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Results. Patients with >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.

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.

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.

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A total of 47 primary squamous cell carcinomas of the tongue were analysed by DNA flow cytometry. With respect to their clonal DNA content two distinct tumor groups could be distinguished. In 14 cases the tumors (29.8%) were dipoid, whereas in 33 cases (70.2%) additional cell lines characterized by abnormal DNA content could be detected. A significant increase of aneuploid cases with tumor size as well as with decreasing histological differentiation could be detected. Aneuploid cell lines are lacking in T1 as well as in most G1 carcinomas but predominate in T3 and G3. Furthermore, cervical lymph node involvement was recognized in the majority of aneuploid primary carcinomas (81.8%) but was largely lacking in diploid tumors (21.4%). Hence, the presence of aneuploid cell lines is clearly connected with clinical and histopathological parameters, each of which have turned out to worsen the prognosis in tongue carcinomas.

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.

Orofacial clefts are one of the most common birth defects in humans with a prevalence of 1:700. Nonsyndromic cleft lip with or without cleft palate or isolated cleft palate show an incomplete separation of the oral cavity and the nasal space without any additional malformations. Beside complete cleft palate also submucous celft palates exist that are hidden below the intact mucosa. The aetiology of celfts is a complex interaction between environmental and genetic factors. Orofacial clefts cause many complications like feeding, speech and hearing problems needing a team of head and neck surgeons, oral and maxillofacial surgeons, phoniatricians and speech therapist for treatment. Often a genetic counselling is made for estimating the risk for the relatives.