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Zeitschriftenartikel zum Thema "HPSQ-C"
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Sandrock, Kirstin, Karin Kurnik, Stephan Ehl, Christoph Bidlingmaier, Lea Nakamura, Nina Rombach, Sophie Schäfer und Barbara Zieger. „Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations“,. Blood 118, Nr. 21 (18.11.2011): 3286. http://dx.doi.org/10.1182/blood.v118.21.3286.3286.
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Abstract Abstract 3286 Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Neutropenia and susceptibility to recurrent infections were exclusively observed in HPS2 patients so far. There are eight known human HPS genes (HPS1-HPS8), each leading to a particular clinical HPS subtype (HPS1-HPS8). Patients/Results: The patients show a typical HPS phenotype concerning oculocutaneous albinism and bleeding symptoms. In vivo-, in vitro bleeding time and platelet aggregometry analyses revealed impaired platelet function. We identified HPS3 in two Turkish brothers and HPS2 in a girl from the United Emirates. Both brothers with HPS3 demonstrated absence of platelet δ-granule secretion measured by flow cytometry analysis. A novel 1 bp-deletion in the HPS3 gene was identified in both brothers. In addition, one brother with HPS3 demonstrated psychomotoric retardation. MRI scan revealed cranial gliosis. Interestingly, array-CGH analysis revealed a 0.7 Mb deletion on chromosome 17 which had not been identified in the other brother and which seems to have caused the cranial gliosis. The girl with HPS2 suffered from life-threatening bleeding after tonsillectomy leading to severe asphyxia, resuscitation and finally, to mental retardation. Flow cytometry analysis demonstrated impaired platelet δ-granule secretion with a typical pattern for HPS2. CD63 expression was already increased on resting platelets, but there was only little increase after thrombin stimulation. Interestingly, only a NK-CD107 partial degranulation defect was diagnosed. So far, clinical symptoms of immunodeficiency are not obvious. Molecular genetic analyses revealed a novel 2 bp-deletion in the last exon of HPS2 leading to a frameshift and a prolonged altered protein. The location of the deletion at the very C-terminal end may prevent a complete loss of the HPS2 protein leading to a less pronounced severity of immunodeficiency as in other HPS2 patients. Conclusion: Patients with oculocutaneous albinism should be investigated for increased clinical bleeding symptoms. In case of increased bleeding symptoms, analyses of primary hemostasis should be initiated to confirm HPS. Using flow cytometry analyses HPS2 can be distinguished from the other subtypes of HPS. Molecular genetic investigations should be performed to differentiate the various subtypes of HPS which is important for therapy and prognosis. The HPS3 patient`s mental retardation seemed to be caused by an additional deletion. The identification of the molecular genetic defect helps to understand the patients` various clinical phenotypes. Disclosures: Zieger: Novo Nordisk: Research Funding.
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Rosenblum, Sara, und Liat Gafni-Lachter. „Handwriting Proficiency Screening Questionnaire for Children (HPSQ–C): Development, Reliability, and Validity“. American Journal of Occupational Therapy 69, Nr. 3 (08.04.2015): 6903220030p1. http://dx.doi.org/10.5014/ajot.2015.014761.
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Ciciotte, Steven L., Babette Gwynn, Kengo Moriyama, Marjan Huizing, William A. Gahl, Juan S. Bonifacino und Luanne L. Peters. „Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)“. Blood 101, Nr. 11 (01.06.2003): 4402–7. http://dx.doi.org/10.1182/blood-2003-01-0020.
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Abstract Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis affecting 3 related organelles—melanosomes, platelet dense bodies, and lysosomes. Four genes causing HPS in humans (HPS1-HPS4) are known, and at least 15 nonallelic mutations cause HPS in the mouse. Where their functions are known, the HPS-associated proteins are involved in some aspect of intracellular vesicular trafficking, that is, protein sorting and vesicle docking and fusion. Biochemical and genetic evidence indicates that the HPS-associated genes encode components of at least 3 distinct protein complexes: the adaptor complex AP-3; the HPS1/HPS4 complex; and BLOC-1 (biogenesis of lysosome-related organelles complex-1), consisting of the proteins encoded at 2 mouse HPS loci, pallid (pa) and muted (mu), and at least 3 other unidentified proteins. Here, we report the cloning of the mouse HPS mutation cappuccino (cno). We show that the wild-type cno gene encodes a novel, ubiquitously expressed cytoplasmic protein that coassembles with pallidin and the muted protein in the BLOC-1 complex. Further, we identify a frameshift mutation in mutant cno/cno mice. The C-terminal 81 amino acids are replaced with 72 different amino acids in the mutant CNO protein, and its ability to interact in BLOC-1 is abolished. We performed mutation screening of patients with HPS and failed to identify any CNO defects. Notably, although defects in components of the HPS1/HPS4 and the AP-3 complexes are associated with HPS in humans, no defects in the known components of BLOC-1 have been identified in 142 patients with HPS screened to date, suggesting that BLOC-1 function may be critical in humans.
