Uso da fish em mucosa oral para investigação de mosaicismo com linhagem 45,x: estudo com homens saudáveis e pacientes com distúrbios da diferenciação do sexo

FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOObjective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Subjects and methods: Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. Results: The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Conclusions: Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium. © ABE&M todos os direitos reservados.To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Subjects and methods: Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. Results: The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Conclusions: Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium584328334FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO2011/50189-7Verificar se a hibridização in situ por fluorescência (FISH) em células de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X em pacientes 46,XY. Sujeitos e métodos: Amostra de 19 jovens saudáveis 46,XY e cinco pacientes com distúrbios da diferenciação do sexo (DDS), quatro 45,X/46,XY e um 46,XY. FISH com sondas específicas para X e Y em núcleos interfásicos de linfócitos e mucosa oral para investigar aproporção de núcleos contendo apenas o sinal do cromossomo X. Resultados: A frequência de núcleos contendo apenas o sinal do X nos dois tecidos dos homens saudáveis não diferiu (p =0,69). Em todos os pacientes com DDS essa frequência foi significativamente maior, e tambémnão houve diferença entre os dois tecidos (p = 0,38). Conclusões: A investigação de mosaicismo com linhagem 45,X em pacientes com DDS 46,XY ou esterilidade pode ser feita por FISHdiretamente em células de mucosa ora

Desequilíbrios genômicos na cardiopatia congênita sindrômica

To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300. kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993. kb duplication in 15q21.1 and 706. kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. © 2017 Sociedade Brasileira de Pediatria.To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screen935497507FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO2008/10596-0, 2008/50421-4, 2009/08756-1, 2011/23794-7149600/2010-0, 471422/2011-8; 471422/2011-8; 2011/23794-7Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Foram avaliados por microarray cromossômico (CMA) 78 pacientes neg

