• Title/Summary/Keyword: common variant

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Endovascular treatment for anterior inferior cerebellar artery-posterior inferior cerebellar artery (AICA-PICA) common trunk variant aneurysms: Technical note and literature review

  • Jerry C. Ku;Vishal Chavda;Paolo Palmisciano;Christopher R. Pasarikovski;Victor X.D. Yang;Ruba Kiwan;Stefano M. Priola;Bipin Chaurasia
    • Journal of Cerebrovascular and Endovascular Neurosurgery
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    • v.25 no.4
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    • pp.452-461
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    • 2023
  • The Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery (AICA-PICA) common trunk is a rare variant of cerebral posterior circulation in which a single vessel originating from either the basilar or vertebral arteries supplies both cerebellum and brainstem territories. We present the first case of an unruptured right AICA-PICA aneurysm treated with flow diversion using a Shield-enhanced pipeline endovascular device (PED, VANTAGE Embolization Device with Shield Technology, Medtronic, Canada). We expand on this anatomic variant and review the relevant literature. A 39-year-old man presented to our treatment center with vertigo and right hypoacusis. The initial head CT/CTA was negative, but a 4-month follow-up MRI revealed a 9 mm fusiform dissecting aneurysm of the right AICA. The patient underwent a repeat head CTA and cerebral angiogram, which demonstrated the presence of an aneurysm on the proximal portion of an AICA-PICA anatomical variant. This was treated with an endovascular approach that included flow diversion via a PED equipped with Shield Technology. The patient's post-procedure period was uneventful, and he was discharged home after two days with an intact neurological status. The patient is still asymptomatic after a 7-month follow-up, with MR angiogram evidence of stable aneurysm obliteration and no ischemic lesions. Aneurysms of the AICA-PICA common trunk variants have a high morbidity risk due to the importance and extent of the territory vascularized by a single vessel. Endovascular treatment with flow diversion proved to be both safe and effective in obliterating unruptured cases.

Mathematical modeling of the impact of Omicron variant on the COVID-19 situation in South Korea

  • Oh, Jooha;Apio, Catherine;Park, Taesung
    • Genomics & Informatics
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    • v.20 no.2
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    • pp.22.1-22.9
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    • 2022
  • The rise of newer coronavirus disease 2019 (COVID-19) variants has brought a challenge to ending the spread of COVID-19. The variants have a different fatality, morbidity, and transmission rates and affect vaccine efficacy differently. Therefore, the impact of each new variant on the spread of COVID-19 is of interest to governments and scientists. Here, we proposed mathematical SEIQRDVP and SEIQRDV3P models to predict the impact of the Omicron variant on the spread of the COVID-19 situation in South Korea. SEIQEDVP considers one vaccine level at a time while SEIQRDV3P considers three vaccination levels (only one dose received, full doses received, and full doses + booster shots received) simultaneously. The omicron variant's effect was contemplated as a weighted sum of the delta and omicron variants' transmission rate and tuned using a hyperparameter k. Our models' performances were compared with common models like SEIR, SEIQR, and SEIQRDVUP using the root mean square error (RMSE). SEIQRDV3P performed better than the SEIQRDVP model. Without consideration of the variant effect, we don't see a rapid rise in COVID-19 cases and high RMSE values. But, with consideration of the omicron variant, we predicted a continuous rapid rise in COVID-19 cases until maybe herd immunity is developed in the population. Also, the RMSE value for the SEIQRDV3P model decreased by 27.4%. Therefore, modeling the impact of any new risen variant is crucial in determining the trajectory of the spread of COVID-19 and determining policies to be implemented.

Controlling Linkage Disequilibrium in Association Tests: Revisiting APOE Association in Alzheimer's Disease

  • Park, Lee-Young
    • Genomics & Informatics
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    • v.5 no.2
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    • pp.61-67
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    • 2007
  • The allele frequencies of markers as well as linkage disequilibrium (LD) can be changed in cases due to the LD between markers and the disease allele, exhibiting spurious associations of markers. To identify the true association, classical statistical tests for dealing with confounders have been applied to draw a conclusion as to whether the association of variants comes from LD with the known disease allele. However, a more direct test considering LD using estimated haplotype frequencies may be more efficient. The null hypothesis is that the different allele frequencies of a variant between cases and controls come solely from the increased disease allele frequency and the LD relationship with the disease allele. The haplotype frequencies of controls are estimated using the expectation maximization (EM) algorithm from the genotype data. The estimated frequencies are applied to calculate the expected haplotype frequencies in cases corresponding to the increase or decrease of the causative or protective alleles. The suggested method was applied to previously published data, and several APOE variants showed association with Alzheimer's disease independent from the APOE ${\varepsilon}4$ variant, rs429358, regardless of LD showing significant simulated p-values. The test results support the possibility that there may be more than one common disease variant in a locus.

