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https://www.readbyqxmd.com/read/28545938/an-update-of-77-cases-diagnosed-as-oral-hemangiomas-based-on-glut-1-positivity
#1
Tiago João da Silva Filho, Denise Hélen Imaculada Pereira de Oliveira, Veruska Lima Moura Brasil, Cassiano Francisco Weege Nonaka, Éricka Janine Dantas da Silveira, Lélia Maria Guedes Queiroz
OBJECTIVES: To evaluate cases diagnosed as "oral hemangiomas" based on the immunohistochemical expression of human glucose transporter protein (GLUT-1) and on histopathological features, and to investigate whether the classification proposed by the ISSVA was used correctly to classify these lesions. MATERIAL AND METHODS: All cases stored in the archives of an Oral Pathology Service and diagnosed as "oral hemangiomas" were reviewed. Seventy-seven cases were analyzed regarding the expression of GLUT-1...
May 22, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28540347/interdisciplinary-management-of-head-and-neck-vascular-anomalies-clinical-presentation-diagnostic-findings-and-minimalinvasive-therapies
#2
REVIEW
Maliha Sadick, Walter A Wohlgemuth, Roland Huelse, Bettina Lange, Thomas Henzler, Stefan O Schoenberg, Haneen Sadick
OBJECTIVES: Vascular anomalies are included in the 30 000 rare diseases worldwide affecting less than 5/10 000 people. Depending on their morphology and biological properties, they can cause varied disorders with organ involvement. Almost 60% of vascular anomalies have a predilection for the head and neck region in children. Clinical and scientific effort to establish interdisciplinary management concepts for vascular anomalies is increasing worldwide. METHODS: Especially in the head and neck region, clinical impairment and organ dysfunction is associated with cosmetic issues that may represent a physical and psychological issue for the patient...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#3
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
May 22, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28526601/model-based-precision-dosing-of-sirolimus-in-pediatric-patients-with-vascular-anomalies
#4
Tomoyuki Mizuno, Chie Emoto, Tsuyoshi Fukuda, Adrienne M Hammill, Denise M Adams, Alexander A Vinks
Sirolimus is the first drug to show efficacy in the treatment of patients with complicated vascular anomalies. The current study expands on the evolution of a PK model-based strategy for the precision dosing of sirolimus as part of prospective concentration controlled clinical trials in pediatric patients with vascular anomalies. Twelve month follow up data collected from 52 pediatric patients participating in the Phase 2 clinical trial were analyzed. Target attainment across the age range of 3weeks to 18years after 2-3months of therapy was 94% (49 out of 52 patients)...
May 16, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28525681/unveiling-idiopathic-macular-telangiectasia-clinical-applications-of-optical-coherence-tomography-angiography
#5
Marco A Gonzalez, Diana Shechtman, Jay M Haynie, Leo Semes
PURPOSE: Idiopathic macular telangiectasia type 2 (IMT2) is a bilateral acquired maculopathy, with a spectrum of clinical presentations associated with inner retinal telangiectatic vascular anomalies. Cases often are underdiagnosed or misdiagnosed. Current diagnostic modalities such as spectral-domain optical coherence tomography (SD-OCT) and fluorescein angiography (FA) are valuable to the understanding of the clinicopathology. More recently, optical coherence tomography angiography (OCTA), as an emerging noninvasive technology, has been shown to be particularly useful in the assessment and management of IMT2...
May 19, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28525479/outcome-of-bilateral-c1-laminar-hooks-combined-with-c2-pedicle-screw-fixation-for-the-treatment-of-c1-c2-instability-a-report-of-18-cases-from-a-single-chinese-center
#6
Lifeng Lao, Guibin Zhong, Qianyi Li, Xinfeng Li, Bin Chen, Lie Qian, Zude Liu
STUDY DESIGN: A retrospective technical report. OBJECTIVE: To assess the effect of bilateral C1 laminar hooks combined with C2 pedicle screw fixation for the treatment of C1-C2 instability. SUMMARY OF BACKGROUND DATA: Various posterior atlantoaxial fixations for C1-C2 instability have been developed. However, due to anatomic anomalies of the vertebral artery, the smallness of the pedicle, trajectories of broken screws, or a lack of surgical experience, a simple atlantoaxial fixation technique with good safety and effectiveness is urgently needed...
