Clinical And Molecular Spectrum Of Patients With 17β-hydroxysteroid Dehydrogenase Type 3 (17-β-hsd3) Deficiency [espectro Clínico E Molecular De Pacientes Com Deficiência De 17β-hidroxiesteroide Desidrogenase Tipo 2 (17-β-hsd3)]

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46,XY karyotype and 17-β-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. © ABEM todos os direitos reservados.568533539Andersson, S., Moghrabi, N., Physiology and molecular genetics of 17beta-hydroxysteroid dehydrogenases (1997) Steroids, 62, pp. 143-147Lukacik, P., Kavanagh, K.L., Oppermann, U., Structure and function of human 17beta-hydroxysteroid dehydrogenases (2006) Mol Cell Endocrinol, 248, pp. 61-71Labrie, F., Luu-The, V., Lin, S.X., Labrie, C., Simard, J., Breton, R., The key role of 17 beta-hydroxysteroid dehydrogenases in sex steroid biology (1997) Steroids, 62, pp. 148-158George, M.M., New, M.I., Tem, S., Sultan, C., Bhangoo, A., The clinical and molecular heterogeneity of 17aHSD3 enzyme deficiency (2010) Horm Res Paediatr, 74, pp. 229-240Boehmer, A.L., Brinkmann, A.O., Sandkuijl, L.A., Halley, D.J., Niermeijer, M.F., Andersson, S., 17beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations (1999) J Clin Endocrinol Metab, 84, pp. 4713-4721Mendonça, B.B., Inacio, M., Arnhold, I.J., Costa, E.M., Bloise, W., Martin, R.M., Male pseudohermaphroditism due to 17beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management (2000) Medicine (Baltimore), 79, pp. 299-309Lee, Y.S., Kirk, J.M., Stanhope, R.G., Johnston, D.I., Harland, S., Auchus, R.J., Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls (2007) Clin Endocrinol (Oxf), 67, pp. 20-28Faienza, M.F., Giordani, L., Delvecchio, M., Cavallo, L., Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency (2008) J Endocrinol Invest, 31, pp. 85-91Andersson, S., Geissler, W.M., Wu, L., Davis, D.L., Grumbach, M.M., New, M.I., Molecular genetics and pathophysiology of 17 betahydroxysteroid dehydrogenase 3 deficiency (1996) J Clin Endocrinol Metab, 81, pp. 130-136Mendonca, B.B., Arnhold, I.J., Bloise, W., Andersson, S., Russell, D.W., Wilson, J.D., 17Beta-hydroxysteroid dehydrogenase 3 deficiency in women (1999) J Clin Endocrinol Metab, 84, pp. 802-804Prehn, C., Möller, G., Adamski, J., Recent advances in 17betahydroxysteroid dehydrogenases (2009) J Steroid Biochem Mol Biol, 114, pp. 72-77Hiort, O., Reinecke, S., Thyen, U., Jurgensen, M., Holterhus, P.M., Schon, D., Puberty in disorders of somatosexual differentiation (2003) J Pediatr Endocrinol Metab, 16 (SUPPL. 2), pp. 297-306Cohen-Kettenis, P.T., Gender change in 46, XY persons with 5alphareductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency (2005) Arch Sex Behav, 34, pp. 399-410Faisal Ahmed, S., Iqbal, A., Hughes, I.A., The testosterone: Androstenedione ratio in male undermasculinization (2000) Clin Endocrinol (Oxf), 53, pp. 697-702Ben Rhouma, B., Belguith, N., Mnif, M.F., Kamoun, T., Charfi, N., Kamoun, M., A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity (2012) J Sex Med, , [Epub ahead of print]Neocleous, V., Sismani, C., Shammas, C., Efstathiou, E., Alexandrou, A., Ioannides, M., Duplication