Prevalence and Mechanisms of Peri-implant Diseases.

The aim of the present critical review is to summarize recent evidence on the prevalence of peri-implant diseases and their similarities and differences with periodontal diseases with a focus on their pathogenetic mechanisms. Reports on the extent and severity of peri-implant diseases are influenced by different case definitions. The prevalence of peri-implant diseases is reported at the subject or implant level and affected by the type of population samples analyzed (e.g., randomly selected population samples or convenience samples). The outcomes of studies on animals and humans indicate that experimental biofilm accumulation leads to a higher frequency of bleeding sites around implants as compared with teeth. Despite the proof of principle that experimentally induced mucositis may be reversible, early diagnosis and management of naturally occurring peri-implant mucositis are clinically relevant. Tissue destruction at experimental peri-implantitis sites is faster and more extensive when compared with that at experimental periodontitis sites. Although human periodontitis and peri-implantitis lesions share similarities with respect to etiology and clinical features, they represent distinct entities from a histopathologic point of view. To avoid implant loss, patients diagnosed with peri-implantitis should be treated without delay.

Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM1 mutation. NIPAL4 sequencing revealed in both patients a new homozygous missense mutation, c.403A>C, affecting a highly conserved amino acid (p. Ser135Arg) and predicted to be deleterious according to in silico analysis. In addition to the ARCI features, the patients had caries and partial edentation. Although delay in dental treatment led to caries progression and extraction of secondary teeth, this finding raises the possibility of a deficiency in enamel mineralization due to NIPAL4 dysfunction as an Mg(2+) transporter. Evaluating new patients with ARCI provides fruitful clinical and molecular findings.

Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on EB are available, we established a Registry for EB and implemented molecular diagnostic methods. OBJECTIVE: We present epidemiologic data from the EB Registry and genotype-phenotype correlations. METHODS: In 2006, a registry of patients with EB was initiated in the Department of Dermatology of the University of Medicine, as well as molecular diagnostic tools. The patients were diagnosed on clinical bases, and whenever possible, immunofluorescence mapping and molecular analysis were performed. RESULTS: 89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of EB could not be determined. DISCUSSION AND CONCLUSION: We have estimated, the total number of EB patients in Romania and we have estimated the incidence and the prevalence of EB. We have also managed to approximate the distribution of EB types in Romania. Moreover, we performed a phenotypic and genotypic characterization in some of the patients included in the EB register.

Photodynamic therapy using topical 5-aminolaevulinic acid vs. surgery for basal cell carcinoma.

BACKGROUND: Photodynamic therapy (PDT) is an attractive modality for the treatment of BCC, based on its generally favorable efficacy, adverse effect profile and its excellent cosmetic outcome. OBJECTIVES: The purpose of the study is to compare the efficacy and cosmetic outcome of photodynamic therapy with topical 5-aminolaevulinic acid (ALA-PDT) vs. simple excision surgery for superficial and nodular basal cell carcinoma (BCC). METHODS: A total of 72 patients, 32 with 48 lesions, were treated with ALA- PDT, and 40 with 46 lesions treated by excision were included in this prospective, comparative, controlled, clinical study. The patients have been followed for 16-37 months (mean 25 months). The PDT was performed in combination with 5-aminolaevulinic acid twice, one month apart. Surgical excision was performed under local anesthesia with a 3-mm margin, followed by histological examination. The cosmetic outcome was evaluated by the physician according to a 4-point scale. RESULTS: Overall 94 BCC were treated. Complete healing rates did not differ significantly between groups, P = 0.64 (46/48 [95.83%] lesions treated with PDT vs. 44/46 [95.65%] lesions with surgery). In the first 12 months of follow-up, 4 lesions had recurred, 2 of which were in the PDT group while 2 lesions after surgery. The mean follow-up was 25 months. The recurrence rate in the ALA-PDT group was 4.16% vs. 4.34% in the surgery group, p = 0.64. The cosmetic outcome was superior for ALA-PDT at all time points. At 12 months, 100% lesions treated with ALA-PDT had an excellent or good cosmetic outcome, according to the investigator, compared with 88.86% with surgery, P = 0.01. CONCLUSION: ALA-PDT offers a similarly high efficacy, and a better cosmetic outcome than simple excision surgery in the treatment of BCC.

Analysis of quality and feasibility of an objective structured clinical examination (OSCE) in preclinical dental education.

