetic characteristics as well as preoperative anatomy relevant for the planning of the surgery could be documented. Surgical modifications of the treated nose postoperatively, that is, osteotomies, inserted spreader grafts, diced cartilage in fascia, and tip sutures could be visualized and followed. Ultrasonography of the nose with a high-frequency transducer may be a helpful tool during preoperative planning and postoperative follow-up in septorhinoplasty patients and might be a reasonable completion to the common photographic and functional diagnostic.

  15. Brain magnetic resonance imaging findings in patients with systemic sclerosis.

    Science.gov (United States)

    Mohamed, Reem H A; Nassef, Amr A

    2010-02-01

    Systemic sclerosis is a multisystem disease where functional and structural abnormalities of small blood vessels prevail. Recently, transient ischemic attacks, ischemic stroke, and hemorrhages have been reported as primary consequence of vascular central nervous system affection in systemic sclerosis. Magnetic resonance imaging (MRI) is considered to be the most sensitive diagnostic technique for detecting symptomatic and asymptomatic lesions in the brain in cases of multifocal diseases. Evaluate brain changes in patients with systemic sclerosis using MRI. Thirty female patients with systemic sclerosis aged 27-61 years, with disease duration of 1-9 years and with no history of other systemic disease or cerebrovascular accidents, were enrolled. An age-matched female control group of 30 clinically normal subjects, underwent brain MR examination. Central nervous system involvement in the form of white matter hyperintense foci of variable sizes were found in significantly abundant forms in systemic sclerosis patients on MR evaluation than in the age-related control group, signifying a form of central nervous system vasculopathy. Such foci showed no definite correlation with disease duration, yet they showed significant correlation to severity of peripheral vascular disease, headaches, fainting attacks and depression in the group under study. Asymptomatic as well as symptomatic central nervous system ischemic vasculopathy is not uncommon in systemic sclerosis patients and MRI is considered a sensitive noninvasive screening tool for early detection of CNS involvement in patients with systemic sclerosis.

  16. Imaging of tuberculosis. Pt. 4. Spinal manifestations in 63 patients

    International Nuclear Information System (INIS)

    Lindahl, S.; Nyman, R.S.; Brismar, J.; Hugosson, C.; Lundstedt, C.

    1996-01-01

    Purpose: To describe the radiologic findings in patients with spinal tuberculosis (TB). Material and Methods: Out of a total of 503 patients with TB, 63 (13%) had involvement of the spine. Results: In 40 patients, the spine was the only location; 20 patients had concomitant chest TB. Conventional radiographs gave a good overview, CT visualized the diskovetebral lesions and the paravertebral abscesses, while MR imaging was useful to determine the spread of disease to the soft tissues and the spinal canal. The typical findings were destroyed vertebrae with associated paraspinal soft-tissue mass, with or without abscess formation, sometimes also involving the epidural space together with adjoining disk lesion and focal gibbus formation. Involvement of a single vertebra was a relatively common finding. Large psoas abscesses could occur without any signs of bone involvement. The TB process could sometimes be indistinguishable from malignant processes, and in 3 patients, with multiple lesions in the spine, it mimicked metastatic disease. Conclusion: It is stressed that TB should always be considered in the differential diagnosis when radiologic findings suggest spinal infections or primary or secondary spinal tumors. (orig.)

  17. [Clinical genealogical and molecular genetic study of patients with mental retardation].

    Science.gov (United States)

    Hryshchenko, N V; B'ichkova, A M; Lyvshyts, A B; Kravchenko, S A; Pampukha, V N; Solov'ev, A A; Kucherenko, A M; Tatarskiĭ, P F; Afanas'eva, N A; Dubrovskaia, E V; Patskun, Ie Y; Zymak-Zakutnaia, N O; Nykytchina, T V; Lohysh, S Iu; Lyvshyts, L A

    2012-01-01

    The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.

  18. EXPRESSION OF GENETIC LOCI IN THE PERIPHERAL BLOOD MONONUCLEAR FRACTION FROM PATIENTS WITH PROSTATE CANCER

    Directory of Open Access Journals (Sweden)

    M. I. Kogan

    2014-08-01

    Full Text Available The early diagnosis and radical treatment of aggressive prostate cancers (PC is an effective way of improving survival and quality of life in patients. To develop mini-invasive tests is one of the ways of solving the problem. The cells of a peripheral blood mononuclear fraction in the expression patterns of their genetic loci reflect the presence or absence of cancers, including information on therapeutic effectiveness. RT-PRC was used to study the relative expression of 15 genetic loci in a chromosome and one locus of mitochondrial DNA in the cells of the peripheral blood mononuclear fraction in patients with PC or benign prostate hyperplasia and in healthy men. The genetic locus patterns whose change may be of informative value for differential diagnosis in patients with different stages of PC were revealed. The authors studied the relationship and showed the prognostic role and non-relationship of the altered transcriptional activity of loci in the TP53, GSTP1, and IL10 genes in PC to the changes in prostate-specific antigen the level with 90 % specificity and 93 % specificity.

  19. Genetic screening and testing in an episode-based payment model: preserving patient autonomy.

    Science.gov (United States)

    Sutherland, Sharon; Farrell, Ruth M; Lockwood, Charles

    2014-11-01

    The State of Ohio is implementing an episode-based payment model for perinatal care. All costs of care will be tabulated for each live birth and assigned to the delivering provider, creating a three-tiered model for reimbursement for care. Providers will be reimbursed as usual for care that is average in cost and quality, while instituting rewards or penalties for those outside the expected range in either domain. There are few exclusions, and all methods of genetic screening and diagnostic testing are included in the episode cost calculation as proposed. Prenatal ultrasonography, genetic screening, and diagnostic testing are critical components of the delivery of high-quality, evidence-based prenatal care. These tests provide pregnant women with key information about the pregnancy, which, in turn, allows them to work closely with their health care provider to determine optimal prenatal care. The concepts of informed consent and decision-making, cornerstones of the ethical practice of medicine, are founded on the principles of autonomy and respect for persons. These principles recognize that patients' rights to make choices and take actions are based on their personal beliefs and values. Given the personal nature of such decisions, it is critical that patients have unbarred access to prenatal genetic tests if they elect to use them as part of their prenatal care. The proposed restructuring of reimbursement creates a clear conflict between patient autonomy and physician financial incentives.

  20. Spinal cord diffusion tensor imaging in patients with sensory neuronopathy

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes Casseb, Raphael [University of Campinas - UNICAMP, Department of Neurology, School of Medicine, Campinas, SP (Brazil); University of Campinas - UNICAMP, Neurophysics Group, Department of Cosmic Rays and Chronology, Institute of Physics Gleb Wataghin, Campinas, SP (Brazil); Ribeiro de Paiva, Jean Levi; Teixeira Branco, Lucas Melo; Muro Martinez, Alberto Rolim; Cavalcante Franca, Marcondes Jr. [University of Campinas - UNICAMP, Department of Neurology, School of Medicine, Campinas, SP (Brazil); Reis, Fabiano [University of Campinas - UNICAMP, Department of Radiology, School of Medicine, Campinas, SP (Brazil); Lima-Junior, Jose Carlos de [University of Campinas - UNICAMP, Laboratory of Cell Signaling, Department of Internal Medicine, Campinas, SP (Brazil); Castellano, Gabriela [University of Campinas - UNICAMP, Neurophysics Group, Department of Cosmic Rays and Chronology, Institute of Physics Gleb Wataghin, Campinas, SP (Brazil)

    2016-11-15

    We investigated whether MR diffusion tensor imaging (DTI) analysis of the cervical spinal cord could aid the (differential) diagnosis of sensory neuronopathies, an underdiagnosed group of diseases of the peripheral nervous system. We obtained spinal cord DTI and T2WI at 3 T from 28 patients, 14 diabetic subjects with sensory-motor distal polyneuropathy, and 20 healthy controls. We quantified DTI-based parameters and looked at the hyperintense T2W signal at the spinal cord posterior columns. Fractional anisotropy and mean diffusivity values at C2-C3 and C3-C4 levels were compared between groups. We also compared average fractional anisotropy (mean of values at C2-C3 and C3-C4 levels). A receiver operating characteristic (ROC) curve was used to determine diagnostic accuracy of average fractional anisotropy, and we compared its sensitivity against the hyperintense signal in segregating patients from the other subjects. Mean age and disease duration were 52 ± 10 and 11.4 ± 9.3 years in the patient group. Eighteen subjects had idiopathic disease and 6 dysimmune etiology. Fractional anisotropy at C3-C4 level and average fractional anisotropy were significantly different between patients and healthy controls (p < 0.001 and <0.001) and between patients and diabetic subjects (p = 0.019 and 0.027). Average fractional anisotropy presented an area under the curve of 0.838. Moreover, it had higher sensitivity than visual detection of the hyperintense signal (0.86 vs. 0.54), particularly for patients with short disease duration. DTI-based analysis enables in vivo detection of posterior column damage in sensory neuronopathy patients and is a useful diagnostic test for this condition. It also helps the differential diagnosis between sensory neuronopathy and distal polyneuropathies. (orig.)

  1. Spinal cord diffusion tensor imaging in patients with sensory neuronopathy

    International Nuclear Information System (INIS)

    Fernandes Casseb, Raphael; Ribeiro de Paiva, Jean Levi; Teixeira Branco, Lucas Melo; Muro Martinez, Alberto Rolim; Cavalcante Franca, Marcondes Jr.; Reis, Fabiano; Lima-Junior, Jose Carlos de; Castellano, Gabriela

    2016-01-01

    We investigated whether MR diffusion tensor imaging (DTI) analysis of the cervical spinal cord could aid the (differential) diagnosis of sensory neuronopathies, an underdiagnosed group of diseases of the peripheral nervous system. We obtained spinal cord DTI and T2WI at 3 T from 28 patients, 14 diabetic subjects with sensory-motor distal polyneuropathy, and 20 healthy controls. We quantified DTI-based parameters and looked at the hyperintense T2W signal at the spinal cord posterior columns. Fractional anisotropy and mean diffusivity values at C2-C3 and C3-C4 levels were compared between groups. We also compared average fractional anisotropy (mean of values at C2-C3 and C3-C4 levels). A receiver operating characteristic (ROC) curve was used to determine diagnostic accuracy of average fractional anisotropy, and we compared its sensitivity against the hyperintense signal in segregating patients from the other subjects. Mean age and disease duration were 52 ± 10 and 11.4 ± 9.3 years in the patient group. Eighteen subjects had idiopathic disease and 6 dysimmune etiology. Fractional anisotropy at C3-C4 level and average fractional anisotropy were significantly different between patients and healthy controls (p < 0.001 and <0.001) and between patients and diabetic subjects (p = 0.019 and 0.027). Average fractional anisotropy presented an area under the curve of 0.838. Moreover, it had higher sensitivity than visual detection of the hyperintense signal (0.86 vs. 0.54), particularly for patients with short disease duration. DTI-based analysis enables in vivo detection of posterior column damage in sensory neuronopathy patients and is a useful diagnostic test for this condition. It also helps the differential diagnosis between sensory neuronopathy and distal polyneuropathies. (orig.)

  2. Quantitative assessment of videolaryngostroboscopic images in patients with glottic pathologies.

    Science.gov (United States)

    Niebudek-Bogusz, Ewa; Kopczynski, Bartosz; Strumillo, Pawel; Morawska, Joanna; Wiktorowicz, Justyna; Sliwinska-Kowalska, Mariola

    2017-07-01

    Digital imaging techniques enable exploration of novel visualization modalities of the vocal folds during phonation and definition of parameters, facilitating more precise diagnosis of voice disorders. Application of computer vision algorithms for analysis of videolaryngostroboscopic (VLS) images aimed at qualitative and quantitative description of phonatory vibrations. VLS examinations were conducted for 45 females, including 15 subjects with vocal nodules, 15 subjects with glottal incompetence, and 15 normophonic females. The recorded VLS images were preprocessed, the glottis area was segmented out, and the glottal cycles were identified. The glottovibrograms were built, and then the glottal area waveforms (GAW) were quantitatively described by computing the following parameters: open quotient (OQ), closing quotient (CQ), speed quotient (SQ), minimal relative glottal area (MRGA), and a new parameter termed closure difference index (CDI). Profiles of the glottal widths assessed along the glottal length differentiated the study groups (P diagnostics. Results of the performed ROC curve analysis suggest that the evaluated parameters can distinguish patients with voice disorders from normophonic subjects.

  3. Evaluation of usefulness of portal image using Electronic Portal Imaging Device (EPID) in the patients who received pelvic radiation therapy

    International Nuclear Information System (INIS)

    Kim, Woo Chul; Kim, Heon Jong; Park, Seong Young; Cho, Young Kap; Loh, John J. K.; Park, Won; Suh, Chang Ok; Kim, Gwi Eon

    1998-01-01

    To evaluate the usefulness of electronic portal imaging device through objective compare of the images acquired using an EPID and a conventional port film. From Apr. to Oct. 1997, a total of 150 sets of images from 20 patients who received radiation therapy in the pelvis area were evaluated in the Inha University Hospital and Severance Hospital. A dual image recording technique was devised to obtain both electronic portal images and port film images simultaneously with one treatment course. We did not perform double exposure. Five to ten images were acquired from each patient. All images were acquired from posteroanterior (PA) view except images from two patients. A dose rate of 100-300 MU/min and a 10-MV X-ray beam were used and 2-10 MUs were required to produce a verification image during treatment. Kodak diagnostic film with metal/film imaging cassette which was located on the top of the EPID detector was used for the port film. The source to detector distance was 140 cm. Eight anatomical landmarks (pelvic brim, sacrum, acetabulum, iliopectineal line, symphysis, ischium, obturator foramen, sacroiliac joint) were assessed. Four radiation oncologist joined to evaluate each image. The individual landmarks in the port film or in the EPID were rated-very clear (1), clear (2), visible (3), notclear (4), not visible (5). Using an video camera based EPID system, there was no difference of image quality between no enhanced EPID images and port film images. However, when we provided some change with window level for the portal image, the visibility of the sacrum and obturator foramen was improved in the portal images than in the port film images. All anatomical landmarks were more visible in the portal images than in the port film when we applied the CLAHE mode enhancement. The images acquired using an matrix ion chamber type EPID were also improved image quality after window level adjustment. The quality of image acquired using an electronic portal imaging device was

  4. Prospective Evaluation of Dual-Energy Imaging in Patients Undergoing Image Guided Radiation Therapy for Lung Cancer: Initial Clinical Results

    International Nuclear Information System (INIS)

    Sherertz, Tracy; Hoggarth, Mark; Luce, Jason; Block, Alec M.; Nagda, Suneel; Harkenrider, Matthew M.; Emami, Bahman; Roeske, John C.

    2014-01-01

    Purpose: A prospective feasibility study was conducted to investigate the utility of dual-energy (DE) imaging compared to conventional x-ray imaging for patients undergoing kV-based image guided radiation therapy (IGRT) for lung cancer. Methods and Materials: An institutional review board-approved feasibility study enrolled patients with lung cancer undergoing IGRT and was initiated in September 2011. During daily setup, 2 sequential respiration-gated x-ray images were obtained using an on-board imager. Imaging was composed of 1 standard x-ray image at 120 kVp (1 mAs) and a second image obtained at 60 kVp (4 mAs). Weighted logarithmic subtraction of the 2 images was performed offline to create a soft tissue-selective DE image. Conventional and DE images were evaluated by measuring relative contrast and contrast-to-noise ratios (CNR) and also by comparing spatial localization, using both approaches. Imaging dose was assessed using a calibrated ion chamber. Results: To date, 10 patients with stage IA to IIIA lung cancer were enrolled and 57 DE images were analyzed. DE subtraction resulted in complete suppression of overlying bone in all 57 DE images, with an average improvement in relative contrast of 4.7 ± 3.3 over that of 120 kVp x-ray images (P<.0002). The improvement in relative contrast with DE imaging was seen for both smaller (gross tumor volume [GTV] ≤5 cc) and larger tumors (GTV >5 cc), with average relative contrast improvement ratios of 3.4 ± 4.1 and 5.4 ± 3.6, respectively. Moreover, the GTV was reliably localized in 95% of the DE images versus 74% of the single energy (SE images, (P=.004). Mean skin dose per DE image set was 0.44 ± 0.03 mGy versus 0.43 ± 0.03 mGy, using conventional kV imaging parameters. Conclusions: Initial results of this feasibility study suggest that DE thoracic imaging may enhance tumor localization in lung cancer patients receiving kV-based IGRT without increasing imaging dose

  5. Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

    Science.gov (United States)

    Bindu, Parayil Sankaran; Govindaraju, Chikanna; Sonam, Kothari; Nagappa, Madhu; Chiplunkar, Shwetha; Kumar, Rakesh; Gayathri, Narayanappa; Bharath, M M Srinivas; Arvinda, Hanumanthapura R; Sinha, Sanjib; Khan, Nahid Akthar; Govindaraj, Periyasamy; Nunia, Vandana; Paramasivam, Arumugam; Thangaraj, Kumarasamy; Taly, Arun B

    2016-03-01

    There are relatively few studies, which focus on peripheral neuropathy in large cohorts of genetically characterized patients with mitochondrial disorders. This study sought to analyze the pattern of peripheral neuropathy in a cohort of patients with mitochondrial disorders. The study subjects were derived from a cohort of 52 patients with a genetic diagnosis of mitochondrial disorders seen over a period of 8 years (2006-2013). All patients underwent nerve conduction studies and those patients with abnormalities suggestive of peripheral neuropathy were included in the study. Their phenotypic features, genotype, pattern of peripheral neuropathy and nerve conduction abnormalities were analyzed retrospectively. The study cohort included 18 patients (age range: 18 months-50 years, M:F- 1.2:1).The genotype included mitochondrial DNA point mutations (n=11), SURF1 mutations (n=4) and POLG1(n=3). Axonal neuropathy was noted in 12 patients (sensori-motor:n=4; sensory:n=4; motor:n=4) and demyelinating neuropathy in 6. Phenotype-genotype correlations revealed predominant axonal neuropathy in mtDNA point mutations and demyelinating neuropathy in SURF1. Patients with POLG related disorders had both sensory ataxic neuropathy and axonal neuropathy. A careful analysis of the family history, clinical presentation, biochemical, histochemical and structural analysis may help to bring out the mitochondrial etiology in patients with peripheral neuropathy and may facilitate targeted gene testing. Presence of demyelinating neuropathy in Leigh's syndrome may suggest underlying SURF1 mutations. Sensory ataxic neuropathy with other mitochondrial signatures should raise the possibility of POLG related disorder. Copyright © 2015. Published by Elsevier B.V.

  6. Modern imaging techniques in patients with multiple myeloma

    International Nuclear Information System (INIS)

    Bannas, Peter; Adam, G.; Derlin, T.; Kroeger, N.

    2013-01-01

    Imaging studies are essential for both diagnosis and initial staging of multiple myeloma, as well as for differentiation from other monoclonal plasma cell diseases. Apart from conventional radiography, a variety of newer imaging modalities including whole-body low-dose-CT, whole-body MRI and 18F-FDG PET/CT may be used for detection of osseous and extraosseous myeloma manifestations. Despite of known limitations such as limited sensitivity and specificity and the inability to detect extraosseous lesions, conventional radiography still remains the gold standard for staging newly diagnosed myeloma, partly due to its wide availability and low costs. Whole-body low-dose CT is increasingly used due to its higher sensitivity for the detection of osseous lesions and its ability to diagnose extraosseous lesions, and is replacing conventional radiography at selected centres. The highest sensitivity for both detection of bone marrow disease and extraosseous lesions can be achieved with whole-body MRI or 18F-FDG PET/CT. Diffuse bone marrow infiltration may be visualized by whole-body MRI with high sensitivity. Whole-body MRI is at least recommended in all patients with normal conventional radiography and in all patients with an apparently solitary plasmacytoma of bone. To obtain the most precise readings, optimized examination protocols and dedicated radiologists and nuclear medicine physicians familiar with the complex and variable morphologies of myeloma lesions are required. (orig.)

  7. [Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].

    Science.gov (United States)

    Silva, Magnus R Dias da; Chiamolera, Maria Izabel; Kasamatsu, Teresa S; Cerutti, Janete M; Maciel, Rui M B

    2004-02-01

    Thyrotoxic hypokalemic periodic paralysis (THPP) is a medical emergency characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis that resolve with the treatment of hyperthyroidism. Attacks are transient, self-limited, associated with hypokalemia and resemble those of familial hypokalemic periodic paralysis (FHPP), an autosomal dominant neurological channelopathy. This study reviews the clinical features and genetic findings of THPP in 25 Brazilian patients. Most patients had weight loss, taquicardia, goiter, tremor, and ophthalmopathy. Most often attacks arose during the night and recovered spontaneously but some patients evolved to total quadriplegia, and few experienced cardiac arrhythmias. All patients had suppressed TSH and elevated T4 and most had positive anti-thyroid antibodies, indicating autoimmunity thyrotoxic etiology. Potassium was low in all patients during the crisis. Prophylactic potassium therapy has not been shown to prevent attacks; however it was useful for curbing the paralysis during the crisis. We identified the mutation R83H in the KCNE3 gene in one sporadic case, and M58V in the KCNE4 gene in one case with family history. Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes. We conclude that THPP is the most common treatable cause of acquired periodic paralysis; therefore, it must be included in the differential diagnosis of acute muscle weakness.