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Wang, Zhao-Xia, Yi-Hui Liu, Yi Dong, Ya-Li Li, Tie-Yu Tang und Liang-Liang Fan. „Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome“. BioMed Research International 2021 (24.09.2021): 1–7. http://dx.doi.org/10.1155/2021/4535349.
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Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. At present, mutations in ten known genetic loci (HPS1–11) have been identified to be the genetic cause of HPS. In this study, we enrolled a consanguineous family who presented with typical HPS phenotypes, such as albinism, visual impairment, nystagmus, and bleeding diathesis. Whole-exome sequencing and Sanger sequencing were applied to explore the genetic lesions of the patient. A novel homozygous frameshift mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 was identified and cosegregated in the family members. Furthermore, real-time PCR confirmed that the mutation decreased the expression of HPS3, which has been identified as the disease-causing gene of HPS type 3. According to ACMG guidelines, the novel mutation, resulting in a premature stop codon at amino acid 442, is a pathogenic variant. In summary, we identified a novel mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 in a family with HPS. Our study expanded the variant spectrum of the HPS3 gene and contributed to genetic counseling and prenatal genetic diagnosis of the family.
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Bastida, Jose Maria, Sara Morais, Veronica Palma-Barqueros, Rocio Benito, Nuria Bermejo, Mutlu Karkucak, Maria Trapero-Marugan et al. „Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications“. Blood 132, Supplement 1 (29.11.2018): 1147. http://dx.doi.org/10.1182/blood-2018-99-112968.
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Abstract Introduction Hermansky-Pudlak syndrome (HPS) is an inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and, sometimes, serious clinical complicationssuch as immunodeficiency, granulomatous colitis, and/or pulmonary fibrosis. Heterogeneous clinical symptoms and a large number of possible genetic culprits (10 HPS genes, >120 exons) complicate an unequivocal diagnosis of HPS. This study aimed to assess the clinical and platelet phenotype in ten patients with suspected HPS, and to identify the underlying genetic defects. Methods Ten patients from six families (F1 and F3 were Spanish, F2 was Turkish and F4, F5 and F6 were Portuguese) presenting with OCA (confirmed by skin biopsy) and bleeding diathesiswere included. Bleeding was evaluated by ISTH-BAT score. Phenotyping included, in patients with fresh blood samples available, platelet aggregation and ATP release, flow cytometry (FC), 14C-serotonin uptake and whole-mount electron microscopy (EM). Patients DNA was analyzed using two different targeted panels by high throughput sequencing (HTS). Sequence variants classification was performed according to ACMP recommendations. Results Patient characteristics are summarized in table 1. In F1, that had no history of consanguinity, there were two affected sisters. Patients 1 (P1) had several episodes of gastrointestinal bleeding (GI), which was attributed to granulomatous colitis. F2 is a consanguineous Turkish family, were P3 had severe rectal bleeding, requiring colectomy combined with ileostomy surgery. Pathological examination of the colon was reported as non-granulomatous colitis. Her older sister (P4) had exhibited dyspnea and shortness according to diffuse bilateral pulmonary fibrosis (BPF) diagnosis. In F3, P5 had been referred with acute GI bleeding secondary to angiodysplasia. In the non-consanguineous F4, HPS was first confirmed in P6, who showed blonde hair, nystagmus and low visual acuity; his older sister was diagnosed with HPS later, at the age of 56 years old (P7), because her OCA was masked using dark brown hair-coloring products. In P8, born from a non-consanguineous family (F5), HPS was suspected early in life, four months of age, upon recognition of OCA, nystagmus, deep visual deficiency and exotropia with compensatory torticollis. Lastly, in the consanguineous Portuguese family (F6), the two affected children (P9 and P10) had also showed a horizontal and torsional nystagmus and reduced visual activity. P10 also suffered from epilepsy and mild development delay. In phenotyping studies, the Spanish patients (P1, P2, P5) showed impaired platelet aggregation to mild agonists and reduced platelet dense granules by FC and EM. No platelet studies could be performed in F2. In Portuguese patients (F4, F5 and F6), the ATP release studies demonstrated a dense granule deficiency (Table 1). Molecular diagnosis was achieved, as a first-line approach, by means of HTS gene panels that revealed: a) F1 (P1 & P2) a homozygous deletion c.2054delC (p.P685L fs17*) in exon 13 of the HPS4, which had been previously reported in one Asian patient who showed BPF; b) F2 (P3 & P4): anovel missense homozygousvariant c.272T>C (p.L91P) in exon 4 of the HPS4. Remarkably, the phenotype of the two Turkish sisters was different, with one having had severe GI bleeding requiring colectomy, and the other had developed BPF. C) F3 (P5): a novel heterozygous variant c.2464C>T (p.R822*) in exon 13 of the HPS3 was detected; d) F4 (P6 & P7) and F5 (P8): here a nonsense variant c.307C>T (p.Q103*) was identified in exon 5 of the DTNBP1, which was previously reported in a Portuguese patient. E) F6 (P9 & P10): these patients carried a novel five base pair duplication in the single exon of HPS6, c.60_64dup (p.L22R fs*33). Conclusions This study reports 10 new HPS patients, which demonstrates the heterogeneous nature of this syndrome and the complex phenotype-genotype correlations. The novel HTStechnology has facilitated the molecular diagnosis of HPS in these patients. Among the underlying molecular pathology, we identified a novel p.L91P variant in HPS4 that is associated with a severe clinical phenotype. Funding Gerencia Regional de Salud (GRS 1647/A/17), Fundación Séneca (19873/GERM/15), Instituto de Salud Carlos III (ISCIII, PI17/01966, PI17/01311,CB15/00055), Grupo de trabajo SETH and Instituto de Investigación Biomédica de Salamanca (IBSAL, IBY17/00006). Table Table. Disclosures No relevant conflicts of interest to declare.
