scholarly journals Non-syndromic oral clefts and risk of cancer: a systematic review

2013 ◽  
Vol 1 (1) ◽  
pp. 12-18 ◽  
Author(s):  
Daniela Araújo Veloso Popoff ◽  
Mateus Prates Coelho ◽  
Daniella Reis Barbosa Martelli ◽  
Rajiv Saini ◽  
Ricardo Della Coletta ◽  
...  
Keyword(s):  
Family History ◽  
Cleft Lip ◽  
Molecular Mechanisms ◽  
Cleft Lip And Palate ◽  
Data Extraction ◽  
Cochrane Collaboration ◽  
Oral Clefts ◽  
Final Sample ◽  
Increased Risk ◽  
Risk Of Cancer

Objective: To discuss the risk of cancer among relatives of individuals with cleft lip and palate (CL/P), as well as the risk of CL/P among relatives of individuals with cancer, since studies published currently have suggested  an increased risk of cancer among relatives of cleft individuals. Design: A systematic literature review was carried out in accordance with the Cochrane Collaboration Group protocol, including literature search strategy, selection of papers through the inclusion and exclusion criteria, data extraction and quality assessment. PubMed, Scopus and ISI - Web of Science databases were systematically searched using the fallowing search strings: “cleft lip and palate” AND “cancer”, “oral clefts” AND “cancer” and “orofacial clefts” AND “cancer”. Results: From 653 studies accessed, 8 comprised the final sample: 6 investigating CL/P index cases and their family history of cancer and 2 investigating individuals with cancer and their family history for CL/P. The sample sizes were not homogeneous. Oral clefts, the type of cancer and the degree of kinship family were not categorized in all studies. Leukemia, breast cancer and colon cancer were the most cited types, even as first-and-second degree relatives. Conclusions: An increased risk of cancer among relatives of cleft individuals could not be entirely confirmed. However, studies with this specific purpose suggest that first-and-second degrees relatives of cleft individuals have some types of cancer more often than unexposed families, highlighting that future studies should expand their samples to investigate possible common molecular mechanisms that allow relating oral clefts and cancer.

scholarly journals Trends in Enteral Access Placement Among Patients With Oral Clefts: Evaluation of 46 617 Patient Admissions

2018 ◽  
Vol 56 (1) ◽  
pp. 21-30
Author(s):  
Thanapoom Boonipat ◽  
Nicholas S. Adams ◽  
Allen L. Shoemaker ◽  
Robert J. Mann ◽  
John W. Polley ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Enteral Feeding ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Complication Rates ◽  
Oral Clefts ◽  
Patient Admissions ◽  
Increased Risk ◽  
Enteral Access ◽  
Isolated Cleft Palate

Objective: It is well known that patients with oral clefts have challenges with feeding. Enteral feeding access, in the form of gastrostomy, is often utilized to supplement or replace oral intake. Although commonly performed, these procedures have reported complication rates as high as 83%. We intend to discover rates of enteral access in patients with oral clefts and report-related outcomes. Design: The Healthcare Cost Utilization Project Kids’ Inpatient Database from 2000 to 2012 was analyzed using patients with oral clefts and enteral access procedures. The χ2 test was used for univariate analyses of proportions, and linear regression was used to analyze trends. Multivariate logistic regression was used to analyze odds ratios. Results: Of the 46 617 patient admissions included, 14.6% had isolated cleft lip (CL), 51.7% cleft lip and palate (CLP), and 43.7% isolated cleft palate. The rates of enteral access in the oral cleft population increased from 3.7% in 2000 to 5.8% in 2012 ( P < .001). Increased rates were identified in patients with ( P = .019) and without ( P < .001) complex conditions. A significant increase in the rate of enteral access was seen in patients with CLP ( P < .001) and isolated cleft palate ( P < .001). No difference was seen in the isolated CL group ( P = .096). Patients with complex conditions were at a 4.4-fold increased risk and those admitted to urban, teaching hospitals were at a 4.7-fold risk of enteral access placement. Conclusions: The rates for enteral feeding access increased significantly from 2000 to 2012. The reasons for the increased incidence are unclear. Invasive enteral access procedures have been shown to have a multitude of complications. Careful patient selection should be done before placement of invasive enteral access.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic

2021 ◽  
pp. 105566562110698
Author(s):  
Kristaninta Bangun ◽  
Jessica Halim ◽  
Vika Tania
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Surgical Techniques ◽  
Chromosome 17 ◽  
Long Term Effects ◽  
Surgical Strategies ◽  
Increased Risk ◽  
The Cost

