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Hue Correction In Hdr Tone-Mapping

Bronislav Přibyl, Michal Seeman, Pavel Zemcik
2013 Zenodo  
Publication in the conference proceedings of EUSIPCO, Marrakech, Morocco, 2013
doi:10.5281/zenodo.43711 fatcat:zalkmil27vervbh75drvi2yxfm

Genetics of hereditary spastic paraplegias
Genetika hereditárních spastických paraplegií

Anna Uhrová Mészárosová, Pavel Seeman
2019 Neurologie pro praxi  
1 DNA laboratoř Kliniky dětské neurologie, 2. LF UK a FN Motol, Praha 2 Centrum lékařské genetiky a fetální medicíny, GENNET, s. r. o., Praha Hereditární spastická paraparéza (HSP, též SPG) je klinicky i geneticky vysoce heterogenní závažné onemocnění centrálního motoneuronu, charakterizované progredující spasticitou a slabostí dolních končetin a poruchou chůze. Do dnešní doby bylo popsáno přes 90 genů nebo genových lokusů, jejichž mutace jsou zodpovědné za rozvoj HSP. Podrobnější zmapování
more » ... tické podstaty nemoci nebylo až donedávna možné, teprve rozvoj nových sekvenačních metod v posledních letech otevírá možnost postupně doplňovat chybějící genetické i klinické poznatky. U českých pacientů s HSP se vyskytuje nejméně 12 genetických typů nemoci, nejčastěji typ SPG4 a dále SPG31 s autosomálně dominantní dědičností a SPG11 a SPG7 s autosomálně recesivní dědičností, podobně jako v jiných evropských zemích. Naopak rozdílně od řady dřívějších publikací z jiných zemí je v České republice nízký výskyt typu SPG3. Procento geneticky diagnostikovaných a DNA vyšetřením objasněných pacientů je pak výrazně vyšší mezi pacienty s familiárním (tzn. vícečetným) výskytem onemocnění v rodině. Tato fakta je dobré zohlednit při indikaci genetických vyšetření u pacientů se suspektní HSP. Klíčová slova: HSP, SPG4, SPG31, SPG7, SPG11, sporadičtí a familiární pacienti. Genetics of hereditary spastic paraplegias Hereditary spastic parapalegia (HSP or SPG) is clinically and genetically heterogenous serious disease of the central motoneuron. It is characterised by progressive spasticity and weakness of lower libms leading to progressive gait impairement. Pathogenic variants causing HSP in more than 90 genes or gene loci where described to date. Methods of new generation sequencing allow us to map the genetic background of HSP and to bring new knowledges about clinical spectrum of particular types of HSP. There exist at least 12 types of HSP among Czech HSP patients, the most frequent types are SPG4, SPG31 with autosomal dominant and SPG7 and SPG11 with autosomal recessive mode of inheritance, similarly like in other European countries. In spite of previously published data from other populations the occurence of SPG3 is suprisingly low in the Czech Republic. The percentage of genetically and by DNA testing evaluated patients is much higher among familial patients (more affected persons in the family) compared to the sporadic ones. These facts should be taken into account for genetic testing consideration.
doi:10.36290/neu.2019.047 fatcat:4awk5qikhjcbfja73mk63zr7tu

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal, Pavel Seeman
2016 Orphanet Journal of Rare Diseases  
Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity. Methods: In our study, we have designed, validated and updated our own custom gene panel of all known genes associated with IPN. One hundred and ninety-eight patients
more » ... been tested so far. Only patients in whom mutations in more common causes or relevant genes have already been excluded were enrolled. Five consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three genes. Each patient was tested only once. All data were evaluated with at least two different pipelines. Results: In summary, causative mutation has been found in fifty-one patients (26 %). The results were inconclusive in thirty-one (16 %) patients. No variants of likely significance to IPN were found in one hundred and sixteen (58 %) patients. Conclusion: MPS gene panel enables testing of all known IPN causes at once with high coverage and at an affordable cost making it truly a method of choice also in IPN. Gene panel testing results in several interesting results and findings.
doi:10.1186/s13023-016-0500-5 pmid:27549087 pmcid:PMC4994270 fatcat:rsvmxi76kvetzl63zb3y6hy7ba

Hereditary neuropathy with liability to pressure palsy

Justyna Paprocka, Maciej Kajor, Ewa Jamroz, Aleksandra Jezela-Stanek, Pavel Seeman, Elzbieta Marszał
2006 Folia Neuropathologica  
Molecular analysis (set of 17 microsatellite markers -method described at Seeman P et al. Int J Mol 2000) revealed the typical HNPP deletion.  ... 
pmid:17183456 fatcat:rkpu56mvqzgvtlstatsuilnnfu

