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Dissertation
Outcome of melanoma in solid organ transplant recipients.
Authors: --- --- ---
Year: 2020 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Background Increased incidence of malignant melanomas developing de novo after transplantation is already established and many risk factors are found. Outcomes considering these melanomas are not fully explored and need further investigation. Objective The aim of this narrative review was to investigate overall survival (OS) and melanoma specific mortality (MSM) of melanomas that developed de novo after solid organ transplantation (SOT) when compared to immunocompetent patients with a diagnosis of melanoma. Methods A systematic literature search was conducted in Pubmed to identify studies reporting on melanomas developed de novo after transplantation and their outcome. Results Of the six articles included, all except one found a worse OS for melanomas developed de novo after transplantation when compared to melanomas in immunocompetent patients. MSM was also increased in these five studies, but not for every Clark level, Breslow thickness or the American Joint Committee on Cancer (AJCC) staging. Conclusion A worse overall survival can be expected in the organ transplant recipient (OTR) population that developed melanomas de novo. There is still much heterogeneity in MSM adjusted for Breslow thickness, AJCC staging and Clark level, with no clear-cut answers. Prospective studies are needed to further clarify MSM in the OTR population that developed melanomas de novo.

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Dissertation
PIK3CA-Related Overgrowth Spectrum: a case report and review of literature.
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Year: 2016 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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This paper presents a patient with extensive overgrowth of lipomatous tissue, capillary malformations, keratinocytic epidermal nevi and neurological manifestations and is an exemplary presentation of the PIK3CA-Related Overgrowth Spectrum (PROS). The patient could not be classified into classic clinical entities such as MCAP-syndrome and CLOVES-syndrome and is thereby a textbook example of the overlap covered by the umbrella term PROS. A somatic PIK3CA-mutation was discovered in fresh tissue samples and confirmed the clinical diagnosis. As was the case with this boy, patients with PROS have a difficult prognosis and treatment is merely symptomatic. But investigations into the pathophysiological mechanisms have led to the understanding that treatment with PI3K-inhibitors might slow overgrowth progression, but more clinical experience has to be obtained to implement this in clinical practise.

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Dissertation
A narrative review on porocarcinoma
Authors: --- --- ---
Year: 2023 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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ABSTRACT Background: Porocarcinoma is a rare cutaneous tumor that originates from sweat glands with a high mortality risk. Because this tumor is so uncommon, little is known about its origin, clinical appearance, diagnosis, treatment, and outcome. Up till now, no thorough review is published on all these characteristics of porocarcinoma. Objectives: This narrative review aims to give an overview of the recent literature on porocarcinoma. Epidemiology, clinical presentation, etiology, diagnosis, treatment, and prognosis are discussed. Methods: A systematic search, restricted to articles published between the first of April 2012 and the 31st of March 2022, was conducted in Pubmed and Embase to identify the literature on porocarcinoma. After screening, a total of 22 reviews were included. Results: Patients affected by porocarcinoma are commonly more than 60 years old, seemingly without any preference for other epidemiological subgroups. It usually presents as an ulcerating nodule or plaque, often on the lower extremities, head, and neck. Clinical presentation and histology are very variable, commonly leading to a difficult diagnosis and diagnostic delay with devastating consequences. Treatment usually consists of wide local excision or Mohs micrographic surgery. The role of tumor staging and systemic therapy is not clear, although clarification is needed since the recurrence rate after surgical treatment is 20-35% and the mortality is approximately 70% when lymph nodes are involved. Conclusion: Further and larger scale research is needed on all aspects of porocarcinoma to better understand this malignancy and ultimately improve the outcome of patients.

