Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Art and Medicine, in some occasions have singular contact points. An example of this is the life of the North American writer Pearl S. Buck, a Litterature Nobel Prize winner in 1938, and her relation with phenylketonuria and mental retardation. The present paper is a biographical sketch of this brilliant writer, whose only daughter had phenylketonuria, an inborn error of metabolism of low frequency. If this disease is not treated, it may cause mental retardation. At the same time, we point out some of the highlights of the discovery of this disorder in Norway in 1934, and the description of its first treatment in 1953. At the present time, the mental retardation that this disease causes, can be prevented by means of the neonatal screening.
 ...
PMID:[Pearl S. Buck, Literature Nobel Price, and phenylketonuria: a moving relationship]. 1192 32

Knowledge of the human genome has opened the genomic era. The genome instability, its causes and the possible consequences especially about fertility start to be understood. This instability can be observed on chromosome structure but also on genes. Different chromosomes rearrangements involved in infertility including translocations and Y chromosome deletions are described. The Y chromosome is a model of instability, and this instability is the source of its evolution. All those rearrangements are the results of illegitimate recombinations between homologous sequences. On genes we find punctual and dynamic mutations, polymorphisms and epigenetic abnormalities. They all are the results of ADN replication mistakes not corrected by the cellular machine. This machinery is the guardian of the genome integrity and in case of abnormality the programmed cellular death is induced. The knowledge of all these instability mechanisms is essential to appreciate the risk for the offspring after intracytoplasmic sperm injection. Indeed we go round physiological barriers without a complete understanding of the mechanisms involved. Thus, this is an important challenge for research teams but also for all assisted reproduction centers, dealing with ART. Genome is unstable - the very basis of its evolution. But this is also the cause of mistakes with pathological consequences like infertility and mental retardation.
 ...
PMID:[Genomic instability and male infertility]. 1558 77

The meaning of articles on the main security measures concerned with placing the convict in a closed psychiatric unit is studied. Articles 93 & 94 section 1 of the penal code limit their application only as final measures--the ultima ratio. Art. 93 of the penal code pertains to the perpetrator of illegal actions in connection to their psychiatric illness, mental retardation, alcohol or other related substance addiction, along with a risk of the crime being committed once again, only when it will prevent the person from repeating the crime. The issues that need be considered are the following: psychic state of the perpetrator along with prediction of the risk of him repeating the act, but the liability evaluation and the degree of probability do not play any vital role. This is probably due to the fact that the measure described in art. 96 of the penal code has a limited time span (it cannot be any shorter than 3 months and longer than 2 years) and what is more; it can be applied instead of the punishment. Art. 94 section 1 of the penal code requires very precise evaluation of the risk of repetition in each case of a non-liable perpetrator guilty of conducting crime of serious social damage. This measure is not limited in time span, because it depends on the psychic state of the person under its influence. Henceforth it is considered as more restrictive.
 ...
PMID:[Ultima ratio of the applied security measures in placing perpetrators in a psychiatric hospital]. 1706 37