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1

Farhud, D. D., P. Daneshmand y P. Amirshani. "A new transferrin variant from Iran (Tf B-Iran): Review of 36 variant alleles". Anthropologischer Anzeiger 46, n.º 4 (21 de diciembre de 1988): 357–63. http://dx.doi.org/10.1127/anthranz/46/1988/357.

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2

Ruby Dhar, Hiya Aidasani, Om Saswat Sahoo, Arun Kumar y Subhradip Karmakar. "JN.1: The new COVID-19 variant of concern?" Asian Journal of Medical Sciences 15, n.º 2 (1 de febrero de 2024): 251–53. http://dx.doi.org/10.3126/ajms.v15i2.61144.

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Emergence of new variants of COVID-19 is nothing new. Different variants evolved with additional mutations of the virus as part of the viral replication cycle have different infectious properties. JN.1 is the latest COVID-19 variant that seems to circulate the globe contributing to many infections and hospitalizations labeling it a variant of interest by the WHO. The scientific community has yet to understand its full lethal potential if any. In this mini-review, we summarized the facts known so far about this variant and its possible consequences if any for humanity.
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3

Salaš, P. "New technologies and improvement of nursery stock quality". Horticultural Science 29, No. 4 (6 de enero de 2012): 153–60. http://dx.doi.org/10.17221/4479-hortsci.

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This four years experimentation work was aimed at research on using various waste organic materials and especially timber bark in cultivation substrates as a substitute of peat. Sixty-four special isolated cultivation beds were established for this purpose, each of 4.8 m<sup>3</sup> volume, in which 11 variants of substrates consisting of different proportions of different components in several replications were tested. Standard substrates Horticultural substrate B and RKS I. were used as controls. Another variant was used as a control for growing tests of plants in containers. All tested substrates were enriched with hydroabsorbent TerraCottem. In some variants reserve fertilisers with slow release of nutrients (Silvamix Forte) were applied. For cultivation testing of studied substrates four ornamental tree species (Alnus glutinosa, Fraxinus excelsior, Salix alba, Salix matsudana) were chosen. The best evaluated variants were the ones containing 50 and 75% of bark in combination with sand. The worst was the variant composed of chips and sawdust. Thanks to the use of hydroabsorbents, even the variant containing 100% of sand appeared to be very good. The tested trees had different reactions to the different types of substrates depending on their species requirements. The limiting growth factor for Alnus was the content of water in the substrate. Similarly, the content of available nutrients in the substrate was essential for Fraxinus. The hardwood cuttings of Salix not only rooted into the substrate in a few weeks, but also formed aboveground parts of the required sizes. Obtained data on growth parameters differed according to the diversity of requirements of the different studied species.
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4

Anand, Aanchal, Samar Hossain, Akashdeep Sharma y Ukshan Shah. "A new variant of COVID-19: But is it less deadly?" Indian Journal of Forensic and Community Medicine 9, n.º 1 (15 de marzo de 2022): 44–46. http://dx.doi.org/10.18231/j.ijfcm.2022.010.

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WHO designated the variant B.1.1.529 as a variant of concern on 26 November 2021 and since then there have been many speculations regarding its origin and control measures. It is not yet clear if the omicron variant is more transmissible compared to other variants.
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5

Cheepsattayakorn, Attapon. "Omicron: A New Variant of SARS-CoV-2 (COVID-19)". Open Access Journal of Pulmonary & Respiratory Sciences 6, n.º 1 (2021): 1. http://dx.doi.org/10.23880/oajprs-16000151.

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On November 24, 2021, the B.1.1.529 variant of SARSCoV-2 (COVID-19) was first reported from South Africa [1]. The first known confirmed B.1.1.529 infected specimen was collected on November 9, 2021 [1]. On November 25, 2021, daily case numbers in South Africa increased quickly with three distinct peaks in reported cases (the latest peak was predominantly the Delta variant) to more than 1,200 cases from 273 cases on November 16, 2021, more than 80% infected cases, including first case were in the northern province of Gauteng [2]. Currently, this variant is spreading, globally [2].
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6

Ullah, Amin, Khalid Mahmood Malik, Abdul Khader Jilani Saudagar, Muhammad Badruddin Khan, Mozaherul Hoque Abul Hasanat, Abdullah AlTameem, Mohammed AlKhathami y Muhammad Sajjad. "COVID-19 Genome Sequence Analysis for New Variant Prediction and Generation". Mathematics 10, n.º 22 (15 de noviembre de 2022): 4267. http://dx.doi.org/10.3390/math10224267.

