Do orofacial clefts represent different genetic entities?

OBJECTIVE: To contribute to the understanding of potential genetic differences between different cleft types. METHOD: Analysis of family history concerning cleft type and search for cleft-type-specific associations in candidate genes performed in 98 individuals from 98 families. RESULTS: In a given family, the cleft type of a second case was more often identical to the index case than expected by chance. Each type of cleft (cleft lip [CL], cleft lip and palate [CLP], cleft palate only [CP], and submucous cleft palate only [SMCP]) was associated with different genes. CONCLUSION: Family history indicates some specificity of cleft types. The observed phenotype-genotype associations were compatible with this interpretation in that significant associations occurred with disjoint sets of genes in each cleft type. These observations indicate that CL, CLP, CP, and SMCP might represent genetically different entities.

Genetic and environmental risk factors for submucous cleft palate.

A multifactorial aetiology with genetic and environmental factors is assumed for orofacial clefts. Submucous cleft palate (SMCP), a subgroup of cleft palates with insufficient median fusion of the muscles of the soft palate hidden under the mucosa, has a prevalence of 1:1,250-1:5,000. We described the prevalence of risk factors among 103 German patients with the subtype SMCP and genotyped 24 single nucleotide polymorphisms (SNPs) from 12 candidate genes for orofacial clefts. Analysis of risk factors yielded a positive history for maternal cigarette smoking during pregnancy in 25.2% of the patients, and this was significantly more frequent than in the normal population. The group of patients differed in allele frequencies at SNP rs3917192 of the gene TGFB3 (nominal P = 0.053) and at SNP rs5752638 of the gene MN1 (nominal P = 0.075) compared with 279 control individuals. Our results indicate a potential role of maternal smoking during pregnancy for the formation of SMCP. The analysis of genetic variants hints at the contribution of TGFB3 and MN1 in the aetiology of SMCPs.

Flow cytometric DNA ploidy in salivary gland tumours.

This study on 279 tumours of the salivary glands was conducted to analyse whether the assessment of DNA ploidy by flow cytometry may assist histopathology in discriminating benign from malignant types of tumours. The group of benign tumours included 164 pleomorphic adenomas, 51 Warthin's tumours, 7 basal cell adenomas, 2 lipomas as well as 5 other different tumours. All of the 229 benign tumours were diploid. The malignant tumours consisted of 18 adenoid cystic adenomas, 10 mucoepidermoid carcinomas, 5 acinic cell carcinomas, 5 carcinoma in pleomorphic adenoma as well as of 12 other malignancies belonging to 7 different tumour entities. Twelve of 50 malignant salivary gland tumours were aneuploid. There was no significant relationship between the DNA ploidy status and histopathological grading, lymph node metastasis and local recurrence development, respectively. In three cases which initially were taken for pleomorphic adenomas by routine histological examination, aneuploid cell populations exposed by DNA flow cytometric analysis gave rise to a closer inspection of the suspect lesions. Examination of consecutive slides actually revealed small assemblies of carcinoma cells that required a final diagnosis as non-invasive carcinoma in pleomorphic adenoma. The most obvious value of DNA flow cytometry in salivary gland tumours is thus its contribution to assist histopathology in identifying potentially malignant lesions.

Repaired cleft palate and ventilation tubes and their associations with cholesteatoma in children and adults.

OBJECTIVE: To determine the influence of ventilation tubes (VTs) on the formation of cholesteatoma and hearing in operated cleft palate patients with chronic ear problems. DESIGN: Retrospective 72-month follow-up of 116 operated cleft palate patients. PATIENTS AND INTERVENTIONS: Demographic data, clinical examination, and hearing were evaluated. The patients were divided according to age and type of cleft and subdivided in a subgroup with (VT+) or without ventilation tube (VT-). MAIN OUTCOME MEASURES: The effect of ventilation tubes (VT) on the incidence of cholesteatoma formation and degree of hearing loss in operated cleft palate patients with chronic ear problems. RESULTS: The overall incidence of cholesteatoma was 15.5% (VT+, 14.0%; VT-, 16.7%; not significant). Bilateral hearing loss of >20 dB remained in 14.0% of the VT+ patients and in 22.7% of the VT- patients (p < .05). Submucous cleft palate (SM CP) adults (n = 15) developed high rates of cholesteatoma and hearing loss of >20 dB (both 26.7%). CONCLUSIONS: Tube insertion had no influence on the development of cholesteatoma. Adults with submucous cleft palate especially require periodic otologic evaluation because they have Eustachian tube-related otologic disease and hearing loss at a higher rate than expected.

Sonographic investigation of the temporomandibular joint in patients with juvenile idiopathic arthritis: a pilot study.

OBJECTIVE: To evaluate whether there are any correlations between the clinical parameters of temporomandibular joint (TMJ) arthritis and pathologic ultrasound (US) findings of the TMJ in patients with juvenile idiopathic arthritis (JIA). METHODS: We conducted prospective clinical and US investigations of the TMJs of 48 patients with JIA. The US investigation was performed by a 12-MHz high-resolution transducer, which was positioned parallel to the ramus of the mandible overlying the zygomatic arch in a closed-mouth position and maximum open-mouth position. RESULTS: Patients with > or = 5 peripheral affected joints showed significantly more sonographically diagnosed destructive changes in the TMJ than did patients with <5 affected joints. There was no significance between the number of affected peripheral joints and disc dislocation in the closed-mouth position. In the maximum open-mouth position, there was a significant correlation between the number of affected peripheral joints and disc dislocation. Patients with a JIA duration >23 months had a significantly higher rate of disc dislocation and destructive changes. Patients with a JIA duration >60 months had a significantly higher rate of destructive changes of the TMJ than patients with a disease duration <60 months, but no statistical significance was found concerning disc dislocation. CONCLUSION: The significant correlation between pathologic sonographic findings, duration of JIA, and the number of affected peripheral joints make the technique interesting for use as a diagnostic screening method.