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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/29305324/real-world-outcomes-in-patients-with-neovascular-age-related-macular-degeneration-treated-with-intravitreal-vascular-endothelial-growth-factor-inhibitors
#2
REVIEW
Hemal Mehta, Adnan Tufail, Vincent Daien, Aaron 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
#3
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
#4
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
#5
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. Blood flow recovery was evaluated pre-, post-, and weekly after ischemia...
December 26, 2017: Surgery
https://www.readbyqxmd.com/read/29260978/dna-hypermethylation-as-a-predictor-of-extramural-vascular-invasion-emvi-in-rectal-cancer
#6
Rory F Kokelaar, Huw G Jones, Jeremy Williamson, Namor Williams, A Paul Griffiths, John Beynon, Gareth J Jenkins, Dean A Harris
Structured Abstract 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...
December 20, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29168109/a-case-of-glomangiopericytoma-at-the-nasal-septum
#7
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
#8
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
#9
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)...
January 1, 2017: 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
#10
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
#11
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
#12
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...
October 13, 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
#13
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
https://www.readbyqxmd.com/read/28953685/gastric-cancer-in-a-situs-inversus-totalis-patient-with-multiple-intestinal-and-vessel-variations-related-to-gastrectomy-surgery-a-case-report-and-literature-review
#14
Yinghao Cao, Jiang Li, Liming Shen, Jiliang Wang, Zefeng Xia, KaiXiong Tao, Guobin Wang, Kailin Cai
RATIONALE: Situs inversus totalis (SIT) is a rare congenital anomaly characterized by complete inversion of the abdominal and thoracic organs, and often involves multiple genetic mutations. The most suitable surgical technique for patients with multiple vessel and organ variations as well as SIT remains unclear. Furthermore, there has been insufficient clinical evidence that demonstrates which surgical techniques achieve the best outcomes. Finally, the standard of care has not yet been determined...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28927471/a-vascular-endothelial-growth-factor-a-genetic-variant-is-associated-with-improved-ventricular-function-and-transplant-free-survival-after-surgery-for-non-syndromic-chd
#15
Constantine D Mavroudis, Daniel Seung Kim, Nancy Burnham, Alexandra H Morss, Jerry H Kim, Amber A Burt, David R Crosslin, Donna M McDonald-McGinn, Elaine H Zackai, Meryl S Cohen, Susan C Nicolson, Thomas L Spray, Ian B Stanaway, Deborah A Nickerson, Mark W Russell, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
BACKGROUND: We have previously shown that the minor alleles of vascular endothelial growth factor A (VEGFA) single-nucleotide polymorphism rs833069 and superoxide dismutase 2 (SOD2) single-nucleotide polymorphism rs2758331 are both associated with improved transplant-free survival after surgery for CHD in infants, but the underlying mechanisms are unknown. We hypothesised that one or both of these minor alleles are associated with better systemic ventricular function, resulting in improved survival...
September 20, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28856331/phaeochromocytoma-and-paraganglioma-excision-involving-the-great-vessels
#16
U Srirangalingam, K Gunganah, R Carpenter, S Bhattacharya, S J Edmondson, W M Drake
OBJECTIVE/BACKGROUND: Phaeochromocytomas and paragangliomas are vascular neuroendocrine tumours distributed between the neck and the pelvis and may be associated with catecholamine secretion. The aim of the study was to describe the complex surgical management required to excise these tumours when in close proximity to the great vessels (aorta and vena cava). METHODS: This was a retrospective case series. Patients included those undergoing surgical excision of a phaeochromocytoma or paraganglioma involving the great vessels...
2017: EJVES Short Reports
https://www.readbyqxmd.com/read/28832416/targeted-therapy-and-imaging-findings
#17
Girish S Shroff, Marcelo F Benveniste, Patricia M de Groot, Carol C Wu, Chitra Viswanathan, Vassiliki A Papadimitrakopoulou, Mylene T Truong
Non-small cell lung cancer (NSCLC) is usually diagnosed when it is not amenable to curative surgery or radiation. Many of these patients are candidates for systemic therapy. Median survival is only approximately 10 months, and, accordingly, treatment in advanced NSCLC is evolving toward a more personalized approach with the identification of genetic abnormalities based on biomarkers. For example, gene mutations in EGFR (epidermal growth factor receptor) and ALK (anaplastic lymphoma kinase) lead to a cascade of pathways resulting in uncontrolled growth, proliferation, and survival of tumor cells...
September 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28810573/warfarin-induced-life-threatening-bleeding-associated-with-a-cyp3a4-loss-of-function-mutation-in-an-acute-limb-ischemia-patient-case-report-and-review-of-the-literature
#18
Xiao-Wei Ma, Chang-Ning Hao, Zhi-Chun Gu, Meng Ye, Min Li, Lan Zhang
Patients with acute limb ischemia, deep venous thrombosis and pulmonary artery embolism may be treated with warfarin. The dose-response interaction of warfarin is associated with numerous factors, depending on which an uncommon life-threatening bleeding may occur. The present case study reported on a patient with acute limb ischemia and a history of warfarin-induced bleeding ten years previously and who again developed life threatening bleeding associated with warfarin treatment and received vascular surgery...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28756566/pten-hamartoma-of-the-soft-tissue-the-initial-manifestation-of-an-underlying-pten-hamartoma-tumor-syndrome-in-a-4-year-old-female
#19
Charles B Chism, Lindsay Crawford, Amanda Tchakarov, Alyaa Al-Ibraheemi, Nicholas M Beckmann
A 4-year-old female was referred to pediatric orthopedic surgery for left leg pain and limping for 3 months following a motor vehicle collision. Recently, the patient's mother had noted left knee swelling and dragging of the left leg when walking. Past medical history was significant for hip dysplasia with slight leg length discrepancy. The patient was otherwise healthy. Physical examination was remarkable for left pre-patellar soft tissue fullness with normal range of motion. There was no warmth or tenderness...
November 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28745442/modification-of-pedicle-lengthening-through-perforator-transposition-in-free-anterolateral-thigh-flaps-with-pedicle-size-discrepancy-a-case-report
#20
Hyun Ho Han, Daiwon Jun, Goo Hyun Mun, Suk-Ho Moon
In spite of thorough presurgical planning, emergency situations requiring longer pedicle length may arise during anterolateral thigh (ALT) free flap surgeries. While performing vessel graft for pedicle lengthening, discrepancy may occur because of a certain genetic predisposition or vascular variation at the anastomosis site of the graft vessel and the flap pedicle. A 76-year-old male patient with neurofibromatosis type I had a 15 x 10 cm defect, which was caused by radical excision of a malignant peripheral nerve sheath tumor on his back...
July 26, 2017: Microsurgery
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