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Capillary malformation

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https://www.readbyqxmd.com/read/28430880/cerebral-abscess-associated-with-odontogenic-bacteremias-hypoxemia-and-iron-loading-in-immunocompetent-patients-with-right-to-left-shunting-through-pulmonary-arteriovenous-malformations
#1
E J Boother, S Brownlow, H C Tighe, K B Bamford, J E Jackson, C L Shovlin
Background: Cerebral abscess is a recognised complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored. Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with CT-scan confirmed PAVMs (including 403 (90.5%) with hereditary haemorrhagic telangiectasia) were recruited to a prospective series...
April 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28412265/one-stage-supramaximal-full-thickness-wedge-resection-of-vascular-lip-anomalies
#2
Dawn K De Castro, Zhi Yang Ng, Paul W Holzer, Milton Waner, Curtis L Cetrulo, Aaron Fay
PURPOSE: Vascular lip anomalies include infantile hemangiomas, venous malformations, and arteriovenous malformations. Surgical management can be complicated by alterations in horizontal length, vertical height, and lip thickness from the underlying pathology. Additional reconstructive challenges include preservation of oral continence, vermillion definition, and the sublabial sulcus. This report describes a technique of supramaximal single-stage full-thickness wedge resection of these lesions...
March 22, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#3
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28406466/artificial-red-blood-cells-as-potential-photosensitizers-in-dye-laser-treatment-against-port-wine-stains
#4
REVIEW
Naoaki Rikihisa, Shoji Watanabe, Yoshiaki Saito, Hiromi Sakai
We suggest a novel method that uses artificial blood cells (hemoglobin vesicles, Hb-Vs) as photosensitizers in dye laser treatment (at 595-nm wavelength) for port-wine stains (i.e., capillary malformations presenting as red birthmarks) based on the results of animal experiments. As compared with human red blood cells, Hb-Vs have the same absorbance of 595 nm wavelength light and produce the same level of heat following dye laser irradiation. Small sized Hb-Vs (250 nm) distribute in the plasma phase in blood and tend to flow in the marginal zone of microvessels...
April 13, 2017: Journal of Functional Biomaterials
https://www.readbyqxmd.com/read/28401589/rhodoid-nevus-syndrome-why-is-this-name-preferable-to-%C3%A2-capillary-malformation-arteriovenous-malformation%C3%A2
#5
Rüdiger Panzer, Rudolf Happle, Regina Fölster-Holst
Until today, the term capillary malformation (CM) designates many quite different skin disorders.(1) One of them - called capillary malformation-arteriovenous malformation (CM-AVM)(2) - represents an autosomal dominant trait caused by mutations in RASA1.(3) We here describe the characteristic CMs of this trait in a child whithout any AVM, and provide arguments why the term CM-AVM should be replaced by "rhodoid nevus syndrome". This article is protected by copyright. All rights reserved.
April 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#6
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28399335/recent-advances-in-orbital-tumors-a-review-of-publications-from-2014-2016
#7
Santosh G Honavar, Fairooz P Manjandavida
The aim of this review article is to provide an update of the current literature on orbital tumors. The authors conducted a PubMed literature search of English language articles published between January 2014 and December 2016 using the following search items: orbit, tumors, lacrimal gland, lymphoma, hemangioma, lymphangioma. The authors included reviews, original articles, case series, and case reports with relevant new information. There is new information about the clinical spectrum of orbital tumors, capillary hemangioma, cavernous hemangioma, lymphangioma, orbital venous malformation, lacrimal gland tumors, and orbital lymphoma...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28345735/-supratentorial-cavernous-malformations-in-an-argentinian-institution-experience-with-surgical-treatment
#8
G E Vergara, A Cervio, M Farez, R Mormandi, S Condomi-Alcorta, J Salvat
INTRODUCTION: Cavernous malformations are vascular malformations of the central nervous system formed by a group of capillaries not covered by pia mater and communicated to the vascular system at very low pressure with very slow flow. Surgery or radiosurgery are the treatment modalities. AIMS: To analyze our results after surgical treatment of supratentorial cavernous malformations, reviewing clinical presentation, surgical indications and postoperative complications...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28314534/total-cavopulmonary-connection-with-a-new-bioabsorbable-vascular-graft-first-clinical-experience
#9
Leo A Bockeria, Oleg Svanidze, Alex Kim, Konstantin Shatalov, Vladimir Makarenko, Martijn Cox, Thierry Carrel
OBJECTIVES: To assess safety and clinical performance of a novel bioabsorbable vascular graft in pediatric patients with univentricular cardiac malformation who received surgical correction via an extracardiac cavopulmonary conduit. METHODS: The implanted graft material is designed to attract patient's own cells and proteins, which trigger a cascade of physiological events leading to endogenous tissue restoration. As the graft resorbs progressively after implantation, components of native tissue including collagen, endothelial lining, and capillary blood vessels develop and organize into a natural tissue...
