Apocrine papillary cystadenoma of a minor salivary gland on the lower lip: case presentation

Cystadenomas are a rare, painless, and slow-growing benign epithelial tumor of the salivary gland. This article describes the case of a papillary cystadenoma in the lower lip of a 46-year-old man. The lesion was removed using a carbon dioxide laser, and there were no signs of recurrence 1 year postoperatively.

Reference photographs for nasolabial appearance rating in unilateral cleft lip and palate

A popular method for nasolabial rating in unilateral cleft lip and palate (UCLP) is the Asher-McDade system consisting of a 5-point ordinal scale assessing nasal form, nasal symmetry, nasal profile, and vermilion border. The aim of the current study was to identify reference photographs illustrating this scale to facilitate its use.Four observers assessed nasolabial appearance on frontal and profile photographs of the nasolabial area of 42 children of Caucasian origin with a repaired UCLP at age 9 years. Cronbachs alpha, based on the individual scores of the 4 observers, ranged from 0.73 to 0.82 for the 4 nasolabial ratings, indicating a good reliability. The reliability of the overall score (mean of the 4 component scores) was also high (Cronbachs alpha, 0.83). Both for the nasolabial component ratings and for the overall score, duplicate measurement errors were small. The reliability for the mean of the 4 observers' scores was good, Spearman rank correlation coefficients ranging from 0.56 to 0.96.Subsequently, photographs were selected that showed the highest agreement among observers. For each of the 4 components (eg, nasal form, nasal deviation, nasal profile, and shape of the vermilion border), 5 photographs were selected to illustrate the whole range of the scale (score, 1-5), resulting in the selection of 20 pictures.It was concluded that nasolabial appearance rating can be performed reliably using a panel of judges and averaging the scores of all observers. Reference photographs, as developed from this study, may facilitate the rating task.

Nasolabial esthetics in children with complete unilateral cleft lip and palate after 1- versus 3-stage treatment protocols

PURPOSE: Facial esthetics play an important role in social interactions. However, children with a repaired complete unilateral cleft lip and palate usually show some disfigurement of the nasolabial area. To date, few studies have assessed the nasolabial appearance after different treatment protocols. The aim of the present study was to compare the nasolabial esthetics after 1- and 3-stage treatment protocols. MATERIALS AND METHODS: Four components of the nasolabial appearance (nasal form, nasal deviation, mucocutaneous junction, and profile view) were assessed by 4 raters in 108 consecutively treated children who had undergone either 1-stage closure (Warsaw group, 41 boys and 19 girls, mean age 10.8 years, SD 2.0) or 3-stage (Nijmegen group, 30 boys and 18 girls, mean age 8.9 years, SD 0.7). A 5-grade esthetic index of Asher-McDade was used, in which grade 1 indicates the most esthetic and grade 5 the least esthetic outcome. RESULTS: The nasal form was judged the least esthetic in both groups and graded 3.1 (SD 1.1) and 3.2 (SD 1.1). The nasal deviation, mucocutaneous junction, and profile view were scored from 2.1 (SD 0.8) to 2.3 (SD 1.0) in both groups. The treatment outcome after the Warsaw and Nijmegen protocols was comparable. Neither overall nor any of the 4 components of the nasolabial appearance showed intercenter differences (P > .1). CONCLUSIONS: The nasolabial appearance after the Warsaw (1-stage) and Nijmegen (3-stage) protocols was comparable. The technique of lip repair (triangular flap in Warsaw and Millard rotation advancement in Nijmegen) gave comparable results for the esthetics of the nasolabial area.

