Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease.

OBJECTIVES: Fabry disease is a multisystem disorder with phenotypic heterogeneity only partially explained by genotype. Elevated interleukin-6 (IL-6) plasma levels and C-reactive protein (CRP) serum levels are associated with increased risk and worse outcome of ischaemic events, a serious prognostic sign in Fabry disease. METHODS: 56 patients (34 hemizygous males, 22 females; 5 children) were studied. A promoter polymorphism -174G > C of the IL-6 gene associated with serum IL-6 levels was compared with the Mainz Severity Score Index (MSSI) in patients with Fabry disease. CRP levels and polymorphism 1059 G > C were evaluated as markers of inflammation to ascertain the possibility of an inflammatory mechanism of IL-6. Nonparametric ANOVA, Fisher's exact, Bonferroni, and Hardy-Weinberg (HW) statistics were used. RESULTS: Mean age of adults = 42 (range 26-58) years; 29 patients received enzyme therapy (ERT). Mean total MSSI = 26.7 (range 14.2-39.2) points, i.e. moderate disease, but females were lower (total 23.4 +/- 12.6 vs 32.2 +/- 13.6). Controls but not patients were in HW equilibrium. Significant correlation existed between all sub-scores of the MSSI and IL-6 genotypes in females but only with three MSSI sub-scores for males. The IL-6 C/C genotype was significantly correlated with the neurological, general and total MSSI sub-scores, generally twofold higher. There were no statistically significant correlations with CRP levels/polymorphisms and MSSI sub-scores nor with IL-6 polymorphisms. CRP levels decreased after ERT in patients with IL-6 G/G or G/C genotypes but increased in patients with C/C (p = 0.003). CONCLUSIONS: The prevalence of the IL-6 C allele significantly influences MSSI, i.e. clinical severity, especially in females. This is unrelated to IL-6 as a pro-inflammatory marker as demonstrated by lack of correlations with CRP levels and genotypes. IL-6 -174 polymorphic C allele may be a prognostic marker in Fabry disease, especially in females.

[Clinical cases of keratinized fibromucous free autografts]. / Casi clinici di autoinnesti liberi di fibromucosa cheratinizzata.

In this work the problems due to shortage of proper or adherent gum have been analyzed, further has been referred the clinical cases corresponding to the periodontal indications, which foresee the reconstruction of an insufficient superficial periodontium. Moreover have been described the surgical techniques of the free graft.

[The role of emergency colonoscopy in colorectal hemorrhage]. / Il ruolo della colonscopia d'urgenza nelle emorragie del colon-retto.

The diagnosis of lower intestinal hemorrhage usually follows the successive sequence: a) digital rectal examination, b) rectosigmoidoscopy, c) barium enema, d) colonoscopy. This latter method has proven to be the most sensitive. This study is a retrospective examination of the results obtained by emergency colonoscopy on the diagnosis and treatment of lower intestinal hemorrhage. Out of 1258 colonoscopy procedures performed between January 1983 and June 1988 in the Digestive Endoscopy Unit of our Institute, 44 (3.5%) were emergency procedures (within 48 hrs. after recovery) due to lower intestinal hemorrhage. The most frequent causes of hemorrhage found were the following: 1) hemorrhagic colitis (20.5%), 2) polyps (13.6%), 3) hemorrhoids (13.6%), 4) carcinoma (9.0%). The hemorrhagic source was not established in 9 cases (20.5%). The sensitivity of this method was therefore 97.2%. In 6 cases of hemorrhagic polyps treatment to stop bleeding was also possible by means of the colonoscopy (endoscopic polypectomy). In our experience, the emergency colonoscopy was found to be a highly sensitive diagnostic procedure for lower intestinal hemorrhages, permitting even definitive treatment of the lesion in 13.6% of cases with no complications associated with the technique. We feel therefore that, when available, it should be considered the first and foremost exam to be performed for emergency diagnosis of colo-rectal hemorrhages.

[Ultrastructural aspects of root planing: scanning electron microscopy (S.E.M.)]. / Aspetti ultrastrutturali della levigatura radicolare al microscopio elettronico a scansione (S.E.M.).