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Moka, Nagabhishek, Dong Chen, Chen Han, Kevin J. O'Brien, Sara Haroutinian, Laryssa Huryn, Wendy Introne et al. „Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding“. Blood 132, Supplement 1 (29.11.2018): 1153. http://dx.doi.org/10.1182/blood-2018-99-109829.
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Abstract Qualitative disorders of platelets are often missed at clinical evaluation. Hermansky-Pudlak (HPS) syndrome is a rare genetic metabolic disorder with subtype specific clinical associations most prevalent in Puerto Rico with strong link to consanguinity. HPS is usually associated with albinism, visual impairment and a qualitative platelet dysfunction due to absence of dense granules. Ceroid accumulation can be associated with inflammatory bowel disease, pulmonary fibrosis and kidney disease. Ten variants have been described with types 1, 2 and 4 associated with severe disease whilst type 3, 5 and 6 is associated with mild disease. Little is known about types 7, 8, 9 and 10. A Caucasian adult female presented with a history of intermittent episodes of severe bleeding. She carried the diagnosis of probable von Willebrand's disease at presentation. This particular patient did not respond to cryoprecipitate infusion but bleeding stopped secondary to infusion of normal platelets, a clue to a platelet storage disorder. Hence she was re-investigated for a bleeding disorder and initial coagulation testing identified abnormal platelet aggregation and amplitude pattern to epinephrine. She was subsequently evaluated with platelet transmission electron microscopy and platelet flow cytometry at the Mayo Clinic Hematopathology. Platelet TEM showed complete absence of dense granules and a normal flow cytometry. HPS was suspected and initial genetic studies identified a variant genetic abnormality. Further studies were done at the NIH. Classical clinical features of HPS like nystagmus, and ocular albinism was not identified at initial neurological and ophthalmologic examination. But more detailed evaluation revealed subclinical oculocutaneous albinism. Genome wide SNP analysis showed regions of homozygosity including HPS 1 and HPS 6; deletions were not identified in these genes. Full length HPS1 transcript was amplified by PCR of genomic DNA. Targeted next-generation sequencing identified a novel homozygous missense variant [c.383T>C (p.V128A)] in HPS6. Reduced HPS6 mRNA levels were found in the patient's skin fibroblasts compared to cells from patients with HPS-1 and normal control cells. HPS6 protein expression in the patient's cells was also low and approximately 60% lower than that of normal cells. HPS is a rare platelet storage disorder that can often be missed. Platelet aggregation tests need to be followed up by platelet TEM and genetic testing to definitively diagnose this condition. Further work up has defined a new missense variant by SNP analysis, next generation sequencing and fibroblast culture. It is important to identify the subtype of HPS, because certain subtypes of HPS (HPS 1, 2 and 4) have clinical manifestations like progressive pulmonary fibrosis. Identification of the platelet storage disorder also helps in management of the bleeding diathesis. Disclosures No relevant conflicts of interest to declare.
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Mayer, Jutta, Thomas Huhn, Michael Habeck, Karin Denger, Klaus Hollemeyer und Alasdair M. Cook. „2,3-Dihydroxypropane-1-sulfonate degraded by Cupriavidus pinatubonensis JMP134: purification of dihydroxypropanesulfonate 3-dehydrogenase“. Microbiology 156, Nr. 5 (01.05.2010): 1556–64. http://dx.doi.org/10.1099/mic.0.037580-0.
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2,3-Dihydroxypropane-1-sulfonate (DHPS) is a widespread intermediate in plant and algal transformations of sulfoquinovose (SQ) from the plant sulfolipid sulfoquinovosyl diacylglycerol. Further, DHPS is recovered quantitatively during bacterial degradation of SQ by Klebsiella sp. strain ABR11. DHPS is also a putative precursor of sulfolactate in e.g. Ruegeria pomeroyi DSS-3. A bioinformatic approach indicated that some 28 organisms with sequenced genomes might degrade DHPS inducibly via sulfolactate, with three different desulfonative enzymes involved in its degradation in different organisms. The hypothesis for Cupriavidus pinatubonensis JMP134 (formerly Ralstonia eutropha) involved a seven-gene cluster (Reut_C6093–C6087) comprising a LacI-type transcriptional regulator, HpsR, a major facilitator superfamily uptake system, HpsU, three NAD(P)+-coupled DHPS dehydrogenases, HpsNOP, and (R)-sulfolactate sulfo-lyase (SuyAB) [EC 4.4.1.24]. HpsOP effected a DHPS-racemase activity, and HpsN oxidized (R)-DHPS to (R)-sulfolactate. The hypothesis for Roseovarius nubinhibens ISM was similar, but involved a tripartite ATP-independent transport system for DHPS, HpsKLM, and two different desulfonative enzymes, (S)-cysteate sulfo-lyase [EC 4.4.1.25] and sulfoacetaldehyde acetyltransferase (Xsc) [EC 2.3.3.15]. Representative organisms were found to grow with DHPS and release sulfate. C. pinatubonensis JMP134 was found to express at least one NAD(P)+-coupled DHPS dehydrogenase inducibly, and three different peaks of activity were separated by anion-exchange chromatography. Protein bands (SDS-PAGE) were subjected to peptide-mass fingerprinting, which identified the corresponding genes (hpsNOP). Purified HpsN converted DHPS to sulfolactate. Reverse-transcription PCR confirmed that hpsNOUP were transcribed inducibly in strain JMP134, and that hpsKLM and hpsNOP were transcribed in strain ISM. DHPS degradation is widespread and diverse, implying that DHPS is common in marine and terrestrial environments.
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Gu, Cheng Long, Ai Juan Gu, Guo Zheng Liang und Li Yuan. „Modified Phenolic Resins Based on Hyperbranched Polysiloxane with Improved Thermal Stability and Flame Retardancy“. Advanced Materials Research 430-432 (Januar 2012): 264–72. http://dx.doi.org/10.4028/www.scientific.net/amr.430-432.264.
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A novel modified phenolic (PF) resin with high performance was developed, which was prepared by hybranched phenyl polysiloxane (HPSi) synthesized by our research group with PF resin. The effect of the incorporation of HPSi into PF resin on typical performance of HPSi/PF resins were systemically discussed. Results show that the incorporation of HPSi can not only effectively promote the thermal properties, but also improve the flame retardancy. For example, in the case of the modified PF resin with 10wt% HPSi, initial decompose temperature (Tdi) of HPSi is at about 405°C, which is 18°C more than that of neat PF resin at the heating rate of 10°C/min; its char yield at 800°C increases from 68.9% to 76.2% at the heating rate of 10°C/min. What’s more, HPSi10/PF resin has the maximum LOI value, which is 14.6% more than that of neat PF resin. The novel modified PF resin with improving integrated properties exhibits great potential to be used for many cutting-edges fields.
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Tse, William T., Livana Soetedjo, Timothy Lax, Lei Wang und Patrick J. Kennedy. „Obligatory Asymmetric Cell Division Regulates Self-Renewal In Hematopoietic Progenitor/Stem Cells“. Blood 116, Nr. 21 (19.11.2010): 571. http://dx.doi.org/10.1182/blood.v116.21.571.571.
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Abstract Abstract 571 Asymmetric cell division, a proposed mechanism by which hematopoietic progenitor/stem cells (HPSC) maintain a balance between self-renewal and differentiation, has rarely been observed. Here we report the surprising finding that cultured mouse primary HPSC routinely generate pairs of daughter cells with 2 distinct phenotypes after a single round of cell division. Mouse bone marrow cells were cultured on chamber slides in the presence of stem cell factor (SCF). BrdU was added overnight to label dividing cells, and the cells were examined by immunofluorescence microscopy on day 2–4 of culture. In each BrdU+c-Kit+ divided cell doublet, c-Kit was invariably expressed in only 1 of the 2 daughter cells. In contrast, the other daughter cell was negative for c-Kit but positive for the asymmetric cell fate determinant Numb and mature myeloid markers Mac1, Gr1, M-CSFR and F4/80. Similarly, in each BrdU+Sca1+ cell doublet, 1 daughter cell was positive for the stem cell markers Sca1, c-Kit, CD150 and CD201, whereas the other cell was negative for these markers but positive for Numb and the mature myeloid markers. Analysis of 400 such doublets showed that the probability of HPSC undergoing asymmetric division was 99.5% (95% confidence interval 98–100%), indicating that asymmetric division in HPSC is in fact not rare but obligatory. In other model systems, it has been shown that activation of the atypical protein kinase C (aPKC)-Par6-Par3 cell polarity complex and realignment of the microtubule cytoskeleton precede asymmetric cell division. We asked whether similar steps are involved in the asymmetric division of HPSC. We found that c-Kit receptors, upon stimulation by SCF, rapidly capped at an apical pole next to the microtubule-organizing center, followed by redistribution to the same pole of the aPKC-Par6-Par3 complex and microtubule-stabilizing proteins APC, β-catenin, EB1 and IQGAP1. Strikingly, after cell division, the aPKC-Par6-Par3 complex and other polarity markers all partitioned