PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

BACKGROUND: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized. CASE PRESENTATION: We hereby report a heterozygous de novo mutation in the PTPN11 gene (c.1403C > T) manifesting with a clinical picture of LS during childhood, and later development of neuropathic pain with hypertrophic plexi, which are typically observed in NF1 but have not been reported in LS. CONCLUSION: LS caused by PTPN11 mutations may be associated with hypertrophic roots and plexi. Consequently, clinicians should be aware of the possible development of neuropathic pain and consider specific diagnostic work-up and management

Status epilepticus of inflammatory etiology: A cohort study.

OBJECTIVE: Inflammation-related epilepsy is increasingly recognized; however, studies on status epilepticus (SE) are very infrequent. We therefore aimed to determine the frequency of inflammatory etiologies in adult SE, and to assess related demographic features and outcomes. METHODS: This was a retrospective analysis of a prospective registry of adult patients with SE treated in our center, from January 2008 to June 2014, excluding postanoxic causes. We classified SE episodes into 3 etiologic categories: infectious, autoimmune, and noninflammatory. Demographic and clinical variables were analyzed regarding their relationship to etiologies and functional outcome. RESULTS: Among the 570 SE consecutive episodes, 33 (6%) were inflammatory (2.5% autoimmune; 3.3% infectious), without any change in frequency over the study period. Inflammatory SE episodes involved younger patients (mean age 53 vs 61 years, p = 0.015) and were more often refractory to initial antiepileptic treatment (58% vs 38%, odds ratio = 2.19, 95% confidence interval = 1.07-4.47, p = 0.041), despite similar clinical outcome. Subgroup analysis showed that, compared with infectious SE episodes, autoimmune SE involved younger adults (mean age 44 vs 60 years, p = 0.017) and was associated with lower morbidity (return to baseline conditions in 71% vs 32%, odds ratio = 5.41, 95% confidence interval = 1.19-24.52, p = 0.043) without any difference in mortality. CONCLUSIONS: Despite increasing awareness, inflammatory SE etiologies were relatively rare; their occurrence in younger individuals and higher refractoriness to treatment did not have any effect on outcome. Autoimmune SE episodes also occurred in younger patients, but tended to have better outcomes in survivors than infectious SE

Gli interventi educativi per i pazienti con scompenso cardiaco: una sintesi della letteratura

Patient education is recognized as a central component of heart failure care and reduces hospital readmissions. Nurses have an important role in providing patient education and modifying self-care behaviors. The aim of this article is to examine characteristics of educational interventions for heart failure patients, their measured outcomes and the role of nurses in providing education. We conducted a literature review of the last 10 years and considered 30 articles. Multisession motivational interventions, repeated over time and with different follow-up interventions seem to produce the best results. However, some aspects remain controversial

Immunohistochemical expression of apoptotic factors, cytokeratins, and metalloproteinase-9 in periapical and epithelialized gingival lesions

The aim of the study was to assess the involvement of apoptotic factors, cytokeratins and metalloproteinase- 9 in the histogenesis of both Epithelialized Gingival Lesions (EGL) and Periapical Lesions (PAL). 55 consecutive patients, 30 with PAL and 25 with EGL, were selected for the study after clinical and radiological examinations. The PAL patients had severe periapical lesions and tooth decay with exposure of the pulp chamber. All PAL and EGL biopsies were surgically extracted, fixed in 10% buffered formalin, and processed for routine light microscopy. Ten biopsies of each category were processed for immunohistochemistry (IHC). Serial paraffin sections were stained by IHC with appropriate antibodies to detect cytokeratins (CKs) 1, 5, 8, 10 and 14, caspase-3 and -9, metalloproteinase-9, and for PCNA and TUNEL assays. Both PAL and EGL showed a high expression of the cytokeratin 1, 5 and 8 with higher expression in EGL. Moreover, CK10 was markedly less intense expressed in EGL compared to PAL, while CK14 was almost three times stronger expressed in EGL. The expression of caspase-3 and -9 was stronger in PAL compared to EGL, however, the difference was only significant for caspase-9. In PAL apoptosis detected by TUNNEL method and the expression of MMP-9 were higher than in EGL, whereas PCNA was significantly more expressed in EGL. The results clearly suggest that both lesions have exclusively an epithelial origin and that epithelial proliferation was correlated with the degree of apoptosis in both entities. PAL and EGL presented mostly similar cytokeratin expression except for CK10 and CK14, though with marked differences in the distribution and intensity of IHC reactions. Finally, the degradation of extracellular matrix in both lesions could be partially attributed to the strong presence of MMP-9. (Folia Histochemica et Cytobiologica 2012, Vol. 50, No. 4, 497\u2013503

Wider implications of video-assisted thoracic surgery versus open approach for lung metastasectomy

