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https://www.readbyqxmd.com/read/29243366/eng-mutational-mosaicism-in-a-family-with-hereditary-hemorrhagic-telangiectasia
#1
Pernille M Tørring, Anette D Kjeldsen, Lilian Bomme Ousager, Klaus Brusgaard
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100. METHODS: DNA was extracted from peripheral blood leukocytes, and buccal swabs...
December 14, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29217066/hereditary-hemorrhagic-telangiectasia
#2
REVIEW
Thomas Kühnel, Kornelia Wirsching, Walter Wohlgemuth, Ajay Chavan, Katja Evert, Veronika Vielsmeier
Hereditary hemorrhagic telangiectasia (HHT) describes the presenting manifestations of a disorder that is characterized by pathologic blood vessels. HHT is inherited as an autosomal dominant trait with variable penetrance. The abnormal vascular structures (dysplasias) can affect all the organs in the human body. The link between a physical stimulus and new lesion development has been established for mucosal trauma owing to nasal airflow turbulence, for ultraviolet exposure to the fingers, and for mechanical trauma to the dominant hand...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29210083/a-novel-association-between-high-red-blood-cell-alloimmunization-rates-and-hereditary-hemorrhagic-telangiectasia
#3
Yan Zheng, Jeffrey Pollak, Katharine Henderson, Jeanne E Hendrickson, Christopher A Tormey
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder associated with multiple arteriovenous malformations. HHT patients may require red blood cell (RBC) transfusion due to spontaneous hemorrhage or surgical bleeding. Because HHT-associated hemorrhage often occurs in submucosa we hypothesized that RBC alloimmunization rates in HHT patients may be higher than those observed in other transfused patients and investigated this in a retrospective study. STUDY DESIGN AND METHODS: Eighty-five patients with HHT who were transfused at our tertiary care facility were identified...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29190827/intra-venous-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-hht-a-retrospective-study-of-46-patients
#4
Alexandre Guilhem, Anne-Emmanuelle Fargeton, Anne-Claire Simon, Pierre Duffau, Jean-Robert Harle, Christian Lavigne, Marie-France Carette, Olivier Bletry, Pierre Kaminsky, Vanessa Leguy, Nathalie Lerolle, Dominique Roux, Marc Lambert, Thierry Chinet, Delphine Bonnet, Sophie Dupuis-Girod, Sophie Rivière
BACKGROUND: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France...
2017: PloS One
https://www.readbyqxmd.com/read/29185147/predicting-pituitary-stalk-position-by-in-vivo-visualization-of-the-hypothalamo-hypophyseal-tract-in-craniopharyngioma-using-diffusion-tensor-imaging-tractography
#5
Fuyu Wang, Jinli Jiang, Jiashu Zhang, Qun Wang
The pituitary stalk (PS) is crucial to endocrine function and water-electrolyte equilibrium. Preservation of the PS during craniopharyngioma (CP) surgery is critical; however, in a pathological state, it is difficult to identify. The hypothalamo-hypophyseal tract (HHT) connects the hypothalamus and the posterior pituitary gland and projects through the PS. Thus, visualization of the HHT can help locate the PS. Preoperative visualization of the neural fasciculus has been widely achieved using diffusion tensor imaging (DTI) tractography...
November 28, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29171923/clinical-and-genetic-findings-in-children-with-cns-arteriovenous-fistulas
#6
Guillaume Saliou, Mélanie Eyries, Marta Iacobucci, Jean François Knebel, Marie-Christine Waill, Florence Coulet, Augustin Ozanne, Florent Soubrier
OBJECTIVE: To assess the spectrum of genetic anomalies in a cohort of children presenting at least one cerebral or spinal pial arteriovenous fistula (AVF), and to describe their clinical characteristics. METHODS: From 1988 to 2016, all consecutive patients with at least one cerebral or spinal pial AVF were screened for genetic disease. All patients under the age of 18 years were included. Symptoms associated with AVF were recorded: heart failure, neurologic deficit/seizure, hemorrhage...
