Acquired genetic abnormalities

Acetaminqihen adducts with protdn, detection in humans, 324/,325,329-334 immumdiemical quantification of adducts, 3163W.319 loxid studies, 329-334 N-Ace transferase, identification of aoetylatorpheiwtype, 198 Acquired genetic abnormalities, 198 Adduct levels, correlation with cardnogenic incidence, 195 Affinity chtDmatogta, antibody requirements, 4... 

The neoplastic transformation begins after a sequence of different acquired genetic mutations in the cellular genome, which include mutations within the gene sequences and different types of chromosomal abnormalities. Chromosomal translocations are one of the most important and interesting types of chromosomal abnormalities associated with neoplasia. 

The porphyrias are a group of disorders due to abnormalities in the pathway of biosynthesis of heme they can be genetic or acquired. They are not prevalent, but it is important to consider them in certain circumstances (eg, in the differential diagnosis of abdominal... 

Third, there is a need to determine the underlying cause since this may be on an inherited basis described as thrombophilia where all family members need to be investigated. Experience and access to a superior haemostasis laboratory is needed. Defects may extend from hyperhomocysteinaemia through sticky platelet syndrome to mutations of factors V and II or reduced levels of the naturally occurring anticoagulants. Treatments differ and more than one abnormality in what is known as genetic coexpression may co-exist. Correspondence acquired lesions may reflect environmental influences. 

To help the reader understand the reasons for this emphasis on the brain, we now turn our attention to two specific disorders of sleep and dreaming that illustrate, respectively, a genetically determined predisposition to experience dreamlike consciousness in waking (narcolepsy) and an acquired tendency to express dream behavior in sleep (REM sleep behavior disorder). The existence of these clear abnormalities emphasizes what we have learned earlier in the chapter about the normal difficulty we have in containing dreaming to consciousness within sleep. 

The impetus for the developmental studies came not from embryology but from clinical observations on the postnatal organism, on metabolic problems frequently seen in newborn children. They occurred in the absence of genetic or morphological abnormalities, were often transient, indicated defects in hepatic functions, and had a higher incidence in premature than in term infants. For these reasons, Dawkins(4) suggested that several important hepatic enzymes are acquired only shortly before or after term, so that the newborn is not immediately ready to take over functions which, like detoxifixations, had been carried out by the maternal liver. 

---