only into the c-Kit+/Sca1+ daughter cell and not the mature daughter cell. The acetylated and detyrosinated forms of stabilized microtubules were also present only in the c-Kit+/Sca1+ cell, as were the Aurora A and Polo-like kinases, 2 mitotic kinases associated with asymmetric cell division. To understand how c-Kit activation triggers downstream polarization events, we studied the role of lipid rafts, cholesterol-enriched microdomains in the cell membrane that serve as organization centers of signaling complexes. These are enriched in phosphatidylinositol 4,5-bisphosphate and annexin 2, putative attachment sites for the aPKC-Par6-Par3 complex. We found that SCF stimulation led to coalescence of lipid raft components at the site of the c-Kit cap, and treatment with a wide range of inhibitors that blocked lipid raft formation abrogated polarization of the aPKC-Par6-Par3 complex and division of the c-Kit+/Sca1+ cells. Because obligatory asymmetric division in cultured HPSC would prevent a net increase in their number, we sought a way to bypass its mechanism. We tested whether inhibition of protein phosphatase 2A (PP2A), a physiological antagonist of aPKC, would enhance aPKC activity and promote self-renewal of HPSC. Treatment of cultured HPSC with okadaic acid or calyculin, 2 well-characterized PP2A inhibitors, increased the percent of c-Kit+/Sca1+ cells undergoing symmetric division from 0% to 23.3% (p<0.001). In addition, small colonies comprised of symmetrically dividing cells uniformly positive for Sca1, c-Kit, CD150 and CD201 were noted in the culture. To functionally characterize the effect of PP2A inhibition, mouse bone marrow cells were cultured in the absence or presence of PP2A inhibitors and transplanted into irradiated congenic mice in a competitive repopulation assay. At 4–8 weeks post-transplant, the donor engraftment rate increased from ∼1 in mice transplanted with untreated cells to >30% in mice transplanted with PP2A inhibitor-treated cells. This dramatic increase indicates that PP2A inhibition can effectively perturb the mechanism of asymmetric cell division and promote the self-renewal of HPSC. In summary, our data showed that obligatory asymmetric cell division works to maintain a strict balance between self-renewal and differentiation in HPSC and pharmacological manipulation of the cell polarity machinery could potentially be used to expand HPSC for clinical use. Disclosures: No relevant conflicts of interest to declare.
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Ostrovsky, Olga, Polina Baryakh, Yan Morgulis, Margarita Mayorov, Nira Bloom, Katia Beider, Avichai Shimoni, Israel Vlodavsky und Arnon Nagler. „The HPSE Gene Insulator—A Novel Regulatory Element That Affects Heparanase Expression, Stem Cell Mobilization, and the Risk of Acute Graft versus Host Disease“. Cells 10, Nr. 10 (23.09.2021): 2523. http://dx.doi.org/10.3390/cells10102523.
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The HPSE gene encodes heparanase (HPSE), a key player in cancer, inflammation, and autoimmunity. We have previously identified a strong HPSE gene enhancer involved in self-regulation of heparanase by negative feedback exerted in a functional rs4693608 single-nucleotide polymorphism (SNP) dependent manner. In the present study, we analyzed the HPSE gene insulator region, located in intron 9 and containing rs4426765, rs28649799, and rs4364254 SNPs. Our results indicate that this region exhibits HPSE regulatory activity. SNP substitutions lead to modulation of a unique DNA-protein complex that affects insulator activity. Analysis of interactions between enhancer and insulator SNPs revealed that rs4693608 has a major effect on HPSE expression and the risk of post-transplantation acute graft versus host disease (GVHD). The C alleles of insulator SNPs rs4364254 and rs4426765 modify the activity of the HPSE enhancer, resulting in altered HPSE expression and increased risk of acute GVHD. Moreover, rs4426765 correlated with HPSE expression in activated mononuclear cells, as well as with CD3 levels and lymphocyte counts following G-CSF mobilization. rs4363084 and rs28649799 were found to be associated with CD34+ levels. Our study provides new insight into the mechanism of HPSE gene regulation and its impact on normal and pathological processes in the hematopoietic system.
Dissertationen zum Thema "HPSQ-C"
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Gavenčiak, Michal. „Výzkum nových parametrů online písma u dětí s grafomotorickými obtížemi“. Master's thesis, Vysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií, 2021. http://www.nusl.cz/ntk/nusl-442574.
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In the Czech Republic, there is currently no objective method to diagnose graphomotor difficulties in children. Ongoing research uses modern digitizers to capture the hand-writing process and quantify its parameters. The first goal of this thesis is to develop software tools to faciliate work with the collected data, such as database validation and writing exercise rating, done by specialists. Another goal of this thesis is to design new on-line handwriting parameters which are then to be analysed on a cohort of school children from 2nd to 4th class of primary school (n=239). The implementation of two desktop programs on the .NET platform is described, among three new quantifying parameters based on the principles of isochrony, two-dimensional cross-correlation, and geometrical centroid. All three parameters show significant correlation (r = [0,2; 0,3])with the HPSQ-C rating in 2nd- and 4th-graders and correlation (𝜌= [0,2; 0,5]) with specialist’s subjective scores in all children from the cohort. The analysis suggests children with graphomotor difficulties struggle with regulating handwriting speed and working memory.
