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 neurological findings in 41 HIV-seropositive children are described. 23 children were symptomatic, eight seropositive but without symptoms and 10 seropositive children less than 15 months of age had no other evidence of immunodeficiency. Acquired microcephaly, developmental regression and progressive motor deterioration indicated HIV encephalopathy, as did developmental delay, mental retardation, cerebellar symptoms and behavioural changes. Three children with progressive encephalopathy improved after treatment with azidothymidine (AZT). In eight children treated with prophylactic intravenous immunoglobulin therapy (IVIG) and seven treated with both IVIG and AZT, no mental deterioration has been observed since the beginning of therapy. One child with advanced encephalopathy and severe pyramidal tract involvement did not improve.
 ...
PMID:Central nervous system involvement of children with HIV infection. 186 79

Various studies have reported rates of human immunodeficiency virus (HIV) transmission from mother to child of 13-40%. Vertical transmission occurs in utero, during delivery, or, in a small number of cases, through breast milk. Whether mothers at various stages of HIV infection experience different rates of transmission remains unknown. Maternal antibodies cross the placenta and are present from birth up to 18 months of age. The offspring of HIV-positive mothers tend to be low birthweight, under 37 weeks' gestation, and at high risk of perinatal mortality. It is likely, however, that this profile is indicative of the low socioeconomic status of most women with HIV rather than a result of infection. Also emerging is a psychosocial profile of the HIV child. These children are isolated, neglected, battered, frequently abandoned, and exhibit various degrees of mental retardation. Also common are delayed psychomotor development, loss of developmental milestones, limited attention span, poor language development, and abnormal reflexes. These features result from the interaction of low socioeconomic status, a lack of psychosocial stimulation, nutritional deficiencies, and central nervous system infections. Since HIV-infected children tend to be the offspring of drug addicts, bisexuals, and prostitutes, they are not awarded the same compassion as children afflicted with other terminal illnesses. Moreover, these children are generally neglected by groups formed to provide support to AIDS patients. Thus, it is up to the general public, the mass media, and the health care system to advocate for the needs of these neglected children.
 ...
PMID:HIV infection in children. 193 94

The majority of children with symptomatic HIV infection present with a variety of neurodevelopmental impairments, including mental retardation and motor abnormalities. Their clinical courses vary widely, with some infants showing progressive deterioration during the first year of life whereas some children follow a static course until adolescence. Rehabilitative services must be established to meet the complex needs of this growing population of children with developmental disabilities.
 ...
PMID:Developmental problems in children with HIV infection. 247 8

Segregation, based on fear of liability, is being practiced regarding persons with HIV infection. The story is told of 16-year-old Chris, who has mental retardation and a positive blood test for HIV infection. He lost his foster care placement, underwent a lengthy hospital admission, and had a long and complicated process for resolution of his program plans. Also involved were breach of consent, violation of confidentiality, and discrimination. Policy concerns about decision-making in the child welfare system regarding persons with HIV infection were discussed.
 ...
PMID:The segregation of an adolescent in foster care who is HIV seropositive and developmentally disabled. 258 14

Hepatic transplantation is the only therapeutic choice for end-stage pediatric liver diseases. The survival improvement, registered in the last few years is mainly due to the employment of cyclosporine in therapy, but also to new and sophisticated surgical techniques and immunosuppressive drugs. The indications in children are: biliary atresia after unsuccessful Kasai procedure, paucity of intrahepatic bile ducts (of syndromic and not syndromic type), some metabolic diseases (alfa1 antitrypsine deficiency, hereditary tyrosinemia), post infective cirrhosis, acute fulminant hepatic failure, hepatic malignancies. Absolute contraindications include severe systemic illness, severe cardiac or kidney failure, thrombosis or abnormalities of caval and portal veins, systemic sepsis, HIV infection. Other drawbacks are mental deficiency and the inability of family to care for the child and follow therapy after discharge. Relative contraindications are: HBsAg positivity, HIV positivity without infection, malnutrition. Finally the scarcity of donors of liver of adequate size is an important limitation for transplant especially in childhood.
 ...
PMID:[Liver transplant in children. I]. 269 3

