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Vascular anomalies

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https://www.readbyqxmd.com/read/28328125/two-patients-with-the-heterozygous-r189h-mutation-in-acta2-and-complex-congenital-heart-defects-expands-the-cardiac-phenotype-of-multisystemic-smooth-muscle-dysfunction-syndrome
#1
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. We describe two patients, a 3-day-old newborn and a 26-year-old woman, with this unique mutation in association with a huge PDA and an aorto-pulmonary window...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28324193/hemodynamic-characterization-of-peripheral-arterio-venous-malformations
#2
Sabrina Frey, A Haine, R Kammer, H von Tengg-Kobligk, D Obrist, I Baumgartner
Peripheral arterio-venous malformations (pAVMs) are congenital vascular anomalies that require treatment, due to their severe clinical consequences. The complexity of lesions often leads to misdiagnosis and ill-planned treatments. To improve disease management, we developed a computational model to quantify the hemodynamic effects of key angioarchitectural features of pAVMs. Hemodynamic results were used to predict the transport of contrast agent (CA), which allowed us to compare our findings to digital subtraction angiography (DSA) recordings of patients...
March 21, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28321382/understanding-the-course-of-vertebral-artery-at-craniovertebral-junction-in-occipital-assimilation-of-atlas-made-simplified-using-conventional-angiography
#3
Anita Jagetia, Tushit Mewda, Ishu Bishnoi, Manoj Bhutte, Hukum Singh, A K Srivastava, Daljit Singh
Introduction Preoperative assessment of vertebral artery (VA) is important to avoid its injury during surgery at craniovertebral junction (CVJ). The main concern is the course of third segment of VA (V3) while performing instrumentation at CVJ, that is, segment of VA from its course through transverse foramen of C2 to its course along the posterior arch of C1. This segment of VA includes its passage through C1 transverse foramen as well. This observational study was done to analyze the course, curvature, and termination of VA in patients with occipital assimilation of atlas at CVJ, a complex congenital anomaly, and compared with the normal course for better understanding especially by young neurosurgeons and spine surgeons...
April 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/28316309/high-resolution-ct-angiogram-for-lower-extremity-vein-mapping
#4
Mark P Wright, Matthew R Smeds, Lonnie Wright, Ahsan T Ali
High-resolution CT angiogram (CTA) has replaced traditional diagnostic angiography as the main preoperative imaging modality for vascular surgery patients. Although the use of CTA is increasing for arterial imaging, it has not been used routinely for vein mapping. The goal of this study was to evaluate the accuracy of CTA for venous anatomy and compare it to a standard venous duplex ultrasound (DUS). When the vein was used for bypass, the quality and size of the vein were evaluated in the operating room. As part of a preoperative workup before lower extremity revascularization, 16 patients underwent a CTA followed by a DUS...
March 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28306539/three-dimensional-power-doppler-of-the-placenta-and-its-clinical-applications
#5
Kelly Yamasato, Ivica Zalud
The aim of this review is to discuss three dimensional (3D) power Doppler of the placenta and its clinical applications. There is a strong clinical need to develop noninvasive, simple and widely available methods of evaluating in vivo placental function to assess fetal wellbeing. While conventional ultrasound is a proven tool in the evaluation of fetal structural anomalies and health, its ability to assess placental function, especially prior to the onset of fetal compromise, is the subject of ongoing investigation...
March 17, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28303205/aneurysm-of-azygos-anterior-cerebral-artery-associated-with-falcine-meningioma-case-report-and-review-of-the-literature
#6
Lucas C Meguins, Raquel C T Hidalgo, Antônio R Spotti, Dionei F de Morais
BACKGROUND: The azygos anterior cerebral artery (ACA) is an uncommon intracranial vascular anomaly of the circle of Willis. Identification of aneurysm from azygos ACA with anterior falcine meningioma is an extremely rare association. The aim of the present study is to report the case of an adult female with a ruptured aneurysm from azygos ACA in association with an anterior falcine meningioma. CASE DESCRIPTION: A 65-year-old female was admitted in the Emergency Department reporting sudden onset of severe headache...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#7
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/28289672/en-bloc-transplantation-of-horseshoe-kidney-in-korea
#8
Jun Bae Bang, Jae Myeong Lee, Chang-Kwon Oh, Kyo Won Lee, Jae Berm Park, Sung Joo Kim, Su Hyung Lee
Transplantation of the horseshoe kidney can be performed en bloc or split into 2 grafts according to the vascular anomaly and the existence of the urinary collecting system in isthmus. From 2011 to 2014, there were 3 horseshoe kidney transplantations in Korea and transplantations were performed at 2 different centers. The transplantations were carried out successfully for all recipients without complications. All recipients have shown good graft kidney function after transplantation. No severe complication was revealed during follow-up period...
