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Duffková, R. "Evaluation of management-dependent changes in the water regime of extensive grasslands." Soil and Water Research 3, No. 1 (March 21, 2008): 1–11. http://dx.doi.org/10.17221/2094-swr.
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The origin of the differences in the water regime components of 0–0.6 m soil profile was identified in extensively managed permanent grasslands (PG, variants: once cut – 1C, twice cut – 2C, nocut – NC, mulched June – MVI, mulched July – MVII) using the method of the soil water balance (drainage lysimeters). The differences in the water regime of the experimental variants manifested themselves depending on adequate soil water storage in the period when the amounts of transpiring biomass in individual variants differed markedly: (i) at the beginning of the vegetation period, when the surface litter in the NC and 1C variants reduced the actual evapotranspiration (ETA), (ii) at the time of mowing and mulching (M), when these treatments (mainly M) increased the soil water supply by ca 10–20 mm per month and decreased the ETA values by 1–2.5 mm per day for about 2–4 weeks as compared to non-mown variants on the given date, and (iii) as a result of the presence of different agrobotanical groups with distinct transpiration intensity (leguminous plants with a higher transpiration intensity in the 2C variant compared to grasses). The post-M reduction in evaporation was compensated by a higher total transpiration resulting from an increase in the aboveground phytomass. The lowest water consumption with the highest supply to the groundwater resources was recorded in the NC and 1C variants. The 2C variant containing leguminous plants with high water requirements had the highest consumption of water for evaporation and the lowest amount of water runoff from the soil profile. The identification of the water regime differences in individual variants helped determine the appropriate PG management with the aim to increase the underground water levels in the protection zones of water resources. The 1C variant of management is recommended mainly in the source areas of groundwater with lower productivity soils. In the accumulation areas of water resources (floodplain areas) with a deep soil profile and highly productive grassland, the 2C variant is required; mulching, which would largely support the yielding capacity of grassland, should be avoided. Mulching may occasionally be used as a relatively suitable method for the sites with a low yielding capacity in the source area.
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Chiang, Jianbang, Tze Hao Chia, Jeanette Yuen, Tarryn Shaw, Shao-Tzu Li, Nur Diana Binte Ishak, Ee Ling Chew, Siao Ting Chong, Sock Hoai Chan, and Joanne Ngeow. "Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care." JCO Precision Oncology, no. 5 (March 2021): 577–84. http://dx.doi.org/10.1200/po.20.00399.
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PURPOSE Genetic testing has clinical utility in the management of patients with hereditary cancer syndromes. However, the increased likelihood of encountering a variant of uncertain significance in individuals of non-European descent such as Asians may be challenging to both clinicians and patients. This study aims to evaluate the impact of variant reclassification in an Asian country with variants of uncertain significance reported in cancer predisposition genes. METHODS A retrospective analysis of patients seen at the Cancer Genetics Service at the National Cancer Centre Singapore between February 2014 and March 2020 was conducted. The frequency, direction, and time to variant reclassification were evaluated by comparing the reclassified report against the original report. RESULTS A total of 1,412 variants of uncertain significance were reported in 49.9% (845 of 1,695) of patients. Over 6 years, 6.7% (94 of 1,412) of variants were reclassified. Most variants of uncertain significance (94.1%, 80 of 85) were downgraded to benign or likely benign variant, with a smaller proportion of variants of uncertain significance (5.9%, 5 of 85) upgraded to pathogenic or likely pathogenic variant. Actionable variants of uncertain significance upgrades and pathogenic or likely pathogenic variant downgrades, which resulted in management changes, happened in 31.0% (39 of 126) of patients. The median and mean time taken for reclassification were 1 and 1.62 year(s), respectively. CONCLUSION We propose a clinical guideline to standardize management of patients reported to have variants of uncertain significance. Management should be based on the patient’s personal history, family history, and variant interpretation. For clinically relevant or suspicious variants of uncertain significance, follow-up is recommended every 2 years, as actionable reclassifications may happen during this period.
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Chiang, Jianbang, Tze Hao Chia, Sock Hoai Chan, and Joanne YY Ngeow. "Variant reclassification and its impact on clinical care in an Asian cancer center." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): 10583. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10583.
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10583 Background: Genetic testing has demonstrated clinical utility in the identification and subsequent surveillance of patients with cancer predisposition syndromes. However, the increased likelihood of encountering a variant of uncertain significance (VUS) in individuals of non-European descent such as Asians may be challenging to both clinicians and patients in interpretation and management. VUS can be reclassified as more data becomes available. VUS reclassification is important, as it may have implications for surveillance and treatment. This study aims to evaluate the prevalence and patterns of variant reclassification in an Asian country and its impact on patient management. Methods: A prospective cohort of patients seen at the Cancer Genetics Service at the National Cancer Center Singapore between February 2014 to March 2020 was evaluated. The frequency, direction and time to variant reclassification was assessed by comparing the reclassified report against the original report. Results: A total of 1412 VUS were reported in 49.9% (845/1695) of patients. Over six-years, 6.7% (94/1412) of variants were reclassified. Most VUS (94.1%; 80/85) were downgraded to benign/likely benign variant, with a smaller proportion of VUS (5.9%; 5/85) upgraded to pathogenic/likely pathogenic variant. Actionable VUS upgrades and pathogenic/likely pathogenic variant downgrades, that resulted in management changes, happened in 31.0% (39/126) of patients. The median and mean time taken for reclassification were 1 and 1.62 year(s) respectively. Conclusions: Clinicians need to put in place a system for review of variants, as variant reclassification can lead to changes in management in nearly 1/3 of patients. Management should be based on the patient’s personal history, family history and variant interpretation. We propose a clinical guideline to standardize management of patients with VUS. For clinically relevant or suspicious VUS, follow-up is recommended every two years, as actionable reclassifications may happen during this period.
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Syamlan, Yaser Taufik, Sakinah Sakinah, Mursalmina Mursalmina, and Asfa Asfiah. "Term - Deposit Waqf Linked Isthisna (TDWLI): Proposed Models, Accounting Aspects, and Risk Management Analysis." Economica: Jurnal Ekonomi Islam 11, no. 1 (July 1, 2020): 79–105. http://dx.doi.org/10.21580/economica.2020.11.1.4410.
