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https://www.readbyqxmd.com/read/28716646/pulmonary-infarction-in-the-beginning
#1
Peter B Terry, Philip Clay Buescher
BACKGROUND: Massive pulmonary emboli can cause abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of pulmonary infarction symptoms is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. METHODS: We examined the records of fifty six patients with Hereditary Hemorrhagic Telangiectasia (HHT) undergoing therapeutic balloon embolization of pulmonary arteriovenous malformations (PAVM's) in a single center after noting that some developed symptoms and signs compatible with pulmonary infarction...
July 14, 2017: Chest
https://www.readbyqxmd.com/read/28687708/germline-loss-of-function-mutations-in-ephb4-cause-a-second-form-of-capillary-malformation-arteriovenous-malformation-cm-avm2-deregulating-ras-mapk-signaling
#2
Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R Cordisco, Wendy K Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E Pyeritz, David J Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G Brooks, Juliette Dupont, Maria A González-Enseñat, Ilona J Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B Mulliken, Laurence M Boon, Miikka Vikkula
Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Methods -We conducted a genome-wide linkage study on a CM-AVM family. Whole exome sequencing was also performed on 9 unrelated CM-AVM families...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28671294/osteonecrosis-after-intranasal-injection-with-bevacizumab-in-treating-hereditary-hemorrhagic-telangiectasia-a-case-report
#3
Johan Steineger, Else Merckoll, John Magnar Slåstad, Erik Fink Eriksen, Ketil Heimdal, Sinan Dheyauldeen
Intranasal bevacizumab injections have been used in treating hereditary hemorrhagic telangiectasia (HHT)-related epistaxis since 2009. It is believed to be a safe and effective treatment for a selected group of HHT patients in reducing frequency and intensity of epistaxis, with few or none adverse effects. In this case report, however, we will describe a patient who developed bilateral osteonecrosis in the knees while undergoing regular intranasal submucosal bevacizumab injections. Although osteonecrosis previously has been documented in patients receiving bevacizumab intravenously in oncologic doses, thus far it has not been reported in patients treated with intranasal submucosal injections...
July 3, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28659238/hwangryunhaedoktang-exerts-anti-inflammation-on-lps-induced-no-production-by-suppressing-mapk-and-nf-%C3%AE%C2%BAb-activation-in-raw264-7-macrophages
#4
Byung Hyuk Han, Yun Jung Lee, Jung Joo Yoon, Eun Sik Choi, Seung Namgung, Xian Jun Jin, Da Hye Jeong, Dae Gill Kang, Ho Sub Lee
OBJECTIVE: This study aimed to evaluate whether Hwangryunhaedoktang (HHT), a herbal compound, has an inhibitory effect on lipopolysaccharide (LPS)-induced inflammation in RAW264.7 macrophages. METHODS: The effects of HHT were evaluated by confirming nitric oxide (NO) production and expression of inducible NO synthase (iNOS) and mitogen-activated protein kinases (MAPKs) in LPS-stimulated RAW264.7 macrophages via the Griess assay, Western blotting, and real-time reverse transcription quantitative polymerase chain reaction...
July 2017: Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28652319/nintedanib-as-a-novel-treatment-option-in-hereditary-haemorrhagic-telangiectasia
#5
Evelin Kovacs-Sipos, David Holzmann, Thomas Scherer, Michael B Soyka
A 70-year-old patient with known hereditary haemorrhagictelangiectasia (HHT) was seen regularly in our outpatient clinic. He underwent multiple therapeutical interventions, including both surgical and medical, for the treatment of recurrent epistaxis without sustained success. Due to a concurrent diagnosis of idiopathic pulmonary fibrosis, treatment with the tyrosine kinase inhibitor nintedanib was initiated, after which point the patient reported a dramatic and unanticipated improvement in his epistaxis and skin telangiectasia...
June 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28640642/epidemiological-characteristics-of-hyperhomocysteinemia-and-h-type-hypertension-in-the-elderly-in-beijing-china
#6
Lina Ma, Li Li, Zhe Tang
Hyperhomocysteinemia (HHcy) is an important risk factor for atherosclerosis-related diseases, and H-type hypertension (HHT) is becoming a major health-care concern in China. We assessed the prevalence of HHcy and HHT in the elderly in a retrospective study based on data obtained from the Beijing Longitudinal Study of Aging. This cross-sectional study comprised 1460 people in the general population (638 males and 822 females) aged ≥60 years dwelling in an urban district, a suburb, and an outer suburb of Beijing in 2012...
June 22, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28638289/diagnosis-and-treatment-of-hereditary-hemorrhagic-telangiectasia
#7
REVIEW
Cameron Grigg, Daniel Anderson, James Earnshaw
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT. METHODS: We searched MEDLINE, EMBASE, and PubMed and identified 19 articles published since 2000 with current information on HHT. RESULTS: HHT is a disease more commonly associated with significant morbidity rather than mortality...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#8
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28626375/intravenous-bevacizumab-therapy-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-eng-e137k-alcoholic-cirrhosis-and-portal-hypertension
#9
Luigi F Bertoli, Pauline L Lee, Lauren Lallone, James C Barton
Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1-33 (no bevacizumab); 34-57 (bevacizumab); and 58-97 (no bevacizumab): hemoglobin (Hb) levels; platelet counts; units of transfused packed erythrocytes (PRBC units); and quantities of iron infused as iron dextran to support erythropoiesis...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28619257/withdrawn-the-role-of-capsule-endoscopy-and-device-assisted-enteroscopy-for-small-bowel-lesions-in-hereditary-hemorrhagic-telangiectasia
#10
Rossella Cianci, Riccardo Urgesi, Annalisa Tortora, Arianna Amato, Estelle E Newton, Guido Costamagna, Maria Elena Riccioni
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
May 25, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28615135/combined-therapy-for-epistaxis-by-hereditary-hemorrhagic-teleangiectasia-a-3-year-follow-up-study-on-45-patients
#11
Giorgos Papaspyrou, Dietmar Hecker, Maximilian Linxweiler, Bernhard Schick, Basel Al Kadah
Hereditary hemorrhagic telangiectasia (HHT) is a mutilating disease associated with the majority of patients with recurrent epistaxis episodes. The aim of this study was to present a single institution experience with patients treated for nasal epistaxis using a combination of Nd:YAG laser and argon plasma coagulation (APC) vs Nd:YAG laser alone, with a minimum follow-up of 3 years. 45 patients (21 men, 24 women) aged from 15 to 84 years with the diagnosis of HHT were treated in the Department of Otolaryngology, Head and Neck Surgery in Homburg/Saar between 10/2002 and 10/2012 because of epistaxis, using a combination of Nd:YAG laser and APC or Nd:YAG laser alone...
May 24, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28608633/asymptomatic-pulmonary-arteriovenous-malformations-in-children-with-hereditary-hemorrhagic-telangiectasia
#12
Ashley M Gefen, Andrew J White
BACKGROUND: Children with Hereditary Hemorrhagic Telangiectasia (HHT) may have pulmonary arteriovenous malformations (AVMs), which can lead to symptoms of shortness of breath, exercise intolerance, clubbing, cyanosis and hemoptysis. However, some patients with pulmonary AVMs may be asymptomatic, placing them at risk for complications such as stroke or brain abscess if they are not identified and treated. This study examines the incidence of signs and symptoms associated with pulmonary AVMs in children with HHT known to have pulmonary AVMs...
June 13, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28603431/hereditary-hemorrhagic-telangiectasia-and-pregnancy-potential-adverse-events-and-pregnancy-outcomes
#13
REVIEW
Omar Bari, Philip R Cohen
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28592738/a-case-of-hereditary-hemorrhagic-telangiectasia-with-hepatic-encephalopathy-due-to-portal-hepatic-venous-shunt
#14
Kazumasa Ono, Toshimasa Obara, Miki Takeshita, Shinichiro Inoue, Shinjirou Mizukawa, Hiroshi Hasegawa, Koichi Kozaki
An 86-year-old male who was able to perform all activities of daily living (ADL) was diagnosed with hereditary hemorrhagic telangiectasia (HHT) at 70 years of age. Following his diagnosis, he had been receiving treatment at our hospital. After the sudden onset of a consciousness disorder, he was admitted to our hospital's emergency department with asterixis, a high serum ammonia level, and hepatic encephalopathy. After angiography, he was diagnosed with hepatic encephalopathy due to portal hepatic venous shunts...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28588815/familial-cerebral-abscesses-caused-by-hereditary-hemorrhagic-telangiectasia
#15
Pernille Mathiesen Tørring, Mathilde Faurholdt Lauridsen, Christine I Dali, Poul Erik Andersen, Lillian Bomme Ousager, Klaus Brusgaard, Anette Kjeldsen
In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case shows the benefit of familial screening for HHT and PAVM.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28578477/prevalence-of-hereditary-hemorrhagic-telangiectasia-in-patients-operated-for-cerebral-abscess-a-retrospective-cohort-analysis
#16
L Larsen, C R Marker, A D Kjeldsen, F R Poulsen
It is well described that patients with pulmonary arteriovenous malformations (PAVMs) and Hereditary Hemorrhagic Telangiectasia (HHT) have an increased risk of cerebral abscess (CA). However, as both CA and HHT are rare, the proportion of patients with CA who are diagnosed with HHT has not been previously described. A retrospective study was carried out of all patients treated surgically for CA between January 1995 and September 2014 at the Department of Neurosurgery, Odense University Hospital. The cases were then cross-referenced with the Danish HHT database...
June 3, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28572762/evaluating-and-improving-automatic-sleep-spindle-detection-by-using-multi-objective-evolutionary-algorithms
#17
Min-Yin Liu, Adam Huang, Norden E Huang
Sleep spindles are brief bursts of brain activity in the sigma frequency range (11-16 Hz) measured by electroencephalography (EEG) mostly during non-rapid eye movement (NREM) stage 2 sleep. These oscillations are of great biological and clinical interests because they potentially play an important role in identifying and characterizing the processes of various neurological disorders. Conventionally, sleep spindles are identified by expert sleep clinicians via visual inspection of EEG signals. The process is laborious and the results are inconsistent among different experts...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28549781/nucleostemin-dysregulation-contributes-to-ischemic-vulnerability-of-diabetic-hearts-role-of-ribosomal-biogenesis
#18
Shihao Zhao, Yunlong Xia, Fuyang Zhang, Zhenyu Xiong, Yueyang Li, Wenjun Yan, Xiyao Chen, Wei Wang, Helin Wang, Erhe Gao, Yan Lee, Congye Li, Shan Wang, Ling Zhang, Ling Tao
Diabetes is a major health problem worldwide. As well-known, diabetes greatly increases cardiac vulnerability to ischemia/reperfusion (I/R) injury, but the underlying mechanisms remain elusive. Nucleostemin (NS) is a nucleolar protein that controls ribosomal biogenesis and exerts cardioprotective effects against I/R injury. However, whether NS-mediated ribosomal biogenesis regulates ischemic vulnerability of diabetic hearts remains unanswered. Utilizing myocardial I/R mouse models, we found that cardiac NS expression significantly increased in response to I/R in normal diet (ND)-fed mice...
May 23, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28524787/cerebral-hemorrhage-in-monozygotic-twins-with-hereditary-hemorrhagic-telangiectasia-case-report-and-hemorrhagic-risk-evaluation
#19
Abbas Rattani, Michael C Dewan, Vickie Hannig, Robert P Naftel, John C Wellons, Lori C Jordan
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#20
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
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