Effective retropulsion and centralization of the severely malpositioned premaxilla in patients with bilateral cleft lip and palate: A novel modified presurgical nasoalveolar molding device with retraction screw

PurposeA novel, modified presurgical nasoalveolar molding (MPNAM) device with retraction screw was designed and used in patients with bilateral complete cleft lip and palate (BCCLP) to rapidly retract and centralize the protuberant and malpositioned premaxilla and correct the nasolabial and palatal deformities. The orthopedic effects and possible complications were evaluated.Patients and methodsNine patients with BCCLP who met the inclusion criteria were selected. After the maxillary model was obtained, the new MPNAM device with retraction screw was designed and worn until cheilorrhaphy. Changes in local deformities and complications were observed continuously, and the orthopedic effect was evaluated.ResultsAll patients quickly adapted to the MPNAM appliance, and the treatment was finished after 5–8 return visits. The columella was significantly prolonged, the nasal tip was elevated, and the collapsed nasal dome was obviously improved. Simultaneously, the premaxilla was rapidly retracted and rotated, and gradually centralized; the clefts were gradually reduced and closed, and a nearly normal dental arch was formed. Although there were some complications, the orthopedic treatment was continued until cheiloplasty.ConclusionsThe MPNAM device with retraction screw can simultaneously correct nasolabial and palatal deformities and also rapidly retract and centralize the premaxilla.     

5,10‐Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene–environment interaction analysis in non‐syndromic cleft lip/palate

Non‐syndromic cleft lip/palate (NSCL/P) is a common congenital defect in Mexico. Periconceptional intake of folic acid (FA) may reduce the risk of this malformation. Although the 5,10‐methylenetetrahydrofolate reductase (MTHFR) enzyme participates in folate metabolism, several studies failed to find any association between NSCL/P and the MTHFR C677T and A1298C polymorphisms. However, interactions among NSCL/P, MTHFR gene polymorphisms, and FA intake have not been explored in Mexican populations. This case–control study included 132 patients with NSCL/P and 370 controls from Mexico City. Maternal FA consumption during pregnancy was examined, as were the MTHFR C677T and A1298C polymorphisms and gene–FA interactions. Maternal FA intake during the periconceptional period was lower in cases (1.5%) than in controls (13%), with the risk of delivering a child with NSCL/P lower in mothers who consumed FA (OR = 0.29, 95% CI: 0.19–0.44). In addition, the risk of NSCL/P was lower in children with the TT than the CC genotype of MTHFR C677T (OR = 0.39, 95% CI: 0.23–0.68), after Bonferroni correction and exclusion of stratification. No evidence of gene–FA interaction was found. These results indicate that maternal FA intake and the TT genotype of the MTHFR C677T polymorphism in children independently reduced the risk of NSCL/P in our population.     

Exceptional isolated cleft of the hard palate

We describe an extremely rare type of isolated cleft of the hard palate, which extends the published classification of the Type III cleft.     

The process leading to affirmation of life with cleft lip and cleft palate: The importance of acquiring coherence

Aims: The objectives of this study were to understand the experiences of people with cleft lip and cleft palate (CLCP) and to describe the processes and factors leading to the acquisition of high self‐esteem. Methods: Semi‐structured interviews were conducted of 19 subjects with CLCP recruited via hospitals and through snowball sampling, and the results were analyzed qualitatively, comparing high and low self‐esteem groups. Results: Participants with high self‐esteem had gone through the phases of “noticing their difference from others”, “knowing about and deepening their understanding of CLCP”, “no denial of their life with CLCP” and “affirmation of life with CLCP”. Seven factor categories including “received sufficient explanation of CLCP condition (from parents) in the early stage”, “have not received negative messages about CLCP” and “feeling the presence of someone who accepts their feelings and supports them” were extracted as factors promoting these processes. Conclusions: Knowing about and understanding CLCP enables individuals to acquire a sense of coherence in their lives, which may be related to gaining a feeling of control over their cleft condition, acquiring a sense of autonomy, and finding a meaning for their lives. Thus, medical professionals should provide explanations that enable patients to understand CLCP, and also facilitate interaction between patients with the same condition.     

Mood‐induced variations of mandible and tongue postures

Twelve young adults in a good general health were observed during habitual posture of tongue and jaw in different emotional conditions induced by watching three video sequences. The position of the mandible was tracked by the displacements of an electromagnetic sensor glued to the chin. The tongue‐to‐palate distance was obtained by 2‐D location of three electromagnetic sensors placed on the tongue upper midline surface. Head displacements were evaluated with a sensor fixed to an upper central incisor and were subtracted from corresponding displacements of tongue and chin sensors to obtain the real tongue and mandible positions during continuous recording sequences. Emotional conditioning by a fear movie influenced the vertical position of the mandible: the mean interarch distances during the fear movie (2·34 ± 0·24 mm) were significantly different from those measured during the tender (3·13 ± 0·35) and neutral (3·42 ± 0·80) movies, respectively (anova repeated measure, SNK; P < 0·05). anova repeated measure indicated that the tongue‐to‐palate distance differed significantly when the subjects were watching the conditioning movies (P = 0·003), the tip of the tongue taking a lower position during the fear movie than during the tender and neutral movies.     

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Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations

Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.     

NUT carcinoma presenting in the palate – a case report

NUT carcinomas (NC) are rare and aggressive tumours characterized by chromosomal rearrangements of the gene encoding for nuclear protein of the testis (NUT) located on chromosome 15q14. This article presents a case of a 60‐year‐old woman diagnosed with NC presenting as a fast growing primary tumour in the right palate. Further evaluation revealed a tumour mass in the lungs and widespread metastases. A review of the literature did not reveal earlier cases presenting in the palate. In order to improve early diagnosis it is suggested to perform immunohistochemical testing for NUT in all poorly differentiated carcinomas without glandular differentiation arising in the chest, and head and neck (Clin Cancer Res, 18, 2012, 5773).