Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease

Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring

Osteonecrosis of the Jaws. Prevalence, Risk Factors and Role of Microbiota and Inflammation in a Population of Spain

Introduction: The purpose of this article is to determine the prevalence of ONJ in patients who have undergone intravenous bisphosphonate therapy, and relate the risk factors described (including Actinomices); indeed, to establish a protocol to reduce the risk of developing ONJ and to evaluate the evolution of the patient according to the sample’s antibiogram

A Pilot Clinical Study on the Prognostic Relevance of Plasmatic Exosomes Levels in Oral Squamous Cell Carcinoma Patients

Background: To evaluate the relationship between the plasmatic CD63 and CAV1 positive exosome levels, in patients with OSCC before and after surgical treatment and to correlate it with their overall survival. Methods: A double-blind pilot study over 10 patients OSCC and T4 stage without distant metastases or local bone invasion has been performed. The average follow-up period was 37.64 months (34.3–40.84). We obtained 2 plasma tubes of 1 mL each before surgery and 7 days after surgery. Before performing the immunocapture-based analysis, EVs (Extracellular Vesicles) were isolated from the plasma and characterized with western blot analysis. Results: Mean values of CD63 positive plasmatic exosomes (EXO-CD63) after surgery decreased from 750.88 ± 286.67 to 541.71 ± 244.93 (p = 0.091). On the other hand, CAV-1 positive plasmatic exosomes (EXO-CAV-1) increased after surgery from 507 ± 483.39 to 1120.25 ± 1151.17 (p = 0.237). Patients with EXO-CD63 levels lower than the mean global value before the surgery had a survival of 36.04 months compared with the group with EXO-CD63 higher than the average who only survived 12.49 ± 1.67 months from the diagnosis, p = 0.225. When EXO-CAV-1 levels before surgery was lower than the average (813.94 ± 801.21) overall survival was 24.69 ± 22.23 months in contrast when it was higher that was only 11.64 months, p = 0.157. Patients with lower EXO-CD63 levels after surgery lived an average of 23.84 ± 23.9 months, while those with higher plasmatic levels of EXO-CD63 live 13.35 months, p = 0.808. When EXO-CAV-1 levels after surgery were lower, the average overall survival was 20.344 ± 15.40 months, in contrast when the EXO-CAV-1 levels were higher showing rather an estimate survival expectation of 1.64 months. Conclusions: Surgical treatment induced a dramatic reduction of the plasmatic levels of exosomes expressing CD63 as early as 1 week after resection. This first result suggests that the tumour mass is responsible of the high levels of circulating exosomes detected in cancer patients. At the same time point exosome expressing CAV-1 increased, possibly due to the inflammatory reaction immediately after surgery. Lastly, statistical analysis showed that lower levels of plasmatic exosomes both before and after surgery correlated with a better life expectancy of OSCC patients. Hopefully, this approach will prove useful in the clinical follow-up of cancer patientsS

Dissecting the proton transport pathway in oral squamous cell carcinoma: state of the art and theranostics implications

Cancer cells overexpress proton exchangers at the plasma membrane in order acidify the extracellular matrix and maintain the optimal pH for sustaining cancer growth. Among the families of proton exchangers implicated in carcinogenesis, carbonic anhydrases (CAs), monocarboxylate transporters (MCTs), Na+/H+ exchangers (NHEs), sodium bicarbonate cotransporters (NBCs), and vacuolar ATPases (V-ATPases) are highlighted. Considerable research has been carried out into the utility of the understanding of these machineries in the diagnosis and prognosis of several solid tumors. In addition, as therapeutic targets, the interference of their functions has contributed to the discovery or optimization of cancer therapies. According to recent reports, the study of these mechanisms seems promising in the particular case of oral squamous cell carcinoma (OSCC). In the present review, the latest advances in these fields are summarized, in particular, the usefulness of proton exchangers as potential prognostic biomarkers and therapeutic targets in OSCCS

Use of the fractal dimension to differentiate epithelium and connective tissue in oral leukoplakias