June 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28520518/arrested-development-infantile-hemangioma-and-the-stem-cell-teratogenic-hypothesis
#7
Shaghayegh Harbi, Hannah Park, Michael Gregory, Peter Lopez, Luis Chiriboga, Paolo Mignatti
BACKGROUND: Early-life programming is defined by the adaptive changes made by the fetus in response to an adverse in utero environment. Infantile hemangioma (IH), a vascular anomaly, is the most common tumor of infancy. Here we take IH as the tumor model to propose the stem cell teratogenic hypothesis of tumorigenesis and the potential involvement of the immune system. OBJECTIVES: Teratogenic agents include chemicals, heavy metals, pathogens, and ionizing radiation...
May 18, 2017: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/28515822/primary-percutaneous-coronary-intervention-angioplasty-of-occluded-twin-circumflex-coronary-artery-in-a-patient-of-acute-inferior-wall-myocardial-infarction-a-rare-anomaly
#8
Santosh Kumar Sinha, Vikas Mishra, Nasar Abdali, Mukesh Jitendra Jha, Mahmadula Razi, Shravan Singh, Lokendra Rekwal, Vikas Chaturvedi, Chandra Mohan Varma, Ramesh Thakur
Anomalies of the coronary arteries are reported in 1-2% of patients among diagnostic angiogram. Dual origin of a circumflex from both sinuses is extremely rare among them. We report a case of a patient who underwent primary percutaneous coronary intervention for acute inferior wall myocardial infarction where left coronary injection demonstrated normal obtuse marginal and right coronary injection demonstrated normal right coronary artery (RCA). On further probing, an anomalous left circumflex (LCx) artery was seen arising from RCA ostium which was subsequently cannulated and revascularized by deployment of 2...
April 2017: Cardiology Research
https://www.readbyqxmd.com/read/28515588/placental-mesenchymal-dysplasia-what-every-radiologist-needs-to-know
#9
Disha Mittal, Rama Anand, Neha Sisodia, Smita Singh, Ratna Biswas
Placental mesenchymal dysplasia (PMD) is an uncommon vascular anomaly of the placenta characterized by placentomegaly with multicystic placental lesion on ultrasonography and mesenchymal stem villous hyperplasia on histopathology. Placental mesenchymal dysplasia should be considered in the differential diagnosis of cases of multicystic placental lesion such as molar pregnancy, chorioangioma, subchorionic hematoma, and spontaneous abortion with hydropic placental changes. However, lack of high-velocity signals inside the lesion and a normal karyotype favor a diagnosis of PMD...
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#10
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28506323/transcatheter-correction-of-scimitar-syndrome-occlusion-of-abnormal-pulmonary-venous-drainage-and-vascular-supply-in-an-infant
#11
Levent Saltik, Sezen Ugan Atik, Helen Bornaun
Treatment of Scimitar syndrome is usually surgical; however, if there is "dual drainage" - that is, one to the inferior caval vein and the other to the left atrium - it is possible to successfully treat this anomaly via a less-invasive transcatheter approach. We report a case of Scimitar syndrome in a 21-month-old, male infant successfully treated with transcatheter embolisation.