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The new COVID-19 variants of concern are causing more infections and spreading much faster than their predecessors. Recent cases show that even vaccinated people are highly affected by these new variants. The proactive nucleotide sequence prediction of possible new variants of COVID-19 and developing better healthcare plans to address their spread require a unified framework for variant classification and early prediction. This paper attempts to answer the following research questions: can a convolutional neural network with self-attention by extracting discriminative features from nucleotide sequences be used to classify COVID-19 variants? Second, is it possible to employ uncertainty calculation in the predicted probability distribution to predict new variants? Finally, can synthetic approaches such as variational autoencoder-decoder networks be employed to generate a synthetic new variant from random noise? Experimental results show that the generated sequence is significantly similar to the original coronavirus and its variants, proving that our neural network can learn the mutation patterns from the old variants. Moreover, to our knowledge, we are the first to collect data for all COVID-19 variants for computational analysis. The proposed framework is extensively evaluated for classification, new variant prediction, and new variant generation tasks and achieves better performance for all tasks. Our code, data, and trained models are available on GitHub (https://github.com/Aminullah6264/COVID19, accessed on 16 September 2022).
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7

Li, Zongbin, Yudong Zhang, Claude Esling, Xiang Zhao, Yandong Wang y Liang Zuo. "New approach to twin interfaces of modulated martensite". Journal of Applied Crystallography 43, n.º 3 (30 de abril de 2010): 617–22. http://dx.doi.org/10.1107/s002188981000868x.

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In Ni–Mn–Ga ferromagnetic shape memory alloys, the crystallographic nature of martensitic variant interfaces is one of the key factors governing the variant reorientation through field-induced interface motion and hence the shape memory performance. So far, the crystal structure studies of these materials – conducted by means of transmission electron microscopy – have suffered from uncertainties in determining the number of unit cells of modulated superstructure, and consequently improper interpretations of orientation correlations of martensitic variants. In this paper a new approach is presented for comprehensive analysis of crystallographic and morphological information of modulated martensite, using automated electron backscatter diffraction. As a first attempt, it has been applied for the unambiguous determination of the orientation relationships of adjacent martensitic variants and their twin interface characters in an incommensurate 7M modulated Ni–Mn–Ga alloy, from which a clear and full-featured image of the crystallographic nature of constituent twin interfaces is built up. Certainly, this new approach will make it feasible not only to generalize the statistical analysis of martensitic variant distributions for various materials with modulated superstructure, but also to give insight into the crystallographic characteristics of martensitic variant interfaces and the variant reorientation mechanism of new advanced materials for interface engineering.
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8

Le Page, Michael. "New variant gains ground". New Scientist 252, n.º 3362 (noviembre de 2021): 8. http://dx.doi.org/10.1016/s0262-4079(21)02091-1.

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9

PRIMROSE, D. A. "MUCOPOLYSACCHARIDOSIS: A NEW VARIANT?" Journal of Intellectual Disability Research 16, n.º 3 (28 de junio de 2008): 167–72. http://dx.doi.org/10.1111/j.1365-2788.1972.tb01173.x.

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10

Lang, C., J. Heckmann y B. Neundörfer. "New variant or iatrogenic?" Acta Neuropathologica 102, n.º 6 (3 de octubre de 2001): 645–46. http://dx.doi.org/10.1007/s004010000338.

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11

Brandl, Andrea Lindmayr. "Early Music Prints and New Technology: Variants and Variant Editions". Fontes Artis Musicae 64, n.º 3 (2017): 244–59. http://dx.doi.org/10.1353/fam.2017.0027.

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12

Yang, Xiaofei, Qingyu Kong, Cuifen Zhao, Zhifeng Cai y Minmin Wang. "New pathogenic variant of BMPR2 in pulmonary arterial hypertension". Cardiology in the Young 29, n.º 4 (abril de 2019): 462–66. http://dx.doi.org/10.1017/s1047951119000015.