November 24, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29171658/epistaxis-in-children-and-adolescents-with-hereditary-hemorrhagic-telangiectasia
#7
Cristian D Gonzalez, Jamie Mcdonald, David A Stevenson, Kevin J Whitehead, Matthew G Petersen, Angela P Presson, Qian Ding, Kevin F Wilson
OBJECTIVES/HYPOTHESIS: Our objective was to describe epistaxis onset and severity in pediatric hereditary hemorrhagic telangiectasia (HHT) patients and study the cumulative incidence of epistaxis by age of onset within each genetic subtype. STUDY DESIGN: Retrospective cohort chart review. METHODS: Charts were reviewed of patients age 0 to 18 years with a clinical or genetic diagnosis of HHT who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016...
November 24, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29166422/intranasal-bevacizumab-in-the-treatment-of-hht-related-epistaxis-a-systematic-review
#8
P Stokes, J Rimmer
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) remains a difficult disease for the ENT specialist to manage. Affected patients often report recurrent epistaxis as the most debilitating symptom. The pathogenesis of the disease is due to genetic mutations affecting angiogenesis. For this reason, the anti-angiogenic therapy bevacizumab has gained popularity in the local treatment of epistaxis in patients with HHT. OBJECTIVE: A systematic review of the efficacy of bevacizumab in local treatment of epistaxis in patients with HHT based on epistaxis duration, frequency, severity and impact on quality of life...
November 22, 2017: Rhinology
https://www.readbyqxmd.com/read/29159709/12th-international-hht-scientific-conference-june-8-11-2017-dubrovnik-croatia
#9
(no author information available yet)
No abstract text is available yet for this article.
November 20, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29147802/executive-summary-of-the-12th-hht-international-scientific-conference
#10
Jillian W Andrejecsk, Anna E Hosman, Luisa M Botella, Claire L Shovlin, Helen M Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C W Hughes, Franck Lebrin, Christine L Mummery, Marco C Post, Johannes J Mager
Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations...
November 16, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29141890/british-thoracic-society-clinical-statement-on-pulmonary-arteriovenous-malformations
#11
Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort
Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals...
December 2017: Thorax
https://www.readbyqxmd.com/read/29136819/alteration-in-the-liver-metabolome-of-rats-with-metabolic-syndrome-after-treatment-with-hydroxytyrosol-a-mass-spectrometry-and-nuclear-magnetic-resonance-based-metabolomics-study
#12
Ioanna Dagla, Dimitra Benaki, Eirini Baira, Nikolaos Lemonakis, Hemant Poudyal, Lindsay Brown, Anthony Tsarbopoulos, Alexios-Leandros Skaltsounis, Emmanouel Mikros, Evagelos Gikas
Metabolic syndrome (MetS) represents a group of abnormalities that enhances the risk for cardiovascular disease, diabetes and stroke. The Mediterranean diet seems to be an important dietary pattern, which reduces the incidence of MetS. Hydroxytyrosol (HT) - a simple phenol found in olive oil - has received increased attention for its antioxidant activity. Recently, the European Foods Safety Authority (EFSA) claimed that dietary consumption of HT exhibits a protective role against cardiovascular disease. In this study, an experimental protocol has been setup, including isolated HT administration in a diet induced model of MetS in young Wistar rats, in order to find out whether HT has a protective effect against MetS...
February 1, 2018: Talanta
https://www.readbyqxmd.com/read/29128973/relevant-features-selection-for-automatic-prediction-of-preterm-deliveries-from-pregnancy-electrohysterograhic-ehg-records
#13
Nafissa Sadi-Ahmed, Baya Kacha, Hamza Taleb, Malika Kedir-Talha
In this study, we proposed an approach able to predict whether a pregnant woman with contractions would give birth earlier than expected (i.e., before the 37 (t h) week of gestation (WG)). It only processes non-invasive electrohysterographic (EHG) signals fully automatically without assistance of an expert or an additional medical system. We used term and preterm EHG signals of 30-minutes duration collected between the 27 (t h) and the 32 (n d) WG. Preterm deliveries (< 37W G) had occurred in average 4...
