keyword
MENU ▼
Read by QxMD icon Read
search

Malformation vascular

keyword
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#1
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#2
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29329829/effectiveness-and-safety-of-foam-sclerotherapy-with-5-ethanolamine-oleate-in-the-treatment-of-low-flow-venous-malformations-in-the-head-and-neck-region-a-case-series
#3
M C Ribeiro, S de Mattos Camargo Grossmann, M B F do Amaral, W H de Castro, T P Navarro, R J Procopio, T A da Silva, C de Nazaré Alves de Oliveira Kato, R A Mesquita
The aim of this study was to evaluate the effectiveness and safety of 5% ethanolamine oleate (EO) foam in the treatment of low-flow venous malformations in the head and neck region. Seventeen consecutive patients (six male, 11 female) and 34 low-flow venous malformations were enrolled. The vascular anomalies ranged between 20mm and 80mm in size. The typical clinical indication was a swelling (88.2%) with a purple colour (85.3%); the most frequent location was the tongue (23.5%). Ethanolamine oleate foam was produced via the Tessari method and applied at 10mg per 1cm to the vascular anomalies...
January 9, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29328001/gamma-knife-radiosurgery-of-saccular-aneurysms-in-a-rabbit-model
#4
Mark D Meadowcroft, Timothy K Cooper, Sebastian Rupprecht, Thaddeus C Wright, Elizabeth E Neely, Michele Ferenci, Weimin Kang, Qing X Yang, Robert E Harbaugh, James R Connor, James McInerney
OBJECTIVE Intracranial aneurysms are vascular abnormalities associated with neurological morbidity and mortality due to risk of rupture. In addition, many aneurysm treatments have associated risk profiles that can preclude the prophylactic treatment of asymptomatic lesions. Gamma Knife radiosurgery (GKRS) is a standard treatment for trigeminal neuralgia, tumors, and arteriovenous malformations. Aneurysms associated with arteriovenous malformations have been noted to resolve after treatment of the malformation...
January 12, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29325471/intracranial-subarachnoid-hemorrhage-following-cervical-laminoplasty-a-report-of-two-cases
#5
Yuichi Kondo, Kazunari Fushimi, Makoto Takasawa, Shigeo Kanamori, Takaki Miyagawa, Kenji Kawashima, Kazutoshi Yokoyama, Haruhiko Akiyama
Intracranial hemorrhage is a rare complication of spinal surgery. Case 1 was a 58-year-old man who underwent cervical laminoplasty. No apparent iatrogenic dural rupture or cerebrospinal fluid leakage was observed. An hour after the surgery, the patient had convulsions and became restless thereafter. CT revealed an intracranial SAH. The patient recovered normal consciousness the next morning. Case 2 was a 68-year-old woman who underwent cervical laminoplasty without postoperative CSF leakage. Six days after the surgery, the patient continued to complain of nausea and headache...
January 12, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29318367/-vascular-anomalies-part%C3%A2-ii-vascular-malformations
#6
S Mylonas, S Brunkwall, J Brunkwall
Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later...
January 9, 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#7
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant congenital melanocytic nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
January 5, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29316011/roles-of-venovenous-anastomosis-and-umbilical-cord-insertion-abnormalities-in-birthweight-discordance-in-monochorionic-diamniotic-twin-pregnancies-without-twin-twin-transfusion-syndrome
#8
Hiroko Konno, Takeshi Murakoshi, Akiko Yamashita, Mitsuru Matsushita
AIM: We evaluated risk factors for birthweight discordance in monochorionic diamniotic (MCDA) twin pregnancies without twin-twin transfusion syndrome (TTTS). METHODS: We investigated all MCDA twin placentas injected with colored dye at our institution between 2007 and 2015. We excluded pairs of twins with TTTS, fetal demise, or severe fetal malformation. All pairs of twins were assigned to the discordant group (birthweight discordance ≥ 25%) or the concordant group (birthweight discordance < 25%)...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29307022/fluorescein-videoangiography-during-extracranial-to-intracranial-bypass-surgery-preliminary-results
#9
Alessandro Narducci, Julia Onken, Marcus Czabanka, Nils Hecht, Peter Vajkoczy
BACKGROUND: Over the last years, intraoperative use of fluorescein is gaining ground in the field of neurosurgery, due to development of a microscope-integrated YELLOW 560 module, with reported experiences in brain malignancies, aneurysms, and arteriovenous malformation surgery. The aim of this study is to determine the feasibility and value of fluorescein videoangiography during bypass procedures. METHODS: The authors enrolled 11 patients who underwent extracranial-to-intracranial bypass for moyamoya disease, atherosclerotic steno-occlusive cerebrovascular disease, and flow replacement during a giant middle cerebral artery (MCA) aneurysm treatment...
