Search results for "PALATE"

Significant association of MTHFD1 1958GA single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.

2014

Objectives: 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 dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology. Study Design: The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample …

Supravital Uptake of Methylene Blue by Dendritic Cells within Stratified Squamous Epithelia: a Light and Electron Microscope Study

1996

Electron microscopic data on methylene blue staining of dendritic cells in the epithelia of the soft palate and skin of the mouse after supravital dye injection are presented. The ultra-structural details were compared with corresponding light microscopic findings. Methylene blue stained tissue was fixed by immersion in a paraformaldehyde-glutaraldehyde solution containing phosphomolybdic acid. The ensuing dye precipitate was stabilized by ammonium heptamolybdate. The light microscopic investigation revealed that selective staining of dendritic cells depended on the presence of ambient oxygen. In addition, delicate morphological characteristics, like spinous structures of the dendrites, wer…

Comparative study of upper lip frenectomy with the CO2 laser versus the Er, Cr:YSGG laser

2012

Objectives: To compare upper lip frenulum reinsertion, bleeding, surgical time and surgical wound healing in frenectomies performed with the CO2 laser versus the Er, Cr:YSGG laser. Study design: A prospective study was carried out on 50 randomized pediatric patients who underwent rhomboidal resection of the upper lip frenulum with either the CO2 laser or the Er,Cr:YSGG laser. Twenty-five patients were assigned to each laser system. All patients were examined at 7, 14, 21 days and 4 months after the operation in order to assess the surgical wound healing. Results: Insertion of the frenulum, which was preoperatively located between the upper central incisors, migrated to the mucogingival junc…

2019

Extracardiac adult rhabdomyoma is a rare benign tumor, which mainly occurs in the head and neck region and originates from striated muscle tissue. We report a 64-year-old male with simultaneous diagnosis of three adult rhabdomyomas including the soft palate and performed a review the literature on multifocal adult rhabdomyoma (mARM). Including the present case, 27 mARM with a range of 2-7 lesions per patient were collected. Mean age at diagnosis was 65 years with a male (23) to female (4) ratio of 5.75:1. Common localizations were parapharyngeal space (35%), larynx (14%), submandibular (13%), paratracheal region (14%), tongue (10%), floor of mouth (9%), neck (3%) and soft palate (2%). In ac…

Soft palate preservation after tumor resection with transoral laser microsurgery

2012

Background: Management and preservation of the soft palate is dependent on clinical stage and tumor histology. However, available literature is scarce regarding the palate preservation with the use of laser CO 2 . Objectives : We report the results obtained after management with laser surgery and soft palate preservation in three patients with salivary gland neoplasms. Method: Three patients with minor salivary gland tumors were treated by means of transoral laser microsurgery. All tumors were assessed using magnetic resonance imaging. All tumors were >3 cm. Soft palate function was preserved and reconstruction was performed with primary closure. Patients began oral feeding the same day and…

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

2020

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.

New insights from GWAS for the cleft palate among han Chinese population

2016

Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering trans…

Two- and three-dimensional evaluation of the upper airway after bimaxillary correction of Class III malocclusion

2009

Objective The aim the study was to evaluate area and volumetric changes in the upper airway after bimaxillary correction of Class III malocclusion by the means of computer tomography (CT), and to compare these to the changes in linear measurements from lateral cephalograms. Study design This was a prospective clinical trial. Lateral cephalograms and CT scans of 10 Class III patients were evaluated 1 week before and 6 months after surgery. Wilcoxon matched pairs signed ranks test was used to determine the differences in measurements pre- and postoperatively. Spearman's rank correlation was used to test the association between the CT and cephalometric measurements. Results CT measurements: Th…

BMP7 Gene involved in nonsyndromic orofacial clefts in western han Chinese

2015

Background: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. Material and Methods: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese. Five tagSNPs at BMP7, rs12438, rs6099486, rs6127973, rs230188 and rs6025469 were picked and tried to cover the entir…

Is PRP useful in alveolar cleft reconstruction? Platelet-rich plasma in secondary alveoloplasty

2009

Objective: Cleft lip and palate is a congenital facial malformation with an established treatment protocol. Mixed dentition period is the best moment for correct maxillary bone defect with an alveoloplasty. The aim of this surgical procedure is to facilitate dental eruption, re-establish maxillary arch, close any oro-nasal communication, give support to nasal ala, and in some cases allow dental rehabilitation with osteointegrated implants. Study design: Twenty cleft patients who underwent secondary alveoloplasty were included. In 10 of them autogenous bone graft were used and in other 10 autogenous bone and platelet-rich plasma (PRP) obtained from autogenous blood. Bone formation was compar…