The aim of this study was to investigate the effect of environmental factors, such as tobacco, alcohol and folic acid intake, obesity, stressful events, low blood levels of zinc and fever during pregnancy, on the incidence of cleft lip and/or palate (CL±P). An electronic search was performed in the Cochrane Reviews, the ISI Web of Knowledge, PubMed and Scopus, along with a manual search to identify other relevant case-control and cohort studies. Quality assessments and an evaluation of publication bias were undertaken. Statistical heterogeneity was examined, and odds ratios (ORs) and 95% confidence intervals (CI) estimated using the random effects model. Of 372 articles initially retrieved, 28 studies were selected as eligible for meta-analysis. No evidence of publication bias was found using funnel plot analysis and the Egger linear regression method. Many studies were classified as low quality due to inadequate case-control data. On the basis of this research, maternal factors most associated with CL±P were: tobacco (OR 1.48), alcohol (OR 1.28), folic acid intake (OR 0.77), obesity (OR 1.26), stressful events (OR 1.41), low blood zinc levels (OR 1.82), and fever during pregnancy (OR 1.30). Folic acid intake by the mother reduced the risk of CL±P in offspring (OR 0.77).
[Show abstract][Hide abstract] ABSTRACT: We have analysed the predictors of postoperative complications and the need for reoperation after grafting of the alveolar cleft from one specialised cleft centre. The data were obtained from hospital casenotes of patients operated on from December 2004 to April 2010, with a minimum one-year follow-up from the final operation. Independent variables included postoperative complications and the need for reoperation. Conditional variables were sex, age, type of cleft, sides affected, donor area, type of graft material, and the presence of an erupted tooth in contact with the cleft. A total of 71 patients had bone grafted on to the alveolar cleft. The following associations were found to be significant: postoperative complications and need for reoperation (p=0.003); age and complications (p=0.002); affected side and complications (p=0.006); age and reoperation (p=0.000); sex and reoperation (p=0.001); and type of cleft and reoperation (p=0.001). Proper attention should be given to all the variables and risk factors to overcome the many obstacles that might have an adverse influence on a successful outcome of alveolar bone grafting for patients with clefts.
British Journal of Oral and Maxillofacial Surgery 11/2013; 52(2). DOI:10.1016/j.bjoms.2013.11.001 · 1.08 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Orofacial clefts (OFCs) include a broad range of facial conditions that differ in cause and disease burden. In the published literature, there is substantial ambiguity in both terminology and classification of OFCs. This article discusses the terminology and classification of OFCs and the epidemiology of OFCs. Demographic, environmental, and genetic risk factors for OFCs are described, including suggestions for family counseling. This article enables clinicians to counsel families regarding the occurrence and recurrence of OFCs. Although much of the information is detailed, it is intended to be accessible to all health professionals for use in their clinical practices.
Clinics in plastic surgery 04/2014; 41(2):149-163. DOI:10.1016/j.cps.2013.12.003 · 0.91 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested.
Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM).
We found that two polymorphic variants of PAH appear to be risk factors for NSCL/P. The odds ratio (OR) for individuals with the rs7485331 A allele (AC or AA) compared to CC homozygotes was 0.616 (95% confidence interval [CI]=0.437-0.868; p=0.005) and this association remains statistically significant after multiple testing correction. The PAH rs12425434, previously associated with schizophrenia, was borderline associated with orofacial clefts. Moreover, haplotype analysis of polymorphisms in the PAH gene revealed a 4-marker combination that was significantly associated with NSCL/P. The global p-value for a haplotype comprised of SNPs rs74385331, rs12425434, rs1722392, and the mutation rs5030858 was 0.032, but this association did not survive multiple testing correction.
This study suggests the involvement of the PAH gene in the aetiology of NSCL/P in the tested population. Further replication will be required in separate cohorts to confirm the consistency of the observed association.
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