KBG syndrome mimicking genetic generalized epilepsy.

•Several conditions may mimic Genetic Generalized Epilepsy GGE.•GGE is less frequently misdiagnosed compared to other subtypes of epilepsy.•KBG syndrome is a rare autosomal dominant condition.•KBG syndrome may mimic GGE.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a database of patients with ADTKD in Ireland and report the clinical and genetic characteristics of these families. Methods: We identified patients via the Irish Kidney Gene Project and referral to the national renal genetics clinic in Beaumont Hospital who met the clinical criteria for ADTKD (chronic kidney disease, bland urinary sediment, and autosomal dominant inheritance). Eligible patients were then invited to undergo genetic testing by a variety of methods including panel-based testing, whole exome sequencing and, in five families who met the criteria for diagnosis of ADTKD but were negative for causal genetic mutations, we analyzed urinary cell smears for the presence of MUC1fs protein. Results: We studied 54 individuals from 16 families. We identified mutations in the MUC1 gene in three families, UMOD in five families, HNF1beta in two families, and the presence of abnormal MUC1 protein in urine smears in three families (one of which was previously known to carry the genetic mutation). We were unable to identify a mutation in 4 families (3 of whom also tested negative for urinary MUC1fs). Conclusions: There are 4443 people with ESRD in Ireland, 24 of whom are members of the cohort described herein. We observe that ADTKD represents at least 0.54% of Irish ESRD patients.

Exact relativistic expressions for wave refraction in a generally moving fluid.

The law for the refraction of a wave when the two fluids and the interface are moving with relativistic velocities is given in an exact form, at the same time correcting a first order error in a previous paper [Cavalleri and Tonni, Phys. Rev. E 57, 3478 (1998)]. The treatment is then extended to a generally moving fluid with variable refractive index, ready to be applied to the refraction of acoustic, electromagnetic, or magnetohydrodynamic waves in the atmosphere of rapidly rotating stars. In the particular case of a gas cloud receding because of the universe expansion, our result can be applied to predict observable micro- and mesolensings. The first order approximation of our exact result for the deviation due to refraction of the light coming from a further quasar has a relativistic dependence equal to the one obtained by Einsteins' linearized theory of gravitation.

A comparison between two fourth generation apex locators.

AIM: The aim of this study was to evaluate ex vivo the accuracy of two fourth generation apex locators and compare the measurements obtained. METHODS: Forty single and multiroots of permanent teeth (i.e., sixty-two canals) without caries or restorations were selected. After determining the real canal length using a stereomicroscope and a digital calliper, we evaluated the accuracy of two fourth generation electronic apex locators (the Bingo 1020 and the Propex) by means of an experimental study model and an endodontic simulator. The experimental model uses a digital comparator to determine the root canal length to a precision of 0.001 mm, while the endodontic simulator replicates the normal clinical condition. The difference between the real length of each canal and that obtained with the two study models was calculated. RESULTS: In both experiments, the Bingo 1020 expressed a 94.35% and the Propex expressed a mean accuracy of 90.31% in positioning the file at ± 0.5 mm. CONCLUSION: The Bingo 1020 and the Propex apex locators are equally accurate and provide reliable measurements in calculating root canal length.

Effect of unintentionally extruded mineral trioxide aggregate in treatment of root perforation with periradicular lesion: a case report.

This case report describes the effect of unintentionally extruded mineral trioxide aggregate (MTA) into periradicular lesions on the prognosis of periradicular healing in maxillary right molar with periradicular lesion. A 39-year-old male patient with a periradicular lesion from the root perforation of his maxillary right first molar was referred to our Department. A root canal retreatment was performed and the root perforation was filled with MTA. During this procedure, an unintentionally extrusion of MTA into the periradicular lesion occurred. At follow-up, the tooth was asymptomatic and at radiography a repair of the lesion was evident. No endodontic surgical treatment was necessary. In this case the healing was possible despite the extrusion of the MTA. This might be due to the biologic properties of the MTA.

Two typologies of endodontic instrument handle are here investigated for tactility modifications.

AIM: The purpose of this comparative study was to evaluate possible modifications of tactility (deep and discriminative tactile sensitivity) using manual endodontic instruments equipped with traditional handles compared with innovative silicone handle versions. METHODS: Sixteen subjects were selected and supplied with resin Endo-Training-Block simulators, latex gloves and manual endodontic instruments with diameters ranging from 10 to 40 mm. All instruments had traditional and silicon handles. The investigation of deep and discriminative tactile sensitivity was performed at 0, 15, 30, and 45 minutes of the manual instrumentation with an esthesiometer. We obtain each of our data from the median of three consecutive measurements. The results were then statistically analyzed thanks to the ANOVA test: P=0.003 for subjects, P<0.001 for time factor, and P=0.010 for sensitivity-time interaction. RESULTS: We observed a better tactility with silicone handle instruments, comparing the two kinds of handle (regardless of the finger tested) as well as singly analyzing the thumb and index finger. CONCLUSION: Despite the sample limited extension, the loss of deep cutaneous and discrimination sensitivity seems to be reduced using silicone handles, most likely favoring an improvement of the working performance.

