Die vorliegende medizinische Dissertation beschäftigt sich mit der Evaluation nicht-invasiver Diagnostikverfahren zur Detektion einer Leberfibrose bei Patienten mit Morbus Wilson. Untersucht wurden die Transiente Elastographie (TE), die Acoustic Radiation Force Impulse (ARFI)-Elastographie sowie verschiedene laborbasierte Fibrose-Indices bezüglich der Anwendbarkeit und ihres diagnostischen Nutzens. Der Morbus Wilson ist eine seltene hereditäre Kupferspeicherkrankheit, die über Kupferakkumulation im Leberparenchym zur Ausbildung einer Zirrhose führen kann. Die Kenntnis des Leberfibrosegrades ist unabdingbar für therapeutische Entscheidungen und prognostische Einschätzungen. Dafür sind regelmäßige Kontrollen der Leber im Krankheitsverlauf notwendig, wobei die Leberbiopsie den diagnostischen Goldstandard darstellt. Die Invasivität sowie das Komplikationspotential limitieren jedoch deren wiederholte Anwendbarkeit. TE sowie ARFI bieten hierzu eine moderne Alternative, deren Nutzen anhand großer Studien bei Patienten mit verschiedenen chronischen Lebererkrankungen bereits aufgezeigt werden konnte. Die Verfahren beurteilen die Parenchymsteifigkeit als Surrogatparameter der Leberfibrose, wobei mit steigendem Fibrosegrad die Gewebesteifigkeit zunimmt. Die Grenzwerte zur Definition des Fibrosegrades sowie die Anwendbarkeit beider Verfahren variieren in Abhängigkeit von der Grunderkrankung. Ziel dieser Studie war es, Grenzwerte und diagnostischen Nutzen der Elastographieverfahren bei M. Wilson zu definieren. Beide Verfahren können eine Leberbeteiligung des M. Wilson nachweisen und das Vorliegen einer Leberzirrhose detektieren. Die potentiell bessere diagnostische Treffsicherheit der TE wird durch Einschränkungen in der Anwendbarkeit limitiert.

Diss. (sammanfattning) Uppsala : Uppsala universitet, 2007. / Härtill 5 uppsatser.

Introdução: A doença de Wilson (DW) é uma doença genética rara, sistêmica, causada por déficit no metabolismo do cobre, levando a acúmulo em diversos órgãos, incluindo o cérebro, especialmente os núcleos da base. Apesar de distonia e disartria serem as alterações neurológicas mais comuns, alterações cognitivas, incluindo demência, podem surgir em casos não tratados. Objetivos: Avaliar as funções cognitivas de um grupo de pacientes com DW e correlacionar com os achados de RM e SPECT. Métodos: Todos os pacientes com DW atendidos consecutivamente em uma clínica de distúrbios do movimento, entre outubro de 2006 e agosto de 2007, foram submetidos ao Miniexame do Estado Mental (MEEM), Bateria Cognitiva Breve (BCB), teste de fluência verbal (animais, FAS e verbos), Bateria de Avaliação Frontal (BAF), STROOP, Extensão de Dígitos (ED) ordem direta e ordem inversa, Escala de Demência de Mattis (DRS), Teste de Seleção de Cartas de Wisconsin (WCST), Hooper e Blocos do WAIS. Depois dos testes, todos os pacientes realizaram RM e SPECT. Alterações de RM (hipersinal, hiposinal e atrofia) foram quantificadas em uma escala (0-17). O SPECT foi analisado por meio de SPM. Pacientes com depressão ou com anartria foram excluídos. Os resultados foram comparados com o desempenho de um grupo de voluntários sadios. Resultados: 20 pacientes com DW (11 homens) e 20 controles (9 homens) foram avaliados. A média de idade no grupo de pacientes com DW e controles foi 30,05±7,25 anos e 32,15±5,37 anos, respectivamente. A escolaridade média foi 11,15±3,73 anos nos pacientes com DW e 10,08 ± 2,62 anos nos controles. Pacientes com DW tiveram comprometimento cognitivo nos seguintes testes: MEEM (26,70±2,45 x 28,75±1,29), DRS (132,45 ±10,77 x 140,55±3,72), Fluência verbal: FAS (22,40±12,40 x 38,75±9,11) e Verbos (8,50±6,63 x 15,40±6,22); ED ordem direta (4,95±0,82 x 6,15±1,42), STROOP (4,40±4,87 x 0,50±0,68), BAF (12,95±2,85 x 16,25±1,25) e BCB: M2 (9,20±0,69 x 9,75±0,44), M5 (8,45±1,35 x 9,50 ±0,76). O diagnóstico de demência foi realizado em dois pacientes. Houve correlação entre o comprometimento cognitivo e a escala de RM (r=0,5348). Essa correlação foi mais forte com as alterações de hipersinal e atrofia (r=0,718). A avaliação por SPM mostrou uma hipoperfusão no caudado de forma simétrica, no