Hereditary motor neuropathies
Hereditární motorické neuropatie

Radim Mazanec, Jana Neupauerová, Daniel Baumgartner, Veronika Potočková, Petra Laššuthová, Dana Šafka-Brožková, Pavel Seeman
2016 Neurologie pro praxi  
Hereditární motorické neuropatie (HMN), někdy též nazývané distální spinální svalové atrofie (dSMA), jsou charakterizované selektivním postižením motorické části periferního nervového systému. Představují asi 10 % všech hereditárních neuropatií. Typickým znakem jsou symetrické svalové atrofie, které postihují distální svaly končetin a vykazují tzv. na délce nervu závislý (length dependent) vzorec poruchy. Představují heterogenní skupinu motorických neuropatií s významnou variabilitou fenotypu a
more » ... velkou genetickou heterogenitou s různými typy dědičnosti. Aktuálně bylo popsáno více než 12 různých genů, jejichž mutace jsou kauzální pro různé formy HMN. Jednotlivé formy se liší věkem nástupu příznaků, primárním postižením buď horních nebo dolních končetin a kombinací s dalšími příznaky např. s pyramidovými jevy, minoritními senzitivními poruchami, neuromyotonií, parézou hlasivek. Diagnostika se vedle kliniky a elektrodiagnostiky opírá o molekulárně genetické testy a nálezy kauzálních mutací. Diferenciální diagnostika je důležitá proti CMT nemoci, nemocem periferního motoneuronu, včetně juvenilní familární formy amyotrofické laterální sklerózy nebo získané multifokální motorické neuropatie. Kauzální terapie není k dispozici a základem je rehabilitační a lázeňská léčba, dále protetické a zdravotní pomůcky. V případě stanovení kauzální mutace je důležité genetické poradenství a v některých případech i zajištění prenatální či preimplantační diagnostiky.
doi:10.36290/neu.2016.074 fatcat:bbs3f4pgxjdari27ojfyk5otym

Accelerated image resampling for geometry correction

Pavel Zemčík, Bronislav Přibyl, Adam Herout, Michal Seeman
2011 Journal of Real-Time Image Processing  
This paper introduces a fast algorithm intended for corrections of image distortions caused by lenses or similar devices in real time. Not only the algorithm itself is introduced, but also the paper focuses on its acceleration with the focus on programmable hardware. The presented algorithm is designed to correct small geometrical distortions, where the displacement of the location is only few pixels. However, the resampling is done with high subpixel precision. Description of the geometry of
more » ... e distortions is done through a square or rectangular mesh, where simple bilinear interpolation within each node is exploited to calculate sub-pixel location of the samples. The paper describes the algorithm, its features, specifics the important for implementation, data formats, implementation in field programmable gate arrays, and summarizes the achieved results.
doi:10.1007/s11554-011-0213-x fatcat:qju4wtgr6jaw7oruh3g2fexqce

Hereditary spastic paraplegias: clinical and genetic aspects
Hereditární spastické paraparézy: klinické a genetické aspekty

Anna Uhrová Mészárosová, Radim Mazanec, Pavel Seeman
2016 Neurologie pro praxi  
1 DNA laboratoř Kliniky dětské neurologie 2. LF UK a FN Motol, Praha 2 Neurologická klinika 2. LF UK a FN Motol, Praha 3 Centrum lékařské genetiky a fetální medicíny GENNET, Praha Hereditární spastické paraparézy (HSP) jsou heterogenní skupinou onemocnění centrálního motoneuronu charakterizované bilaterální progredující spasticitou a slabostí dolních končetin. Klinické příznaky nemoci jsou způsobeny postupnou degenerací axonů kortikospinální dráhy a zadních provazců míšních. HSP se manifestuje
more » ... oruchou chůze, kterou zaznamená buď sám pacient nebo si zhoršené chůze povšimne jeho okolí. Subjektivně může pacient pociťovat ztuhlost dolních končetin nebo také udává křeče svalů. Nástup onemocnění bývá pozvolný a nenápadný, symptomy se mohou začít projevovat v kterémkoli věku od předškolního dětství až do pozdních dekád života. Příčinou onemocnění je vrozená genová porucha/mutace některého z více než 50 genů popsaných u HSP. U největšího procenta pacientů jsou příčinou mutace genu SPAST (SPG4). V současnosti dostupná léčba je pouze symptomatická. Onemocnění je uváděno též pod názvem spastická paraplegie nebo onemocnění Strümpell-Lorrain. Klíčová slova: hereditární spastická paraplegie, spastická paraparéza, hyperreflexie, spasticita, SPAST (SPG4), ATL1 (SPG3). Hereditary spastic paraplegias: clinical and genetic aspects Hereditary spastic paraplegias (HSPs) are a heterogeneous group of central motor neuron disorders characterized by bilateral progressive spasticity and weakness of the lower limbs. The clinical features are caused by progressive axonal degeneration of the corticospinal tract and dorsal columns. Typical clinical symptoms are progressive gait impairment and spasticity of the lower limbs. Clinical symptoms can manifest at any age (from preschool to the elderly), symptoms onset can be very slow. HSP is caused by a pathogenic genetic variant/ mutation in one of more than 50 genes described with HSP. For the majority of patients, the causal mutation is localised in the SPAST gene (SPG4). The available treatment is only symptomatological. The disease is also known as Strümpell-Lorrain disease.
doi:10.36290/neu.2016.079 fatcat:5t7alwtfk5ccte6hnnpaz75hke

