Folic acid can prevent neural tube defects; in some cases the mechanism is probably a correction of a metabolic defect caused by thermolabile methylenetetrahydrofolate reductase (MTHFR) found in increased frequency in cases. It is less clear whether folic acid can prevent oral clefts, in part because it is not known whether thermolabile MTHFR is more common in those with oral clefts. This study examined the prevalence of the mutation (677 C-->T) that causes thermolabile MTHFR in subjects with oral clefts from a national Irish support group, and an anonymous control group randomly selected from a neonatal screening program covering all births in Ireland. Eighty-three of 848 control subjects were homozygous (TT) thermolabile MTHFR (9.8%). This defect was almost three times as common in the 27 subjects (25.9%) with isolated cleft palate (odds ratio 3.23, 95% confidence interval 1.32 -7.86, P = 0. 02) and somewhat more common in the 66 subjects with cleft lip with or without cleft palate (15.2%, odds ratio 1.65, 95% confidence interval 0.81-3.35, P = 0.20). When the two groups with different etiologies were combined, the overall odds ratio was 2.06 (95% confidence interval 1.16-3.66, P = 0.02). In the Irish population homozygosity for the common folate-related polymorphism associated with thermolabile MTHFR is significantly more frequent in those with isolated cleft palate, and could be etiologically important. Am. J. Med. Genet. 86:71-74, 1999. Published 1999 Wiley-Liss, Inc.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Family History of Nonsyndromic Orofacial Clefts: A Brazilian Multicenter Study.
Oral Dis
January 2025
Primary Care/Health Sciences Postgraduate Program, State University of Montes Claros (Unimontes), Montes Claros, Minas Gerais, Brazil.
Objective: To summarize the evidence on the relationship between hereditary family history and nonsyndromic orofacial clefts (NSOC) in patients from various Brazilian states.
Methods: This cross-sectional multicenter study was conducted at six specialized orofacial cleft services across different regions of Brazil. The sample consisted of 1899 patients with NSOC, including cleft lip only (NSCLO), cleft palate only (NSCPO), and cleft lip and palate (NSCLP).
Oral health in patients with cleft lip and palate: a systematic literature review and meta-analysis of periodontal and dental disease and oral microbiota (part 1).
BMC Oral Health
January 2025
Dentistry and Maxillo-Facial Surgery Unit, Department of Surgery, Dentistry, Paediatrics and Gynaecology (DIPSCOMI), University of Verona, Piazzale L.A. Scuro 10, 37134, Verona, Italy.
Introduction: Orofacial cleft impacts jawbone and dental development and function, often with consequences for oral health. The first in this two-part systematic review of the literature on oral health in persons with cleft lip and/or palate focuses on periodontal parameters and composition of oral bacterial flora, while the second analyzes data on dental caries.
Materials And Methods: Four databases (PubMed, Cochrane, Scopus, Web of Science) were searched for studies that compared periodontal parameters, caries index, and microbiota composition between persons with cleft lip and/or palate and healthy controls.
Classification of speech nasality of individuals with cleft lip and palate with distinct ordinal scales.
Codas
January 2025
Programa de Pós-Graduação em Fonoaudiologia, Universidade Estadual Paulista "Júlio de Mesquita Filho" - UNESP - Marília (SP), Brasil.
Purpose: To investigate whether there is a difference in the classification of speech hypernasality by inexperienced listeners using different ordinal scales; to verify the agreement of the listeners in the analyses when using these scales; and to verify whether the order in which the scales are presented influences the results.
Methods: Twenty Speech-Language Pathology students classified the degrees of hypernasality of 40 (oral) samples from patients with cleft lip and palate. Ten performed the classifications using a 4-point scale (absent, mild, moderate, and severe) and, after two weeks, using a 3-point scale (absent, slightly hypernasal, and very hypernasal).
Riga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFA reliable and objective method of measuring soft tissue changes in 2D photographs after distraction osteogenesis in individuals with CL/P.
J Plast Surg Hand Surg
January 2025
Department of Clinical Sciences in Malmö, Lund University, Lund, Sweden; Department of Oral and Maxillofacial Surgery, Skåne University Hospital, Malmö, Sweden; Department of Orthodontics, Malmö University, Malmö, Sweden.
Pre- and postoperative photos to assess results are widely used in plastic and reconstructive surgery, for instance, in patients with cleft lip and palate (CL/P). Evaluations are often performed by assessment panels by viewing the photos. However, these are prone to be subjective.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!