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AbstractObjectives:The aim of this study was to evaluate the variant frequency of pulmonary arterial hypertension-related genes and provide theoretical basis for genetic screening of patients with pulmonary arterial hypertension further.Methods:Ten genes associated with pulmonary arterial hypertension were sequenced in 7 cases of idiopathic pulmonary arterial hypertension and 34 cases of congenital heart disease (CHD) associated with pulmonary arterial hypertension by next-generation high-throughput sequencing. Function prediction and gene variant amino acid conservation were carried out by bioinformatics software. Family study was performed on the patients with the variant.Results:A new bone morphogenetic protein receptor type 2(BMPR2) variant (c.344T>C, p. F115S) was discovered in a girl who was diagnosed with idiopathic pulmonary arterial hypertension. Her second aunt and third aunt carried the same variant and were confirmed as patients with pulmonary arterial hypertension as well. No variants or single nucleotide polymorphisms were found in other pulmonary arterial hypertension-associated genes.Conclusions:BMPR2 variant is the most common variant of pulmonary arterial hypertension. Genetic screening of BMPR2 variant and family survey in patients with pulmonary arterial hypertension is suggested for the sake of definite cause and better treatment.
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13

W, Gul. "Is Omicron, the New Variant, Deadlier than the Previous Strains?" Bioequivalence & Bioavailability International Journal 5, n.º 2 (2021): 1–2. http://dx.doi.org/10.23880/beba-16000157.

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14

Kapás, Judit. "NEW VARIANT OF THE FIRM: A MARKET‐LIKE FORM". Journal of Business Economics and Management 5, n.º 4 (31 de diciembre de 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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15

García Rabaneda, Carmen, María Luz Bellido Díaz, Ana Isabel Morales García, Antonio Miguel Poyatos Andújar, Juan Bravo Soto, Anita Dayaldasani Khialani, Margarita Martínez Atienza y Rafael Jose Esteban de la Rosa. "Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants". Journal of Clinical Medicine 13, n.º 6 (18 de marzo de 2024): 1751. http://dx.doi.org/10.3390/jcm13061751.

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Background: Our study aims to comment on all ADPKD variants identified in our health area and explain how they are distributed geographically, to identify new variants, and relate the more frequent variants with their renal phenotype in terms of kidney survival. Materials and Methods: We identified patients suffering from ADPKD in a specialized consultation unit; genealogical trees were constructed from the proband. According to the ultrasound-defined modified Ravine–Pei criteria, relatives classified as at risk were offered participation in the genetic study. Socio-demographic, clinical, and genetic factors related to the impact of the variant on the survival of the kidney and the patient, such as age at RRT beginning and age of death, were recorded. Results: In 37 families, 33 new variants of the PKD1 gene were identified, which probably produce a truncated protein. These variants included 2 large deletions, 19 frameshifts, and 12 stop-codons, all of which had not been previously described in the databases. In 10 families, six new probably pathogenic variants in the PKD2 gene were identified. These included three substitutions; two deletions, one of which was intronic and not associated with any family; and one duplication. A total of 11 missense variants in the PKD1 gene were grouped in 14 families and classified as probably pathogenic. We found that 33 VUS were grouped into 18 families and were not described in the databases, while another 15 were without grouping, and there was only 1 in the PKD2 gene. Some of these variants were present in patients with a different pathogenic variant (described or not), and the variant was probably benign. Renal survival curves were compared to nonsense versus missense variants on the PKD1 gene to check if there were any differences. A group of 328 patients with a nonsense variant was compared with a group of 264 with a missense variant; mean renal survival for truncated variants was lower (53.1 ± 0.46 years versus non-truncated variant 59.1 ± 1.36 years; Log Rank, Breslow, and Tarone Ware, p < 0.05). Conclusions: To learn more about ADPKD, it is necessary to understand genetics. By describing new genetic variants, we are approaching creation of an accurate genetic map of the disease in our country, which could have prognostic and therapeutic implications in the future.
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16

Piantham, Chayada y Kimihito Ito. "Predicting the Trajectory of Replacements of SARS-CoV-2 Variants Using Relative Reproduction Numbers". Viruses 14, n.º 11 (18 de noviembre de 2022): 2556. http://dx.doi.org/10.3390/v14112556.

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New variants of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with high effective reproduction numbers are continuously being selected by natural selection. To establish effective control measures for new variants, it is crucial to know their transmissibility and replacement trajectory in advance. In this paper, we conduct retrospective prediction tests for the variant replacement from Alpha to Delta in England, using the relative reproduction numbers of Delta with respect to Alpha estimated from partial observations. We found that once Delta’s relative frequency reached 0.15, the date when the relative frequency of Delta would reach 0.90 was predicted with maximum absolute prediction errors of three days. This means that the time course of the variant replacement could be accurately predicted from early observations. Together with the estimated relative reproduction number of a new variant with respect to old variants, the predicted replacement timing will be crucial information for planning control strategies against the new variant.
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17

Golubeva, Volha A., Thales C. Nepomuceno y Alvaro N. A. Monteiro. "Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation". Cancers 11, n.º 4 (12 de abril de 2019): 522. http://dx.doi.org/10.3390/cancers11040522.