  8. Cine MR imaging of uterine peristalsis in patients with endometriosis

    International Nuclear Information System (INIS)

    Kido, Aki; Togashi, Kaori; Koyama, Takashi; Fujimoto, Ryota; Nishino, Mizuki; Miyake, Kanae; Hayakawa, Katsumi; Iwasaku, Kazuhiro; Fujii, Shingo

    2007-01-01

    Endometriosis is one of the most important causes of infertility; however the precise mechanism by which it affects female fertility is unclear. The objective of this study was to study the functional aspects of the uterus by evaluating uterine contractility in patients with endometrial cysts of the ovary. The study population was recruited from two institutes and consisted of 26 women (periovulatory (10), luteal (13), and menstrual phase (3); age range: 19-51 years) with untreated endometriosis; the control group consisted of 12 healthy women (age range: 22-41 years). Cine MR imaging obtained by a 1.5T magnet was visually evaluated at 12 x faster than real speed, focusing on the presence of uterine peristalsis, the direction and frequency of peristalsis, and the presence of sustained uterine contractions. Uterine peristalsis was identifiable in 3/10, 3/13, and 3/3 of the endometriosis patients in each menstrual cycle, respectively, and in 11/12, 3/12, and 5/12 of their control subjects. Peristaltic detection rate and frequency were significantly less for the endometriosis group than for the controls in the periovulatory phase only (p<0.05). Sustained contractions were recognized in 19/36 control subjects and in 13/26 endometriosis patients, but the difference was not significant. Uterine peristalsis appears to be suppressed during the periovulatory phase in patients with endometriosis, which may have an adverse effect on sperm transport. (orig.)

  9. Practical considerations in radionuclide imaging of pediatric patients

    International Nuclear Information System (INIS)

    Conway, J.J.

    1984-01-01

    A certain proportion of the patients encountered in the practice of nuclear medicine will fall within the pediatric age group. The pediatric age range is usually defined as extending from birth to 18 years. Therefore, the specialist in nuclear medicine may have to deal with pediatric patients weighing as little as 800 g or as much as 300 lb. This encounter may be pleasant or unpleasant, depending upon the physician's knowledge of the techniques required for handling children and obtaining an adequate study and a basic understanding of specific pediatric disorders. Among the issues that must be considered are the equipment, which must be suitable for handling and obtaining optimal images of small children; the development of a basic understanding of the peculiarities of radiopharmaceutical distribution in children, which differs from that in adults; and, importantly, a knowledge of radiation dosimetry as it relates to the pediatric patient. It is beyond the scope of this chapter to present a comprehensive dissertation on the topic of pediatric nuclear medicine. The theme therefore is limited to the general principles and techniques required for nuclear medicine studies on pediatric patients. In addition, studies that exhibit unique characteristics when performed on children are highlighted in an effort to define that essence of pediatric nuclear medicine that differentiates it from the practice of nuclear medicine in adults

  10. Cine MR imaging of uterine peristalsis in patients with endometriosis

    Energy Technology Data Exchange (ETDEWEB)

    Kido, Aki; Togashi, Kaori; Koyama, Takashi; Fujimoto, Ryota [Kyoto University, Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto (Japan); Nishino, Mizuki [Beth Israel Deaconess Medical Center, Department of Radiology, Kyoto (Japan); Miyake, Kanae; Hayakawa, Katsumi [Kyoto City Hospital, Department of Radiology, Kyoto (Japan); Iwasaku, Kazuhiro [Kyoto City Hospital, Department of Obstetrics and Gynecology, Kyoto (Japan); Fujii, Shingo [Kyoto University, Department of Gynecology and Obstetrics, Kyoto (Japan)

    2007-07-15

    Endometriosis is one of the most important causes of infertility; however the precise mechanism by which it affects female fertility is unclear. The objective of this study was to study the functional aspects of the uterus by evaluating uterine contractility in patients with endometrial cysts of the ovary. The study population was recruited from two institutes and consisted of 26 women (periovulatory (10), luteal (13), and menstrual phase (3); age range: 19-51 years) with untreated endometriosis; the control group consisted of 12 healthy women (age range: 22-41 years). Cine MR imaging obtained by a 1.5T magnet was visually evaluated at 12 x faster than real speed, focusing on the presence of uterine peristalsis, the direction and frequency of peristalsis, and the presence of sustained uterine contractions. Uterine peristalsis was identifiable in 3/10, 3/13, and 3/3 of the endometriosis patients in each menstrual cycle, respectively, and in 11/12, 3/12, and 5/12 of their control subjects. Peristaltic detection rate and frequency were significantly less for the endometriosis group than for the controls in the periovulatory phase only (p<0.05). Sustained contractions were recognized in 19/36 control subjects and in 13/26 endometriosis patients, but the difference was not significant. Uterine peristalsis appears to be suppressed during the periovulatory phase in patients with endometriosis, which may have an adverse effect on sperm transport. (orig.)

  11. Safety of Magnetic Resonance Imaging in Patients with Cardiac Devices.

    Science.gov (United States)

    Nazarian, Saman; Hansford, Rozann; Rahsepar, Amir A; Weltin, Valeria; McVeigh, Diana; Gucuk Ipek, Esra; Kwan, Alan; Berger, Ronald D; Calkins, Hugh; Lardo, Albert C; Kraut, Michael A; Kamel, Ihab R; Zimmerman, Stefan L; Halperin, Henry R

    2017-12-28

    Patients who have pacemakers or defibrillators are often denied the opportunity to undergo magnetic resonance imaging (MRI) because of safety concerns, unless the devices meet certain criteria specified by the Food and Drug Administration (termed "MRI-conditional" devices). We performed a prospective, nonrandomized study to assess the safety of MRI at a magnetic field strength of 1.5 Tesla in 1509 patients who had a pacemaker (58%) or an implantable cardioverter-defibrillator (42%) that was not considered to be MRI-conditional (termed a "legacy" device). Overall, the patients underwent 2103 thoracic and nonthoracic MRI examinations that were deemed to be clinically necessary. The pacing mode was changed to asynchronous mode for pacing-dependent patients and to demand mode for other patients. Tachyarrhythmia functions were disabled. Outcome assessments included adverse events and changes in the variables that indicate lead and generator function and interaction with surrounding tissue (device parameters). No long-term clinically significant adverse events were reported. In nine MRI examinations (0.4%; 95% confidence interval, 0.2 to 0.7), the patient's device reset to a backup mode. The reset was transient in eight of the nine examinations. In one case, a pacemaker with less than 1 month left of battery life reset to ventricular inhibited pacing and could not be reprogrammed; the device was subsequently replaced. The most common notable change in device parameters (>50% change from baseline) immediately after MRI was a decrease in P-wave amplitude, which occurred in 1% of the patients. At long-term follow-up (results of which were available for 63% of the patients), the most common notable changes from baseline were decreases in P-wave amplitude (in 4% of the patients), increases in atrial capture threshold (4%), increases in right ventricular capture threshold (4%), and increases in left ventricular capture threshold (3%). The observed changes in lead parameters

  12. Migrant breast cancer patients and their participation in genetic counseling : results from a registry-based study

    NARCIS (Netherlands)

    Baars, J E; van Dulmen, A M; Velthuizen, M E; Theunissen, E B M; Vrouenraets, B C; Kimmings, A N; van Dalen, T; van Ooijen, B; Witkamp, A J; van der Aa, M A; Ausems, M G E M

    Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of

  13. Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study.

    NARCIS (Netherlands)

    Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.M.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.E.M.

    2016-01-01

    Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of

  14. Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study

    NARCIS (Netherlands)

    Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.

    2016-01-01

    Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of

  15. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants, and perspectives of patients and healthcare professionals.

    OpenAIRE

    Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.

    2017-01-01

    Abstract Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients’ participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 ...

  16. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    Science.gov (United States)

    Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

    2014-12-01

    Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

  17. [Molecular genetic analysis and clinical aspects of patients with hereditary hemochromatosis].

    Science.gov (United States)

    Lange, U; Teichmann, J; Dischereit, G

    2014-08-01

    The purpose of the study was to perform a molecular genetic analysis and to document clinical aspects in patients with hereditary hemochromatosis. The study included 33 outpatients (23 males average age 50.6 years and 10 females average age 60.6 years) with a disorder of iron metabolism (transferrin saturation > 75 %) as confirmation of hemochromatosis who were subjected to molecular genetic and clinical analyses. A homozygous mutation of the hemochromatosis (HFE) gene (C282YY) was detected in 63.6 %, a compound heterozygous mutation (C282Y/H63D) in 30.3% and no mutation of the HFE gene was detected in 6.1 %. The following organ manifestations could be objectified: arthralgia (78.8 %), liver disease (39.9 %), skin hyperpigmentation (30.3 %), osteoporosis (24.2 %), diabetes mellitus (24.2 %) and cardiomyopathy (12.1 %). Comparison between patients with heterozygous and homozygous hemochromatosis revealed the following differences: compound heterozygote patients presented less frequently with osteoarthritis of the metacarpophalangeal (MCP) joints and hands (85.7 %/71.4 % homozygotes vs. 60 %/60 % heterozygotes). Osteoarthritis of the shoulder joints and osteoporosis as well as hypothyroidism were more frequent in compound heterozygote patients, whereas osteoarthritis of the knee and hip joints as well as liver disease were more common in homozygote patients. No differences between both groups were seen with respect to the clinical manifestations of cardiomyopathy and diabetes mellitus. Prevalent causes of death in hereditary hemochromatosis are heart failure, liver disease (cirrhosis and hepatocellular carcinoma) and portal hypertension. Therefore, an early diagnosis, adequate therapy and genetic screening of family members are of great importance. Medicinal treatment will only effectively prevent deleterious organ involvement and subsequent complications if initiated at an early stage. Furthermore, an overview of the current data is given.

  18. Multivariate imaging-genetics study of MRI gray matter volume and SNPs reveals biological pathways correlated with brain structural differences in Attention Deficit Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Sabin Khadka

    2016-07-01

    Full Text Available Background: Attention Deficit Hyperactivity Disorder (ADHD is a prevalent neurodevelopmental disorder affecting children, adolescents, and adults. Its etiology is not well-understood, but it is increasingly believed to result from diverse pathophysiologies that affect the structure and function of specific brain circuits. Although one of the best-studied neurobiological abnormalities in ADHD is reduced fronto-striatal-cerebellar gray matter volume, its specific genetic correlates are largely unknown. Methods: In this study, T1-weighted MR images of brain structure were collected from 198 adolescents (63 ADHD-diagnosed. A multivariate parallel independent component analysis technique (Para-ICA identified imaging-genetic relationships between regional gray matter volume and single nucleotide polymorphism data. Results: Para-ICA analyses extracted 14 components from genetic data and 9 from MR data. An iterative cross-validation using randomly-chosen sub-samples indicated acceptable stability of these ICA solutions. A series of partial correlation analyses controlling for age, sex, and ethnicity revealed two genotype-phenotype component pairs significantly differed between ADHD and non-ADHD groups, after a Bonferroni correction for multiple comparisons. The brain phenotype component not only included structures frequently found to have abnormally low volume in previous ADHD studies, but was also significantly associated with ADHD differences in symptom severity and performance on cognitive tests frequently found to be impaired in patients diagnosed with the disorder. Pathway analysis of the genotype component identified several different biological pathways linked to these structural abnormalities in ADHD. Conclusions: Some of these pathways implicate well-known dopaminergic neurotransmission and neurodevelopment hypothesized to be abnormal in ADHD. Other more recently implicated pathways included glutamatergic and GABA-eric physiological systems

  19. Multi-detector CT imaging in the postoperative orthopedic patient with metal hardware

    International Nuclear Information System (INIS)

    Vande Berg, Bruno; Malghem, Jacques; Maldague, Baudouin; Lecouvet, Frederic

    2006-01-01

    Multi-detector CT imaging (MDCT) becomes routine imaging modality in the assessment of the postoperative orthopedic patients with metallic instrumentation that degrades image quality at MR imaging. This article reviews the physical basis and CT appearance of such metal-related artifacts. It also addresses the clinical value of MDCT in postoperative orthopedic patients with emphasis on fracture healing, spinal fusion or arthrodesis, and joint replacement. MDCT imaging shows limitations in the assessment of the bone marrow cavity and of the soft tissues for which MR imaging remains the imaging modality of choice despite metal-related anatomic distortions and signal alteration

  20. Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.

    Science.gov (United States)

    Lima, Aline Dt; Alves, Vanessa R; Rocha, Andressa R; Martinhago, Ana C; Martinhago, Ciro; Donadio, Nilka; Dzik, Artur; Cavagna, Mario; Gebrim, Luiz H

    2018-03-01

    Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.

  1. Relationship between Trypanosoma brucei rhodesiense genetic diversity and clinical spectrum among sleeping sickness patients in Uganda.

    Science.gov (United States)

    Kato, Charles D; Mugasa, Claire M; Nanteza, Ann; Matovu, Enock; Alibu, Vincent P

    2017-10-27

    Human African trypanosomiasis (HAT) due to Trypanosoma brucei rhodesiense in East and southern Africa is reported to be clinically diverse. We tested the hypothesis that this clinical diversity is associated with a variation in trypanosome genotypes. Trypanosome DNA isolated from HAT patients was genotyped using 7 microsatellite markers directly from blood spotted FTA cards following a whole genome amplification. All markers were polymorphic and identified 17 multi-locus genotypes with 56% of the isolates having replicate genotypes. We did not observe any significant clustering between isolates and bootstrap values across major tree nodes were insignificant. When genotypes were compared among patients with varying clinical presentation or outcome, replicate genotypes were observed at both extremes showing no significant association between genetic diversity and clinical outcome. Our study shows that T. b. rhodesiense isolates are homogeneous within a focus and that observed clinical diversity may not be associated with parasite genetic diversity. Other factors like host genetics and environmental factors might be involved in determining clinical diversity. Our study may be important in designing appropriate control measures that target the parasite.

  2. "To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing.

    Science.gov (United States)

    Potrata, Barbara; McKibbin, Martin; Lim, Jennifer Nw; Hewison, Jenny

    2014-07-01

    Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.

  3. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

    Science.gov (United States)

    McCormack, Mark; Gui, Hongsheng; Ingason, Andrés; Speed, Doug; Wright, Galen E B; Zhang, Eunice J; Secolin, Rodrigo; Yasuda, Clarissa; Kwok, Maxwell; Wolking, Stefan; Becker, Felicitas; Rau, Sarah; Avbersek, Andreja; Heggeli, Kristin; Leu, Costin; Depondt, Chantal; Sills, Graeme J; Marson, Anthony G; Auce, Pauls; Brodie, Martin J; Francis, Ben; Johnson, Michael R; Koeleman, Bobby P C; Striano, Pasquale; Coppola, Antonietta; Zara, Federico; Kunz, Wolfram S; Sander, Josemir W; Lerche, Holger; Klein, Karl Martin; Weckhuysen, Sarah; Krenn, Martin; Gudmundsson, Lárus J; Stefánsson, Kári; Krause, Roland; Shear, Neil; Ross, Colin J D; Delanty, Norman; Pirmohamed, Munir; Carleton, Bruce C; Cendes, Fernando; Lopes-Cendes, Iscia; Liao, Wei-Ping; O'Brien, Terence J; Sisodiya, Sanjay M; Cherny, Stacey; Kwan, Patrick; Baum, Larry; Cavalleri, Gianpiero L

    2018-01-23

    To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs. We conducted a case-control genome-wide association study of autosomal genotypes, including Class I and II human leukocyte antigen (HLA) alleles, in 323 cases and 1,321 drug-tolerant controls from epilepsy cohorts of northern European and Han Chinese descent. Results from each cohort were meta-analyzed. We report an association between a rare variant in the complement factor H-related 4 ( CFHR4 ) gene and phenytoin-induced MPE in Europeans ( p = 4.5 × 10 -11 ; odds ratio [95% confidence interval] 7 [3.2-16]). This variant is in complete linkage disequilibrium with a missense variant (N1050Y) in the complement factor H ( CFH ) gene. In addition, our results reinforce the association between HLA-A*31:01 and carbamazepine hypersensitivity. We did not identify significant genetic associations with MPE among Han Chinese patients. The identification of genetic predictors of MPE in CFHR4 and CFH, members of the complement factor H-related protein family, suggest a new link between regulation of the complement system alternative pathway and phenytoin-induced hypersensitivity in European-ancestral patients. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  4. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals.

    Science.gov (United States)

    Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M

    2017-04-01

    Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent. The interviews were held in Arabic, Berber, Turkish, or Dutch by bilingual research assistants. Additionally, 14 breast cancer patients participated in one of two focus group meetings, and two focus groups were held with 11 healthcare professionals. SPSS and QSR Nvivo were used to examine the quantitative and qualitative data, respectively. Half of the total group of patients (N = 78) and 79% of patients eligible for genetic counseling and testing (N = 33) were aware of the possibility of genetic counseling. The most important determinants for nonparticipation in genetic counseling were experienced difficulties in patient-doctor communication, cultural factors (e.g., social norms), limited health literacy, limited knowledge of the family cancer history, and anxiety about cancer. Religious beliefs and knowing personal and family members' breast cancer risks were motives to obtain genetic counseling. Despite the fact that our study showed that Moroccan and Turkish women reported several personal motives to obtain genetic counseling and testing (GCT), patients and healthcare professionals experience significant language and health literacy difficulties, which make it harder to fully access health care such as genetic counseling and testing.

  5. Image Quality and Patient Dose Optimisation in Mammography in Slovakia

    International Nuclear Information System (INIS)

    Horvathova, M.; Nikodemova, D.; Prikazska, M.

    2003-01-01

    Breast cancer represents also in Slovakia the greatest cancer risk for women, with great incidence and mortality. Conventional film-screen mammography is still the primary breast imaging modality with increasing number of mammography units and mammography examinations. From the radiation protection point of view achievement of good practice in mammography department by implementation of quality assurance play an important role for reduction of patients doses. Introduction of QA needs trained and experienced staff and requires close collaboration between radiologists, medical physicist and radiographers. At the beginning of nineties at the Institute of Preventive and Clinical Medicine we started with a survey of mean glandular doses at 15 existing mammography units in the country. On the basis of a questionnaire in the year 1991 were performed 10 488 mammography examinations, where due to out of date mammography units the mean glandular dose reached more as 3 mGy. In the following years the claim to the modern mammography units kept growing and in the year 1999 the total number of 63 mammography units were operating in Slovakia providing about 101 471 mammography examinations. According to the alarming increase of the number of mammography examinations it is absolutely necessary to work out criteria and principles for Quality Control at mammography workplaces in our country and make it obligatory for the staff of all mammography units. Summarising the CRP results it can be stated that they: 1) Initiated the suggestion of unified QA/QC criteria in mammography and the urgent need to implement them into the national program of radiology image quality improvement; 2) Remitted on unhomogenity not only in the equipment outfit but also in the procedure of evaluation of the measured parameters and imaging quality; 3) Revealed the shortcomings in the everyday practice of mammography units which can be removed only by comprehensive by training of personal in imaging radiology

  6. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent : participation determinants and perspectives of patients and healthcare professionals

    NARCIS (Netherlands)

    Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M

    2017-01-01

    Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare

  7. Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease : a molecular and genetic association study

    NARCIS (Netherlands)

    Zewinger, Stephen; Kleber, Marcus E.; Tragante Do O, V; McCubrey, Raymond O.; Schmidt, Amand F.; Direk, Kenan; Laufs, Ulrich; Werner, Christian; Koenig, Wolfgang; Rothenbacher, Dietrich; Mons, Ute; Breitling, Lutz P; Brenner, Herrmann; Jennings, Richard T.; Petrakis, Ioannis; Triem, Sarah; Klug, Mira; Filips, Alexandra; Blankenberg, Stefan; Waldeyer, Christoph; Sinning, Christoph; Schnabel, Renate B.; Lackner, Karl J.; Vlachopoulou, Efthymia; Nygård, Ottar; Svingen, Gard Frodahl Tveitevåg; Pedersen, Eva Ringdal; Tell, Grethe S.; Sinisalo, Juha; Nieminen, Markku S.; Laaksonen, Reijo; Trompet, Stella; Smit, Roelof A.J.; Sattar, Naveed; Jukema, J. Wouter; Groesdonk, Heinrich V.; Delgado, Graciela; Stojakovic, Tatjana; Pilbrow, Anna P.; Cameron, Vicky A.; Richards, A. Mark; Doughty, Robert N.; Gong, Yan; Cooper-Dehoff, Rhonda M; Johnson, Julie A; Scholz, Markus; Beutner, Frank; Thiery, Joachim; Smith, J. Gustav; Vilmundarson, Ragnar O.; McPherson, Ruth; Stewart, Alexandre F. R.; Cresci, Sharon; Lenzini, Petra A.; Spertus, John A.; Olivieri, Oliviero; Girelli, Domenico; Martinelli, Nicola I.; Leiherer, Andreas; Saely, Christoph H.; Drexel, Heinz; Mündlein, Axel; Braund, Peter S; Nelson, Christopher P.; Samani, Nilesh J.; Kofink, Daniel; Hoefer, Imo E.; Pasterkamp, Gerard; Quyyumi, Arshed A.; Ko, Yi-An; Hartiala, Jaana A.; Allayee, Hooman; Tang, W. H. Wilson; Hazen, Stanley L.; Eriksson, Niclas; Held, Claes; Hagström, Emil; Wallentin, Lars; Åkerblom, Axel; Siegbahn, Agneta; Karp, Igor; Labos, Christopher; Pilote, Louise; Engert, James C.; Brophy, James M.; Thanassoulis, George; Bogaty, Peter; Szczeklik, Wojciech; Kaczor, Marcin; Sanak, Marek; Virani, Salim S.; Ballantyne, Christie M.; Lee, Vei Vei; Boerwinkle, Eric; Holmes, Michael V.; Horne, Benjamin D; Hingorani, Aroon D.; Asselbergs, Folkert W.; Patel, Riyaz S; Krämer, Bernhard K; Scharnagl, Hubert; Fliser, Danilo; März, Winfried; Speer, Thimoteus

    Background Lipoprotein(a) concentrations in plasma are associated with cardiovascular risk in the general population. Whether lipoprotein(a) concentrations or LPA genetic variants predict long-term mortality in patients with established coronary heart disease remains less clear. Methods We obtained

  8. Isotretinoin as a Possible Environmental Trigger to Autoimmunity in Genetically Susceptible Patients

    Directory of Open Access Journals (Sweden)

    Jocelyn Nugroho

    2017-01-01

    Full Text Available Introduction. Isotretinoin is commonly used to treat cystic acne. Definitive mechanisms of action for isotretinoin are not known though despite many side effects having been documented. Various case reports have noted autoimmune diseases succeeding isotretinoin treatment. Case Report. A 16-year-old female presents with symptoms of tremors, lack of focus, sleeplessness, emotional liability, bulging eyes, loose stools, heat intolerance, and missed menstrual periods. Symptoms manifested shortly after the patient finished a course of oral isotretinoin treatment for acne. Physical exam showed resting tremors, bilateral proptosis, hyperactivity, and rapid speech. A diagnosis of Graves’ Disease was made by correlating symptoms, physical exam findings, ultrasound, and positive family history of autoimmune thyroid disease. Conclusion. Emergence of autoimmune thyroid diseases depends upon genetic predisposition and environmental triggers. Mechanism of action for isotretinoin is not known but the drug may play a role in triggering autoimmunity in genetically susceptible individuals.

