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2.
Open Complement Med J ; 1: 25-34, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-23227136

RESUMO

This study is a systematic review of mind-body interventions that used immune outcomes in order to: 1) characterize mind-body medicine studies that assessed immune outcomes, 2) evaluate the quality of mind-body medicine studies measuring immune system effects, and 3) systematically evaluate the evidence for mind-body interventions effect on immune system outcomes using existing formal tools. 111 studies with 4,777 subjects were reviewed. The three largest intervention type categories were Relaxation Training (n=25), Cognitive Based Stress Management (n=22), and Hypnosis (n=21). Half the studies were conducted with healthy subjects (n=51). HIV (n=18), cancer (n=13) and allergies (n=7) were the most prominent conditions examined in the studies comprising of non-healthy subjects. Natural killer cell and CD4 T lymphocyte measures were the most commonly studied outcomes. Most outcome and modality categories had limited or inconclusive evidence. Relaxation training had the strongest scientific evidence of a mind-body medicine affecting immune outcomes. Immunoglobulin A had the strongest scientific evidence for positive effects from mind-body medicine. Issues for mind-body medicine studies with immune outcomes are discussed and recommendations are made to help improve future clinical trials.

3.
Am J Med Genet A ; 140(16): 1711-8, 2006 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-16835935

RESUMO

Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We identified a patient with bilateral anophthalmia and absence of the optic nerves, chiasm and tracts, as well as pituitary gland hypoplasia and ear anomalies with a de novo apparently balanced chromosomal translocation, 46,XY,t(3;14)(q28;q23.2). Translocation breakpoint analysis using FISH and high-resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. Three other patients with interstitial deletions involving 14q22-23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22-23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. BMP4 haploinsufficiency is predicted to contribute to the ocular phenotype on the basis of its expression pattern and observed murine mutant phenotypes. In addition, deletion of BMP4 and SIX6 is likely to contribute to the abnormal pituitary development, and SIX1 deletion may contribute to the ear and other craniofacial features. This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22-23 deletion patients.


Assuntos
Anormalidades Múltiplas/genética , Anoftalmia/genética , Deleção Cromossômica , Cromossomos Humanos Par 14 , Orelha/anormalidades , Hipófise/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Pré-Escolar , Bandeamento Cromossômico , Quebra Cromossômica , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Hibridização de Ácido Nucleico , Mapeamento Físico do Cromossomo , Radiografia , Síndrome
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