First study on the peptidergic innervation of the brain superior sagittal sinus in humans.

The superior sagittal sinus (SSS) of the mammalian brain is a pain-sensitive intracranial vessel thought to play a role in the pathogenesis of migraine headaches. Here, we aimed to investigate the presence and the potential co-localization of some neurotransmitters in the human SSS. Immunohistochemical and double-labeling immunofluorescence analyses were applied to paraformaldehyde-fixed, paraffin-embedded, coronal sections of the SSS. Protein extraction and Western blotting technique were performed on the same material to confirm the morphological data. Our results showed nerve fibers clustered mainly in large bundles tracking parallel to the longitudinal axis of the sinus, close in proximity to the vascular endothelium. Smaller fascicles of fibers encircled the vascular lumen in a spiral fashion, extending through the subendothelial connective tissue. Isolated nerve fibers were observed around the openings of bridging veins in the sinus or around small vessels extending into the perisinusal dura. The neurotransmitters calcitonin gene related peptide (CGRP), substance P (SP), neuronal nitric oxide synthase (nNOS), vasoactive intestinal polypeptide (VIP), tyrosine hydroxylase (TH), and neuropeptide Y (NPY) were found in parietal nerve structures, distributed all along the length of the SSS. Overall, CGRP- and TH-containing nerve fibers were the most abundant. Neurotransmitters co-localized in the same fibers in the following pairs: CGRP/SP, CGRP/NOS, CGRP/VIP, and TH/NPY. Western blotting analysis confirmed the presence of such neurosubstances in the SSS wall. Overall our data provide the first evidence of the presence and co-localization of critical neurotransmitters in the SSS of the human brain, thus contributing to a better understanding of the sinus functional role

Multimode VIS–NIR transmission through silver coated hollow optical waveguides

Multimode transmission of continuous wave 633 nm radiation and 1064 nm Q-switched Nd:YAG pulses using silver coated hollow core optical waveguides (HCWs) with bore diameters of 700 μm and 1000 μm is reported. The effect of launch conditions, input beam polarization and waveguide bore diameter on the pulse energy transmission and potential for focussing the beam effectively at the HCW exit is detailed. An optimal launch f-number range of 155–165 is identified for minimizing the exit angle

Quartz-enhanced photoacoustic spectroscopy exploiting low-frequency tuning forks as a tool to measure the vibrational relaxation rate in gas species

We demonstrated that quartz-enhanced photoacoustic spectroscopy (QEPAS) is an efficient tool to measure the vibrational relaxation rate of gas species, employing quartz tuning forks (QTFs) as sound detectors. Based on the dependence of the QTF resonance frequency on the resonator geometry, a wide range of acoustic frequencies with narrow detection bandwidth was probed. By measuring the QEPAS signal of the target analyte as well as the resonance properties of different QTFs as a function of the gas pressure, the relaxation time can be retrieved. This approach has been tested in the near infrared range by measuring the CH4 (nν4) vibrational relaxation rate in a mixture of 1% CH4, 0.15 % H2O in N2, and the H2O (ν1) relaxation rate in a mixture of 0.5 % H2O in N2. Relaxation times of 3.2 ms Torr and 0.25 ms Torr were estimated for CH4 and H2O, respectively, in excellent agreement with values reported in literature

H2S quartz-enhanced photoacoustic spectroscopy sensor employing a liquid-nitrogen-cooled THz quantum cascade laser operating in pulsed mode

In this work, we report on a quartz-enhanced photoacoustic spectroscopy (QEPAS) sensor for hydrogen sulfide (H2S) detection, exploiting a liquid-nitrogen-cooled THz quantum cascade laser (QCL) operating in pulsed mode. The spectrophone was designed to accommodate a THz QCL beam and consisted of a custom quartz tuning fork with a large prong spacing, coupled with acoustic resonator tubes. The targeted rotational transition falls at 2.87 THz (95.626 cm−1), with a line-strength of 5.53 ∙ 10-20 cm/mol. A THz QCL peak power of 150 mW was measured at a heat sink temperature of 81 K, pulse width of 1 μs and repetition rate of 15.8 kHz. A QEPAS record sensitivity for H2S detection in the THz range of 360 part-per-billion in volume was achieved at a gas pressure of 60 Torr and 10 s integration time

Broadband detection of methane and nitrous oxide using a distributed-feedback quantum cascade laser array and quartz-enhanced photoacoustic sensing

Here we report on the broadband detection of nitrous oxide (N2O) and methane (CH4) mixtures in dry nitrogen by using a quartz-enhanced photoacoustic (QEPAS) sensor exploiting an array of 32 distributed-feedback quantum cascade lasers, within a spectral emission range of 1190−1340 cm−1 as the excitation source. Methane detection down to a minimum detection limit of 200 ppb at 10 s lock-in integration time was achieved. The sensor demonstrated a linear response in the range of 200−1000 ppm. Three different mixtures of N2O and CH4 in nitrogen at atmospheric pressure have been analyzed. The capability of the developed QEPAS sensor to selectively determine the N2O and CH4 concentrations was demonstrated, in spite of significant overlap in their respective absorption spectra in the investigated spectral range

