Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.

BACKGROUND: Monosomy 1p36 is the most common terminal deletion syndrome with an autosomal dominant pattern of inheritance. This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all patients and about the 90% of patients have a severe intellectual disability. Dental agenesis or other dental anomalies have not been described in previous reports. CASE PRESENTATION: We report the case of two little sisters born from healthy and non-consanguineous parents, presenting with dental anomalies and one of them with epilepsy, dilated cardiomyopathy with left-ventricular non-compaction, strabismus, history of poor growth, hypotonia and mild language delay. Patients were evaluated in several departments (genetic, child neuropsychiatric, cardiology, odontostomatology, ophthalmology, otorhinolaryngology) of Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. They underwent investigations such as electrocardiogram, echocardiogram, dental orthopantomography X-Ray and Computed Tomography, electroencephalograms, abdomen ultrasound, blood tests, IQ tests, genetic analysis. They both have an Intelligence Quotient greater than 70 and a negative neurologic exam. Each sister carries the same 1p36 deletion of about 2.3 Mb. Genetic analysis of the parents' blood samples (Single Nucleotide Polymorphism- array, karyotype and Fluorescent In Situ Hybridization) did not reveal any deletion, translocation or inversion and confirmed the paternity. A third sib of the probands does not carry the 1p36 deletion or other quantitative alterations. CONCLUSION: This report describes a new trait linked to monosomy 1p36, namely a mild intellectual outcome associated with significant dental anomalies. Our finding suggests that 1p36 deletion syndrome may present with a mild cognitive impairment or even with a normal intellectual development: this is very important for the genetic counselling, especially in a prenatal setting. Moreover, we report the third study with recurrent 1p36 deletion syndrome in two siblings, likely due to germline mosaicism. Finally, we believe that the dental anomalies should be investigated in 1p36 deletion syndrome and that the spectrum of the condition could be broader than we assume.

An international study to revise the EORTC questionnaire for assessing quality of life in lung cancer patients.

BACKGROUND: The European Organization for Research and Treatment of Cancer (EORTC) QLQ-LC13 was the first module to be used in conjunction with the core questionnaire, the QLQ-C30. Since the publication of the LC13 in 1994, major advances have occurred in the treatment of lung cancer. Given this, an update of the EORTC QLQ-LC13 was undertaken. METHODS: The study followed phases I to III of the EORTC Module Development Guidelines. Phase I generated relevant quality-of-life issues using a mix of sources including the involvement of 108 lung cancer patients. Phase II transformed issues into questionnaire items. In an international multicenter study (phase III), patients completed both the EORTC QLQ-C30 and the 48-item provisional lung cancer module generated in phases I and II. Patients rated each of the items regarding relevance, comprehensibility, and acceptance. Patient ratings were assessed against a set of prespecified statistical criteria. Descriptive statistics and basic psychometric analyses were carried out. RESULTS: The phase III study enrolled 200 patients with histologically confirmed lung cancer from 12 centers in nine countries (Cyprus, Germany, Italy, Israel, Spain, Norway, Poland, Taiwan, and the UK). Mean age was 64 years (39 - 91), 59% of the patients were male, 82% had non-small-cell lung cancer, and 56% were treated with palliative intent. Twenty-nine of the 48 questions met the criteria for inclusion. CONCLUSIONS: The resulting module with 29 questions, thus currently named EORTC QLQ-LC29, retained 12 of the 13 original items, supplemented with 17 items that primarily assess treatment side-effects of traditional and newer therapies.

LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development.

OBJECTIVES: Chronic periodontitis is a common pathological condition that affects the supporting tissue of the teeth, leading to progressive alveolar bone destruction and teeth loss. The disease is caused by bacteria and derives from an altered host immune and inflammatory response, also involving different factors such as the oral hygiene, smoking, and genetic background. The innate immune response, the first line of host defense, could also play an important role in the susceptibility to chronic periodontitis. In this study, we evaluated the possible association between periodontal disease and seven genetic variations within DEFB1 and LTF genes, encoding for ß-defensins 1 and lactoferrin (two members of oral innate immune system), in an Italian isolated population. SUBJECTS AND METHODS: DEFB1 5'UTR g. -52G>A (rs1799946), g. -44C>G (rs1800972), g. -20G>A (rs11362), 3'UTR c*5G>A (rs1047031), c*87A>G (rs1800971), LTF p.Ala29Thr (rs1126477), and p.Lys47Arg (rs1126478) single nucleotide polymorphisms (SNPs) were analyzed in 155 healthy individuals and 439 chronic periodontitis patients from North-East Italy. RESULTS: Significant associations were found between periodontitis and g. -20G>A (rs11362) and g. -44C>G (rs1800972) SNPs in DEFB1 gene as well as p.Ala29Thr (rs1126477) and p.Lys47Arg (rs1126478) SNPs in LTF gene. DISCUSSION: Our results suggest the involvement of DEFB1 and LTF genetic variations in the susceptibility toward development of periodontitis.