January 6, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29304872/varicocele-due-to-renal-arteriovenous-malformation-mimicking-a-renal-tumor-a-case-report
#10
Peng-Chao Li, Jia-Yi Zhang, Yan-Yan Xiu, Sheng Liu, Jin-Guo Xia, Hai-Bin Shi, Ning-Hong Song
BACKGROUND: Renal arteriovenous malformation is an aberrant vascular connection between the renal artery and vein. Acquired renal arteriovenous malformation (arteriovenous fistulae) accounts for approximately 70% of renal arteriovenous abnormalities. Congenital renal arteriovenous malformation, relatively rare, can result in significant hematuria which may require arterial embolization or nephrectomy. CASE PRESENTATION: A 64-year-old Asian man presented to the Urology department in our hospital with gradual left scrotal swelling for 2 years...
January 5, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29304535/circulating-angiogenic-mediators-in-patients-with-moderate-and-severe-von-willebrand-disease-a-multicentre-cross-sectional-study
#11
Dafna J Groeneveld, Yvonne V Sanders, Jelle Adelmeijer, Evelien P Mauser-Bunschoten, Johanna G van der Bom, Marjon H Cnossen, Karin Fijnvandraat, Britta A P Laros-van Gorkom, Karina Meijer, Ton Lisman, Jeroen Eikenboom, Frank W G Leebeek
Inhibition of von Willebrand factor (VWF) expression in endothelial cells results in enhanced, possible dysfunctional angiogenesis, consistent with observations of severe gastrointestinal bleedings caused by vascular malformations in patients with von Willebrand disease (VWD). VWF is stored in endothelial Weibel-Palade bodies (WPB) with several other mediators of angiogenesis, like angiopoietin-2, osteoprotegerin and galectin-3. Increased release of angiopoietin-2 has been observed in medium of endothelial cells lacking VWF, but data on circulating levels of angiogenic factors in patients with VWD are lacking...
January 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29303444/reductions-in-brain-pericytes-are-associated-with-arteriovenous-malformation-vascular-instability
#12
Ethan A Winkler, Harjus Birk, Jan-Karl Burkhardt, Xiaolin Chen, John K Yue, Diana Guo, W Caleb Rutledge, George F Lasker, Carlene Partow, Tarik Tihan, Edward F Chang, Hua Su, Helen Kim, Brian P Walcott, Michael T Lawton
OBJECTIVE Brain arteriovenous malformations (bAVMs) are rupture-prone tangles of blood vessels with direct shunting of blood flow between arterial and venous circulations. The molecular and/or cellular mechanisms contributing to bAVM pathogenesis and/or destabilization in sporadic lesions have remained elusive. Initial insights into AVM formation have been gained through models of genetic AVM syndromes. And while many studies have focused on endothelial cells, the contributions of other vascular cell types have yet to be systematically studied...
January 5, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29302291/a-case-series-of-intraosseous-hemangioma-of-the-jaws-various-presentations-of-a-rare-entity
#13
Srinivasa R Chandra, Eleanor Chen, Timothee Cousin, Dolphine Oda
Background: Hemangiomas of the soft tissue are common in the head and neck area, especially in the tongue and in children under ten years of age. Intraosseous hemangiomas of the mandible and maxilla (IHM), on the other hand, are exceedingly rare and are not well characterized. This study presents six IHM cases focusing on the clinical, radiographic, and histologic characteristics. Material and Methods: Six cases of IHM were retrieved from the archives of the Biopsy Services at the University of Washington...
