RB1 (retinoblastoma)

Review on RB1 (retinoblastoma), with data on DNA, on the protein encoded, and where the gene is implicated

Retinoblastoma

Review on Retinoblastoma, with data on clinics, and the genes involved

Architekturführer Mies van der Rohe im Westen

Über Ludwig Mies van der Rohe ist alles gesagt, oder? 1886 in Aachen geboren, entwickelte er sich zu einem der renommiertesten und bekanntesten Architekten weltweit – mit ikonischen Bauten wie der Neuen Nationalgalerie in Berlin oder Bauten wie dem Seagram Building in New York. Viele Publikationen sind zu seinem Leben und seinen Arbeiten erschienen. Jedoch finden die nordrhein-westfälischen Projekte, mit Ausnahme der Krefelder Villen Lange und Esters, darin erstaunlich wenig Beachtung. Erstaunlich deshalb, weil sich besonders an diesen Projekten sehr eindrucksvoll sein Lebensweg aufzeigen lässt – vom rheinischen Handwerkslehrling über den Bauhausdirektor bis hin zum weltweit agierenden Architekten. Innerhalb der Baukunst des 20. Jahrhunderts spiegeln seine Arbeiten im heutigen Nordrhein-Westfalen die Entwicklung vom Jugendstil zum International Style. Der Erforschung dieser vielfältigen Spuren widmen sich mittlerweile seit vielen Jahren Studentinnen und Studenten sowie Wissenschaftlerinnen und Wissenschaftler unterschiedlicher westdeutscher Architektur-Hochschulen. Unter der Leitung der beiden Herausgeber, Prof. Dr. Daniel Lohmann und Prof. Norbert Hanenberg, dieses Architekturführers wurden die Projekte dokumentiert, Spuren gelesen, Quellen ausgewertet, und die Geschichte von „Mies im Westen“ wurde nachvollzogen. Die vorliegende Publikation ist in Zusammenarbeit mit dem Museum für Architektur und Ingenieurkunst NRW im Rahmen der Lehrveranstaltungen der TH Köln und der TH Mittelhessen (Gießen) mit Studierenden entstanden

The Evolution of Bat Vestibular Systems in the Face of Potential Antagonistic Selection Pressures for Flight and Echolocation

PMCID: PMC3634842This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling

<p>Abstract</p> <p>Background</p> <p>The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father.</p> <p>Methods</p> <p>Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity.</p> <p>Results</p> <p>The proband was a carrier of a novel <it>RB1</it> constitutive mutation (g.2056C>G) which was not detected in her father or her unaffected sisters, and of two other mutations (g.39606 C>T and g.174351T>A) also present in two monozygotic sisters. The novel mutation probably occurred de novo while the others were of likely maternal origin. The novel mutation, affecting the Kozak consensus at the 5'UTR of <it>RB1</it> and g.174351T>A were likely associated to retinoblastoma in the proband.</p> <p>Conclusion</p> <p>Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling.</p

Articular cartilage mineralization in osteoarthritis of the hip

<p>Abstract</p> <p>Background</p> <p>The aim of this study was to examine the frequency of articular cartilage calcification in patients with end-stage hip OA. Further, its impact on the clinical situation and the OA severity are analyzed.</p> <p>Methods</p> <p>Eighty patients with OA of the hip who consecutively underwent total hip replacement were prospectively evaluated, and 10 controls were included. The patients' X-rays were analyzed for the presence of articular cartilage mineralization. A Harris Hip Score (HHS) was preoperatively calculated for every patient.</p> <p>Slab specimens from the femoral head of bone and cartilage and an additional square centimeter of articular cartilage from the main chondral defect were obtained from each patient for analysis of mineralization by digital contact radiography (DCR). Histological grading was also performed. In a subset of 20 patients, minerals were characterized with an electron microscope (FE-SEM).</p> <p>Results</p> <p>Calcifications were seen in all OA cartilage and slab specimens using DCR, while preoperative X-rays revealed calcification in only 17.5%. None of the control cartilage specimens showed mineralization. There was a highly significant inverse correlation between articular cartilage calcification and preoperative HHS. Histological OA grade correlated positively with the amount of matrix calcification. FE-SEM analysis revealed basic calcium phosphate (BCP) as the predominant mineral; CPPD crystals were found in only two patients.</p> <p>Conclusions</p> <p>Articular cartilage calcification is a common event in osteoarthritis of the hip. The amount of calcification correlates with clinical symptoms and histological OA grade.</p

Retinoblastoma

Retinoblastoma is a rare eye tumor of childhood that arises in the retina. It is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000–20,000 live births. The two most frequent symptoms revealing retinoblastoma are leukocoria and strabismus. Iris rubeosis, hypopyon, hyphema, buphthalmia, orbital cellulites and exophthalmia may also be observed. Sixty per cent of retinoblastomas are unilateral and most of these forms are not hereditary (median age at diagnosis two years). Retinoblastoma is bilateral in 40% of cases (median age at diagnosis one year). All bilateral and multifocal unilateral forms are hereditary. Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers. Diagnosis is made by fundoscopy. Ultrasound, magnetic resonance imaging (MRI) and computed tomography (CT) scans may contribute to diagnosis. Management of patients with retinoblastoma must take into account the various aspects of the disease: the visual risk, the possibly hereditary nature of the disease, the life-threatening risk. Enucleation is still often necessary in unilateral disease; the decision for adjuvant treatment is taken according to the histological risk factors. Conservative treatment for at least one eye is possible in most of the bilateral cases. It includes laser alone or combined with chemotherapy, cryotherapy and brachytherapy. The indication for external beam radiotherapy should be restricted to large ocular tumors and diffuse vitreous seeding because of the risk of late effects, including secondary sarcoma. Vital prognosis, related to retinoblastoma alone, is now excellent in patients with unilateral or bilateral forms of retinoblastoma. Long term follow-up and early counseling regarding the risk of second primary tumors and transmission should be offered to retinoblastoma patients

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

<p>Abstract</p> <p>Background</p> <p>Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (<it>RB1</it>) mutations. In germline retinoblastoma, mutations in the <it>RB1 </it>gene predispose individuals to increased cancer risks during development. These mutations segregate as autosomal dominant traits with high penetrance (90%).</p> <p>Methods</p> <p>We screened 30 family members from one family using high resolution melting assay and DNA direct sequencing for mutations in the <it>RB1 </it>gene. We evaluate the phenotype and penetrance of germline mutations of the <it>RB1 </it>gene in a large Taiwanese family.</p> <p>Results</p> <p>The molecular analysis and clinical details of this family showed phenotypic variability associated with the p.V654L mutation in exon 19 of the <it>RB1 </it>gene in 11 family members. The phenotype varied from asymptomatic to presence of a unilateral tumor. Only four individuals (2 males and 2 females) developed unilateral retinoblastoma, which resulted in calculated low penetrance of 36% (4/11). The four individuals with retinoblastoma were diagnosed before the age of three years. None of their relatives exhibited variable severity or bilateral retinoblastoma.</p> <p>Conclusions</p> <p>The diseased-eye ratio for this family was 0.36, which is lower than current estimates. This suggests that the <it>RB1 </it>p.V654L mutation is a typical mutation associated with low penetrance.</p