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

Genetic aspects of Paget’s disease of bone

Paget’s disease of bone (PDB) is a metabolic bone disease characterized by excessive bone resorption and formation due to increased osteoclasts activity. PDB mostly runs asymptomatically, although increased bone turnover can be present and in approximately 30% of patients bone abnormalities, such as bone pain and deformities, pathological fractures and deafness may occur. The existence of familial aggregation of PDB has been reported in numerous papers, describing the occurrence of disease in successive generations. It has been clearly established that PDB is genetically heterogeneous with several loci able to confer an increased susceptibility to develop this bone metabolic disorder. In particular, the PDB3 locus in chromosome 5q35-qter hosts the sequestosome1/ p62 (SQSTM1/p62) gene whose mutations account for most of the sporadic and familial forms of PDB reported in literature. SQSTM1/p62 gene encodes the SQSTM1/p62 protein, component of the NF-kB signaling pathway and mediating intracellular signaling from IL-1/TNF toward NF-kB, crucial for osteoclast differentiation and activity. A functional study suggests that the S Q S T M 1 mutation may predispose to PDB affecting the interaction between SQSTM1/p62 protein and a hitherto unidentified protein(s) modulating the bone turnover, but the underlying molecular mechanism need to be elucidated. However, independently from the knowledge of the functional aspects of S Q S T M 1 / p 6 2 mutation, the opportunity to perform germline mutational analysis in PDB patients may be helpful in detecting new genetic carriers in potentially familial forms of PDB and in studying the co-segregation of such DNA variants with the PDB phenotype. All together these studies could open new possibilities in the prevention and therapy of PDB and of other metabolic bone disorder

Novel locally active estrogens accelerate cutaneous wound healing-part 2

Estrogen deprivation is associated with delayed healing, while estrogen replacement therapy (ERT) accelerates acute wound healing and protects against development of chronic wounds. However, current estrogenic molecules have undesired systemic effects, thus the aim of our studies is to generate new molecules for topic administration that are devoid of systemic effects. Following a preliminary study, the new 17β-estradiol derivatives 1 were synthesized. The estrogenic activity of these novel compounds was evaluated in vitro using the cell line ERE-Luc B17 stably transfected with an ERE-Luc reporter. Among the 17β-estradiol derivatives synthesized, compounds 1e and 1f showed the highest transactivation potency and were therefore selected for the study of their systemic estrogenic activity. The study of these compounds in the ERE-Luc mouse model demonstrated that both compounds lack systemic effects when administered in the wound area. Furthermore, wound-healing experiments showed that 1e displays a significant regenerative and anti-inflammatory activity. It is therefore confirmed that this class of compounds are suitable for topical administration and have a clear beneficial effect on wound healing

The prognostic value of ultrasound lung comets in patients with pulmonary hypertension

Background: Ultrasound Lung Comets (ULCs) consist of multiple comet tails originating from thickened interlobular septa, due to water or connective tissue accumulation. Therefore they are detectable in patients with several lung diseases. Aim: To assess the prognostic value of ULCs in patients with pulmonary hypertension. Materials and methods: 33 in-hospital patients (age 67?13 years, 16 females) admitted to the Pneumology Division of Clinical Physiology in Pisa with diagnosis of idiopathic or secondary pulmonary hypertension were evaluated upon admission with a comprehensive 2D and Doppler echocardiography, and chest sonography with ULCs assessment. A patient ULC score was obtained by summing the number of comets from each of the scanning spaces in the anterior right and left hemithorax, from second to fifth intercostal spaces. By echocardiography, we measured Tricuspid Annular Plane Systolic Excursion (TAPSE) as an index of right ventricular function, and Pulmonary Artery Systolic Pressure (PASP) from tricuspid regurgitant jet velocity. Results: During the follow-up, 16 events occurred: 4 deaths, 12 new admission for the worsening of symptoms or respiratory function. A ROC analysis identified 14 ULCs as the best diagnostic cut-off to predict events with 94 % sensitivity and 71 % specificity. The 9-months event-free survival was higher in patients with no ULCs and lower in patients with ULCs (see Figure). There was a weak significant correlation between ULCs and PAPs (r=.541, p<.001) and no correlation between ULCs and TAPSE (r=.088, p=ns). Conclusion: ULCs are a simple, user-friendly, radiation-free bedside sign of thickened lung interlobular septa, adding a useful information for straightforward prognostic stratification of patients with pulmonary hypertension

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

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