Chromosome 17 duplication is correlated with an increased risk of developmental delay, birth defects, and intellectual disability. Here, we reported a female patient with trisomy 17 on the whole short arm with bilateral complete cleft lip and palate (BCLP). This study will review the surgical strategies to reconstruct the protruding premaxillary segment, cleft lip, and palate in trisomy 17p patient. The patient had heterozygous pathogenic duplication of chromosomal region chr17:526-18777088 on almost the entire short arm of chromosome 17. Beside the commonly found features of trisomy 17p, the patient also presented with BCLP with a prominent premaxillary portion. Premaxillary setback surgery was first performed concomitantly with cheiloplasty. The ostectomy was performed posterior to the vomero-premaxillary suture (VPS). The premaxilla was firmly adhered to the lateral segment and the viability of philtral flap was not compromised. Two-flap palatoplasty with modified intravelar veloplasty (IVV) was performed 4 months after. Successful positioning of the premaxilla segment, satisfactory lip aesthetics, and vital palatal flap was obtained from premaxillary setback, primary cheiloplasty, and subsequent palatoplasty in our trisomy 17p patient presenting with BLCP. Postoperative premaxillary stability and patency of the philtral and palatal flap were achieved. Longer follow-up is needed to evaluate the long-term effects of our surgical techniques on inhibition of midfacial growth. However, the benefits that the patient received from the surgery in improving feeding capacity and facial appearance early in life outweigh the cost of possible maxillary retrusion.

scholarly journals MOLECULAR GENETIC STUDY OF THE IMPACT OF SNP C677T OF THE GENE MTHFR IN THE DEVELOPMENT OF CONGENITAL ISOLATED CLEFT LIP AND PALATE

2018 ◽  
Vol 25 (5) ◽  
pp. 104-110
Author(s):  
V. S. Uchaeva ◽  
Yu. A. Vasiliev ◽  
A. S. Gracheva ◽  
O. V. Gulenko ◽  
I. G. Udina
Keyword(s):  
Genetic Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
Population Genetic Study ◽  
Molecular Genetic Study ◽  
Increased Risk ◽  
Significant Difference ◽  
Congenital Cleft ◽  
The Impact

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype. 

Greater Palatal Cleft Width Predicts an Increased Risk for Unfavorable Outcomes in Cleft Palate Repair

2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
University Hospital ◽  
Velopharyngeal Insufficiency ◽  
Secondary Surgery ◽  
Increased Risk ◽  
Cleft Palate Repair ◽  
The Impact ◽  
Nasal Emission

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.

scholarly journals Fluoride Exposure Induces Inhibition of Sodium-and Potassium-Activated Adenosine Triphosphatase (Na+, K+-ATPase) Enzyme Activity: Molecular Mechanisms and Implications for Public Health

2019 ◽  
Vol 16 (8) ◽  
pp. 1427 ◽  
Author(s):  
Declan Timothy Waugh
Keyword(s):  
Enzyme Activity ◽  
Atpase Activity ◽  
Molecular Mechanisms ◽  
Chemical Elements ◽  
Biological Pathways ◽  
Normal Brain ◽  
Biological Interface ◽  
Increased Risk ◽  
And Function ◽  
Risk Of Cancer

In this study, several lines of evidence are provided to show that Na + , K + -ATPase activity exerts vital roles in normal brain development and function and that loss of enzyme activity is implicated in neurodevelopmental, neuropsychiatric and neurodegenerative disorders, as well as increased risk of cancer, metabolic, pulmonary and cardiovascular disease. Evidence is presented to show that fluoride (F) inhibits Na + , K + -ATPase activity by altering biological pathways through modifying the expression of genes and the activity of glycolytic enzymes, metalloenzymes, hormones, proteins, neuropeptides and cytokines, as well as biological interface interactions that rely on the bioavailability of chemical elements magnesium and manganese to modulate ATP and Na + , K + -ATPase enzyme activity. Taken together, the findings of this study provide unprecedented insights into the molecular mechanisms and biological pathways by which F inhibits Na + , K + -ATPase activity and contributes to the etiology and pathophysiology of diseases associated with impairment of this essential enzyme. Moreover, the findings of this study further suggest that there are windows of susceptibility over the life course where chronic F exposure in pregnancy and early infancy may impair Na + , K + -ATPase activity with both short- and long-term implications for disease and inequalities in health. These findings would warrant considerable attention and potential intervention, not to mention additional research on the potential effects of F intake in contributing to chronic disease.

scholarly journals Mortality and Risk of Cancer After Prophylactic Bilateral Oophorectomy in Women With a Family History of Cancer

