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Capillary malformation

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https://www.readbyqxmd.com/read/28345735/-supratentorial-cavernous-malformations-in-an-argentinian-institution-experience-with-surgical-treatment
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28060116/angiokeratoma-of-tongue
#14
Satvinder S Bakshi
A 9 year old male presented with diffuse swelling on his tongue since childhood associated with intermittent bleeding. On examination there was multiple, sessile, firm, pinkish, erythematous, shiny papules on both dorsal and ventral surface of the tongue. Angiokeratomas are vascular malformations of capillaries characterized clinically by asymptomatic, solitary or multiple, keratotic papules or plaques, and histologically by benign vascular ectasia of the papillary dermis. Treatment usually consists of local excision and intralesional injection of steroids...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#15
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27990394/great-saphenous-vein-dilatation-with-reflux-at-the-saphenofemoral-junction-a-rare-underlying-association-of-eccrine-angiomatous-hamartoma
#16
Sanjiv Choudhary, Quazi Sabiha, Adarsh Lata Singh
Eccrine angiomatous hamartoma (EAH) is an exceedingly rare benign tumor-like lesion prevalent in childhood, which can produce pain and marked sweating. Histological features include proliferation of eccrine sweat glands and angiomatous capillary channels. It may be rarely associated with underlying pathological conditions. A 15-year-old female patient presented with multiple tender reddish papules and nodules coalescing to form plaques of 10 × 8 cm over the anterior aspect of the right lower thigh since birth...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27988892/immunolocalization-of-substance-p-and-nk-1-receptor-in-vascular-anomalies
#17
Alejandro Ortiz-Prieto, José Bernabeu-Wittel, Teresa Zulueta-Dorado, Ana I Lorente-Lavirgen, Miguel Muñoz
The peptide substance P (SP) shows a widespread distribution in both the central and peripheral nervous systems, but it is also ubiquitous in the human body. After binding to the neurokinin-1 (NK-1) receptor, SP regulates tumoral angiogenesis and proliferation. Thus, knowledge of this system is the key for a better understanding and, hence, a better management of many human diseases, including vascular anomalies (VA). This study aims to examine the expression and localization of both SP and the NK-1 receptor in different vascular anomalies using an immunohistochemical technique...
March 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/27941746/klippel-trenaunay-syndrome-a-case-report
#18
M N Islam, M A Hossain, M S Rahman, T Tazmin, M A Ali, F Sultana, S A Haque
Klippel Trenaunay syndrome refers to a rare congenital anomaly which is characterized by capillary malformation, venous malformation and sometimes lymphatic malformation associated with overgrowth of a limb, with soft tissue hypertrophy and/or bony hypertrophy. The anomaly, if present, is present at birth and usually involves the lower limbs as well as portion of trunk, face, uppper limb or head. Our reporting case is a preterm male neonate having port wine stain, varicose veins and excessive growth of soft tissue of left lower limb clinically consistent with Klippel Trenaunay Syndrome...
October 2016: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#19
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#20
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
February 2017: Pediatric Neurology
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