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Pavel Seeman, Kateřina Gebertová, Kateřina Paděrová, Karl Sperling, Eva Seemanová
2004 Pediatric Neurology  
The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignancies. Most Nijmegen breakage syndrome patients are of Slavonic origin, and all of them known so far carry a founder homozygous 5 nucleotide deletion in the NBS1 gene. Microcephaly was present in 100% of Nijmegen breakage syndrome patients in
more » ... a recent large international cooperative study. The frequency of Nijmegen breakage syndrome among children with primary microcephaly was not known. Early correct diagnosis of the syndrome is crucial for appropriate preventive care and therapy. We tested 67 Czech patients of different ages with simple microcephaly for the presence of the most common mutation in the NBS1 gene. Three new Nijmegen breakage syndrome cases were detected in this cohort, representing 4.5% of the cohort. All these newly diagnosed Nijmegen breakage syndrome patients were younger than 10 months at the time of diagnosis. They were all born within a 2.5-year period. Twenty-three of the 67 children in the cohort were born within this 2.5-year period, representing a 13% incidence of Nijmegen breakage syndrome. Frequency of Nijmegen breakage syndrome heterozygotes among infants in the Czech Republic is 1: 130-158 and the birth rate is 90,000 per year, therefore in the time span of 2.5 years, three new Nijmegen breakage syndrome homozygotes are expected to be born. Therefore we assume that by DNA testing of Czech primary microcephalic children it is possible to detect all Nijmegen breakage syndrome patients to be expected. The age at correct diagnosis was lowered from 7.1 years at the time before DNA testing, to well under 1 year of age. All new Nijmegen breakage syndrome patients could receive appropriate preventive care, which should significantly improve their life expectancy and prognosis.
doi:10.1016/j.pediatrneurol.2003.07.003 pmid:15033202 fatcat:6guj4a3u4bfbbpoasbl42oblje

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused byde novomutation in theMORC2gene

Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Radim Mazanec, Stephan Züchner, Michael A. Gonzalez, Pavel Seeman
2016 Brain  
doi:10.1093/brain/awv411 pmid:26912637 fatcat:pljbesgh2ragbjrlr3xropuhya

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Petra Laššuthová, Lucia Baránková, Jana Haberlová, Radim Mazanec, Andrew Wallace, Kathrin Huehne, Bernd Rautenstrauss, Pavel Seeman
2009 Journal of Human Genetics  
The LMNA gene was sequenced in 98 Czech patients from 94 unrelated families with early-onset axonal Charcot-Marie-Tooth (CMT) disease consistent with both autosomal recessive inheritance and sporadic cases. Biallelic pathogenic mutations were not found in any patient in this group. One patient carried the c.1870C4T mutation that is predicted to result in the amino-acid substitution, p. Arg624Cys, on one allele, but the second causative mutation was not detected. LMNA mutation is not likely to
more » ... associated with the disease in this family. To exclude larger deletions/duplications in the LMNA gene not detectable by sequencing, 48 patients from this group were also analyzed with multiplex ligation-dependent probe amplification. No rearrangements in the LMNA gene were detected. We conclude that mutations in the LMNA gene are absent from a large group of Czech patients with axonal autosomal recessive CMT disease. Consequently, LMNA mutation screening does not seem to be relevant for axonal CMT DNA diagnostics. A similar situation may apply to other European populations.
doi:10.1038/jhg.2009.43 pmid:19424285 fatcat:34bwna5i3bd2pdbfmwlhlugnee

