Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997

Vieira, Alexandre R.; Romitti, Paul A.; Orioli, Iêda M.; Castilla, Eduardo E.

doi:10.1590/s1517-74912003000200012

Cited by 12 publications

(15 citation statements)

References 16 publications

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“…Os estudos de gêmeos com concordância para os monozigóticos comprovaram que o fator genético é importante para a etiologia das FLP não sindrômicas. Os fatores ambientais também têm influência (7,(12)(13)(14)(15)(16) . Alguns fatores ambientais envolvidos na etiologia da FLP como vírus ou hipertermia, pesticidas, desnutrição, fumo, álcool, drogas como antagonistas do ácido fólico, valproato, difenilhidantoína, fenobarbital, trimetadiona, corticóides, ácido retinóico e hipoxia têm sido identificados, porém para alguns agentes ainda há a necessidade de maiores estudos para comprovação da sua influência na susceptibilidade para FLP (4,7,(17)(18)(19) .…”

Section: Etiologiaunclassified

“…Alguns fatores ambientais envolvidos na etiologia da FLP como vírus ou hipertermia, pesticidas, desnutrição, fumo, álcool, drogas como antagonistas do ácido fólico, valproato, difenilhidantoína, fenobarbital, trimetadiona, corticóides, ácido retinóico e hipoxia têm sido identificados, porém para alguns agentes ainda há a necessidade de maiores estudos para comprovação da sua influência na susceptibilidade para FLP (4,7,(17)(18)(19) . Nos casos em que há FLP isoladas, sem outras anomalias pode haver uma etiologia monogênica (16,17) . Há casos em que a FLP está associada a uma síndrome.…”

Section: Etiologiaunclassified

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Atualização sobre o tratamento multidisciplinar das fissuras labiais e palatinas

Ribeiro¹,

Moreira²

2005

RBPS

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Update about the multidisciplinary treatment of cleft lip and palate RESUMOAs fissuras labiopalatais (FLP) estão incluídas entre as anomalias congênitas mais comuns. Conhecendo a importância das FLP, o objetivo desse trabalho é informar e ajudar a profissionais de saúde a estabelecer um diagnóstico e tratamento adequado. Essa revisão é baseada em relevante literatura. A fonte de dados foi MEDLINE, LILACS e livrostexto. As palavras chave utilizadas na pesquisa foram fissura de lábio e palato. As FLP ocorrem em aproximadamente 1/600 nascimentos em todo o mundo. A prevalência varia consideravelmente com regiões geográficas e grupos étnicos. A genética das FLP é extremamente complexa e inclue causas monogênicas, doenças cromossômicas, interações poligênicas, riscos ambientais e entre gene e ambiente. Há uma considerável variação na proporção de casos com FLP associados a anomalias congênitas e síndromes. A ultrassonografia tem sido utilizada para detectar FLP no pré-natal. Os pacientes com FLP necessitam de tratamento multidisciplinar cirúrgico e não-cirúrgico com pediatra, geneticista, psicólogo, nutricionista, odontologista. O tratamento das FLP é importante devido ao seu impacto na fala, audição, aparência e cognição tem uma influência prolongada e adversa na saúde e integração social. O custo causado pelas fissuras labiais e palatinas em termos de morbidade, cuidados de saúde, distúrbios emocionais, sociais e exclusão do trabalho são consideráveis para o indivíduo afetado, sua família e a sociedade. As pesquisas podem aumentar a compreensão das causas de fissuras labiais e palatinas, melhoria do tratamento e principalmente na prevenção.Descritores: fissura lábiopalatina, fatores de risco, epidemiologia, anormalidades, tratamento ABSTRACT Cleft of the lip and palate (CLP) are included among the more common congenital anomalies. Knowing about the importance of the disease, the objective of this study is to inform and to help the health professionals to establish the correct diagnosis and treatment. This review is based on the relevant literature published. The source of data was MEDLINE, LILACS

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Section: Etiologiaunclassified

Atualização sobre o tratamento multidisciplinar das fissuras labiais e palatinas

Ribeiro¹,

Moreira²

2005

RBPS

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“…Gilchrist et al [7] assessed the use of intranasal midazolam (0.25 mg/kg) in pediatric dental patients requiring extractions or simple surgical procedures who may otherwise have required a general anaesthetic and concluded that those physiological parameters remained stable. Metal et al [14], compared midazolam and diazepam in gastroscopy and stated that with a dose of 0.07 mg/kg of midazolam there was an increase in pulse rate immediately after injecting the midazolam. Forster et al [10] used intra venous midazolam as an induction agent for anaesthesia and stated that, midazolam, 0.15 mg/kg IV over 15 secs, produces statistically significant increase in pulse rate (18%).…”

Section: Journal Of Dental and Craniofacial Researchmentioning

confidence: 99%

Conscious Sedation in Minor Oral Surgery with Midazolam IV Versus Nasal Spray a Comparative Study

