110 research outputs found
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy
No full textMutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively. However, mutations in these genes account for only a minority (less than 10%) of cases. For a third ADNFLE locus (ENFL2) on chromosome 15q24 the gene was not identified. The involvement of the three loci in the pathogenesis of ADNFLE was investigated in 12 unrelated Italian families, selected on the basis of anamnestic and video-polysomnographic data. Compliant family members were typed for polymorphic markers spanning the analyzed chromosome regions. Linkage analyses excluded association of all chromosome regions with ADNFLE in 72% of cases. In two, four and one families it was impossible to ascertain or exclude association with ENFL1, ENFL2, or ENFL3, respectively, however, no mutations have been detected in the nicotinic receptor genes located in these regions. These data strongly suggest that ENFL1, ENFL2 and ENFL3 are minor loci for the disease and point to the existence of at least a fourth locus for ADNFLE
Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy
No full textHistorie cronologiche dell' origine degl' ordini militari e di tutte le religione caualleresche infino ad hora instituite nel mondo : insegne, croci, stendardi, habiti capitolari ò di ceremonia, statuti, e constituzioni di cadaun'ordine : guerre campali e nauali, azioni, fatti celebri, & imprese de caualieri; confederazioni, trattati, paci, & auuenimenti per difesa del Nome Christiano, e propagazione della fede cattolica : serie di tutti i prencipi gran maestri, ordini di dame, e degl' infedeli &c. con le loro diuise /
No full textSide notes.Paging, v. 1: [20], 432 p. Vol. 2: [2], 433-866 p.Signatures, v. 1: *⁴ 2*⁶ A-3H⁴. Vol. 2: 3I-4Q⁴ 4R⁶ 4S-5O⁴ 5P⁸.Etched frontispiece and port. of Giustiniani by Josef Juster after Giovanni Antonio Lazzari. Five engravings by Isabella Piccini. Large in-text etchings of robes of the orders, one signed with Juster's initials. Woodcuts of arms of the orders within two repeated woodcut borders. Printers' device (La Minerva) on t.p.'s of both vols. Woodcut head- and tail-pieces, some signed D.R. Initials.Previously published in 4to by Combi and La Noù in 1672.Mode of access: Internet.Bound in 2 vols. in vellum. Author, title & vol. no. on spine in gilt. Edges blue
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1
No full textInwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-of-function mutations in the same channel cause the short QT3 syndrome. Recently, a missense mutation in Kir2.1, as well as mutations in the Kir4.1, were reported to be involved in autism spectrum disorders (ASDs) suggesting a role of potassium channels in these diseases and introducing the idea of the existence of K+ channel ASDs. Here, we report the identification in an Italian affected family of a novel missense mutation (p.Phe58Ser) in the KCNJ2 gene detected in heterozygosity in a proband affected by autism and borderline for short QT syndrome type 3. The mutation is located in the N-terminal region of the gene coding for the Kir2.1 channel and in particular in a very conserved domain. In vitro assays demonstrated that this mutation results in an increase of the channel conductance and in its open probability. This gain-of-function of the protein is consistent with the autistic phenotype, which is normally associated to an altered neuronal excitability
Analysis of Human Papillomavirus (HPV) 16 Variants Associated with Cervical Infection in Italian Women
No full textThis study aims to evaluate HPV16 variants distribution in a population of Italian women living in two different regions (Lombardy and Sardinia) by sequence analyses of HPV16-positive cervical samples, in order to reconstruct the phylogenetic relationship among variants to identify the currently circulating lineages. Analyses were conducted starting from DNA isolated from 67 HPV16-positive cervical samples collected from two different Italian centres (31 from Lombardy and 36 from Sardinia) of women with normal and abnormal cervical cytology. The entire long control region (LCR) and 300 nt of the E6 gene was sequenced to identify intra-type variants. Sequence comparison and phylogenetic analysis were made using a distance-based neighbour joining method (NJ) and Kimura two-parameter model. Data obtained reported that Italian sequences mainly belonged to the European lineage, in particular sublineage A2. Only five sequences clustered in non-European branches: two in North American lineage (sublineage D1), two in African-1 (sublineage B1) and one in African-2. A new 27 nucleotide duplication in the central segment of the LCR region was found in a sequence obtained from a sample isolated in Sardinia. A predominance of European variants was detected, with some degree of variability among the studied HPV16 strains. This study contributes to the implementation of data regarding the molecular epidemiology of HPV16 variants
Combi-terminal: Studie naar het toepassen van het combi-terminal concept op een moderne marine terminal
No full textDe kaden bij de marine containerterminals in Noord-Westeuropa hebben een lage bezettingsgraad. De investeringen in de kaden leveren daardoor een laag rendement op. Als oplossing voor dit probleem is het combi-terminal concept naar voren gekomen in de voorgaande studie "Innovatief kade-concept". Bij dit concept worden naast containerschepen ook andere zeeschepen aan de kade behandeld welke een ander produkt aanvoeren. Hiermee zijn de bezettingsgraden te verhogen en het rendement van de kade. Het concept is uitgewerkt voor een containerterminal in de Rotterdamse haven welke in 2007 operationeel moet zijn om de doorgroeiende containerstroom op te vangen. Een dergelijke terminal moet voldoen aan de nieuwste eisen van de gebruiker, met name de containerrederijen. De verwachting is dat deze met 8.000 TEU schepen de belangrijkste lijndiensten gaan onderhouden en eisen dat deze niet langer dan 24 uur in een haven mogen verblijven. Vanuit deze eis volgt de belangrijkste eis aan terminals, een ligplaatsproduktie zien te realiseren van 250 containers per uur. Door per ligplaats 5 twee-kat-kranen in te zetten welke geplaatst zijn op een verhoogde achterkraanbaan kan aan deze eis worden voldaan. Het rendement van een kade neemt dan ook toe doordat er 2,5 keer zoveel containers over de kade gaan in vergelijking