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases). Clinical data were collected at the time of the mutation analysis and reviewed for accuracy in this investigation. An internal phenotypic categorization was applied. The 94% of the patients enrolled showed a severe phenotype with at least one systemic complication and a wide range of associated malignancies. Spine deformities were the most common complications in this cohort. We also reported 66 different NF1 mutations, of which 7 are novel mutations. Correlation analysis identified a slight significant inverse correlation between age at diagnosis and delayed acquisition of psychomotor skills with residual multi-domain cognitive impairment. Odds ratio with 95% confidence interval showed a higher prevalence of learning disabilities in patients carrying frameshift mutations. Overall, our results aim to offer an interesting contribution to studies on the genotype-phenotype of NF1 and in genetic management and counselling

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family members complaining of reduced distance vision especially at dusk underwent complete ophthalmological examination. Whole-exome sequencing was performed to identify the gene responsible for myopia in the pedigree. Moderate myopia was diagnosed in the family which was associated to the novel missense variant c.1147A > G p.(Lys383Glu) in the prolyl 4-hydroxylase,alpha-polypeptide 2 (P4HA2) gene, which catalyzes the formation of 4-hydroxyproline residues in the collagen strands. In vitro studies demonstrated P4HA2 mRNA and protein reduced expression level as well as decreased collagen hydroxylation and deposition in mutated fibroblast primary cultures compared to healthy cell lines. This study suggests that P4HA2 mutations may lead to myopic axial elongation of eyeball as a consequence of quantitative and structural alterations of collagen. This is the first confirmatory study which associates a novel dominant missense variant in P4HA2 with myopia in Caucasian patients. Further studies in larger cohorts are advisable to fully clarify genotype-phenotype correlations.We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family members complaining of reduced distance vision especially at dusk underwent complete ophthalmological examination. Whole-exome sequencing was performed to identify the gene responsible for myopia in the pedigree. Moderate myopia was diagnosed in the family which was associated to the novel missense variant c.1147A > G p.(Lys383Glu) in the prolyl 4-hydroxylase,alpha-polypeptide 2 (P4HA2) gene, which catalyzes the formation of 4-hydroxyproline residues in the collagen strands. In vitro studies demonstrated P4HA2 mRNA and protein reduced expression level as well as decreased collagen hydroxylation and deposition in mutated fibroblast primary cultures compared to healthy cell lines. This study suggests that P4HA2 mutations may lead to myopic axial elongation of eyeball as a consequence of quantitative and structural alterations of collagen. This is the first confirmatory study which associates a novel dominant missense variant in P4HA2 with myopia in Caucasian patients. Further studies in larger cohorts are advisable to fully clarify genotype-phenotype correlations

The detection of malingering amnesia: an approach involving multiple strategies in a mock crime

The nature of amnesia in the context of crime has been the subject of a prolonged debate. It is not uncommon that after committing a violent crime, the offender either does not have any memory of the event or recalls it with some gaps in its recollection. A number of studies have been conducted in order to differentiate between simulated and genuine amnesia. The recognition of probable malingering requires several inferential methods. For instance, it typically involves the defendant\u2019s medical records, self-reports, the observed behavior, and the results of a comprehensive neuropsychological examination. In addition, a variety of procedures that may detect very specific malingered amnesia in crime have been developed. In this paper, we investigated the efficacy of three techniques, facial thermography, kinematic analysis, and symptom validity testing in detecting malingering of amnesia in crime. Participants were randomly assigned to two different experimental conditions: a group was instructed to simulate amnesia after a mock homicide, and a second group was simply asked to behave honestly after committing the mock homicide. The outcomes show that kinematic analysis and symptom validity testing achieve significant accuracy in detecting feigned amnesia, while thermal imaging does not provide converging evidence. Results are encouraging and may provide a first step towards the application of these procedures in a multimethod approach on crime-specific cases of amnesia

I fattori comportamentali tra i lavoratori in Emilia-Romagna secondo la sorveglianza PASSI

