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Vascular genetics surgery

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https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#1
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
March 23, 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29553977/long-term-fate-of-denervated-skeletal-muscle-after-microvascular-flap-transfer
#2
Hak Chang, SeungHwan Hwang, SooA Lim, SuRak Eo, Kyung Won Minn, Ki Yong Hong
BACKGROUND: Muscle flap is a valuable option in soft tissue reconstruction. Denervated skeletal muscle is known to undergo degeneration. However, information regarding histological and genetic changes in muscle free flap without reinnervation over long-term follow-up remains unclear. METHODS: We collected flap muscles obtained during secondary exploration surgery after more than 15 years of previous muscle free flap without reinnervation. Compared with normal muscle and fat, histomorphometric and gene expression analysis of flap muscle were performed...
March 16, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29539628/prenatal-abo-rhd-genotyping-a-new-paradigm-to-allow-for-fresh-whole-blood-for-cardiopulmonary-bypass-in-the-immediate-newborn-period
#3
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29534984/fibromuscular-dysplasia-contemporary-concepts-and-future-directions
#4
REVIEW
Nupoor Narula, Daniella Kadian-Dodov, Jeffrey W Olin
Fibromuscular dyplasia (FMD) is an under-recognized non-atherosclerotic, non-inflammatory arteriopathy that occurs most commonly in middle-aged women, but may affect individuals of all age groups. FMD may result in stenosis, aneurysm, dissection, occlusion, or arterial tortuosity. Recently published data demonstrated a genetic association of FMD with a variant in the phosphatase and actin regulator 1 gene (PHACTR1), substantiating that the pathogenesis of this condition has genetic contribution. The renal and extracranial carotid and vertebral arteries are most often involved, although any arterial bed may be affected...
March 10, 2018: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/29521830/human-derived-amniotic-membrane-is-associated-with-decreased-postoperative-intraperitoneal-adhesions-in-a-rat-model
#5
John P Kuckelman, Joseph Kononchik, Joshua Smith, Kevin R Kniery, Jeffrey T Kay, Zachary S Hoffer, Scott R Steele, Vance Sohn
BACKGROUND: Complications from adhesions after intra-abdominal surgery accounts for ~6% of hospital admissions. Currently, hyaluronate/carboxymethylcellulose represents the main option to prevent postoperative adhesion formation. Human amniotic membrane contains inherent anti-inflammatory properties that mitigate adhesion formation. OBJECTIVE: This study aimed to evaluate adhesion generation after surgical trauma with amniotic membranes compared with standard intraperitoneal adhesion barriers...
April 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29516089/scarring-in-patients-with-pik3ca-related-overgrowth-syndromes
#6
Jack E Steiner, Catherine E Cottrell, Jenna L Streicher, John N Jensen, David M King, Patricia E Burrows, Dawn H Siegel, Megha M Tollefson, Beth A Drolet, Katherine B Püttgen
Importance: Patients with somatic overgrowth commonly require surgical intervention to preserve function and improve cosmesis. To our knowledge no observation of scarring outcomes in this population has been published to date. Objective: To observe the frequency of abnormal scarring in patients with somatic overgrowth and sequencing-verified mutations in the PIK3CA gene. Design, Setting, and Participants: This retrospective study evaluated scarring outcomes in patients with PIK3CA-related overgrowth...
March 7, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29479523/renal-cell-carcinoma-in-von-hippel-lindau-disease-from-tumor-genetics-to-novel-therapeutic-strategies
#7
REVIEW
Emily Kim, Stefan Zschiedrich
von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by mutations in the VHL tumor-suppressor gene, leading to the dysregulation of many hypoxia-induced genes. Affected individuals are at increased risk of developing recurrent and bilateral kidney cysts and dysplastic lesions which may progress to clear cell renal cell carcinoma (ccRCC). Following the eponymous VHL gene inactivation, ccRCCs evolve through additional genetic alterations, resulting in both intratumor and intertumor heterogeneity...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#8
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/29305324/real-world-outcomes-in-patients-with-neovascular-age-related-macular-degeneration-treated-with-intravitreal-vascular-endothelial-growth-factor-inhibitors
#9
REVIEW
Hemal Mehta, Adnan Tufail, Vincent Daien, Aaron Y Lee, Vuong Nguyen, Mehmet Ozturk, Daniel Barthelmes, Mark C Gillies
Clinical trials identified intravitreal vascular endothelial growth factor inhibitors (anti-VEGF agents) have the potential to stabilise or even improve visual acuity outcomes in neovascular age-related macular degeneration (AMD), a sight-threatening disease. Real-world evidence allows us to assess whether results from randomised controlled trials can be applied to the general population. We describe the development of global registries, in particular the Fight Retinal Blindness! registry that originated in Australia, the United Kingdom AMD Electronic Medical Records User Group and the IRIS registry in the USA...
