PURPOSE Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition. METHODS The role of four candidate genes implicated in ocular development or glaucoma, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with Peters anomaly. Mutational analysis used a combination of single...

Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...

Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...

Technology (MIT) Mediated Matter Group is honing its research into robotic swarm printing by focusing its efforts on material sophistication, or ‘tunability’, and communication or coordination between fabrication units. Here, the group’s Neri Oxman, Jorge Duro-Royo, Steven Keating, Ben Peters and Elizabeth Tsai illustrate this by describing three case studies that investigate robotically contro...

Bijnsdorp, I V; Schwendener, R A; Schott, H; Schott, S; Fichtner, I; Honeywell, R J; Losekoot, N; Laan, A C; Peters, G J Bijnsdorp, I V; Schwendener, R A; Schott, H; Schott, S; Fichtner, I; Honeywell, R J; Losekoot, N; Laan, A C; Peters, G J (2008). In vitro activity and mechanism of action of a duplex and multidrug of ethynylcytidine and 5-fluorodeoxyuridine. Nucleic Acids Symposium Series (20...

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Many of the changes that have occurred during the course of evolution are mysterious. It is an undirected process: the raw fodder for evolutionary change is what is present in the organisms alive and breeding now. Sometimes, it can be difficult to picture how it might happen. For example, four million years ago, the human chromosome 2 was formed from the fusion of two chromosomes that are still...

Definition Genetic counselling is “a process of communication that deals with the occurrence, or risk of occurrence, of a (possibly) genetic disorder in the family” (ASHG, 1975; EuroGentest guidelines). It involves an attempt, by appropriately trained persons, to help patients and their families to (1) understand the medical facts of the disease; (2) appreciate the contribution of heredity and ...