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Fibromuscular dysplasia

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https://www.readbyqxmd.com/read/29448245/a-genetic-variant-associated-with-the-five-vascular-diseases-is-a-distal-regulator-of-endothelin-1-gene-expression
#1
Ernesto L Schiffrin
Gupta et al. [Cell 2017; 170: 522-533] have shown that a genetic variant associated with the 5 vascular diseases is a distal regulator of endothelin (ET)-1 gene (EDN1) expression. A common single nucleotide polymorphism (SNP) in the third intron of the PHACTR1 gene, rs9349379, is the potential variant responsible for increased risk of coronary artery disease, and lower risk of migraine, carotid dissection, fibromuscular dysplasia, and hypertension. Since ET-1 acts through ET type B receptors (ETBR) on endothelial cells to stimulate the production of nitric oxide and prostacyclin and induce vasodilation, this may contribute to these findings...
February 15, 2018: Nephron
https://www.readbyqxmd.com/read/29421412/right-subclavian-artery-aneurysms-with-fibromuscular-dysplasia
#2
Daisuke Kaneyuki, Hideki Ueda, Goro Matsumiya
Subclavian artery aneurysms are rare and even more uncommon in patients with fibromuscular dysplasia. A 20-year-old man with a past medical history of moyamoya disease, presented with an abnormal mass shadow in the apex of the right lung on chest x-ray. Based on computed tomography imaging, a diagnosis of right subclavian artery aneurysm was established and an excision of the aneurysm was performed. Since the left vertebral artery is dominant, the proximal and distal right subclavian artery and right vertebral artery were clamped...
February 5, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29398271/tread-carefully-a-functional-variant-in-the-human-nadph-oxidase-4-nox4-is-not-disease-causing
#3
Michael Nafisinia, Minal Juliet Menezes, Wendy Anne Gold, Lisa Riley, Joshua Hatch, John Cardinal, David Coman, John Christodoulou
In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES) was used followed by functional studies in a bid to confirm pathogenicity. The WES we identified a homozygous novel variant, AK298328; c...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29390277/a-rare-case-report-of-bilateral-common-and-internal-iliac-arterial-fibromuscular-dysplasia-coexisted-dissection-aneurysm-and-stenosis
#4
Luyun Fan, Wenjun Ma, Huimin Zhang, Jun Cai
RATIONALE: Iliac arterial fibromuscular dysplasia (FMD) was rarely reported and its demographic, clinical, and imaging features have not been precisely described resulting in uncertain therapeutic methods. PATIENT CONCERNS: A 31-year-old man was referred because of 3-month-ago onset hypertension, low serum potassium, and a small-sized right kidney with normal renal artery under ultrasound examination. This patient was suspected of primary aldosteronism, whereas spirolactone was poorly effective...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29359368/b-flow-and-b-mode-ultrasound-imaging-in-carotid-fibromuscular-dysplasia
#5
Joshua J Cutler, Nelly Campo, Sebastian Koch
BACKGROUND AND PURPOSE: Previous ultrasound studies in fibromuscular dysplasia (FMD) have largely reported on color flow imaging, power Doppler, and Doppler flow augmentation. We here report on arterial wall imaging findings by B-flow and B-mode in patients with carotid FMD. METHODS: We retrospectively reviewed ultrasonographic findings in subjects with known or suspected FMD. All patients were evaluated with a standardized imaging protocol including Doppler, B-mode, and B-flow...
January 23, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29331613/internal-carotid-artery-web-as-the-cause-of-recurrent-cryptogenic-ischemic-stroke
#6
Jon Antigüedad-Muñoz, Patricia de la Riva, Gorka Arenaza Choperena, Amaia Muñoz Lopetegi, Naiara Andrés Marín, Gorka Fernández-Eulate, Manuel Moreno Valladares, Maite Martínez Zabaleta
Carotid artery web is considered an exceptional cause of recurrent ischemic strokes in the affected arterial territory. The underlying pathology proposed for this entity is an atypical fibromuscular dysplasia. We present the case of a 43-year-old woman with no cardiovascular risk factors who had experienced 2 cryptogenic ischemic strokes in the same arterial territory within an 11-month period. Although all diagnostic tests initially yielded normal results, detailed analysis of the computed tomography angiography images revealed a carotid web; catheter angiography subsequently confirmed the diagnosis...
January 10, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29317976/postpartum-sudden-cardiac-death-after-spontaneous-coronary-artery-dissection-in-a-patient-with-fibromuscular-dysplasia
#7
Tannaz Shoja, Craig Basman, Suresh Jain, Aditya Mangla, Zoran Lasic
Spontaneous coronary artery dissection (SCAD) is a rare entity that can cause acute myocardial infarction and sudden cardiac death (SCD) which often goes unrecognized. We report a case of SCAD in a young postpartum female who presented with sudden cardiac arrest. The patient was managed medically and found to have fibromuscular dysplasia (FMD). After being stabilized in the critical care unit, coronary angiography was performed which showed dissection of the left main artery, intramural hematoma, and the culprit lesion...
