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1

Yau, Shu Ching. "Molecular diagnosis of neuromuscular disorders". Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402033.

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2

Akin, Faith W. y Jorge M. Serrador. "Diagnosis and Treatment of Vestibular Disorders in mTBI". Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/2430.

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The purpose of this session is to examine the vestibular consequences of mild traumatic brain injury (TBI) and blast exposure. Preliminary data will be presented showing characteristics of vestibular dysfunction and postural instability related to mild TBI and blast exposure. Also reviewed will be the latest findings including recent data collected at the War Related Illness & injury Center showing vestibular impairments in those with mTBI. The target audience is audiologists, physical therapists, neurologists, otolaryngologists. This session will cover intermediate level of content.
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3

Akin, Faith W. "Current Trends: Diagnosis and Treatment of Vestibular Disorders". Digital Commons @ East Tennessee State University, 2006. https://dc.etsu.edu/etsu-works/2451.

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4

Tjell, Carsten. "Diagnostic considerations on whiplash associated disorders /". Stockholm, 1998. http://diss.kib.ki.se/1998/91-628-3139-9/.

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5

Zaidi, Farhan Husain. "Novel photoreceptor cells, pupillometry and electrodiagnosis in orbital, vitreo-retinal and refractive disorders". Thesis, Imperial College London, 2008. http://hdl.handle.net/10044/1/11962.

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6

Van, Greunen Francois. "Microcomputer-assisted diagnosis of inherited disorders of the skeleton". Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/25754.

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Several hundred inherited disorders of the skeleton have been delineated. Individually these conditions are rare, but as a group they cause much crippling and hardship. Several factors, including the rarity and complexity of the manifestations of these conditions, as well as semantic overlap, impede the accurate diagnosis which is essential for effective treatment. In this regard, the adoption of microcomputers warrants evaluation as a high technology aid. Microcomputers have developed tremendous capabilities during recent years. The state of the art has become such that a diagnostic aid facility on such a device has been demonstrated in various disciplines of medicine and may also be feasible in the area of inherited skeletal disorders. The study which forms the basis of this thesis, concerns the investigation of this feasibility and has led to the development of an effective working model which sets the basis for microcomputer-aided diagnosis. The design features followed in this project are similar to those conventionally employed for "Expert systems" on mainframe computers. A comprehensive knowledge base consisting of over 200 skeletal disorders and 700 radiographic and clinical manifestations, has resulted. Furthermore, the application is capable of "learning", although inference as employed by the inference engines of real expert systems, is not employed. In this context learning implies that the knowledge base, with the passage of time, improves considerably when used by experts. Serendipitous findings in this regard are: • 1) Considerable improvement of existing profile descriptions can occur without any increased demands on computer memory and storage space; • 2) Growth of the knowledge base in the form of additional disease profiles can be effected with very modest inroads on memory and storage resources. The computerized diagnostic aid which resulted from this thesis, has been demonstrated to be successful in both the Department of Human Genetics of the University of Cape Town and the Department of Paediatrics of the Johannes Gutenberg University in Mainz. Evaluated both in terms of efficiency and utility, the system provides an enhancement to the specialist genetic diagnostician. These achievements have been effected by means of a unique newly developed application of compressed bit-mapping, attained by writing the applicable programs in Turbo Pascal and 8086- assembler languages. Calculations indicate that much larger data bases may possibly be implemented on present-day microcomputers by means of the methods developed in this project.
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7

Wittchen, Hans-Ulrich y Andrew T. Gloster. "Developments in the treatment and diagnosis of anxiety disorders". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2013. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-103821.

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Aus der Einleitung: A wide range of epidemiological community studies worldwide converge on several incontrovertible facts regarding anxiety disorders: they occur frequently, begin at an early age, significantly impair multiple areas of development and life, and are associated with numerous adverse correlates and consequences. Furthermore, evidence clearly points to the fact that the majority of patients who have anxiety disorders still go undetected and undertreated, despite considerable efforts over the last two decades to improve this situation. Less than half receive any treatment at all and only a fraction of those receive what can be considered even "minimally adequate treatment."
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8

Abbott, J. Haxby y n/a. "Accuracy in the diagnosis of lumbar segmental mobility disorders". University of Otago. Department of Anatomy & Structural Biology, 2005. http://adt.otago.ac.nz./public/adt-NZDU20070205.094640.

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Background: In the clinical examination of patients with low back pain (LBP), musculoskeletal physiotherapists routinely assess lumbar spinal segmental motion by performing physical examination procedures such as observation of active range of motion and palpation of intervertebral motion. The validity of manual assessment of segmental motion, however, has not been adequately investigated. Methods: In this pragmatic, multi-centre, criterion-related validity study, 138 consecutive patients with LBP were recruited and examined by physiotherapists with postgraduate training in musculoskeletal manual therapy. Clinicians examined each patient�s spine for the presence of segmental motion abnormalities, described as lumbar segmental rigidity (LSR) and lumbar segmental instability (LSI), then referred the patients for flexion-extension (FE) radiographs. The physical examination procedures of interest were: 1) assessment of forward-bending (FB) active range of motion (AROM); 2) FB and backward-bending (BB) passive physiological intervertebral motion testing (PPIVMs) in the sagittal plane; and 3) central postero-anterior passive accessory intervertebral motion testing (PAIVMs). Sagittal displacement kinematics of the lumbar spinal segments were measured from the FE radiographs, and served as the criterion standard against which the clinical assessment results were compared. The kinematic parameters measured were sagittal rotation, sagittal translation, ratio of translation per degree of rotation (TRR), instantaneous axis of rotation (IAR), and centre of reaction (CR). Reference ranges for normal motion were calculated from the analysis of FE radiographs of 30 asymptomatic volunteers. The accuracy and validity of the clinical examination procedures were then calculated, and reported as sensitivity, specificity, and likelihood ratios for a positive test (LR+) and a negative test (LR-). Results: In patients with LBP, sagittal rotation LSR and sagittal translation LSR had a prevalence of approximately 5.7% (p <0.0005) in this cohort. Sagittal rotation LSI was not found in statistically significant numbers. Sagittal translation LSI was found at a prevalence of 3.6% (p <0.05). Abnormal TRR (23.3%), IAR (17.7%), and CR (16.5%) were more prevalent findings (all p <0.0005). Observation of the quantity of AROM, during FB, is not valid for the assessment of either total lumbar segmental sagittal rotation, or detection of individual segments with abnormal segmental motion. PPIVMs and PAIVMs are specific, but not sensitive, for the detection of rotation LSI and translation LSI. A positive test (grade 4 on a scale from 0 to 4) with BB PPIVMs may have some utility for the diagnosis of rotation LSI or translation LSI, with LR+ of 8.4 and 7.1 respectively (and 95% CIs from around 1.7 to 38). Likelihood ratio statistics for FB PPIVMs were not statistically significant. A positive test (grade 2 on a scale from 0 to 2) with PAIVMs may have some utility for the diagnosis of rotation LSI or translation LSI, with LR+ of 2.7 and 2.5 respectively (and 95% CIs from around 1.01 to 7.5). Neither PPIVMs nor PAIVMs were useful for the detection of LSR, or abnormal quality of motion as measured by TRR, CR, and IAR. Conclusions: Abnormal spinal segmental motion is associated with the symptom of LBP, in patients presenting to physiotherapists with a new episode of recurrent or chronic LBP, however prevalence is low due to highly variable lumbar segmental motion among asymptomatic individuals. Manual physical examination has moderate validity, but limited utility on its own, for the detection of translation LSI. Further research should investigate the utility of other clinical examination findings for the detection of lumbar segmental mobility disorders.
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9

Wittchen, Hans-Ulrich y Andrew T. Gloster. "Developments in the treatment and diagnosis of anxiety disorders". Technische Universität Dresden, 2009. https://tud.qucosa.de/id/qucosa%3A26473.