of exons 3-10 of the HSD17B3 gene: A novel type of genetic defect underlying 17g-HSD-3 deficiency (2012) Gene, 499, pp. 250-255Sambrook, J., Fritsch, E.F., Maniatis, T.E., (1989) Molecular cloning, a laboratory manual, , New York: Cold Spring HarborSaez, J.M., De Peretti, E., Morera, A.M., David, M., Bertrand, J., Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo (1971) J Clin Endocrinol Metab, 32, pp. 604-610Saez, J.M., Morera, A.M., De Peretti, E., Bertrand, J., Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization) (1972) J Clin Endocrinol Metab, 34, pp. 598-600Rösler, A., Silverstein, S., Abeliovich, D., A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females (1996) J Clin Endocrinol Metab, 81, pp. 1827-1831Rösler, A., 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population (2006) Pediatr Endocrinol Rev, 3 (SUPPL. 3), pp. 455-461McKeever, B.M., Hawkins, B.K., Geissler, W.M., Wu, L., Sheridan, R.P., Mosley, R.T., Amino acid substitution of arginine 80 in 171-hidroxysteroide dehydrogenase 3 and its effect on NADPH cofator binding and oxidation/reduction kinetics (2002) Biochim Biophys Acta, 1601, pp. 29-37Rosler, A., Belanger, A., Labrie, F., Mechanisms of androgen production in male pseudohermaphroditism due to 17b-hydroxysteroid dehydrogenase deficiency (1992) J Clin Endocrinol Metab, 75, pp. 773-778Culigan, W., Phoenicia and Phoenician colonization (1991) The Cambridge ancienty history, pp. 461-546. , 2nd Ed, In: Boardman J, Edwards IE, Hammond NG, Sollberger E, Walker CB, eds, Cambridge University PressCavalli-Sforza, L.L., Menozzi, P., Piazza, A., (1994) The history and geography of human genes, pp. 217+242-245+260. , Princeton: Princeton University PressGeissler, W.M., Davis, D.L., Wu, L., Bradshaw, K.D., Patel, S., Mendonça, B.B., Male pseudohermaphroditism caused by mutations of testicular 17o-hidroxysteroide dehydrogenase 3 (1994) Nat Genet, 7, pp. 34-39Moghrabi, N., Hughes, I.A., Dunaif, A., Andersson, S., Deleterious missense mutations and silent polymorphism in the human 17b-hydroxysteroid dehydrogenase 3 gene (hsd17b3) (1998) J Clin Endocrinol Metabol, 83 (8), pp. 2855-2860http://www.ensembl.org/Homo_sapiens/Variation/Population?db=core;g=ENSG00000130948;r=9:98997588-99064434;t=ENST00000375263;v=rs2066479;vdb=variation;vf=16374979, Accessed on: Sept 30, 2012Margiotti, K., Kim, E., Pearce, C.L., Spera, E., Novelli, G., Reichardt, J.K., Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men (2002) Prostate, 53, pp. 65-68Sata, F., Kurahashi, N., Ban, S., Moriya, K., Tanaka, K.D., Ishizuka, M., Genetic polymorphisms of 17 G-hydroxysteroid dehydrogenase 3 and the risk of hypospadias (2010) J Sex Med, 7 (8), pp. 2729-2738Mains, L.M., Vakili, M.B., Lacassie, Y., Andersson, S., Lindqvistc, A., Rock, J.A., 17beta hydroxysteroid dehydrogenase 3 deficiency in a male Pseudohermaphrodite (2008) Fertil Steril, 89 (1), pp. 228.e13-228.e17Lee, P.A., Houk, C.P., Faisal, A., Hughes, I.A., International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) Pediatrics, 118, pp. 488-50

