Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Weak support for linkage of schizophrenia to proximal Xq has previously been reported. In addition, an increased prevalence of thyroid disorder has been noted in families of individuals with schizophrenia. Recently, a gene mapped to Xq13 termed HOPA has been found to be associated with mental retardation, hypothyroidism, and depression and to function as a coactivator for the thyroid receptor. We therefore examined the HOPA gene in a group of 111 probands from a larger cohort of multiplex families with schizophrenia, several of whom (n = 53) also had a family history of hypothyroidism. Four males and two females were found with an alteration in exon 42 of the HOPA gene compared with 8/492 males and 18/471 females (942 X chromosomes) compared with consecutively screened newborns (chi(2) = 3.92, P < 0.05). However, when available family members of each of the probands with an exon 42 variation were subsequently screened, the mutation did not segregate with schizophrenia in three of five families, although all 6 probands with an exon 42 variation did have hypothyroidism in either themselves (n = 3) or their mothers (n = 3) (P < 0.008). These findings replicate prior findings demonstrating an association between HOPA polymorphisms and hypothyroidism. In addition, the increased frequency of HOPA variants in this population may also provide a genetic basis for the familial association of thyroid disease and schizophrenia.
 ...
PMID:Investigation of a candidate gene for schizophrenia on Xq13 previously associated with mental retardation and hypothyroidism. 1089 21

All children with thyroid disorder attending the endocrinology clinic of the Ethio-Swedish Children's Hospital (ESCH), Addis Ababa in 1996 were included in this study. One hundred twenty six new patients from all over the country were referred to the clinic for thyroid disorder and 31 patients (24%) were found to have hypothyroidism. Seventeen (13%) had congenital hypothyroidism while the rest 14(11.5%) were categorised to have juvenile hypothyroidism. Thyroid dysgenesis is the commonest cause of permanent hypothyroidism. Mental retardation was the accompanied manifestation in all the cases with thyroid agenesis except in two children. Mental retardation being the commonest permanent sequelae in aplastic hypothyroidism is of utmost concern and its prevention is desirable, therefore high index of clinical suspicion with a close observation for early feature of congenital hypothyroidism is warranted for early intervention and in the future nation wide screening for hypothyroidism is recommended.
 ...
PMID:Pattern of hypothyroid disorders in Ethio-Swedish Children's Hospital (ESCH). 1224 May 62

This case study, of a woman with Down syndrome and dementia of the Alzheimer's type (DAT), follows the course of her decline over an 11-year period until death at age 57. Detailed neuropathological findings are also presented. This case illustrates features of premature aging that are typically associated with Down syndrome, and the progressive changes in memory and cognition that are usually associated with DAT. Although the subject's cardiovascular condition and thyroid disorder were treated, they may have contributed to the decline of her memory. This case shows the difficulty in diagnosing dementia in an individual with mental retardation who suffered comorbid episodes of depression and psychosis.
 ...
PMID:Dementia of the Alzheimer's type and accelerated aging in Down syndrome. 1581 18

Thyroid disorders are quite a common health problem in pregnant women, thus adequate treatment in this period is very important in order to decrease maternal and fetal morbidity. The prevalence of hyperthyroidism is estimated to be present in approximately 0.2-0.4% of all pregnancies and the most common is Graves disease. Untreated hyperthyroidism is connected with disturbed fertilisation, recurrent miscarriages, preeclampsia development, hypotrophy of the fetus, and haemorrhage in the postpartum period. Hypothyroidism is found in pregnant women in 0.3-0.7% of all cases. Uncontrolled hypothyroidism in pregnancy can lead to preterm birth, low birth weight and mental retardation. The goal of the treatment of both hypo- and hyperthyroidism is to reach a stable euthyroid state by applying thyroid hormones or antithyroid drugs, respectively. It seems that well-controlled management of thyroid diseases does not pose any problem for pregnancy. However, the most important is to avoid any neurological abnormalities in the fetus in hyperthyroid women resulting from antithyroid drugs exposure. Moreover, it is also crucial to abstain from subclinical hypothyroidism and hypothyroxinaemia in the mother and its effect on the fetus's development which merits exact screening and intense monitoring. In this paper we described the complex pharmacology of the drugs that are used in pregnant women suffering from thyroid disorders, considering the clinical application, practical recommendation, and side effects in pregnancy and lactation. This systematic analysis could contribute some pharmacological knowledge which will be helpful in the clinical management of thyroid disorders during pregnancy.
 ...
PMID:The optimal treatment of thyroid gland function disturbances during pregnancy. 2134 19