Mutilation

Lesch-Nyhan syndrome, an overproduction hyperuricemia characterized by frequent episodes of uric acid hthiasis and a bizarre syndrome of self-mutilation, reflects a defect in hypoxanthme-guanine phosphoribo-syl transferase, an enzyme of purine salvage (Figure 34—4). The accompanying rise in intracellular PRPP results in purine overproduction. Mutations that decrease or abohsh hypoxanthine-guanine phosphoribosyltrans-ferase activity include deletions, frameshift mutations, base substitutions, and aberrant mRNA splicing. 

Mutations in the gene for adenylosuccinate lyase (ASL), inherited as an autosomal recessive disorder in purine metabolism, are associated with severe mental retardation and autistic behavior, but apparently not self-mutilation [10, 11]. This enzyme catalyzes two distinct reactions in the de novo biosynthesis of purines the cleavages of adenylosuccinate (S-Ado) and succinylaminoimidazole carboxamide ribotide (SAICAR), both of which accumulate in plasma, urine and cerebrospinal fluid of affected individuals [12]. Measurements of these metabolites in urine... 

The outlook for patients who are treated at an early age is favorable. Affected babies are normal at birth but almost all will be impaired unless they receive dietary restriction by age 3 months. Mass screening has largely eliminated the untreated PKU phenotype of eczema, poor growth, irritability, musty odor (caused by phenylacetic acid) and tendency to self-mutilation. Progressive motor dysfunction has been described in children with longterm hyperphenylalaninemia. 

Almost every monument which is drawn forth from the shades of antiquity, in proportion as its rude characters and mutilated inscriptions are made out and deciphered, reflects some lustre on the truth of the sacred book. 

In many cells, the capacity for de novo synthesis to supply purines and pyrimidines is insufficient, and the salvage pathway is essential for adequate nucleotide synthesis. In patients with Lesch-Nyhan disease, an enzyme for purine salvage (hypoxanthine guanine phosphoribosyl pyrophosphate transferase, HPRT) is absent. People with this genetic deficiency have CNS deterioration, mental retardation, and spastic cerebral palsy associated with compulsive self-mutilation, Cells in the basal ganglia of the brain (fine motor control) normally have very high HPRT activity. These patients also all have hyperuricemia because purines cannot be salvaged. 

The sponsoring laboratory may have all the fun it wants within its own walls by using nested factorials, components of variance, or anything else that the workers believe will help in the fashioning of a test procedure. At some time the chosen procedure should undergo the kind of mutilation that results from the departures from the specified procedure that occur in other laboratories [Youden (1961b)]. Comment. 

A marked increase in the plasma concentration of urate has been linked to a neurological disorder. Lesch-nyhan syndrome which is characterise by mental retardation and a compulsive form of self-mutilation (Chapter 20). 

Patients with Lesch-Nyhan syndrome experience gout-iike episodes of joint pain and kidney stones as weii as severe neurologic problems, including self-mutilation, spastic movements, and mental retardation. 

There is no perfect system for identification of animals. Tattoos and color codes frequently fade and may need to be redone after 3 to 5 months. Toe clips and ear punches are occasionally obliterated by self-mutilation or mutilation by cage mates. Ear tags and collars fall off and need to be replaced. Cage cards can be lost or destroyed. Whatever system or combination of systems of animal identification are selected by a laboratory, the shortcomings of the selected sys-tem(s) must be recognized, and procedures must be developed to address those shortcomings. 

Opioid Psychic numbing, chemical abuse and/or dependency, self-mutilative behaviors... 

Opioid antagonists have been used with mixed results in adults with PTSD. No clinical trials with these agents have been published in children and adolescents with PTSD. The opioid antagonists such as naltrexone may have limited utility in treating debilitating self-mutilative behavior and perhaps in reducing substance abuse comorbidity in adolescent patients with PTSD. 

I don t believe in astrology. I don t believe that aliens are descending to create crop circles or mutilate cows. I don t believe in a personal God who smites the wicked, or in TV psychics who can read minds or talk to dead Aunt Sally. I don t believe that Moses parted the Red Sea like Charlton Heston in The Ten Commandments. I don t believe that the Earth is hollow, and that inside lives an advanced civilization known as the Agartha. 

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