New exact treatment of the perturbed Coulomb interactions

A novel method for the exact solvability of quantum systems is discussed and used to obtain closed analytical expressions in arbitrary dimensions for the exact solutions of the hydrogenic atom in the external potential $\Delta V(r)=br+cr^{2}$, which is based on the recently introduced supersymmetric perturbation theory.Comment: 6 pages article in LaTEX (uses standard article.sty). No Figures. Please check "http://www1.gantep.edu.tr/~ozer/" for other studies of Nuclear Physics Group at University of Gaziante

Gamification techniques for raising cyber security awareness

Due to the prevalence of online services in modern society, such as internet banking and social media, it is important for users to have an understanding of basic security measures in order to keep themselves safe online. However, users often do not know how to make their online interactions secure, which demonstrates an educational need in this area. Gamification has grown in popularity in recent years and has been used to teach people about a range of subjects. This paper presents an exploratory study investigating the use of gamification techniques to educate average users about password security, with the aim of raising overall security awareness. To explore the impact of such techniques, a role-playing quiz application (RPG) was developed for the Android platform to educate users about password security. Results gained from the work highlightedthat users enjoyed learning via the use of the password application, and felt they benefitted from the inclusion of gamification techniques. Future work seeks to expand the prototype into a full solution, covering a range of security awareness issues

Does age of onset in essential tremor have a bimodal distribution? data from a tertiary referral setting and a population-based study

Background/Aims: The distribution of age of onset of essential tremor (ET) is unclear, with discrepancies in the literature. Some data suggest a bimodal distribution and other data 1 late-life peak. We studied age of ET onset in 2 distinct settings: a population-based study and a tertiary referral center. Methods: Age of onset data were collected. Results: In the population, there was only a small peak at the age of ≤30 years (14.1% of cases) but a clear peak in later life (85.9% of cases). In the tertiary referral center, a bimodal distribution was apparent with 1 large peak (42.2% of cases) at the age of ≤40 years and the second large peak (57.8% of cases) in later life. Familial cases accounted for only 52.6% of young-onset cases from the population, yet 82.7% from the tertiary center. Discussion: In the population-based study, a peak in later life was clearly present but a young-onset peak was barely discernable, comprising few cases. By contrast, in a tertiary referral center, age of onset was clearly bimodal. While age of ET onset is often said to be bimodal, this may be due to the preferential referral to tertiary centers of patients with young-onset, familial ET

Isolated head tremor : part of the clinical spectrum of essential tremor? data from population-based and clinic-based case samples

Essential tremor (ET) still remains a clinical diagnosis. Nonetheless, it is misdiagnosed in 30 to 50% of cases. There are a number of areas of diagnostic uncertainty. One of these is isolated head tremor, on which published data are limited and at variance. We studied the prevalence of isolated head (i.e., neck) tremor in ET in two population-based studies (Turkey and New York) and a large clinical sample (New York); these 583 ET cases all received the same detailed tremor examination. Head tremor with mild arm tremor occurred in a very small percentage of cases in each sample (1.9 - 3.1%, overall 2.7%). Nearly all of them were women. Head tremor in the complete absence of arm tremor was not observed in any cases (0.0%). These clinical data may be of value to clinicians in practice settings and researchers in phenotyping efforts in the emerging field of ET genetics

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart development using zebrafish. We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart defect (CHD). Using Sanger sequencing we identified two moderately frequent variants in GRK5 with minor allele frequencies <10%, and seven very rare polymorphisms with minor allele frequencies <1%, two of which are novel variants. Given their evolutionarily conserved position in zebrafish, in-depth functional characterisation of four variants (p.Q41L, p.G298S, p.R304C and p.T425M) was performed. We tested the effects of these variants on normal subcellular localisation and the ability to desensitise receptor signalling as well as their ability to correct the left-right asymmetry defect upon Grk5l knockdown in zebrafish. While p.Q41L, p.R304C and p.T425M responded normally in the first two aspects, neither p.Q41L nor p.R304C were capable of rescuing the lateralisation phenotype. The fourth variant, p.G298S was identified as a complete loss-of-function variant in all assays and provides insight into the functions of GRK5

Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia

Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3’UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood. Here, we report an adult female who presented with hypophosphatemic osteomalacia and raised serum FGF23 concentrations. The patient and her parents, who were her only first-degree relatives, had no history of rickets. The patient was thus suspected of having TIO. However, no tumor had been identified following extensive localization studies. Mutational analysis of the PHEX coding-region and 3’UTR was undertaken, and this revealed the patient to be heterozygous for a novel germline PHEX mutation (c.2158G>T; p.Ala720Ser). In vitro studies involving the expression of WT and mutant PHEX proteins in HEK293 cells demonstrated the Ala720Ser mutation to impair trafficking of PHEX, with 80% cell surface expression for WT PHEX (p<0.05). Thus, our studies have identified a pathogenic PHEX mutation in a sporadic case of adult-onset hypophosphatemic osteomalacia, and these findings highlight a role for PHEX gene analysis in some cases of suspected TIO, particularly when no tumor has been identified