4 results on '"Verbeke JI"'
Search Results
2. Brain abnormalities on MR imaging in patients with retinoblastoma.
- Author
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Rodjan F, de Graaf P, Moll AC, Imhof SM, Verbeke JI, Sanchez E, and Castelijns JA
- Subjects
- Aicardi Syndrome genetics, Aicardi Syndrome pathology, Brain abnormalities, Brain Neoplasms congenital, Brain Neoplasms genetics, Child, Preschool, Chromosome Deletion, Chromosome Disorders pathology, Chromosomes, Human, Pair 13, Dandy-Walker Syndrome genetics, Dandy-Walker Syndrome pathology, Female, Humans, Infant, Infant, Newborn, Male, Pinealoma congenital, Pinealoma genetics, Retinal Neoplasms congenital, Retinal Neoplasms genetics, Retinoblastoma congenital, Retinoblastoma genetics, Brain Neoplasms pathology, Magnetic Resonance Imaging, Pineal Gland pathology, Pinealoma pathology, Retinal Neoplasms pathology, Retinoblastoma pathology
- Abstract
Background and Purpose: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent studies suggest an association with pineal cysts. This association is important because some pineoblastomas mimic pineal cysts. If there is a relationship, then radiologists should be aware of it because diagnostic confusion is possible. Mental retardation and congenital brain anomalies are also reported in patients with retinoblastoma, mostly in combination with 13q deletion syndrome. In this retrospective study, the presence of brain abnormalities on MR images in a large group of consecutive patients with retinoblastoma is evaluated., Materials and Methods: Brain MR images of 168 patients with retinoblastoma from 1989 to 2009 were evaluated by 2 radiologists for tumors, structural anomalies, myelinization, and coincidental findings. Clinical records were reviewed for laterality, heredity, and the presence of the 13q deletion syndrome., Results: The hereditary group (patients with bilateral and unilateral proved RB1-germline mutation) included 90 (54%) of 168 patients. Seven patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 150 (89%) patients. Five pineoblastomas were detected, all in patients with hereditary retinoblastoma (5.5% in the hereditary subgroup). Nine pineal cysts were detected (2.2% in the hereditary subgroup). Corpus callosum agenesis was found in 1 patient and a Dandy-Walker variant in 1 patient, both in combination with 13q deletion syndrome., Conclusions: Pineoblastoma is associated with hereditary retinoblastoma, and structural brain abnormalities are restricted to patients with the 13q deletion syndrome. The incidence of pineal cysts in patients with retinoblastomas is similar to that in healthy children and is not associated with hereditary retinoblastoma.
- Published
- 2010
- Full Text
- View/download PDF
3. PPIB mutations cause severe osteogenesis imperfecta.
- Author
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van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, and Pals G
- Subjects
- Catalysis, Collagen chemistry, Cyclophilins metabolism, Cyclophilins physiology, DNA Mutational Analysis, Family Health, Female, Fibroblasts metabolism, Humans, Pregnancy, Procollagen-Proline Dioxygenase metabolism, Proline chemistry, Protein Structure, Tertiary, Cyclophilins genetics, Mutation, Osteogenesis Imperfecta genetics
- Abstract
Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position 986 (P986) in the alpha1 chains of collagen type I. This 3-prolyl hydroxylation is decreased in patients with CRTAP and P3H1 deficiency. It was suspected that mutations in the PPIB gene encoding CyPB would also cause OI with decreased collagen 3-prolyl hydroxylation. To our knowledge we present the first two families with recessive OI caused by PPIB gene mutations. The clinical phenotype is compatible with OI Sillence type II-B/III as seen with COL1A1/2, CRTAP, and LEPRE1 mutations. The percentage of 3-hydroxylated P986 residues in patients with PPIB mutations is decreased in comparison to normal, but it is higher than in patients with CRTAP and LEPRE1 mutations. This result and the fact that CyPB is demonstrable independent of CRTAP and P3H1, along with reported decreased 3-prolyl hydroxylation due to deficiency of CRTAP lacking the catalytic hydroxylation domain and the known function of CyPB as a cis-trans isomerase, suggest that recessive OI is caused by a dysfunctional P3H1/CRTAP/CyPB complex rather than by the lack of 3-prolyl hydroxylation of a single proline residue in the alpha1 chains of collagen type I.
- Published
- 2009
- Full Text
- View/download PDF
4. Ultrasonographically measured testicular volumes in 0- to 6-year-old boys.
- Author
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Kuijper EA, van Kooten J, Verbeke JI, van Rooijen M, and Lambalk CB
- Subjects
- Child, Child, Preschool, Humans, Infant, Infant, Newborn, Male, Organ Size, Reference Values, Ultrasonography, Testis anatomy & histology, Testis diagnostic imaging
- Abstract
Background: Aside from converted data from orchidometer measurements, there are no referential values for testicular volume ultrasound measurements in children available. Therefore, the aim of this study was to obtain ultrasonographically measured normative data for testicular volumes in 0- to 6-year-old boys., Methods: A total of 344 boys from different ethnic backgrounds were studied. For the ultrasound measurements, an Aloka SSD-900 was used with a 7.5 mHz linear transducer. Testicular volume was calculated using the formula: length x width x height x (pi/6)., Results: No differences were found either between the various ethnic groups or between the left and right testicle. Mean testicular volume was compared between the different age categories. Mean testicular volume increases significantly in the first 5 months from 0.27 to 0.44 cm(3) after which the volume decreases to 0.31 cm(3) at approximately 9 months. During the following years, testicular volume remains stable., Conclusions: This study provides normal values for ultrasonographically measured testicular volumes in 0- to 6-year-old boys. Ultrasound is a valid method to measure small pre-pubertal testicles as it is able to detect minor changes in volume in relation to established physiological changes in the first year of life.
- Published
- 2008
- Full Text
- View/download PDF
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