The corrosive effects of sodium hypochlorite on nickel-titanium endodontic instruments: assessment by digital scanning microscope.

AIM: Prolonged contact (several hours) of nickel-titanium (NiTi) endodontic instruments with sodium hypochlorite has a considerable corrosive effect which reduces the instruments' resistance to fractures. The aim of this study was to verify whether short-term contact (several minutes, as is the case in clinical practice) produces the same effects. METHODS: Using a digital scanning microscope, the blade surfaces of three groups of ProTaper instruments were examined, particularly of the #1 Shaping File. The blade's file (but not their handles) were soaked in sodium hypochlorite heated to 50 degrees C for three different times compatible with times in clinical practice, rather for 2, 5 and 10 minutes; the files were then compared with a control group. RESULTS: The micro-photographs did not reveal any appreciable signs of corrosion on the file blades. CONCLUSIONS: It is evident, therefore, that using sodium hypochlorite as an irrigating solution in root canals, where it comes into contact with NiTi rotary endodontic instruments, does not alter the surface structure of the files through corrosion. Thus it is possible to conclude that, considering the length of time used in clinical practice, sodium hypochlorite does not cause any increase of risk of fracture to Ni-Ti rotary instruments.

No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.

Levetiracetam (LEV), a newer antiepileptic drug (AED) useful for several epilepsy syndromes, binds to SV2A. Identifying genetic variants that influence response to LEV may allow more tailored use of LEV. Obvious candidate genes are SV2A, SV2B and SV2C, which encode the only known binding site, synaptic vesicle protein 2 (SV2), with LEV binding to the SV2A isoform. SV2A is an essential protein as homozygous SV2A knockout mice appear normal at birth but fail to grow, experience severe seizures and die by 3 weeks. We addressed characterising AED response issues in pharmacogenetics and whether variation in these genes associates with response to LEV in two independent cohorts with epilepsy. We also investigated whether variation in these three genes associated with epilepsy predisposition in two larger cohorts of patients with various epilepsy phenotypes. Common genetic variation in SV2A, encoding the actual binding site of LEV, was fully represented in this study whereas SV2B and SV2C were not fully covered. None of the polymorphisms tested in SV2A, SV2B or SV2C influence LEV response or predisposition to epilepsy. We found no association between genetic variation in SV2A, SV2B or SV2C and response to LEV or epilepsy predisposition. We suggest this study design may be used in future pharmacogenetic work examining AED or LEV efficacy. However, different study designs would be needed to examine common variation with minor effect sizes, or rare variation, influencing AED or LEV response or epilepsy predisposition.

Bending properties of nickel-titanium instruments: a comparative study.

AIM: The aim of the present study was to evaluate the bending properties of twisted file instruments, and compare them with other commercially available nickel-titanium (NiTi) instruments (Mtwo and Hero) manufactured with traditional methods. METHODS: Despite NiTi superelastic properties, flexibility of NiTi instruments is limited by size and taper. A new manufacturing process involving twisting of a ground blank combined with heat treatment has been developed by SybronEndo, aiming to produce a NiTI rotary file with superior flexibility: the Twisted File (TF). Experimental procedures strictly followed the testing methodology described in ISO 3630-1. Bending moment was measured when the instrument attained a 45 degrees bend. Data were collected and statistically analyzed. RESULTS: Results showed that TF were the most flexible instruments, with a significant improvement in flexibility (P< 0.05). ranging from 100% to 250% over the other tested instruments. Even if flexibility is also influenced by instruments design, such a great improvement is mainly related to the new TF manufacturing process. CONCLUSION: The flexibility is influenced by instruments design, such a great improvement is mainly related to the new manufacturing process developed by SybronEndo, which seems to play a major role in increasing the flexibility of TF instruments.

Comment on "Analog of Planck's formula and effective temperature in classical statistical mechanics far from equilibrium".

The attempt of Carati and Galgani [Phys. Rev. E 61, 4791 (2000)] to derive the Planck formula as though it were due to long relaxation times is shown to be correct only if there is a single temperature and therefore no transients.

Exacerbation, then clearance, of mutation-proven Darier's disease of the skin after radiotherapy for bronchial carcinoma: a case of radiation-induced epidermal differentiation?

We investigated a radiotherapy-induced flare and subsequent clearance of skin lesions of a patient with the rare, dominantly inherited genodermatosis, Darier's disease (DD). The DD gene, ATP2A2, was recently isolated and shown to be a cation pump responsible for regulating intracellular calcium homeostasis. A severe exacerbation of Darier's skin lesions developed within the radiation field when 40 Gy of palliative thoracic external-beam radiation therapy and concurrent chemotherapy (cisplatin and hydroxyurea) were delivered for non-small cell lung cancer. The DD lesions subsequently completely cleared from irradiated skin, as they did when a subsequent course of radiation alone was given for a loco-regional tumor recurrence. The two radiation therapy-treated areas of skin remained free from lesions of the skin disorder until the patient's death from progressive lung cancer 9 months later. The nucleotide sequence of the patient's ATP2A2 gene was determined by PCR-based cycle sequencing. We identified four nucleotide sequence variants in the ATP2A2 gene in this patient. Three were probable polymorphisms and the other appeared to be a novel disease-causing mutation (R751Q), situated in the transmembrane portion of the ATP2A2 protein. This finding confirmed the clinical diagnosis. Since epidermis turns over every 3-4 weeks, total and persistent clearance of the DD lesions by chemoradiotherapy suggests that this treatment induced sustained differentiation of the DD-affected skin by an unknown mechanism. Oncologists treating malignant disease in patients with DD should anticipate temporary deterioration in DD-involved irradiated skin. Radiation therapy has therapeutic potential in severe DD.

