A Landscape Approach for Detecting and Assessing Changes in an Area Prone to Desertification in Sardinia (Italy)

Land degradation and desertification processes represent a serious problem in many areas of Sardinia (Italy), as in the Nurra region where urbanization, overgrazing, and fires have induced environmental degradation and rapid land-use change. In this study, using satellite remote sensing and geographical information system, landcover and landscape change dynamics were investigated. Comparing two Landsat-5 Thematic Mapper, it was possible to assess landcover transformations, and with the FRAGSTATS software it was possible to quantify the changes of landscape characteristics in the Nurra region over a 10-years period. The images were classified into seven landcover types, and a stepwise indicator approach was adopted. The results show a decrease in cropland and an increase of forestland and urban areas. The overall change was estimated to be about 2.5% of the total study area, with two most frequent landcover conversion types: cropland to urban areas and cropland to forestland

Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice

Pharmacogenetics of osteoporosis

Osteoporosis is a complex bone disorder with a strong genetic basis. The genetics of osteoporosis encompasses two main areas: genetics of disease susceptibility and pharmacogenetics of drug response. The former has been widely studied in the past few decades, while the latter is still largely untouched. This review will provide an overview of the pharmacogenetics of osteoporosis, focusing on the major recent advances in the past two years

Genetic Determinants of Osteoporosis: Common Bases to Cardiovascular Diseases?

Osteoporosis is the most common and serious age-related skeletal disorder, characterized by a low bone mass and bone microarchitectural deterioration, with a consequent increase in bone fragility and susceptibility to spontaneous fractures, and it represents a major worldwide health care problem with important implications for health care costs, morbidity and mortality. Today is well accepted that osteoporosis is a multifactorial disorder caused by the interaction between environment and genes that singularly exert modest effects on bone mass and other aspects of bone strength and fracture risk. The individuation of genetic factors responsible for osteoporosis predisposition and development is fundamental for the disease prevention and for the setting of novel therapies, before fracture occurrence. In the last decades the interest of the Scientific Community has been concentrated in the understanding the genetic bases of this disease but with controversial and/or inconclusive results. This review tries to summarize data on the most representative osteoporosis candidate genes. Moreover, since recently osteoporosis and cardiovascular diseases have shown to share common physiopathological mechanisms, this review also provides information on the current understanding of osteoporosis and cardiovascular diseases common genetic bases

Management impact: effects on quality of life and prognosis in MEN1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. As the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first-degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counseling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification. The MEN1 genetic test helps the specific diagnosis of probands, and allows the early identification of asymptomatic carriers, strongly contributing, together with progressions in tumor diagnostic techniques and in pharmacological and surgical therapeutic approaches, to the reduction of morbidity and mortality associated with the syndrome. International clinical guidelines for MEN1 have been drafted by panels of specialists in the field, with the main goal to improve the management of the disease and grant patients a better quality of life. Here, we review main recommendations and suggestions derived by the last published general guidelines in 2012, and by most recent published studies about MEN1 syndrome diagnosis, clinical management, therapeutic approaches and patients’ quality of life.</jats:p

Emotional regulation and overeating behaviors in children and adolescents: a systematic review

The worldwide prevalence of obesity has dramatically increased, mostly in children and adolescents. The Emotional Eating theoretical model has proposed that the failure in emotional regulation could represent a risk factor for establishing maladaptive overeating behavior that represents an inadequate response to negative emotions and allows increasing body-weight. This systematic review investigates the relationship between overeating and both emotional regulation and emotional intelligence in childhood and adolescence, considering both cross-sectional and longitudinal studies. Moreover, another goal of the review is evaluating whether emotional regulation and emotional intelligence can cause overeating behaviors. The systematic search was conducted according to the PRISMA-statement in the databases Medline, PsychArtcles, PsychInfo, PubMed, Scopus, and Web of Sciences, and allows 484 records to be extracted. Twenty-six studies were selected according to inclusion (e.g., studies focused on children and adolescents without clinical conditions; groups of participants overweight or with obesity) and exclusion (e.g., studies that adopted qualitative assessment or cognitive-affective tasks to measure emotional variables; reviews, commentary, or brief reports) criteria detailed in the methods. Cross-sectional studies showed a negative association between emotional regulation and overeating behavior that was confirmed by longitudinal studies. These findings highlighted the role of maladaptive emotion regulation on overeating and being overweight. The relationship between these constructs in children and adolescents was consistent. The results indicated the complexity of this association, which would be influenced by many physiological, psychological, and social factors. These findings underline the need for further studies focused on emotion regulation in the development of overeating. They should analyze the mediation role of other variables (e.g., attachment style, peer pressure) and identify interventions to prevent and reduce worldwide overweight prevalence

proprioceptive identification of joint position versus kinaesthetic movement reproduction

Abstract Regarding our voluntary control of movement, if identification of joint position, that is independent of the starting condition, is stronger than kinaesthetic movement reproduction, that implies knowledge of the starting position and movement's length for accuracy, is still a matter of debate in motor control theories and neuroscience. In the present study, we examined the mechanisms that individuals seem to prefer/adopt when they locate spatial positions and code the amplitude of movements. We implemented a joint position matching task on a wrist robotic device: this task consists in replicating (i.e. matching) a reference joint angle in the absence of vision and the proprioceptive acuity is given by the goodness of such matching. Two experiments were carried out by implementing two different versions of the task and performed by two groups of 15 healthy participants. In the first experiment, blindfolded subjects were asked to perform matching movements towards a fixed target position, experienced with passive movements that started from different positions and had different lengths. In the second experiment, blindfolded subjects were requested to accurately match target positions that had a different location in space but were passively shown through movements of the same length. We found a clear evidence for higher performances in terms of accuracy ( 0.42 ± 0.01 1 / ° ) and precision ( 0.43 ± 0.01 1 / ° ) in the first experiment, therefore in case of matching positions, rather than in the second where accuracy and precision were lower ( 0.36 ± 0.01 1 / ° and 0.35 ± 0.01 1 / ° respectively). These results suggested a preference for proprioceptive identification of joint position rather than kinaesthetic movement reproduction

Geomorphological classification of urban landscapes. The case study of Rome (Italy)

The results of a long-lasting geomorphological survey carried out in Rome are summarized. A method aimed at integrating survey data, historical maps, aerial photographs and archaeological and geomorphological literature produced a geomorphological map of the present-day historical centre. The geomorphology of Rome is related to the paleogeographical conditions prior to the founding of the City; they allow us to recognize the stages of landscape evolution of the ancient Caput Mundi (Capital of the World). The study area has been affected by continuous man-made changes to the drainage network and to the topographic surface over the last 3000 years. It has forced the authors to develop innovative solutions to undertake effective analysis of the urban environment and the legend of the geomorphological map in this peculiar context. The resulting map is useful for urban planning and archaeological research

pharmacogenetics of metabolic bone diseases

Individual drug response results to be highly variable among treated patients for many of the most commonly prescribed drugs. Common sequence variants in the human genome are today believed to be the main cause of different individual drug response. Pharmacogenetics applies the principles of both pharmacology and genetics, for the discovery and validation of functional gene polymorphisms that could be relevant in the modulation of the pharmacodynamics and pharmacokinetics of drugs, in order to be able to predict the personal response to drugs both in terms of beneficial and adverse effects. A more and more growing number of pharmacogenetic studies have been performed in the last decade, but, to date, only few of them have validated clinical application. This is even more true in the field of bone disorders in which pharmacogenetic studies are still very limited. This review will offer an overview on current pharmacogenetic applications, especially focusing on pharmacogenetic studies in the field of osteoporosis and metabolic bone diseases