cerebelo à esquerda e insula à esquerda. Conclusões: Pacientes com DW apresentam um comprometimento cognitivo, especialmente nas funções executivas, com boa correlação entre cognição e RM / Background: Wilsons disease (WD) is a rare, genetic and systemic disease, caused by a deficit in the copper metabolism, leading to its accumulation in different organs, including the brain, especially the basal ganglia. Although dystonia and dysarthria are the most common neurological signals, cognitive changes, including dementia, may emerge in untreated cases. Objective: To assess cognitive functioning of a group of WD patients and correlate with MRI and SPECT findings. Methods: All WD patients consecutively attended in a Movement Disorders Clinic between October 2006 and August 2007 were submitted to the Mini-Mental State Examination (MMSE), Brief Cognitive Screening Battery (BCSB), verbal fluency tests (animals, FAS and verbs), the Frontal Assessment Battery (FAB), STROOP, Digit Span forward and backward (DS), Dementia Ranting Scale (DRS), Wisconsin Card Sorting Test (WCST), Hooper and WAIS block design. After the tests, a MRI and SPECT were done in all patients. MRI abnormalities (high intensity signal, low intensity signal and atrophy) were ratted in a scale (0-17). SPECT was analyzed with SPM. Patients with depression or with anarthria were excluded. Results were compared with the performance of a group of healthy controls. Results: 20 WD patients (11 men) and 20 controls (9 men) were evaluated. Mean age in the WD and control groups were 30.05±7.25 years and 32.15±5.37, respectively. Mean educational level was 11.15±3.73 years among WD cases and 10.08 ± 2.62 years among controls. The WD patients had a cognitive impairment in the: MMSE (26.70±2.45 x 28.75±1.29), DRS (132.45 ±10.77 x 140.55±3.72), verbal fluency: FAS (22.40±12.40 x 38.75±9.11), Verbs (8.50±6.63 x 15.40±6.22); DS forward (4.95±0.82 x 6.15±1.42), STROOP (4.40±4.87 x 0.50±0.68), FAB (12.95±2.85 x 16.25±1.25) and BCSB: M2 (9.20±0.69 x 9.75±0.44), M5 (8.45±1.35 x 9.50 ±0.76). Dementia diagnostic was made in tow patients. There was a correlation between cognitive impairment and MRI scale (r=0.5348), this correlation was better with high intensity signal plus atrophy (r=0.718). The SPM showed a symmetrical caudate, left cerebellar and left insular hypoperfusion. Conclusion: WD patients presented cognitive impairment, especially in executive functions, with good correlation between cognition and MRI

Introdução: A doença de Wilson (DW) é uma doença genética rara, sistêmica, causada por déficit no metabolismo do cobre, levando a acúmulo em diversos órgãos, incluindo o cérebro, especialmente os núcleos da base. Apesar de distonia e disartria serem as alterações neurológicas mais comuns, alterações cognitivas, incluindo demência, podem surgir em casos não tratados. Objetivos: Avaliar as funções cognitivas de um grupo de pacientes com DW e correlacionar com os achados de RM e SPECT. Métodos: Todos os pacientes com DW atendidos consecutivamente em uma clínica de distúrbios do movimento, entre outubro de 2006 e agosto de 2007, foram submetidos ao Miniexame do Estado Mental (MEEM), Bateria Cognitiva Breve (BCB), teste de fluência verbal (animais, FAS e verbos), Bateria de Avaliação Frontal (BAF), STROOP, Extensão de Dígitos (ED) ordem direta e ordem inversa, Escala de Demência de Mattis (DRS), Teste de Seleção de Cartas de Wisconsin (WCST), Hooper e Blocos do WAIS. Depois dos testes, todos os pacientes realizaram RM e SPECT. Alterações de RM (hipersinal, hiposinal e atrofia) foram quantificadas em uma escala (0-17). O SPECT foi analisado por meio de SPM. Pacientes com depressão ou com anartria foram excluídos. Os resultados foram comparados com o desempenho de um grupo de voluntários sadios. Resultados: 20 pacientes com DW (11 homens) e 20 controles (9 homens) foram avaliados. A média de idade no grupo de pacientes com DW e controles foi 30,05±7,25 anos e 32,15±5,37 anos, respectivamente. A escolaridade média foi 11,15±3,73 anos nos pacientes com DW e 10,08 ± 2,62 anos nos controles. Pacientes com DW tiveram