  9. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

    Science.gov (United States)

    Yang, Hang; Luo, Mingyao; Chen, Qianlong; Fu, Yuanyuan; Zhang, Jing; Qian, Xiangyang; Sun, Xiaogang; Fan, Yuxin; Zhou, Zhou; Chang, Qian

    2016-08-01

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  10. Severe myoclonic epilepsy of infancy (Dravet syndrome: Clinical and genetic features of nine Turkish patients

    Directory of Open Access Journals (Sweden)

    Meral Özmen

    2011-01-01

    Full Text Available Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A cause severe myoclonic epilepsy of infancy (SMEI. To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions : Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

  11. Aberrant DNA methylation associated with MTHFR C677T genetic polymorphism in cutaneous squamous cell carcinoma in renal transplant patients.

    LENUS (Irish Health Repository)

    Laing, M E

    2010-08-01

    Changes in genomic DNA methylation associated with cancer include global DNA hypomethylation and gene-specific hyper- or hypomethylation. We have previously identified a genetic variant in the MTHFR gene involved in the methylation pathway which confers risk for the development of squamous cell carcinoma (SCC) in renal transplant patients. This genetic variant has also been discovered to confer SCC risk in nontransplant patients with low folate status.

  12. Postcontrast T1-weighted brain magnetic resonance imaging in pediatric patients: comparison between postcontrast fat-suppression imaging and conventional T1-weighted or magnetization transfer imaging

    International Nuclear Information System (INIS)

    Lee, Choong Wook; Goo, Hyun Woo

    2004-01-01

    We wished to assess the merits and weaknesses of postcontrast fat-suppression (FS) brain MR imaging in children for the evaluation of various enhancing lesions as compared with postcontrast conventional T1-weighted or magnetization transfer (MT) imaging. We reviewed the records of those patients with enhancing lesions on brain MR imaging who had undergone both FS imaging and one of the conventional T1-weighted or MT imaging as a post-contrast T1-weighted brain MR imaging. Thirty-one patients (21 male, 10 female; mean age, 8.7 years) with 38 enhancing lesions (18 intra-axial, 16 extra-axial and 4 orbital locations) were included in this study. There were 27 pairs of FS and conventional imagings, and 13 pairs of FS and MT imagings available for evaluation. Two radiologists visually assessed by consensus the lesions' conspicuity, and they also looked for the presence of flow or susceptibility artifacts in a total of 40 pairs of MR imagings. For 19 measurable lesions (14 pairs of FS and conventional T1-weighted imagings, 5 pairs of FS and MT imagings), the contrast ratios between the lesion and the normal brain ([SIlesion-SIwater]/[SInormal brain-SIwater]) were calculated and compared. Compared with conventional imaging, the lesion conspicuity on FS imaging was better in 10 cases (7 extra-axial lesions, 2 orbital lesions and 1 fat-containing intra-axial lesion), equal in 16 cases, and worse in one case. Compared with MT imaging, the lesion conspicuity on FS imaging was better in 3 cases (2 extra-axial lesions and 1 intra-axial lesion), equal in 8 cases, and worse in 2 cases. Image quality of FS imaging was compromised by flow or susceptibility artifacts for 7 patients. The contrast ratios for FS imaging were not significantly different from those for conventional imaging (2.2±0.7 vs. 2.2±0.6, respectively, p=0.914) and they were significantly lower than those for MT imaging (2.4±0.8 vs. 4.5±1.5, respectively, p=0.018). Postcontrast FS brain MR imaging appears to be

  13. Preliminary genetic imaging study of the association between estrogen receptor-α gene polymorphisms and harsh human maternal parenting.

    Science.gov (United States)

    Lahey, Benjamin B; Michalska, Kalina J; Liu, Chunyu; Chen, Qi; Hipwell, Alison E; Chronis-Tuscano, Andrea; Waldman, Irwin D; Decety, Jean

    2012-09-06

    A failure of neural changes initiated by the estrogen surge in late pregnancy to reverse the valence of infant stimuli from aversive to rewarding is associated with dysfunctional maternal behavior in nonhuman mammals. Estrogen receptor-α plays the crucial role in mediating these neural effects of estrogen priming. This preliminary study examines associations between estrogen receptor-α gene polymorphisms and human maternal behavior. Two polymorphisms were associated with human negative maternal parenting. Furthermore, hemodynamic responses in functional magnetic resonance imaging to child stimuli in neural regions associated with social cognition fully mediated the association between genetic variation and negative parenting. This suggests testable hypotheses regarding a biological pathway between genetic variants and dysfunctional human maternal parenting. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  14. In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

    International Nuclear Information System (INIS)

    Daldrup-Link, Heike E.; Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J.; Rudelius, Martina; Piontek, Guido; Schlegel, Juergen; Piert, Morand; Uherek, Christoph; Wels, Winfried

    2005-01-01

    The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P 6 NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10 6 parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently labeled with clinically applicable iron-oxide contrast

  15. In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Daldrup-Link, Heike E. [UCSF Medical Center, Department of Radiology, San Francisco, CA (United States); Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J. [Technical University Munich, Department of Radiology, Munich (Germany); Rudelius, Martina; Piontek, Guido; Schlegel, Juergen [Technical University Munich, Institute of Pathology, Division of Neuropathology, Munich (Germany); Piert, Morand [Technical University Munich, Department of Nuclear Medicine, Munich (Germany); Uherek, Christoph; Wels, Winfried [University of Frankfurt, Georg Speyer House, Frankfurt (Germany)

    2005-01-01

    The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P<0.05). After intravenous injection of 5 x 10{sup 6} NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10{sup 6} parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently

  16. Local-regional control in breast cancer patients with a possible genetic predisposition

    International Nuclear Information System (INIS)

    Freedman, Laura M.; Buchholz, Thomas A.; Thames, Howard D.; Strom, Eric A.; McNeese, Marsha D.; Hortobagyi, Gabriel N.; Singletary, S. Eva; Heaton, Keith M.; Hunt, Kelly K.

    2000-01-01

    Purpose: Local control rates for breast cancer in genetically predisposed women are poorly defined. Because such a small percentage of breast cancer patients have proven germline mutations, surrogates, such as a family history for breast cancer, have been used to examine this issue. The purpose of this study was to evaluate local-regional control following breast conservation therapy (BCT) in patients with bilateral breast cancer and a breast cancer family history. Methods and Materials: We retrospectively reviewed records of all 58 patients with bilateral breast cancer and a breast cancer family history treated in our institution between 1959 and 1998. The primary surgical treatment was a breast-conserving procedure in 55 of the 116 breast cancer cases and a mastectomy in 61. The median follow-up was 68 months for the BCT patients and 57 months for the mastectomy-treated patients. Results: Eight local-regional recurrences occurred in the 55 cases treated with BCT, resulting in 5- and 10-year actuarial local-regional control rates of 86% and 76%, respectively. In the nine cases that did not receive radiation as a component of their BCT, four developed local-regional recurrences (5- and 10-year local-regional control rates of BCT without radiation: 49% and 49%). The 5- and 10-year actuarial local-regional control rates for the 46 cases treated with BCT and radiation were 94% and 83%, respectively. In these cases, there were two late local recurrences, developing at 8 years and 9 years, respectively. A log rank comparison of radiation versus no radiation actuarial data was significant at p = 0.009. In the cases treated with BCT, a multivariate analysis of radiation use, patient age, degree of family history, margin status, and stage revealed that only the use of radiation was associated with improved local control (Cox regression analysis p = 0.021). The 10-year actuarial rates of local-regional control following mastectomy with and without radiation were 91% and 89

  17. Genetic and infectious profiles influence cerebrospinal fluid IgG abnormality in Japanese multiple sclerosis patients.

    Directory of Open Access Journals (Sweden)

    Satoshi Yoshimura

    Full Text Available BACKGROUND: Abnormal intrathecal synthesis of IgG, reflected by cerebrospinal fluid (CSF oligoclonal IgG bands (OBs and increased IgG index, is much less frequently observed in Japanese multiple sclerosis (MS cohorts compared with Western cohorts. We aimed to clarify whether genetic and common infectious backgrounds influence CSF IgG abnormality in Japanese MS patients. METHODOLOGY: We analyzed HLA-DRB1 alleles, and IgG antibodies against Chlamydia pneumoniae, Helicobacter pylori, Epstein-Barr virus nuclear antigen (EBNA, and varicella zoster virus (VZV in 94 patients with MS and 367 unrelated healthy controls (HCs. We defined CSF IgG abnormality as the presence of CSF OBs and/or increased IgG index (>0.658. PRINCIPAL FINDINGS: CSF IgG abnormality was found in 59 of 94 (62.8% MS patients. CSF IgG abnormality-positive patients had a significantly higher frequency of brain MRI lesions meeting the Barkhof criteria compared with abnormality-negative patients. Compared with HCs, CSF IgG abnormality-positive MS patients showed a significantly higher frequency of DRB1 1501, whereas CSF IgG abnormality-negative patients had a significantly higher frequency of DRB1 0405. CSF IgG abnormality-positive MS patients had a significantly higher frequency of anti-C. pneumoniae IgG antibodies compared with CSF IgG abnormality-negative MS patients, although there was no difference in the frequency of anti-C. pneumoniae IgG antibodies between HCs and total MS patients. Compared with HCs, anti-H. pylori IgG antibodies were detected significantly less frequently in the total MS patients, especially in CSF IgG abnormality-negative MS patients. The frequencies of antibodies against EBNA and VZV did not differ significantly among the groups. CONCLUSIONS: CSF IgG abnormality is associated with Western MS-like brain MRI features. DRB1 1501 and C. pneumoniae infection confer CSF IgG abnormality, while DRB1 0405 and H. pylori infection are positively and negatively

  18. Survey of image quality and patient dose for computed tomography

    International Nuclear Information System (INIS)

    Augusto, Fernando Mecca

    2009-01-01

    The aim of this work is to evaluate the dose index and the image quality in seventeen computed tomography scanners installed in radiology departments at the city of Rio de Janeiro. The American College of Radiology (ACR) accreditation phantom (Gammex, 464) was used for the image quality evaluation. The following parameters were investigated according to the procedure manual of the ACR phantom: CT number calibration, exactitude of the slice thickness, low and high contrast resolution, uniformity, noise and artifacts. Despite of the CT number accuracy, only one scanner passed in the test. The low contrast resolution and the uniformity criteria were not accomplished in two different scanners. The conformity for the criteria established for slice width and high contrast was not verified in 16% and 11 % of the equipment respectively. The noise, expressed as a standard deviation measured in the center of the image in an adult abdomen protocol, ranged from 2.8 to 9.5. The ACR criteria of the accreditation program were not accomplished in the sample evaluated. Some parameters failed are essential to assure the diagnostic accuracy. For the head scans CTDI 100,VOL values varied between 9 and 109 mGy and the DLP from 160 to 2000 mGy cm for adults. Values for abdomen scans varied between 8 and 94 mGy and the DLP from 180 to 3700 mGy cm for adults, and CTDI 100,VOL from 3 to 54 mGy and DLP from 46 to 1300 mGy cm for children. Similar ranges were found for hi-resolution chest scans. These results are compatibles with those from reported literature and indicate a large potential for optimization and dose reduction, specially in pediatric patients. (author)

  19. Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Lars A. Dejgaard

    2017-12-01

    Full Text Available Data presented in this paper are supplementary material to our study “Vigorous exercise in patients with hypertrophic cardiomyopathy” [1]. The current article presents supplementary data on collection and analyses of exercise parameters and genetic data in the original research article. Keywords: Hypertrophic cardiomyopathy, Exercise, Genetics, Arrhythmia

  20. Two-Dimensional Image Fusion of Planar Bone Scintigraphy and Radiographs in Patients with Clinical Scaphoid Fracture: An Imaging Study

    DEFF Research Database (Denmark)

    Henriksen, O.M.; Lonsdale, M.N.; Jensen, T.D.

    2008-01-01

    . Bone scintigraphy is highly sensitive for the detection of fractures, but exact localization of scintigraphic lesions may be difficult and can negatively affect diagnostic accuracy. Purpose: To investigate the influence of image fusion of planar bone scintigraphy and radiographs on image interpretation......Background: Although magnetic resonance imaging (MRI) is now considered the gold standard in second-line imaging of patients with suspected scaphoid fracture and negative radiographs, bone scintigraphy can be used in patients with pacemakers, metallic implants, or other contraindications to MRI....... Conclusion: Image fusion of planar bone scintigrams and radiographs has a significant influence on image interpretation and increases both diagnostic confidence and interobserver agreement Udgivelsesdato: 2008/12/3...

  1. Radiological imaging in patients with low back pain and sciatica

    International Nuclear Information System (INIS)

    Dullerud, R.

    1999-01-01

    Low back pain and sciatica are among the most common medical problems in Western countries, affecting up to 80% of the population at some time during their lives. Plain radiography is still a sensitive method in degenerative spinal disease and for the identification of spondylolysis and destructions as well as transitional vertebra and other anomalies in the lumbosacral region. In lumbar disk herniation CT and MR have higher sensitivity than lumbar myelography and should be used as the primary imaging methods. Myelography is still the method of choice in lumbar spinal stenosis. Myelography should also be considered in patients with poor consistency between CT and MR findings and the clinical presentation. Postoperatively MR is superior to CT and myelography for distinguishing between scar tissue and recurrent disk herniation

  2. Whole-body MR imaging for patients with rheumatism

    Energy Technology Data Exchange (ETDEWEB)

    Weckbach, Sabine [Department of Clinical Radiology and Nuclear Medicine, Unversity Hospital Mannheim, Medical Faculty Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim (Germany)], E-mail: sabine.weckbach@umm.de

    2009-06-15

    WB-MRI in rheumatic diseases is still an emerging imaging tool. So far, WB-MRI in rheumatism is mainly used in seronegative spondyloarthropathies. In these diseases it has the ability to visualize the majority of involved joints and soft tissue structures (both active inflammatory changes and chronic structural abnormalities) in one examination, making it suitable for imaging of different forms of spondylopathies, allowing different types of joint involvement to be recognized and assessing both the acute symptoms of disease and the longer-term consequences. Its role in daily practice is not yet clear. WB-MRI is not recommended as a first line investigation in every patient suffering from a form of spondyloarthropathy, but may add important information in difficult cases. Moreover, WB-MRI might obtain a stronger role in the early diagnosis of spondyloarthritides and in the assessment of treatment response. Other rheumatic diseases where WB-MRI may play a role in the future are polymyositis/dermatomyositis, CRMO and certain forms of systemic vasculitis. WB-MRI in rheumatism is a promising tool with great potential, however further systematic evaluation of its abilities and limitations in different forms of rheumatic diseases is awaited.

  3. Whole-body MR imaging for patients with rheumatism

    International Nuclear Information System (INIS)

    Weckbach, Sabine

    2009-01-01

    WB-MRI in rheumatic diseases is still an emerging imaging tool. So far, WB-MRI in rheumatism is mainly used in seronegative spondyloarthropathies. In these diseases it has the ability to visualize the majority of involved joints and soft tissue structures (both active inflammatory changes and chronic structural abnormalities) in one examination, making it suitable for imaging of different forms of spondylopathies, allowing different types of joint involvement to be recognized and assessing both the acute symptoms of disease and the longer-term consequences. Its role in daily practice is not yet clear. WB-MRI is not recommended as a first line investigation in every patient suffering from a form of spondyloarthropathy, but may add important information in difficult cases. Moreover, WB-MRI might obtain a stronger role in the early diagnosis of spondyloarthritides and in the assessment of treatment response. Other rheumatic diseases where WB-MRI may play a role in the future are polymyositis/dermatomyositis, CRMO and certain forms of systemic vasculitis. WB-MRI in rheumatism is a promising tool with great potential, however further systematic evaluation of its abilities and limitations in different forms of rheumatic diseases is awaited.

  4. Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

    Directory of Open Access Journals (Sweden)

    E. L. Dadali

    2017-01-01

    Full Text Available Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6 patients (4 men, 2 women aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1 has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia. 

  5. Magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome

    International Nuclear Information System (INIS)

    Nomura, Cesar Higa; Lima, Eduardo Carneiro; Cerri, Giovanni Guido; Leite, Claudia da Costa; Rosemberg, Sergio

    2003-01-01

    The objective of this study was to review the magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome. We evaluated eight patients with Hallervorden-Spatz syndrome using magnetic resonance imaging. The protocol included at least sagittal and axial T1-weighted images and axial and coronal T2-weighted images. Intravenous gadolinium was administered in a dose of 0.1 mmol/kg. Post-enhanced images were obtained at least in the axial and coronal planes. The results were: all patients presented a bilateral and symmetrical 'tiger-eye signal' on T2-weighted images, corresponding to central hyperintensity and peripheral hypointensity in the globi pallidus. FLAIR and diffusion images showed similar abnormalities. There was no gadolinium enhancement in any of the cases. We concluded that magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome are very typical and allow the diagnosis of the disease. (author)

  6. Clinical impacts of 3.0 Tesla magnetic resonance imaging in stroke patients

    International Nuclear Information System (INIS)

    Inoue, Takashi; Ogasawara, Kuniaki; Ogawa, Akira

    2004-01-01

    The progress of the magnetic resonance (MR) imaging in the cerebral stroke patients was remarkable, and it became possible to evaluate a brain perfusion or function. Here, we describe about the clinical application of the neuronal tracts and brain perfusion evaluation using 3.0 Tesla MR imaging. The subjects were patients with internal cerebral hemorrhage and major cerebral occlusive diseases. Three dimensional anisotropy contrast (3DAC) imaging and diffusion tensor imaging (DTI) were accepted to estimate the damages of neurnal tracts. Perfusion weighted images with the contrast medium were performed for a quantitative evaluation. The pyramidal tracts were depicted well with 3DAC imaging. Fractional anisotropy (FA) value generated from DTI can predict the outcome of the motor dysfunction in each patient at early stage. Cerebral blood volume calculated from perfusion weighted imaging (PWI) was correlated with and cerebral vascular reserve capacity. 3.0 Tesla MR imaging may develop in cerebral stroke patients in near future. (author)

  7. A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

    Science.gov (United States)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Tintelen, J Peter; van Langen, Irene M

    2015-11-01

    The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling. We performed a cohort study with pre- and post-counselling patient measurements using questionnaires, supplemented with evaluations of the group counselling format by the professionals involved. Patients from eight regional hospitals in the northern part of the Netherlands were included. Questionnaires comprised patient characteristics, psychological measures (personal perceived control (PPC), state and trait anxiety inventory (STAI)), and satisfaction with counsellors, counselling content and design. In total, 82 patients (mean age 57.5 year) attended one of 13 group sessions. Median PPC and STAI scores showed significantly higher control and lower anxiety after the counselling. Patients reported they were satisfied with the counsellors, and almost 75% of patients were satisfied with the group counselling. Regional professionals were also, overall, satisfied with the group sessions. The genetics professionals were less satisfied, mainly because of their perceived large time investment and less-than-expected group interaction. Hence, a group approach to cardiogenetic counselling is feasible, accessible, and psychologically effective, and could be one possible approach to counselling the increasing patient numbers in cardiogenetics.

  8. Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations.

    Science.gov (United States)

    Vieira-Machado, Camilla D; de Carvalho, Flavia M; Santana da Silva, Luiz C; Dos Santos, Sidney E; Martins, Claudia; Poletta, Fernando A; Mereb, Juan C; Vieira, Alexandre R; Castilla, Eduardo E; Orioli, Iêda M

    2016-08-01

    Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations. © 2016 Eur J Oral Sci.

  9. Introducing eHealth and other innovative options into clinical genetic patient care in view of increased efficiency and maintenance of quality of care : Patients' and providers' perspectives

    NARCIS (Netherlands)

    Otten, Ellen

    2015-01-01

    Innovations in clinical genetics patient care This year some 40,000 patients will visit a clinical geneticist. This number is increasing because there are ever-expanding possibilities for DNA testing. Most patients are seen individually in an outpatient clinic. But partly because the healthcare

  10. Imaging Intracellular pH in Live Cells with a Genetically-Encoded Red Fluorescent Protein Sensor

    OpenAIRE

    Tantama, Mathew; Hung, Yin Pun; Yellen, Gary

    2011-01-01

    Intracellular pH affects protein structure and function, and proton gradients underlie the function of organelles such as lysosomes and mitochondria. We engineered a genetically-encoded pH sensor by mutagenesis of the red fluorescent protein mKeima, providing a new tool to image intracellular pH in live cells. This sensor, named pHRed, is the first ratiometric, single-protein red fluorescent sensor of pH. Fluorescence emission of pHRed peaks at 610 nm while exhibiting dual excitation peaks at...

