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

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.
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PMID:Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence? 235 22

Congenital hypothyroidism occurs in 1:4000 newborns. Mass screening for congenital hypothyroidism constitutes a major progress in the prevention of mental retardation. The neonatal screening programme in Poland was established and implemented by the National Research Institute of Mother and Child from the middle of the 70. and reorganised in 1997. Recall examinations in the infants, substitute therapy with l-thyroxine and the follow-up of hypothyroid infants and children are presented.
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PMID:[A model for clinical diagnosis-treatment of the newborn with an abnormal screening test for hypothyroidism and in children with congenital hypothyroidism]. 1122 4

Congenital hypothyroidism is one of the most common diseases in paediatric endocrinology. Thyroid hormones are essential in brain development, which takes place during foetal life and early postnatal life up to the 2nd year of age. The main etiologic factors of congenital hypothyroidism are anomalies of development, function and regulation of the thyroid gland. Clinical signs of thyroid hormone deficiency in infants are non-specific. Early diagnosis is based on newborn screening for congenital hypothyroidism, which was started in Poland in 1977. Treatment within the first days of life with appropriate dosage of thyroxine prevents mental retardation. This paper summarises current knowledge on congenital hypothyroidism in children.
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PMID:[Congenital hypothyroidism]. 1122 3

Galactosemia is an autosomal recessive disease related to deficiency of one of three different enzymes involved in the metabolism of galactose: galactokinase (GALK), galactoso-J-phosphate uridyltransferase (GALT) or UDP-galactose-4-epimerase (GALE). Classic galactosemia is due to GALT deficiency and is the most common. Longitudinal studies have shown that in spite of early diagnosis and early treatment of children with galactosemia detected in the mass screening programme, the results are poor and mental retardation as well as other complications are of similar severity as in children diagnosed clinically without screening. In many investigations it was also proved that some impairments developed already in the prenatal period. Therefore, many countries among them also Poland, stopped mass screening for galactosemia. At present, in Poland the procedure strategy in galactosemic children and their families include: diagnosis of new cases on the basis of clinical symptoms, selective screening in high-risk families, prophylactic lactose-free diet for mothers during pregnancy. Such management can help to prevent clinical manifestations in newborns and prevent death in the early period of life.
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PMID:[Effectiveness of the screening programme for galactosemia. New strategy in Poland]. 1127 4

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.
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PMID:Mobius sequence--a Swedish multidiscipline study. 1199 54

The Healthy Athletes Special Smiles Program provides oral health screening and data collection for athletes with mental retardation who are participating in Special Olympic events. Recently, data regarding international athletes have become available for the first time, allowing a comparison against data collected in the United States. The international athletes from the countries of China, Lebanon, Poland, South Africa, and Turkey were generally younger than those of the United States (mean age 17.4 versus 24.0 years) and were more likely to be males (64.3 versus 54.6%). The international athletes were more likely to have untreated caries (50.1 versus 28.2%), and less likely to have restorations (19.6 versus 62.9%), sealants (1.8 versus 13.5%), fluorosis (3.5 versus 8.8%), signs of gingival disease (27.8 versus 40.1%), or to be edentulous (0.1 versus 3.7%). These relationships persisted after adjustment for sex and age differences between the populations.
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PMID:Special Olympics: the oral health status of U.S. athletes compared with international athletes. 1508 60

Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus was mapped to chromosome 8q22 in Finnish patients, and, recently, mutations in the gene COH1 were reported in patients with Cohen syndrome from Finland and other parts of northern and western Europe. Here, we describe clinical and molecular findings in 20 patients with Cohen syndrome from 12 families, originating from Brazil, Germany, Lebanon, Oman, Poland, and Turkey. All patients were homozygous or compound heterozygous for mutations in COH1. We identified a total of 17 novel mutations, mostly resulting in premature termination codons. The clinical presentation was highly variable. Developmental delay of varying degree, early-onset myopia, joint laxity, and facial dysmorphism were the only features present in all patients; however, retinopathy at school age, microcephaly, and neutropenia are not requisite symptoms of Cohen syndrome. The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.
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PMID:Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 1515 16

