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Vascular genetics surgery

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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
#1
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
#2
M Luo, Y Ji, Y Luo, R Li, W P Fay, J Wu
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. However, the molecular regulation of vascular VN expression is poorly defined. Given the overlapping expression profiles and functions of VN and plasminogen activator inhibitor-1 (PAI-1), we hypothesized that PAI-1 regulates vascular VN expression OBJECTIVES: Determine whether PAI-1 regulates VN expression in SMCs and in vivo...
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
#3
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
#4
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
#5
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
#6
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 Rep
https://www.readbyqxmd.com/read/28832416/targeted-therapy-and-imaging-findings
#7
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
#8
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
#9
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...
July 29, 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
#10
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
https://www.readbyqxmd.com/read/28558378/pial-arteriovenous-fistula-and-capillary-malformation-arteriovenous-malformation-associated-with-rasa1-mutation-2-pediatric-cases-with-successful-surgical-management
#11
A Jessey Chugh, Asim Shahid, Sunil Manjila, Deepak Gulati, Nicholas C Bambakidis
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28555287/genetic-diagnostics-of-inherited-aortic-diseases-medical-strategy-analysis
#12
Y von Kodolitsch, K Kutsche
Genetic aortic syndromes (GAS) include Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. We chose the standpoint of the cardiologist for our analysis. In the first step, the medical goals in the management of GAS are specified. In the second step, the accuracy of genetic diagnostics for GAS is examined...
August 2017: Herz
https://www.readbyqxmd.com/read/28486967/pseudoxanthoma-elasticum
#13
REVIEW
Dominique P Germain
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas...
May 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28473444/role-of-adipose-tissue-endothelial-adam17-in-age-related-coronary-microvascular-dysfunction
#14
Huijuan Dou, Attila Feher, Alec C Davila, Maritza J Romero, Vijay S Patel, Vinayak M Kamath, Monika Beck Gooz, R Daniel Rudic, Rudolf Lucas, David J Fulton, Neal L Weintraub, Zsolt Bagi
OBJECTIVE: A disintegrin and metalloproteinase ADAM17 (tumor necrosis factor-α [TNF]-converting enzyme) regulates soluble TNF levels. We tested the hypothesis that aging-induced activation in adipose tissue (AT)-expressed ADAM17 contributes to the development of remote coronary microvascular dysfunction in obesity. APPROACH AND RESULTS: Coronary arterioles (CAs, ≈90 µm) from right atrial appendages and mediastinal AT were examined in patients (aged: 69±11 years, BMI: 30...
June 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28429283/use-of-hormones-tissue-factors-and-bioengineering-in-the-management-of-hypospadias
#15
Aparajita Mitra, Yogesh Kumar Sarin
Hypospadiology is a rapidly evolving field. Progress in the understanding of how hormonal therapy affects the growth of the phallus has allowed surgeons to optimize the tissues for surgery. But conflicting data from a number of studies and a lack of consensus on drugs, their dosing, mode of delivery and timing of use means that the creation of protocols is unlikely to happen in the near future. Nonetheless, there is a hope and the standardization of scientific reporting will make it easier to compare data at the global level...
April 21, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28347576/familial-classic-trigeminal-neuralgia
#16
B Fernández Rodríguez, C Simonet, D M Cerdán, N Morollón, P Guerrero, C Tabernero, J Duarte
INTRODUCTION: The classic form of trigeminal neuralgia is usually sporadic (no familial clustering). However, around 2% of all cases of trigeminal neuralgia may be familial. Describing this entity may be useful for diagnosing this process and may also be key to determining the underlying causes of sporadic classical trigeminal neuralgia. We report on cases in a series of 5 families with at least 2 members with classic trigeminal neuralgia, amounting to a total of 11 cases. MATERIAL AND METHODS: We recorded cases of familial classical trigeminal neuralgia between March 2014 and March 2015 by systematically interviewing all patients with a diagnosis of trigeminal neuralgia who visited the neurology department on an outpatient basis...
March 24, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28323122/exome-analysis-of-the-evolutionary-path-of-hepatocellular-adenoma-carcinoma-transition-vascular-invasion-and-brain-dissemination
#17
Sílvia Vilarinho, E Zeynep Erson-Omay, Kisha Mitchell-Richards, Charles Cha, Carol Nelson-Williams, Akdes Serin Harmancı, Katsuhito Yasuno, Murat Günel, Tamar H Taddei
Hepatocellular adenoma (HCA) is a rare benign liver tumor, predominantly seen in young women. Its major complications are malignant transformation, spontaneous hemorrhage, and rupture. We describe a case of a young female with no underlying liver disease who presented with acute abdominal pain and was found to have a 17cm heterogeneous mass in the left lobe of the liver. She underwent left hepatectomy and pathology revealed a 14cm moderately differentiated hepatocellular carcinoma (HCC) arising in a shell of a HCA...
July 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28297040/repair-of-total-tractional-retinal-detachment-in-norrie-disease-report-of-technique-and-successful-surgical-outcome
#18
Bozho Todorich, Aristomenis Thanos, Yoshihiro Yonekawa, Antonio Capone
Norrie disease is a rare, but devastating cause of pediatric retinal detachment, universally portending a poor visual prognosis. This paper describes successful surgical management of an infant with total retinal detachment associated with Norrie disease mutation. The infant was a full-term white male who presented with bilateral total funnel retinal detachments (RDs). He underwent genetic testing, which demonstrated single-point mutation 133 G>A transition in exon 2 of the NDP gene. The retinal detachment was managed with translimbal iridectomy, lensectomy, capsulectomy, and vitrectomy...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28255959/a-novel-ccm1-krit1-heterozygous-nonsense-mutation-c-1864c-t-associated-with-familial-cerebral-cavernous-malformation-a-genetic-insight-from-an-8-year-continuous-observational-study
#19
Chenlong Yang, Van Halm-Lutterodt Nicholas, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular abnormality that predominantly affects the central nervous system, but that sometimes encroaches other vital tissues, including the retina, skin, and even liver. The familial form of CCM (FCCM) is considered to be an autosomal dominant disease with incomplete penetrance and variable expression, which is often attributed to mutations in three genes: CCM1, CCM2, and CCM3. We screened a Chinese family diagnosed with FCCM by using Sanger sequencing...
April 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28220199/-novel-pharmaceutical-treatment-approaches-for-gastric-cancer
#20
F Lordick
This review article delineates novel approaches for the pharmaceutical treatment of gastric cancer. A newly developed molecular classification of gastric cancer based on histology, genetic, epigenetic and proteomic characteristics has evolved. It provides a road map for development of new drugs and combinations as well as for patient stratification in clinical research and it is expected to be introduced into clinical practice in the near future. Anti-HER2 targeted treatment is a validated strategy for treatment of metastatic gastric cancer and is now also being studied in the perioperative setting to increase response rates and ultimately survival in patients undergoing curative surgery; however, the resistance mechanisms of HER2-targeted treatment are poorly understood and optimal patient selection remains challenging...
March 2017: Der Pathologe
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