189 research outputs found
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy
No full textAvailable online 9 September 2015Abstract not availableJohn A. Damiano, Saul A. Mullen, Michael S. Hildebrand, Susannah T. Bellows, Kate M. Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M. Dahl, Heather C. Mefford, Benjamin W. Darbro, Ingrid E. Scheffer, Samuel F. Berkovi
Data on the detection of clinically significant prostate cancer by magnetic resonance imaging (MRI)-guided targeted and systematic biopsy
No full textThis is a dataset from the original publication “Reasons for missing clinically significant prostate cancer by targeted magnetic resonance imaging/ultrasound fusion-guided biopsy”. From 01/2014 to 04/2019 a sample collective of 785 patients with 3T multiparametric magnetic resonance imaging (mp-MRI) of the prostate and subsequent combined systematic biopsy (SB) and magnetic resonance imaging/ultrasound (US) fusion-guided biopsy (TB) was retrospectively analyzed. Prostate carcinoma (PCa) detection by TB and/or additional SB was analyzed.Related research article:
Klingebiel M., Arsov C., Ullrich T., Quentin M., Al-Monajjed R., Mally D., Sawicki L.M., Hiester A., Esposito I., Albers P., Antoch G., Schimmöller L., Reasons for missing clinically significant prostate cancer by targeted magnetic resonance imaging/ultrasound fusion-guided biopsy, Eur J Radiol. 2021 Apr;137:109587. DOI: 10.1016/j.ejrad.2021.10958
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
No full textObjective: Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent in each family was a heterozygous carrier of the mutation. The possibility of parental mosaicism of PCDH19 mutations was investigated.
Methods: Genomic DNA from peripheral blood was obtained and sequenced for PCDH19 mutations. Parentage was confirmed by markers.
Results: Both sister pairs have a mutation in PCDH19. Sister pair 1 has a missense mutation, c.74T>C, L25P, while sequence analysis indicates both of their parents are negative for the mutation. Diagnostic restriction enzyme analysis detected low-level mosaicism of the mutation in their mother. Sister pair 2 are half-sisters who share a mother and each has the missense PCDH19 mutation c.1019 A>G, N340S. The sequence chromatograph of their mother shows reduced signal for the same mutation. These data indicate maternal somatic and gonadal mosaicism of the PCDH19 mutation in both sister pairs. Phenotyping is suggestive of, and PCDH19 mutation detection is diagnostic for, the disorder EFMR in the affected girls.
Conclusions: We show that gonadal mosaicism of a PCDH19 mutation in a parent is an important molecular mechanism associated with the inheritance of EFMR. This should be considered when providing genetic counseling for couples who have one affected daughter as they may risk recurrence of affected daughters and having sons at risk of transmitting EFMR.L.M. Dibbens, R. Kneen, M.A. Bayly, S.E. Heron, T. Arsov, J.A. Damiano, T. Desai, J. Gibbs, F. McKenzie, J.C. Mulley, A. Ronan, I.E. Scheffe
Researches in the activity of pure and mixed cultures Lactobacillus bulgaricus and Streptococcus thermophilus in enzymatically hydrolyzed milk
Get PDFProučavali smo utjecaj enzimatski razgrađene laktoze enzimom beta-galaktozidazom (Maxilact LX 5.000) na aktivnosti čistih i miješanih kultura Lbc. buigaricus i Str. thermophilus. Aktivnost kultura smo utvrđivali na osnovi vremena koagulacije, tvorbe mliječne kiseline, porasta broja mikroorganizama pojedinih kultura pri temperaturi 42 °C u postfermentacijskom razdoblju pri temperaturi 6 °C. Utjecaj enzimatski razgrađene laktoze u mlijeku na povećanu aktivnost kulture bilo je moguće točno odrediti samo u čistim kulturama Str. thermophilus.The effect of enzymatically disintegrated lactose by the enzyme beta-galactosidase (Maxilact LX 5000) on the activity of pure and mixed cultures Lbc. bulgaricus and Str. thermophilus was studied. The cultures' activity was determined on the basis of the duration of coagulation, formation of lactic acid and increase of the number of microorganisms of separate cultures at the temperature of 42°C and in the postfermentational period at the temperature of 6°C. The effect of enzymatically disintegrated lactose in milk on the increased activity of the culture could be determined more definitely only with pure cultures of Str. thermophilus
A 4D tomographic ionospheric model to support PPP-RTK
