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Abnormal Plasminogen: A HEREDITARY MOLECULAR ABNORMALITY FOUND IN A PATIENT WITH RECURRENT THROMBOSIS

Aoki, Nobuo; Moroi, Masaaki; Sakata, Yoichi; Yoshida, Nobuhiko; Matsuda, Michio
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /05/1978 EN
Relevância na Pesquisa
26.7%
A patient who suffered a recurring thrombosis over the last 15 yr has been investigated. The only abnormality found in this patient was a significantly depressed level of plasminogen activity in plasma. In spite of the depressed plasminogen activity, the patient was found to have a normal level of plasminogen antigen concentration. It was calculated that the activity per milligram of plasminogen of the patient was approximately one-half the values of normal subjects. The same discrepancy between biological activity and antigen concentration was found in the other members of the kindred. A niece was found to have practically no plasminogen activity but possessed a normal concentration of plasminogen antigen. Both her parents were found to have approximately half the normal plasminogen activity and normal antigen levels. These studies suggested that the molecular abnormality was inherited as an autosomal characteristic, and the family members who had half the normal levels of activity with normal plasminogen antigen were heterozygotes whereas the one with practically no plasminogen activity was homozygote. Subsequent studies showed that the pattern of gel electrofocusing of purified plasminogen of the heterozygotes consisted of 10 normal bands and 10 additional abnormal bands...

Studies on the structural abnormality of fibrinogen Paris I.

Mosesson, M W; Amrani, D L; Ménaché, D
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/1976 EN
Relevância na Pesquisa
26.7%
The structural properties of an inherited fibrinogen abnormality designated fibrinogen Paris I were investigated. Dodecyl sulfate gel electrophoresis of unreduced samples revealed no discernible differences in molecular weight from normal; this implied that in fibrinogen Paris I, the normal fibrinogen architecture of six covalently linked chains per molecule is preserved. Examination of dithiothreitol reduced samples before and after treatment with Reptilase or thrombin revealed that the Aalpha- and Bbeta-chains could release the A and B peptides, respectively. A mutant chain (mol wt 52,500, termed gammaParis I) which replaces a large proportion of gamma-chains (mol wt 49,400) was shown, like normal gamma-chains, to lack thrombin- and Reptilase-sensitive sites. The gamma-chains and alpha-chains of Paris I fibrin underwent Factor XIIIa-catalyzed cross-linking slowly; this behavior was not attributable to an intrinsic abnormality of these chains themselves but rather to the inhibitory effect of the mutant gammaParis I chains on this process. Results of DEAE-cellulose gradient elution chromatography of Paris I fibrinogen preparations revealed the presence of small amounts of normal fibrinogen molecules and also indicated that the gammaParis I chains possessed structural overlap with gamma-chains. Unlike gamma-chains however...

Mitral valve prolapse and joint hypermobility: evidence for a systemic connective tissue abnormality?

Pitcher, D; Grahame, R
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /08/1982 EN
Relevância na Pesquisa
26.7%
Clinical evidence for an abnormally of extracardiac connective tissue was sought in 21 patients with idiopathic mitral valve prolapse and was compared to that in 21 matched controls. The incidence of rheumatic and orthopaedic complaints and the prevalence of hypermobile joints, Marfanoid habitus, and skeletal deformity were compared in the 2 groups. Skin thickness and elasticity were measured, and the mean values in the 2 groups were compared. hypermobile joints were significantly commoner in patients with mitral valve prolapse. Easy bruising was reported significantly more commonly by patients with mitral prolapse; the incidence of other rheumatic complaints was similar in the 2 groups. There was no significant difference in skin thickness, skin elasticity, and the prevalence of either skeletal deformity or Marfanoid habitus between patients with mitral valve prolapse and controls. The results support previous evidence of an association between mitral valve prolapse and benign hypermobility of the joints, but emphasise that many patients with mitral valve prolapse have no clinically apparent connective tissue abnormality outside the heart. It remains uncertain whether the valve lesion in these patients represents a tissue-specific abnormality of mitral valve collagen or the only clinical expression of a minor systemic connective tissue abnormality.

Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

Ye, Ying-hui; Xu, Chen-ming; Jin, Fan; Qian, Yu-li
Fonte: Zhejiang University Press Publicador: Zhejiang University Press
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.84%
Objective: Embryonic chromosomal abnormality is one of the main reasons for invitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

Patchiness and duodenal-jejunal variation of the mucosal abnormality in coeliac disease and dermatitis herpetiformis.

Scott, B B; Losowsky, M S
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /12/1976 EN
Relevância na Pesquisa
26.78%
The incidence and degree of patchiness of mucosal abnormality in both coeliac disease (CD) and dermatitis herpetiformis (DH) is documented. As judged by both stereomicroscopy and subjective histology, patchiness occurred frequently in both CDand DH patients. In most cases the difference of abnormality was of only one grade, but in approximately 25% as assessed by stereomicroscopy and 10% as assessed by histology the difference was of two or more grades. In control subjects with normal small bowel mucosa the variation of the mucosal appearance between the duodenum and proximal jejunum was studied. Contrary to popular belief, no significant difference of villous and crypt measurements or of apparent villous "bridging" and "branching" between these two sites was found, if only well-orientated sections were studied. The stereomicroscopic appearances were also similar at these two sites, although villi tended to be broader in the duodenal biopsies. The duodenal-jejunal variation was also studied in CD and DH patients and although by both stereomicroscopy and subjective histology the appearances were similar in most patients, in approximately 33% the duodenal abnormality was the most severe and, surprisingly, the jejunal abnormality was more severe in approximately 15%. It is concluded that multiple...

Dispersion of regional wall motion abnormality in patients with long QT syndrome

Nakayama, K; Yamanari, H; Otsuka, F; Fukushima, K; Saito, H; Fujimoto, Y; Emori, T; Matsubara, H; Uchida, S; Ohe, T
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /09/1998 EN
Relevância na Pesquisa
26.7%
Objective—To examine the left ventricular regional wall motion abnormality and to evaluate dispersion of this abnormality in patients with long QT syndrome.
Design—Left ventricular short axis images at basal and middle levels were recorded on videotape and digitised to reconstruct digitised M mode echocardiograms, from which left ventricular wall thickness curves were obtained. The wall thickening time (ThT) was defined as the period in which the instantaneous wall thickness exceeded 90% of the maximum wall thickness. ThT was measured at three segments in each of the septal and free wall sides of the left ventricle, a total of 12 segments. To examine the mechanical dispersion of the left ventricle, the difference between the maximum and minimum ThT of 12 segments in each subject was obtained.
Patients—Eight patients with congenital long QT syndrome (averaged QTc interval (SD) 509 (27) ms1/2) and 10 control subjects (QTc interval 397 (26) ms1/2) were examined.
Results—The averaged ThT values of the 12 segments pooled from all subjects were correlated with the QT intervals (r = 0.72, p < 0.005). Thus the averaged ThT in the long QT syndrome patients was longer than in the control subjects (p < 0.005). The segmental variation of ThT in the patients was greater than in the control subjects (p < 0.001). The dispersion of ThT in the patients was therefore larger than in control subjects (p < 0.005). However...

Prevalence of myocardial ischemia as depicted by regional wall motion abnormality in blacks.