Suicide Pact

Objective: To determine the time of diagnosis of typical orofacial clefts in different Brazilian regions and its influence on age at surgical correction. Method: This was a prospective, descriptive, cross-sectional study conducted in medical centers in the Southeast, South, and Northeast of Brazil. Trained speech therapists and geneticists interviewed the parents of affected children using a previously validated questionnaire. Epi-Info and SPSS were used for data analysis. Significance level was set at 5% (p ≤ 0.05). Results: The sample consisted of 215 interviews conducted in the following regions: 21.9% (47) in the Southeast, 51.1% (110) in the South, and 27% (58) in the Northeast. Monthly family income was higher in the Southeast (p ≤ 0.05). Cleft lip and palate were found in 61.4% (132) of cases, cleft palate in 20.9% (45), and cleft lip in 17.7% (38). Diagnosis occurred in the maternity ward in 75.3% (162) of cases, during the prenatal period in 14% (30), and after hospital discharge in 10.2% (22). The Southeast had a higher frequency of prenatal diagnosis (27.7%), possibly related to greater purchasing power in this region and greater availability of prenatal investigation. Of all cases diagnosed in the maternity ward, 74.4% occurred in the Northeast. However, no significant difference was found when comparing time of diagnosis, region, and age at first surgery. Conclusion: Considering that diagnosis is more common in the maternity ward, local health care teams should be trained in order to effectively improve the initial care of these patients. Although time of diagnosis did not affect age at surgery, it favors the planning of neonatal care and treatment of affected infants. Copyright © 2011 by Sociedade Brasileira de Pediatria.873225230Wyszynski, D.F., (2002) Cleft Lip and Palate: From Origin to Treatment, , New York: Oxford University PressMoore, K.L., Persaud, T.V., The Pharyngeal (Branchial) Apparatus (1998) The Developing Human Clinically Oriented Embryology, pp. 215-256. , Moore KL, Persaud TV. 6th ed. Philadelphia, Pa: WB SaundersMossey, P.A., Little, J., Epidemiology of oral clefts: An international perspective (2002) Cleft Lip and Palate: from Origin to Treatment, pp. 127-158. , Wyszynski DF, editor. New York: Oxford University PressGlobal strategies to reduce the healthcare burden of craniofacial anomalies (2002) Report of WHO Meetings on International Collaborative Research on Craniofacial Anomalies, , Word Health Organization. Geneva: WHOStoll, C., Alembik, Y., Dott, B., Roth, M.P., Associated malformations in cases with oral clefts (2000) Cleft Palate-Craniofacial Journal, 37 (1), pp. 41-47Marazita, M.L., Mooney, M.P., Current concepts in the embryology and genetics of cleft lip and cleft palate (2004) Clin Plast Surg, 31, pp. 125-140Cohen Jr., M.M., Gorlin, R.J., Fraser, F.C., Craniofacial Disorders (1997) Emery and Rimoin's Principles and Practice of Medical Genetics, pp. 1121-1148. , Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. New York: Churchill LivingstoneShprintzen, R.J., Siegel-Sadewitz, V.L., Amato, J., Goldberg, R.B., Anomalies associated with cleft lip, cleft palate, or both (1985) American Journal of Medical Genetics, 20 (4), pp. 585-595. , DOI 10.1002/ajmg.1320200404Offerdal, K., Jebens, N., Syvertsen, T., Blaas, H.G., Johansen, O.J., Eik-Nes, S.H., Prenatal ultrasound detection of facial clefts: A prospective study of 49,314 deliveries in a non-selected population in Norway (2008) Ultrasound Obstet Gynecol, 31, pp. 639-646Russell, K.A., Allen, V.M., MacDonald, M.E., Smith, K., Dodds, L., A population-based evaluation of antenatal diagnosis of orofacial clefts (2008) Cleft Palate-Craniofacial Journal, 45 (2), pp. 148-153. , DOI 