No full textSuccessful implementation of integer ambiguity resolution enabled precise point positioning (aka PPP-RTK) algorithms is inextricably linked to the ability of a user to perform near real-time positioning by quickly and reliably resolving the integer carrier-phase ambiguities. In the PPP-RTK technique, a major barrier to successful ambiguity resolution is the unmodelled impact of the ionosphere. We present a 4D ionospheric tomographic model that computes in real time the ionospheric electron density as a linear combination of basis functions, namely B-splines. The results show that when the ionospheric estimates are provided as atmospheric corrections for a PPP-RTK end-user, the time to fix its horizontal position below 10 cm is around 20 epochs (the sample rate is 30 s) at the 90 % of the cumulative distribution function (CDF), as opposed to the time it takes when no external corrections are provided, which is around 80 epochs at 90 % of the CDF.Green Open Access added to TU Delft Institutional Repository ‘You share, we take care!’ – Taverne project https://www.openaccess.nl/en/you-share-we-take-care Otherwise as indicated in the copyright section: the publisher is the copyright holder of this work and the author uses the Dutch legislation to make this work public.Mathematical Geodesy and Positionin
Влијанието на климатските услови врз појавата и развојот на пламеница (Plasmopara viticola) кај виновата лоза во Виничкиот регион
Get PDFПламеницата кај виновата лоза (Plasmopara viticola) претставува една од најзначајните и најраспространети болести што се јавува речиси секоја вегетациска сезона и претставува сериозен проблем за лозарите. Болеста е присутна во сите лозарски региони каде што владеат поволни климатски услови, особено во топли и влажни години. Предизвикувачот е оомицетна габа која ги инфицира листовите, цветовите, ластарите и гроздовите, предизвикувајќи појава на жолтеникави флеки на горната страна од листот и белузлава мицелијална превлака на долната страна. Развојот на болеста е тесно поврзан со присуството на влага и соодветна температура, при што оптимални услови се релативна влажност над 85 % и температура од 18 до 25 °C
In vitro induction of organogenesis and genetic transformation of cannabis (Cannabis sativa)
No full textVzpostavili smo uspešen protokol za gensko transformacijo konoplje (Cannabis sativa
L.). Za določitev protokola za adventivno regeneracijo konoplje smo izvedli več
poskusov. Najprej smo preizkusili različne regenerativne sposobnosti treh tipov
izsečkov (listnih pecljev, listnih izsečkov in internodijev) ter njihov potencial za tvorbo
kalusa. Raziskan je bil tudi učinek osnovnih gojišč DKW (Driver in Kuniyuki, 1984) in
MS (Murashige in Skoog, 1962). Predmet raziskave je bil tudi vpliv svetlobnega režima
na regenerativni potencial listnih pecljev in organogenetski potencial šestih genotipov
konoplje za uporabo v medicinske namene ter ene industrijske sorte konoplje.
Proučevan je bil tudi vpliv različnih koncentracij fitohormonov, kot so tidiazuron
(TDZ), 6-benzilaminopurin (BAP) in 1-naftalenocetna kislina (NAA), da bi našli najbolj
obetavno kombinacijo za razvoj kalusa in poganjkov. Listni peclji genotipa BF.KEM1.2
so imeli večji potencial za razvoj kalusa in poganjkov v primerjavi z drugima dvema
tipoma izsečkov. Vzpostavljena je bila adventivna regeneracija netransformiranih
poganjkov s 5 % uspešnostjo iz listnih pecljev genotipa BF.KEM3 na gojišču DKW z
0,2 mg/l TDZ, 0,5 mg/l NAA in 0,1 μM/l peptida fitosulfokin (PSK). Prisotnost svetlobe
je pozitivno vplivala na razvoj poganjkov in kalusa. Nadalje smo listne peclje iz
genotipa BF.KEM3 transformirali s kokultivacijo z bakterijo Agrobacterium
tumefaciens, ki je vsebovala plazmid pCAMBIA1302-ZsGreen, ki vsebuje v svoji regiji
T-DNA selekcijski gen hptII in reporterski gen ZsGreen. Prisotnost reporterskega gena
ZsGreen smo preverili z detekcijo zelene fluorescence in verižno reakcijo s polimerazo
(PCR) ter ga potrdili v 95 % pregledanih transformiranih kalusnih skupkih, prisotnost
gena hptII pa smo potrdili s PCR pri 85 % pregledanih transformiranih kalusnih skupkih.We have established a successful protocol for the genetic transformation of cannabis (C.
sativa L.). More stages of research were performed to establish the protocol for
adventitious regeneration of cannabis. We have first tested the different regenerative
potentials of three explant types (petioles, leaf cuttings, and internodes), and their
potential to produce callus. The effect of the DKW (Driver in Kuniyuki, 1984), and MS
(Murashige in Skoog, 1962) basic media was also explored. The influence of the light
regime on the regenerative potential of petioles, and the organogenetic potential of 6
medicinal genotypes one industrial cultivar of cannabis was also the subject of research.
The different concentrations of phytohormones thidiazurone (TDZ), 6-
benzylaminopurine (BAP), and 1-naphtaleneacetic acid (NAA), were also investigated
to find the most promising combination for callus production and shoot development.
