Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families

ConclusionNeither of these candidate genes has previously been associated with oral clefts and, if confirmed as contributing to disease risk, may indicate novel biological pathways in the genetic etiology for oral clefts. Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. In this study, we analyze whole exome and whole genome sequence data to identify enrichment of nonsynonymous and potentially damaging rare variants in two genes: CASP9 and FAT4.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Authors: Pramono LA, Yuwono A Abstract Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low....
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research
CONCLUSIONS: The results obtained in primary articles are promising but have a high risk of bias and have low quality of evidence; therefore, it is necessary to conduct controlled clinical trials with a greater number of patients to recommend the use of rhBMP-2 in the treatment of the alveolar cleft. PROSPERO registration number: CRD42018077741. PMID: 31698953 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
This article outlines in detail a digital method of fabricating the PNAM appliance using a combination of intraoral scans, computer-assisted digital software, and computer-assisted machining, facilitated by milling machines. This process obviates impression making and the subsequent laboratory procedures. PMID: 31698948 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Conclusion: This meta-analysis indicates that MTHFR 1298A > C polymorphism may not contribute to NSCL ± P risk in overall. However, the MTHFR 1298A > C polymorphism was significantly associated with an increased risk of NSCL ± P in Asians and Iranian populations. PMID: 31682771 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
Conditions:   Cleft Lip and Nose;   Nasal Obstruction Intervention:   Procedure: Surgical repair for nasal obstruction Sponsors:   Duke University;   National Institute of Dental and Craniofacial Research (NIDCR) Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
DiscussionThis systematic review may provide sufficient data to inform the development of a screening tool to predict the risk of velopharyngeal insufficiency prior to cleft palate repair. However, it is anticipated that these findings will provide the foundation for future studies in this area.Systematic review registrationRegistered on 19 December 2016 with PROSPEROCRD42017051624
Source: Systematic Reviews - Category: International Medicine & Public Health Source Type: research
PMID: 31690098 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Publication date: Available online 2 November 2019Source: Brazilian Journal of OtorhinolaryngologyAuthor(s): Harpreet Singh, Raj Kumar Maurya, Poonam Sharma, Pranav Kapoor, Tanmay Mittal, Mansi AtriAbstractIntroductionThe association between the treatment of transverse maxillary deficiency and the recovery of hearing and voice functions has gained attention in recent years.ObjectiveThis prospective controlled trial aimed to evaluate the effects of rapid maxillary expansion on hearing and voice function in children with non-cleft lip palate and bilateral cleft lip palate with transverse maxillary deficiencyMethods53 patien...
Source: Brazilian Journal of Otorhinolaryngology - Category: ENT & OMF Source Type: research
Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intell...
Source: Diagnostic Pathology - Category: Pathology Authors: Tags: Case Report Source Type: research
Patient dissatisfaction with labial appearance in the adult cleft lip is frequently linked to poor upper lip projection. Other areas of concern include asymmetry and impaired upper lip height. Different surgical techniques are available to address volumetric deficiencies, according to extent and localization. However, data comparing outcomes in these different areas are limited. The main aim of this study was to assess the relative gains in upper lip projection. An evaluation of upper vermilion height and symmetry was also performed.
Source: International Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Clinical Paper Source Type: research
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