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Genetic testing allows for the identification of germline DNA variations, which are associated with a significant increase in the risk of developing breast cancer (BC) and ovarian cancer (OC). Detection of a BRCA1 or BRCA2 pathogenic variant triggers several clinical management actions, which may include increased surveillance and prophylactic surgery for healthy carriers or treatment with the PARP inhibitor therapy for carriers diagnosed with cancer. Thus, standardized validated criteria for the annotation of BRCA1 and BRCA2 variants according to their pathogenicity are necessary to support clinical decision-making and ensure improved outcomes. Upon detection, variants whose pathogenicity can be inferred by the genetic code are typically classified as pathogenic, likely pathogenic, likely benign, or benign. Variants whose impact on function cannot be directly inferred by the genetic code are labeled as variants of uncertain clinical significance (VUS) and are evaluated by multifactorial likelihood models that use personal and family history of cancer, segregation data, prediction tools, and co-occurrence with a pathogenic BRCA variant. Missense variants, coding alterations that replace a single amino acid residue with another, are a class of variants for which determination of clinical relevance is particularly challenging. Here, we discuss current issues in the missense variant classification by following a typical life cycle of a BRCA1 missense variant through detection, annotation and information dissemination. Advances in massively parallel sequencing have led to a substantial increase in VUS findings. Although the comprehensive assessment and classification of missense variants according to their pathogenicity remains the bottleneck, new developments in functional analysis, high throughput assays, data sharing, and statistical models are rapidly changing this scenario.
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18

MOLINEAUX, L., H. H. DIEBNER, M. EICHNER, W. E. COLLINS, G. M. JEFFERY y K. DIETZ. "Plasmodium falciparum parasitaemia described by a new mathematical model". Parasitology 122, n.º 4 (abril de 2001): 379–91. http://dx.doi.org/10.1017/s0031182001007533.

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A new mathematical model of Plasmodium falciparum asexual parasitaemia is formulated and fitted to 35 malaria therapy cases making a spontaneous recovery after primary inoculation. Observed and simulated case-histories are compared with respect to 9 descriptive statistics. The simulated courses of parasitaemia are more realistic than any previously published. The model uses a discrete time-step of 2 days. Its realistic behaviour was achieved by the following combination of features (i) intra-clonal antigenic variation, (ii) large variations of the variants' baseline growth rate, depending on both variant and case, (iii) innate autoregulation of the asexual parasite density, variable among cases, (iv) acquired variant-specific immunity and (v) acquired variant-transcending immunity, variable among cases. Aspects of the model's internal behaviour, concerning variant dynamics, as well as the respective contributions of the three control mechanisms (iii) – (v), are displayed. Some implications for pathogenesis and control are discussed.
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19

Xu, Anping, Weidong Chen, Weijie Xie, Yajun Wang y Ling Ji. "Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population". Clinical Chemistry and Laboratory Medicine (CCLM) 59, n.º 1 (26 de enero de 2021): 227–32. http://dx.doi.org/10.1515/cclm-2020-0767.

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AbstractObjectivesHemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China.MethodsWe collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples.ResultsAmong the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia.ConclusionsThe prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.
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20

Usmani, Arif y Syeda Qasim. "Clear Cell Acanthoma: A Review of Clinical and Histologic Variants". Dermatopathology 7, n.º 2 (25 de agosto de 2020): 26–37. http://dx.doi.org/10.3390/dermatopathology7020005.

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Degos and Civatte first described clear cell acanthoma (CCA) in 1962 and later in a review article found that, in most instances, the lesion was a solitary red-brown dome-shaped papule that involved the distal lower extremity. The first morphologic variant of CCA was reported as a “giant form of the acanthoma of Degos” which measured 45 × 40 mm, about twice the size of the largest CCA documented earlier. Since then, many variants of CCA have been described, including polypoid, pigmented and atypical. Herein, we describe a new variant of CCA and add another example of the polypoid variant to the literature. The new variant exhibits cellular features of trichilemmoma but architecturally differs from it. We also attempt to broaden the list of CCA variants summarized by Tempark and Shwayder by adding ours and a few more examples of CCA. The new variants of CCA include verrucous, linear, subungual and trichilemmal.
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21

Walker, Emma C., Rashmi Ramani, Sarah Javati, Elizabeth Todd, Pallavi Chandra, John-Paul Matlam, Edgar Anaya, William Pomat y Sharon Celeste Morley. "A novel variant in ubiquinone biosynthesis highly prevalent in Papua New Guinea children increases mortality following bacterial pneumonia". Journal of Immunology 204, n.º 1_Supplement (1 de mayo de 2020): 231.5. http://dx.doi.org/10.4049/jimmunol.204.supp.231.5.

