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Capillary malformation

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https://www.readbyqxmd.com/read/29774401/high-levels-of-serum-sclerostin-and-dkk1-in-a-case-of-klippel-tr%C3%A3-naunay-syndrome
#1
P Muto, A Lo Gullo, G Mandraffino, S Loddo, M Atteritano
Klippel-Trénaunay syndrome (KTS) is described as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with bone and soft tissue hypertrophy. We report a case of a 67-year-old postmenopausal Caucasian women with KTS that shows elevated levels of sclerostin and Dickkopf-related protein 1 (DKK1). Dual-energy X-ray absorptiometry (DXA) BMD T-scores at lumbar spine and femur were normal. Serum calcium and phosphorus levels were consistently normal, 25-hydroxyvitamin D (25OHD) < 30 ng/mL, and normal parathyroid hormone (PTH)...
May 17, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29774173/role-of-interventional-radiology-in-the-management-of-peripheral-vascular-malformations-a-tertiary-care-center-experience
#2
Misbah Tahir, Muhammad Anees Mumtaz, Anum Sultan, Jawaid Iqbal, Raza Sayani
Peripheral vascular malformations (PVMs) represent a wide spectrum of vascular abnormalities occurring due to anomalous connections between arteries, veins, capillaries, and lymphatic channels at the microscopic level, in different combinations. They are rare and challenging to treat. Different operators may have different approaches based on their experience and expertise. Sclerotherapy either alone or in combination with embolization has been used as an independent method for the treatment of PVMs. Purpose The aim of this study is to assess the safety and efficacy of sclerotherapy and embolization, with or without surgery, for the treatment of peripheral vascular malformations, based on our approach...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29773423/management-of-giant-embryonic-vein-in-klippel-tr%C3%A3-naunay-syndrome
#3
Animesh Rathore, Peter Gloviczki, Haraldur Bjarnason
Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. He was then managed surgically with preoperative placement of an inferior vena cava filter (because of a history of deep venous thrombosis and pulmonary embolism), followed by resection of the lateral embryonic vein, ligation of large perforators, and excision of smaller varicosities...
May 14, 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29766551/lower-lip-capillary-malformation-associated-with-lymphatic-malformation-without-overgrowth-part-of-the-spectrum-of-clapo-syndrome
#4
Camila Downey, Juan Carlos López-Gutiérrez, Esther Roé-Crespo, Luis Puig, Eulalia Baselga
Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA.
May 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29753575/quantitative-apparent-diffusion-coefficient-mapping-may-predict-seizure-onset-in-children-with-sturge-weber-syndrome
#5
Anna L R Pinto, Yangming Ou, Mustafa Sahin, P Ellen Grant
BACKGROUND: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS. METHODS: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy...
April 12, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#6
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29747348/-cerebral-cavernous-malformation-3-gene-deficiency-promotes-early-changes-in-alzheimer-disease-like-lesions-induced-by-low-lead-exposure
#7
S Wu, D Xia, H X Liu, H P Zhao, X H Wang, Y F Gao, Z Q Zhao, C Xiao, X M Xing, Y He
Objective: To investigate the effects of cerebral cavernous malformation 3 (CCM3) gene knockout on the lead exposure-induced blood-brain barrier malfunction in mice brain, and the relationship between CCM3 knockout and the Alzheimer's disease (AD). Methods: Wide type (WT) mice and CCM3(+)/- mice were divided into 4 groups, control group and lead exposed group in WT as well as CCM3(+/-) mice. Lead exposed groups were treated with 0.05% lead acetate in drinking water for 12 weeks, while control group drink deionized water freely...