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Abstract: Islamic banking (further referred to as the Bank) faces two significant problems: excessive concentration in Murabaha financing contracts and high cost of funds. These two classic problems directly impact the development of the Bank and give rise to the stigma of a less innovative and unprofitable industry. This research aims to make a new product breakthrough that can help stakeholders overcome the two problems above. Term Deposit Waqf Linked Isthisna (TDWLI) has 4 variants: TDWLI Perpetual Principal, TDWLI Perpetual Principal + Profit Sharing, TDWLI Periodic Principal, TDWLI Periodic Principal, and + Profit Sharing. The TDWLI Periodic Principal is the variant that is most ready to be applied because, in accounting terms, it has been regulated in PSAK 112. In general, this TDWLI product will provide several advantages for banks to reduce the cost of funds (especially in the main variant of Waqf only). It will increase Isthisna financing, referring to OJK data in 2019, only 0.3% of total financing. In terms of accounting treatment, PSAK 112 must be adjusted especially if the Bank will release a Perpetual-based product variant. The main problem with perpetual-based products is the uncommon features. In perpetual, cash waqf cannot be withdrawn or, in other words, eternal. This research recommends that OJK is expected to study this product more deeply to develop healthy and innovative Islamic banking.Abstrak: Perbankan syariah (selanjutnya disebut Bank) saat ini sedang menghadapi 2 masalah besar yaitu konsentrasi berlebihan di akad pembiayaan Murabaha serta tingginya Cost of Fund. Kedua masalah klasik ini berdampak langsung kepada perkembangan Bank dan memunculkan stigma industry yang kurang inovatif dan tidak menguntungkan. Penelitian ini bertujuan untuk membuat terobosan produk baru yang dapat membantu stakeholders dalam mengatasi kedua masalah diatas. Produk Deposito Waqf Linked Isthisna (DWLI) dengan 4 varian nya baik itu DWLI Perpetual Pokok, DWLI Perpetual Pokok + Bagi Hasil, DWLI Periodic Pokok dan DWLI Periodic Pokok + Bagi Hasil. DWLI Periodic Pokok menjadi varian yang paling siap untuk diaplikasikan karena secara akuntansi sudah diatur dalam PSAK 112. Secara umum produk DWLI ini akan memberikan beberapa keuntungan bagi bank dalam rangka menurunkan cost of fund (terutama pada varian Wakaf pokok saja) serta akan menaikkan pembiayaan Isthisna yang merujuk kepada data OJK tahun 2019 hanya 0,3% dari total pembiayaan. Secara perlakuan akuntansi, PSAK 112 harus disesuaikan terutama apabila Bank akan merelaisasikan varian produk berbasis Perpetual. Permasalahan utama dari produk berbasis perpetual adalah ketidak umuman fitur dimana dalam perpetual, Wakaf uang tidak dapat ditarik atau dengan kata lain abadi. Rekomendasi dari penelitian ini adalah OJK diharapkan dapat mengkaji produk ini lebih dalam demi perkembangan perbank syariah yang sehat dan inovatif.Islamic banking (further referred to as the Bank) faces two significant problems: excessive concentration in Murabaha financing contracts and high cost of funds. These two classic problems directly impact the development of the Bank and give rise to the stigma of a less innovative and unprofitable industry. This research aims to make a new product breakthrough that can help stakeholders overcome the two problems above. Term Deposit Waqf Linked Isthisna (TDWLI) has 4 variants: TDWLI Perpetual Principal, TDWLI Perpetual Principal + Profit Sharing, TDWLI Periodic Principal, TDWLI Periodic Principal, and + Profit Sharing. The TDWLI Periodic Principal is the variant that is most ready to be applied because, in accounting terms, it has been regulated in PSAK 112. In general, this TDWLI product will provide several advantages for banks to reduce the cost of funds (especially in the main variant of Waqf only). It will increase Isthisna financing, referring to OJK data in 2019, only 0.3% of total financing. In terms of accounting treatment, PSAK 112 must be adjusted especially if the Bank will release a Perpetual-based product variant. The main problem with perpetual-based products is the uncommon features. In perpetual, cash waqf cannot be withdrawn or, in other words, eternal. This research recommends that OJK is expected to study this product more deeply to develop healthy and innovative Islamic banking
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Trinh, Giang, John Dawes, and Larry Lockshin. "Do product variants appeal to different segments of buyers within a category?" Journal of Product & Brand Management 18, no. 2 (April 17, 2009): 95–105. http://dx.doi.org/10.1108/10610420910948997.
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PurposeThis study responds to the call of Fader and Hardie for more research on buyer behaviour toward stock keeping units (SKU). This paper aims to examine whether different SKU‐based product variants appeal to buyers with different demographic characteristics.Design/methodology/approachThis study examines the product variants (such as size, formulation, type) of a range of brands in six consumer goods categories. The authors calculate and compare the market share of each variant within each demographic group. If a variant has a higher market share within a specific demographic group than the overall average, this indicates segmentation at the product variant level.FindingsThe findings show that there are many differences in the market shares of product variants among different demographic groups of buyers. The largest differences are found extensively within the age and employment status variables.Originality/valueFunctionally different product variants tend to draw different demographic‐based segments of buyers, which has not been previously shown.
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Robak, Tadeusz. "Management of hairy cell leukemia variant." Leukemia & Lymphoma 52, sup2 (May 23, 2011): 53–56. http://dx.doi.org/10.3109/10428194.2011.566392.
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Procházková, B., J. Málek, and J. Dovrtěl. "Effect of different straw management practices on yields of continuous spring barely." Plant, Soil and Environment 48, No. 1 (December 11, 2011): 27–32. http://dx.doi.org/10.17221/4204-pse.
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Field experiments were conducted in the maize-growing region on heavy gleic fluvisol from 1974 to 2000. Three variants of straw management (straw harvested, incorporated into soil and burned), two variants of soil tillage (conventional plough tillage to 0.22 m, shallow disc tillage to 0.12–0.15 m) and three variants of fertilization (30, 60 and 90 kg N.ha<sup>–1</sup>) were studied. After conventional tillage, the highest yield was obtained in the variant with burned straw (5.50 t.ha<sup>–1</sup>), followed by the variant with straw incorporated into soil (5.40 t.ha<sup>–1</sup>) and the lowest after harvested straw (5.01 t.ha<sup>–1</sup>). At shallow tillage, lower yields were assessed in all variants of straw management in comparison with conventional tillage (after straw burning 5.07 t.ha<sup>–1</sup>, incorporation into soil 4.66 t.ha<sup>–1</sup> and harvest 4.54 t.ha<sup>–1</sup>). The ranking of variants was identical to that in inversion tillage; however, the yield increased more after straw burning in comparison with its incorporation into soil. Yields increased regularly along with increasing rates of nitrogen. If long-term effects of straw incorporation on yields and yield trends were evaluated (in comparison with straw harvest), statistically significant decrease in yields was assessed after shallow in contrast with increase in yields after deeper straw incorporation.
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Kováč, Ladislav, Jana Jakubová, and Danica Šariková. "Effect of Tillage System and Soil Conditioner Application on Soybean (Glycine Max (L.) Merrill.) and Its Crop Management Economic Indicators." Agriculture (Pol'nohospodárstvo) 60, no. 2 (July 29, 2014): 60–69. http://dx.doi.org/10.2478/agri-2014-0007.
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Abstract Experiments with soybean on heavy soils of East Slovak Lowlands were established in the years 2010–2012. The effect of mineral fertilisers and soil conditioner application on soybean’s yield using three tillage systems (minimum tillage (MT), conventional tillage (CT) and no tillage (NT)) was studied. Production costs and economic efficiency of crop management practices were evaluated. The influence of production year on soybean crop was significant in the order of 2011, 2010 and 2012. Statistical evaluation confirmed that the effects of CT and MT systems were more significant compared with NT system. No significant differences were found between the variants of the mineral fertiliser and conditioner application. Differences in the total cost of soybean cultivation, as measured between years, were not significant. Fertilisation variants with application of HUMAC agro and NPK generated the highest costs. On the other hand, the lowest costs were achieved at fertilisation variants with application of NPK alone. Comparing tillage variants, the CT system had the highest costs each year. Significant savings were achieved on MT and NT variants. During the experimental period, a profit was reached on all variants. Applying NPK alone, the highest profit was achieved in 2010 and 2012 using MT system and in 2011 with CT tillage. The variant b2 with PRP sol in the years 2010 and 2011 was the most profitable using NT system and in 2012 using MT. Variant with HUMAC agro was the most profitable in each year using MT. The lowest income threshold for zero profitability was calculated in 2012. Using CT farming techniques at NPK fertilisation variant b1 in 2012, the income threshold was 1.85 t/ha, at variant b2 PRP sol it was 2.10 t/ha and at variant b3 HUMAC agro it was 2.42 t/ha. At MT and NT systems, the income threshold values for zero profitability were lower.
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Remešová, Ivana. "Effect of various tillage operations and straw management on the occurence of weeds." Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis 53, no. 5 (2005): 133–42. http://dx.doi.org/10.11118/actaun200553050133.
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The weed infestation was assessed in a field experiment at the Research Institute for Folder Crops Ltd., Troubsko near Brno in 2001−2004. Numbers of individual weed species were determined using a counting method on the area of 0.25 m2 in winter wheat stands within the 6-crop rotation (peas, winter wheat, spring barley, oilseed rape, winter wheat, winter wheat) in different variants of soil tillage and straw management. The highest weed infestation in all variants was found when winter wheat followed winter wheat. The highest number of weeds was assessed in the variant with stubble tillage to the depth of 0.12−0.15 m, planting with a precision drill and straw chopping. The lowest number of weeds was found in winter wheat after peas in the variant with incorporation of chopped straw using a tiller to 0.12−0.15 m and planting with a drilling combination, and in the variant where chopped straw was sprayed with the BETA-LIQ preparation, incorporation with a tiller to 0.12−0.15 m and planting with a drilling combination.
