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Capillary malformation

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https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#1
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
#2
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
#3
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
#4
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 27, 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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29024832/somatic-second-hit-mutation-of-rasa1-in-vascular-endothelial-cells-in-capillary-malformation-arteriovenous-malformation
#8
Philip E Lapinski, Abbas Doosti, Valerie Salato, Paula North, Patricia E Burrows, Philip D King
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant vascular disorder that is associated with inherited inactivating mutations of the RASA1 gene in the majority of cases. Characteristically, patients exhibit one or more focal cutaneous CM that may occur alone or together with AVM, arteriovenous fistulas or lymphatic vessel abnormalities. The focal nature and varying presentation of lesions has led to the hypothesis that somatic "second hit" inactivating mutations of RASA1 are necessary for disease development...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28963775/clinical-and-hemodynamic-risk-factors-associated-with-discrepancies-in-lower-limb-length-with-capillary-malformations-data-from-the-national-paediatric-french-cohort-conape
#9
M Samimi, M Durieux-Verde, A Caille, J Mazereeuw-Hautier, O Boccara, L Martin, C Chiaverini, C Eschard, N Beneton, P Vabres, X Balguerie, P Plantin, D Bessis, S Barbarot, A Dadban, C Droitcourt, S Leducq, G Lorette, B Morel, A Maruani
BACKGROUND: Genetics discoveries have allowed for better understanding capillary malformations (CMs) with overgrowth syndrome. However, molecular analyses are still not easy to perform or interpret. Other analytical methods are needed. OBJECTIVE: We aimed to identify clinical and hemodynamic factors associated with leg length discrepancy (LLD) in children with CM of lower limbs. METHODS: Data were obtained from the multicentre French national cohort CONAPE (COhorte Nationale d'enfants atteints d'Angiome Plan de membrE inférieur), including children from 2 to 12 years old with CM of lower limbs...
September 30, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28955114/angioarchitecture-of-hereditary-arteriovenous-malformations
#10
REVIEW
Patricia E Burrows
This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment...
September 2017: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/28941273/hypoglycaemia-represents-a-clinically-significant-manifestation-of-pik3ca-and-ccnd2-associated-segmental-overgrowth
#11
M D Jh, N Hickson, I Banerjee, P G Murray, D Ram, K Metcalfe, J Clayton-Smith, S Douzgou
The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly-capillary malformation syndrome (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus syndrome (MPPH) who developed clinically significant hypoglycaemia...
September 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28936439/a-case-of-pulmonary-arteriovenous-malformation-role-of-interventional-radiology-in-diagnosis-and-treatment
#12
Pranav Sharma, Puneet Kochar, Salil Sharma, Nishant Gupta, Shuo Li, Kusum Hooda, Yogesh Kumar
Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth...
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28892784/ileal-angiodysplasia-presentation-as-a-bowel-obstruction-a-case-report
#13
Ons Ghdes, Ali Gaja, Ahlem Blel, Hichem Jarraya, Najla Mnif
INTRODUCTION: Angiodysplasia is a common vascular abnormality of the gastrointestinal tract, found in the elderly and most frequently revealed by gastrointestinal bleeding. We report an original case of ileal angiodysplasia in an 83-year-old woman presenting as a bowel obstruction. CASE PRESENTATION: An 83-year-old woman with a medical history of chronic untreated anemia, presented with cardinal symptoms of bowel obstruction. Computed tomography revealed diffuse ileal wall thickening with multiple zones of stenosis, which were aggravated by an ileal perforation and associated with vascular abnormalities compatible with angiodysplasia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28890056/giant-chest-wall-arteriovenous-malformation-a-case-report-and-literature-review
#14
Cullen McCarthy, Subrato Deb, Suhair Maqusi, Joshua Gierman
INTRODUCTION: We present an interesting case of a 55 year-old male with a large left chest mass after significant cutaneous bleeding. CT angiogram of the chest revealed arteriovenous malformation with blood supply from subbranches of the left subclavian artery, left internal mammary artery and left external carotid artery. Measuring 5.0x14.0x10.8cm, the mass extended superior to the clavicle and inferior to the third rib with medial and lateral borders at the level of the clavicular head and coracoid, respectively...
