Über genetische Faktoren bei der Ätiologie von Lippen-Kiefer-Gaumen-Spalten

Zusammenfassung Im ersten Teil geht es um die Frage, welche Rolle genetische Faktoren bei der Ätologie von LKG-Spalten spielen und wenn ja, um welchen Erbtyp es sich handelt. Es werden die Gründe genannt, weshalb dominante oder rezessive autosomale Gene für die Spalten vom häufigen Typ ausscheiden und statt dessen ein multifaktorielles genetisches System (MGS) in Betracht zu ziehen ist, bei dem additive Polygenie und Exogenie gleichermaßen eine Rolle spielen. Von entscheidender Bedeutung ist dabei der große Konkordanzunterschied zwischen EZ- und ZZ-Paaren. Im zweiten Teil geht es um die Frage, ob zwischen LKG-Spalten und G-Spalten ein ätiologischer Unterschied besteht, wie allgemein angenommen wird, und woraus sich z. B. die unterschiedlichen Risikoerwartungen für die beiden Spalttypen errechnen. Es werden die verschiedenen Gründe genannt, die dagegen sprechen.Sie sind inzwischen so erhärtet, z. B. durch die Untersuchungen vonCharbora u. Mitarb., daß die These von der ätiologischen Verschiedenheit der beiden Spaltarten verworfen werden kann. Die Ätiologie der isolierten G-Spalten vom häufigen Typ gesondert zu besprechen, erübrigt sich in Zukunft also.

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Summary In the first section the significance of genetic factors in the etiology of manifest cleft lip and palates is discussed and which type of genetic trait is reflected. Reasons are given as to why the average cleft lip and palate should not be regarded as the result of dominant or secessive autosomal genes. Rather, a multifactorial genetic system (MGS) should be considered which incorporates equally polygenetic influences and exogenic factors. Of crucial importance is the difference in conformity between mono- and dizygotic twins. The second part consideres the question as to whether there is an etiological difference in patients with combined cleft lip-palates and those with isolated cleft palates as it is often assumed, and how the different chances of manifestation for these two types of clefts can be precalculated. Several reasons against a different cause of these two types of clefts are given. Now that they are well proven, e. g. by research ofA. J. Carbora et al., the theory of a different etiology of these two types of clefts can be discarded. Therefore the etiology of isolated cleft palates can be neglected in the future.

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Résumé Dans la première partie, on recherche le rôle des facteurs génétiques dans l'étiologie des fissures labioalvéolo-palatines et, en cas affirmatif, de quel type héréditaire il s'agit. Pour la fissure du type le plus fréquent, on mentionne les raisons pour lesquelles on peut exclure des gènes dominants ou récessifs autosomaux; à la place de ceux-ci il faut prendre en considération un système multifactoriel où la polygénie additive et l'exogénie sont également importantes. Ce fait est particulièrement mis en évidence par la nonconcordance entre les jumeaux univitellins et bivitellins. Dans la seconde partie, on recherche s'il y a une différence étiologique entre les fissures labio-alvéolo-palatines et les fissures palatines, comme c'est l'opinion générale, et ce partant, de calculer les risques pour les deux types de divisions. On donne les raisons diverses qui militent contre cette opinion. Aujourd'hui, par exemple, elles sont tellement confirmées par les recherches deA. J. Charbora et son équipe que la thèse de la différence étiologique des deux types de fissures ne peut plus être soutenue. Ainsi dans l'avenir on n'aura plus besoin de discuter l'étiologie des divisions palatines.

     

Frontzahnstellung und Weichteilprofil—eine experimentelle Studie

Zusammenfassung Zahnlose Patienten mit noch guten Kieferverh?ltnissen, bei denen eine Versorgung mit Totalprothesen durchgeführt worden war, dienten als Modell, um die Auswirkungen einer systematischen Variation der Frontzahnstellung auf das Weichteilprofil studieren zu k?nnen. Dafür wurden Durchzeichnungen von bei verschiedenen Frontzahnstellungen gewonnenen Fernr?ntgenseitenbildern überlagert und miteinander verglichen. Es zeigte sich, da? die Auswirkungen von verschiedenen Faktoren abh?ngen. Der bisher kaum berücksichtigte Faktor „vertikale Lagerelation” erwies sich dabei als besonders bedeutsam.

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Summary In order to study the effect of variation of the front teeth on the soft tissue profile, edentulous patients with good jaw relationships and fitted with dentures were taken as models. Radiographs were made with the front teeth in different positions and the tracings were superimposed and compared with one another. We saw that the effect depends on various factors. The factor “vertical position” proved particularly significant.

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Résumé Afin d'étudier les effets de la variation systématique de la position des incisives sur le profil cutané, nous avons pris comme modèle des patients édentés qui portaient une prothèse, mais dont les machoires étaient encore en bon état. Après avoir radiographié les patients avec les incisives en différentes positions, nous avons superposé les radiographies et nous les avons comparées. Nous avons vu que l'effet produit dépend de plusieurs facteurs. Le facteur ?position verticale? s'est révélé être particulièrement significatif.

