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https://www.readbyqxmd.com/read/29166516/proteus-syndrome
#1
Ritha de Cássia Capelato Rocha, Mariani Paulino Soriano Estrella, Danielle Mechereffe do Amaral, Angela Marques Barbosa, Marilda Aparecida Milanez Morgado de Abreu
Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29159152/cranial-nerve-palsy-after-onyx-embolization-as-a-treatment-for-cerebral-vascular-malformation
#2
Jong Min Lee, Kum Whang, Sung Min Cho, Jong Yeon Kim, Ji Woong Oh, Youn Moo Koo, Chul Hu, Jinsoo Pyen, Jong Wook Choi
The Onyx liquid embolic system is a relatively safe and commonly used treatment for vascular malformations, such as arteriovenous fistulas and arteriovenous malformations. However, studies on possible complications after Onyx embolization in patients with vascular malformations are limited, and the occurrence of cranial nerve palsy is occasionally reported. Here we report the progress of two different types of cranial nerve palsy that can occur after embolization. In both cases, Onyx embolization was performed to treat vascular malformations and ipsilateral oculomotor and facial nerve palsies were observed...
September 2017: Journal of Cerebrovascular and Endovascular Neurosurgery
https://www.readbyqxmd.com/read/29157478/treatment-of-low-flow-vascular-malformations-of-the-extremities-using-mr-guided-high-intensity-focused-ultrasound-preliminary-experience
#3
Pejman Ghanouni, Sirish Kishore, Matthew P Lungren, Rachelle Bitton, Lauren Chan, Raffi Avedian, Alberto Bazzocchi, Kim Butts Pauly, Alessandro Napoli, David M Hovsepian
Five patients with painful vascular malformations of the extremities that were refractory to standard treatment and were confirmed as low-flow malformations on dynamic contrast-enhanced magnetic resonance (MR) imaging were treated with MR imaging-guided high intensity focused ultrasound. Daily maximum numeric rating scale scores for pain improved from 8.4 ± 1.5 to 1.6 ± 2.2 (P = .004) at a median follow-up of 9 months (range, 4-36 mo). The size of the vascular malformations decreased on follow-up MR imaging (median enhancing volume, 8...
December 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/29151912/duodenal-angiomyolipoma-with-multiple-systemic-vascular-malformations-and-aneurysms-a-case-report-and-literature-review
#4
Yiqiu Wang, Xiuli Zhang, Peng Liu, Guan Jiang, Wenlou Liu
Angiomyolipomas (AMLs) are barely benign mesenchymal tumors that usually occur in the kidneys and may be associated with tuberous sclerosis complex (TSC). Extrarenal AMLs are markedly rare and infrequently observed in the duodenum. In the present case report, a 22-year-old female patient with duodenal AMLs presenting multiple systemic vascular malformations and aneurysms is described. The patient had a medical history of aneurysm rupture of the right subclavian artery and no other manifestation of TSC. Surgical intervention was performed...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29148179/clinical-implications-of-de-barsy-syndrome
#5
Lindsay L Warner, David A Olsen, Hugh M Smith
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. AIMS: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. METHODS: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29147966/polyamine-concentration-is-increased-in-thoracic-ascending-aorta-of-patients-with-bicuspid-aortic-valve
#6
Amalia Forte, Mario Grossi, Ciro Bancone, Marilena Cipollaro, Marisa De Feo, Per Hellstrand, Lo Persson, Bengt-Olof Nilsson, Alessandro Della Corte
Polyamines are cationic molecules synthesized via a highly regulated pathway, obtained from the diet or produced by the gut microbiota. They are involved in general molecular and cellular phenomena that play a role also in vascular disease. Bicuspid aortic valve (BAV) is a congenital malformation associated to a greater risk of thoracic ascending aorta (TAA) aneurysm, whose pathogenesis is not yet well understood. We focused on differential analysis of key members of polyamine pathway and on polyamine concentration in non-dilated TAA samples from patients with either stenotic tricuspid aortic valve (TAV) or BAV (diameter ≤ 45 mm), vs...
