Carrier screening

Xem 1-5 trên 5 kết quả Carrier screening
  • When the first edition of Genetic Screening and Counseling was published in 2002,1 the draft of the human genome had just been declared sequenced.2 Since then, the sequence has become nearly finalized, and the focus is turning to translation of this information to the bedside. The genomics era is increasingly bearing fruit and promises a paradigm shift in research and medical practice. To the clinician, counseling and genetic diagnoses will become an increasing part of daily practice. The generalist obstetrician/gynecologist is included....

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  • Thirteen glucose analogues bearing electrophilic groups were synthesized (five of themfor the first time) and screened as inhibitors of the glucose transporter (EII Glc )of the Escherichia coli phosphoenolpyruvate–sugar phospho-transferase system (PTS). 2¢,3¢-Epoxypropyl b-D-glucopyr-anoside (3a) is an inhibitor and also a pseudosubstrate. Five analogues are inhibitorsofnonvectorialGlcphosphorylation by EII Glc but not pseudosubstrates.

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  • Secondary prevention refers to the detection and management of presympto- matic disease, and the prevention of its progression to symptomatic disease. Screening is the dominant practice in this space, exemplified by cancer screening (e.g., mammography, colonoscopy), and cardiac risk screening (e.g., lipid testing, blood pressure screens). The margins between primary and secondary prevention can at times blur, depending on definitions used for diseases, their risks, and their antecedents.

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  • StarGazer® is the ADC element management system for PG-FlexPlus products. StarGazer is a comprehensive, carrier-class management solution, supporting essential features from all the TMN FCAPS management functions. StarGazer’s comprehensive and highly intuitive graphical user interface (GUI) is fully compatible with the PG-FlexPlus SNMP management interface. StarGazer also provides full access to the native PG-FlexPlus craft port screens and includes an integrated SNMP MIB browser.

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  • A realistic indoor scene is typically populated by several different kinds of furniture objects, but only a few of the many possible spa- tial arrangements of these objects are functional and livable. For example, the front of a television or computer screen should not be blocked, since it is supposed to be visible. Furthermore, most of the objects in the scene should be accessible to human habitants.

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