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vascular anomaly

Damiano Regazzoli, Manuela Giglio, Francesca Besana, Pier Pasquale Leone, Akihito Tanaka, Marco Bruno Ancona, Antonio Mangieri, Matteo Montorfano, Francesco Giannini, Giuseppe De Angelis, Antonio Colombo, Azeem Latib
Congenital coronary-pulmonary fistulas are uncommon coronary anomalies. We present a case of a 63-year-old woman with a tortuous fistula between the proximal left anterior descending and main pulmonary artery which was effectively closed using an AMPLATZER Vascular Plug IV.
October 2, 2016: International Journal of Cardiology
Shuhua Li, Yunyun Li, Min Bai, Chuanchen Zhang
BACKGROUND The aim of this study was to investigate duplication of the vertebral artery (VA) using three-dimensional time-of-flight (3D TOF) magnetic resonance angiography (MRA) in a large study population to further our understanding of vascular variations. MATERIAL AND METHODS A retrospective analysis of 3D TOF-MRA data in 12 826 cases was performed. The occurrence rate of VA duplication was calculated and accompanied vascular anomalies were recoded. RESULTS Twenty-one VA duplication patients were found, with an occurrence rate of 0...
October 17, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Paola Serio, Raffaella Nenna, Valentina Fainardi, Laura Grisotto, Annibale Biggeri, Roberto Leone, Luigi Arcieri, Marco Di Maurizio, Denise Colosimo, Roberto Baggi, Bruno Murzi, Lorenzo Mirabile, Fabio Midulla
OBJECTIVES: Surgery for vascular anomalies can occasionally fail to relieve symptoms, especially when severe tracheobronchial malacia persists. We studied outcomes in children who underwent airway stenting for severe post-surgical airway malacia and tested known clinical and surgical prognostic factors. METHODS: Among 257 children evaluated for tracheobronchial vascular compression, we reviewed the clinical charts for the 59 patients (23%) who underwent surgery...
October 15, 2016: European Journal of Cardio-thoracic Surgery
Yi-Ju Ho, Hung-Chi Chen, Shirley H L Chang, Lung-Kung Yeh, David Hui-Kang Ma
BACKGROUND: Sclerocornea, a congenital corneal pathology characterized by bilateral scleralization of the cornea, which can be found in few cases with posterior fossa malformationshemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe (PHACES) syndrome. Presence of vascularization in peripheral cornea and smaller diameter of recipient cornea correlate to poor outcome of penetrating keratoplasty (PKP) in sclerocornea. Here we report a method to preserve limbus during PKP for small, irregular, and scleralized cornea...
October 2016: Medicine (Baltimore)
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D'Angelo
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions have been reported and are indeed genetic cases with a de novo mutation or a mutation inherited from an asymptomatic parent...
October 13, 2016: BMC Medical Genetics
Jason Misurac
Neonatal chronic kidney disease (CKD) occurs with an estimated incidence of 1 in 10,000 live births, whereas the incidence of neonatal end-stage renal disease (ESRD) is about 7.1 per million age-related population. The most frequent etiologies are renal hypoplasia/dysplasia, posterior urethral valves, and other congenital anomalies of the kidney and urinary tract. Other etiologies include polycystic kidney disease, cortical necrosis, and renal vascular thrombosis. Management of CKD focuses primarily on replacing renal functions such as erythropoietin, 1,25-hydroxylation of vitamin D, electrolyte homeostasis/excretion, and, in ESRD, waste product removal...
October 9, 2016: Seminars in Fetal & Neonatal Medicine
Mohammad R Boroumand, M Yashar S Kalani, Robert F Spetzler
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies) syndrome is a congenital and almost exclusively pediatric syndrome associated with vascular malformations of the neuroaxis. We report the case of a complex spinal arteriovenous fistula in an adult woman with CLOVES syndrome treated using a multidisciplinary approach with endovascular embolization and microsurgical technique, and review the medical literature on this disease.
October 8, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Paloma Triana, Mariela Dore, Vanesa Nuñez Cerezo, Manuel Cervantes, Alejandra Vilanova Sánchez, Miriam Miguel Ferrero, Mercedes Díaz González, Juan Carlos Lopez-Gutierrez
Aim of the Study mTOR inhibitors are showing promising results in the management of vascular anomalies. Although current controlled trials remain to be completed, many individual experiences are being published. We present our series of children with complex vascular anomalies treated with sirolimus. Patients and Methods A retrospective review of 41 patients treated with sirolimus between January 2011 and December 2015 was performed: 15% (n = 6) had vascular tumors (4 kaposiform hemangioendotheliomas, 1 PTEN) and 85% (n = 35) had malformations (13 generalized lymphatic anomalies/Gorham-Stout diseases [GSD], 1 kaposiform lymphangiomatosis [KLA], 11 large lymphatic malformations (LMs) in critical areas, 2 lymphedemas, 4 venous malformations, and 4 aggressive arteriovenous malformations [AVM])...