February 7, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#10
Sung-Min Park, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28285997/ccm-3-promotes-c-%C3%A2-elegans-germline-development-by-regulating-vesicle-trafficking-cytokinesis-and-polarity
#11
Swati Pal, Benjamin Lant, Bin Yu, Ruilin Tian, Jiefei Tong, Jonathan R Krieger, Michael F Moran, Anne-Claude Gingras, W Brent Derry
Cerebral cavernous malformations (CCMs) are vascular defects of the CNS that arise from loss of integrity of the endothelial cells lining blood capillaries, causing leakage of blood into the brain [1]. This results in headaches, seizures, and/or hemorrhagic stroke, depending on the location of the lesion. CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28285560/prospective-pilot-study-on-combined-use-of-pulsed-dye-laser-and-1-topical-rapamycin-for-treatment-of-non-facial-cutaneous-capillary-malformation
#12
Eun Jin Doh, Jungyoon Ohn, Min Ji Kim, Young Gull Kim, Soyun Cho
BACKGROUND: The regeneration or revascularization of blood vessels after pulsed dye laser (PDL) treatment is one of the causes of treatment failures of cutaneous capillary malformations (CM). Recently, topical administration of rapamycin was introduced as a possible adjunctive therapeutic option to minimize post-laser revascularization in facial CM. OBJECTIVES: We evaluated the effect of combined use of 1% topical rapamycin with PDL compared to PDL alone in cutaneous CM of trunk or extremities and tried to identify the optimal duration of topical rapamycin application...
March 13, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28256047/maternal-mutations-of-foxf1-cause-alveolar-capillary-dysplasia-despite-not-being-imprinted
#13
Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Franck Court, Isabel Gazquez Serrano, Loreto Martorell, Carlota Rovira Zurriaga, Gudrun E Moore, Miho Ishida, Montserrat Castañon, Elisenda Moliner Calderon, David Monk, Julio Moreno Hernando
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation...
March 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28210642/high-output-heart-failure-contributing-to-recurrent-epistaxis-kiesselbach-area-syndrome-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#14
Venugopal Brijmohan Bhattad, Jennifer N Bowman, Hemang B Panchal, Timir K Paul
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28157750/management-of-unruptured-intracranial-aneurysms-and-cerebrovascular-malformations
#15
Kelly D Flemming, Giuseppe Lanzino
PURPOSE OF REVIEW: Unruptured intracranial aneurysms and vascular malformations are detected more frequently because of the increased use and availability of brain imaging. Management of these entities requires knowledge of which patients are at high risk for hemorrhage and what treatment options are available. This article summarizes the epidemiology, natural history, and management strategies for unruptured intracranial aneurysms, arteriovenous malformations, cavernous malformations, developmental venous anomalies, and capillary telangiectasias...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28139503/endoscopic-resection-of-asymptomatic-colonic-polypoid-arteriovenous-malformations-two-case-reports-and-a-literature-review
#16
Han-Hee Lee, Hyuk-Min Kwon, Sanghyun Gil, Young-Shin Kim, Minjung Cho, Kyung-Jin Seo, Hiun-Suk Chae, Young-Seok Cho
A colonic arteriovenous malformation (AVM) is a significant vascular lesion of the gastrointestinal tract and a common cause of lower gastrointestinal bleeding. AVMs are usually identified endoscopically as bright red, flat lesions. AVMs with a polypoid appearance are extremely rare in the large intestine. We present two cases of colonic polypoid AVM, which were detected incidentally during screening colonoscopy. Both the patients had no history of gastrointestinal bleeding such as melena or hematochezia. Colonoscopy revealed pedunculated polyps overlaid by hyperemic mucosa in the ascending colon and proximal sigmoid colon...
January 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28120216/a-somatic-gna11-mutation-is-associated-with-extremity-capillary-malformation-and-overgrowth
#17
Javier A Couto, Ugur M Ayturk, Dennis J Konczyk, Jeremy A Goss, August Y Huang, Steve Hann, Jennifer L Reeve, Marilyn G Liang, Joyce Bischoff, Matthew L Warman, Arin K Greene
BACKGROUND: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. We hypothesized that mutations in GNA11 or GNA14, genes closely related to GNAQ, also may cause capillary malformations...
January 24, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#18
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#19
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28079942/treatment-of-capillary-malformation-using-topical-timolol-combined-with-585-nm-pulsed-dye-laser-a-prospective-randomized-split-lesion-study
#20
Sang-Jin Cheon, Woo-Haing Shim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Capillary malformation (CM) is a congenital vascular malformation characterized by the dilation of superficial dermal blood vessels.(1)  Currently, pulsed dye laser (PDL) is considered the gold standard for the treatment of CM.(1)  However, its use results in incomplete clearance despite multiple sessions and relapses during long-term follow-up.(1)  Alternative methods are needed to achieve improved therapeutic results. This article is protected by copyright. All rights reserved.
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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