Quantitative assessment of oral orbicular muscle deformation after cleft lip reconstruction: an ultrasound elastography study

Reconstruction of a cleft lip leads inevitably to scar tissue formation. Scar tissue within the restored oral orbicular muscle might be assessed by quantification of the local contractility of this muscle. Furthermore, information about the contraction capability of the oral orbicular muscle is crucial for planning the revision surgery of an individual patient. We used ultrasound elastography to determine the local deformation (strain) of the upper lip and to differentiate contracting muscle from passive scar tissue. Raw ultrasound data (radio-frequency format; rf-) were acquired, while the lips were brought from normal state into a pout condition and back in normal state, in three patients and three normal individuals. During this movement, the oral orbicular muscle contracts and, consequently, thickens in contrast to scar tissue that will not contract, or even expand. An iterative coarse-to-fine strain estimation method was used to calculate the local tissue strain. Analysis of the raw ultrasound data allows estimation of tissue strain with a high precision. The minimum strain that can be assessed reproducibly is 0.1%. In normal individuals, strain of the orbicular oral muscle was in the order of 20%. Also, a uniform strain distribution in the oral orbicular muscle was found. However, in patients deviating values were found in the region of the reconstruction and the muscle tissue surrounding that. In two patients with a successful reconstruction, strain was reduced by 6% in the reconstructed region with respect to the normal parts of the muscle (from 22% to 16% and from 25% to 19%). In a patient with severe aesthetical and functional disability, strain decreased from 30% in the normal region to 5% in the reconstructed region. With ultrasound elastography, the strain of the oral orbicular muscle can be quantified. In healthy subjects, the strain profiles and maximum strain values in all parts of the muscle were similar. The maximum strain of the muscle during pout was 20% +/- 1%. In surgically repaired cleft lips, decreased deformation was observed.

[Oral jewelry: a review]

Oral jewelry is popular. One of the most widely spread types are so-called tooth diamonds made of composite materials which are applied to the teeth with an adhesive. Note that parents are required to sign a release form for under-aged patients in Switzerland. Tooth cap grills and gold teeth are considered status symbols within the Hip-Hop fashion scene. However, tooth ornaments favour the accumulation of plaque and can diminish the ability to articulate. With respect to jewelry in oral soft tissue especially tongue and lip piercings are of significance to dentists. Besides the systemic complications, which are mostly caused by a lack of hygiene or the failure of noting medical contraindications by the piercer, local complications occur frequently. After surgery, pain, swelling, infections as well as hemorrhages or hematomas can be observed. Long-term effects can be problematic: gingival recession can be discernes mainly in the case of lip piercings the loss of hard tooth substance in the case of tongue piercings. Because of that, conservation therapies can become indespensable. Patients wearing dental jewelry have to be aware of risks of tooth damage, and they regularly have to undergo dental check-ups. Information campaigns--for dentists as well as patients--are necessary.

Decompressive hemicraniectomy in subarachnoid haemorrhage: the influence of infarction, haemorrhage and brain swelling

OBJECTIVE: To analyse decompressive hemicraniectomy (DHC) in patients with aneurysmal subarachnoid haemorrhage (SAH) with regard to infarction, haemorrhage or brain swelling. METHODS: DHC was performed in 43 of 787 patients with SAH. Patients were stratified according to (1) primary brain swelling without and (2) with additional intracerebral haematoma, (3) secondary brain swelling without rebleeding or infarcts and (4) with infarcts or (5) with rebleeding. Outcome was assessed according to the modified Rankin scale at 6 months RESULTS: Overall, 36 of 43 patients (83.7%) with DHC and 241 of 744 patients (32.4%) without DHC have been of a poor grade on admission (World Federation of Neurological Societies grading 4-5; p<0.0001). Favourable outcome was achieved in 11 of 43 (25.6%) patients with DHC. There was no difference in favourable outcome after primary (25%) versus secondary (26.1%) DHC (p = 1.0). Subgroup analysis (brain swelling vs bleeding vs infarcts) revealed no difference in the rate of favourable outcome. In a multivariate analysis, acute hydrocephalus (p = 0.02) and clinical herniation (p = 0.03) were significantly associated with unfavourable outcome. CONCLUSIONS: We conclude that primary and secondary hemicraniectomy may be warranted, irrespective of the underlying aetiology-infarction, haemorrhage or brain swelling. The time from onset of intractable ICP to DHC seems to be crucial, rather than the time from SAH to DHC.

