The earthquake lights (EQL) of the 6 April 2009 Aquila earthquake, in Central Italy

Abstract. A seven-month collection of testimonials about the 6 April 2009 earthquake in Aquila, Abruzzo region, Italy, was compiled into a catalogue of non-seismic phenomena. Luminous phenomena were often reported starting about nine months before the strong shock and continued until about five months after the shock. A summary and list of the characteristics of these sightings was made according to 20th century classifications and a comparison was made with the Galli outcomes. These sightings were distributed over a large area around the city of Aquila, with a major extension to the north, up to 50 km. Various earthquake lights were correlated with several landscape characteristics and the source and dynamic of the earthquake. Some preliminary considerations on the location of the sightings suggest a correlation between electrical discharges and asperities, while flames were mostly seen along the Aterno Valley

The contribution of Chromosomal Microarray Analysis to the Identification of Microdeletion/Microduplication syndromes associated with Intellectual Disability

Chromosomal Microarray Analysis (CMA) is currently considered to be the first-tier clinical test for neurodevelopmental disorders, such as Intellectual Disability (ID)/ Developmental Delay (DD) and Autism Spectrum Disease (ASD) due to its ability to detect Copy Number Variants (CNVs). CNVs are defined as segments of DNA which might either be deleted or duplicated and represent the most prevalent type of structural variation in the human genome. Recently, they have been found to be the causative agent for approximately 15-20% of previously undiagnosed cases of neuro developmental disorders. The unceasingly growing number of microdeletion and microduplication syndromes (MMSs), identified through CMA, has significantly altered the diagnostic approach to disorders such as ID and ASD.

Tics and Swearing: a review of recent genetic data concerning Tourette Syndrome

Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by a series of vocal and motor tics. It usually appears on childhood and affects 0.3-0.9% of the population, with the incidence ratio of boys: girls being 4:1. TS has a complex pathogenic basis, including genetic, epigenetic and environmental factors. It shows great heritability, but the underlying genetic etiology remains unclear. The purpose of this study was the review of the most important recent genetic discoveries concerning TS. The research was conducted mainly through studies and scientific articles dating 2010 and after. Over the last few years, genetic research over TS has linked the disease with SNPs (single nucleotide polymorphisms) and CNVs (copy number variants) of specific genes, mainly involved in the dopaminergic and serotoninergic path. Many genes have been associated with the disease, including DRD2 and D4 (dopamine receptors D2 and D4), DAT1 (dopamine transporter 1), TPH2 (tryptophan hydroxylase), MAO-A (monoamine oxidase -Α), with more recent studies pointing towards NRXN1 (neurexin 1) and CNTN6 (contactin 6) genes. A mutation of a gene leading to insufficiency of histamine decarboxylase has been named as a risk factor for the syndrome. In other studies, CNVs in AADAC (arylacetamide deacetylase) gene have also showed possible involvement in the onset and course of TS. Moreover, a recent genome-wide study associated an SNP in gene COL27A1 (collagen type ΧΧVΙΙ, alpha 1) with the disease. The recent genetic data in this field has led to the establishment of experimental genetically targeted therapies. Further scientific research over the genetics of TS is deemed necessary, as it can potentially lead to a personalized gene-targeted therapy to TS

Analysis of NOAA particle data and correlations to seismic activity

Abstract. A decade of NOAA-15 particle flux data offers an opportunity to test claims of correlations between seismic activity and effects on the ionosphere. Over the last two decades, potentially interesting observations in the ionosphere-magnetosphere transition region have been investigated. Specifically these consists of anomalous particle fluxes detected by several space experiments and correlated with the earthquake occurrence. These particle fluxes are characterised by anomalous short-term and sharp increases in high energy particle counting rates, referred to as particle bursts. In this work, more general rules for particle bursts selection have been defined and tested on the NOAA database, for particles inside and outside the South Atlantic Anomaly region. The whole period of ten years burst activity from NOAA-15 database is reported. Data from four satellites, NOAA-15, 16, 17 and 18, were analyzed during periods of solar quiet activity in connection with strong earthquakes, revealing presence of bursts detected on more than one satellite close to the time of the same seismic events. This preliminary study presented here concentrates on periods of major Indonesian earthquakes from 1998 to date, including Sumatra event M=9, during which geomagnetic Ap index was less than 16 and with no sudden ionospheric disturbances. During this period particle burst temporal distributions have shown some correspondence with earthquake times. The limits of the analysis presented in this papers are discussed as well as prospects for future work

Pompe disease: genetics and management

Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the lysosomal hydrolase acid alpha-glucosidase, resulting in accumulation of glycogen in various tissues. It affects primarily the skeletal, smooth muscle and cardiac system. Pompe disease clinically presents as a continuum in its age of onset and multisystem involvement and is often fatal. Diagnosis can be difficult due to nonspecific phenotype of the disease. Enzyme replacement therapy (ERT) is the standard treatment for the disease since 2006. Although of considerable clinical benefit to some patients, there are significant limitations to ERT. Studies in novel therapeutic approaches show positive outcomes. In the context of therapeutic options, the earliest diagnosis and initiation of treatment can make a difference. Early identification through newborn screening and more effective therapies will hopefully lead to improved outcomes for patients with Pompe Disease

