1,364,536 research outputs found
Beckwith-Wiedemann Syndrome
No full textThis chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders. It starts with a description of the clinical aspects of the condition, including diagnostic criteria, differential diagnosis, risk of malignancy, and management. This is followed by an in-depth description of the genetic causes of the syndrome and of the molecular pathways involved in the pathogenesis of this disorder. The complexities of the etiology, which involves two neighboring loci, each one regulated by finely tuned imprinting mechanisms, are clearly delineated. The chapter also touches on the reported association between in vitro fertilization and risk of conceiving a baby with this syndrome
New and old species of Ommatius Wiedemann (Diptera: Asilidae) from Hispaniola
No full textFour new species of Ommatius Wiedemann, the female of O. stramineus Scarbrough, and the male of 0. nigellus Scarbrough from Hispaniola are described. A lectotype for O. gwenae Scarbrough and a neotype for O. cinnamomeus are selected. Notes of previously named species, new records, illustrations of terminalia, and a key to the species are included
Bert Wiedemann
No full textMurrupuritiyanuwu, Aboriginal school girls from Tiwi Island behind the totem pole and plaque to commemorate Matthias Ulungura. Plaque reads: "This memorial was erected by the Northern Territory Government in recognition of Matthias Ulungura 1921-1980 Who, unarmed, on 19th Feb. 1942 on Melville Island captured the first Japanese prisoner of war (a zero pilot) to be taken on Australian soil."Wiedemann, Bert.Date:1985-0
Bert Wiedemann
No full textA Boner and Slicer dressing a side of beef at an abattoir. (Could be Wildman River Abattoir).Wiedemann, Bert
Bert Wiedemann
No full textRegistration area for evacuees after Cyclone Tracy. Photo shows a registration board and several people waiting around. Casuarina High School was the centre for registering for evacuation.Wiedemann, Albert
Bert Wiedemann
No full textYoung Aboriginal man sitting in a yellow ute. Stickers on the door "Country Liberal Party : The Mob for the Job".Wiedemann, Bert.Date:198
Bert Wiedemann
No full textMurrupuritiyanuwu, Aboriginal school girls at the ceremony to unveil the plaque to commemorate Matthias Ulungura. Plaque reads: "This memorial was erected by the Northern Territory Government in recognition of Matthias Ulungura 1921-1980 Who, unarmed, on 19th Feb. 1942 on Melville Island captured the first Japanese prisoner of war (a zero pilot) to be taken on Australian soil."Wiedemann, Bert.Date:1985-0
Bert Wiedemann
No full textAboriginal dancers at the ceremony to unveil the cairn to commemorate Matthias Ulungura. Plaque reads: "This memorial was erected by the Northern Territory Government in recognition of Matthias Ulungura 1921-1980 Who, unarmed, on 19th Feb. 1942 on Melville Island captured the first Japanese prisoner of war (a zero pilot) to be taken on Australian soil." Sitting under the canvas is Chief Minister, Ian Tuxworth and Leader of the Opposition, Bob Collins (yellow shirt to the right of cairn).Wiedemann, Bert.Date:1985-0
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
No full textBackgroundBeckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with molecular studies commonly performed to confirm diagnosis. In particular, methylation status analysis at two 11p15.5 imprinting control centres (IC1 and IC2) detects up to 80% of BWS cases (though low-level mosaicism may not be detected). In order to evaluate the relationship between the clinical presentation of suspected BWS and IC1/2 methylation abnormalities we reviewed the results of >1,000 referrals for molecular diagnostic testing. ResultsOut of 1,091 referrals, 507 (46.5%) had a positive diagnostic test for BWS. The frequency of tumours was 3.4% in those with a molecular diagnosis of BWS. Previously reported genotype-phenotype associations with paternal uniparental disomy, IC1, and IC2 epimutation groups were confirmed and potential novel associations detected. Predictive values of previously described clinical diagnostic criteria were compared and, although there were differences in their sensitivity and specificity, receiver operating characteristic (ROC) analysis demonstrated that these were not optimal in predicting 11p15.5 methylation abnormalities. Using logistic regression, we identified clinical features with the best predictive value for a positive methylation abnormality. Furthermore, we developed a weighted scoring system (sensitivity 75.9%, and specificity 81.8%) to prioritise patients presenting with the most common features of BWS, and ROC analysis demonstrated superior performance (area under the curve 0.85, 95% CI 0.83 to 0.87) compared to previous criteria. ConclusionsWe suggest that this novel tool will facilitate selection of patients with suspected BWS for routine diagnostic testing and so improve the diagnosis of the disorder. <br/
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