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Castellano, Sara, Federica Cestari, Giovanni Faglioni, Elena Tenedini, Marco Marino, Lucia Artuso, Rossella Manfredini, Mario Luppi, Tommaso Trenti, and Enrico Tagliafico. "iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification." Genes 12, no. 3 (March 8, 2021): 384. http://dx.doi.org/10.3390/genes12030384.
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The rapid evolution of Next Generation Sequencing in clinical settings, and the resulting challenge of variant reinterpretation given the constantly updated information, require robust data management systems and organized approaches. In this paper, we present iVar: a freely available and highly customizable tool with a user-friendly web interface. It represents a platform for the unified management of variants identified by different sequencing technologies. iVar accepts variant call format (VCF) files and text annotation files and elaborates them, optimizing data organization and avoiding redundancies. Updated annotations can be periodically re-uploaded and associated with variants as historically tracked attributes, i.e., modifications can be recorded whenever an updated value is imported, thus keeping track of all changes. Data can be visualized through variant-centered and sample-centered interfaces. A customizable search function can be exploited to periodically check if pathogenicity-related data of a variant has changed over time. Patient recontacting ensuing from variant reinterpretation is made easier by iVar through the effective identification of all patients present in the database carrying a specific variant. We tested iVar by uploading 4171 VCF files and 1463 annotation files, obtaining a database of 4166 samples and 22,569 unique variants. iVar has proven to be a useful tool with good performance in terms of collecting and managing data from a medium-throughput laboratory.
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Deuringer, Stefan, Jan Eilers, Raphael Gerdes, Lukas Hermanns, and Rainer Müller. "Variantenmanagement in Entwicklung und Produktion/Variant management in engineering and production." wt Werkstattstechnik online 111, no. 07-08 (2021): 570–77. http://dx.doi.org/10.37544/1436-4980-2021-07-08-102.
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Aufgrund der zunehmend individualisierten Nachfrage bieten Hersteller ihren Kunden die Möglichkeit Produkte zu konfigurieren. Daraus ergibt sich eine hohe Variantenvielfalt, die oft nur mit komplexen Prozessen abbildbar ist. Um die Wirtschaftlichkeit sicherzustellen, muss der Umgang mit Produkt- und Produktionsvielfalt optimiert werden. In diesem Ansatz werden ein Datenmodell und softwarebasierte Werkzeuge zur ganzheitlichen Planung und Kontrolle von Zielen und deren Umsetzung im Variantenmanagement entwickelt. Dadurch wird die vorhandene Variantenvielfalt transparent und die Durchführung von Maßnahmen zur Variantenreduktion möglich. Due to increasingly individualized demand, manufacturers provide customers with the option to configure products. Often, this results in a high number of variants that only can be managed with complex processes. To ensure economic efficiency it is necessary to optimize the handling of product and production variety. This approach develops a data model together with software-based tools to allow for the holistic planning and controlling of goals and their implementation in variant management. This makes the existing variant diversity visible and enables the implementation of measures to reduce variants.
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Esterling, Lisa, Ranjula Wijayatunge, Krystal Brown, Brian Morris, Elisha Hughes, Dmitry Pruss, Susan Manley, Karla R. Bowles, and Theodora S. Ross. "Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period." JCO Precision Oncology, no. 4 (September 2020): 944–54. http://dx.doi.org/10.1200/po.20.00020.
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PURPOSE Hereditary cancer genetic testing can inform personalized medical management for individuals at increased cancer risk. However, many variants in cancer predisposition genes are individually rare, and traditional tools may be insufficient to evaluate pathogenicity. This analysis presents data on variant classification and reclassification over a 20-year period. PATIENTS AND METHODS This is a retrospective analysis of > 1.9 million individuals who received hereditary cancer genetic testing from a single clinical laboratory (March 1997 to December 2017). Variant classification included review of evidence from traditional tools (eg, population frequency databases, literature) and laboratory-developed tools (eg, novel statistical methods, in-house RNA analysis) by a multidisciplinary expert committee. Variants may have been reclassified more than once and with more than one line of evidence. RESULTS In this time period, 62,842 unique variants were observed across 25 cancer predisposition genes, and 2,976 variants were reclassified. Overall, 82.1% of reclassification events were downgrades (eg, variant of uncertain significance [VUS] to benign), and 17.9% were upgrades (eg, VUS to pathogenic). Among reclassified variants, 82.8% were initially classified as VUS, and 47.5% were identified in ≤ 20 individuals (allele frequency ≤ 0.001%). Laboratory-developed tools were used in 72.3% of variant reclassification events, which affected > 600,000 individuals. More than 1.3 million patients were identified as carrying a variant that was reclassified within this 20-year time period. CONCLUSION The variant classification program used by the laboratory evaluated here enabled the reclassification of variants that were individually rare. Laboratory-developed tools were a key component of this program and were used in the majority of reclassifications. This demonstrates the importance of using robust and novel tools to reclassify rare variants to appropriately inform personalized medical management.
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Kis, Tamás, András Kovács, and Csaba Mészáros. "On Optimistic and Pessimistic Bilevel Optimization Models for Demand Response Management." Energies 14, no. 8 (April 9, 2021): 2095. http://dx.doi.org/10.3390/en14082095.
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This paper investigates bilevel optimization models for demand response management, and highlights the often overlooked consequences of a common modeling assumption in the field. That is, the overwhelming majority of existing research deals with the so-called optimistic variant of the problem where, in case of multiple optimal consumption schedules for a consumer (follower), the consumer chooses an optimal schedule that is the most favorable for the electricity retailer (leader). However, this assumption is usually illegitimate in practice; as a result, consumers may easily deviate from their expected behavior during realization, and the retailer suffers significant losses. One way out is to solve the pessimistic variant instead, where the retailer prepares for the least favorable optimal responses from the consumers. The main contribution of the paper is an exact procedure for solving the pessimistic variant of the problem. First, key properties of optimal solutions are formally proven and efficiently solvable special cases are identified. Then, a detailed investigation of the optimistic and pessimistic variants of the problem is presented. It is demonstrated that the set of optimal consumption schedules typically contains various responses that are equal for the follower, but bring radically different profits for the leader. The main procedure for solving the pessimistic variant reduces the problem to solving the optimistic variant with slightly perturbed problem data. A numerical case study shows that the optimistic solution may perform poorly in practice, while the pessimistic solution gives very close to the highest profit that can be achieved theoretically. To the best of the authors’ knowledge, this paper is the first to propose an exact solution approach for the pessimistic variant of the problem.
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Cohen-Sobel, E., MA Caselli, and J. Rizzuto. "Prosthetic management of a Chopart amputation variant." Journal of the American Podiatric Medical Association 84, no. 10 (October 1, 1994): 505–10. http://dx.doi.org/10.7547/87507315-84-10-505.
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The history and prosthetic difficulties of a patient with an unusual Chopart amputation variant have been presented. Although it is possible for the Chopart amputee to walk with just a shoe and filler, this patient does best with a formal prosthesis. The Chopart amputation, which has been surgically stabilized with Achilles tendon lengthening to prevent equinus contractures, can be fitted successfully with a lightweight circumferential plastic or silicone prosthesis or more traditionally with a solid ankle foot orthosis with filler. This partial foot prosthesis is worn with a sturdy shoe with a rocker and solid ankle cushion heel or a well constructed running shoe. The Chopart amputee with equinus contractures must be fitted with a Chopart clamshell prosthesis or solid ankle patellar tendon bearing orthosis with filler and the above shoe prescription. Recent variants of the partial foot prosthesis including the Imler partial foot prosthesis, the Lange silicone prosthesis, and the ankle corset prosthesis were described.