December 2017: Cardiology Research
https://www.readbyqxmd.com/read/29275928/spontaneous-coronary-artery-dissection-scad-the-underdiagnosed-cardiac-condition-that-plagues-women
#8
REVIEW
Sandrine Lebrun, Rachel M Bond
Coronary heart disease (CHD) continues to be understudied, underdiagnosed, and undertreated in women. Gender and age bias complicate the evaluation of women with acute coronary syndrome (ACS). As a result, conditions like spontaneous coronary artery dissection (SCAD) are often missed. SCAD is an infrequent yet important cause of myocardial infarction (MI) with a predilection for young to middle aged women. The condition is thought to be under-reported, likely a result of both low index of suspicion as well as an unfamiliarity with SCAD's angiographic variants...
December 11, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29274451/treatment-of-progressive-herpes-zoster-induced-vasculopathy-with-surgical-revascularization-effects-on-cerebral-hemodynamics
#9
Sarah K Lants, Jennifer M Watchmaker, Meher R Juttukonda, Larry T Davis, Manus J Donahue, Matthew R Fusco
BACKGROUND: Herpes zoster ophthalmicus (HZO) is caused by the reactivation of the herpes simplex virus in the trigeminal nerve. HZO-initiated cerebral vasculopathy is well-characterized, however there are no documented cases that report the efficacy of surgical revascularization for improving cerebral hemodynamics following progressive HZO-induced vasculopathy. We present a case where quantitative anatomical and hemodynamic imaging were performed longitudinally before and after surgical revascularization in a patient with HZO and vasculopathic changes...
December 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29209584/sudden-death-from-spontaneous-coronary-artery-dissection-due-to-polyarteritis-nodosa
#10
Cyrus M Munguti, Paul M Ndunda, Tabitha M Muutu
Spontaneous coronary artery dissection (SCAD) is an emerging and rare cause of acute coronary syndrome and sudden cardiac death. While it was previously reported among young females with fibromuscular dysplasia, new literature indicates that this condition could occur in older populations. Polyarteritis nodosa (PAN) causes systemic necrotizing vasculitis which typically affects small to medium-sized muscular arteries and could affect the coronary arteries. A few case reports of PAN causing acute coronary artery disease have been reported in the literature...
October 2, 2017: Curēus
https://www.readbyqxmd.com/read/29191528/web-vessels-literature-review-and-neurointerventional-management
#11
Benedito J A Pereira, Ulysses Caus Batista, Renato Tavares Tosello, Igor Neia Ströher, Alex Machado Baeta, Ronie Leo Piske
OBJECTIVE: The aim of this study was to describe 27 patients with 32 web vessels (WVs) from our practice and provide a review of the literature regarding imaging diagnostics, clinical presentation, and treatment of WVs. METHODS: A MEDLINE search was performed using combinations of the following terms: "stroke in young adults," "web," "recurrent stroke," "diaphragm-like," "atypical fibromuscular hyperplasia," "atypical fibromuscular dysplasia," "septal fibromuscular dysplasia," "septa," "diaphragms," "pseudovalvular folds," and "carotid diaphragm...
November 28, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29187206/multi-modality-imaging-evaluation-of-recurrent-tako-tsubo-syndrome-in-a-patient-with-coronary-artery-fibromuscular-dysplasia
#12
Yun Cheng, Chenying Lu, Kan Liu
BACKGROUND: Integrated bedside and sophisticated cardiac imaging techniques help characterize the discrepancy between myocardial injury and mechanic dysfunction in acute myocardial infarction. CASE PRESENTATION: A 57 year-old woman presented with sudden onset chest pain and ventricular fibrillation after hearing of her brother's death. The electrocardiography indicated "anterior wall ST segment elevation myocardial infarction". Coronary angiography ruled out obstructive lesion in the major coronary arteries, but revealed fibromuscular dysplasia of the distal left anterior descending artery...
November 30, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/29187205/combined-double-chambered-right-ventricle-tricuspid-valve-dysplasia-ventricular-septal-defect-and-subaortic-stenosis-in-a-dog
#13
Iuliu Scurtu, Flaviu Tabaran, Mircea Mircean, Gavril Giurgiu, Andras Nagy, Cornel Catoi, Dan G Ohad
BACKGROUND: Double chambered right ventricle (DCRV) is a congenital heart anomaly where the right ventricle is divided into two chambers. We describe, for the first time, an unusual combination of DCRV combined with some other congenital heart defects. CASE PRESENTATION: A 1.2-year-old Golden Retriever was presented with lethargy, exercise intolerance and ascites. Physical examination revealed an irregularly irregular pulse and a grade V/VI, systolic, right cranial murmur...
