Use of zebrafish to test candidate genes and mutations associated with structural birth defects, primarily in cleft lip and palate

2014 ◽  
Author(s):  
Tiffany Lynn Smith
Keyword(s):  
Candidate Genes ◽  
Birth Defects ◽  
Cleft Lip ◽  
Cleft Lip And Palate

scholarly journals Burden and consequence of birth defects in Nepal-evidence from prospective cohort study

2021 ◽  
Author(s):  
Prajwal Paudel ◽  
Avinash K Sunny ◽  
Rejina Gurung ◽  
Abhishek Gurung ◽  
Honey Malla ◽  
...  
Keyword(s):  
Risk Factor ◽  
Cohort Study ◽  
Prospective Cohort Study ◽  
Birth Defects ◽  
Prospective Cohort ◽  
Birth Defect ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Birth Asphyxia ◽  
Neonatal Infection

Abstract Background-Every year an estimated 7.9 million babies are born with birth defect. Of these babies, more than 3 million die and 3.2 million have disability. Improving nationwide information on prevalence of birth defect, risk factor and consequence is required for better resource allocation for prevention, management and rehabilitation. In this study, we assess the prevalence of birth defect, associated risk factors and consequences in Nepal.Method-This is a prospective cohort study conducted in 12 hospitals of Nepal for 18 months. All the women who delivered in the hospitals during the study period was enrolled. Independent researchers collected data on the social and demographic information using semi-structured questionnaire at the time of discharge and clinical events and birth outcome information from the clinical case note. Data were analyzed on the prevalence and type of birth defect. Logistic regression was done to assess the risk factor and consequences for birth defect. Results-Among the total 87,242 livebirths, the prevalence of birth defects was found to be 5.8 per 1000 live births. The commonly occurring birth defects were anencephaly (3.95%), cleft lip (2.77%), cleft lip and palate (6.13%), clubfeet (3.95%), eye abnormalities (3.95%) and meningomyelocele (3.36%). The odds of birth defect was higher among mothers with age <20 years (adjusted Odds ratio (aOR) 1.64; 95% CI, 1.18-2.28) and disadvantaged ethnicity (aOR 1.78; 95% CI, 1.46-2.18). The odds of birth asphyxia was twice fold higher among babies with birth defect (aOR 1.88; 95% CI, 1.41-2.51) in reference with babies without birth defect. The odds of neonatal infection was twice fold higher among babies with birth defect (aOR 1.82; 95% CI, 1.12-2.96) in reference with babies without birth defect. Babies with birth defect had three-fold risk of pre-discharge mortality (aOR 3.00; 95% CI, 1.93-4.69). Conclusion- Babies with birth defect have high risk for birth asphyxia, neonatal infection and pre-discharge mortality at birth. Further evaluation on the care provided to babies who have birth defect is warranted.

scholarly journals 06-P006 Use of stem cells to identify novel signaling pathways and candidate genes associated with Non-Syndromic Cleft Lip and Palate (NSCL/P)

2009 ◽  
Vol 126 ◽  
pp. S121-S122
Author(s):  
Daniela F. Bueno ◽  
Daniele Y. Sunaga ◽  
Gerson S. Kobayashi ◽  
Meire Aguena ◽  
Cassio E.R. Amaral ◽  
...  
Keyword(s):  
Stem Cells ◽  
Signaling Pathways ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Cleft Lip And Palate

scholarly journals Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

PLoS Genetics ◽  
2005 ◽  
Vol 1 (6) ◽  
pp. e64 ◽  
Author(s):  
Alexandre R Vieira ◽  
Joseph R Avila ◽  
Sandra Daack-Hirsch ◽  
Ecaterina Dragan ◽  
Têmis M Félix ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Cleft Lip ◽  
Cleft Lip And Palate

Incidence of Cleft Lip and Palate and Risks of Additional Malformations

1998 ◽  
Vol 35 (1) ◽  
pp. 40-45 ◽  
Author(s):  
Catharina Hagberg ◽  
Ola Larson ◽  
Josef Milerad
Keyword(s):  
Birth Weight ◽  
Birth Defects ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Live Births ◽  
Different Types ◽  
Mother’S Age ◽  
Rate Ratios ◽  
Isolated Cleft Palate ◽  
Similar Incidence