  11. Genetic Variations of Cytokines and Cytokine Receptors in Psoriasis Patients from China

    Directory of Open Access Journals (Sweden)

    Xiao-Lan Li

    2014-01-01

    Full Text Available Psoriasis is a chronic inflammatory and hyperproliferative skin disease affected by both genetic and environmental factors. The aim of the present study was to investigate polymorphisms in a candidate gene family of interleukin (IL in unrelated Chinese patients with psoriasis and control subjects without psoriasis. In this case-control study, 200 unrelated Chinese psoriasis patients and 298 age- and sex-matched control subjects were enrolled. Genomic DNA was prepared from peripheral blood obtained from all psoriasis patients and control subjects. We genotyped seven single-nucleotide polymorphisms (SNPs in candidate genes of six ILs: IL4, IL10, IL12B, IL13, IL15, and IL23R, which have been shown in the literature to be associated with psoriasis in other ethnic groups. Among the seven SNPs in the six IL genes studied, only the rs3212227 in the IL12B gene was found to be associated with psoriasis at genotypic level in the studied population. The C/C genotype in the IL12B gene is a protective factor of psoriasis (P = 0.0218; OR = 0.51; 95% CI: 0.27–0.96 in Chinese. Furthermore, the studied Chinese population has extremely low minor allele frequency for IL23R. Together, the data reveal unique genetic patterns in Chinese that may be in part responsible for the lower risk for psoriasis in this population.

  12. Genetic evolutionary taboo search for optimal marker placement in infrared patient setup

    International Nuclear Information System (INIS)

    Riboldi, M; Baroni, G; Spadea, M F; Tagaste, B; Garibaldi, C; Cambria, R; Orecchia, R; Pedotti, A

    2007-01-01

    In infrared patient setup adequate selection of the external fiducial configuration is required for compensating inner target displacements (target registration error, TRE). Genetic algorithms (GA) and taboo search (TS) were applied in a newly designed approach to optimal marker placement: the genetic evolutionary taboo search (GETS) algorithm. In the GETS paradigm, multiple solutions are simultaneously tested in a stochastic evolutionary scheme, where taboo-based decision making and adaptive memory guide the optimization process. The GETS algorithm was tested on a group of ten prostate patients, to be compared to standard optimization and to randomly selected configurations. The changes in the optimal marker configuration, when TRE is minimized for OARs, were specifically examined. Optimal GETS configurations ensured a 26.5% mean decrease in the TRE value, versus 19.4% for conventional quasi-Newton optimization. Common features in GETS marker configurations were highlighted in the dataset of ten patients, even when multiple runs of the stochastic algorithm were performed. Including OARs in TRE minimization did not considerably affect the spatial distribution of GETS marker configurations. In conclusion, the GETS algorithm proved to be highly effective in solving the optimal marker placement problem. Further work is needed to embed site-specific deformation models in the optimization process

  13. Comparison of Attitudes Regarding Preimplantation Genetic Diagnosis Among Patients with Hereditary Cancer Syndromes

    Science.gov (United States)

    Rich, Thereasa A.; Liu, Mei; Etzel, Carol J.; Bannon, Sarah A.; Mork, Maureen E.; Ready, Kaylene; Saraiya, Devki S.; Grubbs, Elizabeth G.; Perrier, Nancy D.; Lu, Karen H.; Arun, Banu K.; Woodard, Terri L.; Schover, Leslie R.; Litton, Jennifer K.

    2014-01-01

    Introduction Preimplantation Genetic Diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated awareness and acceptance of PGD among patients with hereditary cancer syndromes. Methods Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Results Of 370 respondents (38% return rate), 28% felt their syndrome impacted family planning, 24% were aware of PGD, 72% felt that PGD should be offered, 43% would consider using PGD, and 29% were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Conclusion Hereditary cancer patients' opinions about the acceptability of PGD are similar to those of genetics and ethical experts. Patients should be told about PGD given that most had not heard of PGD, but feel that PGD should be offered. PMID:24072553

  14. Clinical and genetic factors associated with suicide in mood disorder patients.

    Science.gov (United States)

    Antypa, Niki; Souery, Daniel; Tomasini, Mario; Albani, Diego; Fusco, Federica; Mendlewicz, Julien; Serretti, Alessandro

    2016-03-01

    Suicidality is a continuum ranging from ideation to attempted and completed suicide, with a complex etiology involving both genetic heritability and environmental factors. The majority of suicide events occur in the context of psychiatric conditions, preeminently major depression and bipolar disorder. The present study investigates clinical factors associated with suicide in a sample of 553 mood disorder patients, recruited within the 'Psy Pluriel' center, Centre Européen de Psychologie Médicale, and the Department of Psychiatry of Erasme Hospital (Brussels). Furthermore, genetic association analyses examining polymorphisms within COMT, BDNF, MAPK1 and CREB1 genes were performed in a subsample of 259 bipolar patients. The presence or absence of a previous suicide attempt and of current suicide risk were assessed. A positive association with suicide attempt was reported for younger patients, females, lower educated, smokers, those with higher scores on depressive symptoms and higher functional disability and those with anxiety comorbidity and familial history of suicidality in first- and second-degree relatives. Anxiety disorder comorbidity was the stronger predictor of current suicide risk. No associations were found with polymorphisms within COMT and BDNF genes, whereas significant associations were found with variations in rs13515 (MAPK1) and rs6740584 (CREB1) polymorphisms. From a clinical perspective, our study proposes several clinical characteristics, such as increased depressive symptomatology, anxiety comorbidity, functional disability and family history of suicidality, as correlates associated with suicide. Genetic risk variants in MAPK1 and CREB1 genes might be involved in a dysregulation of inflammatory and neuroplasticity pathways and are worthy of future investigation.

  15. SU-E-J-15: Automatically Detect Patient Treatment Position and Orientation in KV Portal Images

    Energy Technology Data Exchange (ETDEWEB)

    Qiu, J [Washington University in St Louis, Taian, Shandong (China); Yang, D [Washington University School of Medicine, St Louis, MO (United States)

    2015-06-15

    Purpose: In the course of radiation therapy, the complex information processing workflow will Result in potential errors, such as incorrect or inaccurate patient setups. With automatic image check and patient identification, such errors could be effectively reduced. For this purpose, we developed a simple and rapid image processing method, to automatically detect the patient position and orientation in 2D portal images, so to allow automatic check of positions and orientations for patient daily RT treatments. Methods: Based on the principle of portal image formation, a set of whole body DRR images were reconstructed from multiple whole body CT volume datasets, and fused together to be used as the matching template. To identify the patient setup position and orientation shown in a 2D portal image, the 2D portal image was preprocessed (contrast enhancement, down-sampling and couch table detection), then matched to the template image so to identify the laterality (left or right), position, orientation and treatment site. Results: Five day’s clinical qualified portal images were gathered randomly, then were processed by the automatic detection and matching method without any additional information. The detection results were visually checked by physicists. 182 images were correct detection in a total of 200kV portal images. The correct rate was 91%. Conclusion: The proposed method can detect patient setup and orientation quickly and automatically. It only requires the image intensity information in KV portal images. This method can be useful in the framework of Electronic Chart Check (ECCK) to reduce the potential errors in workflow of radiation therapy and so to improve patient safety. In addition, the auto-detection results, as the patient treatment site position and patient orientation, could be useful to guide the sequential image processing procedures, e.g. verification of patient daily setup accuracy. This work was partially supported by research grant from

  16. SU-E-J-15: Automatically Detect Patient Treatment Position and Orientation in KV Portal Images

    International Nuclear Information System (INIS)

    Qiu, J; Yang, D

    2015-01-01

    Purpose: In the course of radiation therapy, the complex information processing workflow will Result in potential errors, such as incorrect or inaccurate patient setups. With automatic image check and patient identification, such errors could be effectively reduced. For this purpose, we developed a simple and rapid image processing method, to automatically detect the patient position and orientation in 2D portal images, so to allow automatic check of positions and orientations for patient daily RT treatments. Methods: Based on the principle of portal image formation, a set of whole body DRR images were reconstructed from multiple whole body CT volume datasets, and fused together to be used as the matching template. To identify the patient setup position and orientation shown in a 2D portal image, the 2D portal image was preprocessed (contrast enhancement, down-sampling and couch table detection), then matched to the template image so to identify the laterality (left or right), position, orientation and treatment site. Results: Five day’s clinical qualified portal images were gathered randomly, then were processed by the automatic detection and matching method without any additional information. The detection results were visually checked by physicists. 182 images were correct detection in a total of 200kV portal images. The correct rate was 91%. Conclusion: The proposed method can detect patient setup and orientation quickly and automatically. It only requires the image intensity information in KV portal images. This method can be useful in the framework of Electronic Chart Check (ECCK) to reduce the potential errors in workflow of radiation therapy and so to improve patient safety. In addition, the auto-detection results, as the patient treatment site position and patient orientation, could be useful to guide the sequential image processing procedures, e.g. verification of patient daily setup accuracy. This work was partially supported by research grant from

  17. Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

    Science.gov (United States)

    Kothari, Cartik; Wack, Maxime; Hassen-Khodja, Claire; Finan, Sean; Savova, Guergana; O'Boyle, Megan; Bliss, Geraldine; Cornell, Andria; Horn, Elizabeth J; Davis, Rebecca; Jacobs, Jacquelyn; Kohane, Isaac; Avillach, Paul

    2017-09-01

    The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high-quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients. © 2017 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

  18. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    Science.gov (United States)

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

  19. Effect of quality control implementation on image quality of radiographic films and irradiation doses to patients

    International Nuclear Information System (INIS)

    Cheng Yuxi; Zhou Qipu; Ge Lijuan; Hou Changsong; Qi Xuesong; Yue Baorong; Wang Zuoling; Wei Kedao

    1999-01-01

    Objective: To study the changes in the image quality of radiographic films and the irradiation doses to patients after quality control (QC) implementation. Methods: The entrance surface doses (ESD) to patients measured with TLD and the image quality of radiographic films were evaluated on the basis of CEC image quality criteria. Results: The ESD to patients were significantly reduced after QC implementation (P 0.05), but the post-QC image quality was significantly improved in chest PA, lumbar spine AP and pelvis AP(P0.01 or P<0.05). Conclusion: Significantly reduced irradiation dose with improved image quality can be obtained by QC implementation

  20. Patient-specific estimation of detailed cochlear shape from clinical CT images

    DEFF Research Database (Denmark)

    Kjer, H Martin; Fagertun, Jens; Wimmer, Wilhelm

    2018-01-01

    of the detailed patient-specific cochlear shape from CT images. From a collection of temporal bone [Formula: see text]CT images, we build a cochlear statistical deformation model (SDM), which is a description of how a human cochlea deforms to represent the observed anatomical variability. The model is used...... for regularization of a non-rigid image registration procedure between a patient CT scan and a [Formula: see text]CT image, allowing us to estimate the detailed patient-specific cochlear shape. We test the accuracy and precision of the predicted cochlear shape using both [Formula: see text]CT and CT images...

  1. Patient positioning method based on binary image correlation between two edge images for proton-beam radiation therapy

    International Nuclear Information System (INIS)

    Sawada, Akira; Yoda, Kiyoshi; Numano, Masumi; Futami, Yasuyuki; Yamashita, Haruo; Murayama, Shigeyuki; Tsugami, Hironobu

    2005-01-01

    A new technique based on normalized binary image correlation between two edge images has been proposed for positioning proton-beam radiotherapy patients. A Canny edge detector was used to extract two edge images from a reference x-ray image and a test x-ray image of a patient before positioning. While translating and rotating the edged test image, the absolute value of the normalized binary image correlation between the two edge images is iteratively maximized. Each time before rotation, dilation is applied to the edged test image to avoid a steep reduction of the image correlation. To evaluate robustness of the proposed method, a simulation has been carried out using 240 simulated edged head front-view images extracted from a reference image by varying parameters of the Canny algorithm with a given range of rotation angles and translation amounts in x and y directions. It was shown that resulting registration errors have an accuracy of one pixel in x and y directions and zero degrees in rotation, even when the number of edge pixels significantly differs between the edged reference image and the edged simulation image. Subsequently, positioning experiments using several sets of head, lung, and hip data have been performed. We have observed that the differences of translation and rotation between manual positioning and the proposed method were within one pixel in translation and one degree in rotation. From the results of the validation study, it can be concluded that a significant reduction in workload for the physicians and technicians can be achieved with this method

  2. Relations of image quality in on-line portal images and individual patient parameters for pelvic field radiotherapy

    International Nuclear Information System (INIS)

    Heuvel, F. van den; Neve, W. de; Coghe, M.; Verellen, D.; Storme, G.

    1992-01-01

    The aims of the present study involving 566 pelvic fields on 13 patients were: 1. To study the machine- and patient-related factors influencing image quality. 2. To study the factors related to machine, patient and patient set-up, influencing the errors of field set-up. 3. To develop a method for predicting the camera settings. The OPI device consisted of a fluorescent screen scanned by a video camera. An image quality score on a scale 0-5 was given for 546/566 fields. In a univariate analysis, open field subtraction adversely affected the score. The image score of anterior fields was significantly better than that of posterior fields. Multivariate stepwise logistic regression showed that, in addition to anterior or posterior field and subtraction, gender was also a significant predictor of image score. Errors requiring field adjustments were detected on 289/530 (54.5%) evaluable fields or 229/278 (82.4%) evaluable patient set-ups. Multivariate logistic regression showed that the probability of performing an adjustment was significantly related to gender, image quality and AP-PA diameter. The magnitude of adjustments made in the lateral direction correlated significantly with patient bulk. The camera kV level with gain held constant showed an exponential dependency on dose rate at the image detector plate and can thus be predicted by treatment planning. (orig.)

  3. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

    Science.gov (United States)

    Uwineza, Annette; Hitayezu, Janvier; Murorunkwere, Seraphine; Ndinkabandi, Janvier; Kalala Malu, Celestin Kaputu; Caberg, Jean Hubert; Dideberg, Vinciane; Bours, Vincent; Mutesa, Leon

    2014-04-01

    Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients presenting a phenotype of Duchenne and Becker muscular dystrophies and six asymptomatic female carrier relatives using multiplex ligation-dependent probe amplification (MLPA). Our results revealed deletion of the exons 48-51 in one patient, an inherited deletion of the exons 8-21 in two brothers and a de novo deletion of the exons 46-50 in the fourth patient. No copy number variation was found in two patients. Only one female carrier presented exon deletion in the DMD gene. This is the first cohort of genetic analysis in Rwandan patients affected by Duchenne and Becker muscular dystrophies. This report confirmed that MLPA assay can be easily implemented in low-income countries.

  4. Genetic relationships between carcass cut weights predicted from video image analysis and other performance traits in cattle.

    Science.gov (United States)

    Pabiou, T; Fikse, W F; Amer, P R; Cromie, A R; Näsholm, A; Berry, D P

    2012-09-01

    The objective of this study was to quantify the genetic associations between a range of carcass-related traits including wholesale cut weights predicted from video image analysis (VIA) technology, and a range of pre-slaughter performance traits in commercial Irish cattle. Predicted carcass cut weights comprised of cut weights based on retail value: lower value cuts (LVC), medium value cuts (MVC), high value cuts (HVC) and very high value cuts (VHVC), as well as total meat, fat and bone weights. Four main sources of data were used in the genetic analyses: price data of live animals collected from livestock auctions, live-weight data and linear type collected from both commercial and pedigree farms as well as from livestock auctions and weanling quality recorded on-farm. Heritability of carcass cut weights ranged from 0.21 to 0.39. Genetic correlations between the cut traits and the other performance traits were estimated using a series of bivariate sire linear mixed models where carcass cut weights were phenotypically adjusted to a constant carcass weight. Strongest positive genetic correlations were obtained between predicted carcass cut weights and carcass value (min r g(MVC) = 0.35; max r(g(VHVC)) = 0.69), and animal price at both weaning (min r(g(MVC)) = 0.37; max r(g(VHVC)) = 0.66) and post weaning (min r(g(MVC)) = 0.50; max r(g(VHVC)) = 0.67). Moderate genetic correlations were obtained between carcass cut weights and calf price (min r g(HVC) = 0.34; max r g(LVC) = 0.45), weanling quality (min r(g(MVC)) = 0.12; max r (g(VHVC)) = 0.49), linear scores for muscularity at both weaning (hindquarter development: min r(g(MVC)) = -0.06; max r(g(VHVC)) = 0.46), post weaning (hindquarter development: min r(g(MVC)) = 0.23; max r(g(VHVC)) = 0.44). The genetic correlations between total meat weight were consistent with those observed with the predicted wholesale cut weights. Total fat and total bone weights were generally negatively correlated with carcass value, auction

  5. [Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

    Science.gov (United States)

    Wang, Huanhuan; Tang, Lifang; Zhang, Jingmin; Hu, Qin; Chen, Yingwei; Xiao, Bing

    2015-08-01

    To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies. Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results. Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies. The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.

  6. The genetic polymorphism and expression profiles of NLRP3 inflammasome in patients with chronic myeloid leukemia.

    Science.gov (United States)

    Zhang, Amin; Yu, Jie; Yan, Shuxin; Zhao, Xia; Chen, Chen; Zhou, Ying; Zhao, Xueyun; Hua, Mingqiang; Wang, Ruiqing; Zhang, Chen; Zhong, Chaoqin; He, Na; Ji, Chunyan; Ma, Daoxin

    2018-01-01

    NLRP3 inflammasome has been recently reported as an important risk factor in the development of cancer. But the relationship between polymorphisms of NLRP3 inflammasome related genes and chronic myeloid leukemia (CML) is rarely reported. Therefore, the aim of the present study was to investigate the association of five genetic polymorphisms (NLRP3, IL-1β, IL-18, CARD8 and NF-κB) in 267 CML patients and 344 healthy controls. We found that the AT genotype of CARD8 (rs2043211) was significantly higher compared to TT genotype in high and intermediate risk CML patients. IL-1β (rs16944) polymorphism in early molecular response at 6 months was marginally different, with more GG and less AA genotype in BCR-ABL IS >1% group. IL-18 (rs1946518) polymorphism was significantly different with more GG genotype in BCR-ABL IS >1% group at 6 months. We also demonstrated that WBC count of newly diagnosed patients carrying AG genotype was significantly higher than that of GG or AA genotype of IL-1β (rs16944). The onset age of patients carrying ins/ins genotype of NF-κB (rs28362491) was significantly older than that of ins/del and del/del genotype. Moreover, IL-1β or NLRP3 mRNA expression was decreased and IL-18 mRNA expression was increased significantly in CML patients compared with controls. In conclusion, the genetic polymorphisms of NLRP3 inflammasome may be served as potential predictors for CML. Copyright © 2017 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  7. Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition.

    LENUS (Irish Health Repository)

    Baeyens, A

    2002-12-02

    The chromosomal radiosensitivity of breast cancer patients with a known or putative genetic predisposition was investigated and compared to a group of healthy women. The chromosomal radiosensitivity was assessed with the G2 and the G0-micronucleus assay. For the G2 assay lymphocytes were irradiated in vitro with a dose of 0.4 Gy (60)Co gamma-rays after 71 h incubation, and chromatid breaks were scored in 50 metaphases. For the micronucleus assay lymphocytes were exposed in vitro to 3.5 Gy (60)Co gamma-rays at a high dose rate or low dose rate. 70 h post-irradiation cultures were arrested and micronuclei were scored in 1000 binucleate cells. The results demonstrated that the group of breast cancer patients with a known or putative genetic predisposition was on the average more radiosensitive than a population of healthy women, and this with the G2 as well as with the high dose rate and low dose rate micronucleus assay. With the G2 assay 43% of the patients were found to be radiosensitive. A higher proportion of the patients were radiosensitive with the micronucleus assay (45% with high dose rate and 61% with low dose rate). No correlation was found between the G2 and the G0-micronucleus chromosomal radiosensitivity. Out of the different subgroups considered, the group of the young breast cancer patients without family history showed the highest percentage of radiosensitive cases in the G2 (50%) as well as in the micronucleus assay (75-78%).

