Ectodermal dysplasias (EDs) as defined by Freire-Maia [FreireMaia (1971); Hum Hered 21: 309-312; ; Acta Genet Med Gemellol 26: 121-131] are congenital disorders characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands. Suggestions for a new definition and, consequently, for a new classification of EDs have being proposed lately, mainly with the purpose of connecting clinical knowledge with recent discoveries of gene mutations responsible for about 30% of EDs. The aim of this review was to update the clinical classification of EDs with recent molecular (64 genes and 3 chromosome regions) and clinical data, mainly of EDs of the A group (N ¼ 186), in order to contribute information for the evaluation of the ED definition proposed by Freire-Maia. Our conclusion is that the combination of both procedures-clinical and molecular-only brings advantages for a deeper knowledge of EDs. First, it allows a rapid diagnosis that may become even more precise whenever DNA exams are available. Secondly, the comprehension of the biological mechanisms that cause EDs is needed for the design of efficient prevention and treatment approaches.

The aim of this study was to verify which risk factors for coronary artery disease (CAD) are independently correlated with butyrylcholinesterase (BChE) activity. We studied 88 White individuals (43 males) aged 47.3+/-15.7 years (mean+/-SD; range: 14.0-80.0 years) including 38 with hyperlipidemia, 30 with hypertension and 5 with diabetes mellitus (DM). Simple correlation analysis showed that BChE activity was positively correlated with age, sex, body mass index, hypertension and DM, as well as with triglycerides (TGs), total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B (Apo B). However, after a step-wise multiple regression analysis, the only risk factors for CAD that showed independent correlations with BChE activity were, in descending order of importance, Apo B, TGs and DM. Our findings seem to reinforce suggested associations of BChE activity with lipoprotein synthesis and with hypertension, as well as supporting previous data on the relation of BChE activity with disturbances found in diabetes mellitus.

The relationship between the CHE2 locus of serum cholinesterase (BChE) and adult human weight was studied in a sample of 225 CHE2 C5+ individuals and 225 CHE2 C5- controls matched for sex, height, age and race. With respect to the intensity of the C₅ band staining (scored 1–6), 113 individuals had faint C₅ bands (scores 1–3) and 112 intense C₅ bands (scores 4–6). The individuals with intense CHE2 C5+ phenotype showed a significantly lower mean adult weight (64.66 ± 0.73 kg) when compared to their controls (70.59 ± 0.97 kg) and a significant reduction in weight variance (59.81 and 105.18, respectively). Individuals with faint C₅ bands, although showing a negative correlation between weight and C₅ band intensity, did not differ from their controls in mean weight.

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Total butyrylcholinesterase activity (EC 3.1.1.8) was previously suggested as a marker for metabolic syndrome. The present study examined total butyrylcholinesterase activity and the relative and absolute activities of two butyrylcholinesterase electrophoretic bands (C(4/5) and C(OF) in 99 obese individuals (body mass index > or = 30 kg/m2) presenting the CHE2 C5- phenotype of the CHE2 gene. Anthropometric, hormonal and biochemical variables already associated with metabolic syndrome were also examined. The data from these obese individuals of the CHE2 C5- phenotype show that total butyrylcholinesterase activity and the absolute activities of the C(4/5) and C(OF) electrophoretic bands are associated with metabolic syndrome and with variables related to it. These butyrylcholinesterase activities do not behave as independent risk factors for metabolic syndrome, but can be considered as secondary markers for this syndrome in obese individuals with the CHE2 C5- phenotype.

The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including