Lung metastasectomy is considered a safe and potentially curative procedure despite there is not a strong evidence that metastasectomy prolongs long-term survival in patients with lung metastases. Moreover, the debate is open regarding the best approach for lung metastasectomy, video-assisted thoracic surgery versus open approach. A systematic review of literature to clarify what is the best approach to prolong survival in patients with lung metastases was performed. Our study confirms that overall survival is equivalent for video-assisted thoracic surgery and thoracotomy, therefore the ‘gold standard’ surgical treatment for lung metastases remains a point of debate. The choice of the surgical approach still depends more on the single center or surgeon practice than on strong scientific evidence. A prospective randomized trial could clarify the question

Genetic and environmental influences upon the CBCL/6-18 DSM-oriented scales: similarities and differences across three different computational approaches and two age ranges

Inasmuch as the newly established DSM-oriented CBCL/6-18 scales are to be increasingly employed to assess clinical/ high-risk populations, it becomes important to explore their aetiology both within the normal- and the extreme range of variation in general population samples and to compare the results obtained in different age groups. We investigated by the Quantitative Maximum Likelihood, the De Fries-Fulker, and the Ordinal Maximum Likelihood methods the genetic and environmental influences upon the five DSM-oriented CBCL/6-18 scales in 796 twins aged 8–17 years belonging to the general population-based Italian Twin Registry. When children were analysed together regardless of age, most best-fitting solutions yielded genetic and non-shared environmental factors as the sole influences for DSM-oriented CBCL/6-18 behaviours, both for the normal and the extreme variations. When analyses were conducted separately for two age groups, shared environmental influences emerged consistently for Affective and Anxiety Problems in children aged 8–11. Oppositional-Defiant, Attention Deficit/ Hyperactivity, and Conduct Problems appeared—with few exceptions—influenced only by genetic and non-shared environmental factors in both age groups, according to all three computational approaches. The De Fries-Fulker method appeared to be more sensitive in detecting shared environmental effects. Analysing the same set of data with different analytic approaches leads to better-balanced views on the aetiology of psychopathological behaviours in the developmental years

Pharmacological therapy of non-alcoholic fatty liver disease: What drugs are available now and future perspectives

The non-alcoholic fatty liver disease (NAFLD) is rapidly becoming the most common cause of chronic liver disease as well as the first cause of liver transplantation. NAFLD is commonly associated with metabolic syndrome (MetS), and this is the most important reason why it is extremely difficult to treat this disease bearing in mind the enormous amount of interrelationships between the liver and other systems in maintaining the metabolic health. The treatment of NAFLD is a key point to prevent NASH progression to advanced fibrosis, to prevent cirrhosis and to prevent the development of its hepatic complications (such as liver decompensation and HCC) and even extrahepatic one. A part of the well-known healthy effect of diet and physical exercise in this setting it is important to design the correct pharmaceutical strategy in order to antagonize the progression of the disease. In this regard, the current review has the scope to give a panoramic view on the possible pharmacological treatment strategy in NAFLD patients

Dissipative Dynamic Libraries (DDLs) and Dissipative Dynamic Combinatorial Chemistry (DDCC)

This Concept is focused on the key features of dissipative dynamic combinatorial chemistry (DDCC). DDCC deals with transient libraries of compounds, maintained out-of-equilibrium by the consumption of a fuel, whose composition changes upon the selection pressure of kinetic and/or thermodynamic processes. Concepts and definitions of kinetic and thermodynamic dissipative dynamic libraries ("KDDL" and "TDDL"), are introduced and illustrated by a number of actual cases, thus showing the consistency of the present approach. Such concepts and definitions can help establish a common language for this emerging field, which, in our view, has the potential to become highly relevant to supramolecular chemistry

Seismo-stratigraphic and morpho-bathymetric analysis revealing recent fluid-rising phenomena on the Adventure Plateau (northwestern Sicily Channel)

The northwestern region of the Sicily Channel hosts a great number of morphological highs, the widest of which is the Adventure Plateau that is part of the Sicilian Maghrebian Fold and Thrust Belt system, formed since the Neogene. The Adventure Plateau was shaped in the Early Pliocene by an extensional phase that produced high-angle normal faults mostly WNW-ESE to N-S oriented. Through these faults, magmatic fluids ascended and produced widespread volcanic manifestations often associated to fluid flow processes. The interpretation of multibeam echosounder, seismic reflection (sparker, airgun) and well-log data allow us to identify several features related to the presence of fluids in the study area. The morpho-structural analysis showed a NW–SE oriented fault system and a string of pockmarks that follow the same trend. A detailed well-log analysis confirmed the presence of oil traces, at a depth of ~ 250 m, and gas (i.e., CO2) at a depth of ~ 450 m. The seismo-stratigraphic analysis highlighted seismic signals located below the pockmarks, (e.g. seismic chimneys, bright spots) which suggest the presence of fluids that would rise to a few meters’ depth. Based on the observations, two sources and two corresponding rising mechanisms have been identified. Morphometric analysis of pockmarks has been performed to delineate their possible interaction with the bottom currents. A fluids pathway model has been reconstructed, revealing the source of fluids emissions at depth in the Adventure Plateau, and providing new insights into the identification of fluid leakage pathways