Zua, M. S.; Potts, J.
Fonte: National Medical Association Publicador: National Medical Association
Tipo: Artigo de Revista Científica
Publicado em /07/1996 EN
Relevância na Pesquisa
26.89%
Coronary artery disease with subsequent myocardial ischemia is a common cause of morbidity and mortality in the United States, and data are scarce on the prevalence of the disease in blacks. Regional wall motion abnormality correlates either directly or indirectly with myocardial ischemia. This study examines the two-dimensional (2-D) echocardiography of patients > or = 45 years for men and > or = 55 years at Metropolitan Nashville General Hospital, Nashville, Tennessee. A total of 601 2-D echocardiographic studies were performed on patients who presented with symptoms and signs of cardiovascular disease. Of these, 377 (62.7%) met the age criteria and formed the study group; 92 were excluded for various reasons, leaving 285 (75%) in the analysis group. A total of 80 (28.1%) patients had regional wall motion abnormality while 205 (71.9%) did not. On analysis of the 80 patients with regional wall motion abnormality, the segment of the heart commonly affected was the septal area, although more than one segment of the myocardium was affected in all of the patients. A total of 36 (45%) patients had normal left ventricular size. In relation to race, blacks had a higher prevalence of regional wall motion abnormality compared with whites (29.2% versus 26.2%...

CD19-positive acute myeloblastic leukemia with trisomy 21 as a sole acquired karyotypic abnormality

Wang, Hua-feng; Cheng, Yi-zhi; Wang, Huan-ping; Chen, Zhi-mei; Lou, Ji-yu; Jin, Jie
Fonte: Zhejiang University Press Publicador: Zhejiang University Press
Tipo: Artigo de Revista Científica
Publicado em /11/2009 EN
Relevância na Pesquisa
26.78%
We report that a 63-year-old Chinese female had acute myeloblastic leukemia (AML) in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality. The blasts were positive for myeloperoxidase, and the immunophenotype was positive for cluster of differentiation 19 (CD19), CD33, CD34, and human leukocyte antigens (HLA)-DR. The chromosomal analysis of bone marrow showed 47,XX,+21[2]/46,XX[18]. Fluorescent in situ hybridization (FISH) showed that three copies of AML1 were situated in separate chromosomes, and that t(8;21) was negative. The patient did not have any features of Down syndrome. A diagnosis of CD19-positive AML-M5 was established with trisomy 21 as a sole acquired karyotypic abnormality. The patient did not respond well to chemotherapy and died three months after the diagnosis. This is the first reported case of CD19-positive AML with trisomy 21 as the sole cytogenetic abnormality. The possible prognostic significance of the finding in AML with +21 as the sole acquired karyotypic abnormality was discussed.

A Nanodot Array Modulates Cell Adhesion and Induces an Apoptosis-Like Abnormality in NIH-3T3 Cells

Pan, Hsu-An; Hung, Yao-Ching; Su, Chia-Wei; Tai, Shih-Ming; Chen, Chiun-Hsun; Ko, Fu-Hsiang; Steve Huang, G
Fonte: Springer Publicador: Springer
Tipo: Artigo de Revista Científica
Publicado em 19/05/2009 EN
Relevância na Pesquisa
26.78%
Micro-structures that mimic the extracellular substratum promote cell growth and differentiation, while the cellular reaction to a nanostructure is poorly defined. To evaluate the cellular response to a nanoscaled surface, NIH 3T3 cells were grown on nanodot arrays with dot diameters ranging from 10 to 200 nm. The nanodot arrays were fabricated by AAO processing on TaN-coated wafers. A thin layer of platinum, 5 nm in thickness, was sputtered onto the structure to improve biocompatibility. The cells grew normally on the 10-nm array and on flat surfaces. However, 50-nm, 100-nm, and 200-nm nanodot arrays induced apoptosis-like events. Abnormality was triggered after as few as 24 h of incubation on a 200-nm dot array. For cells grown on the 50-nm array, the abnormality started after 72 h of incubation. The number of filopodia extended from the cell bodies was lower for the abnormal cells. Immunostaining using antibodies against vinculin and actin filament was performed. Both the number of focal adhesions and the amount of cytoskeleton were decreased in cells grown on the 100-nm and 200-nm arrays. Pre-coatings of fibronectin (FN) or type I collagen promoted cellular anchorage and prevented the nanotopography-induced programed cell death. In summary...

Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma

Sivendran, Shanthi; Gruenstein, Stephen; Malone, Adriana K; Najfeld, Vesna
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em 22/07/2010 EN
Relevância na Pesquisa
26.7%
The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material[1]. Considering that ring chromosomes are rare in acute myelogenous leukemia (AML), it is difficult to risk stratify patient prognosis, particularly when the ring chromosome occurs as the sole abnormality. Here we report a case of a ring chromosome 18 abnormality in a patient with newly diagnosed AML with monocytic differentiation. Cytogenetic analysis demonstrated 46, XY, r(18)(p11q21) karyotype in 19 of 34 evaluated metaphase cells. The patient received induction chemotherapy and subsequent allogeneic cord blood transplant from a sex-matched donor, and remained in hematologic and cytogenetic remission for 120 days post transplant. Soon after, he developed post transplant lymphoproliferative disorder and died of multi-organ failure. Although r(18) chromosomal abnormalities were not classified in the recent updated evidence-and expert opinion-based recommendations for the diagnosis and management of AML (likely due to the small number of reported cases)...

Diffusion based Abnormality Markers of Pathology: Towards Learned Diagnostic Prediction of ASD

Ingalhalikar, Madhura; Parker, Drew; Bloy, Luke; Roberts, Timothy P.L.; Verma, Ragini
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.78%
This paper presents a paradigm for generating a quantifiable marker of pathology that supports diagnosis and provides a potential biomarker of neuropsychiatric disorders, such as autism spectrum disorder (ASD). This is achieved by creating high-dimensional nonlinear pattern classifiers using Support Vector Machines (SVM), that learn the underlying pattern of pathology using numerous atlas-based regional features extracted from Diffusion Tensor Imaging (DTI) data. These classifiers, in addition to providing insight into the group separation between patients and controls, are applicable on a single subject basis and have the potential to aid in diagnosis by assigning a probabilistic abnormality score to each subject that quantifies the degree of pathology and can be used in combination with other clinical scores to aid in diagnostic decision. They also produce a ranking of regions that contribute most to the group classification and separation, thereby providing a neurobiological insight into the pathology. As an illustrative application of the general framework for creating diffusion based abnormality classifiers we create classifiers for a dataset consisting of 45 children with autism spectrum disorder (ASD) (mean age 10.5 ± 2.5 yrs) as compared to 30 typically developing (TD) controls ( mean age 10.3 ± 2.5 yrs). Based on the abnormality scores...

Dental Anomalies and Facial Profile Abnormality of the Non-Syndromic Cleft Lip and Palate Children in Kelantan

Abd. Rahman, Normastura; Abdullah, Nizam; Samsudin, Abdul Rani; Naing @ Mohd Ayub Sadiq, Lin
Fonte: Penerbit Universiti Sains Malaysia Publicador: Penerbit Universiti Sains Malaysia
Tipo: Artigo de Revista Científica
Publicado em /07/2004 EN
Relevância na Pesquisa
26.84%
This study was done to determine the prevalence of dental anomalies and facial profile abnormality and its association with the non-syndromic cleft lip and palate (CLP) as compared to the non-cleft children. A comparative cross sectional study was conducted where the case group consist of 98 non-syndromic CLP children-unilateral (UCLP) and bilateral (BCLP) who attended the Combined Clinic at Kota Bharu Dental Clinic (KBDC) while the comparison group comprised of 109 non-cleft children who attended the outpatient clinic at KBDC. Their ages were between 3 to 12 years old. Clinical oral and facial profile examinations were carried out to look for dental anomalies (morphology, number and alignment of teeth) and facial profile abnormality. The prevalence of anomalies in morphology of teeth in CLP (24.5%) and non-cleft (10.1%), number of teeth in CLP (44.9%) and non-cleft (7.3%), mal-alignment in CLP (79.6%) and non-cleft (27.5%) and facial profile abnormality in CLP (26.5%) and non-cleft (9.1 %). There was a significant association between CLP and anomalies in morphology, number, mal-alignment and abnormality in facial profile; (p < 0.05). Therefore, there was a high prevalence and risk of dental anomalies and facial profile abnormality in the CLP children compared to the non-cleft children.