met de huidige kaden waar 100 containers per uur per ligplaats over de kade gaan. De terminal moet daarnaast wel investeren in een opslagconcept met een hogere in- en uitslagcapaciteit. Binnen het gekozen concept wordt het rendement verder verhoogd door ook chemie- en olieprodukten over te slaan op de kade. Daarnaast is ook een opslag in de kade geïntegreerd waarin chemie- en/of olieprodukten kunnen worden opgeslagen. Hiermee kunnen ook extra inkomsten per meter kade binnenkomen. Op de Maasvlakte is een opslag in de kade het beste te realiseren door het toepassen van een ontlastconstructie. Deze constructie kan in een open bouwput gebouwd worden als er nog geen activiteiten plaatsvinden op het terminalterrein. De kosten van een dergelijke kade kunnen worden opgebracht door investeringen die gedaan moeten worden voor gelijkwaardige voorzieningen. De overlast voor de containerterminal is minimaal doordat de voorzieningen boven de grond beperkt blijven. Alleen een verhoogd platform met daarop laadarmen voor het behandelen van de tankers staat bovengronds per ligplaats opgesteld. Bij de terminal moet wel een aparte ondiepwaterkade worden aangelegd voor de behandeling van de binnenvaart die niet meer aan de zeekade wordt behandeld. De kadecapaciteit die over is wordt ingezet voor de behandeling van olie- en chemietankers. Nader onderzoek naar de bezetting van de kade en de te verwachten wachttijd en is noodzakelijk om de haalbaarheid met zekerheid vast te stellen. Afhankelijk daarvan kunnen ook de eisen worden vastgesteld die aan de containerschepen en de tankers worden gesteld. Als er dan een bezettingsgraad van 60% valt te realiseren is het concept van de combi-terminal haalbaar, ook op een moderne marine containerterminal.Hydraulic EngineeringCivil Engineering and Geoscience
Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges
No full textDementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorders is often difficult and it is frequently underdiagnosed. Moreover, its genetic etiology has been studied only recently due to the unavailability of large cohorts with a certain diagnosis and shows genetic heterogeneity with a rare contribution of pathogenic mutations and relatively common risk factors. The rapid increase in the reported cases of DLB highlights the need for an easy, efficient and accurate diagnosis of the disease in its initial stages in order to halt or delay the progression. The currently used diagnostic methods proposed by the International DLB consortium rely on a list of criteria that comprises both clinical observations and the use of biomarkers. Herein, we summarize the up-to-now reported knowledge on the genetic architecture of DLB and discuss the use of prodromal biomarkers as well as recent promising candidates from alternative body fluids and new imaging techniques
A database schema for public-domain medical software
No full textThe quantity of public-domain medical software available is huge, and a classification schema may be therefore helpful. We developed a schema that includes identification data (name of the software, author, etc.), description (hardware and software requirements), classification (software category, application domain, etc.) and evaluation data (external quality and internal quality factors). The schema was tested on the public-domain software available at the SCAMC meetings (about 36 Mb). We also classified the software by employing students from a master course in computer science and medical informatics. We stored the high quantity of information collected in a database we developed using Paradox
Simulation and Evaluation of Solar Thermal Combi Systems with Direct Integration of Solar Heat into the Space Heating Loop
No full textAbstractUsually, solar heat in combi systems is used via a buffer storage. In contrast to that, the solar collectors may be connected directly to the space heating circuit in order to store the heat in the building itself. Such a direct solar integration is investigated within system simulations for different layouts and heating elements. The simulations show significant reductions in the final energy demand as well as an increasing solar yield due to less thermal losses of the storage tank compared to the usual solution with one buffer storage. A prototype of one of the investigated heating concepts within a single family house proofs the functionality of the system concept and the high solar yield, particularly at low radiation levels. Since only a few manufacturers provide such system solutions with a direct solar integration, the results may have an important impact on the future development of combi systems
Comparsion of Palax 600 Combi firewood processor's productivity and operating time dependency due to different length
No full textKäesolevas töös on uuritud halumasina Palax 600 Combi tootlikkust ja tööaega ning selle sõltuvust erinevate halupikkuste valmistamisel. Autor annab ülevaate halumasina üldisest ehitusest; uurib, millised protsessid halumasinaga töötamisel võtavad enim aega erinevate halupikkuste korral; analüüsib saadud andmeid ning tutvustab erinevaid abivahendeid, mis on potentsiaalseteks vahenditeks tootlikkuse suurendamiseks. Lisaks on autori poolt saadud uurimistulemusi võrreldud ka Soomes (Kärha, Jouhiaho 2009) tehtud samalaadse uurimusega.
Töö on valminud autori tehtud katsete ning andmete analüüsi põhjal. Antud teemavaldkonda on Eestis suhteliselt vähe uuritud ning materjal on raskesti kättesaadav. Tööst võivad kasu saada nii eraisikud kui ka ettevõtjad, kes tegelevad küttepuude tootmisega.This study is based on the Palax 600 Combi firewood processor. It focuses on the productivity, work time and their dependance on different firewood length.
The author gives an overview of the construction of the machine; studies which processes take the most time while working; analyzes the collected data and introduces different firewood processor accessories which have the potential to incease the machine's productivity. Additionally, the results of the study are compared to similar studies carried out in Finland (Kärha, Jouhiaho 2009).
The study uses data collected by the author through tests and analysis. The given subject is not thoroughly studied in Estonia and information on it is scarce. The study can benefit private users as well as entrepreneurs in firewood production
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