January 2, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29300224/achilles-tendinopathy
#10
Umile Giuseppe Longo, Mario Ronga, Nicola Maffulli
Achilles tendinopathy is a common cause of disability. Despite the economic and social relevance of the problem, the causes and mechanisms of Achilles tendinopathy remain unclear. Tendon vascularity, gastrocnemius-soleus dysfunction, age, sex, body weight and height, pes cavus, and lateral ankle instability are considered common intrinsic factors. The essence of Achilles tendinopathy is a failed healing response, with haphazard proliferation of tenocytes, some evidence of degeneration in tendon cells and disruption of collagen fibers, and subsequent increase in noncollagenous matrix...
March 2018: Sports Medicine and Arthroscopy Review
https://www.readbyqxmd.com/read/29298843/nis-expression-in-thyroid-tumors-relation-with-prognosis-clinicopathological-and-molecular-features
#11
Catarina Tavares, Maria João Coelho, Catarina Eloy, Miguel Melo, Adriana Gaspar da Rocha, Ana Pestana, Rui Batista, Luciana Bueno Ferreira, Elisabete Rios, Samia Selmi-Ruby, Bruno Cavadas, Luísa Pereira, Manuel Sobrinho Simões, Paula Soares
Thyroid cancer therapy is based on surgery followed by radioiodine treatment. The incorporation of radioiodine by cancer cells is mediated by sodium iodide symporter (NIS) (codified by the SLC5A5 gene), that is functional only when targeted to the cell membrane. We aimed to evaluate if NIS expression in thyroid primary tumors would be helpful in predicting tumor behavior, response to therapy and prognosis. NIS expression was addressed by qPCR and immunohistochemistry. In order to validate our data, we also studied SLC5A5 expression on 378 primary papillary thyroid carcinomas from The Cancer Genome Atlas (TCGA) database...
January 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29287914/loss-of-c-kit-function-impairs-arteriogenesis-in-a-mouse-model-of-hindlimb-ischemia
#12
Diana R Hernandez, Adriana Artiles, Juan C Duque, Laisel Martinez, Mariana T Pinto, Keith A Webster, Omaida C Velazquez, Roberto I Vazquez-Padron, Roberta M Lassance-Soares
BACKGROUND: Arteriogenesis is a process whereby collateral vessels remodel usually in response to increased blood flow and/or wall stress. Remodeling of collaterals can function as a natural bypass to alleviate ischemia during arterial occlusion. Here we used a genetic approach to investigate possible roles of tyrosine receptor c-Kit in arteriogenesis. METHODS: Mutant mice with loss of c-Kit function (KitW/W-v ), and controls were subjected to hindlimb ischemia...
April 2018: Surgery
https://www.readbyqxmd.com/read/29260978/dna-hypermethylation-as-a-predictor-of-extramural-vascular-invasion-emvi-in-rectal-cancer
#13
Rory F Kokelaar, Huw G Jones, Jeremy Williamson, Namor Williams, A Paul Griffiths, John Beynon, Gareth J Jenkins, Dean A Harris
PURPOSE: DNA hypermethylation in gene promoter regions (CpG islands) is emerging as an important pathway in colorectal cancer tumourigenesis. Whilst genetic mutations have been associated with extramural vascular invasion (EMVI) in rectal cancer, no such association has yet been made with epigenetic factors. METHODS: 100 consecutive neoadjuvant-naïve patients undergoing curative surgery for rectal were classified according to the presence or absence of EMVI on histopathological examination...
March 4, 2018: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29168109/a-case-of-glomangiopericytoma-at-the-nasal-septum
#14
Takashi Anzai, Tsuyoshi Saito, Sho Tsuyama, Miri Toh, Katsuhisa Ikeda, Shin Ito
Glomangiopericytoma (GPC) is a rare sinonasal perivascular tumor that accounts for < 0.5-1% of all sinonasal tumors. GPC is categorized as a low-grade neoplasm with borderline malignancy and a tendency of local recurrence. GPC is a rare mesenchymal neoplasm characterized by the perivascular proliferation of tumor cells, and it requires being distinguished from solitary fibrous tumors. Here, we report a case of GPC in a 68-year-old male patient who presented at the emergency room of our hospital with a complaint of sudden epistaxis...
November 22, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29125417/loss-of-mechanosensitive-sclerostin-may-accelerate-cranial-bone-growth-and-regeneration
#15
Kyung Shin Kang, Jeff Lastfogel, Laurie L Ackerman, Andrew Jea, Alexander G Robling, Sunil S Tholpady
OBJECTIVE Cranial defects can result from trauma, infection, congenital malformations, and iatrogenic causes and represent a surgical challenge. The current standard of care is cranioplasty, with either autologous or allogeneic material. In either case, the intrinsic vascularity of the surrounding tissues allows for bone healing. The objective of this study was to determine if mechanotransductive gene manipulation would yield non-weight-bearing bone regeneration in a critical size calvarial defect in mice. METHODS A mouse model of Sost deletion in Sost knockout (KO) mice was created in which the osteocytes do not express sclerostin...
