1000 resultados para PHENYLALANINE-82


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In the last decade attosecond technology has opened up the investigation of ultrafast electronic processes in atoms, simple molecules and solids. Here we report the application of isolated attosecond pulses to prompt ionization of the amino acid phenylalanine, and the subsequent detection of ultrafast dynamics on a sub-4.5-fs temporal scale, which is shorter than the vibrational response of the molecule. The ability to initiate and observe such electronic dynamics in polyatomic molecules represents a crucial step forward in attosecond science, which is progressively moving towards the investigation of more and more complex systems.

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Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for disease characterization and clinical prognoses. A retinal capture panel that enriches 186 known retinal disease genes, including 55 known RP genes, was developed. Targeted next-generation sequencing was performed for a cohort of 82 unrelated RP cases from Northern Ireland, including 46 simplex cases and 36 familial cases. Disease-causing mutations were identified in 49 probands, including 28 simplex cases and 21 familial cases, achieving a solving rate of 60 %. In total, 65 pathogenic mutations were found, and 29 of these were novel. Interestingly, the molecular information of 12 probands was neither consistent with their initial inheritance pattern nor clinical diagnosis. Further clinical reassessment resulted in a refinement of the clinical diagnosis in 11 patients. This is the first study to apply next-generation sequencing-based, comprehensive molecular diagnoses to a large number of RP probands from Northern Ireland. Our study shows that molecular information can aid clinical diagnosis, potentially changing treatment options, current family counseling and management.

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Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the treatment. The lack of data concerning phenylalanine contents of processed foodstuffs is an additional limitation for an already very restrictive diet. Our goals were to quantify protein (Kjeldahl method) and amino acid (18) content (HPLC/fluorescence) in 16 dishes specifically conceived for phenylketonuric patients, and compare the most relevant results with those of several international food composition databases. As might be expected, all the meals contained low protein levels (0.67–3.15 g/100 g) with the highest ones occurring in boiled rice and potatoes. These foods also contained the highest amounts of phenylalanine (158.51 and 62.65 mg/100 g, respectively). In contrast to the other amino acids, it was possible to predict phenylalanine content based on protein alone. Slight deviations were observed when comparing results with the different food composition databases.

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Back Row: Pat Woodburn (Coach), Rhonda Walcarius, Melanie Brown, Patty Stamps, Lyn Storm, Diane Hilko, Jackie Kuntze, Janice Jockel Front Row: Maureen Kelly, Lena Olszewski, Trudy Montel, Carolyn Foreman, Dawn Dixon, Peggy Stamps

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Back Row: Al Pedler (Coach), Murray McEachern, John Popham, David Heyworth, Colin Harris, George Nixon Middle Row: Renee Traver, Wendy Wells Front Row: Maggie Swan, Debbie Belair, Katherine Coy

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Back Row: Murray Mc Eachern, John Popham, Colin Harris, David Heyworth, George Nixon, Al Pedler (Coach) Front Row: Maggie Swan, Debbie Belair, Katharine Coy

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Back Row: Paul Jackson (Asst. Coach), Paul DeGagne (Manager), Angelo Pontello, Yvan Prevost, Greg Foy, Ken Murray, Steve Ashfield, Rick Berard, Andy MacMillan, Kelly Toppazzini, Carl Van Bolderen, John Dakin, Loran Prentice, Joe Kenny (Trainer), Ron Anderson (Coach) Front Row: Logan Trafford, Mark Warren, Pat Gallagher, Phil Powers, Daryl Clancy, Ted Sawicki, Gord Christie, John Hogg, Brian Onifrichuk, Doug Riopelle, Shawn Barry Absent: Paul Hanley, Brad MacMillan, Rico Schirru, Mike Quinn (Asst. Coach)

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Sue Quait receiving the Oarswoman of the Year award from coach John Gleddie

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Back Row: J.B. Owens, Ross Smith (Head Coach), Adam Frost, Derrick Harwood, Dave DeRose, Bill Arniel, Danny Mazor, Alan Ross, Randy McKeller, Pete McDougall, Ray D'Archi, Kelvin Oda, Mark Pelletier, Eric Thompson, Marty Houston, Ken White (Asst. Coach) Front Row: Peter Love, Chris Peskett, Duff Porteous, Bart Ward, Dave Sohmer, Gary Gautier, Ken Murray, Dave Tamowski, Steve Shaughnessy, Jeff Wood Absent: Alfred Esmaily, Luc Gignac, Fred Kovacs, Andrew Norman