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Rutherford-Parker, Nicola J., Jennifer M. Colby, Eric A. Gehrie, and Garrett S. Booth. "Unrecognized Hemoglobin Variants in the Donor Blood Supply Are Detectable in the Transfused Population." American Journal of Clinical Pathology 154, no. 4 (July 11, 2020): 494–98. http://dx.doi.org/10.1093/ajcp/aqaa061.
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Abstract Objectives The US Food and Drug Administration requires donated blood to be tested for various infectious diseases to ensure safety and purity. However, testing for hemoglobin variants is not required, despite reported occurrences of hemoglobin variant transfusion and concerns about the safety of such transfusions. This study aimed to investigate the frequency of hemoglobin variants within the blood supply. Methods We performed a 2-part study. First, we tested all RBC units in our blood bank by high-performance liquid chromatography for the presence of hemoglobin variants. Second, we performed a retrospective analysis of hemoglobin variant testing completed for routine management of sickle cell disease patients at our institution over a 5-month period to identify cases of hemoglobin variant transfusion. Results We found that 2 of 476 (0.4%) RBC units in our blood bank contained a hemoglobin variant, and 5 of 563 (0.9%) sickle cell patients seen at our institution in a 5-month period were transfused with RBCs containing a hemoglobin variant. Conclusions We confirmed that hemoglobin variants are present within the blood supply, and the frequency of hemoglobin variant transfusion is elevated for patients with sickle cell disease given the increased prevalence of hemoglobin variants in the population of matched donors.
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Porčová, Lenka, and Vladimír Smutný. "The Impact of Under‑Vine Management on the Weed Seedbank in the Soil." Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis 66, no. 5 (2018): 1165–70. http://dx.doi.org/10.11118/actaun201866051165.
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The evaluation of the weed seedbank in the soil was carried out in 2013 and 2014 in the Žabčice vineyard. Within the frame of maintenance management, three methods of under‑vine management were proposed: untreated control, chemical and mechanical method of weed management. 23 plant species were identified in the soil samples from the place below the grapevine. The obtained data were evaluated by the analysis of variance (ANOVA). Seeds of the species Amaranthus sp., Chenopodium album, Stellaria media, and Portulaca oleracea were the most common in all variants. Soil samples from the variant of mechanical weed management were the richest from the perspective of species. This variant also contained the smallest number of seeds per m2 of soil.
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Ayers, Katie, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, et al. "Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development." Journal of Medical Genetics 56, no. 7 (April 24, 2019): 434–43. http://dx.doi.org/10.1136/jmedgenet-2018-105893.
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BackgroundDesert hedgehog (DHH) gene variants are known to cause 46,XY differences/disorders of sex development (DSD). We have identified six patients with 46,XY DSD with seven novel DHH gene variants. Many of these variants were classified as variants of uncertain significance due to their heterozygosity or associated milder phenotype. To assess variant pathogenicity and to refine the spectrum of DSDs associated with this gene, we have carried out the first reported functional testing of DHH gene variant activity.MethodsA cell co-culture method was used to assess DHH variant induction of Hedgehog signalling in cultured Leydig cells. Protein expression and subcellular localisation were also assessed for DHH variants using western blot and immunofluorescence.ResultsOur co-culture method provided a robust read-out of DHH gene variant activity, which correlated closely with patient phenotype severity. While biallelic DHH variants from patients with gonadal dysgenesis showed significant loss of activity, variants found as heterozygous in patients with milder phenotypes had no loss of activity when tested with a wild type allele. Taking these functional results into account improved clinical interpretation.ConclusionOur findings suggest heterozygous DHH gene variants are unlikely to cause DSD, reaffirming that DHH is an autosomal recessive cause of 46,XY gonadal dysgenesis. Functional characterisation of novel DHH variants improves variant interpretation, leading to greater confidence in patient reporting and clinical management.
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Deschner, Christian. "Enhanced model-based engineering for centrally managed configuration management in product lifecycle management." SHS Web of Conferences 77 (2020): 03002. http://dx.doi.org/10.1051/shsconf/20207703002.
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In times products gain in complexity and variety whereby release and development cycles become even shorter, consistent and systematic variant management is essential not only for technical communication but also for the very most processes in PLM. Therefore, system engineering and system configuration themselves must be leading for a centrally managed, reliable variant management for all PLM processes. We depict how enhanced model-based system engineering approach based on product and product component models can be the enabler for variant management in all PLM processes by specific, explicitly deduced views in different stages of the entire Product Lifecycle.
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&NA;. "Management of Burn Scar Carcinoma: Acute Variant." Journal of Burn Care & Rehabilitation 24 (March 2003): S130. http://dx.doi.org/10.1097/00004630-200303002-00175.
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Starzec, Mariusz, Józef Dziopak, and Daniel Słyś. "An Analysis of Stormwater Management Variants in Urban Catchments." Resources 9, no. 2 (February 20, 2020): 19. http://dx.doi.org/10.3390/resources9020019.
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In order to identify the most effective variants for reducing flood risk in cities and to provide protection for water resources, an in-depth study was carried out. The research results allowed for the identification of sustainable drainage infrastructure solutions that should be used to increase the efficiency of traditional drainage systems. The most effective solution turned out to be the simultaneous use of low impact development facilities and stormwater flow control devices in drainage systems (Variant IV). Applicationof this variant (maximum discharge QOmax = 246.39 dm3/s) allowed for the reduction of the peak flow by as much as 86% in relation to those values that were established in the traditional drainage system (maximum discharge QOmax = 1807.62 dm3/s). The use of Variant IV allowed for a combination of the advantages of low impact development (LID) facilities and stormwater flow control devices in drainage systems while limiting their disadvantages. In practice, the flow of rainwater from the catchment area to the drainage system was limited, the share of green areas increased, and the drainage system retention capacity grew. The proposed approach for reducing the increasing flood risk in cities and providing protection for water resources provides a structured approach to long-term urban drainage system planning and land use guidelines.
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Bao, Riyue, Lei Huang, Jorge Andrade, Wei Tan, Warren A. Kibbe, Hongmei Jiang, and Gang Feng. "Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing." Cancer Informatics 13s2 (January 2014): CIN.S13779. http://dx.doi.org/10.4137/cin.s13779.
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The advent of next-generation sequencing technologies has greatly promoted advances in the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome sequencing, where the coding region of the genome is captured and sequenced at a deep level, has proven to be a cost-effective method to detect disease-causing variants and discover gene targets. In this review, we outline the general framework of whole exome sequence data analysis. We focus on established bioinformatics tools and applications that support five analytical steps: raw data quality assessment, preprocessing, alignment, post-processing, and variant analysis (detection, annotation, and prioritization). We evaluate the performance of open-source alignment programs and variant calling tools using simulated and benchmark datasets, and highlight the challenges posed by the lack of concordance among variant detection tools. Based on these results, we recommend adopting multiple tools and resources to reduce false positives and increase the sensitivity of variant calling. In addition, we briefly discuss the current status and solutions for big data management, analysis, and summarization in the field of bioinformatics.
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Słyś, Daniel, Agnieszka Stec, and Martina Zeleňáková. "A LCC Analysis of Rainwater Management Variants." Ecological Chemistry and Engineering S 19, no. 3 (January 1, 2012): 359–72. http://dx.doi.org/10.2478/v10216-011-0026-7.
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A LCC Analysis of Rainwater Management VariantsThe paper presents results of the Life Cycle Cost (LCC) analysis carried out for several variants of rainfall water management in a newly designed multi-family dwelling house. According to the LCC methodology, calculations were performed for the whole undertaking life cycle with both investment outlays and operation/maintenance costs taken into account. The LCC analysis was carried out, in particular, for a variant assuming that the rainwater collected from the roof will be entirely discharged to the sewage system. On the other hand, the second variant provided for replacement of traditional building roof with a green one. Facilities of that type, thanks to their retention properties, may delay runoff of rainwater and reduce the overall quantity of water discharged from roof surface and therefore can be classified as Sustainable Urban Drainage Systems. In the third case considered, rainwater is to be utilised in the building. It was assumed that precipitation water will be stored in a tank and used in the sanitary water supply system for flushing toilets, thus reducing the overall tap water purchase costs.