November 17, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/29147813/noninvasive-induction-of-angiogenesis-in-tissues-by-external-suction-sequential-optimization-for-use-in-reconstructive-surgery
#7
G Giatsidis, L Cheng, A Haddad, K Ji, J Succar, L Lancerotto, J Lujan-Hernandez, P Fiorina, H Matsumine, D P Orgill
In reconstructive surgery, tissues are routinely transferred to repair a defect caused by trauma, cancer, chronic diseases, or congenital malformations; surgical transfer intrinsically impairs metabolic supply to tissues placing a risk of ischemia-related complications such as necrosis, impaired healing, or infection. Pre-surgical induction of angiogenesis in tissues (preconditioning) can limit postsurgical ischemic complications and improve outcomes, but very few preconditioning strategies have successfully been translated to clinical practice due to the invasiveness of most proposed approaches, their suboptimal effects, and their challenging regulatory approval...
November 17, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29145060/familial-cerebral-cavernous-malformation-report-of-a-novel-krit1-mutation-in-a-portuguese-family
#8
Inês Rosário Marques, Francisco Antunes, Nadine Ferreira, Miguel Grunho
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis...
November 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29144050/fibroadipose-vascular-anomaly-treated-with-sirolimus-successful-outcome-in-two-patients
#9
Jonathan Erickson, William McAuliffe, Lewis Blennerhassett, Anne Halbert
Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow-flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29142484/contemporary-management-of-pulmonary-arteriovenous-malformations
#10
REVIEW
Nicholas Rauh, John Gurley, Sibu Saha
Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Advancements in diagnostic methods and operative techniques have allowed for more effective treatment of the disease...
December 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/29141890/british-thoracic-society-clinical-statement-on-pulmonary-arteriovenous-malformations
#11
Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort
Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals...
December 2017: Thorax
https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#12
Katelyn Mariko Updyke, Amor Khachemoune
<p>Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29139152/giant-intracranial-arteriovenous-malformation-as-the-focus-of-epileptic-seizures
#13
Mio Takayama, Kenji Hara, Aya Matsusue, Brian Waters, Natsuki Ikematsu, Masayuki Kashiwagi, Shin-Ichi Kubo
A man in his late thirties was found in a supine position in the hallway of his house. He had been diagnosed with epilepsy at approximately 20 years old. Since stopping treatment, epileptic events occurred more frequently and his condition deteriorated in the past 2 years. Autopsy revealed that head injuries were found on the left side of his head. A fracture from the left parietal bone to the anterior cranial fossa was also detected. A subdural hemorrhage (hematoma) spanned a wide range. A subarachnoid hemorrhage was also identified in the left parietal region...
November 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29137915/first-line-direct-access-for-transarterial-embolization-of-a-dural-arteriovenous-fistula-case-report-and-literature-review
#14
Brent J Doolan, Iddo Paldor, Peter J Mitchell, Andrew P Morokoff
Intracranial dural arteriovenous fistulae (DAVF) are complex vascular malformations consisting of a pathological shunt located between meningeal arteries and drainage to dural venous sinuses and/or cerebral veins. We report an unusual anatomical variation, resulting in a DAVF forming between the superior sagittal sinus and an anomalous origin of the middle meningeal artery (MMA) arising from the left ophthalmic artery. We present an atypical case requiring mini-craniotomy for catheter access, as well as cannulation of extracranial arterial supply prior to embolization of a Cognard type IIa+b fistula...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29137094/a-novel-non-contrast-enhanced-mra-using-silent-scan-for-evaluation-of-brain-arteriovenous-malformation-a-case-report-and-review-of-literature
#15
Jin Il Moon, Hye Jin Baek, Kyeong Hwa Ryu, Hyun Park
RATIONALE: Brain arteriovenous malformations (AVMs) are congenital vascular abnormalities involving abnormal connections between arteries and veins. In clinical practice, imaging studies help evaluate feeding arteries, niduses, draining venous systems, and coexisting complications in patients with brain AVM. They also have an impact on decision-making regarding clinical management. We applied a novel non-contrast-enhanced MR angiography (MRA) technique, termed "silent MRA," for evaluating an incidental brain AVM...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136059/concurrent-sturge-weber-syndrome-facial-infantile-hemangioma-and-cutis-marmorata-telangiectatica-congenita
#16
Nina Poliak, Anthony Rainey
We present a unique case of 3 vascular malformations-Sturge-Weber syndrome (SWS), facial infantile hemangioma (IH), and cutis marmorata telangiectatica congenita (CMTC)-with dermatologic manifestations presenting in the same patient. This case highlights the possibility of occurrence of multiple vascular malformations in the same patient; the potential role of epigenetic factors; and the importance of a multidisciplinary approach to diagnose, treat, and manage this complicated interplay of vascular abnormalities to achieve the best outcome...