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Aus der Einleitung: A wide range of epidemiological community studies worldwide converge on several incontrovertible facts regarding anxiety disorders: they occur frequently, begin at an early age, significantly impair multiple areas of development and life, and are associated with numerous adverse correlates and consequences. Furthermore, evidence clearly points to the fact that the majority of patients who have anxiety disorders still go undetected and undertreated, despite considerable efforts over the last two decades to improve this situation. Less than half receive any treatment at all and only a fraction of those receive what can be considered even "minimally adequate treatment."
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10

Hart, Stephen David. "Diagnosis of psychopathy in a forensic psychiatric population". Thesis, University of British Columbia, 1987. http://hdl.handle.net/2429/26835.

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Both researchers and clinicians, especially those working in criminal populations, have long suggested that psychopathy (or antisocial personality disorder) and schizophrenia are associated on an etiological or on some other level (e.g., Eysenck and Eysenck, 1976, 1978). Others (Hare, 1984; Hare and Harpur, 1986; Raine, 1985) argue that psychopathy is not associated (or even negatively associated) with other psychiatric disorders, including schizophrenia. To evaluate these competing positions concerning the psychopathy-schizophrenia association, 80 male prisoners remanded to a forensic psychiatric institute for assessment of their fitness to stand trial were diagnosed using both the Psychopathy Checklist (PCL; Hare, 1980, 1985a) and DSM-III Axis I and II criteria. In addition, clinical global ratings and self-report inventories were used to measure the strength of psychopathy- and schizophrenia-related traits. The results indicated that: a) although diagnoses of psychopathy (according to PCL criteria) did not have perfect specificity with respect to schizophrenia-related clinical diagnoses, the overlap was small, and the PCL scales were either not associated or negatively associated with these disorders; b) diagnoses of antisocial personality disorder (APD, according to DSM-III criteria) were generally not associated with schizophrenia-related disorders, but had lower clinical specificity than did the PCL criteria with respect to both schizophrenia-related and other psychiatric disorders; c) there was no association between psychopathy- and schizophrenia-related clinical ratings; d) psychopathy and APD diagnoses and clinical ratings were not related to scores on other standard rating scales of the severity of psychiatric symptomatology; and e) there was no difference between schizophrenic and non-schizophrenic subjects in the strength of psychopathy-related traits, and no difference between psychopaths and nonpsychopaths (or APD versus non-APD subjects) in the strength of schizophrenia-related traits. As well, self-report measures related to psychopathy and schizophrenia did not correlate with each other, or with clinical ratings of the two disorders. The results are interpreted as supporting the view that psychopathy is not positively associated with schizophrenia or with psychiatric disorder in general. The practical utility of various techniques for assessing psychopathy in forensic psychiatric populations is also discussed.
Arts, Faculty of
Political Science, Department of
Graduate
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11

Tarantello, Concetta. "The role of subjective memory complaints in predicting cognitive impairment associated with future Alzheimer’s disease: a community based study". University of Sydney, 2009. http://hdl.handle.net/2123/6190.

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In recent years there has been a substantial increase in research examining the role of subjective memory complaints (SMC) in cognitive function and Alzheimer’s disease. These studies have related SMC to many different cognitive outcomes, such as retaining normal cognitive function, a fluctuating cognitive performance and the development of Alzheimer’s disease. Most of these studies have focused on older populations and have employed a limited assessment of cognitive function. This limits the available evidence regarding the clinical utility of SMC. The literature on the role of SMC in younger subjects is scarce. It is not known whether memory complaints are useful in predicting future cases of Alzheimer’s disease in younger community-based subjects. Aims: The main aim of the present study was to determine whether SMC predict the development of cognitive impairment in a younger cohort of subjects, many of whom were under the age of 70 years (73%), based on their risk profile and neuropsychological assessment. A further aim was to ascertain whether the DRS or 7MS are sensitive screening tools for MCI and examine whether the presence of SMC affects the 3-year cognitive outcome of subjects. To address these aims, this study consisted of two parts: a cross-sectional design and a longitudinal follow-up component. Methods: This study was carried out with 86 community-dwelling subjects recruited via advertisement within the catchment area of Central Sydney Area Health Service. The mean age of the subjects was 63.1 years (SD=8.4). Subjective memory complaints were assessed using a single question. Cognitive function was assessed using a comprehensive battery of tests, selected on the basis of their sensitivity to identifying cognitive impairment typically associated with Alzheimer’s disease. After the initial analysis between those with SMC and without SMC, subjects were further classified according to their performance on an episodic memory task (i.e., delayed verbal recall, Rey, 1964) as having normal memory function, SMC or aMCI. Results: Part 1 - Subjective memory complaints (SMC) were reported by 63% of the sample. The initial analysis between subjects with SMC (n=54) and without SMC (n=32) suggested an initial relationship between SMC and cognitive functioning. Subjects with SMC had impaired global cognitive functioning on two brief screening tests (7MS and DRS), working memory, verbal recall and visuomotor speed. However, subsequent screening with the delayed verbal recall test showed that 12 of the 54 subjects with SMC demonstrated significant cognitive impairment, scoring 2 SD below the control group mean. After these subjects were removed to form the aMCI group, the cognitive differences between subjects with SMC and without SMC were no longer apparent. Subjects with aMCI showed evidence of multiple cognitive deficits (below 1 SD of control group mean) with a high percentage of subjects demonstrating impairment on tests of verbal learning, verbal recall, verbal ability and visuomotor speed. Further analysis showed a significant association between age and subjects identified as having SMC (r=-.581, p<.001) and aMCI (r=.692, p<.001). From the age of 60 onwards, both the SMC and aMCI groups demonstrated a more rapid cognitive decline with increasing age in several cognitive domains. Part 2 - After a mean interval of 3.2 years, 43 subjects were followed up. Subjects with aMCI showed evidence of greater decline on both screening tests (7MS; DRS), whilst the SMC group had significantly higher scores. This trend was also apparent with other neuropsychological testing. The analysis of change over time in cognitive function showed that the majority of subjects (both SMC aMCI) either remained stable or improved their cognitive performance. It is likely that the small sample size and short follow-up interval of the present study contributed to the present observation of no change in cognitive function over time. Discussion: The present findings suggest that subjective memory complaints are a poor predictor of cognitive function. In isolation, SMC are unlikely to be useful for identifying cases with significant cognitive impairment. This is particularly relevant for subjects under the age of 70 years. However, for subjects over the age of 70 years, SMC are likely to identify significant cases with neuropsychological assessment (such as animal fluency and delayed recall). Conclusion: The present study showed that SMC are a poor predictor of cognitive function in subjects under the age of 70 years. This study provided evidence that selected and relatively quick to administer formal neuropsychological tests of cognitive function (in particular tests of animal fluency and delayed recall) are better able to identify those at risk of developing cognitive impairment associated with Alzheimer’s disease, at an earlier age. This would thus allow exposure to earlier treatment options, such as donepezil, aricept, vitamin E, and memantine”.
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12

Schwarz, Emanuel. "Molecular diagnostic aids for neuropsychiatric disorders". Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611585.

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13

Ward, Max O. "Exploring 'dual diagnosis' treatment motivation". Thesis, Canterbury Christ Church University, 2011. http://create.canterbury.ac.uk/10459/.