May 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29718888/placental-transmogrification-of-the-lung-presenting-as-a-peripheral-solitary-nodule-in-a-male-with-the-history-of-trauma-a-case-report
#8
Man Yang, Xue-Ting Zhang, Xiao-Fang Liu, Xu-Yong Lin
RATIONALE: Placental transmogrification of the lung is a very rare lesion which was characterized by the presence of papillae resembling placental villi. Its pathogenesis still remains unclear. Some authors think that this lesion is congenital and related to hamartoma, and others advocate it is secondary change after emphysema. So far, the majority of reported cases manifested as bullous lesions, to our knowledge , only two cases presented as a solitary nodule. PATIENT CONCERNS: Herein, we report the third case presenting as a small nodule in a 49-year-old male...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29718471/microarteriovenous-malformations-value-of-indocyanine-green-fluorescence-and-nuances-of-surgical-excision-2-dimensional-operative-video
#9
Thomas J Sorenson, Lucas Carlstrom, Giuseppe Lanzino
MicroAVMs (microarteriovenous malformation) are arteriovenous shunts with a nidus smaller than 1 centimeter.1 They are typically diagnosed after hemorrhage. When the nidus is very small, diagnosis can be challenging even on catheter angiography and careful examination of the arterial and capillary phases is required to identify the early shunt. Because of the very small size, identification and localization of the actual AV shunt can be problematic during surgical exploration. Advances in frameless stereotactic neuronavigation and the introduction of intraoperative indocyanine green (ICG) fluorescein provide useful adjuncts in the surgical treatment of these relatively uncommon lesions...
April 27, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29701624/efficacy-and-safety-of-a-novel-method-of-insulated-intralesional-radiofrequency-ablation-for-deep-dermal-and-subcutaneous-lesions-a-3-year-institutional-experience
#10
Sweta Subhadarshani, Vishal Gupta, Neha Taneja, Savita Yadav, Somesh Gupta
BACKGROUND: Although insulated intralesional radiofrequency ablation (IL-RFA) is being increasingly used in other specialties, not much information on its safety and efficacy in dermatology is available. OBJECTIVE: To describe our experience with insulated IL-RFA for various dermatological conditions. METHODS: This is a retrospective review of the patients who underwent IL-RFA in the past 3 years. Our technique involved creating a small window in the proximal end of plastic sheath of an intravenous cannula using a surgical blade, and then touching the RF probe to the cannula through the window to deliver the electric current...
May 2018: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/29697621/vascular-anomalies-from-a-clinicohistologic-to-a-genetic-framework
#11
Arin K Greene, Jeremy A Goss
BACKGROUND: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic mutations in most types of vascular anomalies. The purpose of this study was to collate information regarding the genetic basis of vascular anomalies. METHODS: The PubMed literature was reviewed for all citations that identified a mutation in a vascular anomaly between 1994 and 2017...
May 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29656986/eight-and-a-half-syndrome-a-combination-of-intracranial-capillary-telangiectasia-and-hematencephalon
#12
Wei Li, Deren Hou, Yanyao Deng, Yi Tian
Eight-and-a-half syndrome, a combination of one-and-a-half syndrome and ipsilateral facial palsy, was first described by Eggenberger in 1998. Intracranial capillary telangiectasia (ICT) is a rare type of latent cerebral vascular malformation characterized by a number of small, dilated, and thin-walled blood capillaries with normal brain tissues between them. Susceptibility weighted imaging is the recommended diagnostic method to detect ICT. Oommen once reported 1 case about pontine hemorrhage causing Fisher one-and-a-half syndrome with facial paralysis...
April 12, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29611866/gamma-knife-radiosurgery-for-arteriovenous-malformations-general-principles-and-preliminary-results-in-a-swiss-cohort
#13
Matthieu Raboud, Constantin Tuleasca, Philippe Maeder, Luis Schiappacasse, Maud Marguet, Roy Thomas Daniel, Marc Levivier
INTRODUCTION: Arteriovenous malformations (AVMs) are a type of vascular malformation characterised by an abnormal connection between arteries and veins, bypassing the capillary system. This absence of capillaries generates an elevated pressure (hyperdebit), in both the AVM and the venous drainage, increasing the risk of rupture. Management modalities are: observation, microsurgical clipping, endovascular treatment and radiosurgery. The former can be used alone or in the frame of a multidisciplinary approach...