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29133713/three-dimensional-model-printing-for-surgery-on-arteriovenous-malformations
#17
Abhidha Shah, Bhavin Jankharia, Atul Goel
AIM: Surgery for intracranial complex vascular malformations can be quite exigent and involves considerable preoperative planning. Here, we present the advantages of using three-dimensional (3D) printed models as a preoperative investigational modality. MATERIAL AND METHODS: 3D printed models were made from thin-slice computed tomography (CT) angiography scans of 6 patients with arteriovenous malformations over an18-month period from August 2015 to December 2016...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29133151/laparoscopic-management-of-a-rudimentary-uterine-horn
#18
Emilie Faller, Jean Jacques Baldauf, François Becmeur, Anne Lehn, Cherif Youssef Akladios, Lise Lecointre
STUDY OBJECTIVE: To demonstrate a technique of laparoscopic management of a rudimentary horn in a 12-year-old girl. DESIGN: A step-by-step explanation of the surgery using video (instructive video), approved the local institutional Review Board. SETTING: A university hospital, University Hospital of Strasbourg, France. PATIENT: A 12-year-old girl with a uterine rudimentary horn. INTERVENTION: We describe the case of a 12 years old girl who had no medical history...
November 10, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29130853/endovascular-treatment-of-12-cases-of-renal-arteriovenous-malformations-the-experience-of-1-center-and-an-overview-of-the-literature
#19
Zhen-Yu Jia, Chun-Gao Zhou, Jin-Guo Xia, Lin-Bo Zhao, Wen Zhang, Sheng Liu, Hai-Bin Shi
OBJECTIVES: Congenital renal arteriovenous malformations (rAVMs) represent rare vascular diseases. The heterogeneous vascular architecture of each rAVM determines the endovascular treatment techniques employed. We reported our experience with the endovascular treatment of a series of rAVMs. MATERIALS: This retrospective study consisted of 12 patients with 12 rAVMs who underwent renal arterial embolization (RAE) in our hospital. Embolic materials, including particles, liquid embolic agents (n-butyl 2-cyanoacrylate, Onyx, and ethanol), and coils, were selectively used based on the decisions of interventional radiologists...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29129347/international-society-for-the-study-of-vascular-anomalies-classification-of-soft-tissue-vascular-anomalies-survey-based-assessment-of-musculoskeletal-radiologists-use-in-clinical-practice
#20
Shivani Ahlawat, Laura M Fayad, Daniel J Durand, Kate Puttgen, Aylin Tekes
AIM: There is controversy regarding the diagnosis and classification of vascular anomalies (VA). As torso and extremities are the second most common body part for presentation of VAs, musculoskeletal (MSK) radiologists play a central role in VA classification. The purpose of this study was to evaluate the awareness and clinical use of the International Society for the Study of Vascular Anomalies (ISSVA) classification by MSK radiologists. MATERIALS AND METHODS: A Web-based survey was designed and electronically sent to Society of Skeletal Radiology (SSR) members, with 3 questions on demographics and 7 questions on ISSVA classification use and knowledge...
October 16, 2017: Current Problems in Diagnostic Radiology
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