Background: Oral leukoplakia (OL) is considered one of the most common potentially malignant oral disorders (OPMD), with a verified increased risk of developing oral cancer. The identification of the dysplasia grade (low–high) is the only consolidated factor used to evaluate this risk. The objective of this study was to verify the role of the fractal dimension (FD) in assessing this dysplasia. Methods: To begin, 29 OL and 10 normal oral mucosa (NOM) biopsies were retrieved for FD analysis of the epithelial (dime) and the connective (dimc) tissue. Results: In the OL group, the median value of dime is higher (1.67, IQR = 0.12) than for the NOM group (1.56, IQR = 0.08), with statistically significant differences (Wilcoxon test, p = 0.0031). There were no differences in relation to dimc. Significant differences were observed between the non-dysplasia vs. high-grade (p = 0.0156) and low-grade vs. high-grade (p = 0.0049) groups. No significant differences were identified in relation to dimc for the different degrees of dysplasia. For a cut-off point of 1.44 of dime, a specificity of 96.6% was obtained, a sensitivity of 100%, and an AUC = 0.819 (p = 0.003). Conclusions: FD at the level of the epithelium may be used as a diagnostic tool in OLThis research was funded by Santiago de Compostela UniversityS

The use of topical corticosteroides in the treatment of oral lichen planus in Spain : a national survey

Explore the treatment of oral lichen planus with topical corticosteroids by the healthcare professionals in Spain. A questionnaire targeted health professionals who treat OLP, in particular maxillofacial surgeons, dermatologist and dentist. The dissemination of the questionnaires was conducted through professional associations and dental and medical societies. The questionnaire was previously evaluated by means of a cognitive pre-test procedure to ensure that the questions were opportune and appropriate, understandable and acceptable among the professionals. Of the 890 questionnaires sent a total of 190 questionnaires were answered by 90 dentists, 60 dermatol gists and 40 by maxillofacial surgeons. The most frequent treatment was 0.1% triamcinolone acetonide in orobase 3 times a day. The effectiveness of the topical corticosteroid treatment was 6.68 (SD= 2.26) in a scale of 1 to 10. The 30% of the dentists and 10.49% of maxillofacial surgeons combined treatment with other drugs. The most frequent one (80%) was nystatin (100,000 IU per millimetre). Dermatologists did not use other treatments in combination with corticosteroids. There is a need for national guidelines in treatment for oral lichen planus (treatment criteria, drug, dose, treatment time and method of application of corticosteroid) that can be applied by all professionals who treat this disease

Alveolar bone loss, platelet and glycosylated haemoglobin levels in 239 patients. A clinical study

The relation between periodontal disease and systemic pathologies is still not widespread among general practitioners. The aim of our study is to evaluate whether or not periodontal radiological diagnosis can aid the detection of blood alterations associated with acquired systemic diseases. This is a cross sectional study. All of the participants underwent a panoramic radiograph and a complete blood test. Morphological bone loss was considered as positive in those patients who showed radiographically more than 1 tooth with bone loss greater than or equal to the middle third of the root. The statistical analysis was performed by comparing the variables using the ANOVA or U-Mann-Whitney tests for independent samples with normal conditions. The correlation coefficient was analysed using the Pearson test. 239 patients were included in our study (96 men and 143 women) with an average age of 64.40 years. 59.04% of the patients were determined as morphological bone loss positive and had on average 4 teeth less than negative patients (p <0.0001). Also the average platelet levels in positive patients were lower (p = 0.024) and mean levels of HBA1c (p = 0.009) were higher. Morphological bone loss parameter can be useful both for dentists and general practitioners to refer, subsequently, to periodontal specialist

p27(Kip1) expression as a prognostic marker for squamous cell carcinoma of the head and neck