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Abstract To identify immune variants predisposing to severe pneumonia, we performed whole exome sequencing in a pediatric population highly susceptible to acute lower respiratory infections, identifying a candidate novel variant in the ubiquinone (CoQ10) biosynthetic pathway. To evaluate the effect of this variant on immune function during bacterial pneumonia, we generated a mouse line using CRISPR-Cas9 that expresses the homologous aspartate to tyrosine variant in the enzyme COQ6. Intra-tracheal S. pneumoniae infection leads to increased bacteremia and mortality in mice homozygous for the variant despite similar numbers of immune cells in the lung. Mechanistic studies show that macrophages expressing the variant have decreased mitochondrial activity at the ubiquinone-dependent reduction of cytochrome c by complex III, as well as decreased maximum respiratory capacity in response to acute stimulation. Variant-expressing macrophages also exhibit impaired generation of mitochondrial reactive oxygen species (mROS) causing a direct, intrinsic defect in intracellular killing of internalized bacteria. Thus, the novel variant in CoQ10 biosynthesis leads to changes in macrophage mitochondria and an intrinsic inability to kill internalized bacteria. As alveolar macrophages are the first responders in the lung to bacterial challenge, the inability of these macrophages to mount a sufficient immune response can explain the observed increase in mortality following bacterial pneumonia. Because variants in CoQ10 biosynthesis can be supplemented with CoQ10, a readily available therapy may be able to correct this defect and improve survival in children with this variant
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22

Ramani, KrishnaKumar, JameelRizwana Hussaindeen, Mithra Anand, Viswanathan Sivaraman y PeterM Allen. "Variant myopia: A new presentation?" Indian Journal of Ophthalmology 66, n.º 6 (2018): 799. http://dx.doi.org/10.4103/ijo.ijo_1115_17.

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23

Nicholas Russo, S., Ekta G. Shah, William C. Copeland y Mary Kay Koenig. "A new pathogenic POLG variant". Molecular Genetics and Metabolism Reports 32 (septiembre de 2022): 100890. http://dx.doi.org/10.1016/j.ymgmr.2022.100890.

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24

Wilson, Clare. "Testing for the new variant". New Scientist 253, n.º 3369 (enero de 2022): 9. http://dx.doi.org/10.1016/s0262-4079(22)00031-8.

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25

Jeon, Beom Seok. "New Variant Creutzfeldt-Jakob Disease". Journal of the Korean Medical Association 44, n.º 5 (2001): 483. http://dx.doi.org/10.5124/jkma.2001.44.5.483.

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26

Harne, Swapnil, Manish Pathak y Kamal Nayan Rattan. "New Variant of Esophageal Atresia". Journal of Neonatal Surgery 6, n.º 1 (31 de diciembre de 2016): 9. http://dx.doi.org/10.21699/jns.v6i1.464.

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Esophageal atresia with tracheoesophageal fistula (EA/TEF) associated with distal congenital esophageal stenosis (CES) is a well-known entity. We encountered three patients of EA/TEF associated with long and unusual CES.
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27

Swami, Meera. "A new PTEN translational variant". Nature Medicine 19, n.º 7 (julio de 2013): 827. http://dx.doi.org/10.1038/nm.3277.

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28

Elston, J. S. "A new variant of blepharospasm." Journal of Neurology, Neurosurgery & Psychiatry 55, n.º 5 (1 de mayo de 1992): 369–71. http://dx.doi.org/10.1136/jnnp.55.5.369.

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29

Suzuki, K. y H. Matsumoto. "A New BF Variant (F025)". Human Heredity 36, n.º 5 (1986): 336–38. http://dx.doi.org/10.1159/000153653.

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30

Stewart, Gillian E. y James W. Ironside. "New variant Creutzfeldt–Jakob disease". Current Opinion in Neurology 11, n.º 3 (junio de 1998): 259–62. http://dx.doi.org/10.1097/00019052-199806000-00012.

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31

Poser, S., I. Zerr y K. Felgenhauer. "New variant Creutzfeldt-Jakob disease". DMW - Deutsche Medizinische Wochenschrift 127, n.º 7 (2002): 331–34. http://dx.doi.org/10.1055/s-2002-20153.