comprometimento cognitivo nos seguintes testes: MEEM (26,70±2,45 x 28,75±1,29), DRS (132,45 ±10,77 x 140,55±3,72), Fluência verbal: FAS (22,40±12,40 x 38,75±9,11) e Verbos (8,50±6,63 x 15,40±6,22); ED ordem direta (4,95±0,82 x 6,15±1,42), STROOP (4,40±4,87 x 0,50±0,68), BAF (12,95±2,85 x 16,25±1,25) e BCB: M2 (9,20±0,69 x 9,75±0,44), M5 (8,45±1,35 x 9,50 ±0,76). O diagnóstico de demência foi realizado em dois pacientes. Houve correlação entre o comprometimento cognitivo e a escala de RM (r=0,5348). Essa correlação foi mais forte com as alterações de hipersinal e atrofia (r=0,718). A avaliação por SPM mostrou uma hipoperfusão no caudado de forma simétrica, no cerebelo à esquerda e insula à esquerda. Conclusões: Pacientes com DW apresentam um comprometimento cognitivo, especialmente nas funções executivas, com boa correlação entre cognição e RM / Background: Wilsons disease (WD) is a rare, genetic and systemic disease, caused by a deficit in the copper metabolism, leading to its accumulation in different organs, including the brain, especially the basal ganglia. Although dystonia and dysarthria are the most common neurological signals, cognitive changes, including dementia, may emerge in untreated cases. Objective: To assess cognitive functioning of a group of WD patients and correlate with MRI and SPECT findings. Methods: All WD patients consecutively attended in a Movement Disorders Clinic between October 2006 and August 2007 were submitted to the Mini-Mental State Examination (MMSE), Brief Cognitive Screening Battery (BCSB), verbal fluency tests (animals, FAS and verbs), the Frontal Assessment Battery (FAB), STROOP, Digit Span forward and backward (DS), Dementia Ranting Scale (DRS), Wisconsin Card Sorting Test (WCST), Hooper and WAIS block design. After the tests, a MRI and SPECT were done in all patients. MRI abnormalities (high intensity signal, low intensity signal and atrophy) were ratted in a scale (0-17). SPECT was analyzed with SPM. Patients with depression or with anarthria were excluded. Results were compared with the performance of a group of healthy controls. Results: 20 WD patients (11 men) and 20 controls (9 men) were evaluated. Mean age in the WD and control groups were 30.05±7.25 years and 32.15±5.37, respectively. Mean educational level was 11.15±3.73 years among WD cases and 10.08 ± 2.62 years among controls. The WD patients had a cognitive impairment in the: MMSE (26.70±2.45 x 28.75±1.29), DRS (132.45 ±10.77 x 140.55±3.72), verbal fluency: FAS (22.40±12.40 x 38.75±9.11), Verbs (8.50±6.63 x 15.40±6.22); DS forward (4.95±0.82 x 6.15±1.42), STROOP (4.40±4.87 x 0.50±0.68), FAB (12.95±2.85 x 16.25±1.25) and BCSB: M2 (9.20±0.69 x 9.75±0.44), M5 (8.45±1.35 x 9.50 ±0.76). Dementia diagnostic was made in tow patients. There was a correlation between cognitive impairment and MRI scale (r=0.5348), this correlation was better with high intensity signal plus atrophy (r=0.718). The SPM showed a symmetrical caudate, left cerebellar and left insular hypoperfusion. Conclusion: WD patients presented cognitive impairment, especially in executive functions, with good correlation between cognition and MRI

Die vorliegende medizinische Dissertation beschäftigt sich mit der Evaluation nicht-invasiver Diagnostikverfahren zur Detektion einer Leberfibrose bei Patienten mit Morbus Wilson. Untersucht wurden die Transiente Elastographie (TE), die Acoustic Radiation Force Impulse (ARFI)-Elastographie sowie verschiedene laborbasierte Fibrose-Indices bezüglich der Anwendbarkeit und ihres diagnostischen Nutzens. Der Morbus Wilson ist eine seltene hereditäre Kupferspeicherkrankheit, die über Kupferakkumulation im Leberparenchym zur Ausbildung einer Zirrhose führen kann. Die Kenntnis des Leberfibrosegrades ist unabdingbar für therapeutische Entscheidungen und prognostische Einschätzungen. Dafür sind regelmäßige Kontrollen der Leber im Krankheitsverlauf notwendig, wobei die Leberbiopsie den diagnostischen Goldstandard darstellt. Die Invasivität sowie das Komplikationspotential limitieren jedoch deren wiederholte Anwendbarkeit. TE sowie ARFI bieten hierzu eine moderne Alternative, deren