10.1597/06-202.1Bunduki, V., Ruano, R., Sapienza, A.D., Hanaoka, B.Y., Zugaib, M., Diagnóstico pré-natal de fenda labial e palatina: Experiência de 40 casos (2001) RBGO, 23, pp. 561-566Grandjean, H., Larroque, D., Levi, S., The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study (1999) American Journal of Obstetrics and Gynecology, 181 (2), pp. 446-454. , DOI 10.1016/S0002-9378(99)70577-6Amstalden-Mendes, L.G., Magna, L.A., Gil-da-Silva-Lopes, V.L., Neonatal care of infants with cleft lip and/or palate: Feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital (2007) Cleft Palate-Craniofacial Journal, 44 (3), pp. 329-334. , DOI 10.1597/05-177Reid, J., A review of feeding interventions for infants with cleft palate (2004) Cleft Palate-Craniofacial Journal, 41 (3), pp. 268-278. , DOI 10.1597/02-148.1Shaw, W.C., Semb, G., Nelson, P., Brattström, V., Molsted, K., Prahl- Andersen, B., The Eurocleft Project 1996-2000: Overview (2001) J Cranio-maxillofacial Surgery, 29, pp. 131-140Chitty, L.S., Griffin, D.R., Anormalidades do lábio e do palato fetal: Diagnóstico ultra-sonográfico (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 107-116. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosHabel, A., O papel do pediatra (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 123-135. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosRibeiro-Roda, S., Gil-da-Silva-Lopes, V.L., Aspectos odontológicos das fendas labiopalatinas e orientações para cuidados básicos (2008) Rev Cienc Med, 17, pp. 95-103Monlleo, I.L., Gil-da-Silva-Lopes, V.L., Craniofacial anomalies: Description and evaluation of treatment under the Brazilian Unified Health System (2006) Cadernos de Saude Publica, 22 (5), pp. 913-922. , http://www.scielo.br/pdf/csp/v22n5/04.pdfLoffredo, L.C., Freitas, J.A., Grigolli, A.A., Prevalência das fissuras orais de 1975 a 1994 (2001) Rev Saude Publica, 35, pp. 571-575Nunes, L.M., Queluz, D.P., Pereira, A.C., Prevalência de fissuras labiopalatais no município de Campos dos Goytacazes-RJ, 1999-2004 (2007) Rev Bras Epidemiol, 10, pp. 109-116Cerqueira, M.N., Teixeira, S.C., Naressi, S.C., Ferrreira, A.P., Ocorrência de fissuras labiopalatais na cidade de São José dos Campos-SP (2005) Rev Bras Epidemiol, 8, pp. 161-166Di Ninno, C.Q., Santos, P.G., Bueno, M.G., Syrio, I.M., A influência da época do diagnóstico das fissuras labiopalatinas (2006) Rev Soc Bras Fonoaudiol, 11, pp. 75-81Jones, M.C., Prenatal diagnosis of cleft lip and palate: Detection rates, accuracy of ultrasonography, associated anomalies and strategies for counseling (2002) Cleft Palate Craniofac J, 39, pp. 169-173Johnson, N., Sandy, J.R., Prenatal diagnosis of cleft lip and palate (2003) Cleft Palate-Craniofacial Journal, 40 (2), pp. 186-189. , DOI 10.1597/1545-1569(2003)0402.0.CO;2Bradbury, E., Bannister, P., Aconselhamento pré-natal, perinatal e pós-natal (2005) Tratamento de Fissura Labial e Fenda Palatina, pp. 117-122. , Watson AC, Sell DA, Grunwell P. São Paulo: Editora SantosDi Ninno, C.Q., Gomes, R.O., Santos, P.G., Bueno, M.G., Galvão, D.A., Meira, A.L., O conhecimento de profissionais da área da saúde sobre fissura labiopalatina (2004) Rev Soc Bras Fonoaudiol, 9, pp. 93-101Schardosim, L.R., Nogueira, D.A., Bosco, V.L., Pereima, M.J., Bebês portadores de fissura labiopalatal: Satisfação dos pais com as orientações recebidas dos profissionais (2004) JBP Rev Ibero-am Odontopediatr Odontol Bebe, 7, pp. 568-573Amstalden-Mendes, L.G., Gil-da-Silva-Lopes, V.L., Fenda de lábio e ou palato: Recursos para alimentação antes da correção cirúrgica (2006) Rev Cienc Med, 15, pp. 437-448. , CampinasVieira, G.O., Martins, C.C., Vieira, T.O., De Oliveira, N.F., Silva, L.R., Factors predicting early discontinuation of exclusive breastfeeding in the first month of life (2010) J Pediatr, 86, pp. 441-444. , Rio

