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Vascular malformations

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...
2018: Tohoku Journal of Experimental Medicine
Henry L Nguyen, George F Bonadurer, Megha M Tollefson
Importance: Patients with vascular malformations (VAMs) and vascular overgrowth syndromes have lower health-related quality of life (HRQoL) attributable to social stigmatization, poor mental health, severity, and pain. However, the factors that contribute to this decreased HRQoL are not clear. Objective: To perform a systematic review and meta-analysis of studies that used validated HRQoL instruments to compare the HRQoL of persons with VAMs with the US general population...
March 21, 2018: JAMA Dermatology
Matthijs In 't Veld, R Fronczek, J A de Laat, Henricus P M Kunst, Frederick J A Meijer, Peter W A Willems
OBJECTIVES: Finding the underlying cause for pulsatile tinnitus can be challenging. We aimed to determine the incidence of arteriovenous shunts, i.e., arteriovenous malformations (AVMs) or dural arteriovenous fistulas (dAVFs), in patients referred for catheter angiography (digital subtraction angiography [DSA]). Furthermore, we assessed which clinical features were predictive for the presence of such a lesion. STUDY DESIGN AND METHODS: Fifty-one patients with pulsatile tinnitus, who were referred to us for DSA to exclude an arteriovenous shunt, were enrolled, prospectively...
March 20, 2018: Otology & Neurotology
F Munell, M A Tormos, M Roig-Quilis
Brainstem dysgenesis designates all those patients with congenital dysfunction of cranial nerves and muscle tone due to prenatal lesions or malformations of the brainstem. This generic term has the advantage over the eponyms Moebius 'expanded' or 'unrestricted', Robin, Cogan or Carey-Fineman-Ziter syndromes in that it has a less restrictive view and provides a frame work that enables a systematic approach to diagnosis and research of most developmental disorders involving the brainstem. The review of the literature and our experience shows that infants with a predominant rombencephalic involvement are due to brainstem prenatal disruptive vascular accidents, while cases with midbrain and cerebellar involvement and widespread malformative syndromes have most likely an underlying genetic cause...
April 1, 2018: Revista de Neurologia
Mohamad Abbass, Michael K Tso, Ezekiel Weis, Alim P Mitha
BACKGROUND: Orbital lymphaticovenous malformations (LVM) are congenital vascular lesions that are typically infiltrative in nature. There have been reports of orbital LVMs extending intracranially through orbital fissures, but there have been no reports of intradural extension. CASE DESCRIPTION: We report the first case of orbital LVM extending intradurally through a bony defect in the medial orbital roof. A modified orbitozygomatic approach was used to successfully obliterate this lesion...
March 16, 2018: World Neurosurgery
Amir Shaban, Toshio Moritani, Sami Al Kasab, Ali Sheharyar, Kaustubh S Limaye, Harold P Adams
BACKGROUND AND PURPOSE: Spinal cord hemorrhages are rare conditions that can be classified based on the primary location of bleeding into intramedullary (hematomyelia), subarachnoid hemorrhage (SAH), subdural hemorrhage, and epidural hemorrhage. We conducted a literature review to better understand the presenting symptoms, etiology, diagnosis, and treatment of spinal cord hemorrhages. METHODS: We performed a literature search using PubMed with the key words spinal hemorrhage, hematomyelia, spinal subarachnoid hemorrhage, spinal subdural hematoma, and spinal epidural hematoma RESULTS: Most commonly, spinal hematomas present with acute onset of pain and myelopathy but a more insidious course also may occur...
March 16, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Tomotaka Ohshima, Shigeru Miyachi, Naoki Matsuo, Reo Kawaguchi, Aichi Niwa, Ryuya Maejima, Taiki Isaji, Masakazu Takayasu
BACKGROUND AND PURPOSE: We report a secure endovascular approach for the treatment of vascular lesions of the posterior circulation. Even if a large profile guide catheter is wedged in the unilateral vertebral artery (VA), our VA flow reversal method can prevent ischemic complications, including the spinal cord infarction. CASE PRESENTATION: The patient was a 64-year-old woman who had been followed up for arteriovenous malformation (AVM) and an unruptured aneurysm of the basilar artery-superior cerebellar artery bifurcation...
March 16, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
A Bolívar Puente, F de Asís Bravo Rodríguez, I Bravo Rey, E Roldán Romero
Intracranial developmental venous anomalies are the most common vascular malformation. In the immense majority of cases, these anomalies are asymptomatic and discovered incidentally, and they are considered benign. Very exceptionally, however, they can cause neurological symptoms. In this article, we present three cases of patients with developmental venous anomalies that presented with different symptoms owing to complications derived from altered venous drainage. These anomalies were located in the left insula, right temporal lobe, and cerebellum...
March 16, 2018: Radiología
Suresh Giragani, Santhosh Kumar Pavunesan, Anandh Balasubramaniam
Cerebral proliferative angiopathy (CPA) is a rare vascular abnormality and separate from "classical" brain arteriovenous malformations. Haemorrhage due to proliferative angiopathy is rarely reported. We describe the clinical features, imaging findings and targeted endovascular management for a 12-year-old boy having proliferative angiopathy of the posterior fossa presenting with haemorrhage. Targeted endovascular embolisation in CPA is not previously described in the literature. The optimal treatment options for haemorrhagic CPA are debatable, and we wish to highlight the role of targeted treatment for culprit focal lesion demonstrable on imaging...
