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Capillary malformation

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https://www.readbyqxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#1
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29318367/-vascular-anomalies-part%C3%A2-ii-vascular-malformations
#2
S Mylonas, S Brunkwall, J Brunkwall
Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later...
January 9, 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#3
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant congenital melanocytic nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
January 5, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29295866/connexin-43-gap-junctions-contribute-to-brain-endothelial-barrier-hyperpermeability-in-familial-cerebral-cavernous-malformations-type-iii-by-modulating-tight-junction-structure
#4
Allison M Johnson, James P Roach, Anna Hu, Svetlana M Stamatovic, Michal R Zochowski, Richard F Keep, Anuska V Andjelkovic
Familial cerebral cavernous malformations type III (fCCM3) is a disease of the cerebrovascular system caused by loss-of-function mutations in ccm3 that result in dilated capillary beds that are susceptible to hemorrhage. Before hemorrhage, fCCM3 lesions are characterized by a hyperpermeable blood-brain barrier (BBB), the key pathologic feature of fCCM3. We demonstrate that connexin 43 (Cx43), a gap junction (GJ) protein that is incorporated into the BBB junction complex, is up-regulated in lesions of a murine model of fCCM3...
January 2, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29283148/combined-approach-to-management-of-periocular-arteriovenous-malformation-by-interventional-radiology-and-surgical-excision
#5
Bipasha Mukherjee, Vathsalya Vijay, Swatee Halbe
Periorbital arteriovenous malformations (AVMs) are congenital lesions that may cause significant morbidity such as amblyopia, cosmetic disfigurement, or chronic pain. Due to the rarity of these lesions, they are frequently misdiagnosed and treated inappropriately. We managed a 6-year-old girl with preseptal AVM by endovascular embolization followed by complete surgical excision after 2 days. She was previously diagnosed as capillary hemangioma and was being treated with intralesional steroid injections and oral propranolol...
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29233587/combined-capillary-venous-lymphatic-malformations-without-overgrowth-in-patients-with-klippel-tr%C3%A3-naunay-syndrome
#6
Elisa Brandigi, Giovanni Torino, Mario Messina, Francesco Molinaro, Oscar Mazzei, Tommaso Matucci, Juan Carlos López Gutiérrez
OBJECTIVE: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS...
December 7, 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29217071/psychosocial-impact-of-vascular-anomalies-on-children-and-their-families
#7
REVIEW
Alexandra G Espinel, Nancy M Bauman
Vascular anomalies are divided into tumors and malformations based on their clinical and cytologic attributes. Vascular malformations are further subcategorized as low-flow lymphatic, venous, capillary, or mixed lesions and as high-flow arteriovenous malformations. Treatment is reserved for vascular anomalies that are symptomatic or cosmetically disfiguring, and surgical and nonsurgical treatment options are widely varied with variable outcomes.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217063/capillary-malformations-portwine-stains-of-the-head-and-neck-natural-history-investigations-laser-and-surgical-management
#8
REVIEW
Jeong Woo Lee, Ho Yun Chung
Capillary malformations (CMs), also known as port-wine stains, are the most common type of congenital vascular malformations. Facial CM often occurs with a quasidermatomal distribution according to the sensory trigeminal nerve distribution. With time, these lesions darken progressively, and soft tissue hypertrophy, bony hypertrophy, and/or nodule formation can develop. Multiple treatments for CM have been reported. However, the mainstay and gold standard therapy for facial or aesthetically sensitive CM is still the pulsed dye laser treatment...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29211370/-the-treatment-of-venous-malformations-in-adult-patients-the-role-of-us-guided-sclerotherapy
#9
Marco Fresa, Andreas Erdmann, Oumama El Ezzi, Anthony De Buys, Michele Depairon, Amin Dabiri, Barbara Ney, Lucia Mazzolai
Venous malformations are slow flow dysplastic lesions, constituted by a vascular nest without arterial or capillary connections, more or less independent of the normal venous anatomy and circulation. In certain cases a treatment is required for symptom relief or for natural complications management. The percutaneous sclerotherapy under ultrasound guidance is increasingly used as an effective and mini-invasive option, allowing obtaining very good results with minor side effects. Several substances have been used with different efficacy and side effects rate...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29203436/a-cross-sectional-survey-of-long-term-outcomes-for-patients-with-diffuse-capillary-malformation-with-overgrowth
#10
Kevin X Liu, Vimal H Prajapati, Marilyn G Liang, John B Mulliken, Margaret S Lee
No abstract text is available yet for this article.
