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Vascular malformations

Pan Huang, Zhengrong Zhou, Fangxiong Shi, Genbao Shao, Ran Wang, Jintian Wang, Kangxin Wang, Wei Ding
The aim of the present study was to determine the effects of the insulin-like growth factor 1 (IGF-1)/phosphatase and tensin homologue deleted on chromosome 10 (PTEN)/Akt/forkhead box (FoxO) signaling pathway on male reproduction in rats subjected to water immersion and restraint stress (WRS). Sperm morphology, sperm malformation rate, and serum testosterone concentration were analyzed following WRS. In addition, the expression levels and immunolocalization of IGF‑1, PTEN, Akt and FoxO proteins, as well as the rate of cell apoptosis in rat testes, were investigated...
October 24, 2016: Molecular Medicine Reports
Anna M Randi, Mike A Laffan
The recent discovery that von Willebrand factor (VWF) regulates blood vessel formation has opened a novel perspective on the function of this complex protein. VWF was discovered as a key component of haemostasis, capturing platelets at sites of endothelial damage and synthesized in megakaryocytes and endothelial cells (EC). In recent years, novel functions and binding partners have been identified for VWF. The finding that loss of VWF in EC results in enhanced, possibly dysfunctional angiogenesis is consistent with the clinical observations that in some patients with Von Willebrand disease (VWD), vascular malformations can cause severe gastrointestinal (GI) bleeding...
October 25, 2016: Journal of Thrombosis and Haemostasis: JTH
Neil Vargesson, David R Hootnick
Limb malformations are amongst the most common and visible birth effects. Causes have been purported to include genetic aberrations as well as teratogens, such as thalidomide. Here we review the evidence for vascular disruption in the genesis of limb malformations through abnormal arterial transitioning and from events such as amniocentesis, uterine constriction, and through teratogen exposure. We use several clinical and experimental examples and highlight the need to understand more about the role the vascular system plays in the molecular mechanisms underpinning normal limb development...
October 20, 2016: Reproductive Toxicology
Shyam Sabat, Neil Mannering, Amit Agarwal
Hypertrophic Olivary Degeneration (HOD) is a rare neurological condition caused by trans-synaptic degeneration in the brainstem and cerebellum, resulting in varied clinical symptoms, classical being palatal tremors, along with characteristic imaging presentation. Large number of pathologic lesions can cause this condition, ranging from ischemic stroke to neoplasm. The most common conditions include hemorrhage, vascular malformations and infarct. Magnetic resonance scan (MRI) is the imaging modality of choice which shows signal changes with hypertrophy of the inferior olivary nucleus, as well as the primary underlying pathology...
November 15, 2016: Journal of the Neurological Sciences
Umut Yilmaz
CLINICAL/METHODICAL ISSUE: The posterior fossa is the location of some specific vascular pathologies and vascular anatomical variants that are important for radiologists to know and recognize. Vascular malformations that are also found in the supratentorial region have some divergent characteristics in the posterior fossa. PRACTICAL RECOMMENDATIONS: Knowledge of the vascular anatomy of the posterior fossa and its variants is important for an understanding of vascular pathologies...
October 21, 2016: Der Radiologe
F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
Klaus-Peter Stein, Isabel Wanke, Neriman Oezkan, Yuan Zhu, I Erol Sandalcioglu, Michael Forsting, Ulrich Sure
BACKGROUND: Multiple AVMs are exceptionally rare lesions and only a few larger series have been published, including other vascular pathologies, such as arterio-venous fistulae (AVF) or patients with hereditary syndromes. Our study presents clinical, angiographic, and therapeutic characteristics of patients harboring sporadic multiple AVMs. METHODS: Basic demographic data, vascular architecture, clinical presentation, treatment strategies, and treatment outcome were analyzed retrospectively from patients with cerebral AVMs treated in our department between 1990 and 2015...
October 20, 2016: Acta Neurochirurgica
Tilman Schubert, Yijing Wu, Kevin M Johnson, Oliver Wieben, Jane Maksimovic, Charles Mistretta, Patrick Turski
OBJECTIVES: Time-of-arrival (TOA) maps can be derived from high-resolution 4-dimensional (4D) contrast-enhanced magnetic resonance angiography (MRA) data sets to provide a quantitative description of contrast material arrival time in each voxel. This information can further be processed to create a compressed time evolution curve that virtually shortens the contrast bolus (virtual bolus [VB]). The purpose of this project was to determine whether TOA-enhanced 4D MRA and/or VB imaging improve the display of contrast kinetics in patients with vascular disease...