7th Drug hypersensitivity meeting: part two

No abstract availabl

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362

Ophthalmic Aspects Of Gapo Syndrome: Case Report And Review

This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed. Copyright © Taylor and Francis Inc.263143147Online Mendelian Inheritance in Man (OMIM), , http://www.ncbi.nlm.nih.gov/Omim/, for GAPO syndrome [MIM 230740]Sandgren, G., GAPO syndrome: A new case (1995) Am J Med Genet, 58, pp. 87-90Epps, D.R., Mendonça, B.B., Olazabal, L.C., Aec, B., Wajntal, A., Poiquilodermia congênita familiar (1977) Cienc Cult, 29 (SUPPL.), p. 740Wajntal, A., Mendonça, B.B., Epps-Quaglia, D., GAPO syndrome (McKusick 23074) - A connective tissue disorder: Report of two affected sibs and on the pathologic findings in the older (1990) Am J Med Genet, 37, pp. 213-223Da Silva, E.O., Dwarfism, alopecia, pseudoanodontia and other anomalies. Report of a case (1984) Braz J Genet, 7, pp. 743-747Gagliardi, A.R.T., Gonzalez, C.H., Pratesi, R., GAPO syndrome: Report of three affected brothers (1984) Am J Med Genet, 19, pp. 217-223Tipton, R.E., Gorlin, R.J., Growth retardation, alopecia, pseudoanodontia, and optic atrophy - The GAPO syndrome (1984) Am J Med Genet, 19, pp. 209-216Manouvrier-Hanu, S., Largilliere, C., Benalioua, M., Farriaux, J.P., Fontaine, G., Brief clinical report: The GAPO syndrome (1987) Am J Med Genet, 26, pp. 683-688Russell, L.J., Hascall, V.C., Imai, Y., DiGiovanna, J., Gahl, W.A., Marini, J.C., The GAPO syndrome: A disorder of glycosaminoglycan metabolism (1992) Am J Hum Genet, 51 (SUPPL.), pp. A107Sayli, B.S., Gül, D., GAPO syndrome in three relatives in a Turkish kindred (1993) Am J Med Genet, 65, pp. 342-345Phadke, S.R., Haldhar, A., Sharma, A.K., Pande, R., Bhatia, V., GAPO syndrome in a child without dermal hyaline deposit (1994) Am J Med Genet, 51, pp. 193-194Moriya, N., Mitsui, T., Shibata, T., Yamaguchi, K., Kanazawa, C., Matsunaga, A., Hayasaka, K., GAPO syndrome: Report on the first case in Japan (1995) Am J Med Genet, 58, pp. 257-261Sayli, B.S., G̈li, D., GAPO syndrome in Türkiye (1996) Am J Med Genet, 65, pp. 252-253Meguid, N.A., Afifi, H.H., Ramzy, M.I., Hindawy, A., Tentamy, S.A., GAPO syndrome: First Egyptian case with ultrastructural changes in the gingiva (1997) Clin Genet, 52, pp. 110-115Mullaney, P.B., Jacquemin, C., Al-Rashed, W., Smith, W., Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma (1997) Arch Ophthalmol, 115, pp. 940-941Bacon, W., Hall, R.K., Roset, J.P., Boukari, A., Tenenbaum, H., Walter, B., GAPO syndrome: A new case of this rare syndrome and review of the relative importance of different phenotypic features in diagnosis (1999) J Craniofac Genet Dev Biol, 19, pp. 189-200Goucha, S., Fazaa, B., Ezzine, N., Jabber, K., Elandoloussi, H., Abid, R., Kamoun, M.R., Le syndrome GAPO (2000) Ann Dermatol Venereol, 127, pp. 501-504Ilker, S.S., Östürk, F., Kurt, E., Temel, M., Gül, D., Sayli, B.S., Ophthalmic findings in GAPO syndrome (1999) Jpn J Ophthalmol, 43 (1), pp. 48-52Orbak, Z., Orbak, R., Ozkan, R., Okten, A., GAPO syndrome: First patients with partially empty sella (2002) J Pediatr Endocinol Metab, 15, pp. 865-868Anderson, T.H., Pindborg, J.J., Et tilfaelde at total "pseudoanodonti" i forbindelse med kranie deformitet, dvaergvaekst og ektodermal dysplasi (1947) Odontol Tilster, 55, pp. 484-493Fuks, A., Resenman, A., Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: A new syndrome (1978) J Dent Child, 45, pp. 155-157Shapira, Y., Yatziv, S., Deckenbaum, R., Growth retardation, alopecia, pseudoanodontia and optic atrophy (1982) Syndrome Identification (Case Report 85), 8 (1), pp. 14-16Dellac, M., Manouvrier-Hanu, S., Rouland, J.F., Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case (1990) J Fr Ophthalmol, 13 (11-12), pp. 547-55

Mental Retardation, Hypotrichosis And Syndactyly: A New Entity ?