Objective and Methods Children with cleft lip and/or palate (n = 251) born between 1991 and 1995 in the county of Stockholm, Sweden, were studied with reference to incidence and rate ratios (RRs) of different types of clefts, gender, birth weight, mother's age, and length of pregnancy. Children who had clefts and additional malformations were compared with children who had clefts but no additional malformations. Results The incidence of clefts was 2.0/1000 live births, and it was higher among males than among females. The RR, an index of relative risk, was 1.58. The main groups, children with isolated cleft lip, children with cleft lip and palate, and children with isolated cleft palate, showed similar incidence values (0.6-0.7/1000 live births). Children with bilateral clefts had an incidence of 0.3/1000 live births. Additional malformations were found in approximately every sixth newborn with a cleft when children with Robin sequence were excluded. There was a tendency for newborns with bilateral clefts to have additional malformations (RR = 1.36; confidence interval = 0.74-2.49). Children with clefts and additional malformations had lower birth weight and were born earlier than children with clefts only. Conclusion Preterm cleft children with low birth weight should be screened for the presence of other birth defects.

Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people

2000 ◽  
Vol 99 (2) ◽  
pp. 105 ◽  
Author(s):  
Atsuko TANABE ◽  
Shigeru TAKETANI ◽  
Yoko ENDO-ICHIKAWA ◽  
Rikio TOKUNAGA ◽  
Yutaka OGAWA ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Japanese People

scholarly journals Prevalence of cleft lip and/or cleft palate in Guangdong province, China, 2015–2018: a spatio-temporal descriptive analysis

BMJ Open ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. e046430
Author(s):  
Yingxian Zhu ◽  
Huazhang Miao ◽  
Qinghui Zeng ◽  
Bing Li ◽  
Degang Wang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Pearl River Delta ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Guangdong Province ◽  
Pearl River ◽  
Pearl River Delta Region ◽  
Delta Region ◽  
Spatio Temporal

ObjectivesThis study aimed to investigate the temporal and spatial characteristics of cleft lip and/or palate based on a large-scale birth defect monitoring database.MethodsData on perinatal infants and children with cleft lip and/or palate defects from 1 January 2015 to 31 December 2018 in Guangdong province of China were collected. The variables including the demographic data, basic family information (address, education level, etc.), the infant’s birth weight, gender and other basic parameters were collected and analysed.ResultsDuring the study period, the prevalence of cleft lip and/or palate was 7.55 per 10 000 perinatal infants. The prevalence of cleft lip, cleft palate and cleft lip and palate were 2.34/10 000, 2.22/10 000 and 2.98/10 000, respectively. The prevalence of cleft lip and/or palate showed a pronounced downward trend, reducing from 8.47/10 000 in 2015 to 6.51/10 000 in 2018. We observed spatial heterogeneity of prevalence of cleft lip and/or palate across the study period in Guangdong. In the Pearl River Delta region, the overall prevalence of cleft lip and/or palate was 7.31/10 000, while the figure (7.86/10 000) was slightly higher in the non-Pearl River Delta region (p<0.05). Concerning infant gender, the prevalence was in general higher in boys than girls (p<0.05). In addition, the higher prevalence was more common in mothers older than 35 years old. For the birth season, infants born in spring tended to have a higher prevalence than those born in other seasons, regardless of the prevalence of cleft lip and palate calculated separately or jointly (p<0.05). The majority of newborns with cleft lip and palate were accompanied by other birth defects.ConclusionThis study contributes a better understanding of the characteristics of spatio-temporal trends for birth defects of cleft lip and/or palate in south China.

Book Review: A Practical Guide to Cleft Lip and Palate Birth Defects

1986 ◽  
Vol 95 (2) ◽  
pp. 252-253
Author(s):  
Douglas E. Mattox ◽  
G. David Neal
Keyword(s):  
Birth Defects ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Practical Guide

Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin

2011 ◽  
Vol 119 (6) ◽  
pp. 413-417 ◽  
Author(s):  
Baiba Lace ◽  
Inga Kempa ◽  
Linda Piekuse ◽  
Ieva Grinfelde ◽  
Janis Klovins ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Geographical Origin ◽  
Association Studies

Studies of the Candidate Genes TGFB2, MSX1, TGFA, and TGFB3 in the Etiology of Cleft Lip and Palate in the Philippines

1997 ◽  
Vol 34 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Andrew C. Lidral ◽  
Jeffrey C. Murray ◽  
Kenneth H. Buetow ◽  
Ann M. Basart ◽  
Heidi Schearer ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
The Philippines
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