Petioles from the BF.KEM1.2 genotype, showed the highest potential for callus and
shoots development compared with the other two explant types. Adventitious
regeneration of non-transformed shoots was also successfully established, with a 5%
rate of success, from the petioles of the BF.KEM3 genotype, on the DKW medium
supplemented with 0,2 mg/l of TDZ, 0,5 mg/l of NAA, and 0,1 μM/l of the
phytosulfokine (PSK) peptide. The presence of light positively influenced the shoots
and callus development. Furtherly, petioles from the genotype BF.KEM3 were
transformed by co-cultivation with Agrobacterium tumefaciens, which was carrying the
pCAMBIA1302-ZsGreen plasmid, which contains in its T-DNA region selection gene
hptII and reporter gene ZsGreen. We have confirmed the presence of the ZsGreen
reporter gene in 95 % of the examined transformed calli and the presence of the hptII
gene was confirmed in 85 % of the examined transformed calli
One Step Real Time Polymerase Chain reaction using for detection of Plum Pox Potyvirus
Get PDFPlant viruses are group of pathogens that cause and important loses in different fruit production and they have and great economic importance. They are obligate parasite form and for their replication they used plant cells. One of the most important virus on many Prunus species, causing great economic losses is Plum pox virus (PPV), causal agent of Sharka disease.
Plum pox potyvirus (PPV) is a filamentous virus, that can be a part of phloem tissue in fruit-production species of Prunus, including apricots, peaches and plums. Since its discovery, Sharka has been considered as a calamity in plum orchards. In highly susceptible plum varieties presents in Macedonia, such as Požegača and Stenlej, PPV causes a premature fruit drop and reduces fruit quality, which leads to total yield loss. The same symptoms and loses are obviously in the peach and cherry garden. Eight PPV strains (PPV-M, PPV-D, PPV-EA, PPV-C, PPV-Rec, PPV-W, PPV-T and PPV-CR) have been recognized so far. Three major strains (PPV-M, PPV-D and PPV-Rec) are the most widely dispersed and occur frequently in many European countries. Other strains are of minor importance due to their limited host preferences or geographic distribution
Influence of water vapor and aerosols on downward longwave radiation in the high mountain region of Musala peak, Bulgaria
No full textThis study reveals the effect of aerosols and water vapor on downward longwave radiation in the high mountain region of Musala peak, Bulgaria. The investigated period is 01/01/2017 (Jan. 1st 2017) – 30/09/2019 (Sep. 30th 2019). Statistical methods are the main tool for discovering the relationships between the different elements. The results indicate that air temperature is the leading factor for downward longwave radiation, specific humidity, and amount of aerosols in the air. That is why, in order to reveal the pure relationship between downward longwave radiation, specific humidity and amount of aerosols in the atmosphere, the air temperature was cleared from the data series. After this procedure, the results show that specific humidity has a significant influence on the downward longwave radiation flux, and an increase of 1% of the specific humidity results in an increase of about 12-15% in the values of the downward longwave radiation. At air temperatures around 0ºC the influence of water vapor on the downward longwave flux is highest, which is due to the phase transitions of the water – a process during which release/absorption of radiation in the longwave spectrum occurs. The amount of aerosols in the atmosphere also has a significant effect on this type of radiation, and an increase of 1% of the amount of aerosols in the air at air temperatures above –5.5°C results in an increase of the downward longwave radiation of about 2-4%. The findings of this study show that coarser and opaque aerosol particles have a stronger effect on downward longwave radiation. In the area of Musala peak, as the air temperature rises, there is an increase in the amount of aerosols in the air, a decrease in their size, and a transition from transparent to opaque aerosols. The combination of these different tendencies causes the influence of aerosols on downward longwave radiation to be strongest in the middle temperature interval – air temperatures between –5.5°C and +5.5°C. Due to the increased total amount of aerosols and increased amount of opaque aerosols, their influence on downward longwave radiation is significant also at air temperatures above 5.5°C
Using BBCH scaleand growing degree days to identifity the growth stages of winter oilseed rapa genotypes in the Skopje region
Get PDFIdentifying the growth stages on oilseed rape accurately is essential for effective crop management. Two commonly used methods for identifying growth stages are growing degree days (GDD) and BBCH scale, by measuring the heat accumulation on daily temperatures and describes the growth stages of plants. The main goal of this research is using a combination of these methods, where can identify the growth stages in production period. The three-year field experiments 2015/16 - 2017/18 were located in the Skopje Region, with two genotypes in 30 variants and 4 replications. Sowing was on October 1, with 8 kg ha-1 seeding rate. BBCH scale for oilseed rape was used to register the stages of development. Growing degree days - GDD were determined by the formula with corrections for Tmax and Tmin values calculated. Germination (09 BBCH), was 7 days in the first and third year and 79 ° C - 65 °C GDD and 8 days in the second year - 65 ° C GDD. The flowering (63 BBCH), begins at 202 days in the first, - 809 °C GDD, 199 days in the second year – 649 ° C GDD, and 198 days third year with 633 °C GDD. Senescence (BBCH 97), began on days 254, with accumulate 1530 °C GDD, days 258 – 1577 °C GDD, and days 265 with 1542 °C GDD in 3, 1 and 2 years. All data obtained from the research are aimed at meeting the needs of producers and researchers related to rapeseed production in order to ensure optimal production
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