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32

Ansell, Nicola, Elsbeth Robson, Flora Hajdu, Lorraine van Blerk y Lucy Chipeta. "The new variant famine hypothesis". Progress in Development Studies 9, n.º 3 (julio de 2009): 187–207. http://dx.doi.org/10.1177/146499340800900302.

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33

Will, R. "New variant creutzfeldt-jakob disease". Biomedicine & Pharmacotherapy 53, n.º 1 (febrero de 1999): 9–13. http://dx.doi.org/10.1016/s0753-3322(99)80054-7.

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34

Will, R. G. "The new variant of CJD". Transfusion Clinique et Biologique 6, n.º 1 (febrero de 1999): 30. http://dx.doi.org/10.1016/s1246-7820(99)80050-0.

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35

Boehm, Kevin M. y Amber Pugh. "A New Variant of Wiiitis". Journal of Emergency Medicine 36, n.º 1 (enero de 2009): 80. http://dx.doi.org/10.1016/j.jemermed.2007.11.104.

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36

Shakir, Ra'ad A. "New variant Creutzfeldt-Jakob disease". Journal of the Neurological Sciences 155, n.º 2 (marzo de 1998): 138–40. http://dx.doi.org/10.1016/s0022-510x(97)00302-x.

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37

Ironside, James W. "New-variant Creutzfeldt-Jakob disease". Neuropathology 18, n.º 2 (junio de 1998): 131–38. http://dx.doi.org/10.1111/j.1440-1789.1998.tb00091.x.

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38

Paillot, Romain, Gabrielle Sutton, Côme Thieulent, Christel Marcillaud-Pitel y Stéphane Pronost. "New EHV-1 variant identified". Veterinary Record 186, n.º 17 (25 de mayo de 2020): 573.1–573. http://dx.doi.org/10.1136/vr.m1441.

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39

&NA;. "An update on new-variant". Advances in Anatomic Pathology 4, n.º 6 (noviembre de 1997): 383. http://dx.doi.org/10.1097/00125480-199711000-00037.

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Aiello, V., N. Ricci, P. Palazzi, G. D'Agostino, G. Azzini y E. Calzolari. "New variant of chromosome 11". American Journal of Medical Genetics 50, n.º 3 (15 de abril de 1994): 294–95. http://dx.doi.org/10.1002/ajmg.1320500314.

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41

Gordon, N. "NEW VARIANT CREUTZFELDT‐JAKOB DISEASE". International Journal of Clinical Practice 53, n.º 6 (septiembre de 1999): 456–59. http://dx.doi.org/10.1111/j.1742-1241.1999.tb11773.x.

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42

M, Kulshreshtha. "Omicron; New COVID-19 Strain". Bioequivalence & Bioavailability International Journal 7, n.º 2 (4 de julio de 2023): 1–3. http://dx.doi.org/10.23880/beba-16000200.

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After the few years of COVID -19, Omicron has reported as a new variant found in the Botswana. Some studies have reported that it is much milder then COVID-19. Symptoms include cough, fatigue, loss of smell, runny nose etc. It is not clear that Omicron can transfer from one person to another. Treatment is not clear. This short view is my best collection of published scientific data on Omicron till now. It also includes the origin, epidemiological data, and treatment etc. of new variant.
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43

Maheshwari, Shubhrat y Aditya Singh. "Delta plus: A New Variant of Corona Virus". International Journal of Pharma Professional’s Research (IJPPR) 14, n.º 2 (20 de mayo de 2023): 73–79. http://dx.doi.org/10.48165/ijppronline.2023.14207.

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The Delta plus variant, often known as the K417N mutation, is a Covid-19 viralariant. K417N was initially discovered in India in April 2021 and was first announced in the public health England bulletin on June 11th. The report was released in order to continue sharing detailed Delta surveillance information (VOC-21APR-02, B.1.617.2). Delta plus has also been discovered in nine other nations, including the United States, the United Kingdom, Portugal, Switzerland, Japan, Poland, Nepal, Russia, and China. On the Coronavirus spike, the Delta plus variation has an extra mutation termed K417N, which has been detected in South Africa and Brazil also. Delta plus may have a modest advantage in infecting and propagating among those who have already been infected. The Indian variety of SARS CoV-2, also known as B.1.617, is a Coronavirus variant that had a key role in India's second wave of infection. B.1.617 has three noteworthy sub variants. B.1.617.2, which was detected in India in December 2020, is the most concerning. In December 2020, a new sub-variant known as B.1.617.1 was discovered for the first time in India. B.1.617.1 was found in 50% of all reported sequences by late March, but the proportion dropped in April. B.1.617.1 is known as the "Indian double mutant," although this label is misleading because it has about 15 mutations when compared to older variants." The term "double mutant" refers to the presence of two mutations in the outer spike protein of the bacterium.
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44

Strasser, Zachary H., Noah Greifer, Aboozar Hadavand, Shawn N. Murphy y Hossein Estiri. "Estimates of SARS-CoV-2 Omicron BA.2 Subvariant Severity in New England". JAMA Network Open 5, n.º 10 (25 de octubre de 2022): e2238354. http://dx.doi.org/10.1001/jamanetworkopen.2022.38354.