Cephalometric outcome of two types of palatoplasty in complete unilateral cleft lip and palate

In complete unilateral cleft lip and palate (CLP), a vomerplasty is assumed to improve midfacial growth because of the reduction in scarring in the growth-sensitive areas of the palate. Our aim, therefore, was to evaluate maxillofacial morphology after a modified Langenbeck technique or a vomerplasty in children with complete unilateral CLP who were operated on by a single surgeon. As part of a one-stage closure of complete unilateral CLP done during the first year of life, the technique for repair of the hard palate repair differed between the two groups. In the modified group (n=37, mean age 11 years) a modified von Langenbeck technique was used that resulted in denudation of the bony surface on the non-cleft side only. In the vomerplasty group (n=37, mean age 11 years) a vomerplasty was used to cover the palatal bone. Lateral cephalograms from both groups were compared using the Eurocleft protocol. Fourteen angular variables were measured and 2 ratios calculated. Skeletal morphology in the groups was comparable. Maxillary incisor inclination (ILs/NL angle) and interincisal angle (ILs/ILi) were better after vomerplasty (p=0.001 and 0.04, respectively) but soft tissue facial convexity (gs-prn-pgs) was less good after vomerplasty (p=0.009). However, there was no difference between the groups in the other variable that reflected facial convexity (gs-sn-pgs) (p=0.22). Modification of the palatoplasty had a limited effect on skeletal morphology in preadolescent children, but it resulted in better inclination of the maxillary incisors.

Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public

The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients.

Gene Discovery in Nonsyndromic Cleft Lip with or without Cleft Palate

Nonsyndromic cleft lip with or without cleft palate (NSCLP), a common, complex orofacial birth defect that affects approximately 4,000 newborns each year in the United States, is caused by both genetic and environmental factors. Orofacial clefts affect the mouth and nose, causing severe deformity of the face, which require medical, dental and speech therapies. Despite having substantial genetic liability, less than 25% of the genetic contribute to NSCLP has been identified. The studies described in this thesis were performed to identify genes that contribute to NSCLP and to demonstrate the role of these genes in normal craniofacial development. Using genome scan and candidate gene approaches, novel associations with NSCLP were identified. These include MYH9 (7 SNPs, 0.009≤p<0.05), Wnt3A (4 SNPs, 0.001≤p≤0.005), Wnt11 (2 SNPs, 0.001≤p≤0.01) and CRISPLD2 (4 SNPs, 0.001≤p<0.05). The most interesting findings were for CRISPLD2. This gene is expressed in the fused mouse palate at E17.5. In zebrafish, crispld2 localized to the craniofacial region by one day post fertilization. Morpholino knockdown of crispld2 resulted in a lower survival rates and altered neural crest cell (NCC) clustering. Because NCCs form the tissues that populate the craniofacies, this NCC abnormality resulted in cartilage abnormalities of the jaw including fewer ceratobranchial cartilages forming the lower jaw (three pairs compared to five) and broader craniofacies compared to wild-type zebrafish. These findings suggest that the CRISPLD2 gene plays an important role in normal craniofacial development and perturbation of this gene in humans contributes to orofacial clefting. Overall, these results are important because they contribute to our understanding of normal craniofacial development and orofacial clefting etiology, information that can be used to develop better methods to diagnose, counsel and potentially treat NSCLP patients.

Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate.

Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance.

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate.