     

Das Landschwein als Modell für Ausbildung, wissenschaftliche Untersuchungen und Entwicklung neuer arthroskopischer Operationsmethoden am Kiefergelenk

Aim of the study

The aim of this study was to establish a reliable educational model for and a further refinement of arthroscopic surgery in the temporomandibular joint (TMJ).

Material and methods

As a first step, the lateral-medial (length) and anterior-posterior distances (width) of the mandibular head of nine pig cadavers (country breed) of about 30 (n=3), 60 (n=3) and 90 kg (n=3) body weight were measured and compared with findings in 12 adult human cadavers. The best points of access for the arthroscopic and lavage channels using the triangulation technique were determined. As determined by these findings, 15 arthroscopies were performed on eight pig TMJs under general anaesthetic. A control arthroscopy was performed after 2 weeks followed by another clinical follow-up at 4 weeks before the pigs were sacrificed.

Results

The TMJ of the pigs between 30 and 60 kg body weight was found to be highly comparable to the human TMJ. The best locations for puncturing the upper joint compartment of the TMJ in pigs were 5.0 cm and 6.1 cm anterior to the tragus on a line drawn along the lower margin of the zygoma. The only complication encountered was a subcutaneous infection treated successfully by antibiotics and incision.

Conclusions

In our opinion, a standard and easily reproducible model is necessary for further studies in arthroscopic TMJ-surgery. The country bred pig represents a good model for educational purposes and for studying further refinements of arthroscopic technique.      

Das Heerfordt-Syndrom — eine seltene Erstmanifestation der Sarkoidose

Sarcoidosis is a chronic, multisystem disorder of unknown cause characterized by noncaseating epithelioid granulomas. Infectious agents and genetic components have been discussed. Heerfordt’s syndrome with uveitis, enlargement of the parotid glands and optional paralysis of the Nn. facialis is a form of sarcoidosis. The diagnosis is confirmed by histology. Further analyses are fiberoptic bronchoscopy with bronchoalveolar lavage or the gallium-67 scan in combination with blood findings. The therapy of choice is glucocorticoids. We present a case report of Heerfordt’s syndrome and a review of the literature covering different aspects of sarcoidosis.     

Life-threatening thrombotic thrombocytopenic purpura associated with dental foci. Report of two cases

OBJECTIVES: Thrombotic thrombocytopenic purpura (TTP) is a rare haematological disease of unknown aetiology. This thrombotic microangiopathy is characterized by microvascular lesions with platelet aggregation. It is found in adults and can be associated with pregnancy, cancer, autoimmune diseases, bone marrow transplantation, drugs and bacterial as well as viral infections. The therapy requires a multi-disciplinary team approach involving dentistry. Even if TTP is immediately treated in an adequate manner, it still shows a mortality of up to 20%. AIM: To define a specific treatment concept for periodontal disease and decayed teeth in patients suffering from TTP based on the experiences gained from two cases. CONCLUSION: The two patient cases revealed a possible association of TTP with dental foci. Because of the severity and mortality of this disease, both prognosis evaluation and treatment standards of periodontologically compromised or decayed teeth have to be strictly followed in patients suffering from TTP. In order to avoid recurrence of TTP, it seems important to remove radically teeth of questionable prognosis.     

Eigenblutspende in der Dysgnathiechirurgie

Aim

To minimize the perioperative risk of transfusion-associated complications, preoperative autologous blood donation is routinely performed in orthognathic surgery. This study critically analyzed the necessity of this procedure with respect to clinical, economic, and juridical issues.

Material and methods

In the Department of Oral and Maxillofacial Surgery, Bonn Medical School, 178 orthognathic surgical procedures were performed from 1994 to 2002. All patients (women, n=101; men, n=77) were informed about the possibility of autologous blood donation. This procedure was carried out in 83%,for single jaw surgery two and for bimaxillary osteotomies three to four units of packed red blood cells were predeposited. Of the patients, 99 underwent monognathic surgery in the lower jaw, 27 patients in the upper jaw, and bimaxillary osteotomy was performed in 52 patients.

Results

The average blood loss for the monognathic procedure in the lower jaw was 756 ml, in the upper jaw 858 ml, and in double jaw surgery 1391 ml. In 13 patients the hemoglobin concentration fell below 7.5 g/dl and 12 patients received their predeposited autologous blood units. A total of 57.7% of all donated autologous blood units were discarded.

Conclusion

Autologous blood donation should be performed from the medical point of view for double jaw surgery and considered in single cases with special risks in monomaxillary osteotomies.     

A giant osteoma of the mandible: case report.

A 53-year-old patient with a giant osteoma of the right mandible is presented. The clinicopathological features of osteoma of the mandible are discussed and Gardner's syndrome was excluded.     

Kritische Anmerkung zum Beitrag von H. Th. Schrems und G. Schrems-Adam: Die terminale Scharnierachsenposition und die instrumentelle Funktionsanalyse in der Kieferorthopädie in Heft 5, Band 45 (1984), 373–381

Ohne Zusammenfassung