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Di, Domenico Daniel. „HPSM: uma API em linguagem c++ para programas com laços paralelos com suporte a multi-CPUs e Multi-GPUs“. Universidade Federal de Santa Maria, 2016. http://repositorio.ufsm.br/handle/1/12171.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPESParallel architectures has been ubiquitous for some time now. However, the word ubiquitous can’t be applied to parallel programs, because there is a greater complexity to code them comparing to ordinary programs. This fact is aggravated when the programming also involves accelerators, like GPUs, which demand the use of tools with scpecific resources. Considering this setting, there are programming models that make easier the codification of parallel applications to explore accelerators, nevertheless, we don’t know APIs that allow implementing programs with parallel loops that can be processed simultaneously by multiple CPUs and multiple GPUs. This works presents a high-level C++ API called HPSM aiming to make easier and more efficient the codification of parallel programs intended to explore multi-CPU and multi-GPU architectures. Following this idea, the desire is to improve performance through the sum of resources. HPSM uses parallel loops and reductions implemented by three parallel back-ends, being Serial, OpenMP and StarPU. Our hypothesis estimates that scientific applications can explore heterogeneous processing in multi-CPU and multi-GPU to achieve a better performance than exploring just accelerators. Comparisons with other parallel programming interfaces demonstrated that HPSM can reduce a multi-CPU and multi-GPU code in more than 50%. The use of the new API can introduce impact to program performance, where experiments showed a variable overhead for each application, that can achieve a maximum value of 16,4%. The experimental results confirmed the hypothesis, because the N-Body, Hotspot e CFD applications achieved gains using just CPUs and just GPUs, as well as overcame the performance achieved by just accelerators (GPUs) through the combination of multi-CPU and multi-GPU.
Arquiteturas paralelas são consideradas ubíquas atualmente. No entanto, o mesmo termo não pode ser aplicado aos programas paralelos, pois existe uma complexidade maior para codificálos em relação aos programas convencionais. Este fato é agravado quando a programação envolve também aceleradores, como GPUs, que demandam o uso de ferramentas com recursos muito específicos. Neste cenário, apesar de existirem modelos de programação que facilitam a codificação de aplicações paralelas para explorar aceleradores, desconhece-se a existência de APIs que permitam a construção de programas com laços paralelos que possam ser processados simultaneamente em múltiplas CPUs e múltiplas GPUs. Este trabalho apresenta uma API C++ de alto nível, denominada HPSM, visando facilitar e tornar mais eficiente a codificação de programas paralelos voltados a explorar arquiteturas com multi-CPU e multi-GPU. Seguindo esta ideia, deseja-se ganhar desempenho através da soma dos recursos. A HPSM é baseada em laços e reduções paralelas implementadas por meio de três diferentes back-ends paralelos, sendo Serial, OpenMP e StarPU. A hipótese deste estudo é que aplicações científicas podem valer-se do processamento heterogêneo em multi-CPU e multi-GPU para alcançar um desempenho superior em relação ao uso de apenas aceleradores. Comparações com outras interfaces de programação paralela demonstraram que o uso da HPSM pode reduzir em mais de 50% o tamanho de um programa multi-CPU e multi-GPU. O uso da nova API pode trazer impacto no desempenho do programa, sendo que experimentos demonstraram que seu sobrecusto é variável de acordo com a aplicação, chegando até 16,4%. Os resultados experimentais confirmaram a hipótese, pois as aplicações N-Body, Hotspot e CFD, além de alcançarem ganhos ao utilizar somente CPUs e somente GPUs, também superaram o desempenho obtido por somente aceleradores (GPUs) através da combinação de multi-CPU e multi-GPU.
Konferenzberichte zum Thema "HPSQ-C"
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Youren, Xu, Huang Liping, Fu Xiren und Yen Tungsheng. „Hot-Pressed Silicon Nitride Ceramics With Rare-Earth Oxides Additives“. In ASME 1985 Beijing International Gas Turbine Symposium and Exposition. American Society of Mechanical Engineers, 1985. http://dx.doi.org/10.1115/85-igt-92.
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A hot-pressed silicon nitride ceramic material with rare-earth oxides additive has been processed, its bend strength maintains 800–900 MPa up to 1300°C and measures 680 MPa at 1400°C, its fracture toughness at room temperature is 4.38–4.96 MPam. X-ray, SEM, EDS and electron probe analyses reveal that the microstructure of this material is composed of fine β-Si3N4 grains, α-Si3N4 whiskers, small tetragonal lanthanide crystals and La-containing glassy phase. Observation on fracture surface shows that the fracture path is mainly transcrystalline up to 1400°C. The effects of additives on strength and fracture toughness of HPSN obtained are also discussed.
