IRE1 Less Common Homozygous Genotype in Families With Positive History of Cancer and Individuals Born With Cleft Lip/Palate

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ionária O. Assis ◽  
Rosa Helena W. Lacerda ◽  
Bianca G.N. Cavalcante ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Positive History ◽  
Homozygous Genotype ◽  
Cleft Lip Palate ◽  
History Of ◽  
History Of Cancer

scholarly journals IRF6 Genetic Variation and Maternal Smoking During Pregnancy in Cleft Lip/Palate

2021 ◽  
Vol 2 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Mine Koruyucu ◽  
Eyosiyas K. Bekele ◽  
Figen Seymen ◽  
Adriana Modesto
Keyword(s):  
Genetic Variation ◽  
Maternal Smoking ◽  
Cleft Lip ◽  
Published Data ◽  
Smoking During Pregnancy ◽  
Positive History ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
History Of ◽  
Maternal Smoking During Pregnancy

The goal of the present work was to revisit published data to test if genetic variation in interferon regulatory factor 6 (IRF6) is associated with children born with cleft lip with or without cleft palate (CL/P) for cases with positive history of maternal smoking. From the 573 individuals originally studied, this reanalysis focused on 57 who had a positive history of maternal smoking during pregnancy (39 born with CL/P and 18 born without CL/P). Seven IRF6 markers (rs4844880, rs2235371, rs2013162, ra861019, rs2073487, rs642961, and rs658860) were tested for over-transmission of alleles and an alpha of 0.05 was considered statistically significant. All individuals born with CL/P were homozygous for the wild type allele of rs2235371 in comparison to just two individuals born without clefts (p = 0.0000001). For rs861019, individuals born with CL/P were more likely to have the variant allele (p = 0.006). A similar trend was seen for rs642961 (p = 0.09). The results suggest that statistical evidence of over-representation of IRF6 alleles in individuals born with CL/P may be unveiled only when maternal smoking during pregnancy is used as the inclusion criterion in the analysis.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

Treatment Outcome of Bangladeshi UCLP Patients Based on Both Phenotype and Postnatal Treatment Factors using Modified Huddart Bodenham (mHB) Index

2018 ◽  
Vol 55 (7) ◽  
pp. 966-973 ◽  
Author(s):  
Sanjida Haque ◽  
Mohammad Khursheed Alam ◽  
Mohd Fadhli Khamis
Keyword(s):  
Regression Analysis ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Arch ◽  
Kappa Statistics ◽  
Class Iii ◽  
Chi Square ◽  
Positive History ◽  
Postnatal Treatment ◽  
History Of

Objective: To evaluate the dental arch relationship (DAR) of nonsyndromic unilateral cleft lip and palate (UCLP) and to explore the various phenotype and postnatal treatment factors that are responsible for poor DAR. Design: Retrospective study. Setting: School of Dental Science, Universiti Sains Malaysia. Subjects: Eighty-four Bangladeshi children with nonsyndromic UCLP who received cheiloplasty and palatoplasty. Main Outcome Measures: Dental models were taken at 5 to 12 years of age (man: 7.69), and dental arch relationships were assessed using modified Huddart/Bodenham index (mHB) by two raters. Kappa statistics was used to evaluate the intra- and interexaminer agreements, chi-square was used to assess the associations, and logistic regression analysis was used to explore the responsible factors that affect DAR. Results: The total mHB score (mean [SD]) was −8.261 (7.115). Intra- and interagreement was very good. Using crude and stepwise backward regression analysis, significant association was found between positive history of class III (P = .025, P = .030, respectively) and unfavorable DAR. Complete UCLP (P = .003) was also significantly correlated with unfavorable DAR. Conclusion: This multivariate study suggested complete type of UCLP and positive history of class III had a significantly unfavorable effect on the DAR.

scholarly journals Assessment of role of consanguinity in formation of cleft lip and cleft palate

2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chi Square ◽  
Consanguineous Marriages ◽  
Cleft Lip Palate ◽  
Chi Square Test ◽  
History Of ◽  
Autosomal Recessive Diseases

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

scholarly journals Sella Turcica Bridging and its Association with Dental Anomalies

2021 ◽  
Vol 15 (1) ◽  
pp. 473-478
Author(s):  
Divya Siddalingappa ◽  
Arun S. Urala ◽  
Kalyana C. Pentapati ◽  
Ravindranath Vineetha ◽  
G. Lakshmi Prasad
Keyword(s):  
Cleft Lip ◽  
Morphological Changes ◽  
Sella Turcica ◽  
Control Group ◽  
Study Group ◽  
Patient Records ◽  
Dental Anomalies ◽  
Group Type ◽  
Cleft Lip Palate ◽  
History Of

Aim: This study aimed to study the overall incidence of DA and its association with Sella Turcica bridging (STB). Background: Dental anomalies (DA) are associated with morphological changes in the Sella Turcica (ST). Materials and Methods: We retrieved the pretreatment patient records from March 2018 - March 2020 from the archives of the Orthodontics Department (n=806). We excluded the records with missing radiographs, concomitant cleft lip/ palate, history of surgical repair of cleft lip/ palate or any other craniofacial anomaly, history of trauma, and prior orthodontic treatment. A total of 676 patient records were included for initial screening, out of which 103 patients had DA (study group). A similar number of records (n=103) without any DA were randomly selected to constitute a control group. Determination of the extent of STB was done by calibrated and trained examiner. Age and sex were also recorded. Results: The incidence of DA was 15.24%. The most common anomalies recorded were impacted canines (6.8%) and hyperdontia (3.7%), followed by agenesis (2.1%) and others. Type III bridging in patients with DA was 22.3%, while being 9.7% in the control group. Type II bridging was observed in 36.8% of patients with DA as compared to 29.1% in the control group. The presence of partial and complete STB in patients with dental anomalies was significantly higher than in the control group (P=0.006). The study group showed significant association with STB (OR: 2.33; P=0.003; 95%CI: 1.33-4.11) after adjusting for sex. Conclusion: The results of our study revealed a significant association between STB and DA.

