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Contains fulltext : 201142.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 230651.pdf (Publisher’s version ) (Open Access) Radboud University, 19 maart 2021 Promotores : Willemsen, M.A.A.P., Warrenburg, B.P.C. van de Co-promotores : Weemaes, C.M.R., Roeleveld, N. 300 p.

Item does not contain fulltext BACKGROUND: Neuroschistosomiasis is a severe complication of an infection with Schistosoma; this infection can lead to myelitis transversa. Acute myelitis transversa is a rare disorder of the spinal cord, which can present with muscular weakness, sensory disturbance and intestinal or bladder dysfunction. CASE DESCRIPTION: A 17-year-old refugee from Eritrea, who had been in the Netherlands for 3 weeks, suffered from back pain and progressive weakness of both legs for one week. Both the clinical presentation and the MRI images were consistent with myelitis transversa. Schistosomamansoni eggs were found in the faeces, and antibodies to Schistosoma eggs and worms were found in both liquor and serum, leading to a diagnosis of neuroschistosomiasis. The patient recovered completely following treatment with praziquantel and prednisone. CONCLUSION: Schistosomiasis is a commonly occurring parasitic disease in sub-Saharan Africa, which can lead to myelitis transversa if it spreads to the spinal cord. Early detection and treatment are necessary to prevent lasting damage. A good geographical case history is essential for this process.

Item does not contain fulltext Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also carry a pathogenic ATM mutation. Female carriers of such a mutation have an increased risk of breast cancer. Other health risks for carriers are suspected but have never been studied systematically. Consequently, evidence-based guidelines for carriers are not available yet. We systematically analyzed all literature and found that ATM mutation carriers have a reduced life expectancy because of mortality from cancer and ischemic heart diseases (RR 1.7, 95% CI 1.2-2.4) and an increased risk of developing cancer (RR 1.5, 95% CI 0.9-2.4), in particular breast cancer (RRwomen 3.0, 95% CI 2.1-4.5), and cancers of the digestive tract. Associations between ATM heterozygosity and other health risks have been suggested, but clear evidence is lacking. Based on these results, we propose that all female carriers of 40-50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer. Furthermore, all carriers should be made aware of lifestyle factors that contribute to the development of cardiovascular diseases and diabetes.