January 1, 2018: Interventional Neuroradiology
Antonio Borzelli, Andrea Paladini, Francesco Giurazza, Salvatore Tecame, Flavio Giordano, Enrico Cavaglià, Francesco Amodio, Fabio Corvino, Daniela Beomonte Zobel, Giulia Frauenfelder, Anna Giacoma Tucci, Raffaella Niola
Pulmonary sequestration is a congenital malformation characterized by dysplastic pulmonary tissue which receives blood supply by arterial systemic system, not in communication with tracheobronchial tree. Although it could be asymptomatic, it can also cause recurrent infections and hemoptysis, rarely massive and fatal. The conventional treatment consists in surgical resection of the pulmonary sequestration, but in the last few years endovascular embolization has been proposed as a valid therapeutic alternative...
February 2018: Radiology Case Reports
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
Sanne D'hondt, Brecht Guillemyn, Delfien Syx, Sofie Symoens, Riet De Rycke, Leen Vanhoutte, Wendy Toussaint, Bart N Lambrecht, Anne De Paepe, Douglas R Keene, Yoshihiro Ishikawa, Hans Peter Bächinger, Sophie Janssens, Mathieu J M Bertrand, Fransiska Malfait
Type III collagen is a major fibrillar collagen consisting of three identical α1 (III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α1 (III)-chains...
March 15, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
Hu-Lin Christina Wang, Jia-Hao Zhang, Cheng-Hung How
BACKGROUND: Pulmonary arteriovenous malformations are rare vascular abnormalities that permit direct communication between the pulmonary artery and vein. During pregnancy, pulmonary arteriovenous malformation carries an increased risk of enlargement and rupture, which could lead to life-threatening hemothorax. This is the first case reporting successful thoracoscopic surgery for a pregnant woman with pulmonary arteriovenous malformation rupture-related hemothorax. CASE PRESENTATION: We present a case of a 32-year-old pregnant Asian woman (31 weeks' gestation) whose pulmonary arteriovenous malformation ruptured, leading to right-sided spontaneous tension hemothorax...
March 19, 2018: Journal of Medical Case Reports
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...
March 16, 2018: Neurogenetics
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
Jun Ma, Bin Chen, Dong Li, Yue Zhang, Zhaoxia Ying
Port-wine stain (PWS) birthmark is a congenital microvascular malformation of the skin. A 1064-nm Nd:YAG laser can achieve a deeper treatment, but the weak absorption by blood limits its clinical application. Multiple laser pulses (MLPs) are a potential solution to enhance the curative effect of a Nd:YAG laser. To reduce the pulse number (pn ) required for the thermal destruction of the blood vessel, the effect of glucose in conjunction with MLP was investigated. In vivo experiments were performed on a dorsal skin chamber model...
March 14, 2018: Lasers in Medical Science
Furkan Diren, Serra Sencer, Tayfun Hakan
Objective: Arteriovenous malformation (AVM) is the most common form of intracranial vascular malformations in adults. Intracranial pediatric AVMs are rare. AVM located in the vicinity of the brain stem in children are even more rare. Case report: This study reports a rare case of acute obstructive hydrocephalus following aqueductal stenosis caused by an unruptured grade IV perimesencephalic arteriovenous malformation. An 11-year-old boy admitted to the hospital with progressive headache, nausea and vomiting throughout a month...
2018: Open Neuroimaging Journal
Vicente Perez-Garcia, Elena Fineberg, Robert Wilson, Alexander Murray, Cecilia Icoresi Mazzeo, Catherine Tudor, Arnold Sienerth, Jacqueline K White, Elizabeth Tuck, Edward J Ryder, Diane Gleeson, Emma Siragher, Hannah Wardle-Jones, Nicole Staudt, Neha Wali, John Collins, Stefan Geyer, Elisabeth M Busch-Nentwich, Antonella Galli, James C Smith, Elizabeth Robertson, David J Adams, Wolfgang J Weninger, Timothy Mohun, Myriam Hemberger
Large-scale phenotyping efforts have demonstrated that approximately 25-30% of mouse gene knockouts cause intrauterine lethality. Analysis of these mutants has largely focused on the embryo and not the placenta, despite the crucial role of this extraembryonic organ for developmental progression. Here we screened 103 embryonic lethal and sub-viable mouse knockout lines from the Deciphering the Mechanisms of Developmental Disorders program for placental phenotypes. We found that 68% of knockout lines that are lethal at or after mid-gestation exhibited placental dysmorphologies...
March 14, 2018: Nature
Misun Hwang, Matthew A Thimm, Anthony L Guerrerio
PURPOSE: Cavernous transformation of the portal vein can be missed on color Doppler exam or arterial phase cross-sectional imaging due to their slow flow and delayed enhancement. Contrast-enhanced ultrasound (CEUS) offers many advantages over other imaging techniques and can be used to successfully detect cavernous transformations of the portal vein. METHODS: A 10-month-old female was followed for repeat episodes of hematemesis. Computed tomography angiography (CTA) and magnetic resonance arteriogram (MRA) and portal venography were performed...
March 13, 2018: Journal of Ultrasound
Alexandra Yannoutsos, Julie Malloizel-Delaunay, Emilie Tournier, Abdelaziz Abid, Alessandra Bura-Rivière
In this observation, we report an unusual presentation of a pilomatricoma in an 8-year-old girl who was initially referred to the department of vascular medicine for diagnosis and care of a suspected mixed lymphatic venous malformation. The lesion on her left shoulder presented as a giant bluish-purple red solitary mass, painful and rapidly growing, measuring 7 cm in anteroposterior diameter. This mass did not present the typical characteristics of a lymphatic venous malformation but exhibited warning signs of malignancy on clinical examination and imaging...
February 27, 2018: American Journal of Dermatopathology
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