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ImportanceThe SARS-CoV-2 Omicron subvariant, BA.2, may be less severe than previous variants; however, confounding factors make interpreting the intrinsic severity challenging.ObjectiveTo compare the adjusted risks of mortality, hospitalization, intensive care unit admission, and invasive ventilation between the BA.2 subvariant and the Omicron and Delta variants, after accounting for multiple confounders.Design, Setting, and ParticipantsThis was a retrospective cohort study that applied an entropy balancing approach. Patients in a multicenter inpatient and outpatient system in New England with COVID-19 between March 3, 2020, and June 20, 2022, were identified.ExposuresCases were assigned as being exposed to the Delta (B.1.617.2) variant, the Omicron (B.1.1.529) variant, or the Omicron BA.2 lineage subvariants.Main Outcomes and MeasuresThe primary study outcome planned before analysis was risk of 30-day mortality. Secondary outcomes included the risks of hospitalization, invasive ventilation, and intensive care unit admissions.ResultsOf 102 315 confirmed COVID-19 cases (mean [SD] age, 44.2 [21.6] years; 63 482 women [62.0%]), 20 770 were labeled as Delta variants, 52 605 were labeled as the Omicron B.1.1.529 variant, and 28 940 were labeled as Omicron BA.2 subvariants. Patient cases were excluded if they occurred outside the prespecified temporal windows associated with the variants or had minimal longitudinal data in the Mass General Brigham system before COVID-19. Mortality rates were 0.7% for Delta (B.1.617.2), 0.4% for Omicron (B.1.1.529), and 0.3% for Omicron (BA.2). The adjusted odds ratio of mortality from the Delta variant compared with the Omicron BA.2 subvariants was 2.07 (95% CI, 1.04-4.10) and that of the original Omicron variant compared with the Omicron BA.2 subvariant was 2.20 (95% CI, 1.56-3.11). For all outcomes, the Omicron BA.2 subvariants were significantly less severe than that of the Omicron and Delta variants.Conclusions and RelevanceIn this cohort study, after having accounted for a variety of confounding factors associated with SARS-CoV-2 outcomes, the Omicron BA.2 subvariant was found to be intrinsically less severe than both the Delta and Omicron variants. With respect to these variants, the severity profile of SARS-CoV-2 appears to be diminishing after taking into account various factors including therapeutics, vaccinations, and prior infections.
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Garcia Brás, Pedro, Isabel Cardoso, José Viegas, Diana Antunes y Sílvia Aguiar Rosa. "Sudden Cardiac Death in Biventricular Arrhythmogenic Cardiomyopathy: A New Undescribed Variant of the MYH6 Gene". Cardiogenetics 13, n.º 4 (23 de octubre de 2023): 145–53. http://dx.doi.org/10.3390/cardiogenetics13040014.

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Arrhythmogenic cardiomyopathy (ACM) may present with sudden cardiac arrest (SCA), and demonstration of a pathogenic variant in ACM-related genes is crucial for its definitive diagnosis. A 42-year-old female patient with family history of sudden cardiac death (SCD) was referred to the cardiomyopathy clinic after two episodes of aborted SCA. In the second episode, the patient was transported under cardiopulmonary resuscitation (downtime of 57 min) until extracorporeal membrane oxygenation was implanted. A thorough diagnostic work-up led to a diagnosis of biventricular ACM. Genetic testing revealed a previously undescribed variant in ACM patients in the MYH6 gene, c.3673G>T p.(Glu 1225*), which inserts a premature stop codon. This was considered a possible pathogenic variant originating a truncated protein, previously undescribed in ACM. The patient’s 23-year-old daughter was positive for the MYH6 variant and had ECG abnormalities suggestive of ACM. This case details the complex differential diagnosis of SCA and explores the current recommendations for the diagnosis of biventricular ACM. The identification of a MYH6 variant in a patient with ACM, recurrent SCA, and family history of SCD appears to support the hypothesis of the pathogenicity of MYH6 variants in ACM, in which the association of phenotype with sarcomere variants is still unclear.
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Jessen, Randi, Line Nielsen, Nicolai Balle Larsen, Arieh Sierra Cohen, Vithiagaran Gunalan, Ellinor Marving, Alonzo Alfaro-Núñez, Charlotta Polacek, Anders Fomsgaard y Katja Spiess. "A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern". PLOS ONE 17, n.º 10 (5 de octubre de 2022): e0274889. http://dx.doi.org/10.1371/journal.pone.0274889.