We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested.714751Bankier, A., Jensen, F., Kozlowski, K., Rogers, M., Sillence, D.O., (1992) P.O.S.S.U.M. - Pictures of Standard Syndromes and Undiagnosed Malformations, Version 3.5, , Melbourne, Australia, The Murdoch Institute for Research into Birth Defects, Royal Children's HospitalMarcondes, E., Berquó, E., Hegg, R., Colli, A., Zacchi, M.A.S., (1982) I. Crescimento e Desenvolvimento Pubertário em Crianças e Adolescentes Brasileiros I. Metodologia, , São Paulo, Brasil, Editora Brasileira de CiênciasPinheiro, M., Freire-Maia, N., Ectodermal Dysplasias: A clinical classification and a causal review (1994) Am. J. Med. Genet., 53, pp. 153-162Teebi, A.S., Sundareshan, T.S., Hammouri, M.Y., Al-Awadi, S.A., Al-Saleh, Q.A., A new autosomal recessive disorder resembling Weaver Syndrome (1989) Am. J. Med. Genet., 33, pp. 479-482Wiedemann, H.R., (1984) Ectodermal Dysplasyas: A Clinical and Genetics Study, pp. 100-101. , Freiremaia N. and Pinheiro M. (eds). New York, Alan R. Liss IncWiedemann, H.R., Kunze, J., Dibbern, H., (1992) Atlas de Sindromes Clinicas Dismórficas, pp. 458-459. , terceira edição, Editora ManoleWinter, R., Baraitser, M., (1993) L.D.D.B - London Dysmorphology Database, , London, Oxford Medical DatabasesZlotogora, J., Zilberman, Y., Tenenbaum, A., Wexler, M.R., Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: A new syndrome? (1987) J. Med. Genet., 24, pp. 291-29

Prevention Of Mental Retardation: What Do Health Professionals And General Population Know About This Issue? [1]

[No abstract available]84263Emery, J., Watson, E., Rose, P., Andermann, A., A systematic review of the literature exploring the role of primary care in genetic services (1999) Fam Pract, 16, pp. 426-445Henneman, L., Timmermans, D.R.M., Van Der Wal, G., Public experience, knowledge and expectations about medical genetics and the use of genetic information (2004) Community Genet, 7, pp. 33-43Summerton, N., Garrood, P.V.A., The family history in family practice: A questionnaire study (1997) Fam Pract, 14, pp. 285-288Garcias, G.L., Schüler-Faccini, L., The beliefs of mothers in sourthen Brazil regarding risk-factors associated with congenital abnormalities (2004) Genet Mol Biol, 27, pp. 147-15

On Macrocephaly, Epilepsy, Autism, Specific Facial Features, And Mental Retardation [2]

[No abstract available]120 A4564565Fidler, D.J., Bailey, J.N., Smalley, S.L., Macrocephaly in autism and other pervasive developmental disorders (2000) Dev Med Child Neurol, 42, pp. 737-740Gillberg, C., The neurobiology of infantile autism (1988) J Child Psychol Psychiatry, 29, pp. 257-266Minshew, N.J., Indices of neuronal function in autism: Clinical and biologic implications (1991) Pediatrics, 87 (SUPPL.), pp. 774-780Orstavik, K.H., Stromme, P., Ek, J., Torvik, A., Skjeldal, O.H., Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: A new autosomal recessive syndrome? (1997) J Med Genet, 34, pp. 849-85

Prevention Of Mental Retardation: Knowledge And Perception By Health Professionals [prevenção Da Deficiência Mental: Conhecimento E Percepção Dos Profissionais De Saúde]