Morphological and morphometric study of pulmonary vein anatomy in relation to cardiac invasive and electrophysiological procedures

  • Harshal Oza;Bhavik Doshi
    • Anatomy and Cell Biology
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    • v.56 no.4
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    • pp.428-434
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    • 2023
  • Pulmonary veins (PVs) and their myocardial sleeves play an important role in the development of atrial fibrillation. Hence, detailed knowledge of PV anatomy is required to improve the procedural success rate and prevent complications during cardiac procedures. The aim of this study was to evaluate the PV anatomy along with anatomical variations in the Indian population. Total 100 formalin fixed cadaveric hearts were examined. The number and pattern of the PVs were observed along with the measurement of their horizontal and vertical diameters. The ovality index for each PV was calculated. Classical PV pattern was observed in 62% cases. Variant pattern like additional right middle PV pattern and left common PV pattern were found in 20% and 10% cases respectively. A separate pattern with presence of both right middle PV and left common PV was observed in 6% cases. In the classical pattern right superior PV was the largest followed by right inferior, left superior and left inferior PV. The additional right middle PV had the smallest diameter whereas the left common PV had the largest diameter. Almost all the veins had greater vertical diameters in comparison to horizontal diameters. The variant PVs were oval and had greater ovality index compared to the normal PVs. In classical pattern 54.8% hearts whereas in variant pattern 79% hearts had one or more oval PV. The given data can help clinicians for planning and execution of various interventional and electrophysiological procedures involving PVs.

Fine Needle Aspiration Cytology of Columnar Cell Variant of Papillary Carcinoma of the Thyroid - A Case Report - (갑상선의 원주세포형 유두상 암종의 세침흡인 세포학적 소견 - 1예 보고 -)

  • Jung, Ji-Han;Kang, Chang-Suk;Shim, Sang-In;Kim, Byung-Kee;Lee, Kyo-Young
    • The Korean Journal of Cytopathology
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    • v.10 no.2
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    • pp.179-184
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    • 1999
  • The columnar cell variant of papillary carcinoma is a rare tumor of the thyroid, associated with aggressive behavior, early metastasis, and a rapidly fatal course. We present the fine needle aspiration cytologic(FNAC) findings of columnar ceil variant of papillary carcinoma with cytohistologic correlation. In the smears, the tumor fragments showed mainly papillary pattern and a few scattered individual cells were present around the papillary fragments. The tumor cells were columnar or cuboidal and exhibited pseudostratification of the nuclei. The nuclei were oval to elongated with finely stippled chromatin and inconspicous nucleoli. Neither nuclear grooves nor intracytoplasmic inclusion was found. The FNAC diagnosis was consistent with papillary carcinoma. Total thyroidectomy was done and the histologic finding of the mass showed a predominantly papillary and focal solid proliferation of columar cells with marked nuclear pseudostratification. The unique histopathologic features and highly aggressive nature of columnar ceil variant of papillary carcinoma require that this variant should be differeniated from common papillary carcinoma of the thyroid.

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The Study of Synergy between the BchE-k Variant and the ApoE Gene in the Alzheimer Dementia of the Korean Population

  • Shin, Eun-Sim;Yoon, Song-Ro;Choi, Soo-Kyung;Kim, Soo-Young
    • Journal of Genetic Medicine
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    • v.3 no.1
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    • pp.29-32
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    • 1999
  • The Apolipoprotein E type 4 allele (ApoE ${\varepsilon}4$) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease. The BchE-k variant, which is the common variant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the ${\varepsilon}4$ allele of the ApoE, especially in subjects over the age of 75. This study was performed to evaluate the distribution of the ApoE and the BchE genotypes in the healthy and AD groups and to evaluate the synergy between the BchE-k variant and the ApoE ${\varepsilon}4$ in AD. The ApoE and the BchE genotypes were determined in DNA samples from 610 healthy people and 60 LOAD patients by using ARMS by standard agarose gel electrophoresis. The effect of the ApoE ${\varepsilon}4$ was closely related to AD(p<0.05). A comparison between the AD patients and the healthy individuals, both with the ${\varepsilon}4$ allele, indicated an interaction between the BchE-k and the ApoE ${\varepsilon}4$(p<0.05). The association of the BchE-k with AD was limited to carriers of the ApoE ${\varepsilon}4$ allele, among whom the presence of the BchE-k gave an odds ratio of AD 3.48 (95% C.I. 1.3-9.2). Therefore, these results suggested that further evidence of an association between the ApoE ${\varepsilon}4$ and LOAD, and the BchE-k acts in synergy with the ApoE ${\varepsilon}4$ as a susceptibility gene for AD.

