70 research outputs found

    Clinical and brain imaging findings in a child with vitamin B12 deficiency

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    Vitamin B12 (Vit-B12) deficiency is a rare and treatable cause of failure to thrive and delayed development in infants who are exclusively breastfed. Apart from genetic causes, it can be related to a malabsorption syndrome or when the mother follows a strict vegetarian or vegan diet, causing a low hepatic storage of Vit-B12 in the infant at birth. As the neurological symptoms are nonspecific, a brain magnetic resonance imaging (MRI) exam is usually performed to rule out primary causes of neurodevelopmental delay. Findings related to brain atrophy are usually observed. A favorable response is achieved with Vit-B12 therapy, and neurological symptoms dramatically improve within a few days after the treatment. We present the case of an infant with severe Vit-B12 deficiency, exclusively breastfed by his young vegan mother, and whose clinical symptoms together with MRI findings improved after treatment. Brain atrophy recovery after Vit-B12 therapy has been seldom documented

    Conventional MRI-Derived Biomarkers of Adult-Type Diffuse Glioma Molecular Subtypes: A Comprehensive Review

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    The introduction of molecular criteria into the classification of diffuse gliomas has added interesting practical implications to glioma management. This has created a new clinical need for correlating imaging characteristics with glioma genotypes, also known as radiogenomics or imaging genomics. Although many studies have primarily focused on the use of advanced magnetic resonance imaging (MRI) techniques for radiogenomics purposes, conventional MRI sequences remain the reference point in the study and characterization of brain tumors. A summary of the conventional imaging features of glioma molecular subtypes should be useful as a tool for daily diagnostic brain tumor management. Hence, this article aims to summarize the conventional MRI features of glioma molecular subtypes in light of the recent literature

    Malignancy course of pituitary adenoma in MEN1 syndrome: Clinical-Neuroradiological signs

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    Pituitary carcinomas (PCa) are extremely rare, indistinguishable from pituitary adenomas on histopathological grounds and have a poor prognosis. Most PCa start as PRL or ACTH secreting tumors in males, with relapsing invasive behaviour, refractoriness to medical and radiotherapy and increasing hormonal levels. The presence of distant metastases is still required for the diagnosis of PCa. The association with genetic endocrine diseases must be taken into account, since it adds further risk of evolution towards malignancy. Intradural spinal metastases have also been reported, so a complete craniospinal MR evaluation is recommended, when clinically indicated. We report a case of PCa, associated with MEN1 syndrome, with evidence of meningeal spread to the tentorium cerebelli, clival dura and spinal drop metastases mimicking spinal nerves schwannomas

    Brain mapping-aided supratotal resection (Sptr) of brain tumors: The role of brain connectivity

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    Brain gliomas require a deep knowledge of their effects on brain connectivity. Understanding the complex relationship between tumor and functional brain is the preliminary and fundamental step for the subsequent surgery. The extent of resection (EOR) is an independent variable of surgical effectiveness and it correlates with the overall survival. Until now, great efforts have been made to achieve gross total resection (GTR) as the standard of care of brain tumor patients. However, high and low-grade gliomas have an infiltrative behavior and peritumoral white matter is often infiltrated by tumoral cells. According to these evidences, many efforts have been made to push the boundary of the resection beyond the contrast-enhanced lesion core on T1w MRI, in the so called supratotal resection (SpTR). SpTR is aimed to maximize the extent of resection and thus the overall survival. SpTR of primary brain tumors is a feasible technique and its safety is improved by intraoperative neuromonitoring and advanced neuroimaging. Only transient cognitive impairments have been reported in SpTR patients compared to GTR patients. Moreover, SpTR is related to a longer overall and progression-free survival along with preserving neuro-cognitive functions and quality of life

    Tyrosol may prevent obesity by inhibiting adipogenesis in 3T3-L1 preadipocytes

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    Tyrosol (TR), a major polyphenol found in extra virgin olive oil (EVOO), exerts several antioxidant effects. However, only scarce evidences are present regarding its activity on adipocytes and obesity. This study evaluated the role of TR in adipogenesis. Murine 3T3-L1 preadipocytes were incubated with TR (300 and 500 ΌM), and TR administration inhibited adipogenesis by downregulation of several adipogenic factors (leptin and aP2) and transcription factors (C/EBPα, PPARÎł, SREBP1c, and Glut4) and by modulation of the histone deacetylase sirtuin 1. After complete differentiation, adipocytes treated with 300 and 500 ΌM TR showed a reduction of 20% and 30% in lipid droplets, respectively. Intracellular triglycerides were significantly reduced after TR treatment (p < 0.05). Mature adipocytes treated with TR at 300 and 500 ΌM showed a marked decrease in the inflammatory state and oxidative stress as shown by the modulation of specific biomarkers (TNF, IL6, ROS, and SOD2). TR treatment also acted on the early stage of differentiation by reducing cell proliferation (~40%) and inducing cell cycle arrest during Mitotic Expansion Clonal (first 48 h of differentiation), as shown by the increase in both S1 phase and p21 protein expression. We also showed that TR induced lipolysis by activating the AMPK-ATGL-HSL pathway. In conclusion, we provided evidence that TR reduces 3T3-L1 differentiation through downregulation of adipogenic proteins, inflammation, and oxidative stress. Moreover, TR may trigger adipose tissue browning throughout the induction of the AMPK-ATGL-UCP1 pathway and, subsequently, may have promise as a potential therapeutic agent for the treatment and prevention of obesity

    Am I getting an accurate picture: a tool to assess clinical handover in remote settings?