March 2017: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/28289534/dysphagia-after-arteria-lusoria-dextra-surgery-anatomical-considerations-before-redo-surgery
#9
Judith Mayer, Natascha van der Werf-Grohmann, Johannes Kroll, Ute Spiekerkoetter, Brigitte Stiller, Jochen Grohmann
Aberrant right subclavian artery (arteria lusoria) is the most common congenital root anomaly, remaining asymptomatic in most cases. Nevertheless, some of the 20%-40% of those affected present tracheo-esophageal symptoms. We report on a 6-year-old previously healthy girl presenting with progressive dysphagia over 4 wk. Diagnostics including barium swallow, echocardiography and magnetic resonance angiography (MRA) revealed a retro-esophageal compression by an aberrant right subclavian artery. Despite the successful, uneventful transposition of this arteria lusoria to the right common carotid via right-sided thoracotomy, the girl was suffering from persisting dysphagia...
February 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28283001/cranial-subarachnoid-and-subdural-haemorrhage-caused-by-spinal-melanoma-metastasis
#10
Farouk Olubajo, Stavros Stavropoulos, M Masood Hussain, Chris Rowland-Hill, Shailendra Achawal
A 73-year-old female with a history of metastatic melanoma presented with extensive intracranial subarachnoid haemorrhage. Cranial imaging failed to reveal any vascular anomaly or tumour. MRI of the neuroaxis revealed a melanoma metastasis at T10 with associated subarachnoid haemorrhage. We review the literature on this rare presentation of subarachnoid haemorrhage.
March 10, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28271154/renal-artery-and-parenchymal-changes-after-renal-denervation-assessment-by-magnetic-resonance-angiography
#11
Margreet F Sanders, Pieter Jan van Doormaal, Martine M A Beeftink, Michiel L Bots, Fadl Elmula M Fadl Elmula, Jesse Habets, Frank Hammer, Pavel Hoffmann, Lotte Jacobs, Patrick B Mark, Alexandre Persu, Jean Renkin, Giles Roditi, Wilko Spiering, Jan A Staessen, Alison H Taylor, Willemien L Verloop, Eva E Vink, Evert-Jan Vonken, Michiel Voskuil, Tim Leiner, Peter J Blankestijn
OBJECTIVES: Relatively little is known about the incidence of long-term renal damage after renal denervation (RDN), a potential new treatment for hypertension. In this study the incidence of renal artery and parenchymal changes, assessed with contrast-enhanced magnetic resonance angiography (MRA) after RDN, is investigated. METHODS: This study is an initiative of ENCOReD, a collaboration of hypertension expert centres. Patients in whom an MRA was performed before and after RDN were included...
March 7, 2017: European Radiology
https://www.readbyqxmd.com/read/28269776/amyloid-related-imaging-abnormalities-in%C3%A2-an-aged-squirrel-monkey-with-cerebral-amyloid-angiopathy
#12
Eric Heuer, Jessica Jacobs, Rebecca Du, Silun Wang, Orion P Keifer, Amarallys F Cintron, Jeromy Dooyema, Yuguang Meng, Xiaodong Zhang, Lary C Walker
Amyloid-related imaging abnormalities (ARIA) in magnetic resonance imaging scans have emerged as indicators of potentially serious side effects in clinical trials of therapeutics for Alzheimer's disease. These anomalies include an edematous type (ARIA-E) that appears as hyperintense (bright) regions by T2-weighted MRI, and a type characterized by the deposition of hemosiderin (ARIA-H) that elicits a hypointense signal, especially in T2* and susceptibility-weighted imaging. ARIA in general has been linked to the presence of amyloid-β (Aβ)-type cerebral amyloid angiopathy, an accumulation of misfolded Aβ protein in the vascular wall that impairs the integrity of brain blood vessels...