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COMMON FIXED POINT RESULTS VIA F-CONTRACTION ON C* -ALGEBRA VALUED METRIC SPACES

  • Shivani Kukreti;Gopi Prasad;Ramesh Chandra Dimri
    • Korean Journal of Mathematics
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    • v.31 no.4
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    • pp.391-403
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    • 2023
  • In this work, we establish common fixed point results by utilizing a variant of F-contraction in the framework of C*-algebra valued metric spaces. We utilize E.A. and C.L.R. property possessed by the mappings to prove common fixed point results in the same metric settings. To validate the applicability of these common fixed point results, we provide illustrative examples too.

Novel variants of IDS gene, c.1224_1225insC, and recombinant variant of IDS gene, c.418+495_1006+1304del, in Two Families with Mucopolysaccharidosis type II

  • Cheon, Chong Kun
    • Journal of Interdisciplinary Genomics
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    • v.1 no.1
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    • pp.6-9
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    • 2019
  • In this report, the phenotypes of three patients from two families with mucopolysaccharidosis type II (MPS II) are compared: a novel variant and recombinant variant of IDS gene. The results of urine in patients showed a pronounced increase in glycosaminoglycan excretion with decreased iduronate-2-sulfatase enzyme activity in leukocyte, leading to a diagnosis of MPS II. A patient has a novel variant with 1 bp small insertion, c.1224_1225insC in exon 9, which caused frameshifts with a premature stop codon, and two patients have a recombination variant, c.418+495_1006+1304del, leading to the loss of exons 4, 5, 6, and 7 in genomic DNA, which is relatively common in Korean patients. They had different phenotypes even in the same mutation. The patients have now been enzyme replacement therapy with a significant decrease in glycosaminoglycan excretion. Further study on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between phenotypes in MPS II and gene mutations.

Helicobactericidal Activity of Cissus quadrangularis L. Variant I

  • Austin, Anoop;M, Jegadeesan;R., Gowrishankar
    • Natural Product Sciences
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    • v.10 no.5
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    • pp.217-219
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    • 2004
  • Cissus quadrangularis L. variant I (Family: Vitaceae), the common variant with square stem is widely used for peptic ulcer disorders (PUD) in traditional medicine. Aerial parts were collected during flowering and vegetative seasons and analysed. Aqueous (hot and cold) and solvent extracts (acetone, chloroform and ethanol) were screened for their anti-Helicobacter pylori (Hp) activities. Among them chloroform extract was observed to recover bioactive principles markedly with low minimal inhibitory concentration (MIC) and minimal lethal concentration (MLC). MIC was $30\;{\mu}g$ in both samples and MLC was $35\;{\mu}g$ for vegetative and $30\;{\mu}g$ for flowering seasons, respectively. Extracts from samples collected during flowering season were better than thse of vegetative season.

Screening for variations in anterior digastric musculature prior to correction of post-traumatic anterior open bite by injection of botulinum toxin type A: a technical note

  • Zdilla, Matthew J.
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.41 no.3
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    • pp.165-167
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    • 2015
  • It has recently been reported that long-standing post-traumatic open bite can be successfully corrected with botulinum toxin type A (BTX-A) injection into the anterior belly of the digastric muscle (ABDM). The report documented an individual with bilaterally symmetrical and otherwise unremarkable anterior digastric musculature. However, the existence of variant anterior digastric musculature is common and may complicate the management of anterior open bite with BTX-A injection. Screening for variant ABDM can be accomplished via ultrasound, computed tomography, and magnetic resonance imaging. Screening for variant ABDM should be performed prior to BTX-A injection in order to account for musculature that may exert undesired forces, such as inferolateral deviation, on the anterior mandible in patients with anterior open bite.