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Accetturo, Matteo, Nicola Bartolomeo, and Alessandro Stella. "In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification." International Journal of Molecular Sciences 21, no. 3 (January 22, 2020): 721. http://dx.doi.org/10.3390/ijms21030721.
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Background: With the advent of next-generation sequencing in genetic testing, predicting the pathogenicity of missense variants represents a major challenge potentially leading to misdiagnoses in the clinical setting. In neurofibromatosis type 1 (NF1), where clinical criteria for diagnosis may not be fully present until late infancy, correct assessment of variant pathogenicity is fundamental for appropriate patients’ management. Methods: Here, we analyzed three different computational methods, VEST3, REVEL and ClinPred, and after extracting predictions scores for 1585 NF1 missense variants listed in ClinVar, evaluated their performances and the score distribution throughout the neurofibromin protein. Results: For all the three methods, no significant differences were present between the scores of “likely benign”, “benign”, and “likely pathogenic”, “pathogenic” variants that were consequently collapsed into a single category. The cutoff values for pathogenicity were significantly different for the three methods and among benign and pathogenic variants for all methods. After training five different models with a subset of benign and pathogenic variants, we could reclassify variants in three sharply separated categories. Conclusions: The recently developed metapredictors, which integrate information from multiple components, after gene-specific fine-tuning, could represent useful tools for variant interpretation, particularly in genetic diseases where a clinical diagnosis can be difficult.
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Goldman, Steven A., Manuel P. Meza, Frank L. Rimell, and Beverly Newman. "Diagnosis and Management of Left Main Stem Bronchus Compression." Annals of Otology, Rhinology & Laryngology 106, no. 6 (June 1997): 461–65. http://dx.doi.org/10.1177/000348949710600603.
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There are four major variants of congenital vascular tracheal compression: innominate artery, aberrant subclavian, aorta or aortic arch anomaly, and pulmonary artery sling. These forms of vascular compression typically involve the trachea and/or the right main stem bronchus. We present eight cases of congenital vascular compression involving the left main stem bronchus. These cases represent a poorly understood variant of vascular tracheal compression. This variant represents approximately 10% of our pediatric tracheobronchial compression or stenosis patients. The finding, both noted endoscopically and now illustrated by magnetic resonance imaging, is caused by compression of the left main stem bronchus between the descending aorta and a portion of the pulmonary artery. Frequently, the descending aorta is in an abnormal anterior position with relation to the thoracic spine. Recognition of this entity is important in our experience and has influenced clinical management. In four of eight children, it required a surgical procedure directed toward the relief of the left main stem compression.
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Škorecová, E., and M. Farkašová. "Variant calculation system – the instrument of economic performance management of a multifunctional agricultural enterprise." Agricultural Economics (Zemědělská ekonomika) 54, No. 8 (August 22, 2008): 376–83. http://dx.doi.org/10.17221/297-agricecon.
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The article is focused on the importance of using the variant calculation methods in the management of companies’ performance under the conditions of multifunctional agriculture. It mentions the difference between the calculations formed for the needs of valuating the production in the financial statements and the managerial calculations. Attention is paid to overhead costs in agriculture, their development is depicted with tables and graphs. The development of overhead costs during the time period of 1997–2006 is presented in crop production and outputs of wheat and rapeseed, in livestock production in Slovakia and in the outputs of cattle (6–24 months) and pigs (1–12 months). The fastidiousness of market environment of the globalized economies requires a gradual transformation from the classical calculation system into the managerial calculation system, which provides a multidimensional insight into the product as well as the market. The sequence of establishing the variant calculation methods is also introduced together with the reasons of under-valuating calculations in the managerial practice.
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Tippett, Donna C. "Classification of primary progressive aphasia: challenges and complexities." F1000Research 9 (January 30, 2020): 64. http://dx.doi.org/10.12688/f1000research.21184.1.
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Primary progressive aphasia (PPA) is classified into three variants, logopenic variant PPA (lvPPA), nonfluent agrammatic PPA (nfaPPA), and semantic variant PPA (svPPA), based on clinical (syndromic) characteristics with support from neuroimaging and/or underlying neuropathology. Classification of PPA variants provides information valuable to disease management. International consensus criteria are widely employed to identify PPA subtypes; however, classification is complex, and some individuals do not fit neatly into the subtyping scheme. In this review, diagnostic challenges and their implications are discussed, possible explanations for these challenges are explored, and approaches to address PPA classification are considered.
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Shah, Amar S., Valerie F. Civelli, Varun Bali, Royce H. Johnson, and Arash Heidari. "A Case of S-Variant Hepatitis B Virus: An Immune System Escape Artist." Journal of Investigative Medicine High Impact Case Reports 9 (January 2021): 232470962110454. http://dx.doi.org/10.1177/23247096211045450.
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Genomic variants of the hepatitis B virus (HBV) preS/S protein are well-known to occur. Typically, immunity is gained through recovered HBV infection or by immunization. Very rarely, there are certain mutations that may enable HBV escape from the immune detection. PreS/S mutants may present with unpredictable pathobiologic, clinical, and transmittable implications. Standard laboratory testing for genomic HBV variants is not routinely performed by reference guidelines. s-variant HBV management remains challenging. Herein is a case of s-variant chronic HBV infection in a 55-year-old man. Diagnosis and treatment are described.
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Grigutsch, Michael, Johannes Nywlt, Matthias Schmidt, and Peter Nyhuis. "Highly Flexible Final Production Stages - Taking Advantages of Scale Effects by Reducing Internal Component Variants." Advanced Materials Research 907 (April 2014): 127–37. http://dx.doi.org/10.4028/www.scientific.net/amr.907.127.
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The rapid manufacturing of a great variety of variant products is gaining importance in global competition. Customers are increasingly demanding products which are matched to their specific demands. The production of these customized variants gives a competitive advantage, but also affords a high inner variance which leads to high production costs. Almost every step in the process of making a product is capable of generating variants. A key element in variant management is to make the variants as late as possible in order to exploit economies of scale in the earlier stages of production and to minimize the complexity of production. The technique of the highly flexible final production stage consists in achieving a late emergence of variants by integrating the variant-specific manufacturing processes into the assembly stage and enabling a mass production within a preliminary production stage at the same time. This means abandoning the conventional distinction between manufacturing and assembly in favour of a division into the preliminary, variant-neutral production stage and a final production stage where the variants take shape. The final production stage includes all the processes that determine variants. The complete manufacture of variant-neutral parts and subassemblies takes place in the preliminary production stage, as does the pre-manufacturing of those parts and sub-assemblies which are to undergo final manufacturing as variants in the final production stage. In order to apply the technique of the highly flexible final production stage successfully an integrated approach is necessary which is presented in this paper.
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Balmaña, Judith, Laura Digiovanni, Pragna Gaddam, Michael F. Walsh, Vijai Joseph, Zsofia K. Stadler, Katherine L. Nathanson, et al. "Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing." Journal of Clinical Oncology 34, no. 34 (December 1, 2016): 4071–78. http://dx.doi.org/10.1200/jco.2016.68.4316.
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Purpose Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. We describe conflicting variant interpretations between Clinical Laboratory Improvement Amendments–approved commercial clinical laboratories, as reported to the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry. Methods Clinical data and genetic testing results were gathered from 1,191 individuals tested for inherited cancer susceptibility and self-enrolled in PROMPT between September 2014 and October 2015. Overall, 518 participants (603 genetic variants) had a result interpreted by more than one laboratory, including at least one submitted to ClinVar, and these were used as the final cohort for the current analysis. Results Of the 603 variants, 221 (37%) were classified as a variant of uncertain significance (VUS), 191 (32%) as pathogenic, and 34 (6%) as benign. The interpretation differed among reporting laboratories for 155 (26%). Conflicting interpretations were most frequently reported for CHEK2 and ATM, followed by RAD51C, PALB2, BARD1, NBN, and BRIP1. Among all participants, 56 of 518 (11%) had a variant with conflicting interpretations ranging from pathogenic/likely pathogenic to VUS, a discrepancy that may alter medical management. Conclusions Conflicting interpretation of genetic findings from multiplex panel testing used in clinical practice is frequent and may have implications for medical management decisions.