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Jennifer R. Taube, Karen Sperle, Linda Banser, Pavel Seeman, Barbra Charina V. Cavan, James Y. Garbern, Grace M. Hobson
2014 Human Molecular Genetics  
Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5 ′ splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutant or normal protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We investigated the ability of sequences throughout PLP1 intron 3 to regulate alternative
more » ... cing using a splicing minigene construct transfected into the oligodendrocyte cell line, Oli-neu. Our data reveal that the alternative splice of PLP1 is regulated by a long-distance interaction between two highly conserved elements that are separated by 581 bases within the 1071-base intron 3. Further, our data suggest that a base-pairing secondary structure forms between these two elements, and we demonstrate that mutations of either element designed to destabilize the secondary structure decreased the PLP1/DM20 ratio, while swap mutations designed to restore the structure brought the PLP1/DM20 ratio to near normal levels. Sequence analysis of intron 3 in families with clinical symptoms of PMD who did not have coding-region mutations revealed mutations that segregated with disease in three families. We showed that these patient mutations, which potentially destabilize the secondary structure, also reduced the PLP1/ DM20 ratio. This is the first report of patient mutations causing disease by disruption of a long-distance intronic interaction controlling alternative splicing. This finding has important implications for molecular diagnostics of PMD.
doi:10.1093/hmg/ddu271 pmid:24890387 pmcid:PMC4168831 fatcat:2pssspxxrnc2pgmc4xsgk4obd4

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region

Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gašperíková, Pavel Seeman
2021 Genes  
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent among those with hearing loss compared to normal-hearing individuals. This excess among patients led
more » ... to hypothesize that there could be another pathogenic variant in the GJB2 region/DFNB1 locus. A hitherto undiscovered variant could, in part, explain the cause of hearing loss in patients and would mean reclassifying them as patients with GJB2 biallelic pathogenic variants. In order to detect an unknown causal variant, we examined 28 patients using NGS with probes that continuously cover the 0.4 Mb in the DFNB1 region. An additional 49 patients were examined by WES to uncover only carriers. We did not reveal a second pathogenic variant in the DFNB1 region. However, in 19% of the WES-examined patients, the cause of hearing loss was found to be in genes other than the GJB2. We present evidence to show that a substantial number of patients are carriers of the GJB2 pathogenic variant, albeit only by chance.
doi:10.3390/genes12050684 pmid:34062854 pmcid:PMC8147375 fatcat:armrifq2kvbppdu7erdoaecunq

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Christine R. Beck, Claudia M. B. Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M. McCahan, Marco Henneke, Pavel Seeman, James Y. Garbern, Grace M. Hobson (+2 others)
2015 PLoS Genetics  
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific
more » ... genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product. An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. We show that a homology-or homeologydriven replicative mechanism of DNA repair can apparently mediate template switches within stretches of microhomology. Moreover, we provide evidence that quadruplication and potentially higher order amplification of a genomic interval can occur in a manner consistent with rolling circle amplification as predicted by the microhomology-mediated break induced replication (MMBIR) model. Genomic architecture, such as direct or inverted repeats, can facilitate structural variation (SV) of the human genome. SV can consist of deletion, duplication, or inversion of a genomic segment, or combinations thereof, the latter referred to as complex genomic rearrangements (CGR). CGR are defined as requiring two or more novel DNA breakpoint junctions. We described a CGR product at the MECP2 locus with an unusual pattern consisting of an inverted triplicated segment flanked by duplicated segments of the genome. This complex CGR is facilitated by inverted repeats in a process that mechanistically could occur by two template switches mediated by replicative DNA repair. We now investigate the PLP1 locus and demonstrate that 16/17 CGR independent events present with duplication-inverted triplication-duplication pattern facilitated by two inverted repeats, similar to events involving MECP2. We show that the same inverted repeats facilitating CGR formation are also responsible for an inversion polymorphism observed frequently in the normal population. Intriguingly, one CGR was found to have a quadruplication resulting in the presence of four copies of a genomic segment. Breakpoint studies suggest this quadruplication occurred in a manner consistent with rolling circle amplification as predicted by previously postulated models.
doi:10.1371/journal.pgen.1005050 pmid:25749076 pmcid:PMC4352052 fatcat:jhhzrtmm3fdklbxyro3nmon4km

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Petra Lassuthova, Dana Šišková, Jana Haberlová, Iva Sakmaryová, Aleš Filouš, Pavel Seeman
2014 Orphanet Journal of Rare Diseases  
doi:10.1186/1750-1172-9-46 pmid:24690360 pmcid:PMC3976362 fatcat:xqr5xaws7vehtjsjnmsstbk37m
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