INTRODUCTION: An objective structured clinical examination (OSCE) has been implemented in preclinical dentistry. It was taken at an early stage (propaedeutics course). The objectives of this study were to evaluate the reliability, validity, and feasibility of the examination, and the effect of circuit number on OSCE score. METHODS: The OSCE was designed by an expert committee on the basis of pre-reviewed blueprints and checklists. Eleven stations formed an interdisciplinary circuit. Six groups of students (n = 62) passed sequentially round the same circuit. Statistical analysis was performed by using SPSS. Reliability was determined by measurement of internal consistency (Cronbach's α, Guttman's λ(2) ), standard error of measurement (SEM) (comprising generalisability index α, dependability index ϕ and pass 150;fail reliability p(c) ), consistency coefficient κ, item 150;scale correlation (Pearson correlation), and, because the unidimensionality of the stations could not be assumed, factor analysis including varimax rotation. Convergent validity (Pearson correlation, t-test), and predictive validity for future preclinical courses and the final preclinical examination were assessed by analysis of variance (ANOVA). The effect of the circuit number on score improvement was calculated, including a correction for the general competence of the students (ANOVA). Cost was calculated on the basis of the time invested. RESULTS: Fifty-three out of sixty-two students passed the OSCE (mean score: 67%, SD 7.7, range, 47-81). Scores for each station correlated significantly with total scores (r = 0.35-0.54, P < 0.01). For internal consistency, α = 0.75 (relative SEM 3.8) and λ(2) = 0.766. The dependability index was ϕ = 0.694 (absolute SEM 4.4), p(c) = 0.89 and κ = 0.61. Factor analysis yielded two components: dental-materials-oriented stations and all other stations (explained variance 43%). Scores correlated significantly with success in passing practical tests (i.e. performing dental procedures under examination conditions) (known group validity, P < 0.01) and with scores for subsequent courses and the final preclinical examination (Physikum) (predictive validity, P < 0.001). Later groups performed 4% better on average (CI 95%: 1.2-6.8%; P < 0.01). The cost was 181 Euro per student. CONCLUSIONS: The OSCE is reliable and valid in the context of preclinical dentistry. The cost is substantial. The problem of improvement of students' results with ascending circuit number has to be addressed.

The role of ultraviolet radiation and tyrosine stimulated melanogenesis in the induction of oxidative stress alterations in fair skin melanocytes.

BACKGROUND: Melanocytes are producing melanin after UV irradiation as a defense mechanism. However, UV-induced damage is involved in melanoma initiation, depending on skin phototype. Melanocytes seem to be extremely susceptible to free radicals. Their main enzymatic antioxidants are superoxide dismutase and catalase. AIM: To study how melanin synthesis modulates the activity of the oxidative stress defense enzymes and cell proliferation after UV induced cell damage. METHODS: Normal human melanocyte cultures from fair skin individuals were exposed to high levels of L-tyrosine and irradiated, with 20, 30, 40 mJ/cm2 UVA, and respective UVB. Proliferation was measured using a MTS assay; viability was assessed by trypan blue exclusion dye method. Spectrophotometrical methods were used to determine total melanin content, the enzymatic activity of tyrosinase, superoxide dismutase and catalase. RESULTS: Tyrosine had a negative effect on proliferation, enhanced with time elapsed. Overall, UV irradiation decreased proliferation. UVA increased proliferation relative to UVB in the cultures exposed for a longer time to high (2 mM) tyrosine concentration. There were no proliferation differences between UVA and UVB irradiation in lower tyrosine concentration exposed melanocytes. Both, UV irradiation and tyrosine increased melanogenesis. Exposure of the melanocytes to increased levels of tyrosine in medium (0.5 mM and 1 mM) and UV irradiation enhanced the activity of superoxide dismutase and catalase. The enzymes showed a high activity rate in melanocytes while exposed for a short time to 2 mM tyrosine, but their activity was dramatically decreased with longer tyrosine exposure and UV irradiation. CONCLUSION: Our data indicate that in low phototype melanocytes, melanogenesis, either following UV irradiation, or tyrosine exposure, especially in high concentrations, was detrimental for the cells by reducing the activity of catalase and superoxidedismutase, the natural antioxidants. UVA was more efficient in stimulating the activity of superoxide dismutase and catalase but also in depleting the reserves of the enzymatic defense against oxidative stress, especially catalase, than UVB. This physiologic response to UV light can be considered as an adjunctive risk factor for people with low phototype for developing a melanoma, when exposed to UV irradiation.

[Scleromyxedema with laryngeal changes. Beneficial results of the treatment with mucopolysaccharidases]. / Scléromyxoedème avec modifications laryngées. Résultats bénéfiques du traitement par mucopolysaccharidases.

We observed a case of scleromyxoedema with specific cutaneous lesions in a 62-year-old man. These lesions were associated with modifications of the central nervous system, latent thyroid failure, cardiovascular changes and myopathy, usual manifestations of this disease, but without paraproteinaemia. Unusual laryngeal manifestations were a dysphonia with chronic pseudomyxomatosis of the larynx. Urinary mucopolysaccharide excretion was increased. It is important to underscore the favourable response to Thiomucase when more toxic drugs had become ineffective.