November 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29300373/urine-cell-free-dna-is-a-biomarker-for-nephroblastomatosis-or-wilms-tumor-in-pik3ca-related-overgrowth-spectrum-pros
#14
Marta Biderman Waberski, Marjorie Lindhurst, Kim M Keppler-Noreuil, Julie C Sapp, Laura Baker, Karen W Gripp, Denise M Adams, Leslie G Biesecker
PurposeWe set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesions to Wilms tumor. Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies.MethodsDigital droplet polymerase chain reaction (ddPCR) was used to analyze tissues including urine, saliva, buccal cells, and blood, from eight patients with PROS...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29288088/telangiectasias-in-ataxia-telangiectasia-clinical-significance-role-of-atm-deficiency-and-potential-pathophysiological-mechanisms
#15
M H D Schoenaker, N J H Van Os, M Van der Flier, M Van Deuren, M M Seyger, A M R Taylor, C M R Weemaes, M A A P Willemsen
Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications, the telangiectasias are under emphasised. We here describe the observation that the absence or presence of ATM protein and the level of residual ATM kinase activity are related to the occurrence of telangiectasias and describe the clinical consequences of these vascular malformations...
December 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29284599/spinal-arteriovenous-vascular-malformations-in-patients-with-neural-tube-defects
#16
E Giordan, C Bortolotti, G Lanzino, W Brinjikji
BACKGROUND AND PURPOSE: Neural tube defects, such as tethered cord, intradural lipoma, or myelomeningocele may coexist with spinal vascular malformations. The coexistence of these 2 rare entities is suggestive of a causal relationship between them, which may lead to further understanding of their pathogenesis. We present a series of 6 patients with epidural spinal arteriovenous fistulas associated with neural tube defects. MATERIALS AND METHODS: We retrieved cases of spinal vascular malformations associated with neural tube defects seen at our institution...
December 28, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29280366/outcomes-of-infantile-onset-glaucoma-associated-with-port-wine-birthmarks-and-other-periocular-cutaneous-vascular-malformations
#17
Daniela Reyes-Capó, Kara M Cavuoto, Ta C Chang
PURPOSE: The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. DESIGN: Retrospective case series. METHODS: Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included...
December 27, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29276623/feline-vertebral-angiomatosis-two-cases
#18
Massimo Frizzi, Nicola Ottolini, Claudia Spigolon, Giovanna Bertolini
Case series summary: Two cats aged between 1 and 2 years were presented for paraparesis, general discomfort, back pain and urinary retention. Extradural spinal cord compression at the level of T4 and T8 was evident on CT examination and on MRI. Hemilaminectomy and partial corpectomy were performed to achieve spinal cord decompression. Histopathology of the abnormal bone tissue was suggestive of vertebral angiomatosis. After initially worsening, both cats recovered their normal gait and functional urination...
July 2017: JFMS Open Reports
https://www.readbyqxmd.com/read/29262449/-treatment-analyses-of-143-patients-with-maxillofacial-and-cervical-venous-malformations-involved-in-isthmus-faucium-area
#19
C X Ge, M Z Tai, T Chen, K L Li, Z P Qin
Objective: To analyze the clinical data and summarize therapeutic experiences of cervicofacial venous malformations involving isthmus faucium area. Methods: Clinical records from 143 patients with venous malformations involving isthmus faucium area treated at our hospital between January 2012 and January 2016 were reviewed. There were 70 males and 73 females. Age ranged from 1 to 52 years old, with a median age of 14.5 years. There were 19 cases with lesions involving in only 1 subanatomic area above and 124 cases with lesions involving in more than 1 subanatomic areas, including 63 cases with lesions involving in more than 2 areas...
December 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29251627/pbx-transcription-factors-drive-pulmonary-vascular-adaptation-to-birth
#20
David J McCulley, Mark D Wienhold, Elizabeth A Hines, Timothy A Hacker, Allison Rogers, Ryan J Pewowaruk, Rediet Zewdu, Naomi C Chesler, Licia Selleri, Xin Sun
A critical event in the adaptation to extrauterine life is relaxation of the pulmonary vasculature at birth, allowing for a rapid increase in pulmonary blood flow that is essential for efficient gas exchange. Failure of this transition leads to pulmonary hypertension (PH), a major cause of newborn mortality associated with preterm birth, infection, hypoxia, and malformations including congenital diaphragmatic hernia (CDH). While individual vasoconstrictor and dilator genes have been identified, the coordination of their expression is not well understood...
December 18, 2017: Journal of Clinical Investigation
keyword
keyword
115147
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"