Search results for "Clef"
showing 10 items of 74 documents
Acoustic Airway Profiles in Unilateral Cleft Palate Patients
1999
Objective: This study investigates the nasal airway in unilateral cleft palate patients by means of a noninvasive, objective diagnostic method that provides topographic information about the airway profile. Design: A consecutive sample of patients was measured. Setting: Cleft palate rehabilitation center of the University of Mainz, Germany. Patients: Forty-nine subjects were investigated: 34 full-grown patients with complete unilateral cleft lip and palate and 15 controls with subjective normal nasal patency. Intervention: A transnasal series of three acoustic measurements of nasal volume was performed per nostril; measurements were taken both before and after decongestion with 0.3 mg xylom…
Evidence for transforming growth factor-beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
2011
Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from t…
Utilization of pedicled buccal fat pads for coverage of the lateral relaxing wound: A review of literature and a case series of 15 patients
2018
Background The buccal fat pad (BFP) is an encapsulated mass originated from a specific fat tissue in various volume throughout the life of each person and BFP has been used in various surgeries as a source of useful graft material due to its easy accessibility and rich vascularization. Case Report This report describes fifteen patients who were treated with buccal fat pads (BFP) as a pedicled graft for lateral relaxing wound closure in primary cleft palate surgery. A review of relevant literature is also presented. Results All patients had a mean follow-up of 3.7 weeks with a minimum follow-up time of three weeks and a maximum follow-up of four weeks. All patients who had an uneventful imme…
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
2022
Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare, it is most often syndromic in etiology. Case presentation Clinical management of a female newborn with oromaxillofacial abnormities (synechiae, cleft palate, craniofacial dysmorphisms, dental anomaly) and extraoral malformations (skinfold overlying the nails of both halluces, syndactyly, abnormal external genitalia) is presented. The associated malformations addressed to molecular genetic invest…
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…
Objective, Noninvasive Evaluation of Velopharyngeal Function in Cleft and Noncleft Patients
1998
Objective The purpose of this study was to investigate a new diagnostic method that provides an approach to noninvasive, objective measurement of velopharyngeal movement by acoustic determination of epipharyngeal volume changes with velopharyngeal muscle function. Design This was a case control study, using consecutive samples. Setting This study took place at the Cleft Palate Rehabilitation Center of the University of Mainz, Germany. Patients Subjects were 29 consecutive cleft lip and palate (CLP) patients and 31 controls (21 patients with dysgnathia and 10 healthy volunteers). Intervention A series of transnasal acoustic measurements (pressure wave: 55 dB for 2 milliseconds) of epipharyng…
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 …
Some Results Using Different Approaches to Merge Visual and Text-Based Features in CLEF’08 Photo Collection
2009
This paper describes the participation of the MIRACLE team at the ImageCLEF Photographic Retrieval task of CLEF 2008. We succeeded in submitting 41 runs. Obtained results from text-based retrieval are better than content-based as previous experiments in the MIRACLE team campaigns [5, 6] using different software. Our main aim was to experiment with several merging approaches to fuse text-based retrieval and content-based retrieval results, and it happened that we improve the text-based baseline when applying one of the three merging algorithms, although visual results are lower than textual ones.
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…