57 research outputs found
L’importanza delle fonti orali e della letteratura grigia nella ricerca storica sul design
No full textIn the 2017 issue of the magazine “Stories of Design Through and From Sources”, a contribution was published dedicated to a type of document often left on the sidelines in historical research, if not even excluded from what is considered “official literature”. Claiming the value of oral history, grey and ephemeral literature, the author, Ida Kamilla Lie, also hoped for a theoretical and practical expansion of research for design by integrating the usual archival documents with these other kinds of sources..
Percorso di ricerca storica e lavoro sulle fonti primarie nel caso “Gino Sarfatti e Arteluce”
No full textL’articolo ripercorre le fasi e le modalità di ricerca relative al caso dell’imprenditore e designer Gino Sarfatti e della sua azienda produttrice di apparecchi di illuminazione Arteluce. La vicenda – svoltasi a Milano tra la fine degli anni trenta e la prima metà degli anni settanta – è fatalmente rimasta in ombra per vent’anni, tra il 1974, quando volge al termine, e il 1994, anno in cui l’autrice ha avviato una prima indagine approfondita; questa ricerca, inizialmente oggetto di una tesi di laurea, ha portato in seguito alla pubblicazione di un ampio articolo e, nel 2012, della prima esaustiva monografia dedicata a Sarfatti. A distanza di molti anni, il caso Sarfatti-Arteluce offre all’autrice l’occasione per riflettere da un lato sulle fonti di indagine che sono state al centro della ricerca, in particolare quella del racconto orale e del collezionismo, dall’altro sull’uso del processo di digitalizzazione e sulla loro valenza nell’operatività della ricerca storica.This article is a critical account of the process and modes of a research study conducted by the author and dedicated to the entrepreneur and designer Gino Sarfatti and to his lighting manufacturing company, Arteluce. Despite its relevance at the moment of its development, this story – which took place in Milan between the late 1930s and the first half of the 1970s – has mostly been overlooked since the company closed in 1974. Twenty years later, in 1994, the author had the opportunity to begin exploring Arteluce and Sarfatti’s work in greater depth: begun within the context of her MA thesis, this exploration developed into the publication of a long article and finally, in 2012, of a monograph. At a distance of several years, the research into the case of Sarfatti-Arteluce gives the author an opportunity to reflect on the use of sources. On the one hand, the article discusses several issues concerning the use of oral history and information pertaining to collecting practices; on the other, it considers the use of the digitization process and its relevance to the work of the design historian
S561f cdkal1 variant, identified by whole exome sequencing of congenital hyperinsulinism patients, affects insulin content and release in ins1-e cells
No full textHyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene
No full textInheritable isolated central hypothyroidism (ICH) due to mutations of TSH beta gene has been reported in few patients. For this reason the diagnostic criteria are vague. The disorder is usually characterized by undetectable TSH levels, although low/normal serum TSH, depending on TSH measurement methods, has been documented in some patients. Here we report an Egyptian girl with ICH due to a novel nonsense mutation of the TSH beta gene (Q49X). She was referred at 75 days of age for severe clinical signs of hypothyroidism, whose central origin was documented by normal serum TSH, low free T(4) and free T(3) levels, impaired TSH response to TRH, absence of (99)Tc thyroidal uptake, and antithyroid autoantibodies. Ultrasound revealed a hypoplastic thyroid, whereas magnetic resonance imaging showed a hyperplastic pituitary. All other pituitary hormones, including PRL, were normally secreted. A diagnosis of idiopathic ICH was made, and substitutive L-T(4) treatment was started at 81 days of age. At the age of 7 yr the patient had normal thyroid hormone levels, but was severely mentally retarded. Interestingly, the sella computed tomography scan had completely normalized. At 8 yr of age the patient was reinvestigated after 6-week L-T(4) withdrawal. TSH values were highly variable depending on the measurement method used, whereas extremely high levels of circulating free glycoprotein alpha-subunit were recorded. Despite the fact that mutant TSH beta lacks 60% of the C-terminal amino acid sequence, it forms with the alpha-subunit a heterodimer with preserved immunoreactivity in some TSH measurement methods, but the mutant heterodimer is completely devoid of bioactivity. In conclusion, high circulating free glycoprotein alpha-subunit levels, variable TSH levels, and, possibly, hyperplastic pituitary gland are the hallmark of ICH due to mutations of the TSH beta gene
Polymorphism of Vitamin d receptor gene start codon in patients with calcium kidney stones
No full textBACKGROUND:
A linkage has been detected between vitamin D receptor (VDR) locus and calcium kidney stone disease. In order to assess the eventual role of VDR gene start codon polymorphisms in stone production, we analyzed the genotype-phenotype association in a group of patients with calcium kidney stones.