The Smith-Lemli-Opitz syndrome (SLOS) is a phenotypically variable metabolic malformation and mental retardation syndrome for which more than 80 mutations in the DHCR7 disease-causing gene have been described. The DHCR7 mutational spectra differ significantly in different areas of Europe, and several common putative founder mutations account for a substantial fraction of all mutations in some ethnic groups. Here we have analysed 47 SLOS patients and describe 14 newly identified mutations in 18 SLOS patients of Ashkenazi Jewish, Austrian, British, German, Italian, Irish, Polish, Portuguese, and Spanish origins. Half of the new mutations are in the transmembrane domains of the protein. In addition, there were two null mutations, one mutation in the 4th cytoplasmic loop, two mutations in the first and last codons, and three mutations in other regions such as the second cytoplasmic loop and the first endoplasmic loop. The analysis included 20 Spanish and 12 Italian SLOS patients and revealed very different mutation spectra in these patients compared to previously described patients from Czechoslovakia, Germany, Poland, and the UK and implicated p.Thr93Met on the J haplotype as the most frequent Mediterranean founder mutation.
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PMID:Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. 1577 24

Iodine prophylaxis in Poland started in 1997 and is based on mandatory iodzation of household salt with 20-40 mg KI/ 1 kg, supplementation of bottle fed infants with iodized formulas with 10,0 microg KI/100 ml, and a voluntary supplementation of pregnant and breast feeding women with additional 100-150 microg of iodine/ day. Last evaluation of efficacy of the iodine prophylaxis performed in 2003 by WHO and International Council for the Control of Iodine Deficiency Disorders allocated Poland within the group of the European countries with sufficient iodine supplementation on the population level. However according to data of the Institute of Mather and Chield in Poland, around 50 % of pregnant women only is additionally supplemented with iodine. Iodine deficiency during pregnancy even as a moderate iodine deficiency, creates a risk of mental retardation, perinatal complication like low and very low births weigt of neonates with increased perinatal mortality rate and late consequences in adult life: metabolic syndrom and type 2 diabetes. Another limitation of the actual model of iodine prophylaxis in Poland, it is too high consumption of natrum chloride (over 5,0 g of household salt/day/ capita). It is around 50% over WHO recommendation. Intensive preventive program against hypertension, type 2 diabetes, atherosclerosis, osteoporosis and some neoplasmatic diseases includes limitation of natrum chloride consumption- as one of the risk factors. Therefore new scope of the National Programme for Elimination of Iodine Deficiency will include: a special prorgramme for the iodization of animal food according to european standard, increased rate of pregnant women additionally supplemented with iodine, strengthening public awarness on necessary increase of milk consumption especially in pregnancy and in children and continouse monitoring system of biologic effects and technologic quality of the model of iodine prophylaxis.
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PMID:[Iodine deficiency in pregnancy--a continuing public health problem]. 1633 75

Tuberous sclerosis (TSC) is an autosomal dominant disorder with the incidence of 1/10 000. The disease is characterized by epilepsy, mental retardation, the occurrence of hamartomas in the various organs and angiomyolipomas in the kidney. According to the literature lung changes identical with lymphangioleiomyomatosis (LAM) occur in over 30% of TSC patients. We report on 6 cases diagnosed in our department in last 14 years. This is the largest group of patients with TSC and LAM collected in one center in Poland. All patient were women. The diagnosis of LAM was confirmed by lung biopsy in 5 patients and established on the basis of clinical presentation, lung function tests and high resolution computerized tomographic scanning (HRCT) of the lung in 1 case. The mean age at diagnosis of TSC was 21 years and at the diagnosis of LAM was 28 years. Typical skin changes, angiomyolipomas of the kidney and calcifications in the brain were documented in all patients, 4 patients had nefrectomy and 4 had at least one episode of sponateous pneumothorax. Epilepsy was diagnosed in 4 of 6 cases and mental retardation in 1 (17%). Abnormal values in pulmonary function tests were common. All but one demonstrated decrease in diffusing capacity (DLCO) below 80% of predicted. 5 out of 6 had FEV1 below 80% of predicted but only 3 had FEV1%VC below 80%. Only 3 patients were given antiestrogen therapy which was medroxyprogesterone in 2 cases and tamoxifen in 1. We are unable to conclude on the efficacy of treatment due to small number of treated patients. We conclude that TSC should be suspected in LAM patients and LAM should be considered in all women with the diagnosis of TSC.
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PMID:[Pulmonary disease in patients with tuberous sclerosis]. 1653 84


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