This article aimed to evaluate the prevention of mental disability in primary healthcare services in Maringá, Paraná, Brazil. The sample consisted of 90 male and female physicians from different fields, namely gynecology and obstetrics, pediatrics, general practice, and family health, as well as 66 male and female nurses. A multiple-choice questionnaire was filled out by the subjects themselves from August to December 2003. Qualitative variables were compared using the qui-square test at 5% significance level. Partial data relating to both the perception and knowledge of health professionals concerning mental disability were as follows: 75% were unable to choose the correct alternative on prevalence; 25% did not know how the genome contributes to etiology; 37% were unaware of prevention for mental disability; 28% were not confident in providing orientation on the teratogenic effect of ethanol; 35% demonstrated insecurity in orienting patients on amniocentesis. The data showed that participants had an unsatisfactory perception of the relevance of mental disability within the overall population disease profile, and that they need more information on the respective genetic and environmental issues.223685690Curry, C.J., Stevenson, R.E., Aughton, D., Byrne, J., Carey, J.C., Cassidy, S., Evaluation of mental retardation: Recommendations of a consensus conference (1997) Am J Med Genet, 72, pp. 468-477Yeargin-Allsopp, M., Murphy, C.C., Cordero, J.F., Decouflé, P., Hallowell, J.G., Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987 (1997) Dev Med Child Neurol, 39, pp. 142-149(2000) Censo Demográfico, , http://www.ibge.gov.br/home/estatistica/populacao/censo2000/populacao/ censo2000_populacao.pdfEnumo, S.R.F., Kerbauy, R.R., Prevenção da deficiência mental: Sua importância e concepções (1994) Bol Psicol, 44, pp. 31-40Gil, A.C., (1999) Métodos e Técnicas de Pesquisa Social, , São Paulo: Editora Atlas;http://dtr2001.saude.gov.br/sas/PORTARIAS/Port2001/GM/GM-822.htm, Portaria n. 822/GM de 06 de junho de 2001. Institui, no âmbito do Sistema Único de Saúde, o Programa Nacional de Triagem NeonatalStevenson, R.E., Massey, P.S., Schroer, R.J., McDermott, S., Richter, B., Preventable fraction of mental retardation: Analysis based on individuals with severe mental retardation (1996) Ment Retard, 34, pp. 182-188Calderón-González, R., Calderón-Sepúlveda, R.E., Prevención del retraso mental (2003) Rev Neurol, 36, pp. 184-194Mental and Neurological Disorders, , http://www.who.int/mediacentre/factsheets/fs265/en/print.html(1996) Norma Operacional Básica Do Sistema Único de Saúde, , Brasil. Brasília: Diário Oficial da União 6 novAndrade, S.M., Soares, D.A., Cordoni Jr., L., (2001) Bases Da Saúde Coletiva, , Londrina: Editora EduelChapman, D.A., Scott, K.G., Mason, C.A., Early risk factors for mental retardation: Role of maternal age and maternal education (2002) Am J Ment Retard, 107, pp. 46-59Jelliffe-Pawlowski, L.L., Shaw, G.M., Nelson, V., Harris, J.A., Risk of mental retardation among children born with birth defects (2003) Arch Pediatr Adolesc Med, 157, pp. 545-550(2001) Manual de Teratogênese, , Sanseverino MTV, Spritzer DT, Schüler-Faccini L, organizadores. Porto Alegre: Editora UFRGS(2003) Pediatria Básica: Pediatria Geral e Neonatal, , Marcondes E, Vaz FAC, Ramos JLA, Okay Y, organizadores. São Paulo: Editora SarvierRim, P.H.H., Magna, L.A., Ramalho, A.S., Genética e Prevenção Da Cegueira: Percepção e Conduta de Oftalmologistas Brasileiros, , http://www.abonet.com.br/abo/664s/painel03.htmBaars, M.J., Scherpbier, A.J., Schuwirth, L.W., Henneman, L., Beemer, F.A., Cobben, J.M., Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation (2005) Genet Med, 7, pp. 295-301Penchaszadeh, V.B., Beiguelman, B., Medical genetic services in Latin America: Report of a meeting of experts (1998) Rev Panam Salud Pública, 3, pp. 409-420Marques-de-Faria, A.P., Ferraz, V.E.F., Acosta, A.X., Brunoni, D., Clinical genetics in developing countries: The case of Brazil (2004) Community Genet, 7, pp. 95-105Vasconcelos, M.M., Retardo mental (2004) J Pediatr, 80 (2 SUPPL.), pp. 71-82. , Rio JTramontina, S., Martins, S., Michalowski, M.B., Ketzer, C.R., Eizirik, M., Biederman, J., Estimated mental retardation and school dropout in a sample of students from state public schools in Porto Alegre, Brazil (2002) Rev Bras Psiquiatr, 24, pp. 177-181Enumo, S.R.F., Trindade, Z.A., Ações de prevenção da deficiência mental, dirigidas a gestantes e recémnascidos, no âmbito da saúde pública da grande Vitória, ES (2002) Psicol USP, 13, pp. 107-132Garcias, L.G., Schüler-Faccini, L., The beliefs of mothers in southern Brazil regarding risk-factors associated with congenital abnormalities (2004) Genet Mol Biol, 27, pp. 147-15