2
Rendu, F., T. Hovig, P. Marche, M. Lebret, D. Tenza, J. Maclouf, J. P. Caen und S. Levy-Toledano. „MEMBRANE SIGNAL TRANSDUCTION IN PLATELETS WITH ALTERED RELEASE REACTION“. In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644746.
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The process of signal transduction during thrombin-induced activation was studied in pathological platelets characterized by a defect in a specific storage granule, i.e. from Hermansky-Pudlak syndrome (HPS) and from Grey-Platelet Syndrome (GPS). HPS platelets exhibited an apparently normal ultrastructure except for a decreased number of dense bodies. Grey platelets showed marked vacuolization and an almost total absence of alpha-granules. During thrombin stimulation both types of platelets showed the same tendency of centralization of the organelles present indicating that neither type of granule is a prerequisite for this ring-like structure.However this granule centralization was clearly delayed in GPS where it occurred 15 sec after thrombin addition instead of 5 sec in normal platelets. The transducing system involving phosphoinositides specific phospholipase C was observed in platelets lacking dense bodies (HPS) but the phosphatidyl 4,5 bisphosphate(PIP2 )breakdown in 32P-prelabelled platelets was measurable at 202 sec instead of 10 sec in normal platelets. No ch activity was detectable at any time in grey platelets. 32P-phosphatidate (PA) formation was subnormal in HPS platelets and normal in grey platelets. Phosphorylation pattern of myosin light chain (P20) and of 43K protein (P43) were normal in HPS platelets and markedly reduced in grey platelets, being less than half of the normal during the first 15 sec and remaining subnormal even after complete aggregation. The release of constituents from the present granules and the thromboxane formation were lower than in normal platelets in all cases. In conclusions, (i) alpha-granules but not dense bodies may play a key role in the activation of the PIP2 specific phospholipase C,(ii) PA formation does not always correlate with phosphoinositide metabolism and could originate from another pool of diacylglycerol,(iii) complete phosphorylations of both P20 and P43 may not be sufficient to stimulate a normal release, and (iv) end products such as thromboxanes and released ADP accelerate and reinforce platelet responses.
3
Stute, M., H. Burger, M. Griguscheit, E. Holder, K. D. Mörgenthaler, F. Neubrand und M. Radloff. „Testing of Ceramic Components in the Daimler-Benz Research Gas Turbine PWT 110“. In ASME 1990 International Gas Turbine and Aeroengine Congress and Exposition. American Society of Mechanical Engineers, 1990. http://dx.doi.org/10.1115/90-gt-097.
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The Daimler-Benz “Car 2000” research project included a two-shaft gas turbine which was used at speeds of up to 61,500 rpm and at temperatures of up to 1,250 °C (1st phase). Several ceramic components were pre-tested and used in the turbine engine both on the test bench and in the vehicle. The turbine engine has now reached a cumulative operating time of 600 hours; this includes 20,000 km on the road. Tested were HPSN components and other ceramic components which were manufactured in processes suitable for volume production. Some components have been tested on component test benches at temperatures of up to 1,350 °C. In the vehicle, temperatures of up to 1,350 °C were briefly encountered during acceleration.
4
Otsubo, F., H. Era, K. Kishitake und H. Matsumoto. „High Corrosion Resistant Iron-Based Amorphous Coatings Obtained by Thermal Spraying“. In ITSC 1998, herausgegeben von Christian Coddet. ASM International, 1998. http://dx.doi.org/10.31399/asm.cp.itsc1998p0659.
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Abstract Fe-Cr(-Mo) alloy coatings were thermal sprayed by different processes of LPPS, HVOF and HPS. The as-sprayed coating by LPPS is perfectly amorphous and coatings by other processes contain partly crystalline phases. The amorphous phases crystallize at 773 K or more and shows a high hardness of about 1000 to 1400 DPN just after crystallization. The anodic polarization curves of the coatings shift from active to passive state in 1N H2SO4 and 1N HCl solutions. The coatings obtained by LPPS indicate the lowest active and passive current densities and possess the best corrosion resistance. The corrosion resistance of the coatings obtained by other processes are better than a SUS316L stainless steel coating. The LPPS coating of Fe-Cr-C-P alloy is not attacked on immersion test in 6% FeCl3·6H2O solution containing 0.05N HCl at the corrosion potential, while large pit corrosion is developed in a SUS316L stainless steel sheet.
5
Fang, Zhi, Zhigang Li, Jun Li und Zhenping Feng. „Static and Rotordynamic Characteristics for Two Novel Hole-Pattern Annular Liquid Seals With Circumferentially- /Axially- Oblique Hole Cavities“. In ASME Turbo Expo 2021: Turbomachinery Technical Conference and Exposition. American Society of Mechanical Engineers, 2021. http://dx.doi.org/10.1115/gt2021-58996.