LRRK2 and Parkinson’s disease

The identification of the leucine-rich repeat kinase 2 (LRRK2) gene was a breakthrough in the area of Parkinson’s disease (PD) genetics. Mutations throughout the whole gene have been associated with both familial and sporadic PD, in unprecedented percentages, with G2019S mutation being today the most common genetic cause of the disease. This review will describe current knowledge on G2019S mutation, the multidomain structure of LRRK2 protein, its function and implication in PD pathogenesis

Hydrolysis of cefazolin by enzymes produced by Pseudomonas aeruginosa after exposure to ceftazidime in vitro

Background/Aim. Sometimes resistance of Pseudomonas aeruginosa (Ps. aeruginosa) is developed during antibiotic treatment, in spite of the initial susceptibility in vitro. The aim of this study was to use an in vitro model for the study of the development of resistant strains of Ps. aeruginosa after a short exposure to ceftazidime, and to study the hydrolysing capacity of β-lactamases produced by the resistant strains. Methods. Among 563 clinical strains of Ps. aeruginosa, 37 multisensitive strains were collected for the study. After being identified, strains with simultaneous sensitivity to 5 expanded spectrum cephalosporins were chosen. For each strain, the minimal inhibitory concentration (MIC) of the 5 expanded spectrum cephalosporins was determined, and the production of extended spectrum β-lactamases (ESBL) was excluded by the double-disc synergy diffusion test. Strains non producing ESBL were cultivated in concentrations of ceftazidime equal to MIC×2 and MIC×4. After 24 hours of culture, the development of resistant strains was estimated and the cephalosporinase activity of the produced β-lactamases was determined by their ability to hydrolyse cefazolin. Hydrolysis of cefazolin was studied by measuring the change of its absorbance on 272 nm using a Shimadzu 160A spectrophotometer. The hydrolyzing capacity of the enzymes was expressed as the percentage of the antibiotic, which was hydrolysed in 10 sec. Results. A total of 60% and 50% of strains developed resistant strains after exposure to ceftazidime in concentration MIC×2 and MIC×4, respectively. The hydrolyzing capacity of the original strains was 15-36% while the hydrolyzing capacity of the resistant strains was 10-73%. Totally 64% of the resistant strains expressed higher hydrolyzing capacity than the original strains. Conclusion. Regardless of the susceptibility test results, Ps. aeruginosa presented a high tendency to develop resistant strains after a short exposure to ceftazidime in vitro. In most cases the resistant strains expressed higher cephalosporinase activity than the original strains, suggesting derepression of chromosomal β-lactamases. Our model offers a simple, inexpensive and rapid method for detecting resistance of Ps. aeruginosa developed due to derepression of β-lactamases, and for discriminating resistant strains with derepressed β-lactamases from strains that developed other mechanisms of resistance

Association of the cerebral dopamine neurotrophic factor (CDNF) gene intron 1 polymorphism rs11259365 with Parkinson’s disease in the Greek population

Cerebral dopamine neurotrophic factor (CDNF) is a newly identified neurotrophic factor. In this study, we examined the CDNF rs11259365 polymorphism in 53 Greek patients with sporadic Parkinson’s disease (PD) and 52 control subjects, using a PCR-RFLP method. No association was found between this polymorphism and PD, in the Greek population

Sustainable Management of Water Resources in Urban Areas as an Integrated Part of Urban Planning

Urban planning plays a key role in the global response to climate change and its impact on water resources. Therefore, the management of water resources and their consideration in sustainable urban planning is a challenge for planners, which will be increasingly emphasized in the future. In this paper, by comparing the current situation in the city of Gostivar in R.N.Macedonia and the planned situation with the General Urban Plan, the possibilities for greater respect for water resources in urban development are perceived. It is concluded that, for the specific case in urban planning, there are opportunities to improve water resources management, as an important segment of sustainable urban development. It is recommended that the management of water resources in urban areas be fully integrated into the urban planning process, in order to create conditions for sustainable urban development

Presence of endogenous prednisolone in human urine

The possibility of an endogenous presence of the glucocorticoid prednisolone has already been demonstrated in bovine and horse urine, with the aim of clarifying its origin in this matrix, which is used by official agencies for the control of illicit treatments. From this point of view, the endogenous nature of prednisolone could be a major topic in doping control of both amateur and professional human athletes. A study was therefore made on 34 human volunteers (13 males and 21 females; aged 22–62) to detect the presence of prednisolone in their urine by HPLC–MS3. One of the volunteers underwent vernal allergy treatment with betamethasone for two subsequent years. An investigation was carried out with the aim of verifying if the suppression, and the circadian rhythm, of cortisol urinary levels could also apply to prednisolone. The results of the study show that prednisolone was present in the urine of all 34 volunteers, with a concentration very close to 100-times lower that of cortisol, with no dependence on gender. The same ratio (1/100) was observed in the prednisolone and cortisol levels detected during the 24 h together with the suppression of prednisolone by betamethasone treatment. These data demonstrate the endogenous nature of low concentrations of prednisolone in human urine, and motivate further studies about the biosynthetic pathways of this corticosteroid and its relationship with stress in humans, as already described in cows