November 29, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/29142493/cervical-arterial-fibromuscular-dysplasia-in-a-biethnic-population-a-retrospective-study-in-the-u-s-mexican-border
#14
Ihtesham A Qureshi, Gustavo J Rodriguez, Tatiana Chacon-Quesada, Gavito-Higuera Jose, Salvador Cruz-Flores, Alberto Maud
Background  There have been studies trying to characterize Fibromuscular Dysplasia (FMD); however, most of them are based in mainly non-Hispanic sample. The objective of this study is to better understand the epidemiology and clinical characteristics of craniocervical FMD in the Hispanic population. Methods  We retrospectively reviewed the cerebral angiograms performed in our center in a period of 3.5 years under any indication looking for angiographic patterns of FMD. Exclusion criteria consisted of cases in which the first angiogram was done when the patients were younger than 18 years...
December 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/29108502/colonic-adventitial-fibromuscular-dysplasia-a-nonspecific-arteriopathy-associated-with-hirschsprung-disease-and-other-obstructive-disorders
#15
Ameet I Thaker, Raj P Kapur
Background Smooth muscle differentiation ("adventitial fibromuscular dysplasia," AFD) was purported as specific to arteries in the transition zone of Hirschsprung disease (HSCR) patients. We investigated AFD in an HSCR population and controls and consider the pathogenesis and significance of the vascular pathology. Design Vascular histology in sections from colonic HSCR resections (n = 55) was compared with age- and site-matched controls with (n = 19) and without (n = 28) non-HSCR obstructive conditions...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29099499/carotid-cavernous-fistula-current-concepts-in-aetiology-investigation-and-management
#16
A D Henderson, N R Miller
A carotid-cavernous fistula (CCF) is an abnormal communication between arteries and veins within the cavernous sinus and may be classified as either direct or dural. Direct CCFs are characterized by a direct connection between the internal carotid artery (ICA) and the cavernous sinus, whereas dural CCFs result from an indirect connection involving cavernous arterial branches and the cavernous sinus. Direct CCFs frequently are traumatic in origin and also may be caused by rupture of an ICA aneurysm within the cavernous sinus, Ehlers-Danlos syndrome type IV, or iatrogenic intervention...
November 3, 2017: Eye
https://www.readbyqxmd.com/read/29095703/sudden-death-due-to-cystic-tumor-of-the-atrioventricular-node-and-fibromuscular-dysplasia-involving-branches-of-the-coronary-arteries
#17
Silvia Farkašová Iannaccone, Daniel Farkaš, Alžbeta Ginelliová, Marián Švajdler, Ján Laco, Ivo Šteiner, Lucia Fröhlichová
In this paper, we report the autopsy findings of a 42-year-old White male who was found deceased at his home by his brother in the early morning hours with a history of excessive alcohol consumption 1 day before his death. A medical record review revealed chronic alcohol use with alcohol dependence syndrome, hypertension, and cardiac arrhythmias by electrocardiogram 2 years prior. External examination revealed only a single bruise on the forehead. Internal examination revealed changes associated with chronic alcohol abuse and mild atherosclerosis...
November 2, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29068131/renal-artery-stenosis-and-ambulatory-blood-pressure-monitoring-a-case-report-and-review-of-the-literature
#18
Ryan R Reeves, Daniel Walters, Ehtisham Mahmud
Renal artery stenosis (RAS) is a prevalent cause of secondary hypertension. Elderly patients with atherosclerosis and young women with fibromuscular dysplasia (FMD) are particularly at risk. Blood pressure screening is often key to this diagnosis, although the reliability of clinical screening has been questioned, and ambulatory blood pressure monitoring (ABPM) likely offers superior ability to diagnose poorly controlled hypertension. In patients with RAS, medical management should be the primary means of therapy; however, in a select group of these patients, renal revascularization may be considered, and has been shown to reduce blood pressure and stabilize chronic kidney disease...
October 25, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/29067889/all-quiet-on-the-front-of-fibromuscular-dysplasia
#19
Kathrin Blödt, Eva Freisinger
No abstract text is available yet for this article.
October 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/29045340/cause-of-renal-infarction-a-retrospective-analysis-of-186-consecutive-cases
#20
Anne-Laure Faucon, Guillaume Bobrie, Anne-Sophie Jannot, Arshid Azarine, Pierre-François Plouin, Michel Azizi, Laurence Amar
BACKGROUND: Renal infarction can cause abrupt and severe hypertension and less frequently renal failure. Renal infarction results from disruption of renal blood flow in the main ipsilateral renal artery or in a segmental branch. Underlying mechanism is either general, 'embolic' or 'thrombophilic', or local related to primary 'renal artery lesion'. It depends on various causes. In absence of an identified cause, renal infarction is classified as 'idiopathic'. Previous studies report a significant number of 'idiopathic' renal infarction...
October 16, 2017: Journal of Hypertension
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