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https://www.readbyqxmd.com/read/28635993/head-and-neck-vascular-anomalies-a-multidisciplinary-approach-and-diagnostic-criteria
#1
L Moneghini, V Sangiorgio, D Tosi, G Colletti, F Melchiorre, V Baraldini, D Graziani, R M Alfano, G Vercellio, G Bulfamante
Vascular anomalies represent a heterogeneous group of pathologies of the circulatory system that can affect any type of hematic and /or lymphatic vessel of different diameter or anatomic site. The extreme variability of tissue types and districts involved by these lesions determines a wide heterogeneity of clinical manifestations, resulting in involvement of different medical expertise. In this context, a commonly agreed terminology is crucial for the appropriate evaluation and multidisciplinary management of patients...
March 2017: Pathologica
https://www.readbyqxmd.com/read/28635200/unusual-symptomatic-late-onset-presentation-of-aberrant-right-subclavian-artery-report-of-two-cases-and-short-literature-review
#2
Yannis Dimitroglou, Ioannis Loulakas, Maria Chounti, Michail Megalakakis, Eleni Karavana, Panagiotis Hountis
Aberrant subclavian arteries are congenital vascular anomalies that usually do not cause any symptoms. When symptomatic they are considered as a rare cause of dysphagia. This presentation is known as dysphagia lusoria. They are diagnosed by barium swallow or contrast-enhanced computed tomography, although it may be an incidental finding. Management varies from life modifications and drug therapy to surgical intervention. We report two cases of the unusual form of late onset symptomatic presentation because of the presence of aberrant right subclavian artery...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#3
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28628159/-diagnosis-accuracy-of-fine-needle-aspiration-cytology-for-vascular-anomalies
#4
(no author information available yet)
OBJECTIVE: To evaluate the feasibility of fine-needle aspiration cytology (FNAC) in diagnosing vascular abnormality in oral and maxillofacial region. METHODS: The method of retrospective study was used. The data from the patients who underwent FNAC from 2011 to 2014 in Department of Oral and Maxillofacial Surgery, Peking University School of Stomatology were collected. All the included patients were divided into surgery group and non-surgery group. The patients in surgery group underwent lesion resection and the postoperative pathological results were gained...
June 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#5
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28622551/tips-and-tricks-to-optimize-mri-protocols-for-cutaneous-vascular-anomalies
#6
REVIEW
Mark D Mamlouk, Andrew D Nicholson, Daniel L Cooke, Christopher P Hess
Magnetic resonance imaging (MRI) serves as the principal imaging modality to diagnose and plan treatment for children with cutaneous vascular anomalies. While routine MRI protocols can lead to the correct diagnosis in the majority of cases, the imaging appearances can sometimes be nonspecific or confusing, yielding more than one possible diagnosis. This review highlights specific MRI sequence recommendations and scanning tips that can optimize the imaging protocol to increase diagnostic confidence.
May 31, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28622428/cutaneous-pseudomyogenic-epithelioid-sarcoma-like-hemangioendothelioma-fosb-immunohistochemistry-demonstrating-the-serpine1-fosb-fusion-gene
#7
Victoria Alegría-Landa, Carlos Santonja, Margarita Jo-Velasco, Heinz Kutzner, Luis Requena
Pseudomyogenic hemangioendothelioma is a distinctive vascular neoplasm characterized by a multicentric presentation that mostly involves the lower extremities of young adults. Histopathologic resemblance to epithelioid sarcoma and co-expression of both keratins and endothelial markers are its hallmarks. A specific SERPINE1-FOSB fusion gene derived from t(7;19)(q22;q13) with significantly higher FOSB mRNA expression in neoplastic cells is the characteristic cytogenetic anomaly of this tumor. This article is protected by copyright...
June 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28617243/fingertip-capillary-malformation-and-associated-disorders-report-of-9-cases
#8
Juan Carlos López-Gutiérrez, Pedro Redondo, Marta Ivars
Although capillary malformations (CMs) are not usually serious health problems in themselves, they can occasionally be warning signs for syndromes with more serious or aggressive vascular malformations not readily apparent at birth or on initial examination. We describe a series of 9 patients with a common phenotype: (1) CM on the fingertips; (2) associated combined vascular (lymphatic-venous) malformations on the trunk and/or extremities; and (3) in some cases, partial overgrowth and asymmetry of the extremities...
