Stefan J. A. Buk

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Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5(More)
Twenty cases of acute or early multiple sclerosis have been examined using staining, histochemical or immunocytochemical methods. They had died within 6 months after initial clinical onset (12) or commencement of an "anatomically-remote" acute relapse (8). Plaques in these acute cases showed the following characteristics: lymphocytic perivascular(More)
Mutations in the αB-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography(More)
Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. Published pathological reports are scarce. Here we report a male infant who presented from birth with predominantly(More)
The skeletal muscle ryanodine receptor plays a crucial role in excitation-contraction (EC) coupling and is implicated in various congenital myopathies. The periodic paralyses are a heterogeneous, dominantly inherited group of conditions mainly associated with mutations in the SCN4A and the CACNA1S genes. The interaction between RyR1 and DHPR proteins(More)
We present a case of plasma cell predominant lymphoplasmacyte-rich meningioma with numerous crystalline inclusions. A 72-year-old woman presented with 1-year history of memory disturbance and an MRI revealing a right frontal extra-axial mass. Histology showed a benign meningioma with multifocal accumulation of numerous large cells with abundant eosinophilic(More)
A method for the routine combined demonstration of elastica, connective tissue in general, and fibrin is described. Elastica, stained blue-black by Verhoeff's iron hematoxylin, is contrasted with muscle and collagen, stained red and blue or green respectively, by a modification of the Martius-scarlet-blue (MSB) trichrome for fibrin of Lendrum et al. The MSB(More)
Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD). A neuromuscular transmission defect has been reported in one previous patient. We report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.(More)
AIMS To describe the birefringent saponified fatty acid crystalloids seen in pancreatic fat necrosis. METHODS A histological review, including polarising microscopy, of three cases of subacute or subclinical acute pancreatitis was performed. Histochemical analysis using Nile blue sulphate for lipid, Holczinger's copper rubeanate for fatty acids, and(More)
Preliminary observations suggested that arterial and arteriolar necrosis in vasculitis of the peripheral nerve leads to local haemorrhage and subsequent deposition of haemosiderin. This pigment is more readily recognized in the nerve by the sensitive Perls' test for iron than by relying on recognizing its yellow colour. To support the use of iron staining(More)