Italia-Germania, una comparazione dei livelli di competitivit\ue0 industriale

L\u2019indagine \ue8 stata realizzata dagli uffici dell\u2019area Lavoro e previdenza di Confindustria Bergamo e da ADAPT/Universit\ue0 degli Studi di Modena e Reggio Emilia, con il supporto scientifico ed operativo rispettivamente del Prof. Maurizio Del Conte dell\u2019Universit\ue0 Bocconi di Milano e del Prof. Michele Tiraboschi dell\u2019Universit\ue0 degli Studi di Modena e Reggio Emilia. La parte I, di carattere riassuntivo, esprime la valutazione di Confindustria Bergamo sugli esiti complessivi dell\u2019analisi normativa e della campionatura di esperienze aziendali realizzata. Le due note di approfondimento allegate sono state invece realizzate dai referenti scientifici Maurizio Del Conte e Michele Tiraboschi e riportano le opinioni degli AA. La parte II \ue8 stata redatta da Benedetto Fratello, avvocato giuslavorista e dottore di ricerca in diritto del lavoro presso l\u2019Universit\ue0 Bocconi di Milano (primo capitolo) e da Simone Caroli, Emmanuele Massagli, Davide Mosca e Paolo Tomassetti, ricercatori ADAPT (secondo capitolo). La parte III \ue8 stata redatta da Marina Mariani di Confindustria Bergamo, dottore di ricerca in formazione della persona e mercato del lavoro presso l\u2019Universit\ue0 degli Studi di Bergamo

Particle number and mass exposure concentrations by commuter transport modes in Milan, Italy

There is increasing awareness amongst the general public about exposure to atmospheric pollution while travelling in urban areas especially when taking active travelling modes such as walking and cycling. This study presents a comparative investigation of ultrafine particles (UFP), PM10, PM2.5, PM1 exposure levels associated with four transport modes (i.e., walking, cycling, car, and subway) in the city of Milan measured by means of portable instruments. Significant differences in particle exposure between transport modes were found. The subway mode was characterized by the highest PM mass concentrations: PM10, PM2.5, PM1 subway levels were respectively about 2-4-3 times higher than those of the car and open air active modes (i.e. cycling and walking). Conversely, these latter modes displayed the highest UFP levels about 2 to 3 times higher than the subway and car modes, highlighting the influence of direct traffic emissions. The car mode (closed windows, air conditioning and air recirculation on) reported the lowest PM and UFP concentration levels. In particular, the open-air/car average concentration ratio varied from about 2 for UFP up to 4 for PM1 and 6 for PM10 and PM2.5, showing differences that increase with increasing particle size. This work points out that active mode travelling in Milan city centre in summertime results in higher exposure levels than the car mode. Walkers’ and cyclists’ exposure levels is expected to be even higher during wintertime, due to the higher ambient PM and UFP concentration. Interventions intended to re-design the urban mobility should therefore include dedicated routes in order to limit their exposure to PM and UFP by increasing their distance from road traffic

Which laboratory technique is used for the blood sodium analysis in clinical research? A systematic review.

Circulating sodium is analyzed by flame spectrometry and indirect or direct potentiometry. The differences between estimates returned by the three techniques are often relevant. It is unknown whether peer-reviewed international publications focusing on this parameter provide information about the technique. Objectives of the study were to ascertain if information about the employed technique is provided. A search in the National Library of Medicine for articles whose title contains "hyponatr[a]emia" was performed. We restricted the search to clinical reports including 10 or more humans published in the 2013-2015 and 2017-2019 periods. Authors of papers not reporting the technique were contacted to obtain this information. The study design and journal quartile ranking of each article were also evaluated. For the final analysis, we included 361 articles (2013-2015, n=169; 2017-2019, n=192). Information about the laboratory technique was given in 61(17%) articles. Thanks to our inquiry, we collected this information for 116(32%) further reports. Indirect potentiometry was the most frequently used technique, followed by direct potentiometry. Spectrometry was used in a small minority of studies. Study design, journal ranking and study period did not modulate the mentioned frequency. Most articles focusing on hyponatremia do not provide information on the laboratory technique. This parameter is nowadays analyzed by indirect or, less frequently, direct potentiometry. The figures are similar for high and low impact factor journals and for the 2013-2015 and the 2017-2019 periods. Many authors, reviewers and editors likely assume that the results of this parameter are not influenced by the technique

Bilateral linear scleroderma "en coup de sabre" associated with facial atrophy and neurological complications

BACKGROUND: Linear scleroderma "en coup de sabre" (LSCS) usually affects one side of the face and head in the frontoparietal area with band-like indurated skin lesions. The disease may be associated with facial hemiatrophy. Various ophthalmological and neurological abnormalities have been observed in patients with LSCS. We describe an unusual case of LSC. CASE PRESENTATION: A 23 year old woman presented bilateral LSCS and facial atrophy. The patient had epileptic seizures as well as oculomotor and facial nerve palsy on the left side which also had pronounced skin involvement. Clinical features of different stages of the disease are presented. CONCLUSIONS: The findings of the presented patient with bilateral LSCS and facial atrophy provide further evidence for a neurological etiology of the disease and may also indicate that classic progressive facial hemiatrophy (Parry-Romberg syndrome) and LSCS actually represent different spectra of the same disease

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

ObjectiveNext-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.MethodsSixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies.ResultsA molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%. Variants of unknown significance were found in 17 patients (26%), whereas 16 cases (24%) remained molecularly undefined. The major features of the diagnosed cases were mild proximal muscle weakness (found in 27%) and myalgia (in 24%). Fourteen patients with a molecular diagnosis and mild myopathic features on muscle biopsy remained asymptomatic at a 24-month follow-up.ConclusionsThis study of patients with undiagnosed hyperCKemia, highlighting the advantages of NGS used as a first-tier diagnostic approach in genetically heterogeneous conditions, illustrates the ongoing evolution of molecular diagnosis in the field of clinical neurology. Isolated hyperCKemia can be the sole feature alerting to a progressive muscular disorder requiring careful surveillance

CONGENITAL MYOPATHIES

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CONGENITAL MYOPATHIES

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Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants

We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement. We used targeted next generation sequencing and candidate gene approach to study these families. Compound biallelic heterozygous variants, p.[(Pro648Arg)]; [(His932Tyr)] and p.[(Thr251Ile),(Pro587Leu)]; [(Arg943Cys)], were found in the three patients causing this homogeneous phenotype. Our report on a subset of unrelated patients, that showed a distinct autosomal recessive childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. It also confirms the association between cataracts and neuropathy with variants in POLG. Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis