Read by QxMD icon Read

Vascular genetics surgery

Matthew J Eagleton
BACKGROUND: Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well...
September 26, 2016: Journal of Vascular Surgery
Kimberly J Dunham-Snary, Danchen Wu, Edward A Sykes, Amar Thakrar, Leah Rg Parlow, Jeffrey D Mewburn, Joel L Parlow, Stephen L Archer
Hypoxic pulmonary vasoconstriction (HPV) is a homeostatic mechanism that is intrinsic to the pulmonary vasculature. Intrapulmonary arteries constrict in response to alveolar hypoxia, diverting blood to better-oxygenated lung segments, thereby optimizing ventilation-perfusion matching and systemic oxygen delivery. In response to alveolar hypoxia, a mitochondrial sensor dynamically changes reactive oxygen species and redox couples in PASMC. This inhibits potassium channels, depolarizes PASMC, activates voltage-gated calcium channels, and increases cytosolic calcium, causing vasoconstriction...
September 16, 2016: Chest
J M Espinosa-Sanchez, J A Lopez-Escamez
Menière's disease (MD) is a chronic multifactorial disorder of the inner ear characterized by episodic vestibular symptoms associated with sensorineural hearing loss, tinnitus, and aural pressure. Epidemiologic and genomic evidence supports a genetic susceptibility with multiple biochemical pathways involved, including the endocrine system, innate immune response, and autonomic nervous system. Allergens, infectious agents, vascular events, or genetic factors could modify inner-ear homeostasis and trigger MD...
2016: Handbook of Clinical Neurology
Alexander M Tatara, Sarita R Shah, Nagi Demian, Tang Ho, Jonathan Shum, Jeroen J J P van den Beucken, John A Jansen, Mark E Wong, Antonios G Mikos
: Reconstruction of large mandibular defects is clinically challenging due to the need for donor tissue of appropriate shape and volume to facilitate high fidelity repair. In order to generate large vascularized tissues of custom geometry, bioreactors were implanted against the rib periosteum of 3-4year-old sheep for nine weeks. Bioreactors were filled with either morcellized autologous bone, synthetic ceramic particles, or a combination thereof. Tissues generated within synthetic graft-filled bioreactors were transferred into a large right-sided mandibular angle defect as either avascular grafts (n=3) or vascularized free flaps (n=3)...
November 2016: Acta Biomaterialia
Terezie Pelikánová
UNLABELLED: Diabetic retinopathy (DR) develops in patients with both type 1 and type 2 diabetes and is the major cause of vision loss and blindness in the working population. The main risk factor of DR is hyperglycemia accompanied by enhanced mitochondrial production of reactive oxygen species and oxidative stress, formation of advanced glycation end products (AGE) and hexosamines, increase in polyol metabolism of glucose. The severity of vascular injury depends on the individual genetic background and is modified by other epigenetic, metabolic and haemodynamic factors, including hypertension, dyslipidemia and oxidative stress...
2016: Vnitr̆ní Lékar̆ství
Wolfgang Miesbach, Erik Berntorp
Von Willebrand disease (VWD) is the most common genetic bleeding disorder. VWD is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a plasma protein that mediates the initial adhesion of platelets at sites of vascular injury and binds and stabilises coagulation factor VIII (FVIII) in the blood. Prophylaxis of surgical bleeding in patients with VWD requires consideration of the individual situation, including the type of procedure and the bleeding rate, before decisions about treatment type, dose, duration and adjunctive therapy with antifibrinolytics or antithrombotic prophylaxis can be made...
September 13, 2016: European Journal of Haematology
Tatiana Kelil, Abhishek R Keraliya, Stephanie A Howard, Katherine M Krajewski, Marta Braschi-Amirfarzan, Jason L Hornick, Nikhil H Ramaiya, Sree Harsha Tirumani
Substantial improvement in the understanding of the oncogenic pathways in thyroid cancer has led to identification of specific molecular alterations, including mutations of BRAF and RET in papillary thyroid cancer, mutation of RAS and rearrangement of PPARG in follicular thyroid cancer, mutation of RET in medullary thyroid cancer, and mutations of TP53 and in the phosphatidylinositol 3'-kinase (PI3K)/AKT1 pathway in anaplastic thyroid cancer. Ultrasonography (US) and US-guided biopsy remain cornerstones in the initial workup of thyroid cancer...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Mario Teo, Jeremiah N Johnson, Teresa E Bell-Stephens, Michael P Marks, Huy M Do, Robert L Dodd, Michael B Bober, Gary K Steinberg
OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly...