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

The DUNE far detector vertical drift technology. Technical design report

DUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

Craniofacial Anomalies: Description And Evaluation Of Treatment Under The Brazilian Unified Health System [anomalias Craniofaciais: Descrição E Avaliação Das Características Gerais Da Atenção No Sistema Único De Saúde]

The first initiative for treating craniofacial anomalies under the Brazilian Unified Health System was in 1993. An important step was the creation of the Reference Network for Craniofacial Treatment. There are now 29 services listed in this Network. The current study aimed to describe and assess the general characteristics of healthcare in this Network. Data were colleted by a questionnaire, sent to the centers. Response rate was 86.2%. The results showed an increase in services in Southeast Brazil, in universities, and in relation to cleft lip and palate; public financing was prevalent; team composition was largely in accordance with North American standards; routine care occurred in 90%; and 70% used clinical protocols. The Network's name does not appear to entirely reflect its scope. The results show the need to review the Network's definition, aims, and achievements and the standards for inclusion of craniofacial centers.225913922Penchaszadeh, V.B., Genética y salud pública (1993) Bol Oficina Sanit Panam, 115, pp. 1-11(1999) Services for the Prevention and Management of Genetic Disorders and Birth Defects in Developing Countries, , Hague: Word Health OrganizationVictora, C.G., Barros, F.C., Infant mortality due to perinatal causes in Brazil: Trends, regional patterns and possible interventions (2001) São Paulo Med J, 119, pp. 33-42Mortalidade Perinatal, , http://tabnet.datasus.gov.br/Gorlin, R.J., Cohen Jr., M.M., Levin, L.S., (1990) Syndromes of the Head and Neck, , New York: Oxford University PressCohen Jr., M.M., Gorlin, R.J., Fraser, F.C., Craniofacial disorders (1997) Emery and Rimoin's Principles and Practice of Medical Genetics, pp. 1121-1148. , Rimoin DL, Connor JM, Pyeritz RE, editors. New York: Churchill Livingstone(2002) Global Strategies to Reduce the Health-care Burden of Craniofacial Anomalies, , Geneva: Word Health OrganizationHunter, A.G.W., Brain (1993) Human Malformations and Related Anomalies, pp. 27-38. , Stevenson RE, Hall JG, Goodman RM, editors. New York: Oxford University PressMossey, P.A., Little, J., Epidemiology of oral clefts: An international perspective (2002) Cleft Lip and Palate from Origin to Treatment, pp. 127-158. , Wyszynski DF, editor. New York: Oxford University PressCastilla, E.E., Lopez-Camelo, J.S., Paz, J.E., (1995) Atlas Geográfico de Las Malformaciones Congénitas en Sudamérica, , Rio de Janeiro: Editora FiocruzCorrea, A., Edmonds, L., Birth defects surveillance systems and oral clefts (2002) Cleft Lip and Palate from Origin to Treatment, pp. 117-126. , Wyszynski DF, editor. New York: Oxford University PressBerk, N.W., Marazita, M.L., Costs of cleft lip and palate: Personal and societal implications (2002) Cleft Lip and Palate from Origin to Treatment, pp. 458-467. , Wyszynski DF, editor. New York: Oxford University PressShaw, W.C., Dahl, E., Asher-Macdade, C., Orth, D., Brattström, V., Mars, M., A six-center international study of treatment outcome in patients with clefts of the lip and palate: Part 5. General discussion and conclusions (1992) Cleft Palate Craniofac J, 29, pp. 413-418Hammond, M., Stassen, L., Do you care? A national register for cleft lip and palate patients (1999) Br J Oral Maxillofac Surg, 37, pp. 81-86Strauss, P.R., Cleft palate and craniofacial teams in the United States and Canada: A national survey of team organization and standards of care (1998) Cleft Palate Craniofac J, 35, pp. 473-480(2000) Parameters for Evaluation and Treatment of Patients with Cleft Lip/palate or Other Craniofacial Anomalies, , Chapel Hill: American Cleft Palate-Craniofacial AssociationShaw, W.C., Semb, G., Nelson, P., Brattström, V., Molsted, K., Prahl-Andersen, B., The Eurocleft Project 1996-2000: Overview (2001) J Craniomaxillofac Surg, 29, pp. 131-140Strauss, R.P., Developing a cleft palate or craniofacial team (2002) Cleft Lip and Palate from Origin to Treatment, pp. 293-302. , Wyszynski DF, editor. New York: Oxford University PressReport on the Register: February 2003, , http://www.cfsgb.org.uk/care/Global registry and database on craniofacial anomalies (2003) Report of a WHO Registry Meeting on Craniofacial Anomalies, , Geneva: Word Health OrganizationPortaria SAS/MS n. 126. Cria grupos e procedimentos para tratamento de lesões labiopalatais na tabela SIH/SUS, e dá outras providências (1993) Diário Oficial Da União, , Brasil. 21 setPortaria SAS/MS n. 62. Normaliza cadastramento de hospitais que realizem procedimentos integrados para reabilitação estético- funcional dos portadores de má-formação labiopalatal para o Sistema Único de Saúde, e dá outras providências (1994) Diário Oficial Da União, , Brasil. 14 abr(2002) Reduzindo As Desigualdades e Ampliando O Acesso à Assistência à Saúde No Brasil 1998-2002, , Brasília: Editora MSPortaria GM/MS n. 1278. Normaliza cadastramento de centros/núcleos para realização de implante coclear, e dá outras providências (1999) Diário Oficial Da União, , Brasil. 20 outSandy, J.R., Williams, A.C., Bearn, D.R., Mildinhall, S., Murphy, T., Sell, D., Cleft lip and palate care in the United Kingdom - The Clinical Standards Advisory Group (CSAG) Study: Part 1 - Background and methodology (2001) Cleft Palate Craniofac J, 38, pp. 20-23Portaria GM/MS n. 531. Cria no âmbito do Sistema Único de Saúde o Fundo de Ações Estratégicas e de Compensação, e dá outras providências (1999) Diário Oficial Da União, , Brasil. 8 maiSistema de Informações Hospitalares, , http://tabnet.datasus.gov.br/cgi/tabcgi.exe?sih/cnv/piuf.defNorma Operacional da Assistência à Saúde - NOAS-SUS 01/2002 (2002) Diário Oficial Da União, , Brasil. 28 fevCecílio, L.C.O., As necessidades de saúde como conceito estruturante na luta pela integralidade e eqüidade na atenção em saúde (2001) Os Sentidos Da Integralidade Na Atenção e No Cuidado à Saúde, pp. 113-126. , Pinheiro R, Mattos RA, organizadores. Rio de Janeiro: Instituto de Medicina Social/Universidade do Estado do Rio de Janeiro/ABRASC