December 1, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29191115/focal-neurons-another-source-of-vascular-endothelial-growth-factor-in-brain-arteriovenous-malformation-tissues
#11
Pengchen Li, Longbo Zhang, Deshun Chen, Ming Zeng, Fenghua Chen
Background Brain arteriovenous malformations (bAVMs) are devastating, hemorrhage-prone, cerebrovascular entities characterized by well-defined feeding arteries, draining veins, and the absence of a capillary bed. The endothelial cells that comprise bAVMs exhibit a loss of arterial and venous specification. The role of abnormal angiogenesis in the formation and progression of bAVMs is still unclear. This study aimed to investigate the expression of vascular endothelial growth factor (VEGF) in neurons and glial cells in bAVMs to try to uncover the multiple cell origin of VEGF...
November 30, 2017: Neurological Research
https://www.readbyqxmd.com/read/29190776/large-scale-identification-of-human-cerebrovascular-proteins-inter-tissue-and-intracerebral-vascular-protein-diversity
#12
Soo Jung Lee, Soonhyung Kwon, John R Gatti, Ejona Korcari, Ty E Gresser, Princess C Felix, Simon G Keep, Kevin C Pasquale, Tongxu Bai, Sabrina A Blanchett-Anderson, Nancy W Wu, Charissa Obeng-Nyarko, Kossi M Senagbe, Kathy C Young, Snehaa Maripudi, Bharath C Yalavarthi, Dajana Korcari, Andre Y Liu, Benjamin C Schaffler, Richard F Keep, Michael M Wang
The human cerebrovascular system is responsible for regulating demand-dependent perfusion and maintaining the blood-brain barrier (BBB). In addition, defects in the human cerebrovasculature lead to stroke, intracerebral hemorrhage, vascular malformations, and vascular cognitive impairment. The objective of this study was to discover new proteins of the human cerebrovascular system using expression data from the Human Protein Atlas, a large-scale project which allows public access to immunohistochemical analysis of human tissues...
2017: PloS One
https://www.readbyqxmd.com/read/29183621/capillary-malformations-treated-with-sequential-pulsed-dye-and-nd-yag-laser-therapy-a-retrospective-study
#13
J Alcántara-González, P Boixeda, M T Truchuelo-Díez, N Jiménez-Gómez, B Pérez-García, L Pérez-Carmona, P Jaén Olasolo
INTRODUCTION AND OBJECTIVE: Capillary malformations are the most common vascular malformations in childhood. The current treatment of choice is pulsed dye laser (PDL) therapy, but this frequently does not result in complete resolution. The search for alternative treatment strategies thus continues. In this study we describe our experience with the use of sequential dual-wavelength PDL and Nd:YAG laser therapy in patients with capillary malformations. MATERIAL AND METHODS: We conducted a retrospective, descriptive study of patients with capillary malformations treated with dual-wavelength PDL and Nd:YAG laser therapy between 2006 and 2011...