September 9, 2016: Journal of Neurosurgery. Pediatrics
Marina Venero Galanternik, Amber N Stratman, Hyun Min Jung, Matthew G Butler, Brant M Weinstein
The lymphatic vasculature is comprised of a network of endothelial vessels found in close proximity to but separated from the blood vasculature. An essential tissue component of all vertebrates, lymphatics are responsible for the maintenance of fluid homeostasis, dissemination of immune cells, and lipid reabsorption under healthy conditions. When lymphatic vessels are impaired due to invasive surgery, genetic disorders, or parasitic infections, severe fluid build-up accumulates in the affected tissues causing a condition known as lymphedema...
November 2016: Wiley Interdisciplinary Reviews. Developmental Biology
A E Slagter, D Ryder, B Chakrabarty, A Lamarca, R A Hubner, W Mansoor, D A O'Reilly, P E Fulford, H J Klümpen, J W Valle, M G McNamara
AIM: Surgery is the only modality of cure in patients diagnosed with neuroendocrine tumours (NETs). The aim of this study was to identify prognostic factors associated with disease relapse in patients with NETs treated by potentially-curative surgery. METHODS: Sequential patients registered in The Christie European NET Society (ENETS) Centre of Excellence, with grade (G)1 or G2 NETs who had undergone curative surgery (February 2002-June 2014) were included. Investigated prognostic factors for relapse were: age, gender, TNM stage, tumour-localisation, functionality, genetic predisposition, presence of multiple NETs, second malignancy, grade (Ki-67-based), presence of vascular and/or perineural invasion, necrosis, surgical margin (R0/R1), Eastern Cooperative Oncology Group performance status and Adult Comorbidity Evaluation co-morbidity score...
September 2016: Surgical Oncology
P Konstantiniuk, A Grisold, G Schramayer, S C Santler, S Koter, T Cohnert
INTRODUCTION: In January 2014 an internal audit was performed at the department of surgery, division of vascular surgery of the Medical University Graz, Austria, to assess the short and long-term outcomes of prosthetic shunt graft implantations performed between December 1998 and December 2013. A 10.8 % explantation rate due to graft infection was detected. The majority of the cases were associated with Staphylococcus aureus. The aim of this study was to clarify whether this constitutes a nosocomial problem...
2016: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
Vladimir Pushevski, Petar Dejanov, Vesna Gerasimovska, Gordana Petrushevska, Angel Oncevski, Aleksandar Sikole, Zivko Popov, Ninoslav Ivanovski
BACKGROUND: Hemodialysis as an efficient therapy for advanced CKD is the most used treatment modality all over the world. Even though primary AVF is widely accepted as a best permanent vascular access in hemodialysis patients, up to 60% of all fistulas fail to mature. The pathogenesis of early fistula failure is not very well understood. Many general and local factors are involved: patient's age, sex, primary renal disease, small vessel's diameter, presence of accessory veins, prior venipunctures, surgical skill, genetics, etc...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Simona Neri, Serena Guidotti, Nicoletta Libera Lilli, Luca Cattini, Erminia Mariani
Different sources of mesenchymal stromal cells can be considered for regenerative medicine applications. Here we analyzed human adipose-derived stromal cells from infrapatellar fat pad (IFPSC) of osteoarthritis patients, representing a very interesting candidate for cartilage regeneration. No data are available concerning IFPSC stability after in vitro expansion. Indeed, replicative potential and multipotency progressively decrease during culture passages while DNA damage and cell senescence increase, thus possibly affecting clinical applications...
June 23, 2016: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
A C Vesseur, B M Verbist, H E Westerlaan, F J J Kloostra, R J C Admiraal, C M A van Ravenswaaij-Arts, R H Free, E A M Mylanus
To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were reviewed in consensus by two head-and-neck radiologists and two otological surgeons. Anatomical structures of the temporal bone were evaluated and correlated with genetic data. Abnormalities that might affect CI surgery were seen, such as a vascular structure, a petrosquamosal sinus (13 %), an underdeveloped mastoid (8 %) and an aberrant course of the facial nerve crossing the round window (9 %) and/or the promontory (18 %)...
June 20, 2016: European Archives of Oto-rhino-laryngology
Yudong Sun, Zhiqing Zhao, Lewei Hou, Yu Xiao, Feng Qin, Junyi Yan, Jian Zhou, Zaiping Jing
OBJECTIVE: The aim of this study was to determine the role of smooth muscle 22 (SM22) in aortic dissection (AD) vascular remodeling and its regulatory mechanism on vascular smooth muscle cell function. METHODS: Seven patients who underwent surgery for AD with no genetic predisposition and seven organ donors who died from nonvascular diseases were selected. In each aorta sample, the levels of SM22 were detected using immunohistochemistry and Western blot analysis...
June 17, 2016: Journal of Vascular Surgery
Juan Miguel Rodríguez-Roiz, José Ballesteros-Betancourt, Raquel García-Tarriño, Victor Antonio Rodríguez-Roiz, Manuel Llusa
Acute vascular injuries have been described in relation to high-energy trauma accidents or in patients undergoing surgery in the femoral area. We describe a healthy patient who sustained a direct, low-energy contusion in the thigh and presented haemodynamic instability. Arteriography was used to locate the point of bleeding, and embolisation and vessel occlusion were carried out to stop the haemorrhage. The genetic study identified the COL3A1 gene mutation; accordingly, the patient was diagnosed with the Ehlers-Danlos syndrome type IV (vascular type)...
2016: Case Reports in Orthopedics
A Gierlinger, P Siostrzonek, J Reisinger
This article presents two cases of young women with spontaneous life-threatening bleeding events. Both had a history of gastrointestinal rupture or arterial dissection. Based on their medical history and genetic testing, Ehlers-Danlos syndrome (EDS) IV (vascular type) was diagnosed. In this very rare disorder which accounts for only 5 % of all EDS cases, fibroblasts synthesize reduced and abnormal procollagen type III. This is caused by mutations in the COL3A1 gene coding for type III procollagen. Life expectancy in these patients is significantly reduced...
June 2016: Medizinische Klinik, Intensivmedizin und Notfallmedizin
Jehangir J Appoo, John Bozinovski, Michael W A Chu, Ismail El-Hamamsy, Thomas L Forbes, Michael Moon, Maral Ouzounian, Mark D Peterson, Jacques Tittley, Munir Boodhwani
In 2014, the Canadian Cardiovascular Society (CCS) published a position statement on the management of thoracic aortic disease addressing size thresholds for surgery, imaging modalities, medical therapy, and genetics. It did not address issues related to surgical intervention. This joint Position Statement on behalf of the CCS, Canadian Society of Cardiac Surgeons, and the Canadian Society for Vascular Surgery provides recommendations about thoracic aortic disease interventions, including: aortic valve repair, perfusion strategies for arch repair, extended arch hybrid reconstruction for acute type A dissection, endovascular management of arch and descending aortic aneurysms, and type B dissection...
June 2016: Canadian Journal of Cardiology
Federica Guaraldi, Ioannis Karamouzis, Rita Berardelli, Valentina D'Angelo, Alessia Rampino, Clizia Zichi, Ezio Ghigo, Roberta Giordano
Adrenal failure secondary to hypothalamic-pituitary disease is a common although underestimated and underdiagnosed condition, with serious consequences. Corticotropin deficiency can be isolated or more frequently occur in association with other pituitary hormones deficiencies. The most frequent endogenous cause of secondary adrenal insufficiency (SAI) is a tumor of the hypothalamic-pituitary region, usually associated with panhypopituitarism secondary to tumor growth or to its treatment with surgery or irradiation...
2016: Frontiers of Hormone Research
Neharika Sharma, Stephen O'Hagan, Gael Phillips
BACKGROUND: Conjunctival myxomas are rare, benign, connective tissue tumours that classically present as slow-growing, painless, well-circumscribed masses (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012). There have been 29 cases reported in the literature (Arch Ophthalmol 124:735-8, 2006; Malays J Med Sci 20(1):92-4, 2013; Case Rep Ophthalmol 3:145-50, 2012; Middle East Afr J Ophthalmol 19(3):353-3, 2012). We present a case with atypical features, and emphasize the importance of excisional biopsies for diagnosing indeterminate conjunctival lesions...
2016: BMC Ophthalmology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"