  8. The impact of exercise myocardial perfusion SPECT imaging on the selection of patients for coronary angiography

    International Nuclear Information System (INIS)

    Song Liping; He Zuoxiang; Liu Xiujie; Shi Rongfang; Liu Yunzhong; Tian Yueqin; Zhang Xiaoli; Qin Xuewen; Chen Jilin; Gao Runlin

    2001-01-01

    Objective: Exercise 99 Tc m -MIBI myocardial perfusion SPECT is accurate for the diagnosis of coronary artery disease (CAD). This study assessed the impact of exercise myocardial perfusion imaging on the selection of patients for coronary angiography. Methods: 2188 consecutive patients who underwent exercise myocardial perfusion SPECT in authors' department in 1999 were retrospectively analyzed. Among them, 1807 were men, 381 women (average age: 53.5 +- 7.2 years). Overall, exercise myocardial SPECT was normal in 1731 patients, abnormal in 359 cases, and equivocal in 98 patients. There were 141 patients who underwent CAG within 60 days after myocardial SPECT. Results: Overall, 12% of the patients with abnormal SPECT imaging underwent coronary angiography, but only 5% of the patients with a normal SPECT imaging did (P < 0.001). Among these 141 patients who underwent coronary angiography, significant coronary stenosis was present in 91% of the patients who had had an abnormal SPECT imaging, but only 8% of those who had had a normal SPECT imaging (P < 0.001). In those patients who underwent coronary angiography, revascularization rate was 25% for the patients with abnormal SPECT imaging, but only 1% for the patients with a normal SPECT imaging. Conclusion: The results of exercise myocardial perfusion SPECT have a significant impact on the selection of patients for coronary angiography and revascularization

  9. Functional MR imaging in the patients with complex partial seizures

    International Nuclear Information System (INIS)

    Chung, Jin Il; Chang, Kee Hyun; Song, In Chan; Goo, Jin Mo; Chung, Chun Kee; Lee, Sang Kun; Kim, Hong Dae; Han, Moon Hee; Kim, Sam Soo

    1999-01-01

    To evaluate the clinical usefulness of functional MR imaging (fMRI) for localization of the cerebral motor and sensory cortices and language center in patients with complex partial seizure. A total of 47 fMRIs were obtained in 14 patients (M:F = 9:5; age 15-50 years; 13 right handed and 1 ambidextrous) with complex partial seizure (6 temporal lobe epilepsy, 6 frontal lobe epilepsy, 1 occipitotemporal lobe epilepsy, 1 hemispheric epilepsy). Conventional MR imaging revealed no abnormality in four patients, localized cerebral atrophy in one, hippocampal sclerosis in four, and benign neoplasm in the remaining five. fMRI was performed on a 1.5 T MR scanner (GE Signa Horizon) using gradient-echo singleshot EPI. Nineteen fMRIs were obtained in eight patients who performed the language task, 16 fMRIs in ten who performed the motor task and 12 fMRIs in ten who performed the somatosensory task. The activation task consisted of three language tasks (silent picture naming , word generation from a character, categorical word generation), motor tasks (opposition of thumb and index finger for hand/dorsifexion or extension for foot), and sensory tasks (passive tactile stimulation of hand or foot using a toothbrush). The data were analyzed using z-score (p<0.05), clustering, and cross-correlation analysis based upon homemade software, IDL 5.1. The success rate for obtaining meaningful fMRI was evaluated and activated regions were assessed on the basis of each fMRI obtained during, language, motor, and somatosensory tasks. fMRI findings were compared with those of the Wada test (n = 7) for language lateralization and with invasive cortical mapping (n = 3) for the localization of eloquent cerebral cortex, especially around the central sulcus. The overall success rate of fMRI was 79 % (37/47); success rates of fMRI with language, sensory, and motor task were 89% (17/19), 83 % (10/12), and 63 % (10/16), respectively. Areas activated during language tasks (n=17) included the

  10. High-throughput genetic analysis in a cohort of patients with Ocular Developmental Anomalies

    Directory of Open Access Journals (Sweden)

    Suganya Kandeeban

    2017-10-01

    Full Text Available Anophthalmia and microphthalmia (A/M are developmental ocular malformations in which the eye fails to form or is smaller than normal with both genetic and environmental etiology. Microphthalmia is often associated with additional ocular anomalies, most commonly coloboma or cataract [1, 2]. A/M has a combined incidence between 1-3.2 cases per 10,000 live births in Caucasians [3, 4]. The spectrum of genetic abnormalities (chromosomal and molecular associated with these ocular developmental defects are being investigated in the current study. A detailed pedigree analysis and ophthalmic examination have been documented for the enrolled patients followed by blood collection and DNA extraction. The strategies for genetic analysis included chromosomal analysis by conventional and array based (affymetrix cytoscan HD array methods, targeted re-sequencing of the candidate genes and whole exome sequencing (WES in Illumina HiSEQ 2500. WES was done in families excluded for mutations in candidate genes. Twenty four samples (Microphthalmia (M-5, Anophthalmia (A-7,Coloboma-2, M&A-1, microphthalmia and coloboma / other ocular features-9 were initially analyzed using conventional Geimsa Trypsin Geimsa banding of which 4 samples revealed gross chromosomal aberrations (deletions in 3q26.3-28, 11p13 (N=2 and 11q23 regions. Targeted re sequencing of candidate genes showed mutations in CHX10, PAX6, FOXE3, ABCB6 and SHH genes in 6 samples. High throughput array based chromosomal analysis revealed aberrations in 4 samples (17q21dup (n=2, 8p11del (n=2. Overall, genetic alterations in known candidate genes are seen in 50% of the study subjects. Whole exome sequencing was performed in samples that were excluded for mutations in candidate genes and the results are discussed.

  11. Genes and genetic variations involved in the development of hypertension: focusing on a Greek patient cohort.

    Science.gov (United States)

    Kouremenos, Nikolaos; Zacharopoulou, Ioanna V; Triantafyllidi, Helen; Zacharopoulos, Georgios V; Mornos, Cristian; Filippatos, Gerasimos; Lekakis, John; Kremastinos, Dimitrios; Manolis, Athanasios I; Gavras, Haralambos

    2014-01-01

    Essential hypertension (HTN) is a multifactorial disease involving environmental, genetic and other factors. Over the past years, genetic studies of essential HTN have increased dramatically but the molecular mechanisms involved are still unknown. As part of a research program coordinated by Boston university (USA), we studied the role of various genes and single nucleotide polymorphisms (SNPs) in the inheritance or the onset of HTN in African-American, Caucasian-American and Greek families. Among 128 Greek families with a history of HTN, we studied 1474 people. Of the total examined, 273 men and 286 women were hypertensive. Based on 410 DNA samples from the hypertensive subjects, different SNPs were examined. An overall meta-analysis of the results from the Greek families, as well as a comparison with the 2 other groups (African-Americans and Caucasian-Americans), was performed. We report SNPs that are associated with the inheritance of HTN and are located either at the promoters of N-methyltransferase and catalase genes, or within the coding region of NEDD4L ubiquitin ligase gene, or SNPs in mitochondrial DNA of hypertensive probands. Furthermore, we clarified the role of hereditary predisposition in the development of HTN, showing that the presence of maternal HTN was significantly higher in African-Americans and Greeks compared to Caucasian-Americans (81.7%, 84.8%, and 65%), while the paternal HTN showed no such difference (50%, 48.3% and 44.9%), respectively. Although genetic factors that were correlated with HTN were identified, it was not possible to identify a single gene that should be targeted for the treatment of HTN. Nevertheless, the important role of the maternal hereditary predisposition to HTN in the Greek patients and the responsible genetic factors involved should be further examined.

  12. Building Imaging Institutes of Patient Care Outcomes: Imaging as a Nidus for Innovation in Clinical Care, Research, and Education.

    Science.gov (United States)

    Petrou, Myria; Cronin, Paul; Altaee, Duaa K; Kelly, Aine M; Foerster, Bradley R

    2018-05-01

    Traditionally, radiologists have been responsible for the protocol of imaging studies, imaging acquisition, supervision of imaging technologists, and interpretation and reporting of imaging findings. In this article, we outline how radiology needs to change and adapt to a role of providing value-based, integrated health-care delivery. We believe that the way to best serve our specialty and our patients is to undertake a fundamental paradigm shift in how we practice. We describe the need for imaging institutes centered on disease entities (eg, lung cancer, multiple sclerosis) to not only optimize clinical care and patient outcomes, but also spur the development of a new educational focus, which will increase opportunities for medical trainees and other health professionals. These institutes will also serve as unique environments for testing and implementing new technologies and for generating new ideas for research and health-care delivery. We propose that the imaging institutes focus on how imaging practices-including new innovations-improve patient care outcomes within a specific disease framework. These institutes will allow our specialty to lead patient care, provide the necessary infrastructure for state-of-the art-education of trainees, and stimulate innovative and clinically relevant research. Copyright © 2018 The Association of University Radiologists. All rights reserved.

  13. Somatic and genetic radiation exposure of the patient in digital subtraction angiography (DSA)

    International Nuclear Information System (INIS)

    Neufang, K.F.R.; Ewen, K.

    1986-01-01

    The somatic and genetic radiation exposure of patients undergoing Digital Subtraction Angiography (DSA) and traditional Film Arteriography (FA) of cranial, cervical, thoracic and abdominal vascular territories are compared. The radiation doses absorbed within the critical organs - red bone marrow, lung, thyroid gland and female breast - and in the gonads were measured using an anthropomorphic Alderson phantom. A Somatic Dose Index was calculated in order to estimate the somatic radiation risk. The somatic radiation exposure depends upon the location of the critical organs with respect to the entrance site of the x-ray beam, and can be reduced by an appropriate choice of the angiographic projection. Under this condition, the radiation exposure of the patient during DSA can be lower than during FA. For renal DSA an a.p. projection, the use of an abdominal compression device and careful caudal shielding of the field are advocated. (orig.)

  14. Patient Electronic Health Records as a Means to Approach Genetic Research in Gastroenterology.

    Science.gov (United States)

    Ananthakrishnan, Ashwin N; Lieberman, David

    2015-10-01

    Electronic health records (EHRs) are being increasingly utilized and form a unique source of extensive data gathered during routine clinical care. Through use of codified and free text concepts identified using clinical informatics tools, disease labels can be assigned with a high degree of accuracy. Analysis linking such EHR-assigned disease labels to a biospecimen repository has demonstrated that genetic associations identified in prospective cohorts can be replicated with adequate statistical power and novel phenotypic associations identified. In addition, genetic discovery research can be performed utilizing clinical, laboratory, and procedure data obtained during care. Challenges with such research include the need to tackle variability in quality and quantity of EHR data and importance of maintaining patient privacy and data security. With appropriate safeguards, this novel and emerging field of research offers considerable promise and potential to further scientific research in gastroenterology efficiently, cost-effectively, and with engagement of patients and communities. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

  15. Genetic taste markers and preferences for vegetables and fruit of female breast care patients.

    Science.gov (United States)

    Drewnowski, A; Henderson, S A; Hann, C S; Berg, W A; Ruffin, M T

    2000-02-01

    To explore links between genetic responsiveness to the bitter taste of 6-n-propylthiouracil (PROP) and self-reported preferences for vegetables and fruit of female breast care patients. PROP tasting was defined by detection thresholds and by perceived bitterness and hedonic ratings for PROP solutions. Nontasters, medium tasters, and supertasters were identified by their PROP thresholds and by the ratio of perceived bitterness of PROP to the perceived saltiness of sodium chloride solutions. Subjects rated preferences for vegetables and fruit using 9-point category scales. A clinical sample of 170 patients with newly diagnosed breast cancer and 156 cancer-free control subjects were recruited from the University of Michigan Breast Care Center. Principal components factor analysis, one-way analyses of variance, and Pearson correlations and chi 2 tests were used to analyze taste and food preference data. Genetic responsiveness to PROP was associated with lower acceptance of cruciferous and selected green and raw vegetables (P cancer prevention that emphasize consumption of cruciferous vegetables and bitter salad greens. Alternatively, PROP-sensitive women may seek to reduce bitter taste by adding fat, sugar, or salt.

  16. Therapeutic Vaccine Against HIV, Viral Variability, Cytotoxic T Lymphocyte Epitopes, and Genetics of Patients.

    Science.gov (United States)

    Fleury, Herve; Tumiotto, Camille; Bellecave, Pantxika; Recordon-Pinson, Patricia

    2018-01-01

    The scientific and medical community is seeking to cure HIV. Several pathways have been or are being explored including therapeutic vaccination. Viroimmunological studies on primary infection as well as on elite controllers have demonstrated the importance of the cytotoxic CD8 response and have mainly oriented research on vaccine constructs toward this type of response. The results of these trials are clearly not commensurate with the hope placed in them. Might there be one or more uncontrolled variables? The genetics of patients need to be taken into consideration, especially their human lymphocyte antigen (HLA) alleles. There is a need to find a balance between the conservation of cytotoxic T lymphocyte (CTL) epitopes and presentation by HLA alleles. The pathway is a narrow one between adaptation of the virus to HLA I restriction and the definition of conserved proviral CTL epitopes presentable by HLA I alleles. It is likely that the genetics of patients will need to be considered for HIV-1 vaccine studies and that multidisciplinary collaboration will be essential in this field of infectious diseases.

  17. [Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

    Science.gov (United States)

    Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting, Karin; Horsthemke, Bernhard; Török, Dóra; Szabó, András; Fekete, György

    2018-01-01

    According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69.

  18. Dosimetry of FDG PET/CT and other molecular imaging applications in pediatric patients

    International Nuclear Information System (INIS)

    Gelfand, Michael J.

    2009-01-01

    Effective doses for PET and SPECT imaging of molecular imaging agents depend on the radiopharmaceutical, administered activity and the weight of the patient. Effective doses for the accompanying CT scan depend on the CT protocol being used. CT protocols can be designed to produce diagnostic quality images, localization images or attenuation correction data without imaging. In each case, the co-registered molecular imaging examination (PET or SPECT) and the CT study must be acquired without patient movement. For PET/CT, attention to the respiratory phase during the CT study is also of critical importance. In addition to the molecular imaging agents 18 F-FDG and 123 I-MIBG that are frequently used in children, additional PET and SPECT imaging agents may have promise for molecular imaging in children. (orig.)

  19. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

    Science.gov (United States)

    Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

    2016-01-01

    The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

  20. Nephrogenic diabetes insipidus (NDI: clinical, laboratory and genetic characterization of five Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria Helena Vaisbich

    2009-05-01

    Full Text Available INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys using clinical, laboratory and molecular data. The mean age at diagnosis was 14.6 months (range 6 to 24 and 12.2 years (7.8 to 19 after the follow-up period. The mean period of follow-up was 132.2 ± 50.9 months. RESULTS: The geometric means of the z-scores of weight and stature were -4.5 and -3.6, respectively, at diagnosis. At the last medical appointment, the z-scores of weight and stature were -0.3 and -0.9, respectively. Three patients were diagnosed with ureterohydronephrosis and exhibited increased post-void urine volume. Mutations in the AVPR2 gene were found in all patients, and the carrier status was confirmed in four of five cases. Two unrelated children presented identical mutations (S167L in arginine vasopressin R2. Two of the patients had a mutation that has already been described in other Brazilian families (R337X, and one patient showed a de novo mutation (Y128D in arginine vasopressin R2, since his mother's molecular analysis was normal. The recurrence risk for this family was significantly reduced. CONCLUSION: This study reports the clinical and laboratory characterization of Nephrogenic diabetes insipidus and reiterates the importance of the genetic basis that underlies the disease diagnosis and genetic counseling.

  1. Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

    Science.gov (United States)

    Ciavarella, Michele; Miccoli, Sara; Prossomariti, Anna; Pippucci, Tommaso; Bonora, Elena; Buscherini, Francesco; Palombo, Flavia; Zuntini, Roberta; Balbi, Tiziana; Ceccarelli, Claudio; Bazzoli, Franco; Ricciardiello, Luigi; Turchetti, Daniela; Piazzi, Giulia

    2018-03-01

    Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30-50% of cases of polyposis remain genetically unsolved. Thus, the aim of this study was to investigate the genetic causes of unexplained adenomatous polyposis. Eight sporadic cases with >20 adenomatous polyps by 35 years of age or >50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis. APC gene mosaicism was investigated on DNA from colonic adenomas by Sanger sequencing or Whole Exome Sequencing (WES). Mosaicism extension to other tissues (peripheral blood, saliva, hair follicles) was evaluated using Sanger sequencing and/or digital PCR. APC second hit was investigated in adenomas from mosaic patients. WES was performed on DNA from peripheral blood to identify additional polyposis candidate variants. We identified APC mosaicism in 50% of patients. In three cases mosaicism was restricted to the colon, while in one it also extended to the duodenum and saliva. One patient without APC mosaicism, carrying an APC in-frame deletion of uncertain significance, was found to harbor rare germline variants in OGG1, POLQ, and EXO1 genes. In conclusion, our restrictive selection criteria improved the detection of mosaic APC patients. In addition, we showed for the first time that an oligogenic inheritance of rare variants might have a cooperative role in sporadic colorectal polyposis onset.

  2. NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

    Science.gov (United States)

    Nguyen, Hung Phuoc; Van Mossevelde, Sara; Dillen, Lubina; De Bleecker, Jan L; Moisse, Matthieu; Van Damme, Philip; Van Broeckhoven, Christine; van der Zee, Julie

    2018-01-01

    We evaluated the genetic impact of the amyotrophic lateral sclerosis (ALS) risk gene never in mitosis gene a-related kinase 1 (NEK1) in a Belgian cohort of 278 patients with ALS (n = 245) or ALS with frontotemporal dementia (ALS-FTD, n = 33) and 609 control individuals. We identified 2 ALS patients carrying a loss-of-function (LOF) mutation, p.Leu854Tyrfs*2 and p.Tyr871Valfs*17, that was absent in the control group. A third LOF variant p.Ser1036* was present in 2 sibs with familial ALS but also in an unrelated control person. Missense variants were common in both patients (3.6%) and controls (3.0%). The missense variant, p.Arg261His, which was previously associated with ALS risk, was detected with a minor allele frequency of 0.90% in patients compared to 0.33% in controls. Taken together, NEK1 LOF variants accounted for 1.1% of patients, although interpretation of pathogenicity and penetrance is complicated by the observation of occasional LOF variants in unaffected individuals (0.16%). Furthermore, enrichment of additional ALS gene mutations was observed in NEK1 carriers, suggestive of a "second hit" model were NEK1 variants may modify disease presentation of driving mutations. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  3. Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Swift, Oscar; Vilar, Enric; Rahman, Belinda; Side, Lucy; Gale, Daniel P

    2016-12-01

    No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.

  4. A comparison with result of normalized image to different template image on statistical parametric mapping of ADHD children patients

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Dong Ho [Kyonggi University, Suwon (Korea, Republic of); Park, Soung Ock; Kwon, Soo Il [Dongnam Health College, Suwon (Korea, Republic of); Joh, Chol Woo; Yoon, Seok Nam [Medical College, Ajou University, Suwon (Korea, Republic of)

    2003-06-15

    We studied 64 ADHD children patients group (4 {approx} 15 ys, mean age: 8 {+-} 2.6 ys. M/F: 52/12) and 12 normal group (6 {approx} 7 ys, mean age: 9.4 {+-} 3.4 ys, M/F: 8/4) of the brain had been used to analysis of blood flow between normal and ADHD group. For analysis of Children ADHD, we used 12 children's mean brain images and made Template image of SPM99 program. In crease of blood flow (P-value 0.05), the result of normalized images to Template image to offer from SPM99 program, showed significant cluster in inter-Hemispheric and occipital Lobe, in the case of normalized images to children template image, showed inter-hemispheric and parietal lobe.

  5. A comparison with result of normalized image to different template image on statistical parametric mapping of ADHD children patients

    International Nuclear Information System (INIS)

    Shin, Dong Ho; Park, Soung Ock; Kwon, Soo Il; Joh, Chol Woo; Yoon, Seok Nam

    2003-01-01

    We studied 64 ADHD children patients group (4 ∼ 15 ys, mean age: 8 ± 2.6 ys. M/F: 52/12) and 12 normal group (6 ∼ 7 ys, mean age: 9.4 ± 3.4 ys, M/F: 8/4) of the brain had been used to analysis of blood flow between normal and ADHD group. For analysis of Children ADHD, we used 12 children's mean brain images and made Template image of SPM99 program. In crease of blood flow (P-value 0.05), the result of normalized images to Template image to offer from SPM99 program, showed significant cluster in inter-Hemispheric and occipital Lobe, in the case of normalized images to children template image, showed inter-hemispheric and parietal lobe

  6. Education and Outreach for Breast Imaging and Breast Cancer Patients

    National Research Council Canada - National Science Library

    Farria, Dione

    2003-01-01

    .... This project evaluated the impact of visual educational aids during biopsy consent on patient understanding of the biopsy procedure, patient satisfaction with the biopsy experience, and patient anxiety...

  7. Imaging modalities and therapy options in patients with acute flank pain

    International Nuclear Information System (INIS)

    Grosse, A.; Grosse, C.

    2014-01-01

    The objective of this article is the description of imaging techniques for the evaluation of patients with acute flank pain and suspicion of urolithiasis and the impact of these techniques in the therapy management of patients with calculi. (orig.) [de

  8. Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?

    Science.gov (United States)

    Rollins, Caitlin K; Newburger, Jane W; Roberts, Amy E

    2017-10-01

    Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment. Advances in genetic technology have identified genetic causes of CHD in an increasing percentage of patients. Further, emerging data suggest substantial overlap between mutations in children with CHD and those that have previously been associated with neurodevelopmental disorders. Innate and patient factors appear to be more important in predicting neurodevelopmental outcome than medical/surgical variables. Future research is needed to establish a broader understanding of the mutations that contribute to neurodevelopmental disorders and the variations in expressivity and penetrance.

  9. Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

    Directory of Open Access Journals (Sweden)

    Nicolás Pilar

    2007-09-01

    Full Text Available Abstract The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.

  10. Use of myocardial imaging in the evaluation of patients with cardiovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Pitt, B.; Strauss, H.W.; Trhall, J.H.

    1980-01-01

    The role of radioisotope tracer techniques in the evaluation of patients with congenital heart disease, valvular heart disease, suspected myocardial infarction, ischemia or suspected ventricular dysfunction is reviewed. Thallium-201 myocardial imaging and exercise blood pool imaging and Technetium-88m pyrophosphate imaging of myocardial infarction are most commonly used.

  11. Body Image in Patients With Spinal Cord Injury During Inpatient Rehabilitation

    NARCIS (Netherlands)

    van Diemen, Tijn; van Leeuwen, Christel; van Nes, Ilse; Geertzen, Jan; Post, Marcel

    Objectives: (1) To investigate the course of body image in patients with spinal cord injury (SCI) during their first inpatient rehabilitation stay; and (2) to explore the association between demographic and injury-related variables and body image and the association between body image and

  12. Body image in patients with mental disorders : Characteristics, associations with diagnosis and treatment outcome

    NARCIS (Netherlands)

    Scheffers, Mia; van Busschbach, Jooske T; Bosscher, Ruud J; Aerts, Liza C; Wiersma, Durk; Schoevers, Robert A

    Objective: Despite the increasing recognition in clinical practice of body image problems in other than appearance related mental disorders, the question remains how aspects of body image are affected in different disorders. The aim of this study was to measure body image in patients with a variety

  13. Implementing Protocols to Improve Patient Safety in the Medical Imaging Department.

    Science.gov (United States)

    Carrizales, Gwen; Clark, Kevin R

    2015-01-01

    Patient safety is a focal point in healthcare because of recent changes issued by CMS. Hospital reimbursement rates have fallen, and these reimbursement rates are governed by CMS mandates regarding patient safety procedures. Reimbursement changes are reflected in the National Patient Safety Goals (NPSGs) administered annually by The Joint Commission. Medical imaging departments have multiple areas of patient safety concerns including effective handoff communication, proper patient identification, and safe medication/contrast administration. This literature review examines those areas of patient safety within the medical imaging department and reveals the need for continued protocol and policy changes to keep patients safe.