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Brinke, E. Ten, Eric Lutters, Ton Streppel, and H. J. J. Kals. "Variant-based cost estimation based on Information Management." International Journal of Production Research 38, no. 17 (November 2000): 4467–79. http://dx.doi.org/10.1080/00207540050205235.
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Pressman, Peter S., and Bruce L. Miller. "Diagnosis and Management of Behavioral Variant Frontotemporal Dementia." Biological Psychiatry 75, no. 7 (April 2014): 574–81. http://dx.doi.org/10.1016/j.biopsych.2013.11.006.
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Kapás, Judit. "NEW VARIANT OF THE FIRM: A MARKET‐LIKE FORM." Journal of Business Economics and Management 5, no. 4 (December 31, 2004): 217–28. http://dx.doi.org/10.3846/16111699.2004.9636085.
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The paper is concerned with the issue of variants within a firm, the causes of their emergence and coexistence. A particular attention is paid to the New Economy's variant called market‐like form. It is contrasted with the M‐form firm that was dominated over the last century. Significant shift in physical technology is thought to be a major force driving the evolution process of a firm which is characterized by the emergence of new variants. The paper also analyzes how the character of the production technology determines which variant of the firm is the best suitable to a particular technology.
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Janušaitis, Rytis. "ESTIMATION OF ALTERNATIVE WALL INSULATING SOLUTIONS USING THE METHOD OF TECHNOLOGICAL NETWORK MODEL “CUTTING OUT” JUNCTIONS/SIENŲ ŠILTINIMO ALTERNATYVIŲ SPRENDIMŲ ĮVERTINIMAS, TAIKANT TECHNOLOGINIO TINKLINIO MODELIO MAZGŲ “IŠPJOVIMO” METODĄ." JOURNAL OF CIVIL ENGINEERING AND MANAGEMENT 4, no. 2 (June 30, 1998): 161–70. http://dx.doi.org/10.3846/13921525.1998.10531397.
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The article investigates the problem of the dwelling house wall insulation of many-variant decisions estimation. At present multi-criteria evaluation methods are used. They provide the formal algorithm of the final effective selection of solution. However, during the optimisation of the decisions it is expedient to analyse the efficiency of intermediate decisions and those influencing the final findings. With that end in view the author suggests the multi- criteria problem of the evaluations of the variant decision using the method or technological network model of “cutting out” junctions. The main points of this method are: To cut out a comparable variant junction. Comparable variant junction is such a junction that contains at least two technological process variants. To determine comparable partial processes to the junction. To carry out a multi-criteria evaluation. To eliminate non-rational variants from further calculations. To pick out the most effective decision for the junction. From such decisions the complex process variants of wall insulation are made and multi-criteria evaluation is repeated. This method increases the abilities to raise the number of the partial alternative decisions for establishing the effectiveness ot the intermediate decisions, to receive and verify quickly final results of the decision evaluation and to decrease the amount of the calculations. “Cutting out” junction method can be used for estimating the decisions of building thermal renovation at the designing stage.
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Weiler-Normann, Christina, and Ansgar W. Lohse. "Variant Syndromes of Autoimmune Liver Diseases: Classification, Diagnosis and Management." Digestive Diseases 34, no. 4 (2016): 334–39. http://dx.doi.org/10.1159/000444472.
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The term ‘overlap syndrome' has been used to describe the presence of both autoimmune hepatitis and primary biliary cholangitis or primary sclerosing cholangitis in the past. As this term is misleading, the term ‘variant syndrome' should be used preferably. Laboratory features, serology, histology and bile duct imaging contribute to the diagnosis of ‘variant syndromes'. Patients with a suspected variant syndrome should receive a complete work-up with liver histology, serology and - if not conclusive, bile duct imaging. Liver histology is usually reliable to recognize secondary autoimmune hepatitis in patients with primary cholestatic disease. An histological activitiy index of >4 usually is commonly seen in patients with variant syndrome. Identification of variant syndrome is very important, as appropriate - in most cases additional - immunosuppressive treatment is necessary and most patients will respond promptly.
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GARDZIEJCZYK, Wladyslaw, and Piotr ZABICKI. "Normalization and variant assessment methods in selection of road alignment variants – case study." JOURNAL OF CIVIL ENGINEERING AND MANAGEMENT 23, no. 4 (April 21, 2017): 510–23. http://dx.doi.org/10.3846/13923730.2016.1210223.
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The choice of the most beneficial road alignment variant is a multicriteria issue, based on transport, economic, social and environmental criteria. The criteria chosen for a multicriteria analysis can be expressed through measurable or immeasurable parameters. In order to compare and assess the variants it is necessary to normalize the criteria, which means a rescaling of their value, so that the criteria values fall into a specific range. The main aim of normalization is to assign an identical weight to each criterion in relation to other criteria. This article presents a review of the influence of criteria normalization methods and the variant assessment methods on the choice of the most beneficial road alignment variant on the example of the bypass of the town of Księżyno, which is a stretch of Regional Road 678 near Bialystok. Four variants of road alignment were compared and their ranking was created using six assessment methods. It was proven that the choices of the criteria normalization method as well as the variant assessment method both have significant influence on the result of the multicriteria analysis in the decision-making process of selecting the road alignment.
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Ross, Justyne E., Bing M. Zhang, Kristy Lee, Shruthi Mohan, Brian R. Branchford, Paul Bray, Stefanie N. Dugan, et al. "Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel." Blood Advances 5, no. 2 (January 20, 2021): 414–31. http://dx.doi.org/10.1182/bloodadvances.2020003712.
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Abstract Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification among different clinical laboratories, the American College of Medical Genetics and Genomics (ACMG), along with the Association for Molecular Pathology (AMP), published standards and guidelines for the interpretation of sequence variants in 2015. Because the rules are not universally applicable to different genes or disorders, the Clinical Genome Resource (ClinGen) Platelet Disorder Expert Panel (PD-EP) has been tasked to make ACMG/AMP rule specifications for inherited platelet disorders. ITGA2B and ITGB3, the genes underlying autosomal recessive Glanzmann thrombasthenia (GT), were selected as the pilot genes for specification. Eight types of evidence covering clinical phenotype, functional data, and computational/population data were evaluated in the context of GT by the ClinGen PD-EP. The preliminary specifications were validated with 70 pilot ITGA2B/ITGB3 variants and further refined. In the final adapted criteria, gene- or disease-based specifications were made to 16 rules, including 7 with adjustable strength; no modification was made to 5 rules; and 7 rules were deemed not applicable to GT. Employing the GT-specific ACMG/AMP criteria to the pilot variants resulted in a reduction of variants classified with unknown significance from 29% to 20%. The overall concordance with the initial expert assertions was 71%. These adapted criteria will serve as guidelines for GT-related variant interpretation to increase specificity and consistency across laboratories and allow for better clinical integration of genetic knowledge into patient care.
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Radu, Sorin Mihai. "The Management of the Mechanized Face, Considered as a Unique System." International Letters of Social and Humanistic Sciences 27 (May 2014): 184–93. http://dx.doi.org/10.18052/www.scipress.com/ilshs.27.184.
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The systemic approach of the mechanized face is carried out by appealing to the flexible economic-mathematics models, to the advantages offered by their using. The concept of vague sets (by fuzzyfication) was used, the issues to be solved become more flexible and allow those who have to take a decision to get many variants for the objectively established functions among them can select the best variant, in accordance with the requirements of the moment and intuition.
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Fasano, Ross M., Alessandro Monaco, Emily Riehm Meier, Philippe Pary, A. Hallie Lee-Stroka, John Otridge, Harvey G. Klein, et al. "RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management." Blood 116, no. 15 (October 14, 2010): 2836–38. http://dx.doi.org/10.1182/blood-2010-04-279372.