October 10, 2016: European Journal of Pediatric Surgery
Riaz Abdulla, Rouchelle Charmaine Tellis, Roshan Athikari, Jagadish Kudkuli
CONTEXT: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. AIMS: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Du Shiyao, Bin Ni, Xuhua Lu, Ning Xie, Xiang Guo, Qunfeng Guo, Jun Yang, Fei Chen
OBJECTIVE: To analyze the clinical outcomes of our experience with unilateral C2 translaminar screw technique and evaluate its feasibility as an alternative or salvage of the pedicle screw. METHODS: Eleven consecutive adult patients suffering from atlantoaxial instability who underwent hybrid fixation techniques using unilateral translaminar screw (TLS) combined with contralateral C2 pedicle screw (PS) and bilateral C1 lateral mass screw via posterior arch (LMS) from January 2010 to December 2013 were retrospectively investigated...
October 4, 2016: World Neurosurgery
Kyungsun Nam, Mi-Jin Kang, Kyung Eun Bae, Tae Kyung Kang
Meandering right pulmonary vein is a rare vascular anomaly that requires accurate diagnosis to avoid unnecessary procedures and unintended vascular injury during operation. We describe an unusual meandering right upper lobe pulmonary vein draining into the left atrium via the right middle lobe pulmonary vein.
September 30, 2016: Surgical and Radiologic Anatomy: SRA
Arvin R Wali, David R Santiago-Dieppa, Jeffrey A Steinberg, Ali Alattar, Vincent J Cheung, Royya Modir, Alexander A Khalessi, J Scott Pannell
Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies...
August 26, 2016: Curēus
L A Salah, O Ljungberg, Å Svensson
A 6 years old boy was referred to the multidisciplinary Center for Vascular Anomalies in Malmö, Sweden due to a red plaque on his left shoulder since birth. A preliminary diagnosis of hemangioma was previously given to the family but the lesion has not shown any signs of progression or involution. Furthermore, there was no history of a significant change in size or shape. The main complaint, apart from the cosmetic appearance, was itching once in a while. There were no aggravating or relieving factors. There was also no other family member with history of a similar lesion...
September 29, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Swati Mishra, Youngshik Choe, Samuel J Pleasure, Julie A Siegenthaler
Growth and maturation of the cerebrovasculature is a vital event in neocortical development however mechanisms that control cerebrovascular development remain poorly understood. Mutations in or deletions that include the FOXC1 gene are associated with congenital cerebrovascular anomalies and increased stroke risk in patients. Foxc1 mutant mice display severe cerebrovascular hemorrhage at late gestational ages. While these data demonstrate Foxc1 is required for cerebrovascular development, its broad expression in the brain vasculature combined with Foxc1 mutant's complex developmental defects have made it difficult to pinpoint its function(s)...
September 23, 2016: Developmental Biology
Beverley Newman, Kate Hanneman, Frandics Chan
Fifth arch anomalies are rare and complex and frequently misdiagnosed or mistaken for other entities. We report a double arch vascular ring that is thought to consist of right fourth arch and left fifth arch components, a previously undescribed persistent fifth arch variant. The currently recognized spectrum and classification of fifth arch vascular anomalies are expanded along with illustrative images to justify the proposed changes. Reviewing and expanding the classification of fifth arch anomalies to include a double arch ring variant will promote recognition, correct diagnosis and appropriate management of these anomalies...
September 26, 2016: Pediatric Radiology
Chan-Hee Lee, Chang-Woo Son, Jong-Seon Park
Coronary artery aneurysm is a rare congenital or vascular inflammation-based anomaly for which the clinical course and optimal timing of treatment remain unclear. Here, we report a case of sudden death caused by a giant coronary artery aneurysm of the left anterior descending artery that presented with chest pain. This case suggests that urgent interventional or surgical repair is needed when a large coronary aneurysm presents with acute ischemic symptoms.
August 25, 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
Kyu Sung Choi, Young Hun Choi, Jung-Eun Cheon, Woo Sun Kim, In One Kim
PURPOSE: To assess the usefulness of the relative position of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) in diagnosing intestinal malrotation in situs anomaly. MATERIALS AND METHODS: From January 2004 to April 2015, 33 patients with situs anomalies were enrolled in this study who underwent abdominal USG, CT or MRI as well as upper gastrointestinal series (UGIS) or surgery: situs inversus (n=16), left isomerism (n=10), and right isomerism (n=7); age 21...
October 2016: European Journal of Radiology
Graham M Strub, Andrew L Kirsh, Mark E Whipple, Winston P Kuo, Rachel B Keller, Raj P Kapur, Mark W Majesky, Jonathan A Perkins
Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1-expressing (GLUT-1-expressing) IH endothelial cells and in the plasma of children with IH...
2016: JCI Insight
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
September 20, 2016: Journal of Molecular Neuroscience: MN
Sanaa Itchimouh, Karima Khabtou, Sakher Mahdaoui, Houssine Boufettal, Naima Samouh
The incidence of uterine malformations affecting reproduction is difficult to assess. Their identification requires a specific assessment (hysterosalpingography, hysteroscopy, laparoscopy). Spontaneous fertility can be affected depending on the type of uterine abnormality. All these abnormalities can affect the evolution of pregnancy causing early and late miscarriage, ectopic pregnancy, threat of premature labour, premature labour, vascular pathologies during pregnancy and inadequate intra-uterine growth. Bicornuate uterus is the most common uterine malformation and represents about half of all uterine anomalies The occurrence of this type of pregnancy is associated with an increased risk of maternal mortality, but early diagnosis and proper monitoring can lead pregnancies to term on malformed uterus...
2016: Pan African Medical Journal
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