scholarly journals Analysis of cancer perception by elderly people

2018 ◽  
Vol 16 (2) ◽  
Author(s):  
Isaac Felipe Leite Braz ◽  
Raquel Andresa Duarte Gomes ◽  
Mariele Silva de Azevedo ◽  
Francisco das Chagas Marison Alves ◽  
Danilo Silveira Seabra ◽  
...  
Keyword(s):  
Early Detection Of Cancer ◽  
Elderly Population ◽  
Past History ◽  
Elderly Subjects ◽  
P Value ◽  
Negative Experiences ◽  
Positive History ◽  
History Of ◽  
National Trends ◽  
History Of Cancer

ABSTRACT Objective To evaluate the perception of elderly population about cancer, correlating it with the clinical variables sex, age and past history of cancer. Methods The sample was composed of 300 individuals, 174 (58%) women. A questionnaire containing ten questions and based on the Health Information National Trends Survey was used. For statistical analysis, a p value <0.05 was considered significant. Results Individuals aged 80 years and older were more likely to believe that regular tests can identify cancer in early stages, compared to elderly aged under 80 years (OR: 0.103; CI95%: 0.021-0.499; p=0.005). Elderly subjects with positive history of cancer were more likely to believe that few people survive cancer, compared to those who never had the disease (OR: 0.379; CI95%: 0.167-0.858; p=0.02). All patients with a positive history of cancer believed that early-detected cancer can be cured. Conclusion Aged individuals with ≥80 years or older believed in regular exams as a form of early detection of cancer, probably due to the greater frequency of medical instructions. Subjects who had cancer believed that few people survive the disease, perhaps because of the negative experiences they have experienced. Considering the greater presence of fatalistic perceptions, this group constitutes a potential target for educational approaches about cancer.

Hereditary Cleft Lip/Palate and Wilms Tumor: A Rare Association

2002 ◽  
Vol 39 (3) ◽  
pp. 376-379 ◽  
Author(s):  
Chung-Chih Yu ◽  
Fen-Hwa Wong ◽  
Lun-Jou Lo ◽  
Yu-Ray Chen
Keyword(s):  
Cleft Lip ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Surgical Excision ◽  
Abdominal Tumor ◽  
Facial Cleft ◽  
Rare Association ◽  
Two Generations ◽  
Cleft Lip Palate ◽  
History Of

Objective: The association of cleft lip/palate (CLP) with other anomalies is not uncommon, but its association with Wilms tumor (WT) is very rare, especially in a familial pattern. In this report, we present a family in which six members in two generations were affected with CLP, WT, or both. Patients and Results: A male patient presented with right complete CLP. He had a family history of facial cleft and abdominal tumor. Lip repair was performed at 3 months of age. An abdominal mass was noticed at 12 months of age, which proved to be WT. Surgical excision of the tumor and chemotherapy were conducted. He subsequently underwent palate repair. His father had an unrepaired microform cleft lip. Three of his aunts were known to have similar problems: one had both facial cleft and WT, one had WT only, and the other had facial cleft only. One of his cousins also was affected with WT. Conclusions: This is a unique family affected with a rare association of CLP and WT. Pedigree study revealed an autosomal dominant hereditary pattern.

Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer

2018 ◽  
Vol 80 ◽  
pp. S178-S181 ◽  
Author(s):  
Anthony H. Bui ◽  
Ayisha Ayub ◽  
Mairaj K. Ahmed ◽  
Emanuela Taioli ◽  
Peter J. Taub
Keyword(s):  
Family History ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

scholarly journals Risk Factors of Congenital Anomalies in South Sumatera Indonesia

2020 ◽  
Vol 4 (4) ◽  
pp. 60-69
Author(s):  
Ziske Maritska ◽  
Theofilus Aswadi
Keyword(s):  
Risk Factors ◽  
Passive Smoking ◽  
Congenital Anomalies ◽  
Neonatal Death ◽  
Cleft Lip ◽  
Circulatory System ◽  
Maternal Diabetes ◽  
Cross Sectional ◽  
Cleft Lip Palate ◽  
History Of

Abstract   Introduction. Congenital anomaly is one of the leading causes of neonatal death. It is the third leading cause of neonatal death in Indonesia. More than half of all congenital anomalies can’t be related to a specific cause, suggesting multiple risk factors. This study aims to identify patterns and risk factors of congenital anomalies in RSUP Dr. Mohammad Hoesin Palembang. Methods. This observational descriptive study with a cross-sectional design used 100 patients’ medical records, taken at RSUP Dr. Mohammad Hoesin Palembang, as samples. Missing data were complemented with a phone interview. Samples were picked using a proportional random sampling method. Collected data were counted within each category of congenital anomalies. Results. There were 366 neonatal patients diagnosed with congenital anomalies at RSUP Dr. Mohammad Hoesin Palembang in 2015. The most prevalent (44,8%) congenital anomalies belonged to congenital anomalies of the digestive system, followed by congenital anomalies of the circulatory system (18,6%), and cleft lip/palate (11,5%). Following risk factors were found: the history of maternal active or passive smoking (41%), maternal exposure to chemicals or solvents (31%), family member with congenital anomalies of the same category (27%), maternal drug consumption (26%), maternal infection (22%), maternal diabetes mellitus (4%), and maternal hypertension (4%). Conclusion. History of maternal active or passive smoking was the most frequently found risk factors among patients of congenital anomalies.

Sign in / Sign up

Export Citation Format

Share Document