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Abstract African individuals harbor molecular RH variants, which permit alloantibody formation to high-prevalence Rh antigens after transfusions. Genotyping identifies such RH variants, which are often missed by serologic blood group typing. Comprehensive molecular blood group analysis using 3 genotyping platforms, nucleotide sequencing, and serologic evaluation was performed on a 7-year-old African male with sickle cell disease who developed an “e-like” antibody shortly after initiating monthly red blood cell (RBC) transfusions for silent stroke. Genotyping of the RH variant predicted a severe shortage of compatible RBCs for long-term transfusion support, which contributed to the decision for hematopoetic stem cell transplantation. RH genotyping confirmed the RH variant in the human leukocyte antigen–matched sibling donor. The patient's (C)ces type 1 haplotype occurs in up to 11% of African American sickle cell disease patients; however, haplotype-matched RBCs were serologically incompatible. This case documents that blood unit selection should be based on genotype rather than one matching haplotype.
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Li, Shuwei, Dajun Qian, Bryony A. Thompson, Stephanie Gutierrez, Sitao Wu, Tina Pesaran, Holly LaDuca, Hsiao-Mei Lu, Elizabeth C. Chao, and Mary Helen Black. "Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity." Journal of Medical Genetics 57, no. 1 (August 7, 2019): 62–69. http://dx.doi.org/10.1136/jmedgenet-2019-106096.
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BackgroundPathogenic variants in mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) increase risk for Lynch syndrome and related cancers. We quantified tumour characteristics to assess variant pathogenicity for germline MMR genes.MethodsAmong 4740 patients with cancer with microsatellite instability (MSI) and immunohistochemical (IHC) results, we tested MMR pathogenic variant association with MSI/IHC status, and estimated likelihood ratios which we used to compute a tumour characteristic likelihood ratio (TCLR) for each variant. Predictive performance of TCLR in combination with in silico predictors, and a multifactorial variant prediction (MVP) model that included allele frequency, co-occurrence, co-segregation, and clinical and family history information was assessed.ResultsCompared with non-carriers, carriers of germline pathogenic/likely pathogenic (P/LP) variants were more likely to have abnormal MSI/IHC status (p<0.0001). Among 150 classified missense variants, 73.3% were accurately predicted with TCLR alone. Models leveraging in silico scores as prior probabilities accurately classified >76.7% variants. Adding TCLR as quantitative evidence in an MVP model (MVP +TCLRPred) increased the proportion of accurately classified variants from 88.0% (MVP alone) to 98.0% and generated optimal performance statistics among all models tested. Importantly, MVP +TCLRPred resulted in the high yield of predicted classifications for missense variants of unknown significance (VUS); among 193 VUS, 62.7% were predicted as P/PL or benign/likely benign (B/LB) when assessed according to American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.ConclusionOur study demonstrates that when used separately or in conjunction with other evidence, tumour characteristics provide evidence for germline MMR missense variant assessment, which may have important implications for genetic testing and clinical management.
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Chanchal, Rana, Goel Divya, Singh Akanksha, Babu Suresh, and Singh Vishwajeet. "Osteoclastic giant cell variant of urothelial carcinoma in a COVID- positive patient: A rare variant in an unusual circumstances." Archives of Case Reports 5, no. 1 (April 12, 2021): 009–11. http://dx.doi.org/10.29328/journal.acr.1001047.
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Bladder carcinomas have a great propensity for divergent differentiation with more that 90% being Transitional cell carcinoma. Several histological variants have been have described so far; they are not only morphologically unique but also have significant prognostic and therapeutic differences making their timely identification of paramount importance. Osteoclastic giant cell variant of urothelial carcinoma is very rare type with controversial management. Studies from China have documented higher incidence and severity of illness in COVID-19 positive cancer patients. We report an unusual case of Osteoclastic giant cell variant of urothelial carcinoma in a 63 yrs old male patient associated with simultaneous COVID-19 infection.
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Creech, Trey B., and Li Zhang. "Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia." Case Reports in Anesthesiology 2019 (March 19, 2019): 1–3. http://dx.doi.org/10.1155/2019/3189719.
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Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate. Three genes, RYR1, CACNA1S, and STAC3, have been associated with MH susceptibility. Multiple genetic variants have been identified in these three genes. Some of those variants were pathogenic, but many others are yet to be tested. Such uncertainty can make it challenging for anesthesia providers as there is currently no anesthesia guideline for each genetic variant in patients who have neither clinical nor family history of MH. With the increasing popularity of whole exome sequencing, anesthesia providers will likely face such challenges more often as many patients may have genetic variations of unknown clinical significance in their RYR1, CACNA1S, or STAC3 genes. Here we describe change of anesthesia management for a patient who had an incidental finding of a genetic variant in RYR1 gene undergoing an elective coronary artery bypass surgery.
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Seiler, F. M., and D. Krause. "A MULTI-DIMENSIONAL CONFIGURATION ALGORITHM FOR MODULAR PRODUCT ARCHITECTURES." Proceedings of the Design Society: DESIGN Conference 1 (May 2020): 2405–14. http://dx.doi.org/10.1017/dsd.2020.283.
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AbstractWith an increasing demand for product individualisation leading to increased product architecture complexity and -costs, modular kits are one common measure to cope with this issue. The management of such a modular kit as well as the methodical determination of a specific product variant is key to the manufacturer's success. As multiple influence factors need to be taken into account when configuring product variants, we propose a multi-dimensional geometric optimisation algorithm, allowing for prioritising varying customer demands and thereby determining the ideally balanced product variant.
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Rijken, Johannes, Leonie van Hulsteijn, Olaf Dekkers, Nicolasine Niemeijer, C. Leemans, Karin Eijkelenkamp, Anouk van der Horst-Schrivers, et al. "Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers." Cancers 11, no. 1 (January 17, 2019): 103. http://dx.doi.org/10.3390/cancers11010103.
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Germline mutations in succinate dehydrogenase subunit B and D (SDHB and SDHD) are predisposed to hereditary paraganglioma (PGL) and pheochromocytoma (PHEO). The phenotype of pathogenic variants varies according to the causative gene. In this retrospective study, we estimate the mortality of a nationwide cohort of SDHB variant carriers and that of a large cohort of SDHD variant carriers and compare it to the mortality of a matched cohort of the general Dutch population. A total of 192 SDHB variant carriers and 232 SDHD variant carriers were included in this study. The Standard Mortality Ratio (SMR) for SDHB mutation carriers was 1.89, increasing to 2.88 in carriers affected by PGL. For SDHD variant carriers the SMR was 0.93 and 1.06 in affected carriers. Compared to the general population, mortality seems to be increased in SDHB variant carriers, especially in those affected by PGL. In SDHD variant carriers, the mortality is comparable to that of the general Dutch population, even if they are affected by PGL. This insight emphasizes the significance of DNA-testing in all PGL and PHEO patients, since different clinical risks may warrant gene-specific management strategies.
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Caswell, Richard C., Tristan Snowsill, Jayne A. L. Houghton, Ali J. Chakera, Maggie H. Shepherd, Thomas W. Laver, Bridget A. Knight, David Wright, Andrew T. Hattersley, and Sian Ellard. "Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants." Clinical Chemistry 66, no. 7 (June 12, 2020): 958–65. http://dx.doi.org/10.1093/clinchem/hvaa104.
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Abstract Background Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit a pathogenic hepatocyte nuclear factor 4α (HNF4A) diabetes variant are at increased risk of high birth weight. Noninvasive fetal genotyping for maternal pathogenic variants would inform pregnancy management. Methods Droplet digital PCR was used to quantify reference and variant alleles in cell-free DNA extracted from blood from 38 pregnant women heterozygous for a GCK or HNF4A variant and to determine fetal fraction by measurement of informative maternal and paternal variants. Droplet numbers positive for the reference/alternate allele together with the fetal fraction were used in a Bayesian analysis to derive probability for the fetal genotype. The babies’ genotypes were ascertained postnatally by Sanger sequencing. Results Droplet digital PCR assays for GCK or HNF4A variants were validated for testing in all 38 pregnancies. Fetal fraction of ≥2% was demonstrated in at least 1 cell-free DNA sample from 33 pregnancies. A threshold of ≥0.95 for calling homozygous reference genotypes and ≤0.05 for heterozygous fetal genotypes allowed correct genotype calls for all 33 pregnancies with no false-positive results. In 30 of 33 pregnancies, a result was obtained from a single blood sample. Conclusions This assay can be used to identify pregnancies at risk of macrosomia due to maternal monogenic diabetes variants.