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Section A reviews the clinical and risk implications of dual diagnosis along with the treatment context. The value of gathering firsthand accounts of service users to inform the planning and delivery of healthcare is touched on. The second part of the paper centres on theories of motivation and how they might be applied to help explain low rates of dual diagnosis treatment uptake and engagement. Finally, gaps in the literature are highlighted with recommendations for further research. Section B There is an emerging evidence base to support the use of integrated approaches that treat co-existing mental health and substance use disorders simultaneously. However, low rates of treatment uptake and engagement remain a concern. To address this, it would seem important to understand dual diagnosis treatment motivation and engagement, an area that has received little attention from the research community. The aim of this study was to explore service users’ and clinicians' understandings of how treatment motivation and its relationship with treatment engagement relate specifically to people with dual diagnosis. Transcripts from semi-structured interviews with four service users and four clinicians were analysed using narrative methodology. The study suggests that the factors underpinning treatment motivation and engagement among people viewed as having dual diagnosis are similar to those thought to be associated with addictions and mental health disorders generally although their relative influence and interaction effect might be different. It is suggested that negative perceptions of services, difficulties with trust, and therapeutic relationship are particularly important issues among dual diagnosis populations. Clinical and theoretical implications of the study are discussed in relation to the literature as well as recommendations for future research. Section C: Critical Appraisal. This paper provides a general overview of narrative research, including strengths and limitations as they relate to this study. With reference to the literature, clinical and theoretical implications are elaborated along with recommendations for future research. The author’s critical self-reflections regarding the process of initiating, carrying out and completing the study are highlighted. Following this, there is a section on the ethical considerations of the study. Finally, the measures taken to ensure the quality of the study and maximise internal consistency are presented.
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14

Svanborg, Pär. "State and trait measures in the affective disorders /". Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3675-7/.

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15

李穎 y W. Lee. "Subjective cognitive impairments in Schizophrenia and related disorders". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B31384948.

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16

Snyder, Emily Katherine. "A Comparison of Single Word Identification, Connected Speech Samples, and Imitated Sentence Tasks for Assessment of Children with a SSD". PDXScholar, 2010. https://pdxscholar.library.pdx.edu/open_access_etds/362.

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Speech-language pathologists are constantly trying to use the most efficient and effective assessments to obtain information about the phonetic inventory, speech sound errors, and phonological error patterns of children who are suspected of having a speech sound disorder. These assessments may involve a standardized measure of single words and/or sentences and a non standardized measure, such as a spontaneous speech sample. While research has shown both of these types of assessments to give clinicians information about a child's speech production abilities, the use of delayed imitation tasks, either words or sentences, has not been a widely studied topic and has produced conflicting results when researched. The purpose of the present study was to examine speech sound production abilities in children with a speech sound disorder in a single-word task, an imitated sentence task, and spontaneous speech sample to compare their results of speech sound errors, phonological error patterns, and time administration. The study used the Phonological and Articulatory Bilingual Assessment - English version (PABA-E, Gildersleeve-Neumann , 2008), a formal assessment for identifying children who may have a speech sound disorder. Three male children, between the ages of 4;0 and 5;4 (years;months), participated in this study. All participants were being treated by a speech-language pathologist for a diagnosed speech sound disorder and had hearing within normal limits. The results of the study showed that the majority of participants produced the highest number of speech sounds targeted within the imitated sentence task. Participants attempted and produced the least amount of speech sounds on their spontaneous speech sample. The assessment with the highest percentage of accurately produced consonants was the imitated sentence task. The majority of participants produced a higher number of error patterns in their single-word and imitated sentence task. In terms of efficiency and effectiveness, the imitated sentence task took the least amount of time to administer and transcribe.
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17

Chan, Koon-ho y 陳灌豪. "Clinical features, diagnosis and immunopathogenesis of neuromyelitis optica spectrum disorders". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48521681.

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Neuromyelitis optica (NMO) is a central nervous system inflammatory demyelinating disorders (CNS IDD) characterized by acute myelitis (AM) and optic neuritis (ON), especially clinically severe longitudinally extensive transverse myelitis (LETM) and simultaneous bilateral ON. Patients with recurrent AM especially LETM without ON, and patients with recurrent ON without AM may have disorders belonging to the spectrum of NMO, neuromyelitis optica spectrum disorders (NMOSD). NMO is likely autoimmune in nature as a significant proportion of patients are seropositive for aquaporin-4 (AQP4) autoantibodies. I studied the clinical features of local Chinese NMOSD patients and their AQP4 autoantibodies seropositivity rates of by indirect immunofluorescence using tissue slides containing primate cerebellum (tissued-based immunofluorescence assay) in patients with 1) NMO, 2) classical multiple sclerosis (CMS), 3) acute disseminated encephalomyelitis (ADEM), 4) single attack or relapsing AM, 5) single attack or relapsing ON, and 6) other neurological disorders. The results showed that NMOSD are severe CNS IDD affecting patients with a wide range of onset ages. Chinese NMOSD patients predominantly have relapsing NMO and relapsing LETM with severe attack of LETM and/or ON. The six-year mortality rate of patients with NMO or relapsing myelitis with LETM was about 12%. Two-thirds of patients have poor neurological outcome at a mean duration of 6.0 years. The results confirmed that AQP4 autoantibodies are specific for NMOSD, and detection of AQP4 autoantibodies is clinically useful for early diagnosis of NMOSD and distinction from CMS. I proceeded to study a cell-based immunofluorescence assay using transfected human embryonic kidney cells overexpressing human AQP4 on cell membrane and found that cell-based assay has higher sensitivity than tissue-based assay in detection of AQP4 autoantibodies in NMO (78% versus 61%). As our NMOSD patients frequently presented clinically with severe brainstem symptoms and signs and lesions in brainstem and other brain regions on magnetic resonance imaging (MRI), I studied the clinical and neuroradiological characteristics of Chinese NMOSD patients with brain involvement. I found that 59% of NMOSD patients have clinical and/or radiological evidence of brain involvement. Importantly, brainstem is the most frequently affected brain region and 24% of NMOSD patients had clinical manifestation of brainstem encephalitis. I also studied the pathogenicity of AQP4 autoantibodies in the absence of complement activation by passive transfer of IgG isolated from sera of NMOSD patients into mice pretreated with complete Freund’s adjuvant (CFA, containing heat-killed mycobacterium tuberculosis) and pertussis toxin (PTx). I observed that pretreatment with CFA and PTx led to breach of BBB in mouse, and IgG isolated from sera of NMOSD patients seropositive for AQP4 autoantibodies led to asymptomatic loss of AQP4 in gray and white matter in mouse spinal cord without inflammatory cell infiltration, demyelination or astrocytic loss in the absence of complement activation (human IgG cannot activate mouse complements). My findings support that 1) AQP4 autoantibodies binding to astrocytic AQP4 per se can cause downregulation of AQP4 in the absence of complement activation, and 2) complement activation with resultant complement activation products play key roles in the inflammation, demyelination and astrocyte cytotoxicity in NMO.
published_or_final_version
Medicine
Doctoral
Doctor of Philosophy
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18

Wilson, Beverley Clare. "Some spatial models for the diagnosis of neurogenic muscle disorders". Thesis, University of Liverpool, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.237526.

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19

Currin, Laura Gene. "Primary care treatment of eating disorders : from diagnosis to referral". Thesis, King's College London (University of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435015.