  14. Clinical potential for imaging in patients with asthma and other lung disorders.

    Science.gov (United States)

    DeBoer, Emily M; Spielberg, David R; Brody, Alan S

    2017-01-01

    The ability of lung imaging to phenotype patients, determine prognosis, and predict response to treatment is expanding in clinical and translational research. The purpose of this perspective is to describe current imaging modalities that might be useful clinical tools in patients with asthma and other lung disorders and to explore some of the new developments in imaging modalities of the lung. These imaging modalities include chest radiography, computed tomography, lung magnetic resonance imaging, electrical impedance tomography, bronchoscopy, and others. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  15. Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients

    KAUST Repository

    James, Tojo

    2018-01-06

    Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as Multiple Sclerosis (MS). Since a large proportion of expression quantitative trait loci (eQTLs) are context-specific, we performed RNA-Seq in peripheral blood mononuclear cells (PBMCs) from MS patients (n=145) to identify eQTLs in regions centered on 109 MS risk SNPs and seven associated HLA variants. We identified 77 statistically significant eQTL associations, including pseudogenes and non-coding RNAs. Thirty-eight out of 40 testable eQTL effects were colocalised with the disease association signal. Since many eQTLs are tissue specific, we aimed to detail their significance in different cell types. Approximately 70% of the eQTLs were replicated and characterized in at least one major PBMC derived cell type. Furthermore, 40% of eQTLs were found to be more pronounced in MS patients compared to noninflammatory neurological diseases patients. In addition, we found two SNPs to be significantly associated with the proportions of three different cell types. Mapping to enhancer histone marks and predicted transcription factor binding sites added additional functional evidence for eight eQTL regions. As an example, we found that rs71624119, shared with three other autoimmune diseases and located in a primed enhancer (H3K4me1) with potential binding for STAT transcription factors, significantly associates with ANKRD55 expression. This study provides many novel and validated targets for future functional characterization of MS and other diseases.

  16. When should genetic testing be performed in patients with neuroendocrine tumours?

    Science.gov (United States)

    O'Shea, Triona; Druce, Maralyn

    2017-12-01

    Neuroendocrine tumours (NETs) are a heterogenous group of tumours arising from neuroendocrine cells in several sites around the body. They include tumours of the gastroenteropancreatic system, phaeochromocytoma and paraganglioma and medullary thyroid cancer. In recent years, it has become increasingly apparent that a number of these tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing rapidly. Identifying which patients are likely to have a germline mutation enables clinicians to counsel patients adequately about their future disease risk, and allows for earlier detection of at-risk patients through family screening. The institution of screening and surveillance programmes may in turn lead to a major shift in presentation patterns for some of these tumours. In this review, we examine the features which may lead a clinician to suspect that a patient may have an inherited cause of a NET and we outline which underlying conditions should be suspected. We also discuss what type of screening may be appropriate in a variety of situations.

  17. Prevalence and genetic diversity of norovirus among patients with acute diarrhea in Guatemala.

    Science.gov (United States)

    Estévez, Alejandra; Arvelo, Wences; Hall, Aron J; López, María R; López, Beatriz; Reyes, Lissette; Moir, Juan Carlos; Gregoricus, Nicole; Vinjé, Jan; Parashar, Umesh D; Lindblade, Kim A

    2013-07-01

    Noroviruses (NoVs) are a leading cause of acute gastroenteritis outbreaks and sporadic cases of diarrhea in industrialized countries. To study the prevalence and genetic diversity of NoVs in Guatemala, stool specimens were collected from hospitalized and ambulatory patients presenting with diarrhea (≥3 loose or liquid stools in a 24-hr period) who were enrolled in a prospective surveillance system in the Departments of Santa Rosa (October 2007 to August 2010) and Quetzaltenango (August 2009 to August 2010), Guatemala. Specimens were tested for rotavirus, enteric bacteria, and parasites by routine methods and for genogroups I and II NoV by real-time reverse transcription-PCR. A total of 2,403 stool specimens were collected from hospitalized (n = 528) and ambulatory patients (n = 1,875). Overall, 341 (14%) samples tested positive for NoVs including 114 (22%) hospitalized and 227 (12%) ambulatory patients. NoVs disease peaked during the winter (November-January) months. Among the 341 NoVs-positive patients, 32 (9%) were also positive for rotavirus, 32 (9%) for bacteria, and 9 (3%) for protozoa. Nucleotide sequences were obtained from 84 samples collected from hospitalized children aged Guatemala. The findings highlight the need to implement laboratory diagnostics for NoVs to improve appropriate clinical management of diarrheal diseases and guide vaccine development. Copyright © 2013 Wiley Periodicals, Inc.

  18. The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

    Science.gov (United States)

    Liu, Z-J; Lin, H-X; Liu, G-L; Tao, Q-Q; Ni, W; Xiao, B-G; Wu, Z-Y

    2017-09-01

    Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p.Gln519Ilefs*9 mutation and 3 novel mutations, p.Gly515Valfs*14, p.Gly486Profs*30, and p.Arg498Alafs*32. Of the 4 FUS mutations, 2 were able to be confirmed as de novo mutations. The TARDBP mutation carrier showed a classic ALS phenotype. All patients with FUS mutations experienced limb weakness at an early age and developed bulbar symptoms during the disease course. FUS mutations have previously been associated with increased JALS disease progression, however, we found a large range 12 to 84 months in disease survival (mean 58.2 months). Our results justify future screening for variants in FUS as it remains the most frequent genetic determinant of early onset, JALS (found in 30% of our patients). © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Seasonal change detection of riparian zones with remote sensing images and genetic programming in a semi-arid watershed.

    Science.gov (United States)

    Makkeasorn, Ammarin; Chang, Ni-Bin; Li, Jiahong

    2009-02-01

    Riparian zones are deemed significant due to their interception capability of non-point source impacts and the maintenance of ecosystem integrity region wide. To improve classification and change detection of riparian buffers, this paper developed an evolutionary computational, supervised classification method--the RIparian Classification Algorithm (RICAL)--to conduct the seasonal change detection of riparian zones in a vast semi-arid watershed, South Texas. RICAL uniquely demonstrates an integrative effort to incorporate both vegetation indices and soil moisture images derived from LANDSAT 5 TM and RADARSAT-1 satellite images, respectively. First, an estimation of soil moisture based on RADARSAT-1 Synthetic Aperture Radar (SAR) images was conducted via the first-stage genetic programming (GP) practice. Second, for the statistical analyses and image classification, eight vegetation indices were prepared based on reflectance factors that were calculated as the response of the instrument on LANDSAT. These spectral vegetation indices were then independently used for discriminate analysis along with soil moisture images to classify the riparian zones via the second-stage GP practice. The practical implementation was assessed by a case study in the Choke Canyon Reservoir Watershed (CCRW), South Texas, which is mostly agricultural and range land in a semi-arid coastal environment. To enhance the application potential, a combination of Iterative Self-Organizing Data Analysis Techniques (ISODATA) and maximum likelihood supervised classification was also performed for spectral discrimination and classification of riparian varieties comparatively. Research findings show that the RICAL algorithm may yield around 90% accuracy based on the unseen ground data. But using different vegetation indices would not significantly improve the final quality of the spectral discrimination and classification. Such practices may lead to the formulation of more effective management strategies

  20. 3D printing of patient-specific anatomy: A tool to improve patient consent and enhance imaging interpretation by trainees.

    Science.gov (United States)

    Liew, Yaoren; Beveridge, Erin; Demetriades, Andreas K; Hughes, Mark A

    2015-01-01

    We report the use of three-dimensional or 3D printed, patient-specific anatomy as a tool to improve informed patient consent and patient understanding in a case of posterior lumbar fixation. Next, we discuss its utility as an educational tool to enhance imaging interpretation by neurosurgery trainees.

  1. Analysing patient queue system in an imaging department: a step toward total quality management

    International Nuclear Information System (INIS)

    Kumar, Pratik; Pandey, A.K.

    2008-01-01

    Medical imaging has become an inevitable part of any diagnosis and/or management of the disease. This has put tremendous work-load on the medical imaging machines. The crowd of waiting patients at any busy imaging centre or rooms has become a common scene. This is especially true for any Government hospital or medical college in India since they cater to bulk of patients. As a part of total quality management we attempted to record, investigate, analyse and suggest on the state of patients' queue system at radiological imaging rooms

  2. A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members.

    Science.gov (United States)

    Bosma, A R; Rigter, T; Weinreich, S S; Cornel, M C; Henneman, L

    2015-10-01

    Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Fourteen semi-structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced a lack of knowledge of MODY among healthcare professionals, in their social environment and in patient organizations. Additionally, problems with the reimbursement of medical expenses were reported. Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

  3. Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

    Science.gov (United States)

    Patel, Vimal; O'Mahony, Constantinos; Hughes, Derralynn; Rahman, Mohammad Shafiqur; Coats, Caroline; Murphy, Elaine; Lachmann, Robin; Mehta, Atul; Elliott, Perry M

    2015-06-01

    Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Some mutations are associated with prominent and, in many cases, exclusive cardiac involvement. The primary aims of this study were to determine the incidence of major cardiac events in AFD and to identify clinical and genetic predictors of adverse outcomes. We studied 207 patients with AFD (47% male, mean age 44 years, mean follow-up 7.1 years). Fifty-eight (28%) individuals carried mutations that have been previously associated with a cardiac predominant phenotype. Twenty-one (10%) developed severe heart failure (New York Heart Association functional class (NYHA) ≥3), 13 (6%) developed atrial fibrillation (AF), 13 (6%) received devices for the treatment of bradycardia; there were a total of 7 (3%) cardiac deaths. The incidence of the primary endpoint (a composite of new onset AF, NYHA ≥ 3 symptoms, device insertion for bradycardia and cardiac death) was 2.64 per 100 person-years (CI 1.78 to 3.77). Age (HR 1.04, CI 1.01 to 1.08, p=0.004), Mainz Severity Score Index score (HR 1.05, CI 1.01 to 1.09, p=0.012) and QRS duration (HR 1.03, CI 1.00 to 1.05, p=0.020) were significant independent predictors of the primary endpoint. The presence of a cardiac genetic variant did not predict the primary end point. AFD is associated with a high burden of cardiac morbidity and mortality. Adverse cardiac outcomes are associated with age, global disease severity and advanced cardiac disease but not the presence of cardiac genetic variants. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  4. Patient-directed Internet-based Medical Image Exchange: Experience from an Initial Multicenter Implementation.

    Science.gov (United States)

    Greco, Giampaolo; Patel, Anand S; Lewis, Sara C; Shi, Wei; Rasul, Rehana; Torosyan, Mary; Erickson, Bradley J; Hiremath, Atheeth; Moskowitz, Alan J; Tellis, Wyatt M; Siegel, Eliot L; Arenson, Ronald L; Mendelson, David S

    2016-02-01

    Inefficient transfer of personal health records among providers negatively impacts quality of health care and increases cost. This multicenter study evaluates the implementation of the first Internet-based image-sharing system that gives patients ownership and control of their imaging exams, including assessment of patient satisfaction. Patients receiving any medical imaging exams in four academic centers were eligible to have images uploaded into an online, Internet-based personal health record. Satisfaction surveys were provided during recruitment with questions on ease of use, privacy and security, and timeliness of access to images. Responses were rated on a five-point scale and compared using logistic regression and McNemar's test. A total of 2562 patients enrolled from July 2012 to August 2013. The median number of imaging exams uploaded per patient was 5. Most commonly, exams were plain X-rays (34.7%), computed tomography (25.7%), and magnetic resonance imaging (16.1%). Of 502 (19.6%) patient surveys returned, 448 indicated the method of image sharing (Internet, compact discs [CDs], both, other). Nearly all patients (96.5%) responded favorably to having direct access to images, and 78% reported viewing their medical images independently. There was no difference between Internet and CD users in satisfaction with privacy and security and timeliness of access to medical images. A greater percentage of Internet users compared to CD users reported access without difficulty (88.3% vs. 77.5%, P Internet-based image-sharing system is feasible and surpasses the use of CDs with respect to accessibility of imaging exams while generating similar satisfaction with respect to privacy. Copyright © 2015 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

  5. Genetic Determinants of Cisplatin Resistance in Patients With Advanced Germ Cell Tumors.

    Science.gov (United States)

    Bagrodia, Aditya; Lee, Byron H; Lee, William; Cha, Eugene K; Sfakianos, John P; Iyer, Gopa; Pietzak, Eugene J; Gao, Sizhi Paul; Zabor, Emily C; Ostrovnaya, Irina; Kaffenberger, Samuel D; Syed, Aijazuddin; Arcila, Maria E; Chaganti, Raju S; Kundra, Ritika; Eng, Jana; Hreiki, Joseph; Vacic, Vladimir; Arora, Kanika; Oschwald, Dayna M; Berger, Michael F; Bajorin, Dean F; Bains, Manjit S; Schultz, Nikolaus; Reuter, Victor E; Sheinfeld, Joel; Bosl, George J; Al-Ahmadie, Hikmat A; Solit, David B; Feldman, Darren R

    2016-11-20

    Purpose Owing to its exquisite chemotherapy sensitivity, most patients with metastatic germ cell tumors (GCTs) are cured with cisplatin-based chemotherapy. However, up to 30% of patients with advanced GCT exhibit cisplatin resistance, which requires intensive salvage treatment, and have a 50% risk of cancer-related death. To identify a genetic basis for cisplatin resistance, we performed whole-exome and targeted sequencing of cisplatin-sensitive and cisplatin-resistant GCTs. Methods Men with GCT who received a cisplatin-containing chemotherapy regimen and had available tumor tissue were eligible to participate in this study. Whole-exome sequencing or targeted exon-capture-based sequencing was performed on 180 tumors. Patients were categorized as cisplatin sensitive or cisplatin resistant by using a combination of postchemotherapy parameters, including serum tumor marker levels, radiology, and pathology at surgical resection of residual disease. Results TP53 alterations were present exclusively in cisplatin-resistant tumors and were particularly prevalent among primary mediastinal nonseminomas (72%). TP53 pathway alterations including MDM2 amplifications were more common among patients with adverse clinical features, categorized as poor risk according to the International Germ Cell Cancer Collaborative Group (IGCCCG) model. Despite this association, TP53 and MDM2 alterations predicted adverse prognosis independent of the IGCCCG model. Actionable alterations, including novel RAC1 mutations, were detected in 55% of cisplatin-resistant GCTs. Conclusion In GCT, TP53 and MDM2 alterations were associated with cisplatin resistance and inferior outcomes, independent of the IGCCCG model. The finding of frequent TP53 alterations among mediastinal primary nonseminomas may explain the more frequent chemoresistance observed with this tumor subtype. A substantial portion of cisplatin-resistant GCTs harbor actionable alterations, which might respond to targeted therapies. Genomic

  6. Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism.

    Science.gov (United States)

    Vandell, Alexander G; Walker, Joseph; Brown, Karen S; Zhang, George; Lin, Min; Grosso, Michael A; Mercuri, Michele F

    2017-11-01

    The aim of this study was to investigate whether genetic variants can identify patients with venous thromboembolism (VTE) at an increased risk of bleeding with warfarin. Hokusai-venous thromboembolism (Hokusai VTE), a randomised, multinational, double-blind, non-inferiority trial, evaluated the safety and efficacy of edoxaban versus warfarin in patients with VTE initially treated with heparin. In this subanalysis of Hokusai VTE, patients genotyped for variants in CYP2C9 and VKORC1 genes were divided into three warfarin sensitivity types (normal, sensitive and highly sensitive) based on their genotypes. An exploratory analysis was also conducted comparing normal responders to pooled sensitive responders (ie, sensitive and highly sensitive responders). The analysis included 47.7% (3956/8292) of the patients in Hokusai VTE. Among 1978 patients randomised to warfarin, 63.0% (1247) were normal responders, 34.1% (675) were sensitive responders and 2.8% (56) were highly sensitive responders. Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (pwarfarin dose (pwarfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252). In this study, CYP2C9 and VKORC1 genotypes identified patients with VTE at increased bleeding risk with warfarin. NCT00986154. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study

    Directory of Open Access Journals (Sweden)

    Bucerzan S

    2017-05-01

    Full Text Available Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45, particularly the cardiovascular ones (r=0.44. Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y

  8. Ethical issues in the use of genetic testing of patients with schizophrenia and their families.

    Science.gov (United States)

    DeLisi, Lynn E

    2014-05-01

    This review outlines the positive and negative aspects of DNA testing and provides an account of the issues particularly relevant to schizophrenia. Modern technology has changed the field of medicine so rapidly that patients and their families have become much more independent in their healthcare decisions than in the previous decade. Simply by finding information on the Internet, they gain knowledge about disease diagnosis, treatment options and their side-effects. No medical field likely has been more affected and more controversial than that of genetics. It is now possible to sequence the individual human genome and detect single nucleotide variations, microdeletions and duplications within it. Commercial companies have sprung up in a similar manner to the software or electronic industries and have begun to market direct-to-consumer DNA testing. Much of this may be performed to satisfy curiosity about one's ancestry; but commercially available results that appear incidentally can also be distributed to the consumer. Ethicists, genetics researchers, clinicians and government agencies are currently in discussion about concerns raised about commercially available DNA testing, while at the same time recognizing its value in some instances to be able to predict very serious disabilities.

  9. Effects of music on patient anxiety and discomfort during MR images

    International Nuclear Information System (INIS)

    Slifer, K.J.; Jones, K.P.; Zerhouni, E.A.; Cataldo, M.F.; Connor, R.

    1989-01-01

    This paper reports patient comfort during MR imaging investigated by comparing patients listening to music via air-tube earphones (n=35) with no music controls (n=63). Patients provided ratings before and after imaging. On all measures, the music group more often gave positive ratings. They experienced significantly less anxiety (t=1.74, P = .0479) and greater comfort (t = 3.95, P = .0002) than they had predicted, and they less often worried about medical problems during imaging (Fisher's exact test, P = .02). Music during MR imaging, therefore, may facilitate patient cooperation and throughput. Savings in staff time and revenue lost because of anxious patients would make audio equipment a cost-effective addition to imaging facilities

  10. Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

    International Nuclear Information System (INIS)

    Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

    2012-01-01

    Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

  11. COMPULS: design of a multicenter phenotypic, cognitive, genetic, and magnetic resonance imaging study in children with compulsive syndromes

    Directory of Open Access Journals (Sweden)

    Jilly Naaijen

    2016-10-01

    Full Text Available Abstract Background Compulsivity, the closely linked trait impulsivity and addictive behaviour are associated with several neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD, autism spectrum disorder (ASD, and obsessive compulsive disorder (OCD. All three disorders show impaired fronto-striatal functioning, which may be related to altered glutamatergic signalling. Genetic factors are also thought to play an important role in the aetiology of compulsivity-related disorders. Methods The COMPULS study is a multi-center study designed to investigate the relationship between the traits compulsivity, impulsivity, and, to a lesser extent, addictive behaviour within and across the neurodevelopmental disorders ADHD, ASD, and OCD. This will be done at the phenotypic, cognitive, neural, and genetic level. In total, 240 participants will take part in COMPULS across four different sites in Europe. Data collection will include diagnostic interviews, behavioural questionnaires, cognitive measures, structural, functional and spectral neuroimaging, and genome-wide genetic information. Discussion The COMPULS study will offer the unique opportunity to investigate several key aspects of compulsivity across a large cohort of ADHD, ASD and OCD patients.

  12. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  13. Optimized protocols for cardiac magnetic resonance imaging in patients with thoracic metallic implants.

    Science.gov (United States)

    Olivieri, Laura J; Cross, Russell R; O'Brien, Kendall E; Ratnayaka, Kanishka; Hansen, Michael S

    2015-09-01

    Cardiac magnetic resonance (MR) imaging is a valuable tool in congenital heart disease; however patients frequently have metal devices in the chest from the treatment of their disease that complicate imaging. Methods are needed to improve imaging around metal implants near the heart. Basic sequence parameter manipulations have the potential to minimize artifact while limiting effects on image resolution and quality. Our objective was to design cine and static cardiac imaging sequences to minimize metal artifact while maintaining image quality. Using systematic variation of standard imaging parameters on a fluid-filled phantom containing commonly used metal cardiac devices, we developed optimized sequences for steady-state free precession (SSFP), gradient recalled echo (GRE) cine imaging, and turbo spin-echo (TSE) black-blood imaging. We imaged 17 consecutive patients undergoing routine cardiac MR with 25 metal implants of various origins using both standard and optimized imaging protocols for a given slice position. We rated images for quality and metal artifact size by measuring metal artifact in two orthogonal planes within the image. All metal artifacts were reduced with optimized imaging. The average metal artifact reduction for the optimized SSFP cine was 1.5+/-1.8 mm, and for the optimized GRE cine the reduction was 4.6+/-4.5 mm (P metal artifact reduction for the optimized TSE images was 1.6+/-1.7 mm (P metal artifact are easily created by modifying basic sequence parameters, and images are superior to standard imaging sequences in both quality and artifact size. Specifically, for optimized cine imaging a GRE sequence should be used with settings that favor short echo time, i.e. flow compensation off, weak asymmetrical echo and a relatively high receiver bandwidth. For static black-blood imaging, a TSE sequence should be used with fat saturation turned off and high receiver bandwidth.

  14. Radiation exposure from diagnostic imaging in young patients with testicular cancer

    International Nuclear Information System (INIS)

    Sullivan, C.J.; Twomey, M.; O'Regan, K.N.; Murphy, K.P.; Maher, M.M.; O'Connor, O.J.; McLaughlin, P.D.; Power, D.G.