Proportionate Responses to Life Events Influence Clinicians’ Judgments Of Psychological Abnormality

Kim, Nancy S.; Paulus, Daniel J.; Gonzalez, Jeffrey S.; Khalife, Danielle
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.78%
Psychological abnormality is a fundamental concept in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR; APA, 2000) and in all clinical evaluations. How do practicing clinical psychologists use the context of life events to judge the abnormality of a person’s current behaviors? The appropriate role of life-event context in assessment has long been the subject of intense debate and scrutiny among clinical theorists, yet relatively little is known about clinicians’ own judgments in practice. We propose a proportionate-response hypothesis, such that judgments of abnormality are influenced by whether the behaviors are a disproportionate response to past events, rendering them difficult to understand or explain. We presented licensed, practicing clinical psychologists (N=77) with vignettes describing hypothetical people’s behaviors (disordered, mildly distressed, or unaffected) that had been preceded by either traumatic or mildly distressing events. Experts’ judgments of abnormality were strongly and systematically influenced by the degree of mismatch between the past event and current behaviors in strength and valence, such that the greater the mismatch, the more abnormal the person seemed. A separate, additional group of clinical psychologists (N=20) further confirmed that the greater the degree of mismatch...

Additional Genomic Aberrations Identified by Single Nucleotide Polymorphism Array-Based Karyotyping in an Acute Myeloid Leukemia Case with Isolated del(20q) Abnormality

Hahm, Chorong; Mun, Yeung Chul; Seong, Chu Myong; Chung, Wha Soon; Huh, Jungwon
Fonte: The Korean Society for Laboratory Medicine Publicador: The Korean Society for Laboratory Medicine
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.78%
Prognosis is known to be better in cases with isolated chromosomal abnormalities than in those with complex karyotypes. Accordingly, del(20q) as an isolated abnormality must be distinguished from cases in which it is associated with other chromosomal rearrangements for a better stratification of prognosis. We report a case of an isolated del(20q) abnormality with additional genomic aberrations identified using whole-genome single nucleotide polymorphism array (SNP-A)-based karyotyping. A 39-yr-old man was diagnosed with AML without maturation. Metaphase cytogenetic analysis (MC) revealed del(20)(q11.2) as the isolated abnormality in 100% of metaphase cells analyzed, and FISH analysis using D20S108 confirmed the 20q deletion in 99% of interphase cells. Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. SNP-A identified an additional copy neutral loss of heterozygosity (CN-LOH) in the 11q13.1-q25 region. Furthermore, SNP-A allowed for a more precise definition of the breakpoints of the 20q deletion (20q11.22-q13.31). Unexpectedly, the terminal regions showed gain on chromosome 20q. The patient did not achieve complete remission; 8 months later, he died from complications of leukemic cell infiltrations into the central nervous system. This study suggests that a presumably isolated chromosomal abnormality by MC may have additional genomic aberrations...

Fluorodeoxyglucose uptake in absence of CT abnormality on PET-CT: What is it?

Liu, Yiyan
Fonte: Baishideng Publishing Group Co., Limited Publicador: Baishideng Publishing Group Co., Limited
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.78%
The purpose of this article is to provide a pictorial review of the findings and interpretative pitfalls about focal fluorodeoxyglucose (FDG) uptake in the absence of corresponding computer tomography (CT) lesion or abnormality on an integrated positron emission tomography (PET)-CT. The integrated CT images in the PET-CT scanner allow correct co-registration and fused imaging of anatomical and functional data. On FDG PET-CT imaging, a real pathologic process often demonstrates abnormal uptake associated with a visible corresponding CT lesion or abnormality. When focal uptake is seen on PET imaging but no corresponding anatomic abnormality is visualized on the integrated CT, one should always be aware of possible mis-registration or mismatch of the PET and CT images due to the patient’s respiratory or body motion. While most of the hot spots in the absence of corresponding anatomic abnormalities are artefactual or secondary to benign etiologies, some may represent small sized or early staged neoplasm or metastases, especially in the gastrointestinal tract and skeletons. Caution should be exercised to simply diagnose a pathology based on the presence of the uptake only, or exclude the disease based on the absence of anatomic abnormality.