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20

Ali, Sarah Alfarabi. "Novel biomarkers in the diagnosis and pathogenesis of immunobullous disorders". Thesis, King's College London (University of London), 2016. http://kclpure.kcl.ac.uk/portal/en/theses/novel-biomarkers-in-the-diagnosis-and-pathogenesis-of-immunobullous-disorders(475622b2-523f-4855-92ab-fe7d3303c1b2).html.

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Mucous membrane pemphigoid (MMP) and pemphigus vulgaris (PV) are uncommon mucocutaneous immunobullous disorders associated with significant morbidity. The aims were to: 1) Investigate the potential of saliva for diagnosis and disease-monitoring 2) Utilize serum and salivary biomarkers in the analysis of disease severity and therapeutic responses 3) Correlate phenotypic subgroups with target antigens to potentially explain the spectrum of clinical presentation and disease severity in MMP. Methodology: Matched serum and whole saliva samples were taken from a total of 100 MMP patients, 26 PV patients, 50 healthy controls (HC) and 16 Lichen planus (LP) patients. All LP and PV patients, 40 MMP and 6 HC provided parotid saliva. Reactivity with the NC16a epitope on bullous pemphigoid antigen 2 (BP180), the alpha 6 beta 4 integrin (α6β4) and desmoglein 3 (Dsg3) was determined by Enzyme-linked immunosorbent assays (ELISA). Disease severity was assessed using the Guy’s Oral Disease Severity Score. Results: In MMP, IgG and/or IgA antibody to BP180-NC16a (44%) in whole saliva showed a similar sensitivity to serum (48%). In parotid saliva IgA to BP180-NC16a was positive in 45% and was also secretory component positive (r =0.9141). A change in serum antibodies (IgG and IgA) to BP180-NC16a was significantly related to a change in severity scores (p =0.048 and 0.033, respectively). A positive association was found between 1) the presence of serum IgG to BP180-NC16a and the presence of lesions in multisite disease (p =0.003) and 2) the presence of IgA to BP180-NC16a in whole saliva and the presence of oral and ocular lesions (p =0.016). IgG antibody to α6β4 integrin was positive in 36% of serum and 18% of saliva. Regarding PV, anti-Dsg3 IgG antibody was positive in serum (74%) and whole saliva (61%) with a positive correlation (r =0.9044). Serum IgA anti-Dsg3 antibody was positive in 61% (with a combined IgG positivity of 78% in PV patients). A significant relationship between anti-Dsg3 IgG antibody in whole saliva and therapeutic responses was found (p =0.004). Conclusions: The results show 1) the value of salivary anti-Dsg3 IgG antibodies in monitoring PV patients and confirm the sensitivity and specificity of IgG anti-Dsg3 serum and saliva antibodies in PV diagnosis. The high positivity of serum IgA anti-Dsg3 antibodies requires further elucidation in disease pathogenesis. The salivary biomarkers, IgG and IgA antibodies to BP180-NC16a and α6β4 may be useful in the diagnosis of MMP. 2) IgG and IgA antibodies to BP180-NC16a in serum can be used for disease monitoring and therapeutic responses in MMP. 3) Clinical phenotypes did not appear to be explained by epitope or isotype specificity. However, the novel finding of locally produced antibodies to BP180-NC16a may provide further insight into the pathogenesis of the oral disease. These new findings demonstrate the value of saliva in the diagnosis and monitoring of MMP and for furthering the understanding of disease pathogenesis.
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21

Yip, Poon-chi Benedict. "Uses of short tandem repeats in the diagnosis of genetic diseases /". Hong Kong : University of Hong Kong, 1997. http://sunzi.lib.hku.hk/hkuto/record.jsp?B18865458.

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22

葉本志 y Poon-chi Benedict Yip. "Uses of short tandem repeats in the diagnosis of genetic diseases". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1997. http://hub.hku.hk/bib/B31214848.

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23

Clarnette, Roger M. "Predictors of cognitive decline in those with subjective memory complaint". University of Western Australia. School of Psychiatry and Clinical Neurosciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0245.

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[Truncated abstract] Background: Dementia, largely due to Alzheimer's disease (AD), is a major public health problem. The early identification of disease is an important challenge for clinicians because treatment of AD is now available. A simple and accurate means of stratifying risk for AD and identifying early disease is needed so that risk factor modification and treatment can occur optimally. To date, despite many attempts, an accurate means of standardising an approach to the assessment of subtle cognitive symptoms has not been developed. A subjective complaint of poor memory has been identified as a possible marker for underlying brain disease. This study examines the utility of neuropsychological scores, homocysteine levels, APOE genotyping and brain imaging as predictors of cognitive decline in individuals with subjective memory complaint (SMC). Method Eighty subjects with SMC were recruited from memory clinics and the community (MC: 1). Forty-two control subjects were also examined (MC: 0). CAMDEX was used to describe baseline clinical features. The CAMCOG was used as a global test of cognition and was administered annually for four years. At baseline, neuropsychological testing was administered. Cranial CT scanning, measurement of plasma homocysteine and APOE genotyping were completed. Categorical variables were analysed using chi-square according to Pearson's method. Continuous data was analysed using Student's t-tests and Mann-Whitney tests. A logistic regression model was used to identify independent contributors to the presence of memory complaint. Participants were then matched for age, gender and time to follow-up (up for three years) to determine longitudinal predictors of cognitive decline. ... Baseline CAMCOG scores were greater in the control group (MC:0 = 98.3 ? 2.8, MC:1 94.2 ? 5.5, Z ?4.46, p 0.000). There were no differences in neuropsychological scores, concentration of total plasma homocysteine, APOE genotype or brain scan measurements. Using the Wald stepwise selection method, logistic regression could not be established due to non-convergence regardless of whether or not the continuous variables were re-coded into dichotomous variables. A matching process that created 32 pairs of controls/subjects allowed follow-up analysis. The controls showed significant improvement with time on the CAMCOG unlike subjects (mean ? SD, controls 1.5 ?-3.0, Z - 2.61, p 0.01, subjects 0.2 ? 3.2, Z ? 0.24, p 0.81). The logistic regression analysis showed that group membership could not be defined by any single independent variable. When group membership was abandoned and those with stable scores were compared to those who declined no clear meaningful independent predictors of decline apart from age were identified. Conclusions: Methodological issues such as small sample size and inadequate follow up duration were identified that may have precluded identification of predictive factors for cognitive decline. The results indicate that complaints of memory problems are not associated with established risk factors for Alzheimer's disease and fail to predict objective cognitive decline over three years. Future studies should continue trying to identify robust predictors of cognitive decline in later life.
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24

Brogan, Clare A. "The diagnosis of children with autistic spectrum disorders : implications for parents". Thesis, Glasgow Caledonian University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313177.

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25

McCormack, Michael James. "Development of prenatal diagnosis of metabolic disorders using chorionic villus sampling". Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317449.

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26

Barlow, Peter A. "A non-invasive technique for the diagnosis of temporomandibular joint disorders". Thesis, University of Sussex, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296542.

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27

Perryman, Twyla Yatai Watson Linda R. "Investigating disparities in the age of diagnosis of autism spectrum disorders". Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2009. http://dc.lib.unc.edu/u?/etd,2469.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2009.
Title from electronic title page (viewed Sep. 3, 2009). "... in partial fulfillment of the requirement for the degree of doctorate in philosophy in the Division of Speech and Hearing Sciences in the Department of Allied Health Sciences of the School of Medicine." Discipline: Allied Health Sciences; Speech and Hearing Sciences; Department/School: Medicine.
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28

Sayed, Rabya Hussain. "Advances in the diagnosis and treatment of amyloidosis and related disorders". Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10041023/.