    2015-01-01

    Risks associated with high cumulative effective dose (CED) from radiation are greater when imaging is performed on younger patients. Testicular cancer affects young patients and has a good prognosis. Regular imaging is standard for follow-up. This study quantifies CED from diagnostic imaging in these patients. Radiological imaging of patients aged 18-39 years, diagnosed with testicular cancer between 2001 and 2011 in two tertiary care centres was examined. Age at diagnosis, cancer type, dose-length product (DLP), imaging type, and frequency were recorded. CED was calculated from DLP using conversion factors. Statistical analysis was performed with SPSS. In total, 120 patients with a mean age of 30.7 ± 5.2 years at diagnosis had 1,410 radiological investigations. Median (IQR) surveillance was 4.37 years (2.0-5.5). Median (IQR) CED was 125.1 mSv (81.3-177.5). Computed tomography accounted for 65.3 % of imaging studies and 98.3 % of CED. We found that 77.5 % (93/120) of patients received high CED (>75 mSv). Surveillance time was associated with high CED (OR 2.1, CI 1.5-2.8). Survivors of testicular cancer frequently receive high CED from diagnostic imaging, mainly CT. Dose management software for accurate real-time monitoring of CED and low-dose CT protocols with maintained image quality should be used by specialist centres for surveillance imaging. (orig.)

  15. Radiation exposure from diagnostic imaging in young patients with testicular cancer

    Energy Technology Data Exchange (ETDEWEB)

    Sullivan, C.J.; Twomey, M.; O' Regan, K.N. [Cork and Mercy University Hospitals, Department of Radiology, Cork (Ireland); Murphy, K.P.; Maher, M.M.; O' Connor, O.J. [Cork and Mercy University Hospitals, Department of Radiology, Cork (Ireland); University College Cork, Department of Radiology, Cork (Ireland); McLaughlin, P.D. [Cork and Mercy University Hospitals, Department of Radiology, Cork (Ireland); Vancouver General Hospital, Department of Emergency and Trauma Radiology, Vancouver, British Columbia (Canada); Power, D.G. [Cork and Mercy University Hospitals, Department of Medical Oncology, Cork (Ireland)

    2015-04-01

    Risks associated with high cumulative effective dose (CED) from radiation are greater when imaging is performed on younger patients. Testicular cancer affects young patients and has a good prognosis. Regular imaging is standard for follow-up. This study quantifies CED from diagnostic imaging in these patients. Radiological imaging of patients aged 18-39 years, diagnosed with testicular cancer between 2001 and 2011 in two tertiary care centres was examined. Age at diagnosis, cancer type, dose-length product (DLP), imaging type, and frequency were recorded. CED was calculated from DLP using conversion factors. Statistical analysis was performed with SPSS. In total, 120 patients with a mean age of 30.7 ± 5.2 years at diagnosis had 1,410 radiological investigations. Median (IQR) surveillance was 4.37 years (2.0-5.5). Median (IQR) CED was 125.1 mSv (81.3-177.5). Computed tomography accounted for 65.3 % of imaging studies and 98.3 % of CED. We found that 77.5 % (93/120) of patients received high CED (>75 mSv). Surveillance time was associated with high CED (OR 2.1, CI 1.5-2.8). Survivors of testicular cancer frequently receive high CED from diagnostic imaging, mainly CT. Dose management software for accurate real-time monitoring of CED and low-dose CT protocols with maintained image quality should be used by specialist centres for surveillance imaging. (orig.)

  16. Fast-flow lingual vascular anomalies in the young patient: is imaging diagnostic?

    International Nuclear Information System (INIS)

    Khong, Pek-Lan; Burrows, Patricia E.; Kozakewich, Harry P.; Mulliken, John B.

    2003-01-01

    To describe the imaging findings (MR imaging and angiography) of high-flow vascular anomalies of the tongue, hemangiomas and arteriovenous malformations (AVMs), with emphasis on the discrepant imaging findings in lingual AVMs. Retrospective review of clinical records, histologic reports and imaging studies of five consecutive patients with high-flow lingual vascular anomalies. One patient had hemangioma (aged 1 month) and four patients had AVMs (aged 15 months, 6, 24, and 33 years). Diagnosis was made on the basis of histology in four lesions and was based on typical clinical history in one lesion. MR imaging and angiographic findings of the hemangioma were typical, but similar findings of focal hyperintense mass on T2-weighted images and angiographic stain were seen in three AVMs (patients aged 15 months, 6 and 33 years). On angiography, there was no nidus or direct arteriovenous (AV) shunting in one AVM (patient aged 15 months). The fourth AVM had typical MR imaging and angiographic findings. The imaging findings in lingual AVMs can be atypical or inconclusive and can mimic hemangiomas, especially in the young patient. Since treatment depends on accurate diagnosis, biopsy may be necessary for lesions with inconclusive imaging findings. (orig.)

  17. Disturbed functional connectivity of cortical activation during semantic discrimination in patients with schizophrenia and subjects at genetic high-risk.

    Science.gov (United States)

    Li, Xiaobo; Branch, Craig A; Nierenberg, Jay; Delisi, Lynn E

    2010-03-01

    Schizophrenia has a strong genetic component that is relevant to the understanding of the pathophysiology of the syndrome. Thus, recent investigations have shifted from studies of diagnosed patients with schizophrenia to examining their unaffected relatives. Previous studies found that during language processing, relatives thought to be at genetic high-risk for the disorder exhibit aberrant functional activation in regions of language processing, specifically in the left inferior frontal gyrus (Broca's area). However, functional connectivity among the regions involved in language pathways is not well understood. In this study, we examined the functional connectivity between a seed located in Broca's area and the remainder of the brain during a visual lexical decision task, in 20 schizophrenia patients, 21 subjects at genetic high risk for the disorder and 21 healthy controls. Both the high-risk subjects and patients showed significantly reduced activation correlations between seed and regions related to visual language processing. Compared to the high-risk subjects, the schizophrenia patients showed even fewer regions that were correlated with the seed regions. These results suggest that there is aberrant functional connectivity within cortical language circuitry in high-risk subjects and patients with schizophrenia. Broca's area, which is one of the important regions for language processing in healthy controls, had a significantly reduced role in the high-risk subjects and patients with schizophrenia. Our findings are consistent with the existence of an underlying biological disturbance that begins in genetically at risk individuals and progresses to a greater extent in those who eventually develop schizophrenia.

  18. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia

    International Nuclear Information System (INIS)

    Jaspers, N.G.; Taalman, R.D.; Baan, C.

    1988-01-01

    Fibroblast cultures from six unrelated patients having a familial type of immunodeficiency combined with microcephaly, developmental delay, and chromosomal instability were studied with respect to their response to ionizing radiation. The cells from five of them resembled those from individuals with ataxia telangiectasia (AT) in that they were two to three times more radiosensitive on the basis of clonogenic cell survival. In addition, after exposure to either X-rays or bleomycin, they showed an inhibition of DNA replication that was less pronounced than that in normal cells and characteristic of AT fibroblasts. However, the patients are clinically very different from AT patients, not showing any signs of neurocutaneous symptoms. Genetic complementation studies in fused cells, with the radioresistant DNA synthesis used as a marker, showed that the patients' cells could complement representatives of all presently known AT complementation groups. Furthermore, they were shown to constitute a genetically heterogeneous group as well. It is concluded that these patients are similar to AT patients with respect to cytological parameters. The clinical differences between these patients and AT patients are a reflection of genetic heterogeneity. The data indicate that the patients suffer from a chromosome-instability syndrome that is distinct from AT

  19. Effects of Amerindian Genetic Ancestry on Clinical Variables and Therapy in Patients with Rheumatoid Arthritis.

    Science.gov (United States)

    Sánchez, Elena; García de la Torre, Ignacio; Sacnún, Mónica; Goñi, Mario; Berbotto, Guillermo; Paira, Sergio; Musuruana, Jorge Luis; Graf, César; Alvarellos, Alejandro; Messina, Osvaldo D; Babini, Alejandra; Strusberg, Ingrid; Marcos, Juan Carlos; Scherbarth, Hugo; Spindler, Alberto; Quinteros, Ana; Toloza, Sergio; Moreno, José Luis C; Catoggio, Luis J; Tate, Guillermo; Eimon, Alicia; Citera, Gustavo; Pellet, Antonio Catalán; Nasswetter, Gustavo; Cardiel, Mario H; Miranda, Pedro; Ballesteros, Francisco; Esquivel-Valerio, Jorge A; Maradiaga-Ceceña, Marco A; Acevedo-Vásquez, Eduardo M; García, Conrado García; Tusié-Luna, Teresa; Pons-Estel, Bernardo A; Alarcón-Riquelme, Marta E

    2017-12-01

    To define whether Amerindian genetic ancestry correlates with clinical and therapeutic variables in admixed individuals with rheumatoid arthritis (RA) from Latin America. Patients with RA (n = 1347) and healthy controls (n = 1012) from Argentina, Mexico, Chile, and Peru were included. Samples were genotyped for the Immunochip v1 using the Illumina platform. Clinical data were obtained through interviews or the clinical history. Percentage of Amerindian ancestry was comparable between cases and controls. Morning stiffness (p ancestry after Bonferroni correction. Higher Amerindian ancestry correlated only with weight loss (p Bonferroni ancestry correlated with higher doses of azathioprine (p ancestry protects against most major clinical criteria of RA, but regarding the association of RF with increased European ancestry, age, sex, and smoking are modifiers. Ancestry also correlates with the therapeutic profiles.

  20. The clinical study of cerebral blood flow imaging in patients with early syphilis

    International Nuclear Information System (INIS)

    Liu Zengli; Shi Xin; Wu Jinchang; Tang Jun; Zhong Jijun

    2003-01-01

    Objective: To study the clinical value of cerebral blood flow imaging for evaluation of patients with early syphilis. Methods: Fifty-three patients with early syphilis underwent cerebral blood flow imaging using 99 Tc m -ethylenecysteinate dimer(ECD). Regional cerebral blood flow (rCBF) changes were analyzed. Results: The acquired images of 53 patients were graded as 5 types. The rCBF was significantly depressed in 48 of 53 patients mainly in the areas dominated by anterior cerebral artery and middle cerebral artery. Conclusion: Treponema pallidum (TP) could start invading central nervous system at the early stage of infection

  1. New patient-controlled abdominal compression method in radiography: radiation dose and image quality.

    Science.gov (United States)

    Piippo-Huotari, Oili; Norrman, Eva; Anderzén-Carlsson, Agneta; Geijer, Håkan

    2018-05-01

    The radiation dose for patients can be reduced with many methods and one way is to use abdominal compression. In this study, the radiation dose and image quality for a new patient-controlled compression device were compared with conventional compression and compression in the prone position . To compare radiation dose and image quality of patient-controlled compression compared with conventional and prone compression in general radiography. An experimental design with quantitative approach. After obtaining the approval of the ethics committee, a consecutive sample of 48 patients was examined with the standard clinical urography protocol. The radiation doses were measured as dose-area product and analyzed with a paired t-test. The image quality was evaluated by visual grading analysis. Four radiologists evaluated each image individually by scoring nine criteria modified from the European quality criteria for diagnostic radiographic images. There was no significant difference in radiation dose or image quality between conventional and patient-controlled compression. Prone position resulted in both higher dose and inferior image quality. Patient-controlled compression gave similar dose levels as conventional compression and lower than prone compression. Image quality was similar with both patient-controlled and conventional compression and was judged to be better than in the prone position.

  2. Time-motion analysis of factors affecting patient throughput in an MR imaging center

    International Nuclear Information System (INIS)

    O'Donohue, J.; Enzmann, D.R.

    1986-01-01

    The high cost of MR imaging makes efficient use essential. In an effort to increase patient throughput, attention has been focused on shortening the imaging time through reductions in matrix size and number of excitations, and through the use of newer ''fast imaging'' techniques. Less attention has been given to other time-consuming aspects not directly related to imaging time. The authors undertook a time-motion study using a daily log of minute-by-minute activities associated with an MR imaging examination. The times required for the following components of the examination were measured: total study time, examination set-up time, intrastudy physician ''image review'' time, and interstudy patient turnover time. The time lost to claustrophobic reactions, patients' failure to appear for scheduled examinations, unanticipated patient care (sedation, reassurance), and equipment malfunction was also analyzed. Actual imaging time accounted for a relatively small proportion (42%) of total study time. Other factors such as intrastudy image review time (15%), interstudy patient turnover time (11%), and time lost due to claustrophobic reactions, patients' failure to appear for scheduled examinations, and equipment malfunction contributed significantly to the total study time. Simple solutions to these problems can contribute greatly to increasing patient throughput

  3. Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

    Directory of Open Access Journals (Sweden)

    Peter Vasovcak

    Full Text Available The Czech Republic has one of the highest incidences of colorectal cancer (CRC in Europe. To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH at the APC locus, microsatellite instability (MSI, and methylation of the MLH1 promoter in 103 tumours from 102 individuals. The most frequently mutated gene was APC (68.9% of tumours, followed by KRAS (31.1%, TP53 (27.2%, BRAF (8.7% and CTNNB1 (1.9%. Heterozygous germline MUTYH mutations in 2 patients were unlikely to contribute to the development of their CRCs. LOH at the APC locus was found in 34.3% of tumours, MSI in 24.3% and MLH1 methylation in 12.7%. Seven tumours (6.9% were without any changes in the genes tested. The analysis yielded several findings possibly specific for the Czech cohort. Somatic APC mutations did not cluster in the mutation cluster region (MCR. Tumours with MSI but no MLH1 methylation showed earlier onset and more severe mutational profiles compared to MSI tumours with MLH1 methylation. TP53 mutations were predominantly located outside the hot spots, and transitions were underrepresented. Our analysis supports the observation that germline MUTYH mutations are rare in Czech individuals with sporadic CRCs. Our findings suggest the influence of specific ethnic genetic factors and/or lifestyle and dietary habits typical for the Czech population on the development of these cancers.

  4. Identification method of gas-liquid two-phase flow regime based on image wavelet packet information entropy and genetic neural network

    International Nuclear Information System (INIS)

    Zhou Yunlong; Chen Fei; Sun Bin

    2008-01-01

    Based on the characteristic that wavelet packet transform image can be decomposed by different scales, a flow regime identification method based on image wavelet packet information entropy feature and genetic neural network was proposed. Gas-liquid two-phase flow images were captured by digital high speed video systems in horizontal pipe. The information entropy feature from transformation coefficients were extracted using image processing techniques and multi-resolution analysis. The genetic neural network was trained using those eigenvectors, which was reduced by the principal component analysis, as flow regime samples, and the flow regime intelligent identification was realized. The test result showed that image wavelet packet information entropy feature could excellently reflect the difference between seven typical flow regimes, and the genetic neural network with genetic algorithm and BP algorithm merits were with the characteristics of fast convergence for simulation and avoidance of local minimum. The recognition possibility of the network could reach up to about 100%, and a new and effective method was presented for on-line flow regime. (authors)

  5. Genetic Predictors of Fatigue in Prostate Cancer Patients Treated with Androgen Deprivation Therapy: Preliminary Findings

    Science.gov (United States)

    Jim, Heather S.L.; Park, Jong Y.; Permuth-Wey, Jennifer; Rincon, Maria A.; Phillips, Kristin M.; Small, Brent J.; Jacobsen, Paul B.

    2012-01-01

    Background Fatigue is a common and distressing side effect of androgen deprivation therapy (ADT) for prostate cancer. The goal of the current study was to examine the relationship between changes in fatigue following initiation of ADT and single nucleotide polymorphisms (SNPs) in three pro-inflammatory cytokine genes: interleukin-1 beta (IL1B), interleukin-6 (IL6), and tumor necrosis factor alpha (TNFA). Methods As part of a larger study, men with prostate cancer (n=53) were recruited prior to initiation of ADT. Fatigue was assessed at recruitment and six months after initiation of ADT. DNA was extracted from blood drawn at baseline. Results Patients with the IL6-174 (rs1800795) G/C or C/C genotype displayed greater increases in fatigue intrusiveness, frequency, and duration than the G/G genotype (p values≤0.05), although inclusion of age, race, and baseline depressive symptomatology in the model attenuated these relationships (p values≤0.09). Patients with the TNFA-308 (rs1800629) G/A genotype showed greater increases in fatigue severity than the G/G genotype (p=0.02). IL1B-511 (rs16944) genotype did not significantly predict changes in fatigue (p values>0.46). Patients with higher numbers of variants displayed greater increases in fatigue duration and interference (p values≤0.02) than patients with lower numbers of variants. Conclusions Prostate cancer patients treated with ADT who carry variant alleles of the IL6 and TNFA genes are susceptible to heightened fatigue. These preliminary data lend support for the role of genetic variation in the development of cancer-related fatigue secondary to ADT. Findings are relevant to attempts to develop personalized approaches to cancer treatment. PMID:22475653

  6. New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients.

    Science.gov (United States)

    Zabala, William; Cruz, Raquel; Barreiro-de Acosta, Manuel; Chaparro, María; Panes, Julián; Echarri, Ana; Esteve, Maria; Carpio, Daniel; Andreu, Montserrat; García-Planella, Esther; Domenech, Eugeni; Carracedo, Angel; Gisbert, Javier P; Barros, Francisco

    2013-04-01

    The toxicity related to thiopurine drug therapy for inflammatory bowel disease (IBD) varies widely among patients. Almost 15-30% of patients with IBD develop side effects during treatment, often bone marrow suppression. Several factors have been implicated in determining this toxicity, mainly individual genetic variation related to formation of active thiopurine metabolites. The aim was to identify genes involved in thiopurine-related myelosuppression. A two-stage investigation of 19,217 coding SNPs (cSNPs) was performed in a Spanish (Inflammatory Bowel Disease Group of Galicia [EIGA]) cohort of 173 IBD patients, 15 with bone marrow suppression. The top 20 cSNPs identified in the first stage with p ENEIDA) cohort (87 patients, 29 with bone marrow suppression). Several cSNPs showed a significant p-value in the allelic joint analysis (p-Cochran-Mantel-Haenszel test ≤2.55 × 10(-3)) despite no cSNP passing correction for multiple testing in the first cohort. Of note is rs3729961 in the gene IL6ST, a transducer signal chain shared by many cytokines including IL6 (p-value combined = 2.36 × 10(-4), odds ratio [95% CI]: 3.41 [1.71-6.78]). In addition, we detected association with rs3749598 in the FSTL5 gene that appears to interact with metalloproteases at the extracellular matrix level (p-value combined = 4.89 × 10(-4)), odds ratio (95% CI): 3.67 (1.68-8.01). We have identified IL6ST and FSLT5 as new bone marrow suppression susceptibility candidate genes after thiopurine treatment in IBD patients. This is the first report of variants associated with thiopurine-related myelosuppression that was identified by a genome-wide association study. Its validation awaits functional analyses and replication in additional studies. Original submitted 14 September 2012; Revision submitted 13 February 2013.

  7. SU-F-J-114: On-Treatment Imagereconstruction Using Transit Images of Treatment Beams Through Patient and Thosethrough Planning CT Images

    Energy Technology Data Exchange (ETDEWEB)

    Lee, H; Cho, S [KAIST, Yuseong-gu, Daejeon (Korea, Republic of); Cheong, K [Hallym University Sacred Heart Hospital, Anyang (Korea, Republic of); Jung, J [East Carolina University Greenville, NC (United States); Jung, S [Samsung Medical Cener, Gangnam-gu, Seoul (Korea, Republic of); Kim, J [Yonsei Cancer Center, Seoul (Korea, Republic of); Yeo, I [Loma Linda University Medical Center, Loma Linda, CA (United States)

    2016-06-15

    Purpose: To reconstruct patient images at the time of radiation delivery using measured transit images of treatment beams through patient and calculated transit images through planning CT images. Methods: We hypothesize that the ratio of the measured transit images to the calculated images may provide changed amounts of the patient image between times of planning CT and treatment. To test, we have devised lung phantoms with a tumor object (3-cm diameter) placed at iso-center (simulating planning CT) and off-center by 1 cm (simulating treatment). CT images of the two phantoms were acquired; the image of the off-centered phantom, unavailable clinically, represents the reference on-treatment image in the image quality of planning CT. Cine-transit images through the two phantoms were also acquired in EPID from a non-modulated 6 MV beam when the gantry was rotated 360 degrees; the image through the centered phantom simulates calculated image. While the current study is a feasibility study, in reality our computational EPID model can be applicable in providing accurate transit image from MC simulation. Changed MV HU values were reconstructed from the ratio between two EPID projection data, converted to KV HU values, and added to the planning CT, thereby reconstructing the on-treatment image of the patient limited to the irradiated region of the phantom. Results: The reconstructed image was compared with the reference image. Except for local HU differences>200 as a maximum, excellent agreement was found. The average difference across the entire image was 16.2 HU. Conclusion: We have demonstrated the feasibility of a method of reconstructing on-treatment images of a patient using EPID image and planning CT images. Further studies will include resolving the local HU differences and investigation on the dosimetry impact of the reconstructed image.

  8. SU-F-J-114: On-Treatment Imagereconstruction Using Transit Images of Treatment Beams Through Patient and Thosethrough Planning CT Images

    International Nuclear Information System (INIS)

    Lee, H; Cho, S; Cheong, K; Jung, J; Jung, S; Kim, J; Yeo, I

    2016-01-01

    Purpose: To reconstruct patient images at the time of radiation delivery using measured transit images of treatment beams through patient and calculated transit images through planning CT images. Methods: We hypothesize that the ratio of the measured transit images to the calculated images may provide changed amounts of the patient image between times of planning CT and treatment. To test, we have devised lung phantoms with a tumor object (3-cm diameter) placed at iso-center (simulating planning CT) and off-center by 1 cm (simulating treatment). CT images of the two phantoms were acquired; the image of the off-centered phantom, unavailable clinically, represents the reference on-treatment image in the image quality of planning CT. Cine-transit images through the two phantoms were also acquired in EPID from a non-modulated 6 MV beam when the gantry was rotated 360 degrees; the image through the centered phantom simulates calculated image. While the current study is a feasibility study, in reality our computational EPID model can be applicable in providing accurate transit image from MC simulation. Changed MV HU values were reconstructed from the ratio between two EPID projection data, converted to KV HU values, and added to the planning CT, thereby reconstructing the on-treatment image of the patient limited to the irradiated region of the phantom. Results: The reconstructed image was compared with the reference image. Except for local HU differences>200 as a maximum, excellent agreement was found. The average difference across the entire image was 16.2 HU. Conclusion: We have demonstrated the feasibility of a method of reconstructing on-treatment images of a patient using EPID image and planning CT images. Further studies will include resolving the local HU differences and investigation on the dosimetry impact of the reconstructed image.