Nonsyndromic cleft lip with or without cleft palate (nsCL/P, MIM 119530) is perhaps the most common major birth defect. Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Venezuela. To address the more general role of PVRL1 variation in risk of nsCL/P, we carried out mutation analysis of PVRL1 in North American and Australian nsCL/P cases and population-matched controls. We identified a total of 15 variants, 5 of which were seen in both populations and 1 of which, an in-frame insertion at Glu442, was more frequent in patients than in controls in both populations, though the difference was not statistically significant. Another variant, which is specific to the PVRL1 beta (HIgR) isoform, S447L, was marginally associated with nsCL/P in North American Caucasian patients, but not in Australian patients, and overall variants that affect the beta-isoform were significantly more frequent among North American patients. One Australian patient had a splice junction mutation of PVRL1. Our results suggest that PVRL1 may play a minor role in susceptibility to the occurrence of nsCL/P in some Caucasian populations, and that variation involving the beta (HIgR) isoform might have particular importance for risk of orofacial clefts. Nevertheless, these results underscore the need for studies that involve very large numbers when assessing the possible role of rare variants in risk of complex traits such as nsCL/P.

Intracranial EEG reveals a time- and frequency-specific role for the right inferior frontal gyrus and primary motor cortex in stopping initiated responses.

Inappropriate response tendencies may be stopped via a specific fronto/basal ganglia/primary motor cortical network. We sought to characterize the functional role of two regions in this putative stopping network, the right inferior frontal gyrus (IFG) and the primary motor cortex (M1), using electocorticography from subdural electrodes in four patients while they performed a stop-signal task. On each trial, a motor response was initiated, and on a minority of trials a stop signal instructed the patient to try to stop the response. For each patient, there was a greater right IFG response in the beta frequency band ( approximately 16 Hz) for successful versus unsuccessful stop trials. This finding adds to evidence for a functional network for stopping because changes in beta frequency activity have also been observed in the basal ganglia in association with behavioral stopping. In addition, the right IFG response occurred 100-250 ms after the stop signal, a time range consistent with a putative inhibitory control process rather than with stop-signal processing or feedback regarding success. A downstream target of inhibitory control is M1. In each patient, there was alpha/beta band desynchronization in M1 for stop trials. However, the degree of desynchronization in M1 was less for successfully than unsuccessfully stopped trials. This reduced desynchronization on successful stop trials could relate to increased GABA inhibition in M1. Together with other findings, the results suggest that behavioral stopping is implemented via synchronized activity in the beta frequency band in a right IFG/basal ganglia network, with downstream effects on M1.

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to NSCLP, most of the genetic susceptibility loci have yet to be defined. To identify additional contributory genes, a high-throughput genomic scan was performed using the Illumina Linkage IVb Panel platform. We genotyped 6008 SNPs in nine non-Hispanic white NSCLP multiplex families and a single large African-American NSCLP multiplex family. Fourteen chromosomal regions were identified with LOD>1.5, including six regions not previously reported. Analysis of the data from the African-American and non-Hispanic white families revealed two likely chromosomal regions: 8q21.3-24.12 and 22q12.2-12.3 with LOD scores of 2.98 and 2.66, respectively. On the basis of biological function, syndecan 2 (SDC2) and growth differentiation factor 6 (GDF6) in 8q21.3-24.12 and myosin heavy-chain 9, non-muscle (MYH9) in 22q12.2-12.3 were selected as candidate genes. Association analyses from these genes yielded marginally significant P-values for SNPs in SDC2 and GDF6 (0.01

Randomized controlled trial: lip piercing: the impact of material on microbiological findings

PURPOSE The purpose of this study was to investigate whether there are microbiological differences in bacterial samples collected from labial piercings made of different materials. METHODS Sterile piercings of 4 materials were randomly allocated to 80 pierced subjects. After 2 weeks, microbiologic samples were collected and processed by checkerboard DNA-DNA hybridization methods. Wilcoxon signed ranks and Mann-Whitney tests were used for statistical analysis (adjustment for multiple comparisons). RESULTS There were no statistically significant differences between material groups in relation to baseline data. In samples from stainless steel piercings, the total microbial load was significantly higher than the other materials (P<.05). Ten (mainly periopathogenic) species were found at significantly higher levels (P<.001) on steel than on polypropylene and/or polytetrafluoroethylene piercings. CONCLUSIONS Labial piercings made of stainless steel could promote the development of a pathogenic biofilm.