September 7, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28870584/relevance-of-ccm-gene-polymorphisms-for-clinical-management-of-sporadic-cerebral-cavernous-malformations
#15
Carmela Rinaldi, Placido Bramanti, Concetta Scimone, Luigi Donato, Concetta Alafaci, Rosalia D'Angelo, Antonina Sidoti
Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in both sporadic and inherited autosomal dominant form. Germline mutations in CCM1, CCM2 and CCM3 were identified in familial cases. Over the past 13years we performed sequencing and MLPA of the CCM genes in all sporadic and familial CCM cases coming from some hospital clinics of Neurology and Neurosurgery of Messina and other Italian cities. Our results showed that CCM sporadic patients, negative for previously reported CCM gene causative mutations, always carried known CCM polymorphisms...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28869282/percutaneous-sclerotherapy-using-bleomycin-for-the-treatment-of-vascular-malformations
#16
Hyun-Joo Lee, Tae-Wook Kim, Jeong-Min Kim, Gun-Wook Kim, Hyun-Chang Ko, Byung-Soo Kim, Moon-Bum Kim, Hoon-Soo Kim
BACKGROUND: Some vascular malformations are difficult to manage with surgical treatment. Thus, percutaneous sclerotherapy has been utilized with several advantages over surgical treatment. Bleomycin is one of several sclerosing agents used for the treatment of vascular malformations. OBJECTIVES: To evaluate therapeutic efficacy and safety of percutaneous sclerotherapy using bleomycin for the treatment of vascular malformations. METHODS: Thirty patients diagnosed with vascular malformations, including four with capillary malformations with nodular change, nine with lymphatic malformations, and 17 with venous malformations, were involved in the study...
November 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28866729/experimental-investigation-on-the-vascular-thermal-response-to-near-infrared-laser-pulses
#17
Dong Li, Bin Chen, Wenjuan Wu, Zhaoxia Ying
Port wine stains (PWS) are congenital vascular malformations that progressively darken and thicken with age. To improve the effect of laser therapy in clinical practice, thermal response of blood vessel to a 1064 nm Nd:YAG laser with controlled energy doses and pulse durations was evaluated using the dorsal skin chamber model. A total of 137 vessels with 30-300 μm diameters were selected from the dorsal skin of the mouse to match those capillaries in port wine stains. Experimental results showed that the thermal response of blood vessels to 1064 nm laser irradiation can be classified as follows: vessel dilation, coagulation, constriction with decreased diameter, complete constriction, hemorrhage, and collagen damage with increasing laser radiant exposure...
December 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28830640/the-radical-combined-approach-in-cerebral-arteriovenous-malformation-treatment-technical-note
#18
Umit Kocaman, Tayfun Dalbasti, Utku Mahir Yildirim, Hakan Yilmaz
AVMs are vessel anomalies where a connection between arterial and venous systems is present and the capillary bed is absent between the two. AVMs tend to present with seizures, headaches, focal neurological deficits and hemorrhage. Hemorrhage is the most common form of presentation. AVM's have a 2-4% annual risk of hemorrhage. Certain studies report this rate as 1%. The greatest discussion in AVM treatment is whether to use interventional treatment or monitor with medical treatment. There are 3 modalities that can be used for interventional treatment; microsurgical resection, endovascular embolization and stereotactic radiosurgery...
August 12, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28822558/wilms-tumor-screening-in-diffuse-capillary-malformation-with-overgrowth-and-macrocephaly-capillary-malformation-a-retrospective-study
#19
COMPARATIVE STUDY
Caitlin M Peterman, Sophie Vadeboncoeur, John B Mulliken, Steven J Fishman, Marilyn G Liang
BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor...
November 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#20
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
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