Regulation of the cell cycle is essential for carcinogenesis. The cell cycle is controlled by cyclin-dependent kinases (CDKs), which are upregulated by cyclins and downregulated by CDK inhibitors (CDKIs). Decreased p27(Kip1) expression has been associated with survival rate, tumor size, histological differentiation and the presence of lymph node metastasis in patients with various types of cancer. The aim of the current study is to provide a literature review on the association between p27(Kip1) expression and the clinical and pathological aspects of head and neck squamous cell carcinoma (HNSCC), and the expression of other CDKIs of the Cip/Kip family and cyclins. Throughout the literature, different methodologies were used to determine the immunohistochemical expression of p27(Kip1); thus, results concerning p27(Kip1) expression in HNSCC vary widely. However, it has now been confirmed that p27(Kip1) is underexpressed in SCC cells. p27 may be a promising marker for determining the prognosis of HNSCC, despite the marked variability of the results obtained. An association between p27 expression and survival rate, time to recurrence and tumor stage has been observed. Based on the information currently available, it is premature to recommend the analysis of p27(Kip1) expression in guiding HNSCC treatment planning. However, although relatively unstudied, the correlation between p27(Kip1) expression and other tumor suppressor genes may turn out to be important in determining the prognosis of HNSCC. Further prospective studies utilizing standardized laboratory methodologies and statistics that facilitate meta-analyses are required to confirm this proposal

A new morphologic classification of the alveolar ridge after distraction osteogenesis in human patients. A 17 years retrospective case series study

To perform a morphologic classification based on the results of bone augmentation after a distraction osteogenesis. Thirty-four (34) patients (24 women and 10 men; mean age, 47.1 years (SD=9.5); age range, 23 to 62 years) underwent a total of 42 alveolar ridge distractions before the placement of a total of 89 dental implants. Ridge bone morphology was evaluated as the main ordinal variable. Chi-squared, Kruskal-Wallis and ANOVA one-way test were used. Category I (30.95%): consisted of wide alveolar rim and no bone defects Category II (28.57%): wide alveolar rim, lateral bone surface concavity. Category III (23.81%): narrow alveolar rim, lateral bone surface concavity. Category IV (2.38 %): distraction transport segment forming a bridge, without bone formed beneath and requiring guided bone regeneration. Category V (9.52%): return of the transport segment to its initial position due to the reverse rotation of the distractor screw. Category VI (4.76 %): distraction transport segment completely lost. Subcategory D (28.57%), consisted of lingual deviation of the distraction axis, occurring in any of the categories I to IV. More men (76.9 %) presented with category I (p<0.001). The use of the chisel resulted mainly in categories I and II (69.4 %) (p<0.001). GBR was only required in 23.1 % of the cases in Category I (p=0.011). The bone height achieved decreases as the category increases, due to the accompanying osteogenic limitations (p<0.001). The implants placed in category I were longer 11.5 ± 0.9 mm (CI95% 10.9-11.9 mm) compared to those placed in category III with a length of 10.4 ± 1.5 mm (CI95% 9.5-11.4 mm) (p=0.035). The alveolar ridge after distraction osteogenesis could be divided into six morphologic categories which provide a useful basis for decision-making regarding implant placement

Biomarkers to predict the onset of biphosphonate-related osteonecrosis of the jaw : a systematic review

The goal of this paper was to identify available biomarkers to predict the onset of biphosphonate-related osteonecrosis of the jaw (BRONJ). Case-control studies comparing the different concentrations of a series of molecules detected in serum and urine as matrices of BRONJ affected patients vs. non-affected were included. PRISMA guidelines for systematic reviews were used for the present paper. Two reviewers independently screened electronic databases (Medline, Web of science, and The Cochrane Library) and performed hand searches. Risk of bias assessment of selected studies was performed by the Newcastle-Ottawa Scale. This study is registered as PROSPERO CRD42017078149. From a total of 601 identified studies, 7 (4 articles with high methodological quality and 3 with medium) articles were included. They investigate 2623 patients, of whom 91 (3.47%) developed BRONJ. A total of 7 biomarkers were identified and classified into 3 groups: bone turnover, angiogenesis and endocrine markers. Conflicting results were found in relation to most biomarkers. The present review suggests that no useful markers are currently available to evaluate BRONJ risk. Nevertheless, the present paper indicates that a paradigm shift from bone turnover biomarkers to angiogenesis and endocrine markers could shed light on this search