OBJECTIVE Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenas...

BACKGROUND Although the prevalence of oral clefts in China is among the highest in countries worldwide, little is known about its descriptive epidemiology. METHODS Data used in this study were collected from 1996 to 2005 using the nationwide hospital-based registry, the Chinese Birth Defects Monitoring Network. A total of 4,891,472 newborns (live or still births with 28 weeks of gestation or ...

OBJECTIVE Past studies of cigarette smoking as a contributor to orofacial clefts and neural tube defects (NTDs) used self-reports of smoke exposures. We have correlated measurements of cotinine (a nicotine metabolite) in mid-pregnancy sera with clefts and NTDs. STUDY DESIGN From a repository of >180 000 mid-pregnancy serum specimens collected in California from 2003 to 2005 and linked to deli...

Orofacial clefts (OFC) are complex birth defects. Studies using contemporary genomic techniques, bioinformatics, and statistical analyses have led to appreciable advances in identifying the causes of syndromic forms of clefts. This commentary gives an overview of the important cleft gene discoveries found using various genomic methods and tools.

BACKGROUND Nonsyndromic oral clefts are complex in cause and have multiple genetic and environmental risk factors. This retrospective, questionnaire-based, case-control study investigated the relationship between oral clefts and parental mental and physical health and social support. METHODS Three hundred forty-seven parents of children with nonsyndromic oral clefts and 420 controls were incl...

Aim: We present a novel surgical technique for repair of persistent and symptomatic cyclodialysis clefts refractory to conservative or minimally invasive treatment. Background: Numerous surgical techniques have been described to close cyclodialysis clefts. The current standard approach involves intraocular repair of cyclodialysis clefts underneath a full-thickness scleral flap. Technique: Our t...

Modern views on embryology have increased our understanding of the nature of oblique facial clefts. The anomalies that have their origin at the junction of facial processes, such as the nasomaxillary dysplasias, may be named primary clefts or transformation. The maxillary clefts that are due to a developmental arrest of the skeleton are in fact secondary defects of differentiation defects. The ...

BACKGROUND The embryologic fusion planes might be related with the sites of onset of basal cell carcinoma (BCC), thus supporting an embryologic role for its pathogenesis. METHODS A study involving 495 patients with 627 BCCs of the head and neck was carried out over a period of 5 years by correlating the distribution of all BCCs with the sites of congenital clefts of the head and neck using (1...

In the current study, the three-dimensional (3D) topologies of dyadic clefts and associated membrane organelles were mapped in mouse ventricular myocardium using electron tomography. The morphological details and the distribution of membrane systems, including transverse tubules (T-tubules), junctional sarcoplasmic reticulum (SR) and vicinal mitochondria, were determined and presumed to be cruc...

During the intraerythrocytic development of Plasmodium falciparum, the malaria parasite remodels the host cell cytosol by inducing membranous structures termed Maurer's clefts and inserting parasite proteins into the red blood cell cytoskeleton and plasma membrane. Pf332 is the largest known asexual malaria antigen that is exported into the red blood cell cytosol where it associates with Maurer...