la fine della possibilita del diritto

La solitudine dell\u27"uomo

Perineal groove: A rare congenital malformation

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Geocoding health data with Geographic Information Systems: a pilot study in northeast Italy for developing a standardized data-acquiring format

Introduction. Geographic Information Systems (GIS) have become an innovative and somewhat crucial tool for analyzing relationships between public health data and environment. This study, though focusing on a Local Health Unit of northeastern Italy, could be taken as a benchmark for developing a standardized national data-acquiring format, providing a step-by-step instructions on the manipulation of address elements specific for Italian language and traditions. Methods. Geocoding analysis was carried out on a health database comprising 268,517 records of the Local Health Unit of Rovigo in the Veneto region, covering a period of 10 years, starting from 2001 up to 2010. The Map Service provided by the Environmental Research System Institute (ESRI, Redlands, CA), and ArcMap 10.0 by ESRI\uae were, respectively, the reference data and the GIS software, employed in the geocoding process. Results. The first attempt of geocoding produced a poor quality result, having about 40% of the addresses matched. A procedure of manual standardization was performed in order to enhance the quality of the results, consequently a set of guiding principle were expounded which should be pursued for geocoding health data. High-level geocoding detail will provide a more precise geographic representation of health related events. Conclusions. The main achievement of this study was to outline some of the difficulties encountered during the geocoding of health data and to put forward a set of guidelines, which could be useful to facilitate the process and enhance the quality of the results. Public health informatics represents an emerging specialty that highlights on the application of information science and technology to public health practice and research. Therefore, this study could draw the attention of the National Health Service to the underestimated problem of geocoding accuracy in health related data for environmental risk assessment

Infant with a big head and 'crossed' polysyndactyly

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A child without kneecaps

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New insights on Noonan syndrome's clinical phenotype: a single center retrospective study

Background: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underestimated. The difficulty in identifying Noonan syndrome is also increased by the fact that genetic tests are currently not able to detect an underlying mutation in around 10% of the cases. Methods: This is a retrospective, observational study conducted at the Institute for Maternal and Child "Burlo Garofolo" in Trieste, Italy. We recruited all the patients with clinical and/or genetic diagnosis of NS who were evaluated at the Department of Pediatrics between October 2015 and October 2020. Statistical analyses were performed with IBM SPSS Statistics software. The association between discrete variables has been evaluated through chi-squared test, indicating statistically significant p with Pearson test or Fischer test for variables less than 5. Results: We recruited a total of 35 patients affected by Noonan syndrome. In 24 patients (75%) we identified an underlying genetic substrate: 17 patients had a mutation on PTPN11 (61%), 2 in SOS1, KRAS and SHOC2 (7% each) and only 1 in RAF1 (4%). 25% of the subjects did not receive a genetic confirm. As for the phenotype of the syndrome, our study identified the presence of some clinical features which were previously unrelated or poorly related to NS. For example, renal and central nervous system abnormalities were found at a higher rate compared to the current literature. On the contrary, some features that are considered very suggestive of NS (such as lymphatic abnormalities and the classical facial features) were not frequently found in our population. Conclusions: In our analysis, we focused on the main phenotypic features of NS, identifying various clinical manifestation that were not associated with this genetic condition before. This could be helpful in raising the knowledge of NS's clinical spectrum, facilitating its diagnosis

Integrated Imaging and Spectroscopic Analysis of Painted Fresco Surfaces Using Terahertz Time-Domain Technique

Terahertz time-domain (THz-TD) imaging plays an increasingly significant role in the study of solid-state materials by enabling the simultaneous extraction of spectroscopic composition and surface topography in the far-infrared region (3–300 cm^-1). However, when applied to works of art in reflection configuration, significant challenges arise, including weak signal intensity, multiple signal losses, and surface distortion. This study proposes a practical solution to overcome these limitations and conducts an integrated imaging and spectroscopic analysis on painted fresco surfaces, allowing for the retrieval of surface thicknesses, material distribution, and pigment spectroscopic signals. The study addresses the issue of surface geometrical distortion, which hampers the accurate determination of the THz phase signal. By tackling this challenge, this work successfully determines the absorption coefficient for each point on the surface and retrieves spectroscopic signatures. Additionally, the temporal deconvolution technique is employed to separate different layers of the sample and differentiate between outer and inner surface topography. The objective of this study is to demonstrate the advantages and limitations of THz-TD imaging in determining surface thicknesses, material distribution, and pigment spectroscopic signals. The results obtained highlight the potential of THz-TD imaging in investigating painted works of art, offering new possibilities for routine analysis in the field of cultural heritage preservation