The basis of Periodontal treatment is represented by scaling and root planing. The aim of this study was to compare root morphology after the use of three currets: a new Hu Friedy Gracey 7/8, a semi-new Hu Friedy Gracey 7/8, a worn Hu Friedy Gracey 7/8. The research indicates that manual treatment with the new curette is effective in removing tartar but can cause excoriations on the enamel of the tooth. In contrast, the use of the semi-new curette is less damaging and obtains the same results removing tartar without injuring the enamel surface.

[Squamous cell epithelioma: retrospective analysis of a multidisciplinary approach with surgical treatment and periodontal treatment]. / Epitelioma squamocellulare: analisi retrospettiva di un approccio multidisciplinare fra trattamento chirurgico e trattamento parodontale.

Retrospective analysis of a multidisciplinary approach between surgery treatment a periodontal treatment. In our experience the surgery treatment of the squamous cell carcinoma has been completed by periodontal treatment to eliminate the secondary consequences such as bleeding and salivating++ from the labial chyme.

[The crevicular fluid in diabetics before and after initial periodontal treatment]. / Studio del fluido sulculare in pazienti diabetici prima e dopo trattamento parodontale iniziale.

In this study gingival crevicular fluid was used as a parameter to estimate the efficacy of initial treatment in diabetic patients. The patients with diabetes had significantly more gingival inflammation before initial treatment than after. A Periotron with Periopaper was used to measure gingival crevicular fluid.

[Case of cleft palate]. / Considerazioni su un caso di palatoschisi.

The present paper briefly outlines the pathogenesis of cleft palate and proposes a classification system for cleft palate since both are considered essential for the understanding and assessment of its sequelae. The Authors describe one case of cleft palate. Cleft palate patients present functional and aesthetic alterations in the maxillomandibular area that often require prosthetic correction. Given the features of these malformations therapy and rehabilitation should be programmed as soon as possible after birth and the plastic surgeon should be informed of the factors that cause the malformations and influence the growth of such patients.

[Gingival changes in pregnancy]. / Alterazioni gengivali in gravidanza.

Pregnancy represent a particular sistemic condition able to induce, because the tissutal metabolism is upset, an increase replay of the gingival tissues, caused by local factors as plaque and tartar. In this study are described effects determined from the increment ormone on the periodontal tissues, the alterations of the salivar components in pregnancy and the therapy to follow to reach as soon as possible the recovery.

[Paget's degeneration of the juxta-alveolar portion of the mandible in subjects with generalized osteoporosis. Clinical study]. / Degenerazione pagetoide della prozione iuxta-alveolare della mandibola in soggetto affetto da osteoporosi generalizzata. Contributo clinico.

After the description of the etiopathogenetic aspects and of the pathologic anatomy lesion more typical of the Paget's disease, the A.A. describe a interesting case of the mandible's degeneration in a patient with chronic osteoporosis. The patient does not masticate. The treatment has been to remodelling of the mandible. We made a scrupulous check of laboratory research and the radiographical, biological and histological reports to exclude osteosarcoma and gigantic cells tumour.

[Oral respiration. Diagnosis and physiopathology]. / Respirazione di tipo orale. Clinica e fisiopatologia.

The oral breathing can change the functional connections during the development of the facial bones of the children. All this causes an abnormal growth of the facial bones and of the dental structures. This work developed a new discipline to remove this problem.

[Initial preparation for periodontal therapy]. / Preparazione iniziale nella terapia parodontale.

The purpose of the present investigation was to test concept that initial treatment is effectual to maintain gingival health. The principal local aging factor is represented by plaque accumulation and gingival inflammation. The results of this study have proved that initial treatment is effectual only on pockets measuring less than 4 mm to periodontal probing. Instead a surgical periodontal treatment is requested and more indicated on pocket depths measuring about or more than 6 mm to periodontal probing.

[Granulosa cell myoblastoma of the chin: clinical study]. / Mioblastoma a cellule granulose della regione mentoniera: contributo clinico.

An interesting of granular-cell Myoblastoma occurred on the chirny area of a patient bearer of an inferior dental prosthesis gives the starting point for a revision of all Histopathogenetic theory about the true origin of these rare and discussed neoformations mostly sealed on the oral cavity.