102,360 research outputs found
CARATTERIZZAZIONE FUNZIONALE DEI MUTANTI DEL RECETTORE PER LA TIREOTROPINA (TSH)
No full textContext: Heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH
resistance, characterized by isolated nonautoimmune hyperthyrotropinemia (NAHT). The prevalence
and management of this condition is controversial.
Objective: Our objective was to investigate the prevalence and clinical impact of TSHR alterations
in a large series of pediatric patients with NAHT and to dissect their mechanism of action.
Design and Setting: For this prospective multicenter study, clinical data and samples were collected
in the clinical units and conveyed to a centralized laboratory for analysis.
Patients: Subjects included 284 unrelated patients with NAHT aged 18 yr. Exclusion criteria
included thyroid dysgenesis or major associated congenital defects.
Main Outcome Measures: Parameters of thyroid function, TSHR gene analysis, and TSHR functional
assays were evaluated.
Results: The frequency of heterozygous nonpolymorphicTSHRvariationswas11.8%.Weidentified
seven previously unknown variations: a frameshift (p.Q33PfsX46), two intronic (g.IVS4+ 2A<G, IVS4-1T<G),
and nine novel missense (p.P162L,p. P160S, p.Y466C, p.I583T, p.I607T,p.L57P, p.P668L, p.S745C and p.R609Q) variations. The missense
variations variably affected TSHR membrane expression and Gs and/or Gq/11 signaling. Several
variations cosegregated with NAHT in the affected families. Parameters of thyroid function were
similar between affected and unaffected family members.
Conclusions: Nonpolymorphic alterations in the TSHR gene are commonly associated with isolated
NAHT in young patients, thus configuring partial TSH resistance as the most frequent inheritable
cause of isolated NAHT. The identification of TSHR defects may thus be helpful for a tailored
management of subclinical hypothyroidism. We provide further evidence that besides the wellknown
defects inGs signaling, TSHR genetic alternations found in NAHT may frequently impair the
Gq/11 pathway
GC-MS analysis and biological activity of hydroalcholic extracts and essential oils of Rhus typhina L. wood (anacardiaceae) in comparison with leaves and fruits
No full textHydroalcoholic extracts (HE) and essential oils (EO) of branches, leaves and fruits of Rhus typhina L., were characterized by GC-MS. HE (yealds: branches 68.30 mg/g, leaves 35.82 mg/g and fruits 257.76 mg/g), showed different compositions dominated by gallic acid (33.46%) in branches, its precursor 1-cyclohexane-3,4,5-hydroxy-carboxylic acid (20.55%) in leaves and malic acid (89.15%) in fruits. EO yields were 210 μg/g for branches (main component δ-cadinene, 22.00%), followed by fruits with 132 μg/g (β-pinene 32.2%) and by leaves with 54 μg/g and phenylacetaldehyde as major component (40.13%). Total phenolic content (TPC) was highest in branches HE (5.87 μg GAE/mL) and in EO leaves (17.71 μg GAE/mL). The highest value of radical scavenging activity (DPPH test) was detected in leaves HE and EO. The branches EO antimicrobial activity was strong against C. albicans and negligible against E. coli. Leaves and fruits EO showed strong activity against C. albicans and intermediate activity against Escherichia coli
La legge Gelmini due anni dopo
No full textL'articolo delinea un primo bilancio dei primi due anni applicazione della legge Gelmini. In primo piano gli effetti di un processo di riforma ancora incompiuto, avviato a costo zero e privo di reali prospettive occupazionali. Si potrebbe condensare in questi termini la nuova fase di rinnovamento che vive l’Università italiana dopo il varo della legge 240/2010, recepita dagli atenei sulla scorta dei numerosi decreti attuativi che ne scandiscono l’applicazione. L’Università italiana rimane un cantiere aperto, afflitto da un’ipertrofia normativa che non consente la decantazione degli effetti prodotti dalle riforme promosse in maniera incessante nel corso delle ultime quattro Legislature. E che non facilita il processo di interiorizzazione delle nuove regole da parte degli studenti, stakeholder di riferimento di un sistema che continua a scontare una emergenza finanziaria che non agevola la vita universitaria dei giovani in termini di qualità ed efficienza complessive dei servizi
A narrative review about difficult laparoscopic cholecystectomy: technical tips
No full textBackground: Laparoscopic cholecystectomy (LC) is the most practiced procedure in general surgery worldwide. It is nowadays the optimum surgical procedure for symptomatic gallbladder lithiasis. Nevertheless, it should not be underestimated since vascular and biliary duct injuries are not uncommon, with devastating consequences. This study aimed to advise the best surgical technical approach for LC according to the intraoperative situation to avoid accidental anatomical structures injuries. Methods: A traditional narrative literature search for articles published up to December 2021 was performed using the most common search engines (PubMed, Web of Science, Google Scholar). The search strategy utilized in all databases included the combination of the keywords: "laparoscopic cholecystectomy", "difficult cholecystectomy", "acute cholecystitis", "prevention bile duct injuries", "safe cholecystectomy". No restrictions were applied to the language of the publication if an English version of the article was available. Key Content and Findings: Difficult laparoscopic cholecystectomy (DLC) is a distressing condition. Its definition is not well established and may vary according to the surgeon's experience. Several techniques have been proposed to minimize the bile duct or hepatic injury risk during the challenging cholecystectomy. Conclusions: Although LC is nowadays the optimum surgical procedure for symptomatic gallbladder lithiasis, it should not be underestimated since vascular and biliary duct injuries are very morbid, significantly increase care costs, and often lead to litigations