November 11, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29048420/characterization-of-pulmonary-arteriovenous-malformations-in-acvrl1-versus-eng-mutation-carriers-in-hereditary-hemorrhagic-telangiectasia
#14
Weiyi Mu, Zachary A Cordner, Kevin Yuqi Wang, Kate Reed, Gina Robinson, Sally Mitchell, Doris Lin
PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups.MethodsSixty-six patients with HHT and affected family members were included. Genotype, phenotypic data, and imaging were obtained from medical records...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29042026/identification-signaling-and-functions-of-ltb4-receptors
#15
REVIEW
Kazuko Saeki, Takehiko Yokomizo
Leukotriene B4 (LTB4), a lipid mediator produced from arachidonic acid, is a chemoattractant for inflammatory leukocytes. We identified two receptors for LTB4, the high-affinity receptor BLT1 and the low-affinity receptor BLT2. BLT1 is expressed in various subsets of leukocytes, and analyses of BLT1-deficient mice revealed that the LTB4/BLT1 axis enhances leukocyte recruitment to infected sites, and is involved in the elimination of pathogens. Hyperactivation of the LTB4/BLT1 axis induces acute and chronic inflammation, resulting in various inflammatory diseases...
October 2017: Seminars in Immunology
https://www.readbyqxmd.com/read/29038497/non-steroidal-anti-inflammatory-drug-delays-corneal-wound-healing-by-reducing-production-of-12-hydroxyheptadecatrienoic-acid-a-ligand-for-leukotriene-b4-receptor-2
#16
Satoshi Iwamoto, Tomoaki Koga, Mai Ohba, Toshiaki Okuno, Masato Koike, Akira Murakami, Akira Matsuda, Takehiko Yokomizo
Non-steroidal anti-inflammatory drugs (NSAIDs) are widely used to reduce inflammation by suppressing cyclooxygenases (COXs). NSAID eye drops are frequently prescribed after ocular surgery to reduce inflammation and pain, but this treatment has clinically significant side effects, including corneal ulcer and perforation. The molecular mechanisms underlying these side effects remain unknown. Recently, the COX product 12(S)-hydroxyheptadeca-5Z,8E,10E-trienoic acid (12-HHT) was identified as an endogenous ligand for leukotriene B4 receptor 2 (BLT2), which is important in maintenance of epithelial homeostasis...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29032044/multiplex-quantitative-analysis-of-eicosanoid-mediators-in-human-plasma-and-serum-possible-introduction-into-clinical-testing
#17
Atsushi Yasumoto, Suzumi M Tokuoka, Yoshihiro Kita, Takao Shimizu, Yutaka Yatomi
Eicosanoid mediators play important roles in maintaining the physiological and pathophysiological homeostasis in the body. Their measurements, however, are rarely performed in clinical practice. In the present study, we analyzed 30 varieties of eicosanoid mediators that were detectable in human plasma and serum collected from healthy donors, using liquid chromatography-tandem mass spectrometry from the viewpoint of the clinical application of the multiplex quantitation of eicosanoid mediators. Wider variety of eicosanoid mediators were detected in serum (27 out of 30) than in plasma (14 out of 30), since the serum was thought to contain lipid mediators released from activated platelets...
October 9, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29018941/pulmonary-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia-correlations-between-computed-tomography-findings-and-cerebral-complications
#18
Johan Etievant, Salim Si-Mohamed, Nicolas Vinurel, Sophie Dupuis-Girod, Evelyne Decullier, Delphine Gamondes, Chahera Khouatra, Vincent Cottin, Didier Revel
OBJECTIVES: Computed tomography (CT) is the modality of choice to characterise pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). Our objective was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. METHODS: This retrospective study included patients with HHT-related PAVMs. CT results, i.e. PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess...
October 10, 2017: European Radiology
https://www.readbyqxmd.com/read/28989145/-clinical-and-genetic-diagnosis-in-a-hereditary-hemorrhagic-telangiectasia-family
#19
Yan Yi, Xiaofeng Liu, Boda Wu, Jun Liu, Shenglei Ge, Xiaoliu Shi
To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family, and to explore the application of gene mutation testing in HHT diagnosis.
 Methods: Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria. Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology...
September 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28981519/pulmonary-hypertension-subtypes-associated-with-hereditary-haemorrhagic-telangiectasia-haemodynamic-profiles-and-survival-probability
#20
Sabine Revuz, Evelyne Decullier, Isabelle Ginon, Nicolas Lamblin, Pierre-Yves Hatron, Pierre Kaminsky, Marie-France Carette, Pascal Lacombe, Anne-Claire Simon, Sophie Rivière, Jean-Robert Harlé, Alain Fraisse, Christian Lavigne, Vanessa Leguy-Seguin, Ari Chaouat, Chahera Khouatra, Sophie Dupuis-Girod, Eric Hachulla
BACKGROUND: Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT). METHODS AND RESULTS: We conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines...
2017: PloS One
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