March 2, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28258976/congenital-pulmonary-lymphangiectasia
#13
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways...
March 4, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28251611/consensus-statement-for-the-treatment-of-infantile-haemangiomas-with-propranolol
#14
Sarah L Smithson, Marius Rademaker, Susan Adams, Stuart Bade, Philip Bekhor, Samantha Davidson, Amanda Dore, Catherine Drummond, Gayle Fischer, Alexander Gin, Claire Grills, Anne Halbert, Zerina Lokmic, Emma McCahon, Vanessa A Morgan, Dedee F Murrell, David Orchard, Anthony Penington, Diana Purvis, John Relic, Susan Robertson, Aaron J Robinson, Laura Scardamaglia, John Su, Swee Tan, Orli Wargon, Lachlan Warren, Li-Chuen Wong, Tania Zappala, Roderic Phillips
Although most infantile haemangiomas do not require treatment due to a natural history of spontaneous involution, some require early intervention. The Australasian Vascular Anomalies Network and the Australasian Paediatric Dermatology Network have developed a consensus statement for the treatment of infantile haemangiomas with oral propranolol. Infants with haemangiomas that are life threatening, at risk of ulceration, or at risk of causing a significant functional impairment, psychological impact or physical deformity should be treated early with oral propranolol...
March 1, 2017: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/28251330/oculo-auriculo-vertebral-spectrum-going-beyond-the-first-and-second-pharyngeal-arch-involvement
#15
Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome)...
March 1, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28249814/micrornas-impaired-vasculogenesis-in-metal-induced-teratogenicity
#16
Selvaraj Vimalraj, Venil N Sumantran, Suvro Chatterjee
Certain metals have been known for their toxic effects on embryos and fetal development. The vasculature in early pregnancy is extremely dynamic and plays an important role in organogenesis. Nascent blood vessels in early embryonic life are considered to be a primary and delicate target for many teratogens since the nascent blood islands follow a tightly controlled programme to form vascular plexus around and inside the embryo for resourcing optimal ingredients for its development. The state of the distribution of toxic metals, their transport mechanisms and the molecular events by which they notch extra-embryonic and embryonic vasculatures are illustrated...
February 26, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28247771/poems-syndrome-and-idiopathic-portal-hypertension-a-possible-association
#17
Sara Campos, Cláudia Agostinho, Maria Augusta Cipriano
A 48-year old female patient was admitted to the emergency department with upper gastrointestinal bleeding. Endoscopy showed large esophageal varices that were treated with band ligation. She had been treated with cyclophosphamide, melphalan, lenalidomide and corticosteroids for POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy or edema, M protein, skin changes). She had no other risk factors for chronic liver disease. Laboratory and radiological examinations could not confirm the etiology of portal hypertension...
March 1, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28242014/external-stenting-a-reliable-technique-to-relieve-airway-obstruction-in-small-children
#18
Makoto Ando, Yuzo Nagase, Hisaya Hasegawa, Yukihiro Takahashi
OBJECTIVE: Airway obstruction in children may be caused by conditions such as vascular compression and congenital tracheobronchomalacia. Obstructive pulmonary vascular disease may be a detrimental sequel for patients with congenital heart disease. We evaluate our own original external stenting technique as a treatment option for these patients. METHODS: Ninety-eight patients underwent external stenting (1997-2015). Cardiovascular anomalies were noted in 82 (83.7%)...
February 3, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28238417/enhanced-expression-of-programmed-cell-death-1-pd-1-protein-in-benign-vascular-anomalies
#19
Clarissa N Amaya, Frank H Wians, Brad A Bryan, Alireza Torabi
Programmed cell death 1 (PD-1) and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the United States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently has approved anti-PD-L1 blocker for treatment of metastatic urothelial cell carcinoma. However, the role that the immune system might have on benign tumours including vascular anomalies has received less attention...
February 23, 2017: Pathology
https://www.readbyqxmd.com/read/28237965/genetic-dissection-of-anterior-segment-dysgenesis-caused-by-a-col4a1-mutation
#20
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B Gould
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, between 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes...
February 24, 2017: Disease Models & Mechanisms
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