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1.
Am J Med Genet A ; 152A(1): 32-41, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20014122

RESUMO

Landmark-based morphometric analysis holds promise for quantitative assessment of craniofacial dysmorphology. We describe an application of facial shape analysis to characterize the facial anomalies associated with fetal alcohol syndrome (FAS) in a mixed ancestry population. Generalized Procrustes analysis, regression and discriminant function analysis were applied to stereo-photogrammetrically derived 3D coordinates of landmarks taken from 34 subjects (n = 17 FAS and n = 17 normal controls). Four shape analyses were carried out, namely a comparison of the FAS and control facial shapes at age 5, and one at age 12; a comparison of the FAS facial shapes at ages 5 and 12; and a comparison of control facial shapes at ages 5 and 12. The first two analyses showed that the FAS face is characterized by small palpebral fissures, a thin upper lip, and midfacial hypoplasia. Classification of subjects as having FAS using leave-one-out cross-validation showed that the 5-year-old group could be classified with 95.46% accuracy and the 12-year-olds with 80.13% accuracy. The third and fourth analyses revealed that the differences in facial shape between FAS individuals in different age groups were more pronounced than for control individuals, supporting the notion that FAS facial anomalies diminish with age. Geometric morphometric analysis of stereo-photogrammetrically derived 3D facial landmarks allows visualization of the facial anomalies associated with FAS, as well as classification of facial shapes.


Assuntos
Fácies , Transtornos do Espectro Alcoólico Fetal/patologia , Antropometria , Criança , Pré-Escolar , Feminino , Humanos , Fenótipo , Gravidez
2.
AIDS Res Ther ; 3: 11, 2006 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-16603057

RESUMO

BACKGROUND: Efavirenz is the preferred non-nucleoside reverse transcriptase inhibitor for first-line antiretroviral treatment in many countries. For women of childbearing potential, advantages of efavirenz are balanced by concerns that it is teratogenic. This paper reviews evidence of efavirenz teratogenicity and considers implications in common clinical scenarios. FINDINGS: Concerns of efavirenz-induced fetal effects stem from animal studies, although the predictive value of animal data for humans is unknown. Four retrospective cases of central nervous system birth defects in infants with first trimester exposure to efavirenz have been interpreted as being consistent with animal data. In a prospective pregnancy registry, which is subject to fewer potential biases, no increase was detected in overall risk of birth defects following exposure to efavirenz in the first-trimester. DISCUSSION: For women planning a pregnancy or not using contraception, efavirenz should be avoided if alternatives are available. According to WHO guidelines for resource-constrained settings, benefits of efavirenz are likely to outweigh risks for women using contraception. Women who become pregnant while receiving efavirenz often consider drug substitution or temporarily suspending treatment. Both options have substantial risks for maternal and fetal health which, we argue, appear unjustified after the critical period of organogenesis (3-8 weeks post-conception). Efavirenz-based triple regimens, initiated after the first trimester of pregnancy and discontinued after childbirth, are potentially an important alternative for reducing mother-to-child transmission in pregnant women who do not yet require antiretroviral treatment. CONCLUSION: Current recommendations for care for women who become pregnant while receiving efavirenz may need to be re-considered, particularly in settings with limited alternative drugs and laboratory monitoring. With current data limitations, additional adequately powered prospective studies are needed.

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