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BACKGROUND: Amyloidosis is a disorder arising from the variable physiological effects of dysregulated, extracellular protein deposition. There are >30 different subtypes, all possessing the same histological characteristics and the two major organs affected are the kidneys and the heart. AIMS AND HYPOTHESIS: To evaluate current UK histological practices leading to a misdiagnosis of amyloidosis; To establish proteomics as a new diagnostic technique for identifying amyloid, in the UK; To investigate the usefulness of a relatively new biomarker i.e. Retinol Binding Protein (RBP), across amyloid subtypes and correlate values with biopsy findings, which has not previously been done; To identify the cause of death in patients with Stage III/ IV cardiac amyloidosis using, for the first time, Implantable Loop Recorders; To present the first comprehensive review of Light Chain Deposition Disease highlighting the relationship between haematological response and overall prognosis. RESULTS: In 65% of cases where renal amyloidosis was misdiagnosed as minimal change disease, Congo red staining was not undertaken and in 35% of cases neither Congo red staining, with cross-polarised light visualisation, nor electron microscopy was undertaken. Proteomics has now been established as a specific and sensitive technique by which to diagnose amyloid and the subtype, demonstrated by distinguishing Fibrinogen Aα-Chain (AFib) renal biopsies from other subtypes. Urinary RBP/Creatinine (RCR) correlated with the: degree of tubular atrophy, number of light chains, eGFR, presence of glycosuria and degree of tubular phosphate reabsorption. RCR values were especially high in AFib and AA amyloidosis. Pulseless Electrical Activity was identified as the terminal rhythm in patients with Stage III/IV cardiac amyloidosis and this was preceded by a high degree AV block. Deep clonal responses to chemotherapy are associated with improved renal and overall outcomes in LCDD and should be pursued even in advanced chronic kidney disease.
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29

Tietjen, Joan Marie. "Loneliness in adults with schizophrenia, affective disorders or without clinical diagnosis". The Ohio State University, 1992. http://rave.ohiolink.edu/etdc/view?acc_num=osu1346957443.

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30

Leung, Kin-sang y 梁建生. "A rapid molecular testing system for differential diagnosis of myeloproliferative neoplasms". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48334145.

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Myeloproliferative neoplasms include a heterogeneous group of stem cell disorders with overproduction of myeloid cells. They have very different clinical courses and prognosis and are amenable to specific targeted therapy. A prompt and accurate diagnosis is therefore very important. Genetic characterisation plays an important role in diagnosis and classification of these disorders. BCR-ABL1fusion gene and JAK2V617F mutation are the particular major molecular markers to be detected because of availability of targeted therapy. In this study, a new molecular testing system was developed for the differential diagnosis of myeloproliferative neoplasms. A multiplex reverse-transcriptase polymerase chain reaction was developed for fast detection of JAK2 V617F mutation and BCR-ABL1fusion simultaneously. It was demonstrated to be fast and highly sensitive and specific for the mutations as validated by analysis of clinical samples. The sensitivity limit was well suited for clinical diagnosis. There was great potential saving in consumables and manpower with a much shortened turn-around-time in most cases when compared to conventional diagnostic protocol.
published_or_final_version
Pathology
Master
Master of Medical Sciences
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31

Gonzalez, Brian David. "Prevalence, Predictors, and Correlates of Patient Concealment of a Lung Cancer Diagnosis". Scholar Commons, 2013. http://scholarcommons.usf.edu/etd/4679.

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Most cases of lung cancer have a commonly-understood behavioral etiology. Thus, individuals with lung cancer are often blamed for their illness by others and may therefore seek to avoid this blame by concealing their diagnosis from others. This study sought to determine the prevalence of diagnosis concealment, examine potential predictors of concealment, and test parts of a cognitive-affective-behavioral model of the effects of concealing a concealable stigma among individuals receiving treatment for lung cancer. With regard to predictors of concealment, it was hypothesized that concealment would be positively associated with male gender, introversion, and trait social anxiety and would be negatively associated with social support and the use of seeking guidance and support as a coping strategy. Hypothesized correlates of concealment included poorer self-esteem as well as greater anxiety, cancer-specific distress, and social avoidance. A sample of 117 participants receiving chemotherapy or radiation for stage I-IV non-small cell lung cancer and limited to extensive stage small cell lung cancer was recruited during routine outpatient visits. A medical chart review was conducted to assess clinical factors and participants completed a standard demographic questionnaire as well as measures of coping strategies, introversion, trait social anxiety, social avoidance, social support, anxiety, depression, cancer-specific distress, self-esteem, perceived stigma, public self-consciousness, and private self-consciousness. Results indicated that 31% of participants concealed their diagnosis from others since their diagnosis and 26% concealed their diagnosis in the month preceding their participation in the study. Hypotheses regarding predictors and correlates of concealment were not supported. However, exploratory analyses identified use of alcohol, recency of a recurrence of lung cancer, use of positive reappraisal as a coping strategy, and social support as predictors of concealment as well as internalized shame as a correlate of concealment. These findings serve to extend existing literature on concealing a concealable stigma and support parts of an existing model on the effects of concealment. Future research should aim to test the impacts of concealment in the context of certain social situations to examine longitudinal relationships between predictors and consequences of concealment.
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32

Gatten, Shauna L. "Clinical differentiation of mental disorders in the eldery : validation of the CAMDEX". Virtual Press, 1993. http://liblink.bsu.edu/uhtbin/catkey/862267.

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The present series of investigations examined the diagnostic accuracy of the Cognitive Examination (CAMCOG) from the Cambridge Mental Disorders of the Elderly Examination (CAMDEX) in the differential diagnosis of various dementing conditions. Specifically, this study examined: (a) the degree to which the CAMCOG would differentiate normal individuals from patients with Alzheimer's Disease (AD) and from those suffering from non-AD dementing conditions, (b) the extent to which the CAMCOG would distinguish between patients suffering from organic dementing conditions, those having functional psychiatric disorders, and normal persons, and (c) whether the CAMCOG would offer an improvement in diagnostic accuracy over a widely used screening instrument (i.e., the Mini-Mental Status Examination, MMSE) when attempting to differentially diagnose dementing patients and normal cohorts.A review of the literature was presented with an emphasis on the difficulties in establishing differential diagnosis, inaccuracies in diagnosis, the importance of improved diagnostic accuracy, and the use of neuropsychological measures in the assessment and diagnosis of patients suffering from dementing illnesses. Further, research relevant to ancillary diagnostic techniques, the various neuropsychologicalapproaches used in evaluating and diagnosing mental disorders in the elderly, and studies investigating the utility of specific cognitive/neuropsychological measures in the differential diagnosis of dementing diseases was presented.The results of these investigations revealed that the CAMCOG provides excellent diagnostic sensitivity and specificity when differentiating normal persons from clinically diagnosed AD patients and when distinguishing between individuals with an organic-dementing condition and normal adults. The CAMCOG was found to be less effective in differentiating AD and non-AD dementia patients and in distinguishing between patients suffering from organic dementia versus specified psychiatric disorders. Finally, the CAMCOG demonstrated a slight improvement in diagnostic accuracy over the Mini-Mental Status Examination. These results were discussed in terms of their support for the utility of the CAMCOG as an excellent screening measure when used to differentiate patients suffering from various dementia-producing disease states and normal persons.
Department of Educational Psychology
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33

Reycraft, Jacqueline J. "A Collective Case Study of the Diagnosis of Dissociative Disorders in Children". Scholar Commons, 2013. http://scholarcommons.usf.edu/etd/4754.