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Abstract Non-contacting annular damper seals, such as hole-pattern seals are gradually used in the multiple-stage centrifugal pumps, as a replacement of the conventional labyrinth seal to reduce the fluid leakage and stabilize the rotor-bearing system.The hole-pattern seal (HPS) possesses numerous radial hole cavities on the seal stator, and the geometric constructions of the hole cavity (such as the hole depth and diameter) have been demonstrated to have significant influences on the leakage and rotordynamic characteristic for hole-pattern seals. Due to the inevitable manufacturing variability, particulate impurity deposition and abrasion during operation, these hole cavities can be non-radial, which may affect the performance of the hole-pattern seal. However, the effects of the non-radical hole cavities on the performance of the hole-pattern seal are still unknown due to the lack of numerical or experimental research. Thus, in this paper, two types of novel hole-pattern seals possessing circumferentially- or axially-oblique hole cavities (C-HPS, A-HPS) with various oblique angles were designed and assessed to better understand the influences of the non-radial hole cavities. To assess the leakage and rotordynamic characteristics of the novel liquid hole-pattern seals, a proposed 3D transient CFD-based perturbation method was utilized for the predictions of seal rotordynamic forces coefficients, based on the multi-frequency one-dimensional rotor whirling model and mesh deformation technique. The accuracy and reliability of the present steady and transient numerical methods were demonstrated based on published experimental data of leakage and rotordynamic force coefficients for an experimental hole-pattern seal with radial hole cavities. The leakage and rotordynamic force coefficients were presented for the novel hole-pattern seals with various circumferentially-oblique angle (α = −30°∼30°) or axially-oblique angle (β = −30°∼30°) at various rotational speeds (n = 0.05, 2.0, 4.0, 6.0 krpm), and compared with the ideal hole-pattern seal with radial hole cavities. Numerical results show that the non-radial hole cavity can result in a modest deviation (∼10%) from the design value for the seal leakage, and the oblique direction is crucial for the sealing performance. The flow field in hole cavities and the pressure distribution in the seal clearance suggest that the oblique hole cavities with positive α or β can strengthen the vortex-dissipation of kinetic energy in the hole cavities, thus reduce the leakage (about 5% ∼ 10%). The non-radial cavity with a positive oblique angle results in a modest increase (∼15% for the circumferentially-oblique angle α = 30°, ∼ 6% for the axially-oblique angle β = 30°) in the effective stiffness of the hole-pattern seal, but shows very weak influence (< 4.0%) on the effective damping of the hole-pattern seals, especially for the circumferentially-oblique hole. Therefore, in view of the inevitable manufacturing variability and abrasion effects, a designed non-radial hole with suitable positive α or β (10°∼20°) is beneficial to be applied to new designs in early design phases for the robust design of hole-pattern seals.
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VAŠTAKAITĖ, Viktorija, Akvilė VIRŠILĖ, Aušra BRAZAITYTĖ,, Giedrė SAMUOLIENĖ, Julė JANKAUSKIENĖ, Ramūnas SIRTAUTAS und Pavelas DUCHOVSKIS. „THE EFFECT OF UV-A SUPPLEMENTAL LIGHTING ON ANTIOXIDANT PROPERTIES OF OCIMUM BASILICUM L. MICROGREENS IN GREENHOUSE“. In Rural Development 2015. Aleksandras Stulginskis University, 2015. http://dx.doi.org/10.15544/rd.2015.031.
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The effects of supplemental UV-A LED lighting on growth and antioxidant properties of two varieties of basil (Ocimum basilicum L.) microgreens were determined. Purple-leaf ‘Dark Opal’ and green-leaf ‘Sweet Genovese’ basils were grown in greenhouse (14 days, 22/18 ± 2 °C day/night temperature, 40 ± 5 % a relative air humidity) during winter season. The main lighting system (HPS lamps and natural daylight) was supplemented with ~13.0 μmol m-2 s-1 flux of UV-A 390 nm, and a total PPFD was ~125 μmol m-2 s-1 (16 h photoperiod) for 1 or 7 days before harvest, or entire growth period – 14 days. The results revealed that the influence of UV-A on growth and antioxidant properties depended on basil variety and duration of irradiation. Generally, UV-A irradiation for 7 days significantly (P ≤ 0.05) inhibited growth and hypocotyl elongation of green-leaf basils, and for 14 days of both basil varieties. No significant differences on leaf chlorophyll index were determined. However, leaf flavonol index significantly increased in green-leaf basils after 7 and 14 days UV-A irradiation. The total phenols ant anthocyanin contents significantly decreased after 1 day UV-A irradiation in purple-leaf basils, and the continuous decrease following UV-A irradiation for 7 or 14 days was determined. In addition, UV-A irradiation had negative effects on ABTS radical activity in purple-leaf basils; however, the significantly higher ABTS radical scavenging activity after UV-A irradiation for 1 or 7 days in green-leaf basils were determined. UV-A influenced higher ascorbic acid synthesis in purple-leaf basils after 7 days irradiation, or after 14 days irradiation in both basil varieties. In summary, the supplemental UV-A LED lighting allows to protect basil microgreens from hypocotyl elongation, and enhances antioxidant properties in green-leaf basils. Purple-leaf basils showed to be more sensitive to UV-A irradiation, and less positive effects on antioxidant properties were determined.