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Capillary malformation

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https://www.readbyqxmd.com/read/28936439/a-case-of-pulmonary-arteriovenous-malformation-role-of-interventional-radiology-in-diagnosis-and-treatment
#1
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
#2
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...
July 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28890056/giant-chest-wall-arteriovenous-malformation-a-case-report-and-literature-review
#3
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
#4
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
#5
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...
September 4, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28866729/experimental-investigation-on-the-vascular-thermal-response-to-near-infrared-laser-pulses
#6
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...
September 2, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28830640/the-radical-combined-approach-in-cerebral-arteriovenous-malformation-treatment-technical-note
#7
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
#8
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...
August 16, 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
#9
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)
https://www.readbyqxmd.com/read/28804916/lane-s-disease-erythema-palmare-hereditarium-a-report-of-five-cases-and-a-review-of-the-literature
#10
Carlotta Gurioli, Annalisa Patrizi, Martina Lambertini, Iria Neri
BACKGROUND: Erythema palmare hereditarium (EPH), also known as Lane's disease, is a rare, benign condition presenting as persistent erythema involving the palms. EPH can appear at birth or later in life and usually in at least two members of the same family, although a sporadic case has been reported. METHODS: We report five cases of EPH and offer a review of the current literature. The first and second cases are twin boys presenting with erythema mainly on the thenar and hypothenar eminences and on the phalanges that appeared 8 months after birth...
August 14, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28791278/venous-thromboembolism-in-pediatric-vascular-anomalies
#11
REVIEW
Taizo A Nakano, Chadi Zeinati
The presence of a vascular anomaly suggests that capillaries, veins, arteries, and/or lymphatic vessels have demonstrated abnormal development and growth. Often dilated and misshaped, these vessels augment normal flow of blood and lymphatic fluids that increases the overall risk to develop intralesional thrombosis. Abnormal endothelial and lymphoendothelial cells activate hemostasis and hyperfibrinolytic pathways through poorly understood mechanisms, which contribute to the development of localized intravascular coagulopathy...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28730721/ephb4-mutation-implicated-in-capillary-malformation-arteriovenous-malformation-syndrome-a-case-report
#12
JiaDe Yu, Jenna L Streicher, Livija Medne, Ian D Krantz, Albert C Yan
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis...
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28728325/the-usefulness-of-surgical-treatment-in-slow-flow-vascular-malformation-patients
#13
Gyu Bin Kang, Yong Chan Bae, Su Bong Nam, Seong Hwan Bae, Ji Yoon Sung
BACKGROUND: Many difficulties exist in establishing a treatment plan for slow-flow vascular malformation (SFVM). In particular, little research has been conducted on the surgical treatment of SFVMs. Thus, we investigated what proportion of SFVM patients were candidates for surgical treatment in clinical practice and how useful surgical treatment was in those patients. METHODS: This study included 109 SFVM patients who received care at the authors' clinic from 2007 to 2015...
July 2017: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/28724825/a-rare-case-of-overlapping-sturge-weber-syndrome-and-klippel-trenaunay-syndrome-associated-with-bilateral-refractory-childhood-glaucoma
#14
Manju R Pillai, P P Hasini, Ashish Ahuja, S R Krishnadas
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28687708/germline-loss-of-function-mutations-in-ephb4-cause-a-second-form-of-capillary-malformation-arteriovenous-malformation-cm-avm2-deregulating-ras-mapk-signaling
#15
Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R Cordisco, Wendy K Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E Pyeritz, David J Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G Brooks, Juliette Dupont, Maria A González-Enseñat, Ilona J Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B Mulliken, Laurence M Boon, Miikka Vikkula
Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Methods -We conducted a genome-wide linkage study on a CM-AVM family. Whole exome sequencing was also performed on 9 unrelated CM-AVM families...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28675425/foxc2-influences-alveolar-epithelial-cell-differentiation-during-lung-development
#16
Mayoko Tsuji, Masae Morishima, Kazuhiko Shimizu, Shunichi Morikawa, Mikael Heglind, Sven Enerbäck, Taichi Ezaki, Jun Tamaoki
FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Mutant fetuses at embryonic days 10.5-18.5 were obtained from mating of Foxc2(+/-) mice and then analyzed...
July 4, 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#17
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28652904/successful-treatment-of-unilateral-klippel-trenaunay-syndrome-with-pulsed-dye-laser-in-a-2-week-old-infant
#18
Hoda Rahimi, Habib Hassannejad, Hamideh Moravvej
Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous capillary malformation, as well as bone and soft tissue hypertrophy. Case Report: A 2-week-old female infant presented to our clinic because of vascular nevus and progressive enlargement of her right extremities and trunk since birth. The patient was treated with 595-nm pulsed-dye laser (PDL). Her port-wine stain (PWS) disappeared completely after third PDL session and the soft tissue hypertrophy stopped...
2017: Journal of Lasers in Medical Sciences
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#19
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28645220/comparison-of-emla-cream-and-topical-lidocaine-tape-for-pain-relief-of-v-beam-laser-treatment
#20
Masaru Horikiri, Kazuki Ueda, Takao Sakaba
The authors compared the analgesic effects of two topical applications; Emla(®) cream (Sato Pharmaceutical Co. Ltd., Tokyo, Japan) and 60% lidocaine tape (Penles(®) tape; Maruho, Osaka, Japan). The authors examined 20 outpatients with capillary malformations. Emla(®) cream or Penles(®) tape was applied 1 h before laser irradiation using V-Beam. After V-Beam irradiation, pain intensity was measured using Pain Vision(®) (NIPRO, Osaka, Japan), while subjective pain was converted into numerical values using the VAS system...
June 23, 2017: Journal of Plastic Surgery and Hand Surgery
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