November 2016: Investigative Radiology
Dale Ding, Zhiyuan Xu, Han-Hsun Shih, Robert M Starke, Chun-Po Yen, Or Cohen-Inbar, Jason P Sheehan
BACKGROUND: Incompletely obliterated cerebral arteriovenous malformations (AVMs) after initial treatment with stereotactic radiosurgery (SRS) can be treated with a repeat session of SRS. However, the relative efficacy of repeat vs initial SRS is not well specified. OBJECTIVE: To retrospectively compare in matched cohorts the outcomes of repeat vs initial SRS for the treatment of matched cohorts with angioarchitecturally similar AVMs. METHODS: We studied a data set of patients with AVM treated with radiosurgery during the period spanning 1989 to 2013...
November 2016: Neurosurgery
Payam Saadat, Marzie Adabi
BACKGROUND: Spinal dural AVF is the most common type of spinal vascular malformation. However, presenting symptoms differ according to site of spinal involvement. This study described a case of arteriovenous malformation with paraparesis and incontinence. CASE PRESENTATION: Diagnosis of patient was confirmed by clinical and imaging examination using magnetic resonance image and ruling out other possibilities. RESULT: A definitive diagnosis of arterio venous fistula was confirmed by clinical and MRI examination and demonstrated abnormalities compatible with dural arteriovenous fistula...
2016: Caspian Journal of Internal Medicine
Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
Snehal R Patel, Shivank Madan, Omar Saeed, Mohammed Algodi, Anne Luke, Marc Gibber, Daniel J Goldstein, Ulrich P Jorde
OBJECTIVES: This study sought to determine whether the nasal mucosa can serve as a surrogate for evaluating arteriovenous malformations (AVMs) related gastrointestinal (GI) bleeding in patients supported by continuous flow left ventricular assist devices (CF LVADs). BACKGROUND: Bleeding from the mucosal surfaces of GI tract, particularly AVMs, is the most common complication of CF LVAD support. The pathophysiology of AVM formation during CF LVAD support is of critical interest yet poorly understood; in large part because of the length and accessibility of the GI tract...
September 29, 2016: JACC. Heart Failure
Samuel Lapalme-Remis, Gregory D Cascino
PURPOSE OF REVIEW: This article discusses structural and functional neuroimaging findings in patients with seizures and epilepsy. The indications for neuroimaging in these patients and the potential diagnostic utility of these studies are presented. RECENT FINDINGS: Patients presenting with new seizures typically require urgent imaging to rule out a critical underlying cause. MRI is the structural neuroimaging procedure of choice in individuals with epilepsy. Specific epilepsy protocols should be considered to increase the diagnostic yield of neuroimaging in patients with structural lesions associated with focal or generalized seizures...
October 2016: Continuum: Lifelong Learning in Neurology
Jason M Davies, Michael T Lawton
OBJECTIVE Treatment of cerebrovascular malformations has grown in complexity with the development of multimodal approaches, including microsurgery, endovascular treatments, and radiosurgery. In spite of this changing standard of care, the provision of care continues across a variety of settings. The authors sought to determine the risk of adverse outcome after treatment of patients with vascular malformations in the US. Patient, surgeon, and hospital characteristics, including volume, were tested as potential outcome predictors...
October 14, 2016: Journal of Neurosurgery
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
R Spreafico, L Sordo, R Bellotto, M Schipano, A Rescaldani, F Parmigiani
Arteriovenous malformation (AVM) of the head and neck is a rare and potentially life threatening entity due to massive haemorrhage. There are several indications for treatment, including age of the patient and location, extent and type of vascular malformation. Endovascular therapy can effectively cure most lesions with limited tissue involvement. Surgery can be used in selected cases in combination with embolization. Here we report the case of a young woman affected by a massive AVM on the left side of the mandible and submandibular region, and also review the literature on AVM with special attention to treatment strategies...
August 2016: Acta Otorhinolaryngologica Italica
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
Beata Pucher, Jaroslaw Szydlowski, Wieslaw Smoczyk, Katarzyna Jonczyk-Potoczna, Michal Grzegorowski, Aleksandra Korytowska
Tonsillectomy and adenoidectomy are the most common surgical procedures in pediatric otolaryngology. The incidence of primary hemorrhage after tonsillectomy in children ranges from 0.38 to 6%. The prevalence of secondary bleeding occurs in 0.5%-9.3% cases [1]. Authors present a case of an 11-year-old girl who experienced 6 delayed, massive post-tonsillectomy bleedings as a result of presence of vascular malformation and the activation of collateral circulation as a result of the left ECA ligature.
November 2016: International Journal of Pediatric Otorhinolaryngology
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
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
October 8, 2016: Familial Cancer
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