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There is a paucity of research on the diagnosis of dissociative disorders in children. Most children are misdiagnosed with more common mental disorders with similar symptoms. Earlier recognition of dissociative disorders can save years of pain, suffering, and cost. This qualitative collective case study examined the process of diagnosing dissociation in two children under the ages of 12 at the beginning of treatment. A concurrent focus on the training and development of the therapist/researcher is included. Archival data including progress notes, psychotherapy notes, assessments, correspondence, legal documents, school records, and medical records were analyzed using within-case and cross-case analyses to identify individual and common themes that may expedite the diagnosis of dissociative disorders in children. The narrative presentation of a qualitative study with its thick, rich description may increase the understanding of clinicians with little or no experience and help them to differentiate these disorders from other disorders with overlapping symptoms. Factors that impeded and advanced the recognition of dissociative disorders were identified. Clinical findings underscore the role of knowledge and training, experience, and consultation in the diagnosis of dissociative disorders.
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34

Piyamongkol, Wirawit. "Molecular genetic diagnosis of single gene disorders at the single cell level". Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.395649.

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35

Rooke, Sally M. "Childhood anxiety disorders : exploring targeted preventative interventions and spontaneous recovery from diagnosis". Thesis, University of Southampton, 2017. https://eprints.soton.ac.uk/415380/.

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The first section of this thesis submission consists of a systematic literature review of randomised controlled trials evaluating intervention programmes aimed at preventing the onset of Anxiety Disorders in ‘at risk’ young people. A total of 16 studies (2545 young people) met inclusion criteria. Intervention characteristics were varied, although most often based on cognitive behavioural therapy. The range of risk factors used for inclusion in selective interventions was wide ranging. Evidence for effectiveness was mixed. Studies included in this review revealed a trend for a reduction of anxiety symptoms post intervention, but inconsistent findings regarding the significance of this decrease in comparison with control groups. The need for future research is discussed. The second part contains an empirical research paper investigating potential predictive factors of spontaneous recovery from childhood anxiety disorders. Sixty-three children, aged 7-12 years old, with a current anxiety disorder took part in the study. The main findings were that children’s spontaneous recovery from childhood anxiety disorders was higher among children with a single anxiety disorder than for children with comorbid anxiety disorders, and for those with parents who displayed lower levels of passivity, threat promotion, or vulnerability promotion. Clinical implications and suggestions for future research are discussed.
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36

Pinto, Joana Isabel Monteiro. "Metabonomics of the blood of pregnant women for diagnosis of prenatal disorders". Master's thesis, Universidade de Aveiro, 2010. http://hdl.handle.net/10773/3156.

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Mestrado em Métodos biomoléculares
A aplicação da metabonómica na pesquisa de novos biomarcadores de doenças tem ganho um interesse crescente na investigação e desenvolvimento, tanto ao nível do processamento analítico como do tratamento de dados. Nomeadamente, a análise metabonómica usando espectroscopia de Ressonância Magnética Nuclear (NMR) fornece uma grande quantidade de dados de uma forma rápida e não invasiva sobre a composição de amostras complexas como o plasma sanguíneo. Uma vez que as doenças pré-natais têm um elevado impacto no metabolismo materno e fetal, sendo responsáveis por várias complicações durante e depois da gravidez, esta estratégia foi aplicada ao estudo destas doenças através da análise de sangue de senhoras grávidas (colhido entre 15-24 semanas de gestação), com o objectivo de investigar possíveis metabolitos marcadores ou com poder de previsão para a diabetes gestacional e malformações fetais. Num primeiro passo, foram estudados os perfis metabólicos em RMN dos controlos (n=20) e gravidezes com diagnóstico ou suspeita de malformações fetais (n=11) e pré-diabetes gestacional (com posterior diagnóstico clínico entre 22-34 semanas de gestação). A análise multivariada (análise de componentes principais, PCA; análise discriminante pelo método de mínimos quadrados parcias, (PLS-DA) e duas versões deste último, interval PLS-DA e ortogonal PLS-DA (OPLS-DA)) foram aplicados com o objectivo de pesquisar por correlações de solidez estatística entre a composição do plasma e a ocorrência das doenças em estudo. Os resultados mostraram que as amostras controlo e doença podem ser diferenciadas com base no seu perfil metabólico, nomeadamente mostrando níveis mais elevados de compostos que contêm colina em mulheres que desenvolveram diabetes gestacional mais tarde na gravidez. Adicionalmente, níveis mais elevados de piruvato, manose e compostos que contêm colina, e níveis mais baixos de vários aminoácidos e acetato foram encontrados nas gravidezes afectadas por malformações fetais. Numa segunda etapa do trabalho, as mesmas amostras foram analisadas por espectroscopia de Infravermelho com Transformadas de Fourier (FTIR), um método mais barato e acessível para eventual uso clínico. O perfil dos espectros de FTIR também revelou algumas diferenças entre controlos e doenças, no entanto a sua interpretação específica torna-se difícil devido à grande sobreposição de bandas característica de espectros de infravermelho. Estes resultados mostraram que a análise metabonómica de plasma de mulheres grávidas por RMN e FTIR pode ser uma ferramenta poderosa para obter informação bioquímica sobre a saúde pré-natal e encontrar possíveis novos marcadores com potencial para prever doenças, particularmente no caso do diabetes gestacional. ABSTRACT: The use of Metabonomics to search for new disease biomarkers has gained increasing interest in the research community and continuous developments, both at the analytical and data processing levels have boosted this area into new quests in biomarker research. Namely, Nuclear Magnetic Resonance (NMR)-metabonomics provides a large amount of compositional data on complex samples such as blood plasma, in a rapid and non-invasive manner. Since prenatal diseases have a high impact on both maternal and fetal metabolisms, being responsible for a range of complications both during and after pregnancy, this strategy was hereby applied to the study of prenatal diseases, through the analysis of blood (collected at 15-24 gestational weeks), in order to probe for possible marker/predictor metabolites for gestational diabetes and fetal malformations. In the first stage of this work, the plasma metabolic profiles of controls (n=20) and pregnancies affected by diagnosed or suspected fetal malformations (n=11) and pre-gestational diabetes (with posterior clinical diagnosis at 22-34 gestational weeks) were evaluated by NMR spectroscopy. Multivariate analysis (principal component analysis, PCA; partial least squares discriminant analysis, PLS-DA and two extended versions of the latter, interval PLS-DA (iPLS-DA) and orthogonal PLS-DA (OPLS-DA) were applied in order to search for consistent statistical correlations between plasma composition and the occurrence of the diseases. It was found that controls and diseased subjects could be differentiated with basis on their plasma profile, namely showing higher levels of choline-containing compounds in pregestational diabetic women. In addition, higher contents of pyruvate, mannose and choline-containing compounds and lower contents of several amino acids and acetate were found in pregnancies affected by fetal malformations. In a second stage of the work, the same samples were analysed by Fourier Transform Infrared (FTIR) spectroscopy, a cheaper and more-accessible method, more suited to straightforward clinical use. The FTIR spectral profiles also revealed some differences between controls and diseased subjects, the interpretation of which posing a harder challenge than that of NMR. These results have shown that NMR and FTIR metabonomics of pregnant women blood plasma may be a powerful tool to gain insight into prenatal diseases and find possible new markers with potential predictive value, particularly in the case of gestational diabetes.
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37

Thorpe, Susan Jane. "Cognitive processes in specific phobias and their treatment". Thesis, University of Oxford, 1994. http://ora.ox.ac.uk/objects/uuid:e6697f28-16f3-4771-af14-4aa47aaaf4d3.