June 15, 2017: Pediatrics
https://www.readbyqxmd.com/read/28616537/congenital-arch-vessel-anomalies-in-charge-syndrome-a-frequent-feature-with-risk-for-co-morbidity
#9
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
BACKGROUND: CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies. METHODS AND RESULTS: We report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28614860/primary-fetal-lung-hypoplasia-pflh-imaging-and-clinical-characteristics
#10
Reuven Achiron, Yinon Gilboa, Yishay Salem, Yizhak Jacobson, Lisa Raviv-Zilka, Andreea Cioca, Debora Kidron, Zvi Kivilevitch
Purpose To describe in utero and postnatal imaging and clinical characteristics of primary fetal lung hypoplasia (PFLH). Methods A retrospective review of fetuses and neonates diagnosed in one academic tertiary center during an eleven-year period. Results 12 cases of PFLH were identified. 4 were bilateral and 8 had unilateral involvement. Prenatal sonographic characteristics, postnatal magnetic resonance imaging (MRI), computerized tomographic angiography (CTA), and histologic findings are described...
June 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28611988/management-of-orbital-and-periorbital-venous-malformation
#11
Lara A Benoiton, Kenneth Chan, Frederica Steiner, Trevor FitzJohn, Swee T Tan
BACKGROUND: To review our management of common venous malformation (VM) affecting the orbit and/or periorbital area. METHODS: Consecutive patients with orbital and/or periorbital VM were identified from our vascular anomalies database. Demographic details of the patients, anatomic site(s) affected, symptoms and signs, presence of a family history of VM, and types of treatment(s) were collected, supplemented by chart review. RESULTS: A total of 24 patients' age 1-68 (mean, 30) years with orbital and/or periorbital VM presented with cosmetic concerns (n = 17, 71%), distensibility (n = 15, 63%), pain (n = 9, 38%), diplopia (n = 4, 17%), and spontaneous thrombosis (n = 1, 8%)...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28607822/carotid-artery-occlusion-in-kabuki-syndrome-case-report-and-literature-review
#12
Luana A M Gatto, Luis Henrique A Sousa, Gelson Luis Koppe, Zeferino Demartini
BACKGROUND: Kabuki syndrome is a rare multiple congenital anomaly syndrome whose main diagnostic findings are craniofacial phenotypic changes and mental retardation. Organic structural lesions in the central nervous system are rare, although have been described already. Systemic vascular changes have also been reported rarely. CASE DESCRIPTION: We report the case of a young patient with Kabuki syndrome who had a transient ischemic attack due to dissection of the internal carotid artery and a likely gliosis area on the white matter...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28603157/anatomical-and-radiological-analyses-of-l-shaped-kidney-with-vascular-anomalies
#13
Joe Iwanaga, Koichi Watanabe, Tsuyoshi Saga, Nobuhiro Tahara, Yoko Tabira, Ayano Sakuragi, Keiko Kaji, Kiyoshi Takahashi, Koh-Ichi Yamaki
L-shaped kidney is a congenital anomaly. The disorder results in the kidney appearing very similar in shape to horseshoe kidney (also a congenital anomaly), but either the right or left kidney is located at a position lower than the other kidney. In this report, we describe a woman with L-shaped kidney, identified during anatomical dissection, and compare the findings with clinical data obtained before her death. We discuss the embryology of L-shaped kidney based on detailed anatomical data on the kidney and its vascular system obtained by means of gross anatomical, radiological, and histological examinations...
June 12, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28599883/uterine-sparing-laparoscopic-resection-of-accessory-cavitated-uterine-masses
#14
Ann Peters, Noah B Rindos, Richard S Guido, Nicole M Donnellan
To demonstrate surgical techniques utilized during uterine-sparing laparoscopic resections of accessory cavitated uterine masses (ACUM) BACKGROUND: ACUM represent a rare uterine entity observed in premenopausal women suffering from dysmenorrhea and recurrent pelvic pain. The diagnosis is made when an isolated extra-cavitated uterine mass is resected from an otherwise normal appearing uterus with unremarkable endometrial lumen and adnexal structures. Pathologic confirmation requires an accessory cavity lined with endometrial epithelium (and corresponding glands and stroma) filled with chocolate-brown fluid...