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Dissertation
It looks like atopic dermatitis but it is more: a practical overview on genetic disorders with eczema.
Authors: --- ---
Year: 2016 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Disorders of skin barrier and primary immunodeficiencies are severe early onset and sometimes life-threatening genodermatoses. Comel-Netherton syndrome, peeling skin syndrome type B, SAM syndrome, ectodermal dysplasia, Dubowitz syndrome, hyperimmunoglobulin E syndromes, 22q11.2 deletion syndrome, Wiskott-Aldrich syndrome, IPEX syndrome and Omenn syndrome are all disorders presenting with eczema and may look like atopic dermatitis, thereby postponing the correct diagnosis and treatment. Knowledge of specific clinical features is crucial to differentiate from atopic dermatitis. In this article we will give an overview of rare skin diseases that are frequently misdiagnosed as atopic dermatitis, highlighting warning signs which are helpful in early detection of such complex disorders.

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Dissertation
De associatie tussen vitamine D serumconcentraties en atypische nevi bij patiënten met cutaan maligne melanoom
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Year: 2018 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Dissertation
Cosmetic components causing contact urticaria: a review and update.
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Year: 2017 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Immediate skin reactions are common in dermatological practice, but may often be overlooked. The main objective of this article is to provide an update of the literature concerning immediate-type reactions or contact urticaria/contact urticaria syndrome caused by cosmetic ingredients in terms of immediate clinical symptoms, positive reactions following open, scratch or, most often, prick testing, and sometimes the detection of specific IgE antibodies. To this end, a selective search in different medical literature databases was performed. This yielded a list of cosmetic ingredients causing immediate reactions, including hair dyes and bleaches, preservatives, fragrance and aroma chemicals, sunscreens, hair glues, plant-derived and animal-derived components, permanent makeup and tattoos, glycolic acid peel, lip plumper, and alcohols. Many of the reported cases, however, lack appropriate controls and detailed investigation. Contact urticaria may occur with or without systemic symptoms, which are sometimes life-threatening.

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Dissertation
Bona fide tumor suppressor genes hypermethylated or deleted in melanoma: a narrative review
Authors: --- --- ---
Year: 2021 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Background – Loss-of-function events in tumor suppressor genes (TSGs) contribute to the development and progression of cutaneous malignant melanoma (CMM). Genetic (e.g. deletion) and epigenetic (e.g. promotor CpG-island hypermethylation) alterations are the major mechanisms of TSG inactivation. TSGs are valuable in diagnosis, prognosis and targeted therapy. The large amount of evidence about TSG inactivation mechanisms and its role in melanoma demands a clear overview. Objective – The aim of this narrative review is to outline bona fide TSGs affected by deletion or promotor CpG-island hypermethylation and their functional role in CMM. Methods – We conducted a systematic literature search to identify studies providing evidence of bona fide TSGs by cell line or animal experiments. We performed a broad first search and a gene-specific second search, supplemented by reference checking. Results – We included 52 studies describing 41 bona fide TSGs in CMM; 25 affected by promotor CpG- island hypermethylation, 8 by deletion and 8 by both. We extracted data about protein role, pathway, experiments conducted to meet the bona fide criteria and hallmarks of cancer acquired by TSG inactivation. If required, we combined these studies with articles focusing on TSG expression and inactivation mechanisms in CMM. Conclusion – A total of 41 bona fide TSGs hypermethylated or deleted in CMM were identified as well as their effect on cell proliferation, apoptosis, growth, senescence, angiogenesis, migration, invasion or metastasis. Future animal or cell line experiments with candidate TSGs, research on inactivation mechanisms of bona fide TSGs and reviews on TSGs affected by other (epi)genetic inactivation mechanisms would be complementary to our study.