Degree of Conversion of Self-etch Adhesives: In Situ Micro-Raman Analysis.

PURPOSE: Degree of conversion (DC) affects the physicochemical properties of dental adhesives. The aim of this study was to measure the DC within the hybrid layer of four one-step self-etch adhesives using Raman microspectroscopy. The hypothesis tested was that there was no difference among the tested adhesives. METHODS AND MATERIALS: The selected one-step self-etch adhesives (Clearfil S3 Bond Plus, I-BOND, G-BOND, and Adper Easy Bond) were applied on human dentin disks and polymerized in accordance with the manufacturers' instructions. Specimens were transversally cut to expose the bonded interfaces to the micro-Raman beam, and Raman spectra were collected along the dentin/adhesive interface. Measurements were performed at 1-µm intervals. The relative intensities of bands associated with the C=C bond (at 1640 cm-1) and an internal stable peak (1610 cm-1) were determined to calculate the degree of conversion within the hybrid layer. Data were statistically analyzed with Kolmogorov-Smirnov and Bartlett tests and Kruskal-Wallis and Mann-Whitney U-tests. RESULTS: The DC ranked as follows: G-BOND (93%±6%) ≥ Adper Easy Bond (92%±6%) ≥ I-BOND (89%±7%) > Clearfil S3 Bond Plus (80%±14%) (p<0.05). CONCLUSIONS: Based on the results of this study, all of the tested self-etch adhesives showed a clinically acceptable DC that was material dependent.

The effects of two 10% carbamide peroxide nightguard bleaching agents, with and without desensitizer, on enamel and sensitivity: an in vivo study.

OBJECTIVES: This study aimed to compare the effects of two 10% carbamide peroxide (CP) agents with or without desensitizers on tooth sensitivity, colour and enamel morphological changes. METHODS: Twenty subjects used a 10% carbamide peroxide gel with or without fluoride and potassium nitrate for 2 weeks. Sensitivity, spectrophotometric evaluation of colour and morphological analyses of replicas with scanning electron microscope (SEM) were performed before and after treatment. All data were analysed statistically. RESULTS: Both bleaching agents induced sensitivity; however, the 10% CP bleaching agent with fluoride and potassium nitrate produced significantly lower sensitivity (P < 0.05) than the bleaching product without desensitizing agents. In spectrophotometric evaluation, no difference in bleaching effectiveness was found between the tested bleaching gels, and the SEM analysis confirmed the absence of relevant alterations of the enamel surface in both groups. CONCLUSION: The use of 10% carbamide peroxide gel with fluoride and potassium nitrate reduced the incidence of sensitivity during the bleaching treatment compared to a bleaching agent that did not contain desensitizing agents. The bleaching effectiveness of the tested products was comparable.

Kinetics of polymerization and contraction stress development in self-adhesive resin cements.

OBJECTIVES: The aim of the study was to evaluate the contraction stress, microhardness and polymerization kinetics of three self-adhesive cements vs. conventional dual-cure resin cement. METHODS: Cements tested were: RelyX Unicem (3M ESPE, St. Paul, MN, USA), MaxCem Elite (Kerr, Orange, CA, USA), Clearfil SA Cement (Kuraray, Tokyo, Japan) and Duolink (Bisco Inc., Schaumburg, IL, USA). Cements were irradiated with a LED-curing unit (bluephase, IvoclarVivadent) for 20 or 40 s and the contraction forces (N) generated during polymerization were continuously recorded for 6 h with a universal testing machine. Polymerization kinetics were monitored using micro-Raman spectroscopy and degree of conversion was calculated. Vickers microhardness was also recorded. All measurements were performed at 10 min and 6h. Data were statistically analyzed by three-way ANOVA with repeated measures and Tukey's post hoc test (α=0.05). RESULTS: Irrespective of exposure time, stress analysis ranked in the following order: Clearfil SA Cement

[Acute appendicitis in the elderly (author's transl)]. / Apendicitis aguda en el viejo.

The mortality rate and clinical, analytical, radiographic and pathologic data from 31 patients with acute appendicitis over 60 years of age are compared to those from 100 patients under 60. The elderly group showed a greater delay in medical consulting, a more diffuse abdominal pain and a greater incidence of perforated and gangrenous appendicitis. This last fact could be related not only to the consulting delay, but also to the own characteristics of the aged appendix. There were no significant differences between both groups regarding analytical results and radiographic findings. Mortality rate was 13 percent in the elderly, while it was null in the younger series.