Scalar direct detection: In-medium effects
No full textA simple extension of the Standard Model consists of a scalar field that can potentially constitute the dark matter (DM). Significant attention has been devoted to probing light O(≲10eV) scalar DM, with a multitude of experimental proposals based on condensed matter systems as well as novel materials. However, the previously overlooked effective in-medium mixing of light scalars with longitudinal plasmons can strongly modify the original sensitivity calculations of the direct detection experiments. We implement the in-medium effects for scalar DM detection, using thermal field theory techniques, and show that the reach of a large class of direct DM detection experiments searching for light scalars is significantly reduced. This development identifies setups based on Dirac materials and tunable plasma haloscopes as particularly promising for scalar DM detection. Further, we also show that scalars with significant boost with respect to halo DM, such as those produced in the Sun, decay of other particles or by cosmic rays, will not suffer from in-medium suppression. Hence, multi-tonne direct DM detection experiments, such as those based on xenon or argon, also constitute a favorable target. We also discuss scalar mediated DM scattering
"Il Calcare a Lucina pomum”della Successione Epiligure dell’Appennino modenese: stratigrafia, sedimentologia e dati geochimici.
No full textIn this paper "Lucina limestones", outcropping in the Modena area, where for the first time were found, are investigated from a stratigraphical, sedimentological and geochemical viewpoint. The data collected allow these deposits to be ascribed to the Termina Formation of the Epiligurian Sequence and to be dated at the top of the Upper Serravallian. Different outcrop types are recognized: 1) marly-calcareous lenses with lucinids, 2) marly-calcareous and calcarenitic hectometric levels with lucinids, 3) marly-calcareous breccias with lucinids. The first two outcrop types clearly show show evidence of a primary deposition and gradually pass to surrounding pelitic marls, whereas the third one is resedimented. The sedimentological and stratigraphical results obtained from this research permit to differentiate the numerous "Lucina deposits" reported in literature. Geochemical and taphonomic analyses confirm the stratigraphical and sedimentological data and lead to interpret the lucinid assemblages of the Modena territory deposits as chemosynthetic communities related to hydrocarbon sources. A methanogenic hypothesis, different from those commonly reported in literature, is here proposed which considers lucinid chemoherm as derived from local bacterical oxidation of marly-pelitic sediment
Intestinal perforation due to typhoid fever in Karamoja (Uganda).
No full textINTRODUCTION:
This is a retrospective analysis of patients operated for typhoid perforation, aiming to analyze epidemiology, clinical-diagnostic and therapeutic aspects, mortality and prognosis.
METHODS:
47 patients were operated at Matany Hospital from 2010 to 2016. We examined clinical files to collect data. Microbiological and isthological examinations were unavailable, so etiology was deducted operatively.
RESULTS:
Median age: 17.85 years, 61.7% of patients were male, 74.47% perforated within two weeks from the onset of symptoms. Every radiological investigation (X-Rays and Ultrasound Scans) resulted positive. 40 patients underwent primary repair, 4 underwent resection. 72.34% experienced postoperative complications, SSI (Surgical Site Infection) occurred in 40.42%. Mortality rate reached 5.56% in patients without organ failure (vs 31.03%) and 11.76% (vs 20.51%) in patients operated within 24 hours from perforation. An MPI (Mannheim Peritonitis Index) score >30 was related with a mortality rate of 36% (vs 3.45%).
CONCLUSIONS:
Peak of incidence occurs at the end of rainy season. Majority of patients are young men. Main symptoms are fever and signs of intestinal obstruction, with a shorter period before perforation. Primary repair is the technique of choice for single perforations, resection for multiple ones, right colectomy in case of cecal involvement, ileostomy for important peritoneal contamination. SSI are the most frequent complications, enteric fistulas the most severe ones. Mortality rate is around 21.28%. Important prognostic factors are time between perforation and operation and the presence of organ failure. An MPI score >30 is related with a poorer prognosis
Enforcing Cooperative Storytelling: First Studies
No full textIn this paper, we describe the first prototype of a system called StoryTable, aimed at supporting a group of children in the activity of storytelling. The system is based on a special multi-user touchable device (the MERL DiamondTouch) and it was designed with the purpose of enforcing collaboration between children. The paper discusses how the main design choices were influenced by the paradigm of cooperative learning and presents two observational studies to assess the effects of the different design choices on the storytelling activit
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