May 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28503501/acute-subdural-hematoma-and-subarachnoid-hemorrhage-caused-by-ruptured-cortical-artery-aneurysm-case-report-and-review-of-literature
#12
REVIEW
Ahmad Shekarchizadeh, Saburi Masih, Pourkhalili Reza, Bahram Seif
The present report describes an acute subdural hematoma (ASDH) associated with subarachnoid hemorrhage (SAH), due to ruptured cortical aneurysm. To our knowledge, extremely rare cases of this sort have been reported so far. A 23-year-old male patient without previous trauma presented with severe headache and rapidly decreasing level of consciousness to decerebrate status. Computed tomography (CT) scan has demonstrated an ASDH together with SAH. Hematoma has immediately been evacuated without any evaluation by angiography...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28503443/vascular-anomaly-in-the-levator-aponeurosis-of-neurofibromatosis-type-1
#13
Satoru Kase, Toshiya Shinohara, Mika Noda, Susumu Ishida, Manabu Kase
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#14
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#15
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28500274/combined-hmg-coa-reductase-and-prenylation-inhibition-in-treatment-of-ccm
#16
Sayoko Nishimura, Ketu Mishra-Gorur, JinSeok Park, Yulia V Surovtseva, Said M Sebti, Andre Levchenko, Angeliki Louvi, Murat Gunel
Cerebral cavernous malformations (CCMs) are common vascular anomalies that develop in the central nervous system and, more rarely, the retina. The lesions can cause headache, seizures, focal neurological deficits, and hemorrhagic stroke. Symptomatic lesions are treated according to their presentation; however, targeted pharmacological therapies that improve the outcome of CCM disease are currently lacking. We performed a high-throughput screen to identify Food and Drug Administration-approved drugs or other bioactive compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28491050/a-persistent-primitive-hypoglossal-artery-as-the-sole-supply-to-the-brain-associated-with-a-basilar-bifurcation-aneurysm
#17
Ming Wang, Jun Gu, Ping Lan, Shu Wan, Yongqing Zhou, Xiujue Zheng, Renya Zhan
The persistent primitive hypoglossal artery (PPHA) is the second most common persistent carotid-vertebrobasilar anastomosis, with an incidence of 0.027-0.26%. PPHAs change the hemodynamics of the carotid and vertebrobasilar system and may be associated with intracranial vascular anomalies, but basilar bifurcation aneurysms were rarely reported. We describe the first case of a PPHA as the sole supply to the brain associated with a basilar bifurcation aneurysm and review the literature. We reported a 34-year-old woman who presented with subarachnoid hemorrhage due to a ruptured basilar bifurcation aneurysm...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28475712/surgical-management-of-aortopulmonary-window-24-years-of-experience-and-lessons-learned
#18
Deepak Gowda, Trushar Gajjar, Jinaga Nageswar Rao, Praveen Chavali, Aaditya Sirohi, Naveen Pandarinathan, Neelam Desai
OBJECTIVES: Aortopulmonary window represents 0.2-0.3% of all congenital heart lesions. Progressive pulmonary arterial hypertension and its consequences are more common with this anomaly. The purpose of this study was to share 24 years of surgical experience in managing a spectrum of 55 cases of aortopulmonary window, followed up to 17 years in a single institution. METHODS: : This retrospective study was done from November 1991 to November 2015 of 55 patients with aortopulmonary window who underwent successful surgical repair...
May 5, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28471482/vascular-endothelial-growth-factor-a-gene-polymorphism-is-associated-with-congenital-renal-lesions-in-children-with-urinary-tract-infections
#19
Eirini Bimpaki, Maria Bitsori, Christiana Choulaki, Emmanouil Galanakis
AIM: This study investigated the relationship between vascular endothelial growth factor-A (VEGF-A)-460C/T functional gene polymorphism and renal parenchymal lesions, vesicoureteral reflux and other urinary tract abnormalities in children with a urinary tract infection (UTI). METHODS: VEGF-A-460C/T gene polymorphism was investigated with restriction length polymorphism analysis in 76 children with their first UTI and in 63 controls without infections. Genotype and allele frequencies were compared between children with UTIs and controls and between different groups with UTIs...
May 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28468226/characteristics-of-pediatric-cheek-mass
#20
Ye Seul Eom, So Young Lim
PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details...
May 2017: Journal of Craniofacial Surgery
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