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Fast surveillance strategies are needed to control the spread of new emerging SARS-CoV-2 variants and gain time for evaluation of their pathogenic potential. This was essential for the Omicron variant (B.1.1.529) that replaced the Delta variant (B.1.617.2) and is currently the dominant SARS-CoV-2 variant circulating worldwide. RT-qPCR strategies complement whole genome sequencing, especially in resource lean countries, but mutations in the targeting primer and probe sequences of new emerging variants can lead to a failure of the existing RT-qPCRs. Here, we introduced an RT-qPCR platform for detecting the Delta- and the Omicron variant simultaneously using a degenerate probe targeting the key ΔH69/V70 mutation in the spike protein. By inclusion of the L452R mutation into the RT-qPCR platform, we could detect not only the Delta and the Omicron variants, but also the Omicron sub-lineages BA.1, BA.2 and BA.4/BA.5. The RT-qPCR platform was validated in small- and large-scale. It can easily be incorporated for continued monitoring of Omicron sub-lineages, and offers a fast adaption strategy of existing RT-qPCRs to detect new emerging SARS-CoV-2 variants using degenerate probes.
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47

Nugraha, Bharmatisna Anggaharsya. "Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health". Open Access Indonesian Journal of Medical Reviews 1, n.º 6 (15 de octubre de 2021): 135–40. http://dx.doi.org/10.37275/oaijmr.v1i6.56.

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Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.
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48

Nugraha, Bharmatisna Anggaharsya. "Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health". Natural Sciences Engineering and Technology Journal 1, n.º 1 (13 de agosto de 2021): 23–28. http://dx.doi.org/10.37275/nasetjournal.v1i1.5.

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Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology
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49

Nugraha, Bharmatisna Anggaharsya. "Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health". Open Access Indonesian Journal of Medical Reviews 1, n.º 6 (31 de agosto de 2021): 135–45. http://dx.doi.org/10.37275/oaijmr.v1i6.575.

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Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.
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50

Vechorko, V. I., O. V. Averkov y A. A. Zimin. "New SARS-CoV-2 Omicron variant — clinical picture, treatment, prevention (literature review)". Cardiovascular Therapy and Prevention 21, n.º 6 (7 de julio de 2022): 3228. http://dx.doi.org/10.15829/1728-8800-2022-3228.

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Despite the decrease in the incidence rate, today the problem of a coronavirus disease 2019 (COVID-19) remains relevant on a global scale. Among the Severe Acute Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) variants, the Omicron is currently dominant. The differentiating properties of the Omicron variant are a shorter incubation period (1-5 days), high contagiousness, and a relatively mild course of the disease, which is associated with the highest number of genome mutations among all SARS-CoV-2 variants. The new variant is characterized by upper respiratory tract symptoms: rhinorrhea, severe sore throat, sneezing, less commonly cough, headache, and weakness. Oral antiviral drugs Paxlovid and Molnupiravir are effective for treating mild to moderate COVID-19, including in outpatients. While corticosteroids and interleukin-6 receptor antagonists are still effective in treating patients with moderate to severe COVID-19, the effectiveness of anti-SARS-CoV-2 monoclonal antibodies has not yet been fully proven. Vaccination, especially booster doses, against SARS-CoV-2 is the most effective method of preventing COVID-19. The review purpose was to analyze the literature to determine the key aspects of prevention, clinical picture and treatment of a new SARSCoV-2 Omicron variant. The work used publications for the period from November 2021 to February 25, 2022, dedicated to the prevention, diagnosis and treatment of COVID-19 caused by the Omicron variant from the following databases: PubMed, eLibrary, MedRxiv, Google Scholar. The following key words were used: “Omicron”, “SARS CoV-2”, “COVID-19”, “Omicron treatment”. The analysis showed that COVID-19 caused by the Omicron variant is characterized by a relatively mild course. However, due to high contagiousness, this variant poses a significant problem due to the excessive load on outpatient and inpatient healthcare, including intensive care units.
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