  9. Automated movement correction for dynamic PET/CT images: evaluation with phantom and patient data.

    Science.gov (United States)

    Ye, Hu; Wong, Koon-Pong; Wardak, Mirwais; Dahlbom, Magnus; Kepe, Vladimir; Barrio, Jorge R; Nelson, Linda D; Small, Gary W; Huang, Sung-Cheng

    2014-01-01

    Head movement during a dynamic brain PET/CT imaging results in mismatch between CT and dynamic PET images. It can cause artifacts in CT-based attenuation corrected PET images, thus affecting both the qualitative and quantitative aspects of the dynamic PET images and the derived parametric images. In this study, we developed an automated retrospective image-based movement correction (MC) procedure. The MC method first registered the CT image to each dynamic PET frames, then re-reconstructed the PET frames with CT-based attenuation correction, and finally re-aligned all the PET frames to the same position. We evaluated the MC method's performance on the Hoffman phantom and dynamic FDDNP and FDG PET/CT images of patients with neurodegenerative disease or with poor compliance. Dynamic FDDNP PET/CT images (65 min) were obtained from 12 patients and dynamic FDG PET/CT images (60 min) were obtained from 6 patients. Logan analysis with cerebellum as the reference region was used to generate regional distribution volume ratio (DVR) for FDDNP scan before and after MC. For FDG studies, the image derived input function was used to generate parametric image of FDG uptake constant (Ki) before and after MC. Phantom study showed high accuracy of registration between PET and CT and improved PET images after MC. In patient study, head movement was observed in all subjects, especially in late PET frames with an average displacement of 6.92 mm. The z-direction translation (average maximum = 5.32 mm) and x-axis rotation (average maximum = 5.19 degrees) occurred most frequently. Image artifacts were significantly diminished after MC. There were significant differences (Pdynamic brain FDDNP and FDG PET/CT scans could improve the qualitative and quantitative aspects of images of both tracers.

  10. Imaging of Intracellular pH in Tumor Spheroids Using Genetically Encoded Sensor SypHer2.

    Science.gov (United States)

    Zagaynova, Elena V; Druzhkova, Irina N; Mishina, Natalia M; Ignatova, Nadezhda I; Dudenkova, Varvara V; Shirmanova, Marina V

    2017-01-01

    Intracellular pH (pHi) is one of the most important parameters that regulate the physiological state of cells and tissues. pHi homeostasis is crucial for normal cell functioning. Cancer cells are characterized by having a higher (neutral to slightly alkaline) pHi and lower (acidic) extracellular pH (pHe) compared to normal cells. This is referred to as a "reversed" pH gradient, and is essential in supporting their accelerated growth rate, invasion and migration, and in suppressing anti-tumor immunity, the promotion of metabolic coupling with fibroblasts and in preventing apoptosis. Moreover, abnormal pH, both pHi and pHe, contribute to drug resistance in cancers. Therefore, the development of methods for measuring pH in living tumor cells is likely to lead to better understanding of tumor biology and to open new ways for cancer treatment. Genetically encoded, fluorescent, pH-sensitive probes represent promising instruments enabling the subcellular measurement of pHi with unrivaled specificity and high accuracy. Here, we describe a protocol for pHi imaging at a microscopic level in HeLa tumor spheroids, using the genetically encoded ratiometric (dual-excitation) pHi indicator, SypHer2.

  11. Abnormalities on diffusion-weighted magnetic resonance imaging in patients with transient ischemic attack

    International Nuclear Information System (INIS)

    Nakamura, Tomomi; Shibagaki, Yasuro; Uchiyama, Shinichiro; Iwata, Makoto

    2003-01-01

    We studied abnormalities on diffusion-weighted magnetic resonance imaging (DWI) in patients with transient ischemic attack (TIA). Out of 18 consecutive TIA patients, 9 patients had relevant focal abnormalities on DWI. Among TIA patients, six patients were associated with atrial fibrillation (Af), and all of these patients had focal abnormalities on DWI as well. TIA patients with Af had significantly more frequent focal abnormalities on DWI than those without Af (p=0.009; Fisher's exact probability test). In addition, the duration of TIA symptoms was not related to the presence of focal abnormalities on DWI. These results indicate that embolic mechanism may cause focal abnormalities on DWI. DWI was more sensitive to detect responsible ischemic lesions in these patients than T2-weighted image or fluid-attenuated inversion recovery image. (author)

  12. Abnormalities on diffusion-weighted magnetic resonance imaging in patients with transient ischemic attack

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Tomomi; Shibagaki, Yasuro [Ushiku Aiwa General Hospital, Ibaraki (Japan); Uchiyama, Shinichiro; Iwata, Makoto [Tokyo Women' s Medical Coll. (Japan)

    2003-03-01

    We studied abnormalities on diffusion-weighted magnetic resonance imaging (DWI) in patients with transient ischemic attack (TIA). Out of 18 consecutive TIA patients, 9 patients had relevant focal abnormalities on DWI. Among TIA patients, six patients were associated with atrial fibrillation (Af), and all of these patients had focal abnormalities on DWI as well. TIA patients with Af had significantly more frequent focal abnormalities on DWI than those without Af (p=0.009; Fisher's exact probability test). In addition, the duration of TIA symptoms was not related to the presence of focal abnormalities on DWI. These results indicate that embolic mechanism may cause focal abnormalities on DWI. DWI was more sensitive to detect responsible ischemic lesions in these patients than T2-weighted image or fluid-attenuated inversion recovery image. (author)

  13. Complications of rotator cuff surgery—the role of post-operative imaging in patient care

    Science.gov (United States)

    Thakkar, R S; Thakkar, S C; Srikumaran, U; Fayad, L M

    2014-01-01

    When pain or disability occurs after rotator cuff surgery, post-operative imaging is frequently performed. Post-operative complications and expected post-operative imaging findings in the shoulder are presented, with a focus on MRI, MR arthrography (MRA) and CT arthrography. MR and CT techniques are available to reduce image degradation secondary to surgical distortions of native anatomy and implant-related artefacts and to define complications after rotator cuff surgery. A useful approach to image the shoulder after surgery is the standard radiography, followed by MRI/MRA for patients with low “metal presence” and CT for patients who have a higher metal presence. However, for the assessment of patients who have undergone surgery for rotator cuff injuries, imaging findings should always be correlated with the clinical presentation because post-operative imaging abnormalities do not necessarily correlate with symptoms. PMID:24734935

  14. Knowledge and attitudes towards genetic testing: a two-year follow-up in patients with asthma, diabetes mellitus and cardiovascular disease.

    NARCIS (Netherlands)

    Calsbeek, H.; Morren, M.; Bensing, J.; Rijken, M.

    2007-01-01

    Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases, (2)

  15. Knowledge and attitudes towards genetic testing: a two year follow-up study in patients with asthma, diabetes mellitus and cardiovascular disease

    NARCIS (Netherlands)

    Calsbeek, Hiske; Morren, M.; Rijken, M.; Bensing, J.

    Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases,

  16. Frequency of referral of patients with safety-related contraindications to magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Dewey, Marc [Departments of Radiology, Charite, Medical School, Humboldt-Universitaet zu Berlin (Germany)]. E-mail: marc.dewey@charite.de; Schink, Tania [Medical Biometry, Charite, Medical School, Humboldt-Universitaet zu Berlin (Germany)]. E-mail: tania.schink@charite.de; Dewey, Charles F. [Radiology, Outpatient Centre Loebau, Poststr. 20, 02738 Loebau (Germany)]. E-mail: dewey@t-online.de

    2007-07-15

    Purpose: To analyse the frequency of patients with absolute and relative contraindications to magnetic resonance (MR) imaging who were actually referred to an outpatient imaging centre for an MR examination Materials and methods: Altogether a total of 51,547 consecutive patients were included between November 1997 and December 2005. Reasons preventing MR imaging were classified into the following categories: absolute and relative contraindications. Results: The referral frequency of patients with absolute contraindications to MR imaging was 0.41% (211 of 51,547 patients; 95% CI, 0.36-0.47%). The absolute contraindications were shrapnels located in biologically sensitive areas (121 patients, 0.23%; 95% CI, 0.20-0.28%), cardiac pacemakers (42 patients, 0.08%; 95% CI, 0.06-0.11%), and other unsafe implants (48 patients, 0.09%; 95% CI, 0.07-0.12%). Also patients with a relative contraindication to MR imaging were referred such as women with a first-trimester pregnancy (13 patients, 0.03%; 95% CI, 0.01-0.04%). Conclusion: Surprisingly, a considerable number of patients (0.41%) with cardiac pacemakers, other metallic implants (not approved for MR), or shrapnels are referred to MR facilities despite the well-known recommendations not to examine such patients. Thus, absolute contraindications to MR imaging are commonly found among patients referred for MR examinations and every effort needs to be made to screen patients prior to MR imaging for such contraindications to avoid detrimental results. Also, institutions placing implants (approved and unapproved for MR) should become legally responsible for providing the required information to the patients and their physicians.

  17. Frequency of referral of patients with safety-related contraindications to magnetic resonance imaging

    International Nuclear Information System (INIS)

    Dewey, Marc; Schink, Tania; Dewey, Charles F.

    2007-01-01

    Purpose: To analyse the frequency of patients with absolute and relative contraindications to magnetic resonance (MR) imaging who were actually referred to an outpatient imaging centre for an MR examination Materials and methods: Altogether a total of 51,547 consecutive patients were included between November 1997 and December 2005. Reasons preventing MR imaging were classified into the following categories: absolute and relative contraindications. Results: The referral frequency of patients with absolute contraindications to MR imaging was 0.41% (211 of 51,547 patients; 95% CI, 0.36-0.47%). The absolute contraindications were shrapnels located in biologically sensitive areas (121 patients, 0.23%; 95% CI, 0.20-0.28%), cardiac pacemakers (42 patients, 0.08%; 95% CI, 0.06-0.11%), and other unsafe implants (48 patients, 0.09%; 95% CI, 0.07-0.12%). Also patients with a relative contraindication to MR imaging were referred such as women with a first-trimester pregnancy (13 patients, 0.03%; 95% CI, 0.01-0.04%). Conclusion: Surprisingly, a considerable number of patients (0.41%) with cardiac pacemakers, other metallic implants (not approved for MR), or shrapnels are referred to MR facilities despite the well-known recommendations not to examine such patients. Thus, absolute contraindications to MR imaging are commonly found among patients referred for MR examinations and every effort needs to be made to screen patients prior to MR imaging for such contraindications to avoid detrimental results. Also, institutions placing implants (approved and unapproved for MR) should become legally responsible for providing the required information to the patients and their physicians

  18. Body image, self-esteem, and quality of life in patients with psoriasis

    OpenAIRE

    Hulya Nazik; Selcuk Nazik; Feride C Gul

    2017-01-01

    Background: Psoriasis is a chronic inflammatory disease of the skin that may affect the visible areas of body. Hence, the quality of life, self-esteem, and body image can be affected in psoriasis patients. Objectives: We aimed in the present study to assess the effects of psoriasis on the quality of life, self-esteem, and body image. Materials and Methods: The study included 92 patients with psoriasis, along with 98 control participants. The sociodemographic characteristics of the patient...

  19. Feasibility of Stereo-Infrared Tracking to Monitor Patient Motion During Cardiac SPECT Imaging

    OpenAIRE

    Beach, Richard D.; Pretorius, P. Hendrik; Boening, Guido; Bruyant, Philippe P.; Feng, Bing; Fulton, Roger R.; Gennert, Michael A.; Nadella, Suman; King, Michael A.

    2004-01-01

    Patient motion during cardiac SPECT imaging can cause diagnostic imaging artifacts. We investigated the feasibility of monitoring patient motion using the Polaris motion-tracking system. This system uses passive infrared reflection from small spheres to provide real-time position data with vendor stated 0.35 mm accuracy and 0.2 mm repeatability. In our configuration, the Polaris system views through the SPECT gantry toward the patient's head. List-mode event data was temporally synchronized w...

  20. Laser Imaging Facilitates Early Detection of Synchronous Adenocarcinomas in Patients with Barrett’s Esophagus

    Directory of Open Access Journals (Sweden)

    Chihiro Iwashita

    2017-01-01

    Full Text Available Barrett’s adenocarcinoma may occur in multiple sites, and recurrence and metachronous lesions are the major problems with endoscopic resection. Therefore, early detection of such lesions is ideal to achieve complete resection and obtain improved survival rates with minimally invasive treatment. Laser imaging systems allow multiple modalities of endoscopic imaging by using white light laser, flexible spectral imaging color enhancement (FICE, blue laser imaging (BLI, and linked color imaging even at a distant view. However, the usefulness of these modalities has not been sufficiently reported regarding Barrett’s adenocarcinoma. Here, we report on a patient with three synchronous lesions followed by one metachronous lesion in a long segment with changes of Barrett’s esophagus, all diagnosed with this new laser endoscopic imaging system and enhanced by using FICE and/or BLI with high contrast compared with the surrounding mucosa. Laser endoscopic imaging may facilitate the detection of malignancies in patients with early Barrett’s adenocarcinoma.

  1. Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients

    KAUST Repository

    James, Tojo; Lindé n, Magdalena; Morikawa, Hiromasa; Fernandes, Sunjay Jude; Ruhrmann, Sabrina; Huss, Mikael; Brandi, Maya; Piehl, Fredrik; Jagodic, Maja; Tegner, Jesper; Khademi, Mohsen; Olsson, Tomas; Gomez-Cabrero, David; Kockum, Ingrid

    2018-01-01

    Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as Multiple Sclerosis (MS

  2. What would you say? Genetic counseling graduate students' and counselors' hypothetical responses to patient requested self-disclosure.

    Science.gov (United States)

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M

    2013-08-01

    Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.

  3. Pharmacodynamic genetic polymorphisms affect adverse drug reactions of haloperidol in patients with alcohol-use disorder

    Directory of Open Access Journals (Sweden)

    Zastrozhin MS

    2017-07-01

    Full Text Available Mikhail Sergeevich Zastrozhin,1,2 Vadim Markovich Brodyansky,3 Valentin Yurievich Skryabin,4 Elena Anatolievna Grishina,5 Dmitry Vladimirovich Ivashchenko,5 Kristina Anatolievna Ryzhikova,5 Ludmila Mikhaylovna Savchenko,1 Alexander Olegovich Kibitov,3 Evgeny Alekseevich Bryun,1,4 Dmitry Alekseevich Sychev6 1Department of Addictology, Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation, Moscow, Russia; 2Moscow Research and Practical Centre on Addictions of the Moscow Department of Healthcare, Center for the Prevention of Dependent Behavior, Moscow, Russia; 3Federal Medical Research Centre of Psychiatry and Addictology, Laboratory of Molecular Genetics, Moscow, Russia; 4Moscow Research and Practical Centre on Addictions of the Moscow Department of Healthcare, Department of Addictology, Moscow, Russia; 5Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation, Research Centre, Moscow, Russia; 6Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation, Department of Clinical Pharmacology and Therapy, Moscow, Russia Background: Antipsychotic action of haloperidol is due to blockade of D2 receptors in the mesolimbic dopamine pathway, while the adverse drug reactions are associated with striatal D2 receptor blockade. Contradictory data concerning the effects of genetic polymorphisms of genes encoding these receptors and associated structures (catechol-O-methyltransferase [COMT], glycine transporter and gene encoding the density of D2 receptors on the neuronal membrane are described.Objective: The objectives of this study were to evaluate the correlation between DRD2, SLC6A3 (DAT and COMT genetic polymorphisms and to investigate their effect on the development of adverse drug reactions in patients with alcohol-use disorder who received haloperidol.Patients and methods: The study

  4. Occupational and patient exposure as well as image quality for full spine examinations with the EOS imaging system

    International Nuclear Information System (INIS)

    Damet, J.; Fournier, P.; Monnin, P.; Sans-Merce, M.; Verdun, F. R.; Baechler, S.; Ceroni, D.; Zand, T.

    2014-01-01

    Purpose: EOS (EOS imaging S.A, Paris, France) is an x-ray imaging system that uses slot-scanning technology in order to optimize the trade-off between image quality and dose. The goal of this study was to characterize the EOS system in terms of occupational exposure, organ doses to patients as well as image quality for full spine examinations. Methods: Occupational exposure was determined by measuring the ambient dose equivalents in the radiological room during a standard full spine examination. The patient dosimetry was performed using anthropomorphic phantoms representing an adolescent and a five-year-old child. The organ doses were measured with thermoluminescent detectors and then used to calculate effective doses. Patient exposure with EOS was then compared to dose levels reported for conventional radiological systems. Image quality was assessed in terms of spatial resolution and different noise contributions to evaluate the detector's performances of the system. The spatial-frequency signal transfer efficiency of the imaging system was quantified by the detective quantum efficiency (DQE). Results: The use of a protective apron when the medical staff or parents have to stand near to the cubicle in the radiological room is recommended. The estimated effective dose to patients undergoing a full spine examination with the EOS system was 290μSv for an adult and 200 μSv for a child. MTF and NPS are nonisotropic, with higher values in the scanning direction; they are in addition energy-dependent, but scanning speed independent. The system was shown to be quantum-limited, with a maximum DQE of 13%. The relevance of the DQE for slot-scanning system has been addressed. Conclusions: As a summary, the estimated effective dose was 290μSv for an adult; the image quality remains comparable to conventional systems

  5. Occupational and patient exposure as well as image quality for full spine examinations with the EOS imaging system

    Energy Technology Data Exchange (ETDEWEB)

    Damet, J., E-mail: jerome.damet@chuv.ch; Fournier, P.; Monnin, P.; Sans-Merce, M.; Verdun, F. R.; Baechler, S. [Institute of Radiation Physics, Lausanne University Hospital, Lausanne 1007 (Switzerland); Ceroni, D. [Department of Paediatrics, Division of paediatric orthopaedic, University Hospitals of Geneva, Geneva 1205 (Switzerland); Zand, T. [Department of Radiology, Division of paediatric radiology, University Hospitals of Geneva, Geneva 1205 (Switzerland)

    2014-06-15

    Purpose: EOS (EOS imaging S.A, Paris, France) is an x-ray imaging system that uses slot-scanning technology in order to optimize the trade-off between image quality and dose. The goal of this study was to characterize the EOS system in terms of occupational exposure, organ doses to patients as well as image quality for full spine examinations. Methods: Occupational exposure was determined by measuring the ambient dose equivalents in the radiological room during a standard full spine examination. The patient dosimetry was performed using anthropomorphic phantoms representing an adolescent and a five-year-old child. The organ doses were measured with thermoluminescent detectors and then used to calculate effective doses. Patient exposure with EOS was then compared to dose levels reported for conventional radiological systems. Image quality was assessed in terms of spatial resolution and different noise contributions to evaluate the detector's performances of the system. The spatial-frequency signal transfer efficiency of the imaging system was quantified by the detective quantum efficiency (DQE). Results: The use of a protective apron when the medical staff or parents have to stand near to the cubicle in the radiological room is recommended. The estimated effective dose to patients undergoing a full spine examination with the EOS system was 290μSv for an adult and 200 μSv for a child. MTF and NPS are nonisotropic, with higher values in the scanning direction; they are in addition energy-dependent, but scanning speed independent. The system was shown to be quantum-limited, with a maximum DQE of 13%. The relevance of the DQE for slot-scanning system has been addressed. Conclusions: As a summary, the estimated effective dose was 290μSv for an adult; the image quality remains comparable to conventional systems.

  6. Clinical usefulness of cardiac cine magnetic resonance imaging in patients with atrial fibrillation

    Energy Technology Data Exchange (ETDEWEB)

    Sakakura, Kazuyoshi; Anno, Hirofumi; Kondo, Takeshi [Fujita Health Univ., Toyoake, Aichi (Japan); and others

    1993-05-01

    We studied the clinical usefulness of cine mode magnetic resonance (MR) imaging in patients with atrial fibrillation (AF) from aspects of image quality and cardiac function. The signal-to-noise (S/N) ratio in the myocardium was significantly (p<0.05) lower in patients with AF than those with normal sinus rhythm. Two radiologists who did not know any patient's information evaluated the image quality visually by marking method on a scale of 12 points. There was no difference of image quality between the two groups. The standard deviation of R-R interval was significantly (r=-0.92, p<0.001) correlated with the S/N ratio in myocardium. Consequently, it was not favorable to estimate visually cardiac cine MR image in patients with AF, when standard deviation of R-R interval was large. The left ventricular (LV) end diastolic, end systolic and stroke volumes and ejection fraction were closely (r=0.82[approx]0.95, p<0.05[approx]0.001) correlated between MR imaging and M-mode echocardiography, respectively. The ability to detect left side valvular regurgitation was almost equal in both MR imaging and color Doppler echocardiography. This result was coincided to previous papers in patients with normal sinus rhythm. In conclusion, cine mode MR imaging was also useful to analyze cardiac function and detect valvular regurgitation in patients with AF. (author).

  7. Clinical studies on myocardial perfusion imaging in patients with right ventricular overload

    International Nuclear Information System (INIS)

    Abo, Kenji; Yamagata, Takashi; Nakajima, Masao; Fujita, Kimiaki; Morita, Nobuo

    1979-01-01

    Patients with heart disease which had been clinically diagnosed underwent 201 Tl myocardial perfusion imaging. The thickness of right ventricular wall measured from original images was directly proportional to systolic pressure of the right ventricle measured by cardiac catheterization, and 201 Tl activity in the right ventricle was more directly proportional to systolic pressure of the right ventricle. Imaging patterns of various diseases were also described.