November 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29125001/hypoxia-due-to-positive-pressure-ventilation-in-edwards-syndrome-a-case-report
#16
Sun Kyung Hoon, Seung-Woo Kang, Sang-Hyun Kwak, Joungmin Kim
Edwards' syndrome also known as trisomy 18 is a congenital disorder associated with cardiovascular issues including ventricular septal defect (VSD), atrial septal defect (ASD) and patent duct arteriosus (PDA). An emergency colostomy was performed on a neonate born with an imperforate anus. Pre-operative transthoracic echocardiography showed presence of VSD, a patent foramen ovale (PFO) or ASD. Even though the baby had a good general condition and optimal peripheral oxygen saturation (SpO2 ), during positive pressure ventilation, she suffered severe hypoxia (50% SpO2 )...
February 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29102976/giant-phaeochromocytoma-presenting-with-an-acute-stroke-reappraising-phaeochromocytoma-surveillance-for-the-neurofibromatosis-type-1-phakomatosis
#17
Yingshan Lee, Leon Yuan Rui Tan, Yong Howe Ho, Melvin Khee Shing Leow
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with reduced lifespan attributed largely to malignancy and vascular causes. One of the tumours associated with NF1 is phaeochromocytoma. The phaeochromocytoma has earned the moniker, a 'great mimicker', due to its varied means of presentation. We present a patient with NF1 who was diagnosed with a giant 20 cm phaeochromocytoma after suffering from an ischaemic stroke. Current guidelines do not advocate surveillance of phaeochromocytoma in asymptomatic patients with NF1, unlike other genetic syndromes associated with phaeochromocytoma...
November 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29033513/the-endothelial-nitric-oxide-synthase-nos3-786t-c-genetic-polymorphism-in-chronic-heart-failure-effects-of-mutant-786c-allele-on-long-term-mortality
#18
Sait Terzi, Ayşe Emre, Kemal Yesilcimen, Selçuk Yazıcı, Aysun Erdem, Ufuk Sadik Ceylan, Figen Ciloglu
BACKGROUND: Nitric oxide plays an important role in the regulation of basal vascular tone and cardiac myocyte function. We investigated the NOS3-786T>C polymorphism in chronic heart failure (CHF) and its effects on long-term mortality. METHODS: Ninety-one patients with CHF who were referred to the Department of Cardiology of Siyami Ersek Cardiovascular and Thoracic Surgery Center for cardiopulmonary exercise testing between April 2001 and January 2004 and 30 controls were enrolled in this study...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29028290/plasminogen-activator-inhibitor-1-regulates-the-vascular-expression-of-vitronectin
#19
M Luo, Y Ji, Y Luo, R Li, W P Fay, J Wu
Essentials Vitronectin (VN) is produced by smooth muscle cells (SMCs) and promotes neointima formation. We studied the regulation of vascular VN expression by plasminogen activator inhibitor-1 (PAI-1). PAI-1 stimulates VN gene expression in SMCs by binding LDL receptor-related protein 1. Stimulation of VN gene expression may be a mechanism by which PAI-1 controls vascular remodeling. SUMMARY: Background Increased expression of vitronectin (VN) by smooth muscle cells (SMCs) promotes neointima formation after vascular injury, and may contribute to chronic vascular diseases, such as atherosclerosis...
December 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28963101/chronic-psychological-stress-accelerates-vascular-senescence-and-impairs-ischemia-induced-neovascularization-the-role-of-dipeptidyl-peptidase-4-glucagon-like-peptide-1-adiponectin-axis
#20
Limei Piao, Guangxian Zhao, Enbo Zhu, Aiko Inoue, Rei Shibata, Yanna Lei, Lina Hu, Chenglin Yu, Guang Yang, Hongxian Wu, Wenhu Xu, Kenji Okumura, Noriyuki Ouchi, Toyoaki Murohara, Masafumi Kuzuya, Xian Wu Cheng
BACKGROUND: Exposure to psychosocial stress is a risk factor for cardiovascular disease, including vascular aging and regeneration. Given that dipeptidyl peptidase-4 (DPP4) regulates several intracellular signaling pathways associated with the glucagon-like peptide-1 (GLP-1) metabolism, we investigated the role of DPP4/GLP-1 axis in vascular senescence and ischemia-induced neovascularization in mice under chronic stress, with a special focus on adiponectin -mediated peroxisome proliferator activated receptor-γ/its co-activator 1α (PGC-1α) activation...
September 28, 2017: Journal of the American Heart Association
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