Detecting abnormality in optic nerve head images using a feature extraction analysis

Zhu, Haogang; Poostchi, Ali; Vernon, Stephen A; Crabb, David P
Fonte: Optical Society of America Publicador: Optical Society of America
Tipo: Artigo de Revista Científica
Publicado em 11/06/2014 EN
Relevância na Pesquisa
26.78%
Imaging and evaluation of the optic nerve head (ONH) plays an essential part in the detection and clinical management of glaucoma. The morphological characteristics of ONHs vary greatly from person to person and this variability means it is difficult to quantify them in a standardized way. We developed and evaluated a feature extraction approach using shift-invariant wavelet packet and kernel principal component analysis to quantify the shape features in ONH images acquired by scanning laser ophthalmoscopy (Heidelberg Retina Tomograph [HRT]). The methods were developed and tested on 1996 eyes from three different clinical centers. A shape abnormality score (SAS) was developed from extracted features using a Gaussian process to identify glaucomatous abnormality. SAS can be used as a diagnostic index to quantify the overall likelihood of ONH abnormality. Maps showing areas of likely abnormality within the ONH were also derived. Diagnostic performance of the technique, as estimated by ROC analysis, was significantly better than the classification tools currently used in the HRT software – the technique offers the additional advantage of working with all images and is fully automated.

Performances of diffusion kurtosis imaging and diffusion tensor imaging in detecting white matter abnormality in schizophrenia

Zhu, Jiajia; Zhuo, Chuanjun; Qin, Wen; Wang, Di; Ma, Xiaomei; Zhou, Yujing; Yu, Chunshui
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em 09/12/2014 EN
Relevância na Pesquisa
26.78%
Diffusion kurtosis imaging (DKI) is an extension of diffusion tensor imaging (DTI), exhibiting improved sensitivity and specificity in detecting developmental and pathological changes in neural tissues. However, little attention was paid to the performances of DKI and DTI in detecting white matter abnormality in schizophrenia. In this study, DKI and DTI were performed in 94 schizophrenia patients and 91 sex- and age-matched healthy controls. White matter integrity was assessed by fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), radial diffusivity (RD), mean kurtosis (MK), axial kurtosis (AK) and radial kurtosis (RK) of DKI and FA, MD, AD and RD of DTI. Group differences in these parameters were compared using tract-based spatial statistics (TBSS) (P < 0.01, corrected). The sensitivities in detecting white matter abnormality in schizophrenia were MK (34%) > AK (20%) > RK (3%) and RD (37%) > FA (24%) > MD (21%) for DKI, and RD (43%) > FA (30%) > MD (21%) for DTI. DKI-derived diffusion parameters (RD, FA and MD) were sensitive to detect abnormality in white matter regions (the corpus callosum and anterior limb of internal capsule) with coherent fiber arrangement; however, the kurtosis parameters (MK and AK) were sensitive to reveal abnormality in white matter regions (the juxtacortical white matter and corona radiata) with complex fiber arrangement. In schizophrenia...

