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Capillary malformation

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https://www.readbyqxmd.com/read/28523092/management-of-a-life-threatening-bleeding-following-extraction-of-deciduous-second-molar-related-to-a-capillary-haemangioma
#1
REVIEW
Amr Amin Ghanem, Yasser Nabil El Hadidi
Various forms of vascular lesion affect the head and neck region. The head and neck vascular lesions are classified into neoplasms and malformations. Neoplasm presents either as hemangioma or lymphangioma; neoplasm usually presents in young age compared with vascular malformation. A 9-year-old female patient presented to the outpatient clinic referred from the department of pedodontics after extraction of a right mandibular second deciduous molar. Extraction was done by dental GP in outpatient clinic. Massive bleeding followed the extraction...
June 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#2
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#3
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28488085/novel-loss-of-function-mutation-in-krit1-ccm1-is-associated-with-distinctly-progressive-cerebral-and-spinal-cavernous-malformations-after-radiochemotherapy-for-intracranial-malignant-germ-cell-tumor
#4
Alexandra Russo, Marie Astrid Neu, Johanna Theruvath, Bettina Kron, Arthur Wingerter, Silla Hey-Koch, Yasemin Tanyildizi, Joerg Faber
PURPOSE: Cerebrospinal cavernous malformations (CCMs) are vascular lesions characterized by dilated and leaky capillary caverns. CCMs can cause seizures, focal neurological deficits or acute intracranial hemorrhage; however, most patients are asymptomatic. CCMs occur either sporadically or as a familial autosomal-dominant disorder. We present a clinical and molecular study of a patient with distinctive cerebral and spinal cavernous malformations following radiochemotherapy for a malignant brain tumor...
May 9, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28473356/a-case-of-pulsatile-scalp-swelling-in-a-child
#5
Daisy Khera, Pushpinder Singh Khera, Arvind Sinha, Neeraj Mehta
Arteriovenous fistulas (AVF) are an entity most commonly seen in the head and neck region. An AVF is a direct connection between the arterial feeders and the draining veins without intervening capillary beds (unlike an arteriovenous malformation in which a nidus intervenes between the arteries and veins). We describe a case of traumatic AVF in a child aged 9 years, who presented with a pulsatile scalp swelling following blunt trauma to the head. It turned out to be an AVF between the superficial temporal artery and vein...
May 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28469849/antenatal-gastrointestinal-anomalies-in-neonates-subsequently-found-to-have-alveolar-capillary-dysplasia
#6
Dimple Goel, Ju Lee Oei, Kei Lui, Meredith Ward, Antonia W Shand, David Mowat, Andrew J Gifford, Christine Loo
Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28466404/vascular-anomalies-a-pediatric-surgeon-s-perspective
#7
Alisha Gupta, Ajay Verma, Anjan Dhua, Veereshwar Bhatnagar
Anomalies affecting the capillary and venous channels form the bulk of the spectrum of vascular anomalies. As per International Society for the Study of Vascular Anomalies (ISSVA) classification, these are referred to as hemangiomas and venous malformations respectively. The present article is a descriptive note of their management and outcomes. Retrospective records of patients over 17 y (January 2000 through December 2016) were reviewed for presentation, management and outcomes. Outcomes were graded into 3 subgroups based on subjective assessment of clinical images: Group A = near-total response (>90%); Group B = 50-90% and Group C = <50% reduction...
May 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28465402/a-systematic-characterization-of-the-factors-influencing-polymerization-and-dynamic-behavior-of-n-butyl-cyanoacrylate
#8
Bill H Wang, Melfort Boulton, Donald H Lee, David M Pelz, Stephen P Lownie
INTRODUCTION: Brain arteriovenous malformations are abnormal connections between arteries and veins without an intervening capillary bed. Endovascular glue embolization with N-butyl cyanoacrylate (NBCA) is an accepted form of treatment. The reported complication rates vary widely from 2% to 15%, and timing of polymerization appears to play a major role. Additionally, the interaction between NBCA and vessel surface as well as the presence of biological catalysts are poorly understood. METHODS: Polymerization time was measured for mixtures of Lipiodol/NBCA of 50/50, 70/30, and 60/40...
May 2, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28432681/retrospective-single-center-study-of-the-efficacy-of-large-spot-532%C3%A2-nm-laser-for-the-treatment-of-facial-capillary-malformations-in-44-patients-with-the-use-of-three-dimensional-image-analysis
#9
Bartłomiej Kwiek, Michał Rożalski, Cezary Kowalewski, Marcin Ambroziak
OBJECTIVE: We wanted to asses the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations with the use of three-dimensional (3D) image analysis. STUDY DESIGN AND METHODS: Retrospective single center study on previously non-treated patients with facial capillary malformations (CM) was performed. A total of 44 consecutive Caucasian patients aged 5-66 were included. Patients had 3D photography performed before and after and had at least one single session of treatment with 532 nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser with contact cooling, fluencies ranging from 8 to 11...
April 22, 2017: Lasers in Surgery and Medicine
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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