Ataxia-Telangiectasia. Disease course and management

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

Effects of osmotic perturbation on [Ca2+]i and pHi in rabbit proximal tubular cells in primary culture

Contains fulltext : 21927.PDF (publisher's version ) (Open Access

Culturing induced expression of basolateral Na+-K+-2Cl- cotransporter BSC2 in proximal tubule, aortic endothelium, and vascular smooth muscle

Contains fulltext : 23613___.PDF (publisher's version ) (Open Access

Measuring volume perturbation of proximal tubular cells in primary culture with three different techniques.

Contains fulltext : 22465___.PDF (publisher's version ) (Open Access

Dysarthria in children and adults with ataxia telangiectasia

Contains fulltext : 232754.pdf (Publisher’s version ) (Open Access)AIM: To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia. METHOD: All children and adults with ataxia telangiectasia who visited our multidisciplinary outpatient clinic for ataxia telangiectasia were asked to participate in this study, which took place in March 2019. To evaluate dysarthria, we used the Radboud Dysarthria Assessment in adults (older than 18y) and the paediatric Radboud Dysarthria Assessment in children (5-18y), including the observational tasks 'conversation' and 'reading', and the speech-related maximum performance tasks 'repetition rate', 'phonation time', 'fundamental frequency range', and 'phonation volume'. Speech intelligibility was measured using the Intelligibility in Context Scale. RESULTS: Twenty-two individuals (15 children [5-17y], seven adults [19-47y]; 14 males and eight females; mean age 19y, SD 15y 2mo) participated. Dysarthria was present in all participants and characterized by ataxic components in adults and similar uncontrolled movements in children. In most participants, speech was mildly to mildly/severely affected. Almost all participants had an abnormal score for at least one maximum performance task. INTERPRETATION: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements, resulting in monotonous, unstable, slow, hypernasal, and chanted speech. WHAT THIS PAPER ADDS: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements. Dysarthria in ataxia telangiectasia results in monotonous, unstable, slow, hypernasal, and chanted speech. Dysarthria in ataxia telangiectasia can be assessed using the Radboud Dysarthria Assessment and the paediatric Radboud Dysarthria Assessment

[Myelitis transversa caused by neuroschistosomiasis]

Item does not contain fulltextBACKGROUND: 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

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia

Contains fulltext : 201142.pdf (publisher's version ) (Open Access

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms

Contains fulltext : 190749.pdf (publisher's version ) (Closed access