• Title/Summary/Keyword: Anatomical variants

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Genome analysis of Yucatan miniature pigs to assess their potential as biomedical model animals

  • Kwon, Dae-Jin;Lee, Yeong-Sup;Shin, Donghyun;Won, Kyeong-Hye;Song, Ki-Duk
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.2
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    • pp.290-296
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    • 2019
  • Objective: Pigs share many physiological, anatomical and genomic similarities with humans, which make them suitable models for biomedical researches. Understanding the genetic status of Yucatan miniature pigs (YMPs) and their association with human diseases will help to assess their potential as biomedical model animals. This study was performed to identify non-synonymous single nucleotide polymorphisms (nsSNPs) in selective sweep regions of the genome of YMPs and present the genetic nsSNP distributions that are potentially associated with disease occurrence in humans. Methods: nsSNPs in whole genome resequencing data from 12 YMPs were identified and annotated to predict their possible effects on protein function. Sorting intolerant from tolerant (SIFT) and polymorphism phenotyping v2 analyses were used, and gene ontology (GO) network and Kyoto encyclopedia of genes and genomes (KEGG) pathway analyses were performed. Results: The results showed that 8,462 genes, encompassing 72,067 nsSNPs were identified, and 118 nsSNPs in 46 genes were predicted as deleterious. GO network analysis classified 13 genes into 5 GO terms (p<0.05) that were associated with kidney development and metabolic processes. Seven genes encompassing nsSNPs were classified into the term associated with Alzheimer's disease by referencing the genetic association database. The KEGG pathway analysis identified only one significantly enriched pathway (p<0.05), hsa04080: Neuroactive ligand-receptor interaction, among the transcripts. Conclusion: The number of deleterious nsSNPs in YMPs was identified and then these variants-containing genes in YMPs data were adopted as the putative human diseases-related genes. The results revealed that many genes encompassing nsSNPs in YMPs were related to the various human genes which are potentially associated with kidney development and metabolic processes as well as human disease occurrence.

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.

Prevalence and clinical relevance of the anatomical variations of suprarenal arteries: a review

  • Ananya Priya;Ravi Kant Narayan;Sanjib Kumar Ghosh
    • Anatomy and Cell Biology
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    • v.55 no.1
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    • pp.28-39
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    • 2022
  • The suprarenal arteries are arising from three sources: superior suprarenal artery, middle suprarenal artery, and inferior suprarenal artery. Variations in the arterial supply of the suprarenal glands in respect to origin and number are quite common and very frequently reported. The most common variation noted is in the inferior suprarenal artery followed by the middle suprarenal artery and the least common variations were observed in the superior suprarenal artery. Arteriogram of the inferior suprarenal artery is crucial in suprarenal tumour diagnosis but variation in the branching pattern and multiplicity of these arteries can cause hindrance in arteriography. The absence of middle suprarenal artery was seen to be associated with increased number of the inferior suprarenal artery. Variation in the multiplicity of arteries was observed more frequently in the inferior suprarenal artery and middle suprarenal artery which was more on the right side in most of the studies. Also, the variation in suprarenal arteries was often correlated to variations in inferior phrenic and gonadal arteries. The variations were observed to be more common on the left side therefore right adrenalectomy should be preferred over the left one. The loop formed by the inferior suprarenal artery around the right renal vein can cause venous obstruction. These variations of suprarenal vasculature are explained on the developmental basis, and prior knowledge of such variants is crucial for nephrologists to ensure minimum blood loss while performing laparoscopic adrenalectomy especially for large adrenal tumours and pheochromocytoma where the duration of surgery exceeds the usual.

A Rare Case of Acquired Arteriovenous Malformation in Transarterial Chemoembolization for Hepatocellular Carcinoma (간세포암의 경동맥 화학색전술 중 발견된 후천성 동정맥 기형에 관한 드문 증례보고)

  • Moon, Sung-Nam;Seo, Sang-Hyun
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.20 no.3
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    • pp.188-193
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    • 2019
  • Transarterial chemoembolization (TACE) is a commonly used and rapidly evolving non-invasive treatment for hepatocellular carcinoma (HCC). It is important that understanding individual anatomical variants and planning for tumor-feeding artery access to acquire adequate treatment effectiveness. In this study, we will report acquired arteriovenous malformation which interferes with TACE for HCC. A 72-year-old man with persistent abdominal pain for 2 days visited our hospital. The patient was chronic hepatitis B carrier and had a history of HCC treated with conventional TACE 10 years ago. Hypervascular nodular HCC in the liver segment 8 and aberrant right hepatic artery from the superior mesenteric artery were detected on computed tomography (CT). When first TACE was performed, the tumor-feeding artery originating from the left hepatic artery was found and embolized. There was no tumor-feeding artery from the right hepatic artery but arteriovenous malformation was found. After a month, follow up CT showed necrotic lesion and residual HCC and we performed secondary TACE. On secondary TACE, we selected the right hepatic artery and passed through arteriovenous malformation. Superselective-angiogram showed remnant tumoral staining and remnant tumor was embolized using drug-eluting bead and Adriamycin. Final angiogram showed no remnant tumoral staining and the patient was discharged without complication. We found the rare case of arteriovenous malformation adjacent to HCC, and we performed superselective TACE beyond arteriovenous malformation to treat HCC.