Cerebellar mutism syndrome: from pathophysiology to rehabilitation

Cerebellar mutism syndrome (CMS) is a common complication following surgical resection of childhood tumors arising in the posterior fossa. Alteration of linguistic production, up to muteness and emotional lability, generally reported at least 24 h after the intervention, is the hallmark of post-operative CMS. Other associated traits include hypotonia and other cerebellar motor signs, cerebellar cognitive-affective syndrome, motor deficits from the involvement of the long pathways, and cranial neuropathies. Recovery usually takes 6 months, but most children are burdened with long-term residual deficits. The pathogenic mechanism is likely due to the damage occurring to the proximal efferent cerebellar pathway, including the dentate nucleus, the superior cerebellar peduncle, and its decussation in the mesencephalic tegmentum. Proven risk factors include brain stem invasion, diagnosis of medulloblastoma, midline localization, tumor size, invasion of the fourth ventricle, invasion of the superior cerebellar peduncle, left-handedness, and incision of the vermis. Currently, rehabilitation is the cornerstone of the treatment of patients with cerebellar mutism syndrome, and it must consider the three main impaired domains, namely speech, cognition/behavior, and movement

NOTE GEOLOGICHE E STRATIGRAFICHE SULL'AREA DI PALMARIGGI (LECCE, PUGLIA)

The geological mapping and the biostratigraphic study of Neogene sediments outcropping near Palmariggi, a small area between Otranto and Maglie (Puglia), have been carried out. Above the dolomitic limestone units of the Cretaceous-Oligocene platform three sedimentary cycles have been recognized, one of Miocene and two of Pliocene age. The first cycle consists of two units: the Pietra leccese and the overlying Calcareniti di Andrano; the second cycle is represented by the Lèuca Formation and the last cycle by the Uggiano la Chiesa Formation. The pre-Neogene units are affected by a folding episode with major structures trending NNW- SSE. A subsequent tectonic event characterized by folds with axial directions interferring with the previous one has been detected in the pre-Neogene units. The latter deformation affects also the Miocene successions. Both the previous deformative episodes control the outcrop distribution of the Neogene sediments, preserved in the low structural sites such as synclinal cores. In the Palmariggi area an extensional tectonics of pre-Pliocene age follows the folding related to the compressive episodes. The normal faults linked to this late extension, show a NNW-SSE trend

Post-Irradiation Hyperamylasemia Is a Prognostic Marker for Allogeneic Hematopoietic Stem Cell Transplantation Outcomes in Pediatric Population: A Retrospective Single-Centre Cohort Analysis

Background: Total body irradiation (TBI) is a mandatory step for patients with acute lymphoblastic leukemia (ALL), undergoing allogeneic hematopoietic stem cell transplantation (HSCT). In the past, amylases have been reported to be a possible sign of TBI toxicity. We investigated the relationship between total amylases (TA) and transplant-related outcomes in pediatric recipients. Methods: We retrospectively analyzed the medical records of all the patients who underwent allogeneic HSCT between January 2000 and November 2019. The inclusion criteria were the following: recipient's age between 2 and 18, diagnosis of ALL, no previous transplantation, and use of TBI-based conditioning. The serum total amylase and pancreatic amylase were evaluated before, during, and after transplantation. Cytokines and chemokines assays were retrospectively performed. Results: 78 patients fulfilled the inclusion criteria. Fifty-seven patients were treated with fractionated TBI, and 21 with a single-dose regimen. The overall survival (OS) was 62.8%. Elevated values of TA were detected in 71 patients (91%). The TA were excellent in predicting the OS (AUC = 0.773; 95% CI = 0.66-0.86; p < 0.001). TA values below 374 U/L were correlated with a higher OS. The highest mean TA values (673 U/L) were associated with a high disease-progression mortality rate. The TA showed a high predictive performance for disease progression-related death (AUC = 0.865; 95% CI = 0.77-0.93; p < 0.0001). Elevated TA values were also connected with significantly higher levels of proinflammatory cytokines, such as TNF-alpha, IL-6, and RANTES (p < 0.001). Conclusions: this study shows that TA is a valuable predictor of post-transplant OS and increased risk of leukemia relapse