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    BACKGROUND: Good clinical handover is critical to safe medical care. Little research has investigated handover in rural settings. In a remote setting where nurses and medical students give telephone handover to an aeromedical retrieval service, we developed a tool by which the receiving clinician might assess the handover; and investigated factors impacting on the reliability and validity of that assessment. METHODS: Researchers consulted with clinicians to develop an assessment tool, based on the ISBAR handover framework, combining validity evidence and the existing literature. The tool was applied 'live' by receiving clinicians and from recorded handovers by academic assessors. The tool's performance was analysed using generalisability theory. Receiving clinicians and assessors provided feedback. RESULTS: Reliability for assessing a call was good (G = 0.73 with 4 assessments). The scale had a single factor structure with good internal consistency (Cronbach's alpha = 0.8). The group mean for the global score for nurses and students was 2.30 (SD 0.85) out of a maximum 3.0, with no difference between these sub-groups. CONCLUSIONS: We have developed and evaluated a tool to assess high-stakes handover in a remote setting. It showed good reliability and was easy for working clinicians to use. Further investigation and use is warranted beyond this setting

    Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2)

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    The possibility that four loci (REN, THO, PARP, SOD2) are associated with longevity was explored by comparing the genotypic pools of subjects older than 100 years with those of younger subjects matched for sex and geographic area (northern and southern Italy). The markers (all located within the respective gene) were HUMREN4; HUMTHO1; HUMPARP (gt)845nt; SOD2(C/T)401nt. In order to reduce the number of genotypes, multiallelic polymorphisms were recoded as diallelic according to allele size and frequency patterns (small: S, and large: L, alleles). A significant loss of LL homozygous genotypes was found at the THO locus in male but not in female centenarians with respect to matched controls. On the other hand no significant difference was found between case/control genotypic frequencies at REN, PARP, SOD2 loci. The latter loci therefore do not affect inter-individual variability in life expectancy (at least in terms of qualitative variants associated with the tested markers). However, the data is consistent with an association between the THO locus and longevity

    Scalar mixing in homogeneous isotropic turbulence: A numerical study

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    The understanding of the mechanics of turbulent dispersion is of primary importance in estimating the effects of mixing processes involved in a variety of events playing a significant role in our daily life. This motivates research on the characterization of statistics and the complex temporal evolution of passive scalars in turbulent flows. A key aspect of these studies is the modeling of the probability density function (PDF) of the passive scalar concentration and the identification of its link with the mixing properties. In order to investigate the dynamics of passive scalars as observed in nature and in laboratory experiments, we perform here direct numerical simulations of a passive tracer injected in the stationary phase of homogeneous isotropic turbulence flows in a setup mimicking the evolution of a fluid volume in the reference frame of the mean flow. In particular, we show how the gamma distribution proves to be a suitable model for the PDF of the passive scalar concentration and its temporal evolution in a turbulent flow throughout the different phases of the mixing process. Then, assuming a gamma distribution, we develop a simple mixing model by which we can estimate a mixing timescale, which regulates the decay rate of the intensity of the concentration fluctuations

    Utilizzo delle mappe ADC nella valutazione non invasiva dello stato di mutazione dell\u2019IDH in gliomi di alto grado.

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    Testo dell'abstract Scopo La nuova classificazione dei tumori cerebrali (2016 WHO) distingue i gliomi diffusi in base alle caratteristiche molecolari dell\u2019isocitrato deidrogenasi (IDH) in IDH mutati, IDH wild type e non altrimenti specificati. La valutazione dello stato di mutazione dell\u2019IDH ha implicazioni diagnostiche, prognostiche e terapeutiche. Lo scopo di questo studio \ue8 valutare se l\u2019analisi quantitativa delle mappe ADC possa predire in modo non invasivo lo stato di mutazione dell\u2019IDH. Materiale e metodi Sono state esaminate retrospettivamente RM e mappe ADC di 28 pazienti (11 F, 17 M) con diagnosi istologica di glioma diffuso di alto grado (G-III, G-IV WHO) e valutazione dello stato di mutazione dell\u2019IDH1 (18 MUT, 10 WT). Gli esami sono stati condotti su apparecchio RM 1,5 T. Le mappe ADC sono state elaborate e co-registrate con le immagini T2w e T1 post mdc in modo da posizionare le ROI sulle componenti solide della lesione, evitando le componenti emorragica, cistica o necrotica. Sono state posizionate 4-5 ROI per ogni tumore e calcolati i valori medi di ADC (ADCmean) scegliendo tra i valori pi\uf9 bassi per ogni Paziente. La comparazione dei valori ADCmean tra IDH-MUT e IDH-WT \ue8 stata condotta utilizzando il \u201ct\u201d test di Student, considerando statisticamente significativo un valore di p<0. Risultati I valori ADCmean nei pazienti IDH-WT (0,86x10-3mm2 /s)(+/- 0,06) sono risultati pi\uf9 bassi rispetto a quelli dei pazienti IDH-MUT (1,24x10-3mm2 /s)(+/- 0,19) con differenza tra i due gruppi significativa per p<0,01. Il valore minimo di ADC =1,01 x10-3mm2 /s pu\uf2 essere considerato come\u201ccut-off \u201cper differenziare lo stato di mutazione. Conclusioni L\u2019aggiunta di dati quantitativi come la valutazione dell\u2019ADC all\u2019imaging RM convenzionale potrebbe essere utilizzata di routine come marker non-invasivo di pattern molecolari specifici
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