METHODS:
One hundred and fifty-five patients were studied. VDR genotypes were characterized at the translation start site by restriction fragment length polymorphism analysis, using endonuclease FokI. Phenotypes of calcium-phosphate metabolism were compared in patients with different genotypes: strontium enteral absorption (used as a surrogate marker for calcium absorption), bone mineral density (BMD), calcium and phosphate excretion were measured.
RESULTS:
Genotype distribution was not different in hypercalciuric and normocalciuric stone formers. Enteral strontium absorption, calcium excretion and BMD did not vary with the patient's genotype. Serum concentrations of phosphate (p=0.022) and renal threshold for phosphate excretion (p=0.026) were lower in patients with genotype FF (homozygous for the absence of the FokI site) than in those with genotype ff (homozygous for the presence of the FokI site). The lower phosphatemia was confirmed in FF hypercalciuric patients, but not in normocalciuric ones. Serum concentrations of phosphate and calcitriol in the group of hypercalciuric patients were inversely correlated with the genotype FF.
CONCLUSIONS:
The FokI genotype does not appear to be involved in the causes of idiopathic hypercalciuria and kidney stones. Hypercalciuric patients with FF genotype may be a subgroup with low plasma concentrations of phosphate, predisposed to tubular leakage of phosphate
The role of IL-6 released from pulmonary epithelial cells in diesel UFP-induced endothelial activation
No full textDiesel exhaust particles (DEP) and their ultrafine fraction (UFP) are known to induce cardiovascular effects in exposed subjects. The mechanisms leading to these outcomes are still under investigation, but the activation of respiratory endothelium is likely to be involved. Particles translocation through the air-blood barrier and the release of mediators from the exposed epithelium have been suggested to participate in the process. Here we used a conditioned media in vitro model to investigate the role of epithelial-released mediators in the endothelial cells activation. Diesel UFP were sampled from a Euro 4 vehicle run over a chassis dyno and lung epithelial BEAS-2B cells were exposed for 20 h (dose 5 microg/cm2). The exposure media were collected and used for endothelial HPMEC-ST1.6R cells treatment for 24 h. The processes related to oxidative stress and inflammation were investigated in the epithelial cells, accordingly to the present knowledge on DEP toxicity. The release of IL-6 and VEGF was significantly augmented in diesel exposed cells. In endothelial cells, VCAM-1 and ICAM-1 adhesion molecules levels were increased after exposure to the conditioned media. By interfering with IL-6 binding to its endothelial receptor, we demonstrate the role of this interleukin in inducing the endothelial response. DEP modulates oxidative stress, MAPK activation and IL-6 release in lung cells. Treatments with endothelial supernatants induce endothelial activation which is down-regulated by IL-6 suppression
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation
No full textIn the past, most congenital hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insights into the pathogenic mechanisms and the advances of genetic analyses have reopened the discussion about the etiology of CH with thyroid in situ. We report the etiological re-evaluation of 31 children with thyroid in situ, who had been identified by the CH screening program. The purposes of this re-evaluation were: a) to investigate the definitive diagnosis and pathogenetic mechanism of CH with thyroid in situ in eligible children suspected of dyshormonogenetic defect and b) to verify the adequacy of the treatment schedules. Thirty out of 31 children were affected with permanent hypothyroidism and only one child was euthyroid at re-evaluation (transient CH). Thyroid hormone organisation defects were present in less than half of the CH patients with thyroid in situ (13/30); a higher prevalence of partial defects of iodine organification than severe or complete forms was found. An inactivating TSH-receptor gene mutation was found in only one patient without iodine organification defect. Some questions remain unanswered concerning the adequacy of the schedules of treatment, particularly about the proper treatment of mild and borderline forms of CH
Gene expression profiling of human bronchial epithelial cells exposed to seasonal Milan particulate matter
No full textParticulate matter (PM) exposure is related to various health effects which may involve respiratory and cardiovascular diseases, as well as cancer induction; such different effects are produced by
variable PM characteristics. We have previously reported that Milan PM composition is related to the sampling season and the particles size, and these properties are responsible for different
effects on in vitro systems1. PM2.5 is dominated by combustion derived particles consisting of a carbonaceous core with organic and inorganic compounds adsorbed on its surface. Organic
components of this fraction are mostly present in winter and they are responsible for inducing high level of ROS formation and DNA damage2. PM10 derives from abrasion and resuspension
processes, and is enriched in crustal materials (metals) and biological components (endotoxins), especially during summer season; thus this fraction induces pro‐inflammatory responses on human
cells. The mechanisms underlying PM‐induced effects are not completely understood and investigations on the cellular gene expression patterns, modulated after particles exposure, might greatly
help this knowledge, elucidating the main molecular pathway involved.