November 25, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#14
Katelyn Mariko Updyke, Amor Khachemoune
<p>Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29138199/electrosclerotherapy-for-capillary-malformations-study-protocol-for-a-randomised-within-patient-controlled-pilot-trial
#15
Sophie E R Horbach, Albert Wolkerstorfer, Daniel Martijn de Bruin, Chantal M A M van der Horst
INTRODUCTION: The current state-of-the-art treatment modality for hypertrophic capillary malformations (CMs), laser therapy, has a considerable rate of non-responders and recurrence. Intralesional bleomycin injections (or 'sclerotherapy') are commonly used to treat venous and lymphatic malformations with an excellent effect, but these intravascular injections are not possible in CMs due to the small diameter of the vessels. Electroporation-an electric field applied to the tissue-could increase the permeability of endothelial cells, which could theoretically facilitate targeted localised bleomycin delivery...
November 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/29120072/rasa1-mutation-in-a-family-with-capillary-malformation-arteriovenous-malformation-syndrome-a-discussion-of-the-differential-diagnosis
#16
Lisa R Edwards, Adam B Blechman, Barrett J Zlotoff
We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis...
November 9, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29111303/in-vitro-characteristics-of-endothelial-cells-prepared-from-human-cerebral-arteriovenous-malformation-lesions-using-a-novel-method
#17
Q Hao, X L Chen, L Ma, X Ye, H Wang, T T Wang, Y Hu, Y L Zhao
BACKGROUND AND PURPOSE: The cerebral arteriovenous malformation (cAVM) is a usual and continually unaware reason of heamorrhage and seizure. It contains of feeder arteries, drain veins and abnormal vessel nets. However, pathologic mechanisms of the development of cAVM are unknown. The purpose of this study was to explore a novel protocol to isolate, culture and passage endothelial cells (ECs) from human cAVM lesions. METHODS: We developed a protocol for isolating and growing ECs from eight patients with cAVM...
October 28, 2017: Microvascular Research
https://www.readbyqxmd.com/read/29110021/search-for-rasa1-variants-in-capillary-malformations-of-the-legs-in-113-children-results-from-the-french-national-paediatric-cohort-conape
#18
Annabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, Olivia Boccara, Ludovic Martin, Christine Chiaverini, Catherine Eschard, Nathalie Bénéton, Pierre Vabres, Xavier Balguerie, Patrice Plantin, Didier Bessis, Sébastien Barbarot, Ali Dadban, Catherine Droitcourt, Aline Berthelot, Gérard Lorette, Sophie Leducq, Mahtab Samimi, Christian Andres, Agnès Caille, Patrick Vourc'h
Patients with an inherited autosomal-dominant disorder, capillary malformation-arteriovenous malformation (CM-AVM), frequently have mutations in Ras P21 protein activator 1 (RASA1). The aims of this study were to determine the prevalence of germline RASA1 variants in a French multicentre national cohort of children, age range 2-12 years, with sporadic occurrence of capillary malformation (CM) of the legs, whatever the associated abnormalities, and to identify genotype-phenotype correlates. DNA was extracted from leukocytes in blood samples, purified and amplified, and all exons of the RASA1 gene were analysed...
November 7, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29076420/antiepileptic-treatment-strategy-in-vascular-malformations
#19
Dimitrios Giakoumettis, Konstantinos Margetis, George Stranjalis, Nikolaos Haliasos, Theodoros G Papaioannou, Marios S Themistocleous
BACKGROUND: Antiepileptic treatment strategy plays an important role in the management of intracranial vascular malformations. The intracranial vascular malformations can be divided into cavernous hemangiomas, arteriovenous malformations, developmental venous anomalies and capillary telangiectasias. Seizures and hemorrhage are among their most common clinical manifestations. OBJECTIVE: The aim of this article is to review the current literature on the antiepileptic treatment in the setting of intracranial vascular malformations and offer an updated view on when antiepileptic drug treatment should be employed for each type of vascular malformation...
October 27, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29025196/prenatal-molecular-diagnosis-in-rasa1-related-disease
#20
Aurélien Palmyre, Mélanie Eyries, Marie-Victoire Senat, Augustin Ozanne, Stéphanie Staraci, Philippe Dufour, Thierry Chinet, Pascal Lacombe, Florent Soubrier, Philippe Charron
RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications...
October 12, 2017: Prenatal Diagnosis
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