Mental Accounts
Mostrando 13-23 de 23 artigos, teses e dissertações.
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13. Deletion of chromosome 2 (p11-p13): case report and review.
The case of a young man with del(2) (p11.2p13) is reported. Accounts of previous cases of deletion of the short arm of chromosome 2 are reviewed. Common features include mental retardation, proportional short stature and weight, dysmorphic facial features (a prominent nose, abnormal ears), and abnormal hands. Growth and developmental delay are present during
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14. The demand for ambulatory mental health services from specialty providers.
A two-part model is used to examine the demand for ambulatory mental health services in the specialty sector. In the first equation, the probability of having a mental health visit is estimated. In the second part of the model, variations in levels of use expressed in terms of visits and expenditures are examined in turn, with each of these equations conditi
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15. Localisation of human alpha globin to 16p13.3----pter.
A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. Cytogenetic analysis indicates that the patient is monosomic for 16p13.3----pter and trisomic for 10q26.13----qter. DNA studies sh
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16. Pantomime agnosia.
Visual agnosia is impaired visual recognition not explained by defective visual acuity, visual fields, attention, or general mental ability. Two nonapraxic patients with lesions in the left occipital lobe could imitate pantomimes they could not recognise. Although both patients had a hemianopia, sparing of gesture imitation shows that no visual defect accoun
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17. Congophilic angiopathy of the brain: a clinical and pathological report on two siblings.
Clinical and histological accounts are given of a sister and brother, dying aged 61 and 56 years respectively after illnesses lasting 5-6 years marked by a progressive mental and physical disability. The family history suggested transmission by a dominant gene. The histological findings were of a very severe congophilic angiopathy confined to the brain, spin
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18. Requirement for Yeast RAD26, a Homolog of the Human CSB Gene, in Elongation by RNA Polymerase II
Mutations in the human CSB gene cause Cockayne syndrome (CS). In addition to increased photosensitivity, CS patients suffer from severe developmental abnormalities, including growth retardation and mental retardation. Whereas a deficiency in the preferential repair of UV lesions from the transcribed strand accounts for the increased photosensitivity of CS pa
American Society for Microbiology.
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19. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1,
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20. Making sense of ambiguity: evaluation in internal reliability and face validity of the SF 36 questionnaire in women presenting with menorrhagia.
OBJECTIVE--To determine the face validity and internal reliability of the short form 36 (SF 36) health survey questionnaire in women presenting with menorrhagia. DESIGN--Postal survey of women recruited by their general practitioners followed by interviews of a selected subsample. PATIENTS--348 women who had consulted their general practitioner with excessiv
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21. Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. We studied 13 Portuguese families with AOA and found that the two largest families show linkage to 9p, with LOD
The American Society of Human Genetics.
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22. Validity of the Prodromal Risk Syndrome for First Psychosis: Findings From the North American Prodrome Longitudinal Study
Treatment and prevention studies over the past decade have enrolled patients believed to be at risk for future psychosis. These patients were considered at risk for psychosis by virtue of meeting research criteria derived from retrospective accounts of the psychosis prodrome. This study evaluated the diagnostic validity of the prospective “prodromal risk s
Oxford University Press.
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23. Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21
The American Society of Human Genetics.