2018 ◽  
Vol 2 (3) ◽  
Author(s):  
Julie Abildgaard ◽  
Magnus Glindvad Ahlström ◽  
Gedske Daugaard ◽  
Dorte Lisbet Nielsen ◽  
Anette Tønnes Pedersen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Rate Ratio ◽  
Bilateral Oophorectomy ◽  
Family History Of Cancer ◽  
Increased Risk ◽  
History Of ◽  
Risk Of Cancer ◽  
The Impact ◽  
History Of Cancer

Abstract Background Current international guidelines recommend systemic hormone therapy (HT) to oophorectomized women until the age of natural menopause. Despite an inherited predisposition to estrogen-dependent malignancies, the guidelines also apply to women oophorectomized because of a family history of cancer. The objective of this study was to investigate the impact of HT on mortality and risk of cancer in women oophorectomized because of a family history of cancer. Methods A nationwide, population-based cohort was used to study women oophorectomized because of a family history of cancer (n = 2002). Comparison cohorts included women from the background population individually matched on age (n = 18 018). Oophorectomized women were subdivided into three groups: oophorectomized at 1) age 45 years or younger not using HT, 2) age 45 years or younger using HT, 3) older than age 45 years, and their respective population comparison cohorts. Results Women oophorectomized at age 45 years or younger using HT had increased overall mortality (mortality rate ratio [MRR] = 3.45, 95% confidence interval [CI] = 1.53 to 7.79), mortality because of cancer (MRR = 5.67, 95% CI = 1.86 to 17.34), and risk of overall cancer (incidence rate ratio [IRR] = 3.68, 95% CI = 1.93 − 6.98), primarily reflected in an increased risk of breast cancer (IRR = 4.88, 95% CI = 2.19 − 10.68). Women oophorectomized at age 45 years or younger not using HT and women oophorectomized at older than age 45 years did not have increased mortality, mortality because of cancer, or risk of overall cancer, but they had increased risk of breast cancer (IRR = 2.64, 95% CI = 1.14 to 6.13, and IRR = 1.72, 95% CI = 1.14 to 2.59, respectively). Conclusions Use of HT in women oophorectomized at age 45 years or younger with a family history of cancer is associated with increased mortality and risk of overall cancer and breast cancer. Our study warrants further investigation to establish the impact of HT on mortality and cancer risk in oophorectomized women with a family history of cancer.

Association Between Nonsyndromic Cleft Lip and Palate and 2 Polymorphic Loci: A Meta-Analysis

2020 ◽  
pp. 105566562096268
Author(s):  
Yusi Wang ◽  
Xueyuan Jia ◽  
Yuandong Qiao ◽  
Lidan Xu ◽  
Xuelong Zhang ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Cleft Lip And Palate ◽  
Meta Analysis ◽  
Craniofacial Development ◽  
Asian Group ◽  
Potential Association ◽  
Increased Risk ◽  
The Relationship

Objectives: The relationship between Noggin ( NOG) and methylenetetrahydrofolate reductase and nonsyndromic cleft lip and palate (NSCLP) has been reported participate in craniofacial development but need further evidence. To indicate the susceptibility between the 2 genes and NSCLP, rs227731 and rs1801131 polymorphisms were included in the present research. This research may provide some genetic clues for disease detection and surveillance. Design: Seventeen studies including 4023 cases and 5691 controls were provided for meta-analysis, and odds ratio (OR) with 95% CI were obtained to estimate NSCLP risk. Results: Our analysis suggested potential association of rs227731C on increasing the risk of NSCLP in the Caucasian group and total group but not Asian group under all models: allele (OR = 1.45, 95% CI = 1.21-1.75, P < .0001), homozygote (OR = 2.03, 95% CI = 1.42-2.90, P < .0001), heterozygote (OR = 1.44, 95% CI = 1.19-1.73, P = .0001), dominant (OR = 1.61, 95% CI = 1.27-2.04, P < .0001), and recessive models (OR = 1.63, 95% CI = 1.25-2.12, P = .0003). Besides, increased risk is related to rs1801131 in Asian group under 3 models: allele (OR = 1.24, 95% CI = 1.06-1.44, P = .006), heterozygote (OR = 1.24, 95% CI = 1.02-1.52, P = .03), and dominant models (OR = 1.29, 95% CI = 1.06-1.56, P = .009). Conclusions: Our analysis indicates polymorphisms rs227731 and rs1801131 are associated with NSCLP, with predominance of different ethnic group and deepen understanding of NSCLP.