INTRODUZIONE: In Italia, la promozione della salute sui luoghi di lavoro sta evolvendo, orientata dal D.lgs. 81/2008 e in linea con iniziative internazionali come il Workplace Health Promotion (WHP). Accanto a scuole e luoghi di cura, anche il posto di lavoro è ormai identificato come setting opportunistico per svolgere attività di prevenzione, non solo mirata a fattori di rischio occupazionali o alla cultura della sicurezza, ma anche come educazione a stili di vita salutari. L’obiettivo è descrivere i differenziali dei principali fattori di rischio comportamentali in relazione alla condizione lavorativa, alla mansione e al settore d’impiego per indirizzare la promozione della salute nei luoghi di lavoro. MATERIALI E METODI: Sono state analizzate 9977 interviste PASSI di persone di 18-69 anni, raccolte nel triennio 2010-12 in Emilia-Romagna, regione aderente al modulo opzionale sulla sicurezza sul lavoro. PASSI è una sorveglianza nazionale sui fattori comportamentali di salute realizzata mediante interviste telefoniche effettuate da operatori dei Dipartimenti di prevenzione delle ASL italiane. L’analisi mette in relazione alcuni comportamenti con le principali variabili socio-demografiche (classe d’età, sesso, livello d’istruzione, difficoltà economiche, cittadinanza) e quelle riguardanti mansione svolta e settore d’impiego. I fattori indagati sono: abitudine tabagica, consumo di alcol, indice di massa corporea e attività fisica svolta. RISULTATI: Il 29.3% degli intervistati ha dichiarato di essere fumatore. L’abitudine tabagica è maggiore negli uomini (32.9%), nella fascia d’età 18-34 anni (34.0%), nelle persone con bassa scolarità (32.9%) e con molte difficoltà economiche percepite (42.2%). Emergono differenze per condizione lavorativa: fuma il 31.3% (IC95% 30.1-32.5) di chi lavora in modo continuativo, il 37.2% (IC95% 32.7-42.0) di chi lavora in modo non continuativo e il 23.6% (IC95% 22.0-25.3) di chi non lavora. Il dato è disomogeneo anche per settori d’impiego, dal 18.5% del settore scolastico al 39.5% dell’industria del legno e della carta, e per mansione svolta, dal 14.6% nelle forze dell’ordine al 39.8% negli operai. Il fumo è più frequente tra chi svolge una mansione manuale (38.4% IC95% 36.2-40.7). Secondo i criteri PASSI, il 21.4% degli intervistati è definito consumatore di alcol a maggior rischio per la salute. Tale dato è maggiore negli uomini (27.9%), tra 18-34 anni (34.2%) e in persone con alto grado d’istruzione (23.1%). La prevalenza per condizione lavorativa è del 21,3% (IC95% 20.3-22.4) tra chi lavora in modo continuativo, 27.3% (IC95% 23.3-31.8) tra chi in modo discontinuo e del 20.7% (IC95% 19.1-22.3) in chi non lavora. Tra i lavoratori è più diffuso il consumo definito binge drinking (12.0% IC95% 11.2-12.8). I settori meno interessati sono la pubblica amministrazione e la sanità (14.8%), mentre nei trasporti si raggiunge il 28%. Il 42.9% degli intervistati risulta in eccesso ponderale: il 31.7% in sovrappeso e l’11.2% obeso. Gli uomini (53.1%), la fascia d’età 50-69 anni (58.1%), le persone a bassa scolarità (53.1%) e coloro che percepiscono difficoltà economiche (46.5%) sono le categorie più coinvolte. Tra chi lavora in modo continuativo la prevalenza è del 41.4% (IC95% 40.1-42.7), tra chi lavora saltuariamente è del 39.0% (IC95% 34.5-43.7) e 46.7% (IC95% 44.8-48.6) tra chi non lavora. Tra settori, l’eccesso ponderale è meno rappresentato in quello scolastico (30.2%) e molto diffuso nell’agricolo (55.1%). Tra le mansioni, è più frequente in chi lavora manualmente (47.4%) e le percentuali vanno dal 28.0% degli insegnanti al 55.9% delle forze dell’ordine. Secondo i criteri PASSI, il 21.5% degli intervistati è sedentario, il 41,7% parzialmente attivo e il 36,8% attivo. La sedentarietà è più diffusa tra le donne (22.4%), nella fascia d’età 50-69 anni (25.5%), in persone con basso livello d’istruzione (26.6%), con molte difficoltà economiche percepite (27.4%) e di nazionalità straniera (27.8%). Chi lavora in modo continuativo ha una prevalenza del 21.1% (IC95% 19.9-22.2), del 27.1% (IC95% 22.9-31.8) chi lo fa in modo discontinuo e del 21.5% (IC95% 19.9-23.2) chi non lavora. Si evidenziano, inoltre, differenze per settore (dal 15.1% della sanità al 25.9% dei trasporti) e per mansione (dall’8.9% tra i medici al 27.6% nei commercianti). In tab.1 sono riportate le classi a maggiore rischio e i relativi OR emersi all’analisi multivariata. CONCLUSIONI: La sorveglianza PASSI ha evidenziato una disomogenea prevalenza di fattori di rischio comportamentali sia per categorie socio-demografiche, sia per diversi settori e mansioni lavorative. Pur essendo effettuate su dati riferiti, con limiti e possibili bias, le analisi mostrano una realtà che avvalora l’importanza di un’estesa e mirata attività di promozione della salute in ambito lavorativo e, in questo contesto, PASSI può fornire importanti informazioni per programmare e valutare gli interventi di WHP