April 3, 2018: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29571951/-benign-aggressive-vascular-anomalies-in-children
#14
REVIEW
Olivia Boccara, Annabel Maruani, Christine Léauté-Labrèze
Superficial vascular anomalies constitute a large group of malformative and tumoral conditions developed from all types of vessels. Vascular tumors are the result of cellular hyperplasia, whereas vascular malformations (VMs) are constituted of dysplastic vessels. The classification from International Society for the Study of Vascular Anomalies (ISSVA) is based on this pathogenic difference. The most common vascular tumor is infantile hemangioma, which treatment, when necessary, is propranolol. Congenital hemangiomas and tumors that might be complicated with Kasabach-Merritt phenomenon, i...
March 20, 2018: Bulletin du Cancer
https://www.readbyqxmd.com/read/29563389/vitamin-b-3-nicotinamide-a-promising-candidate-for-treating-preeclampsia-and-improving-fetal-growth
#15
Nobuyuki Takahashi, Feng Li, Tomofumi Fushima, Gen Oyanagi, Emiko Sato, Yuji Oe, Akiyo Sekimoto, Daisuke Saigusa, Hiroshi Sato, Sadayoshi Ito
Up to 8% of pregnant women suffer from preeclampsia (PE), a deadly disease characterized by high blood pressure (BP), blood vessel damage, called endotheliosis (vascular endothelial swelling with narrowing of capillary lumen), and high levels of protein in the urine. PE is often associated with premature delivery, which is a risk factor of cardiovascular and metabolic diseases among the offspring. Accordingly, establishing drug treatments of PE is in immediate needs. Currently, many of anti-hypertensive drugs cause malformation of the fetuses and are contraindicated for pregnant women...
March 2018: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29554392/retinal-arteriovenous-malformation-assessment-using-swept-source-oct-angiography
#16
Rohan Chawla, Amar Pujari, Kanhaiya Mittal, Vaishali Rakheja, Ashish Markan
Swept-source optical coherence tomography angiography (SS-OCTA) is a promising new imaging modality for assessing retinal and choroidal vasculature. Faster scanning speed, large number of A-scan acquisition, and enhanced depth penetration has enhanced the detailed analysis of retinal layers. The authors discuss SS-OCTA features of a rare case of retinal arteriovenous malformation. Image analysis revealed the anomalous large-caliber vessels occupying up to the entire retinal thickness with associated echolucent changes in the inner retinal layers surrounding the retinal vessels, along with disruption of the outer retinal layers, including the inner/outer segments of photoreceptors beneath the large tortuous vessels outside the foveola in absence of any capillary nonperfusion areas or lack of significant macular edema...
March 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29549527/in-vitro-efficacy-of-arq-092-an-allosteric-akt-inhibitor-on-primary-fibroblast-cells-derived-from-patients-with-pik3ca-related-overgrowth-spectrum-pros
#17
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29548952/cerebellar-proliferative-angiopathy-associated-with-a-pontine-telangiectasia-and-a-developmental-venous-anomaly
#18
Marcelo D Vilela, Uedson Tazinaffo
Various mixed associations between arteriovenous malformations, cavernous malformations, developmental venous anomalies and capillary telangiectasias have been described and a common pathophysiological event has been suggested to be present, although yet to be elucidated. We depict herein the imaging features of a patient who presented with a spontaneous cerebellar hemorrhage, in whom radiological studies demonstrated a pontine telangiectasia, a brainstem/cerebellar developmental venous anomaly and a cerebellar proliferative angiopathy...
March 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29494725/congenital-retinal-macrovessel-and-the-association-of-retinal-venous-malformations-with-venous-malformations-of-the-brain
#19
Francesco Pichi, K Bailey Freund, Antonio Ciardella, Mariachiara Morara, Emad B Abboud, Nicola Ghazi, Christine Dackiw, Netan Choudhry, Eduardo Cunha Souza, Leonardo Provetti Cunha, J Fernando Arevalo, T Y Alvin Liu, Adam Wenick, Lingmin He, Guadalupe Villarreal, Piergiorgio Neri, David Sarraf
Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. Objective: To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. Design, Setting, and Participants: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017)...
April 1, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29493003/phosphatidylinositol-4-5-bisphosphate-3-kinase-catalytic-subunit-alpha-pik3ca-related-overgrowth-spectrum-a-brief-report
#20
Pieter Denorme, Marie-Anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
May 2018: Pediatric Dermatology
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