Pm¹,

Haripriya²,

Shaik³

et al. 2017

J Den Craniofac Res

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Aim: The purpose of this study was to assess the effectiveness of nasal spray midazolam by comparing it with conventional intravenous midazolam conscious sedation in minor oral surgical procedures.Objective: To assess the safety and effectiveness of the midazolam nasal spray in comparison to its IV midazolam. Patients and methods:Total forty number of patients were selected, and they were divided in to two groups. Group A for intra nasal midazolam atomized spray (n=20) and Group B for intravenous midazolam (n=20). Physiological parameters, anxiety score, sedation rating, patient's cooperation score, retrograde and anterograde amnesia were recorded for each patient during preoperative, intra operative and postoperative period. Final evaluation of safety and efficacy in the nasal and intravenous routes of midazolam drug during minor oral surgery were compared.Results: In the present study both intranasal and intravenous groups showed decrease in SBP and DBP intra operatively but in physiological limits and increase in the average pulse rates in the both groups. The average oxygen saturation levels were maintained to normal range in both the groups. The average respiratory rate decreased in the both intranasal and intravenous groups during surgical procedure. The preoperative to postoperative anxiety scores were decreased significantly in the both groups and there was no significant difference in pre to postoperative anxiety scores in between the groups. Conclusion:Both intravenous and intranasal routes of administration of midazolam showed patient cooperation, satisfaction and clinical effectiveness. Intranasal route of midazolam spray is effective in reduction of subjective stress feelings, reliable anxiolysis while preserving protective reflexes.

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“…Markers at two of the five candidate genes (TGFβ3 and MSX1) showed consistent evidence of linkage and disequilibrium due to linkage. Similarly, Vieira et al [14] attempted to detect transmission distortion of MSX1 and TGFβ3 in 217 South American children from their respective mothers. A joint analysis of MSX1 and TGFβ3 suggested that there might be an interaction between these two genes increasing cleft susceptibility.…”

Section: Introductionmentioning

confidence: 99%

“…Also, in the same population, MSX1 CA-repeats polymorphism was found associated with NCL/P [25]. A joint analysis of MSX1 and TGFβ3 in South American children by Vieira [14] suggested that there may be an interaction between these two genes which increases cleft susceptibility. A similar interaction between MSX1 and TGFβ3 in the Guatemalan population may need to be investigated.…”

mentioning

confidence: 98%

Association of TGFβ3 variants with Nonsyndromic Cleft Lip and Palate in Guatemalan Population.

Aljabeiti¹,

Salahuddin²,

Tolar³

et al. 2017

J Den Craniofac Res

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Introduction: Nonsyndromic cleft lip with or without cleft palate (NCL/P) is a common orofacial anomaly with a multifactorial etiology. The genetic component of NCL/P etiology is complex with multiple genes involved. The transforming growth factor beta 3 (TFGβ3) is among the strong susceptibility genes that have been shown to be involved in morphogenesis of lip and palate. Materials and Methods:Case-control study design was used in this study. Cases (n=237) were patients affected with NCL/P identified at the Roosevelt Hospital in Guatemala City, Guatemala. Controls (n=168) were individuals with no history of NCL/P from the same hospital. Genotypes were established by PCR and PAGE for TGFβ3 rs2300607 A/T SNP and by PCR and sequencing for TGFβ3 rs2268625 C/T SNP.Results: For rs2300607A/T, a proportion of TT homozygotes was significantly higher (p=0.029) in cases than in controls (13.92% vs 5.36%). T allele frequency was 0.340 in cases and 0.274 in controls. Also for rs2268625 C/T, a significantly higher proportion of TT homozygotes was found among cases than among controls (p=0.041; 54.0% vs. 48.98%). Frequency of mutated T allele was 0.744 in cases and 0.694 in controls. Conclusion:The results of our study showed for the first time the association between TGFβ3 rs2268625 C/T polymorphism and NCL/P and confirmed for Guatemalan population the association between TGFβ3 rs2300607 A/T polymorphism and NCL/P found by Ichikawa in Japanese by Ichikava et al. in 2006. Thus, our findings suggest that rs2268625 C/T and rs2300607 A/T mutations in the TGFβ3 gene are associated with NCL/P in Guatemalan population. Keywords Nonsyndromic cleft lip and palate TFGβ3;TGFβ3 rs2300607 A/T; TGFβ3 rs2268625; C/T Guatemala; Casecontrol study IntroductionOrofacial clefts (OFC) are among the most common craniofacial malformations in humans. The prevalence rates vary between 0.5 and 3 per 1000 total births, with considerable variations between populations, genders and geographic regions [1].In general, Asian and Amerindian populations have the highest frequencies of OFC, often at 1/500, and Africanderived populations have the lowest frequencies at 1/2500 [2]. Tolarova and Cervenka [3] analyzed the occurrence of OFC in an ethnically diverse population in California. The non-Hispanic whites had the highest birth prevalence of isolated clefts, followed by Asians and blacks who had the lowest values.In the USA, twenty infants are born with an orofacial cleft on an average day, or 7500 every year. Children who have an OFC require several surgical procedures and complex medical treatments and, together with their families, often suffer serious psychological problems. The estimated lifetime medical cost for each child with an OFC is $100,000, amounting to $750 million for all children with OFC born each year in the USA [4].Recently, over 30 potential candidate loci and candidate genes throughout the human genome were identified as strong susceptibility genes for OFC. The MSX1 (4p16.1), TGFα (2p13), TGFβ1 (19q13.1), TGFβ2 (1q41), TGFβ3 (1...

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Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997

Cited by 12 publications

References 16 publications

Atualização sobre o tratamento multidisciplinar das fissuras labiais e palatinas

Atualização sobre o tratamento multidisciplinar das fissuras labiais e palatinas

Conscious Sedation in Minor Oral Surgery with Midazolam IV Versus Nasal Spray a Comparative Study

Association of TGFβ3 variants with Nonsyndromic Cleft Lip and Palate in Guatemalan Population.

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