ABC OF CLINICAL GENETICS - PART 7 pptx

... during the third and fourth months of pregnancy. Affected infants seem to have a high perinatal mortality rate. ABC of Clinical Genetics 72 Box 13.1 Examples of teratogens Drugs • Alcohol • Anticonvulsants phenytoin sodium ... parents acg-14 11/20/01 7: 37 PM Page 73 78 The DNA molecule is fundamental to cell metabolism and cell division and it is also the basis for inherit...

Ngày tải lên: 10/08/2014, 14:22

... Chapter 005. Principles of Clinical Pharmacology (Part 7) Renal Disease Renal excretion of parent drug and metabolites is generally accomplished by ... in the elderly because of altered pharmacokinetics and pharmacodynamics, the frequent use of multidrug regimens, and concomitant disease. For example, use of long half-life benzodiazepines ... of lidocaine is reduce...

Ngày tải lên: 06/07/2014, 08:20

... first-trimester prenatal diagnosis. The thalassaemias are due to a reduced rate of synthesis of - or ␤-globin chains, leading to an imbalance in their production. ␣-thalassaemia is a defect of ␣-globin ... gene. ABC of Clinical Genetics 84 Table 16.5 Notation of mutations and their effects Notation of nucleotide changes 16 57 G→T G to T substitution at nucleotide 16 57...

Ngày tải lên: 10/08/2014, 14:22

... (Clinical Genetics Society, Association of Clinical Cytogeneticists, Clinical Molecular Genetics Society and Association of Genetic Nurses and Counsellors). There are also links to a number of ... population groups. ABC of Clinical Genetics 98 Figure 18.12 Flourescence in situ hybridisation in a female carrier of a Duchenne muscular dystrophy mutation involving deleti...

Ngày tải lên: 10/08/2014, 14:22

... diagnosis 77 prenatal diagnosis 11, 73 7 amniocentesis 75 , 76 chorionic villus sampling 75 , 77 disorder treatment 74 fetal blood and tissue sampling 75 , 77 genetic markers 12 identifying risk 73 –4 indications ... 91 proto-oncogenes 56 7 psychoses 66 7 psychosocial issues, genetic counselling 8–10 pulse-field electrophoresis (PFGE) 93 Index 118 acg-ind 11/20/01 8: 07 PM...

Ngày tải lên: 10/08/2014, 14:22

... results of data analysis). A host of software tools are available for data analysis, each having partic- ular strengths and weaknesses. Because of the rapid de- velopment in all aspects of fMRI-based ... Imaging 99 any data analysis software. In event-related designs, the averaging of the effects of multiple stimulus pre- sentations of a given type is done explicitly in software...

Ngày tải lên: 14/08/2014, 11:20