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38

Tallman, Karen Shepard. "Lateral ventricle size, smooth pursuit eye tracking and neuropsychological test performance in chronic schizophrenia". Thesis, University of British Columbia, 1986. http://hdl.handle.net/2429/30286.

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The relationships between lateral ventricle size, smooth pursuit eye tracking, and neuropsychological test performance were investigated using a sample of 30 chronic schizophrenic inpatients. There were no significant correlations between any of the measures. Compared to a control group of normal volunteers, the schizophrenic patients showed abnormally poor eye tracking accuracy but did not show lateral ventricular enlargement. Compared to a group of age matched non-schizophrenic psychiatric patients, the schizophrenic patients were impaired on six out of ten neuropsychological tests. As there was no evidence of lateral ventricle enlargement, it is clear that eye tracking impairment and deficits on neuropsychological tests may occur independently of enlarged lateral ventricles. The absence of relationships between impairments on the neuropsychological tests and poor eye tracking is not thought to be the result of restricted performance ranges for any of the measures. The most parsimonious conclusion is that there is no relationship between eye tracking and the variety of neuropsychological functions assessed in this study. However, an alternative possibility is that the study sample was too homogeneously impaired, and a relationship between eye tracking impairment and neuropsychological deficits might emerge in a more diverse sample representative of the range of individuals currently diagnosed as schizophrenic.
Arts, Faculty of
Psychology, Department of
Graduate
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39

Ward, S. E. G. "An investigation into the early detection and diagnosis of congenital auditory imperception". Thesis, Birmingham City University, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.234145.

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40

Wiggins, Lisa D. "Subtypes of Toddlers with Autism Spectrum Disorders: Implications for Early and Future Diagnosis". Digital Archive @ GSU, 2009. http://digitalarchive.gsu.edu/psych_diss/53.

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Autism spectrum disorders (ASDs) are a group of disorders that affect social, communication, and behavioral development. Identification of clinically distinct subtypes of ASDs, especially in the developmental period when delays or deficits are first recognized (i.e., in the first few years of life), can lend clues to etiology and trajectory and enhance current knowledge on early manifestations of the disorders. Moreover, identification of clinically distinct subtypes of ASDs may inform early identification efforts. Past research suggests that social relations, verbal abilities, nonverbal abilities, and the presence of certain stereotyped interests and behaviors (SIB) may be important factors in delineating subtypes of ASDs in toddlers. Yet there is no published study that examines empirically derived subtypes in a sample of such young children. Therefore, the purpose of this study was to determine whether clinically distinct subtypes can be derived from a sample of toddlers who fail an autism screen and are subsequently diagnosed with developmental concerns, including an ASD. Results found that subtypes delineated by social-communicative maturity were found in both of the aforementioned samples of children. Furthermore, the ASD only sample was also distinguished by rate and intensity of certain types of SIB. Implications for autism theory, early identification, and early intervention are discussed.
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41

Hedwig, Travis H. "THE CULTURAL POLITICS OF FETAL ALCOHOL SPECTRUM DISORDERS AND THE DIAGNOSIS OF DIFFERENCE". UKnowledge, 2013. http://uknowledge.uky.edu/anthro_etds/7.

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This dissertation is based on an ethnographic study of Fetal Alcohol Spectrum Disorders (FASD) and the racial, cultural and political considerations that shape the meaning of diagnosis for Alaska Native individuals and families in Anchorage, Alaska. During the period from August 6, 2010 to through August 5, 2011, I worked with foster families and extended natural families living with and supporting individuals diagnosed with FASD. Documenting the experiences of families in their interactions with clinical, state, tribal and non-profit institutions, I sought to understand how a diagnosis of FASD structures opportunities, outcomes and everyday life experiences across several critical life domains, including health, education, employment, kinship and identity. Family narratives and experiences are highlighted to illustrate the ways in which difference is reproduced in everyday public understanding and clinical practice.
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42

Knöfler, Ralf y Werner Streif. "Strategies in Clinical and Laboratory Diagnosis of Inherited Platelet Function Disorders in Children". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-136597.

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Inherited disorders of platelet function are a rare and heterogeneous group of diseases usually characterised by a mild to moderate bleeding tendency. Typical bleeding symptoms are easy bruising, epistaxis, menorrhagia as well as mucocutaneous and perioperative bleeding. The performance of platelet function diagnostics in children is hampered by age-dependent restriction of blood sample size, poor venous access, and the lack of reproducible test reference ranges for children of different age groups. Platelet function testing is limited to specialised centres, because platelet function test procedures are complicated and time-consuming, which most likely results in a relevant number of undiagnosed and incorrectly classified children with clinically relevant platelet function defects. Evaluation of bleeding history and bleeding symptoms is essential for a rational step-bystep approach to diagnosis. Platelet function diagnostics should be preceded by the exclusion of thrombocytopenia, von Willebrand disease, and secondary haemostasis defects. Light transmission aggregometry is still considered the standard for the assessment of platelet function. Every effort should be made to classify the specific platelet function defect in the patient, because this is essential for accurate treatment and counselling
Angeborene Thrombozytenfunktionsstörungen stellen eine seltene und heterogene Gruppe von Erkrankungen dar, welche meist durch eine leichte bis mittelschwere Blutungsneigung auffallen. Typische Blutungssymptome sind Hämatomneigung, Epistaxis, Menorrhagien sowie Schleimhaut- und perioperative Blutungen. Die Durchführung der Thrombozytenfunktionsdiagnostik bei Kindern wird erschwert durch die altersabhängig begrenzte Blutprobenmenge, schwierige Venenverhältnisse und das Fehlen von Referenzbereichen für Kinder unterschiedlichen Alters. Aufgrund der meist komplizierten und zeitaufwendigen Tests ist die Thrombozytendiagnostik auf spezialisierte Zentren begrenzt. Mit hoher Wahrscheinlichkeit wird eine relevante Anzahl von Kindern mit nichtdiagnostizierten bzw. unkorrekt klassifizierten, klinisch relevanten Thrombozytopathien übersehen. Die Erhebung der Blutungsanamnese und die Bewertung der Blutungssymptome sind erforderlich für eine stufenweise erfolgreiche Gerinnungsdiagnostik. Vor Durchführung einer Thrombozytenfunktionsdiagnostik sollten das Vorliegen einer Thrombozytopenie, einer von-Willebrand-Erkrankung und sekundärer Gerinnungsstörungen ausgeschlossen werden. Die Lichttransmissionsaggregometrie gilt noch immer als Standardmethode für die Beurteilung der Thrombozytenfunktion. Nach Möglichkeit sollte stets versucht werden, den vorliegenden spezifischen Thrombozytenfunktionsdefekt zu klassifizieren, da dies für eine adäquate Behandlung und eine gezielte genetische Beratung notwendig ist
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich
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43

Kozub, Mary L. "The diagnosis of autism spectrum disorders in the US trends and family experiences /". [Bloomington, Ind.] : Indiana University, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3319917.

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Thesis (Ph.D.)--Indiana University, Dept. of Anthropology, 2008.
Title from PDF t.p. (viewed on May 11, 2009). Source: Dissertation Abstracts International, Volume: 69-08, Section: A, page: 3192. Adviser: Sarah D. Phillips.
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44

Wiggins, Lisa Daniell. "Subtypes of toddlers with autism spectrum disorders implications for early and future diagnosis /". unrestricted, 2009. http://etd.gsu.edu/theses/available/etd-04152009-202950/.

