58 research outputs found
A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
No full textWilson's disease (WD) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the ATPase copper transporting beta (ATP7B) gene, which lead to abnormal copper deposition in different body tissues. An estimated 50% of patients report neurological or psychiatric manifestations.1No Full Tex
Public Sector Accounting
No full textThis book has been written to provide readers with a discussion of different
aspects of financial and management accounting in the public sector. The
book provides relevant information and guidance needed for accountability
and decision making in this context, and explains how financial management
tools are implemented and used in the public sector. By inviting various
authors with different perspectives and experience, we hope that the book will
provide a multi-faceted picture of the various problems in the field. However,
this also means that the approaches and arguments presented in the different
chapters sometimes differ, depending on the author’s position, view and conception
of knowledge. Each chapter has been subject to a peer-review process;
however, each author is responsible for his own contribution(s)
A Pyramidal Cause of a Cerebellar Ataxia:HSP-7
Get PDFA 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.</p
Functional shades of grey:nuances in diagnosis and management of functional neurological disorders
Get PDFFunctional neurological disorders (FND) are conditions in which people experience symptoms such as weakness, tremors, or seizures, that result from changes in how brain networks function, rather than from structural abnormalities.This thesis aimed to improve the diagnosis, management and understanding of FND. Traditionally seen as a psychiatric problem, FND is now recognized as a neurological condition that benefits from a biopsychosocial approach, acknowledging the interaction between biological, psychological, and social factors.Research described in this thesis showed that, besides physical examination findings (‘positive signs’), clinical features from the patient’s history - such as sudden onset, fluctuating symptoms, fatigue, and psychiatric history - help distinguish FND from other disorders. Combining these features in predictive models improved diagnostic accuracy to nearly 90%.The studies also explored driving ability and healthcare use among FND patients. Findings showed that while their hazard perception is intact or even enhanced, physical symptoms can still affect driving performance. Importantly, when patients receive a clear and satisfactory of their diagnosis, healthcare use drops dramatically. Effective care requires multidisciplinairy, stepped-care approaches, tailored to the individual. Collaboration between neurologists, psychologists, physiotherapists, and other professionals ensures that patients receive the right care at the right time.Overall, this thesis emphasizes that FND care should balance scientific structure with individual flexibility. Understanding the ‘grey areas’ between neurology and psychology is essential to improve diagnosis, treatment, and patient well-being
Supplementary Material for: A Pyramidal Cause of a Cerebellar Ataxia: HSP-7
No full textA 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients
Paroxismale kinesiogene dyskinesie
Get PDFParoxismale kinesiogene dyskinesie (PKD) is voor veel artsen een onbekende bewegingsstoornis, die zich kenmerkt door kortdurende episodes van abnormale bewegingen. Tussen deze aanvallen door is het neurologisch onderzoek bij patiënten met PKD in het geheel niet afwijkend. De diagnose is daardoor vaak lastig te stellen. Wij zien jaarlijks een behoorlijk aantal jonge patiënten met PKD bij wie deze aanvallen goed te behandelen zijn. Een filmpje van een aanval kan uitkomst bieden bij het stellen van de diagnose. Aan de hand van 2 patiënten en hun filmpjes laten wij zien dat er een aantal kenmerken zijn waardoor u de diagnose ‘PKD’ kunt stellen en uw patiënten direct kunt behandelen
A novel diagnostic approach for patients with adult-onset dystonia
Get PDFAdult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias. At the same time, genetic diagnostics in sequencing technology have evolved and revealed several new genes associated with adult-onset dystonia. Furthermore, new phenotype-genotype correlations have been elucidated. Consequently, clinicians face the dilemma of which additional investigations should be performed and whether to perform genetic testing or not. To ensure early diagnosis and to prevent unnecessary investigations, integration of new diagnostic strategies is needed. We designed a new five-step diagnostic approach for adult-onset dystonia. The first four steps are based on a broad literature search and expert opinion, the fifth step, on when to perform genetic testing, is based on a detailed systematic literature review up to 1 December 2021. The basic principle of the algorithm is that genetic testing is unlikely to lead to changes in management in three groups: (1) patients with an acquired form of adult-onset dystonia; (2) patients with neurodegenerative disorders, presenting with a combined movement disorder including dystonic symptoms and (3) patients with adult-onset isolated focal or segmental dystonia. Throughout the approach, focus lies on early identification of treatable forms of dystonia, either acquired or genetic. This novel diagnostic approach for adult-onset dystonia can help clinicians to decide when to perform additional tests, including genetic testing and facilitates early aetiological diagnosis, to enable timely treatment.</p
Optimization of flood safety levels: Case study for unembanked areas in the Port of Rotterdam
No full textAdditional master thesi
Movement simulations on construction sites: An explorative study on the influence of 4D-BIM simulation of construction workers movements on construction sites to workhours and labour productivity
No full textArchitecture, Urbanism and Building Science
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