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Tekchandani, Prakash, and Aditya Trivedi. "Clock Drift Management Using Nature Inspired Algorithms." Journal of Information Technology Research 5, no. 4 (October 2012): 48–62. http://dx.doi.org/10.4018/jitr.2012100104.
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Time Synchronization is common requirement for most network applications. It is particularly essential in a Wireless Sensor Networks (WSNs) to allow collective signal processing, proper correlation of diverse measurements taken from a set of distributed sensor elements and for an efficient sharing of the communication channel. The Flooding Time Synchronization Protocol (FTSP) was developed explicitly for time synchronization of wireless sensor networks. In this paper, we optimized FTSP for clock drift management using Particle Swarm Optimization (PSO), Variant of PSO and Differential Evolution (DE). The paper estimates the clock offset, clock skew, generates linear line and optimizes the value of average time synchronization error using PSO, Variant of PSO and DE. In this paper we present implementation and experimental results that produces reduced average time synchronization error using PSO, Variant of PSO and DE, compared to that of linear regression used in FTSP.
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Popovych, Raisa. "NOMINATIVE ASPECT OF VARIATION IN TERMINOLOGY." International Journal of New Economics and Social Sciences 4, no. 2 (December 30, 2016): 0. http://dx.doi.org/10.5604/01.3001.0010.4557.
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Main types of variation in terminology, which arise from formal, semantic and functional invariants, are distinguished in the article. The notion of onomasyological invariant is determined, on the base of which the nominal variants and nominatively- variant terminological paradigms in the Spanish water management terminology are defined. The interconnection between different types of terminological variation, their role in nominative variants enriching and nominative variants paradigm forming are analyzed.
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Ripon, Shamim H., Sk Jahir Hossain, and Moshiur Mahamud Piash. "Logic-Based Analysis and Verification of Software Product Line Variant Requirement Model." International Journal of Knowledge and Systems Science 5, no. 4 (October 2014): 52–76. http://dx.doi.org/10.4018/ijkss.2014100104.
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Software Product Line (SPL) provides the facility to systematically reuse of software improving the efficiency of software development regarding time, cost and quality. The main idea of SPL is to identify the common core functionality that can be implemented once and reused afterwards. A variant model has also to be developed to manage the variants of the SPL. Usually, a domain model consisting of the common and variant requirements is developed during domain engineering phase to alleviate the reuse opportunity. The authors present a product line model comprising of a variant part for the management of variant and a decision table to depict the customization of decision regarding each variant. Feature diagrams are widely used to model SPL variants. Both feature diagram and our variant model, which is based on tabular method, lacks logically sound formal representation and hence, not amenable to formal verification. Formal representation and verification of SPL has gained much interest in recent years. This chapter presents a logical representation of the variant model by using first order logic. With this representation, the table based variant model as well as the graphical feature diagram can now be verified logically. Besides applying first-order-logic to model the features, the authors also present an approach to model and analyze SPL model by using semantic web approach using OWL-DL. The OWL-DL representation also facilitates the search and maintenance of feature models and support knowledge sharing within a reusable engineering context. Reasoning tools are used to verify the consistency of the feature configuration for both logic-based and semantic web-based approaches.
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Accetturo, Matteo, Angela Maria D’Uggento, Piero Portincasa, and Alessandro Stella. "Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever." Rheumatology 59, no. 4 (August 14, 2019): 754–61. http://dx.doi.org/10.1093/rheumatology/kez332.
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Abstract Objective FMF is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still largely classified as acvariant of uncertain significance, or with unresolved classification, posing significant challenges in FMF diagnosis. Rare Exome Variant Ensemble Learner (REVEL) is a recently developed variant metapredictor tool. To reduce the number of MEFV variants with ambiguous classification, we extracted REVEL scores for all missense variants present in the INFEVERS database, and analysed its correlation with expert-based classification and localization in the MEFV-encoded pyrin functional domains. Methods The data set of 216 MEFV missense variants was divided into four categories (likely benign, variant of uncertain significance, likely pathogenic and unresolved). Variants were plotted onto the pyrin protein, the distribution of REVEL scores in each category was computed and means, confidence intervals, and area under the receiver operating curve were calculated. Results We observed a non-random distribution of pathogenic variants along the pyrin functional domains. The REVEL scores demonstrated a good correlation with the consensus classification of the International Study Group for Systemic Autoinflammatory Diseases. Sensitivity, specificity and accuracy were calculated for different cut-off values of REVEL scores and a gene-specific-threshold of 0.298 was computed with confidence boundary limits. This cut-off value allowed us to propose a reclassification of 96 MEFV gene variants, thus reducing the variant of uncertain significance proportion from 61.6% to 17.6%. Conclusion The combination of available expert information with sensitive predictor tools could result in a more accurate interpretation of clinical consequences of MEFV gene variants, and to a better genetic counselling and patient management.
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Crona, Daniel James, Anthony Drier, Jing Daisy Zhu, Emily Fox Bell, Margaret Rose Sketch, Alexandra Boland, Amy Garrett, et al. "Next-generation sequencing of primary prostate cancer tumors to reveal actionable opportunities for clinical management." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e16582-e16582. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e16582.
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e16582 Background: The Strata Trial (NCT03061305) is a multi-institutional precision oncology collaboration structured as an observational protocol that aims to match patients to genomically guided therapies. Methods: Selected University of North Carolina (UNC) metastatic prostate cancer (mPC) patients were enrolled on this IRB-approved study. Formalin fixed paraffin-embedded primary tumor specimens, without matched germline controls, were sent for targeted next generation sequencing (NGS) to detect actionable variants, including: mutations in 87 genes, copy number variations in 31 genes, gene fusions in 46 gene drivers, and microsatellite instability (MSI) status. mPC-related genes of specific interest included: AR, ATM, BRCA1/2, ERG, MSH2, MSH6, PTEN, RB1, and TP53. Results: Of the 108 cases sequenced, 6 (6%) failed testing. Of the 102 mPC patients with sequence data, the median age was 69 (47-86), 60 (59%) were white, 35 (34%) were black, 1 (1%) was Asian, and 6 (6%) declined to identify race. NGS data revealed 122 variants in 27 genes: 73 patients (71%) had at least one variant. Among those 73 patients, 38 (52%) had only 1 variant, 24 (33%) had 2 variants, 8 (11%) had 3 variants, and 3 (4%) had 4 variants. TMPRSS2-ERG fusions occurred most frequently (51%), followed by TP53 variants (38%), and PTEN variants (16%). Only 8% of patients had variants in DNA damage repair genes, including ATM (3%), BRCA2 (3%) and MSH2 (2%). Two patients with MSI high tumors were treated with pembrolizumab, while 4 patients with deep BRCA2 or ATM deletions were eligible for trials of PARP inhibition. Conclusions: Our UNC experience shows that a high proportion of primary prostate cancer tumors from mPC patients have genomic variants, and two patients were treated based on these data. Limited actionability may reflect the landscape of currently FDA approved mPC treatments available clinical trials, or due to short duration of follow-up after enrollment on the Strata Trial.
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Shuhratovna, Negmatova Gulzoda. "Management Of A Patient With A Rare Variant Of Autoimmune Polyglandular Syndrome Of The Second Type." AMERICAN JOURNAL OF MEDICAL SCIENCES AND PHARMACEUTICAL RESEARCH 02, no. 07 (July 30, 2020): 24–30. http://dx.doi.org/10.37547/tajmspr/volume02issue07-04.
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