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Vascular anomalies

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
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
Anthony H Chau, Haidar Abdul-Muhsin, Xin Peng, Victor J Davila, Erik P Castle, Samuel R Money
Renal nutcracker syndrome is an anatomic anomaly characterized by the compression of the left renal vein between the superior mesenteric artery and the aorta or between the aorta and the vertebral body. Diagnosis is often challenging. Common presenting symptoms include hematuria, abdominal pain, and pelvic congestion. Several open and endovascular techniques have been described to treat this syndrome. We report a novel surgical technique with robotic-assisted left renal vein transposition to treat a 19-year-old woman with renal nutcracker syndrome...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
Xiang-Yang Li, Hai-Yan He, Pearl Pai
Central venous catheterization can be challenging in patients that had undergone repeated catheter placements. Ultrasound scan may overlook venous stenosis which is better visualized using venography. The use of venography should be considered to assess for venous stenosis or vascular anomalies in individuals with multiple catheterizations or in close proximity to cancer.
March 2018: Clinical Case Reports
Chun-Ting Chen, Hung-Yi Lai, Ting-Wei Chang, Ching-Yi Lee
BACKGROUND: Spontaneous epidural hemorrhage (EDH) is a rare occurrence that may be caused by vascular anomalies, infections, coagulopathies, or tumors. Spontaneous EDH occurring in patients without specific underlying disease has been reported only as intraspinal lesion but has never been demonstrated in the intracranial area. This study presents a 19-year-old patient with repeated spontaneous intracranial EDH caused twice by hysterical crying. CASE DESCRIPTION: The patient had spontaneous left frontal EDH after hysterical crying...
March 9, 2018: World Neurosurgery
Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese
BACKGROUND: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and messenger RNAs (mRNA) in monogenic constitutional anomalies affecting several organ systems, like Marfan syndrome (MFS). We performed integrated miRNA and mRNA expression profiling in blood samples of Marfan patients in order to investigate deregulated miRNA and mRNA networks in these patients which could serve as potential diagnostic and prognostic tools for MFS therapy...
March 12, 2018: Journal of Translational Medicine
Atsushi Aikawa, Masaki Muramatsu, Yusuke Takahashi, Yuko Hamasaki, Junya Hashimoto, Mai Kubota, Takeshi Kawamura, Yoshihiro Itabashi, Yoiji Hyodou, Seiichiro Shishido
During pediatric kidney transplant, surgical challenges occasionally occur. In particular, vascular anastomosis should be considered for children with small body weight < 12 kg, multiple renal arteries, vascular anomaly, and inferior vena cava occlusion. In pediatric patients, a living-donor renal graft is usually donated from a parent. Therefore, the renal artery and vein are too large to be anastomosed with the recipient's internal iliac artery and external iliac vein. In children who are > 12 kg, the renal artery and vein could be anastomosed with the external iliac artery and the external iliac vein...
March 2018: Experimental and Clinical Transplantation
Jennifer C Hocking, Jakub K Famulski, Kevin H Yoon, Sonya A Widen, Cassidy S Bernstein, Sophie Koch, Omri Weiss, Seema Agarwala, Adi Inbal, Ordan J Lehmann, Andrew J Waskiewicz
The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight patients with defects in tissues of the superior eye, a congenital disorder that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morphogenesis of the dorsal eye...
March 9, 2018: PLoS Genetics
Mesut Özgökçe, Veysel Atilla Ayyıldız, Hayri Oğul, Harun Arslan, Abdussamet Batur, Alpaslan Yavuz, Suat İnce, Deniz Yüce
BACKGROUND: There is an increasing trend for administration of invasive radiological interventions, laparoscopic surgery, and transplantation procedures in recent years, and determining the vascular variations prior to these procedures is crucially important. Celiacomesenteric trunk (CMT) is among these variations. This study aimed to retrospectively evaluate this rare anomaly by computed tomography (CT). MATERIALS AND METHODS: A total of 1000 CT angiography images were analyzed retrospectively, and the patients with mesenteric and celiac arteries arising from the abdominal aorta with a single root were identified...
