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)

The age of menarche, characteristics of the menstrual cycle, sexual activity and contraception of 15 Danish Down syndrome adolescents and 33 controls matched for age and residence were compared. The girls were born between January 1965 and December 1970 in Aarhus county, averaging 18.2 and 18.1 years old. The cohort of 15 Downs syndrome females, ascertained from Danish mental retardation and cytogenetic registers, was considered complete. Controls were randomly selected from medical clinic lists. The mean age of menarche was 13.6 (SD 20.9 months) for Downs patients, and 13.5 (SD 13.8) for controls. 86.7 and 87.9% of the groups had menstruated regularly since. Mean duration of bleeding was 5.5 and 5.4 days; mean length of the cycle was 28.3 and 28.6 days. 3 of the Downs patients were incapable of managing menstrual hygiene. No Downs syndrome subjects had, according to the interviewed person, with certainty, had sexual intercourse. 77.2% of the controls had been sexually active, according to their own statements. 3 of the Downs subjects used oral contraception, and 1 Depo-Provera, compared to reports of use of pills by 19, diaphragm by 3 and condom by 16 controls. This is a high incidence of regular ovulation among Downs syndrome females compared to some reports in the literature.
 ...
PMID:Menarche, menstruation, sexual relations and contraception of adolescent females with Down syndrome. 296 86

The treatment of sex offenders with mental retardation is receiving increased attention. Such offenders who are experiencing stress are more likely to use coping strategies effectively if they have a large network of nurturing environmental contacts and are, therefore, less insulated from their environment. In the present study an assessment tool--the ECO-MAP--was used that graphically illustrates the degree of integration of an offender. This instrument has proven to be extremely useful as a clinical aid in the intervention-planning process, the contracting phase of intervention, and in the evaluation of outcomes.
 ...
PMID:Diagrammatic assessment of ecological integration of sex offenders with mental retardation in community residential facilities. 802 99

The tubal sterilizations of Minnie and Mary Alice Relf, ages 14 and 12, on June 14, 1973, had been arranged by the Montgomery County Community Action Agency which is the largest organized provider of family planning services in Montgomery. In their class action suit the parents have charged that the operations were performed without their knowledge or consent. The mother, who is illiterate, claims that she approved "some shots" for her daughters. Both had been receiving Depo-Provera an injectable contraceptive drug, which has been withdrawn from use by the agency following Senate hearings conducted by the Health Subcommittee of the Senate Labor and Public Welfare Committee. The agency response is that the operation has been explained to the mother, that she understood the nature of the procedure, and consented to it by placing an "X" on the consent form. The 14-year-old daughter also gave her consent, and this is in accordance with Alabama law which allows competent persons over the age of 14 to consent to their own medical care. In separate letters to Dr. Alan F. Guttmacher, President of the Planned Parenthood A ssociation, and the 4 women members of the Black Caucus, Barbara Jordan, Yvonne Burke, Shirley Chisholm, and Cardiss Collins, urger Caspar Weinberber, secretary of the Department of Health, Education, and Welfare, to delay the July 5 deadline for guidelines in order to give the agency an opportunity to consult with leaders in the fields of medicine, law, psychiatry, family planning, and mental retardation. They raised the key issue of the problem of making family planning information and services available to all those who want and need them while assuring that the programs are totally voluntary. The women also favored a national program with uniform federal guidelines for the state delegated Medicaid programs as well as for the Office of Economic Opportunity and the Department of Health, Education, and Welfare.
 ...
PMID:Sterilization of minors leads to controversy. 1225 56

The doublecortin-like (DCX) domains serve as protein-interaction platforms. DCX tandem domains appear in the product of the X-linked doublecortin (DCX) gene, in retinitis pigmentosa-1 (RP1), as well as in other gene products. Mutations in the human DCX gene are associated with abnormal neuronal migration, epilepsy, and mental retardation; mutations in RP1 are associated with a form of inherited blindness, while DCDC2 has been associated with dyslectic reading disabilities. Motivated by the possible importance of this gene family, a thorough analysis to detect all family members in the mouse was conducted. The DCX-repeat gene superfamily is composed of eleven paralogs, and we cloned the DCX domains from nine different genes. Our study questioned which functions attributed to the DCX domain, are conserved among the different members. Our results suggest that the proteins with the DCX-domain have conserved and unique roles in microtubule regulation and signal transduction. All the tested proteins stimulated microtubule assembly in vitro. Proteins with tandem repeats stabilized the microtubule cytoskeleton in transfected cells, while those with single repeats localized to actin-rich subcellular structures, or the nucleus. All tested proteins interacted with components of the JNK/MAP-kinase pathway, while only a subset interacted with Neurabin 2, and a nonoverlapping group demonstrated actin association. The sub-specialization of some members due to confined intracellular localization, and protein interactions may explain the success of this superfamily.
 ...
PMID:Common and divergent roles for members of the mouse DCX superfamily. 1662 14

Mutations of the MAPT (microtubule-associated protein tau) gene are associated with FTLD (frontotemporal lobar degeneration) with tau pathology. These mutations result in a decreased ability of tau to bind MTs (microtubules), an increased production of tau with four MT-binding repeats or enhanced tau aggregation. In two FTLD patients, we recently described CNVs (copy number variations) affecting the MAPT gene, consisting of a partial deletion and a complete duplication of the gene. The partial deletion resulted in a truncated protein lacking the first MT-binding domain, which had a dramatic decrease in the binding to MTs but acquired the ability to bind MAP (microtubule-associated protein) 1-B. In this case, tauopathy probably resulted from both a loss of normal function and a gain of function by which truncated tau would sequester another MAP. In the other FTLD patient, the complete duplication might result in the overexpression of tau, which in the mouse model induces axonopathy and tau aggregates reminiscent of FTLD-tau pathology. Interestingly, the same rearrangement was also described in several children with mental retardation, autism spectrum disorders and dysmorphic features, as well as in a schizophrenic patient. Finally, complete deletions of the MAPT gene have been associated with mental retardation, hypotonia and facial dysmorphism.
 ...
PMID:Copy number variations involving the microtubule-associated protein tau in human diseases. 2281 14