Infection with the AIDS virus itself (HIV, HTLV-III, LAV, ARV) is associated with a full spectrum of neurological disorders. The application of diagnostic studies for HTLV-III infection has demonstrated that these neurologic disorders can be the first manifestation of AIDS or occur in the absence of AIDS. The most common conditions associated with HTLV-III infection alone are a subacute encephalopathy (AIDS dementia) and peripheral neuropathy; however, vacuolar myelopathy and both acute and chronic aseptic meningitis are also common. Congenital (or neonatal) transmission of the virus can result in a mental retardation syndrome of delayed onset. The AIDS virus is neurotropic as well as targeting T-helper lymphocytes. The virus has been readily identified in neural tissues and cerebrospinal fluid, including instances in which other central nervous system infections, such as toxoplasmosis, coexist. Hence, recognition of an appropriate syndrome, neurodiagnostic studies, and exclusion (or treatment) of other infections, as well as evidence for HTLV-III infection are required for diagnosis. The development of successful therapy will require agents which cross the blood-brain barrier.
 ...
PMID:Neurology of AIDS virus infection: a clinical classification. 282 50

Screening programs for the acquired immunodeficiency syndrome have been proposed to several categories of persons at increased risk for AIDS. On the other hand, it is still controversial if people with mental retardation may be candidates for mandatory screening. In our opinion, the reduced competence and diminished autonomy that characterize institutionalized mentally retarded subjects, it might be appropriate those who are uninfected from possible human immunodeficiency virus infection.
 ...
PMID:[The problem of screening for HIV infection in mentally retarded institutionalized subjects]. 322 99

Administrators of residential facilities for persons with mental retardation must take a proactive stance in determining the prevalence of HIV in the population. Administrators of the Stockley Center, a 345-bed ICF/MR, approached the issue utilizing a double-blinded seroprevalence study. Their aim was to use results from this testing to identify settings of high to moderate prevalence for purposes of reducing the further spread of infection.
 ...
PMID:Determining the prevalence of human immunodeficiency virus (HIV) within a residential facility for persons with mental retardation. 846 Nov 29

The human fragile-X syndrome, a major cause of inherited mental retardation, is associated with expansion of the trinucleotide repeat GGC:GCC. Repetitive sequences in DNA are subject to slippage during catalysis by DNA polymerases. We characterized the extent of slippage of synthetic GGC:GCC repeats by various DNA polymerases: Taq DNA polymerase, Klenow fragment of DNA polymerase I, DNA Sequence, DNA polymerase-alpha and polymerase-beta, as well as HIV reverse transcriptase. All of these enzymes were found to expand GGC:GCC repeats, with the most extensive expansion exhibited by Taq DNA polymerase. Starting with a template and primer, each 15 nucleotides (nt) in length, the product of one round of synthesis by Taq polymerase is as long as 250 nt. Sequence analysis of cloned DNA fragments expanded by Taq polymerase indicates that expansion involves multiple triplet additions and that it is asymmetric. The asymmetric distribution of terminal nucleotides in the expanded product is consistent with active expansion of the GCC strand and passive additions onto the GGC strand. The preferential elongation and expansion of the GCC strand was confirmed in studies utilizing longer repeats within a single-stranded M-13 template.
 ...
PMID:In vitro expansion of GGC:GCC repeats: identification of the preferred strand of expansion. 875 19

Fragile X syndrome is a frequent cause of mental retardation resulting from the absence of FMRP, the protein encoded by the FMR1 gene. FMRP is an RNA-binding protein of unknown function which is associated with ribosomes. To gain insight into FMRP function, we performed immunolocalization analysis of FMRP truncation and fusion constructs which revealed a nuclear localization signal (NLS) in the amino terminus of FMRP as well as a nuclear export signal (NES) encoded by exon 14. A 17 amino acid peptide containing the FMRP NES, which closely resembles the NES motifs recently described for HIV-1 Rev and PKI, is sufficient to direct nuclear export of a microinjected protein conjugate. Sucrose gradient analysis shows that FMRP ribosome association is RNA-dependent and FMRP is found in ribonucleoprotein (RNP) particles following EDTA treatment. These data are consistent with nascent FMRP entering the nucleus to assemble into mRNP particles prior to export back into the cytoplasm and suggests that fragile X syndrome may result from altered translation of transcripts which normally bind to FMRP.
 ...
PMID:The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. 884 25


1 2 3 Next >>