March 3, 2018: Folia Morphologica (Warsz)
Amgad Hanna, Larry O'Neil Bodden, Gabriel R L Siebiger
Thoracic outlet syndrome (TOS) is caused by compression of the brachial plexus and/or subclavian vessels as they pass through the cervicothoracobrachial region, exiting the chest. There are three main types of TOS: neurogenic TOS, arterial TOS, and venous TOS. Neurogenic TOS accounts for approximately 95% of all cases, and it is usually caused by physical trauma (posttraumatic etiology), chronic repetitive motion (functional etiology), or bone or muscle anomalies (congenital etiology). We present two cases in which neurogenic TOS was elicited by vascular compression of the inferior portion of the brachial plexus...
January 2018: Journal of Brachial Plexus and Peripheral Nerve Injury
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)...
March 1, 2018: JAMA Ophthalmology
Ziyad M Binsalamah, Charles D Fraser, Carlos M Mery
Pulmonary artery slings and vascular rings are very rare congenital anomalies. It is even rarer to have both anomalies in the same setting. We present a case of a toddler who was diagnosed with a left pulmonary artery sling and a vascular ring as part of the screening process for the VACTERL association - co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb malformations. He underwent a successful surgical repair via median sternotomy and on cardiopulmonary bypass with an uneventful postoperative course...
March 1, 2018: Cardiology in the Young
Zeynep Dadaci, Cengiz Kadiyoran, Mustafa Golen, Hilal Akay Cizmecioglu
The authors report a 35-year-old woman who presented 1 month after delivery with the complaint of pain behind her left eye which started during her pregnancy. The patient described increased fullness with dependent head position and pain on left gaze but she had no proptosis and her ocular examination was normal. Magnetic resonance imaging (MRI) revealed an intraconal mass with inhomogeneous contrast enhancement. As the authors did not suspect malignity and her ocular examination was normal without any signs of inflammation, the authors followed the patient closely...
February 26, 2018: Journal of Craniofacial Surgery
Souheil Saddekni, Amr Ahmed Abouateya, Rafik Mohamed Ibrahim, Maysoon Farouk Hamed, Sherif Magdy Moawad, Ahmed Anwar Abouarab, Ahmed Kamel Abdel Aal
We present the case of a 54-year-old male patient diagnosed with a right upper lobe lung cancer and was referred for resection. Positron emission tomography-computed tomography scan showed a prominent vascular structure in the right lung, suspicious for vascular malformation. A computed tomography angiography was done, demonstrating an intercostobronchial trunk-pulmonary artery fistula. There was also non-tapering dilated wandering pulmonary artery coursing through the right lower lung without any abnormal connection with pulmonary veins and were supplying normal lung parenchyma...
December 2017: Radiology Case Reports
Guglielmo Manenti, Alessio Bozzi, Valentina Ferrazzoli, Salvatore Marsico, Erald Vasili, Roberto Floris
Bifid sternum is a rare fusion anomaly of the chest wall that accounts for 0.15% of all chest deformities and may be associated with cardiac or vascular anomalies. It is usually diagnosed and surgically corrected at birth or within the first month of life. Being a diagnosis made during the neonatal period, computed tomography scan and magnetic resonance imaging are not often performed; not so many cases in literature have been studied with II level diagnostic imaging, such as computed tomography or magnetic resonance...
December 2017: Radiology Case Reports
Victor L Fox
Vascular anomalies are a morphologically and biologically diverse group of vascular channel abnormalities that are often congenital but may evolve or change over time in the developing child. Classification is based on a combination of physical and biological properties and clinical behavior that differentiate primarily between tumors and malformations and includes a few provisionally unclassified lesions. Anomalies of the GI tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption...
February 23, 2018: Minerva Pediatrica
Archana Singal, Hema Mittal, Anju Aggarwal, Saurabhi Das, Smita Manchanda
Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2-month-old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associations in the form of extensive venous anomalies presenting as striking abdominal wall varicosities and persistent left superior vena cava and natal tooth.
February 26, 2018: Pediatric Dermatology
Jessie M Wu, Abed M Zaitoun
INTRODUCTION: Dieulafoy's lesion is a rare vascular anomaly characterized by an abnormally large and tortuous submucosal arteriole leading to an area of mucosal defect with minimal inflammation. It is most often seen in the stomach but could occur anywhere along the gastrointestinal tract. Only five cases of gallbladder Dieulafoy's lesion have been published so far. PRESENTATION OF CASE: We report a case of Dieulafoy's lesion in the gallbladder in a 44 year-old patient who presented with calculous cholecystitis...
February 10, 2018: International Journal of Surgery Case Reports
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