Developmental Aspects Of Oral Language In Craniosynostosis [aspectos Sobre Desenvolvimento De Linguagem Oral Em Craniossinostoses Sindrômicas.]

BACKGROUND: Aspects of language development in craniosynostosis. Craniosynostosis (premature fusion of the cranial sutures) has an incidence of 0.4 to 1/1000 newborns. Etiology for this congenital anomaly includes environmental and genetic factors. Regarding the form of presentation, it can occur in its isolated form or associated to other congenital anomalies. For this last group, acrocephalosyndactilies are observed. These are genetically determined conditions which present phenotypic similarity, including the following syndromes: Saethre-Chotzen, Apert, Crouzon e Pfeiffer. As all of these conditions affect the craniofacial development, it is possible to find anatomic and functional interferences which determine language delays and/or deficits. AIM: To revise the literature concerning aspects related to normal verbal language development and to describe the main characteristics associated to this condition in children who present Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. A systematic review on syndromic craniosynostosis and oral language was performed, consulting Medline, Lilacs and other important references on this theme. CONCLUSION: Several manifestations related to hearing and language have been detected in individuals with syndromic craniosynostosis. The most important are alterations in the sound conduction system, leading to hearing losses, and consequently interfering in language acquisition and development. For this reason, speech-language diagnosis and early intervention are recommended in order to eliminate or minimize damages in language acquisition and development.18221322

Malformations Of Cortical Development In Patients With Midline Facial Defects And Ocular Hypertelorism

Objectives: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). Methods: The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs). Results: We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17 (42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. Conclusion: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.474343351Alzoum, M.A., Alorainy, I.A., Al Husain, M., Al Ruhaimi, K., Multiple pericallosal lipomas in two siblings with frontonasal dysplasia (2002) American Journal of Neuroradiology, 23 (4), pp. 730-731Barkovich, A.J., Magnetic resonance imaging: Role in the understanding of cerebral malformations (2002) Brain and Development, 24 (1), pp. 2-12. , DOI 10.1016/S0387-7604(01)00327-8, PII S0387760401003278Barkovich, A.J., Kuzniecky, R.I., Jackson, G.D., Guerrini, R., Dobyns, W.B., Classification system for malformations of cortical development: Update 2001 (2001) Neurology, 57, pp. 2168-2178Barkovich, A.J., Kuzniecky, R.I., Dobyns, W.B., Radiologic classification of malformations of cortical development (2001) Current Opinion in Neurology, 14 (2), pp. 145-149. , DOI 10.1097/00019052-200104000-00002Barkovich, A.J., Rowley, H.A., Andermann, F., MR in partial epilepsy: Value of high-resolution volumetric techniques (1995) Am J Neuroradiol, 16, pp. 339-343Cohen Jr., M.M., Sedano, H.O., Gorlin, R.J., Jirasek, J.E., Frontonasal dysplasia (median cleft face syndrome): Comments on etiology and pathogenesis (1971) Birth Defect, 7, pp. 117-119Darab, D.J., Minkoff, R., Sciote, J., Sulik, K.K., Pathogenesis of median facial clefts in mice treated with methotrexate (1987) Teratology, 36 (1), pp. 77-86. , DOI 10.1002/tera.1420360111DeMyer, W., The median cleft face syndrome. 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