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Dissertation
Incidence and survival of cutaneous melanoma in Belgium and the Netherlands from 2004 to 2016: striking differences and similarities of two neighbouring countries
Authors: --- ---
Year: 2023 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Background: Cutaneous melanoma (CM) is a multifactorial disease, with both environmental and genetic factors involved. The incidence of CM has risen rapidly during the last decades, making it a growing public health problem. Objectives: The purpose of this retrospective study was to compare incidence and survival data of CM between two neighbouring countries, Belgium (BE) and the Netherlands (NL). Methods: Data were collected by the Belgian Cancer Registry (BCR) and the Netherlands Cancer Registry (NCR) from 1 January 2004 until 31 December 2016. Mucosal melanoma, in situ CM and melanoma in children from 0 to 14 years were excluded. Age-standardized incidence rates were calculated using the World Standard Population (WSR) per 100 000 persons. Five-year relative survival ratios were calculated using the Ederer II methodology. Results: Total number of CM was higher in NL (63 789) compared with BE (27 679). The WSR was 1.5 times higher in NL compared with BE (27.7 vs. 18.6/100 000/year). The WSR of stage IV tumours was higher in BE than in NL (0.3 vs. 0.2/100 000/year). Five-year relative survival of stage IV tumours was higher in BE compared with NL (27.2% vs. 13.7%). Conclusions: Incidence of CM was higher in NL, indicating a higher risk of CM diagnosis. Stage IV tumours were relatively more frequent in BE for both sexes, while relative survival of stage IV tumours was higher in BE. As geographical location and latitude of both neighbouring countries are almost identical, other factors like differences in behaviour, follow-up and/or treatment may explain these differences.

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Dissertation
Association between psoriasis and venous thromboembolism: a systematic review of the literature
Authors: --- --- ---
Year: 2020 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Background: Psoriasis is a chronic inflammatory skin disease associated with numerous comorbidities. This skin disorder has been shown to increase cardiovascular risk, atherothrombotic events and hypercoagulability. It has been reported that psoriasis patients have an increased incidence of venous thromboembolism. Venous thromboembolism (VTE) comprises pulmonary embolism (PE), deep vein thrombosis (DVT) and retinal vein occlusion (RVO). Objectives: This systematic review aims to give an overview of the reported incidence of VTE in patients with psoriasis. Methods: We conducted a systematic review of observational studies. A systematic research was accomplished to identify all relevant articles. An electronic search was conducted on PubMed, Web of Science, Embase and Cochrane. Only English literature was included. Additionally, reference lists of included articles were hand searched. Results: Eight articles were included in the review. Due to heterogeneity of the reported data it was deemed inappropriate by the authors to perform a meta-analysis. A clear trend towards increased incidence rate of VTE in psoriasis patients was observed, however not always significant. In adjusted models this trend was also observed. Conclusion: Existing literature suggests that psoriasis patients have an increased risk of developing VTE compared to healthy controls. Clinicians should be aware of this potentially life-threatening comorbidity.

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Dissertation
Pityriasis lichenoides varioliformis et acuta: van diagnose tot follow-up.
Authors: --- ---
Year: 2016 Publisher: Leuven KU Leuven. Faculteit Geneeskunde

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Pityriasis lichenoides (PL) is een spectrum van verworven papulosquameuze dermatosen, waarvan pityriasis lichenoides varioliformis et acuta (PLEVA) en pityriasis lichenoides chronica (PLC) de twee uitersten vertegenwoordigen. De dermatose wordt vaak als een inflammatoire reactie beschouwd, echter de juiste etiologie werd nog steeds niet achterhaald. PL wordt daarentegen ook soms in de literatuur beschreven als zijnde een lymfoproliferatieve aandoening en maakt, omwille van klinische en histologische correlaties met lymfomatoide papulose en papulaire mycosis fungoides, deel uit van het spectrum van cutane lymfoproliferatieve dermatosen – cutane lymfomen. Het aantreffen van T-celklonen in huidbiopsies bij patiënten met PL en de zeldzaam beschreven associaties met cutane T-cellymfomen (CTCL), wijst dan ook in deze richting. Een accurate diagnose en classificatie van deze dermatose is noodzakelijk om een goede behandeling en prognose te kunnen waarborgen. Algemeen neemt men aan dat PL een benigne verloop kent, echter een goede opvolging van deze patiënten op lange termijn is noodzakelijk om een eventuele transformatie naar een maligne T-celproliferatie te kunnen onderzoeken, en vroegtijdig te kunnen behandelen (1-5).

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