June 6, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28595829/-a-new-treatment-for-vascular-anomalies-six-cases-treated-with-rapamycin
#15
S Thirion, P Jamblin, M Demarche, L Boon, A Thiry, C Hoyoux
Vascular anomalies (VAs) result from the defective development of the embryonic vascular system and feature dysplastic malformed vessels, which are not always apparent at birth. They do not regress over the patient's lifetime; they usually have commensurate growth during childhood and may worsen over time if not treated. VAs may cause chronic painful swelling, bleeding, functional deficits or vital structure obstruction. These patients' quality of life is usually impaired because of the chronicity and recurrence of the disease...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28595487/circulating-levels-of-vascular-endothelial-growth-factor-and-basic-fibroblastic-growth-factor-in-infantile-hemangioma-versus-vascular-malformations
#16
Nehal M El-Raggal, Rania A El-Farrash, Abeer A Saad, Enas A S Attia, Hatem A Saafan, Ibrahim S Shaaban
Few preliminary reports studied the utility of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) for differentiation between infantile hemangiomas (IHs) and vascular malformations. The aim of this study was to investigate the role of serum VEGF and bFGF levels in differentiating IHs from vascular malformations and identifying the stage and clinical course of IHs. Serum levels of VEGF and bFGF were assessed in 60 infants and children with various cutaneous vascular anomalies defined in 3 groups: proliferating IHs (n = 25), involuting IHs (n = 23), and vascular malformations (n = 12), in comparison with their levels in 40 healthy matched control...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28584686/extra-pituitary-cerebral-anomalies-in-pediatric-patients-of-ectopic-neurohypophysis-an-uncommon-association
#17
Deb K Boruah, Shantiranjan Sanyal, Arjun Prakash, Sashidhar Achar, Rajanikant R Yadav, T Pravakaran, Dhaval D Dhingani, Barun K Sarmah
CONTEXT: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. AIM: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. SETTINGS AND DESIGN: A hospital-based cross-sectional study was conducted in a tertiary care center...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28583044/acquired-intracranial-arterial-aneurysm-and-stroke-after-vessel-dissection-in-a-child-with-coarctation-of-the-aorta
#18
Andrea Donti, Luca Spinardi, Roberto Formigari, Maria Elisabetta Mariucci, Gabriele Egidy Assenza, Marco Pastore Trossello, Marco Bonvicini
Vascular events in patients with coarctation of the aorta have been extensively reported and account for the majority of morbidity and mortality in untreated patients. The exact mechanism for this association is not completely understood and may include acquired anomalies or congenital abnormalities of intracranial vessel. Here we report a case of intracranial internal carotid artery dissection with subsequent formation of acquired large carotid aneurysm in a child with severe systemic hypertension and coarctation of the aorta...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28579509/real-time-distal-multifocal-repeated-lenticulostriate-bleeding-points-during-thrombectomy-in-a-patient-with-acute-variable-m1-occlusion-a-case-report-and-a-literature-review
#19
Simone Peschillo, Francesco Diana, Claudio Colonnese, Vittorio Mellina, Francesco Marzetti, Italia La Rosa, Paolo Missori
BACKGROUND: Intracerebral hemorrhage can be classified as either primary or secondary to various conditions such as vascular anomalies or stroke. We present a case of real-time incident detected on digital subtraction angiography (DSA) during thrombectomy in a patient with acute variable M1 occlusion. MATERIALS AND METHODS: A comprehensive literature search of the PubMed and Scopus databases was conducted: this is the first real-time visualization using DSA of a basal ganglia hematoma formation secondary to distal multifocal bleeding points just before a thrombectomy in a patient with acute variable M1 occlusion...
June 1, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28577738/-pik3ca-related-overgrowth-syndrome-pros
#20
Quitterie Venot, Guillaume Canaud
This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome...
April 2017: Néphrologie & Thérapeutique
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