Risk of cancer in relatives of children born with isolated cleft lip and palate

2012 ◽  
Vol 158A (6) ◽  
pp. 1503-1504 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Shahryar Khaliq ◽  
Baiba Lace
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Risk Of Cancer

scholarly journals Future of environmental research in the age of epigenomics and exposomics

2017 ◽  
Vol 32 (1-2) ◽  
pp. 45-54 ◽  
Author(s):  
Nina Holland
Keyword(s):  
Public Health ◽  
Molecular Mechanisms ◽  
Environmental Research ◽  
Whole Body ◽  
Epigenetic Mechanisms ◽  
Multifactorial Diseases ◽  
Adverse Health Outcomes ◽  
Increased Risk ◽  
Susceptible Populations ◽  
Risk Of Cancer

Abstract Environmental research and public health in the 21st century face serious challenges such as increased air pollution and global warming, widespread use of potentially harmful chemicals including pesticides, plasticizers, and other endocrine disruptors, and radical changes in nutrition and lifestyle typical of modern societies. In particular, exposure to environmental and occupational toxicants may contribute to the occurrence of adverse birth outcomes, neurodevelopmental deficits, and increased risk of cancer and other multifactorial diseases such as diabetes and asthma. Rapidly evolving methodologies of exposure assessment and the conceptual framework of the Exposome, first introduced in 2005, are new frontiers of environmental research. Metabolomics and adductomics provide remarkable opportunities for a better understanding of exposure and prediction of potential adverse health outcomes. Metabolomics, the study of metabolism at whole-body level, involves assessment of the total repertoire of small molecules present in a biological sample, shedding light on interactions between gene expression, protein expression, and the environment. Advances in genomics, transcriptomics, and epigenomics are generating multidimensional structures of biomarkers of effect and susceptibility, increasingly important for the understanding of molecular mechanisms and the emergence of personalized medicine. Epigenetic mechanisms, particularly DNA methylation and miRNA expression, attract increasing attention as potential links between the genetic and environmental determinants of health and disease. Unlike genetics, epigenetic mechanisms could be reversible and an understanding of their role may lead to better protection of susceptible populations and improved public health.

scholarly journals Does Early Repair of Cleft Lip Helps to Reduce the Cleft Alveolar and Palatal Gap in Unilateral Complete Cleft Lip - Palate Patients?

2014 ◽  
Vol 13 (3) ◽  
pp. 46-49
Author(s):  
Kazi Md Noor-ul Ferdous ◽  
Md Mafuzul Haq ◽  
S M Mashfiqur Rahman ◽  
Sabbir Karim ◽  
Md Mahabubul Alam ◽  
...  
Keyword(s):  
Family History ◽  
Postoperative Complications ◽  
Hard Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Positive Family History ◽  
Fistula Formation ◽  
Cleft Lip Palate ◽  
Cleft Lip Repair ◽  
Palate Patient

Backgroud: Timing of surgery in the patients with cleft lip palate is an important factor of prognosis. Delaying in surgical repair of cleft lip and palate patient may lead to difficulty. It may causes wide, extensive and difficult dissection. There are always chances of wound infection, wound dehiscence, complete wound disruption, fistula formation, even there is also chance of maxillary hypoplasia and failure to articulate lifelong. The purpose of this study to observe the effects of cleft lip repair in early age on cleft alveolar and cleft palatal gap thus helps during cleft hard palate repair in patients with unilateral complete cleft lip and palate (UCLP). Methods: A retrospective study was done from January 2008 to July 2013. Patients with unilateral complete cleft lip and palate included in this study, who under went cleft lip at first admission and then and after 3 months of cleft palate was repaired. Patients with previous cleft lip-palate surgery were excluded. The gaps of cleft alveolus and posterior border of the cleft hard palate were recorded during 1st and 2nd operations. Age, gender, side of the cleft, associated anomalies, family history of cleft, cleft alveolar and cleft palatal gap noted, postoperative complications were also recorded. All the data were Results: A total of 63 patients included in this study. Age ranged from 4 months to 8 years. 38 patients were male and 25 were female. Right side was involved in 20 and 43 patients involved in left side. Eight patients had positive family history. Nine had associated congenital anomalies. Cleft alveolar and palatal gap reduced more in the patients who were below the age of 18 months. Postoperative complications were mild respiratory distress, notching of vermilion border developed oronasal fistula.Conclusion: In unilateral complete cleft lip palate patient, early cleft lip repair results, reduction of gaps of alveolar cleft and that of hard palate remarkably, especially in the patients who came for cleft lip surgery in appropriate time.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i3.21023

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