Dobraduras e desdobramentos do engenho literário em Machado de Assis: a representação do anormal

Cardoso, Jucelén Moraes
Fonte: Universidade Federal de Uberlândia Publicador: Universidade Federal de Uberlândia
Tipo: Dissertação
POR
Relevância na Pesquisa
26.89%
Este trabalho investiga os elementos que constituem Quincas Borba, de Machado de Assis, enquanto crítica ao cientificismo do século XIX, especialmente engendrada na persona de Rubião. Por que Rubião enlouqueceu? Como se deu a inserção do discurso científico na literatura a ponto de suscitar a crítica e qual a relação dessa crítica com a construção do anormal? São questões que introduzem o problema e o localizam na esfera de relação entre discurso científico e discurso literário. Nesse sentido, focalizamos a representação da anormalidade e sua relação com um discurso científico no sentido de identificar o aspecto (engenho) por trás da fábula, ao que Foucault chamaria de ficção. Nossa hipótese é de que a representação da anormalidade sugira o atravessamento de vozes e uma dupla face do texto na medida em que justapõe o discurso científico à loucura. Isso acaba inserindo o discurso literário em uma atopia, caracterizada pela representação da representação, o que não nos impede de relacionarmos literatura e sociedade. Nesse sentido, são imprescindíveis os estudos de Michel Foucault a respeito da construção discursiva da loucura e da anormalidade, construção que explica historicamente uma prática de normalização caracterizada pela captura do louco a partir da destituição do sujeito. O contexto de emersão da sociedade burguesa nos auxilia na medida em que revela as condições de produção da obra. Procuramos demonstrar como o discurso burguês de normalização se engendra no texto literário e quais as implicações desse engenho na configuração da persona do louco em Rubião. Nesse sentido...

Fetal abnormality: an audit of its recognition and management. Northern Regional Survey Steering Group.

Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /07/1992 EN
Relevância na Pesquisa
26.89%
A voluntary survey set up by local clinicians has documented all lethal abnormality in a geographically defined area of northern England where there were 361,037 registered births between 1982 and 1990, and monitored the incidence of all significant physical abnormality since January 1984. The survey aims to maintain a register of all pregnancies where an abnormality is suspected before birth, and those where an abnormality is only identified after birth, together with a record of how the diagnosis was established. Information on management and outcome a year after birth is also collected. Nearly half the total decline in perinatal mortality in the region between 1982 and 1990 is accounted for by an increase in the antenatal recognition of lethal abnormality, isolated hydrocephalus, or a neural tube defect and subsequent termination of pregnancy. Although the reporting of many non-lethal conditions was incomplete during the pilot study in 1984, it has become progressively more complete since then. The number of cases confirmed postnatally varied little between units between 1985-9, but audit showed that the proportion recognised antenatally varied fivefold for reasons unconnected with unit size or the amount of antenatal ultrasound work done. For a number of serious conditions more than 10% of all antenatal diagnoses were completely wrong. Survey data are...

The application of chromosome abnormality chip detection in male infertility

Liu,J; Wang,WT; Liu,RM; Zhang,SX; Wang,XB; Gong,L; Sun,J; Duan,LJ; Sun,CM
Fonte: West Indian Medical Journal Publicador: West Indian Medical Journal
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/11/2013 EN
Relevância na Pesquisa
36.78%
OBJECTIVE: To discuss the application of microarray technology in the diagnosis of male infertility. METHODS: Sixteen loci, including a sex-determining region on the Y chromosome, were investigated by polymerase chain reaction (PCR) in infertile male patients. Chromosome abnormality chip with 180 000 probes was used to detect small deletion, small amplification and loss of heterozygosity. RESULTS: By PCR, nine of 103 infertile patients were found to have sequence-tagged site microdeletions. Microdeletions were not observed in control samples. The deletions detected by PCR were present in six azoospermic men (6/44, 13.6%) and in three oligoasthenoteratozoospermic (OATS) men (3/59, 5%). The overall frequency of microdeletions in infertile men was 8.7% (9/103). Chromosome abnormality chip detection 500+ detected more amplification or deletion in 51 infertile patients and the overall frequency of microdeletions in infertile men was 49.5% (51/103). CONCLUSION: Chromosome abnormality chip detection system provides a sensitive, economic and high-throughput method for detecting the deletion or amplification of genomic DNA sequences of infertile patients. Not only can it identify Yq deletions, but it can also find other chromosome abnormalities and facilitate the understanding of male infertility.