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Thesis (Ph. D.)--Georgia State University, 2009.
Title from file title page. Diana L. Robins, committee chair; Lauren B. Adamson, Roger Bakeman, Chris Henrich, committee members. Description based on contents viewed June 18, 2009. Includes bibliographical references (p. 115-126).
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45

Knöfler, Ralf y Werner Streif. "Strategies in Clinical and Laboratory Diagnosis of Inherited Platelet Function Disorders in Children". Karger, 2010. https://tud.qucosa.de/id/qucosa%3A27716.

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Inherited disorders of platelet function are a rare and heterogeneous group of diseases usually characterised by a mild to moderate bleeding tendency. Typical bleeding symptoms are easy bruising, epistaxis, menorrhagia as well as mucocutaneous and perioperative bleeding. The performance of platelet function diagnostics in children is hampered by age-dependent restriction of blood sample size, poor venous access, and the lack of reproducible test reference ranges for children of different age groups. Platelet function testing is limited to specialised centres, because platelet function test procedures are complicated and time-consuming, which most likely results in a relevant number of undiagnosed and incorrectly classified children with clinically relevant platelet function defects. Evaluation of bleeding history and bleeding symptoms is essential for a rational step-bystep approach to diagnosis. Platelet function diagnostics should be preceded by the exclusion of thrombocytopenia, von Willebrand disease, and secondary haemostasis defects. Light transmission aggregometry is still considered the standard for the assessment of platelet function. Every effort should be made to classify the specific platelet function defect in the patient, because this is essential for accurate treatment and counselling.
Angeborene Thrombozytenfunktionsstörungen stellen eine seltene und heterogene Gruppe von Erkrankungen dar, welche meist durch eine leichte bis mittelschwere Blutungsneigung auffallen. Typische Blutungssymptome sind Hämatomneigung, Epistaxis, Menorrhagien sowie Schleimhaut- und perioperative Blutungen. Die Durchführung der Thrombozytenfunktionsdiagnostik bei Kindern wird erschwert durch die altersabhängig begrenzte Blutprobenmenge, schwierige Venenverhältnisse und das Fehlen von Referenzbereichen für Kinder unterschiedlichen Alters. Aufgrund der meist komplizierten und zeitaufwendigen Tests ist die Thrombozytendiagnostik auf spezialisierte Zentren begrenzt. Mit hoher Wahrscheinlichkeit wird eine relevante Anzahl von Kindern mit nichtdiagnostizierten bzw. unkorrekt klassifizierten, klinisch relevanten Thrombozytopathien übersehen. Die Erhebung der Blutungsanamnese und die Bewertung der Blutungssymptome sind erforderlich für eine stufenweise erfolgreiche Gerinnungsdiagnostik. Vor Durchführung einer Thrombozytenfunktionsdiagnostik sollten das Vorliegen einer Thrombozytopenie, einer von-Willebrand-Erkrankung und sekundärer Gerinnungsstörungen ausgeschlossen werden. Die Lichttransmissionsaggregometrie gilt noch immer als Standardmethode für die Beurteilung der Thrombozytenfunktion. Nach Möglichkeit sollte stets versucht werden, den vorliegenden spezifischen Thrombozytenfunktionsdefekt zu klassifizieren, da dies für eine adäquate Behandlung und eine gezielte genetische Beratung notwendig ist.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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46

Diajil, Ameena Ryhan. "An investigation into the diagnosis, prediction and management of oral potentially malignant disorders". Thesis, University of Newcastle upon Tyne, 2012. http://hdl.handle.net/10443/1601.

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Oral cancer may be proceeded by dysplastic PMDs mainly presenting as leukoplakia or erythroplakia and which can carry an increased risk of malignant transformation. Therefore, early recognition of PMDs with a high potential for cancer development is important to improve patient outcome. 100 patients with dysplastic PMDs presenting in Newcastle underwent a standardised interventional management protocol based on risk factor assessment, laser excision of dysplastic lesions and long-term clinical follow-up at regular intervals. This patient cohort was studied in detail to examine the clinicopathological features that may influence disease progression. Single dysplastic PMDs were mainly observed in the floor of mouth, with 92% presenting as leukoplakia and 8% as erythroplakia. Follow-up revealed that 62% of patients remained disease-free following laser surgery, 17% showed recurrent-disease, 14% new-site dysplasia, with 5% malignant transformation and 2% developed OSCC at a site distant from the primary dysplasia. Clinical appearance, high grade dysplasia, larger sized PMDs, high risk sites and positive excision margins were shown to increase the risk of unfavourable clinical outcome. Malignant transformation was mainly seen in non-smokers and non-alcohol users, whilst new-site OSCC was only seen in non-smokers and light drinkers. The use of Raman spectroscopy in the detection and classification of dysplasia within the human oral tissue was investigated. Currently, histopathology is considered the diagnostic gold standard. Consensus opinion on dysplasia grading of individual PMD lesions using two classification systems (WHO and binary grading) was obtained and a spectral diagnostic model then correlated with the results. The ability of Raman spectroscopy to differentiate between dysplasia and morphologically normal tissue was shown, with an 81% sensitivity and specificity. This supports the suitability of the Raman system in clinical use to distinguish morphologically normal from dysplastic tissue. This work has also shown the efficacy of Raman spectroscopy in identifying early biochemical changes in epithelial dysplastic tissue before morphological/histological change becomes apparent.
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47

Powell, Theresa E. "Ambulatory EEG monitoring in the diagnosis and treatment of epilepsy and related disorders". Thesis, Aston University, 1986. http://publications.aston.ac.uk/14588/.

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Ambulatory EEG recording enables patients with epilepsy and related disorders to be monitored in an unrestricted environment for prolonged periods. Attacks can therefore be recorded and EEG changes at the time can aid diagnosis. The relevant Iiterature is reviewed and a study made of' 250 clinical investigations. A study was also made of the artefacts,encountered during ambulatory recording. Three quarters of referrals were for distinguishing between epileptic and non-epileptic attacks. Over 60% of patients showed no abnormality during attacks. In comparison with the basic EEG the ambulatory EEG provided about ten times as much information. A preliminary follow-up study showed that results, of ambulatory monitoring agreed with the final diagnosis in 8 of 12 patients studied. Of 10 patients referred, for monitoring the occurrence of absence seizures, 8 showed abnormality during the baslcJ EEG .and 10 during the ambulatory EEG. Other patients. were referred: for sleep recording and to clarify the seizure type. An investigation into once daily (OD) versus twice daily administration of sodium valproate in patients with absence seizures showed that an OD regime was equally as effective as a BD regime. Circadian variations in spike and wave activity in patients on and off treatment were also examined. There was significant agreement between subjects on the time of occurrence of abnormality during sleep only, This pattern was not ,affected with treatment nor was there any difference in the daily pattern of occurrence of abnormality between the two regimes. Overall findings suggested that ambulatory monitoring was a valuable tool in the diagnosis and treatment of epilepsy which with careful planning and patient selection could be used in any EEG department and would benefit a:wide range of patients.
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48

Thalme, Anders. "Infectious endocarditis, aspects on pathogenesis, diagnosis and prognosis /". Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-361-2/.

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49

Alexander, Beverly. "A comparison of the time taken to administer and analyze phonologic and phonetic tests". PDXScholar, 1989. https://pdxscholar.library.pdx.edu/open_access_etds/3854.

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The purpose of this study was to determine if the time it takes to complete a phonological test was significantly different than the time it takes to complete a phonetic test. It was hoped this study would identify an instrument that the public school speech-language pathologist could use more effectively and efficiently to analyze phonologically-impaired children.
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50

Sarasalo, Elina. "Kleptomania and shoplifting : a psychosocial study /". Stockholm, 1997. http://diss.kib.ki.se/1997/19971219sara.

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