Reply to "Comment on 'Experimental proof of standard electrodynamics by measuring the self-force on a part of a current loop' "

Our paper [Phys. Rev. E 58, 2505 (1998)] described experimental results that brought into agreement standard theory and experiment, in contrast to two previous experiments that claimed disagreement. The shape of our circuit was designed to improve knowledge of the electric flux lines. Such a shape required numerical calculations to predict the relevant force on the mobile part of the circuit.

A new matrix in esthetic posterior restorations.

Using composite resins in posterior esthetic restorations has become more acceptable in recent years as a result of improvements in materials. For this reason, innovative products such as Luciwedge and the SuperMat System have gained the attention of many practitioners. SuperMat, an improved translucent matrix, offers a new approach to matrices for use with multimaterial fillings. It makes the procedure easier and offers many other advantages, particularly in composite-compomer restorations.

In vitro evaluation of the cytotoxicity of pure eugenol.

The aim of this study was to assess the cytotoxicity of pure eugenol in an in vitro method by diluting it to various concentrations in alcohol and determining the maximum noncytotoxic concentration. We used solutions of eugenol and ethyl alcohol that are soluble in water in any given proportion. The cytotoxicity of the alcohol itself was determined by using a dose-response curve for concentrations of between 0.017 M and 1.7 M. Various strength concentrations (0.015 to 947 microM) of eugenol in alcohol were prepared; 20 microliters (0.34 M) of ethyl alcohol was added to 1 ml of cell medium. The experiment showed that pure eugenol is toxic for human gingival fibroblasts. Eugenol in an alcohol solution at concentrations of < 1.9 microM is noncytotoxic.

Traumatic crown fractures in permanent incisors with immature roots: a follow-up study.

A follow-up study of crown fractured permanent incisors with incomplete root formation was carried out in a group of patients, aged 6-12 years, over a 5-year period in the Dental Clinic of the University of Verona, Italy. The number of injured patients was 55, representing 84 injured incisors. All patients were followed clinically and radiographically using a standardized follow-up protocol. The most common type of trauma was fracture of enamel and dentine without pulpal exposure (80%) and the most common type of treatment was restoration with the acid-etch composite resin technique (46%). Bonding of the crown fragment was performed in 10 instances (12%). At the 5-year-control all teeth with fracture of the enamel had no pulp complications. Four of 67 teeth (6%) with fracture of the enamel and dentine without pulpal involvement showed pulp necrosis and 1 tooth showed pulp obliteration (1.5%). Eight of 14 teeth (57%) with fractures of the enamel and dentine with pulp involvement showed pulp necrosis. Aesthetically 36 of the restored teeth were deemed satisfactory (43%). In 9 teeth the bonded fragment had to be rebonded. 14 teeth were considered unsatisfactorily restored due to wear of the composite (17%). 34 restored teeth had to be retreated because of a new trauma (40%). In one tooth a previous bonded fragment had to be rebonded. These results confirmed that crown fractures without pulp involvement in permanent incisors with incomplete root formation hav a low percentage of pulp complications, while 60% of the teeth with crown fractures with pulp involvement had pulp complications.

Cytotoxicity evaluation of six root canal sealers.

Cell cultures of human gingival fibroblasts obtained from healthy patients were used to evaluate the toxicity of six different endodontic cements: AH-26, Pulp Canal Sealer, Rocanal-R2, Rocanal-R3, Bioseal, and Endomethasone. The toxicity was determined by measuring spectrophotometrically at 405 nm the colorimetric reaction of N-acetyl-beta-hexosaminidase, an endogenous enzyme, with the chromogenic substrate [p-nitrophenol-N-acetyl-beta-D-glucosamide (NAG)]. Severe cytotoxicity was observed in the 1- and 2-wk test solutions of AH-26. Pulp Canal Sealer and Endomethasone showed low cytotoxicity in the 1- and 2-wk test solutions at 24, 48, and 72 h. Moderate cytotoxicity was observed in the 1- and 2-wk test solutions of Bioseal, except at 48 and 72 h of 1-wk test solutions. Rocanal-R2 showed severe cytotoxicity in the 1-wk test solutions at 48 and 72 h, and in the 2-wk test solutions at 24, 48, and 72 h. Moderate cytotoxicity was seen in the 1- and 2-wk test solutions of Rocanal-R3 only at 24 h.