Nutzen anhand großer Studien bei Patienten mit verschiedenen chronischen Lebererkrankungen bereits aufgezeigt werden konnte. Die Verfahren beurteilen die Parenchymsteifigkeit als Surrogatparameter der Leberfibrose, wobei mit steigendem Fibrosegrad die Gewebesteifigkeit zunimmt. Die Grenzwerte zur Definition des Fibrosegrades sowie die Anwendbarkeit beider Verfahren variieren in Abhängigkeit von der Grunderkrankung. Ziel dieser Studie war es, Grenzwerte und diagnostischen Nutzen der Elastographieverfahren bei M. Wilson zu definieren. Beide Verfahren können eine Leberbeteiligung des M. Wilson nachweisen und das Vorliegen einer Leberzirrhose detektieren. Die potentiell bessere diagnostische Treffsicherheit der TE wird durch Einschränkungen in der Anwendbarkeit limitiert.

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The entire world needs and seeks information to survive and thrive in the 21st century as a result of information acquisition, with doctors, lawyers, teachers, students and even the elderly all desiring information for their everyday activities. Researchers of different disciplines working at the various federal institutes in Nigeria are no exceptions to the craving for requisite information that will enable them successfully carry out their numerous research projects undertaken towards achieving sustainable national development. The aim of the study was to investigate the information needs and information-seeking behaviour of researchers at the Federal Institute of Industrial Research Oshodi, Nigeria. This study applied both quantitative and qualitative research approaches for the purpose of triangulation. The quantitative approach had a strong dominance over the qualitative approach in this study. This study adopted the positivist paradigm. The questionnaire, interview and observation data collection tools were the chosen tools used to collect data from researchers from the six departments of the Federal Institute of Industrial Research Oshodi and five professional librarians of the institute’s library. Out of 165 questionnaires that were administered to researchers, a total of 121 were returned (resulting in a response rate of 73%). Inaccuracies were identified in seven copies of the questionnaires which were discarded and not analysed. Therefore, usable returns totalled 114 (67%). Wilson’s 1999 model of information behaviour was used as the theoretical framework. This study revealed that both formal and informal sources were consulted by the researchers. It was important to note that the internet was the information source most commonly used by the researchers to obtain information. The institute’s library was poorly used because it contained outdated library materials and was not equipped with an internet facility. The researchers opted for the use of mobile phone/iPad, personally owned or sourced internet access and business centres (supplying internet services outside the institute) to access information sources for information. The study ascertained that there was undoubtedly an instituted library officially established within the institute to provide information to researchers. But due to socio-economic and political problems faced by the country Nigeria, predominantly with respect to the outlook of poor funding of sustainable library development concerns and the government’s lack of interest in research, outdated library collections and poor information provision services have become the given at the institute’s library. This ultimately brought about pessimistic reactions from the researchers. Among its recommendations, the study suggested that funding the institute’s library in order to update and replace outdated library collections is a priority. An information audit should be carried out to ascertain the current state of ICTs within the institute and the institute’s library should be equipped with an internet facility promptly. Adopting these recommendations would enable researchers to have limitless access to items of information they need for research as they seek for information. / Information Science / D. Phil. (Information Science)