Aim: The genome wide expression profiles and the molecular changes associated with urban PM fractions have been investigated to individuate the pathways activated
Congenital hypothyroidism with gland in situ: diagnostic revaluation.
No full textIn the past, most Congenital Hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insights into the pathogenic mechanisms and the advances of genetic analyses have reopened the discussion about the etiology of CH with thyroid in situ. We report the etiological revaluation of 31 children with thyroid in situ, who had been identified by the CH screening program. The purpose of this revaluation was to investigate the definitive diagnosis and pathogenic mechanism of CH with thyroid in situ in eligible children suspected of dyshormonogenic defect and to verify the adequacy of the treatment schedules.
Thirty out of thirty-one children were affected with permanent hypothyroidism and only one child was euthyroid at revaluation (transient CH). I-123 scintigraphy with perchlorate discharge test showed 13 children with iodine organification defects. In patients without iodine organification defect, analyses of TSH-receptor and PAX8 genes showed an inactivating TSH-receptor gene mutation in one patient.
Thyroid hormone organification defect were present only in half of the CH patients with thyroid in situ. A higher prevalence of partial defects of iodine organification than severe or complete forms was found. So far, genetic analyses have provided etiological diagnosis in a limited subset of patients. Some questions remain unanswered concerning the proper treatment of mild and borderline forms of CH
Integrative transcriptomic and protein analysis of human bronchial BEAS-2B exposed to seasonal urban particulate matter
No full textBACKGROUND:
Exposure to particulate matter (PM) is associated with various health effects. Physico-chemical properties influence the toxicological impact of PM, nonetheless the mechanisms underlying PM-induced effects are not completely understood.
OBJECTIVES:
Human bronchial epithelial cells were used to analyse the pathways activated after exposure to summer and winter urban PM and to identify possible markers of exposure.
METHODS:
BEAS-2B cells were exposed for 24 h to 10 μg/cm(2) of winter PM2.5 (wPM) and summer PM10 (sPM) sampled in Milan. A microarray technology was used to profile the cells gene expression. Genes and microRNAs were analyzed by bioinformatics technique to identify pathways involved in cellular responses. Selected genes and pathways were validated at protein level (western blot, membrane protein arrays and ELISA).
RESULTS:
The molecular networks activated by the two PM evidenced a correlation among oxidative stress, inflammation and DNA damage responses. sPM induced the release of pro-inflammatory mediators, although miR-146a and genes related to inflammation resulted up-regulated by both PM. Moreover both PM affected a set of genes, proteins and miRNAs related to antioxidant responses, cancer development, extracellular matrix remodeling and cytoskeleton organization, while miR-29c, implicated in epigenetic modification, resulted up-regulated only by wPM. sPM effects may be related to biological and inorganic components, while wPM apparently related to the high content of organic compounds.
CONCLUSIONS:
These results may be helpful for the individuation of biomarkers for PM exposure, linked to the specific PM physico-chemical properties
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