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Wyszukujesz frazę ""Telangiectasia, Hereditary Hemorrhagic"" wg kryterium: Temat


Tytuł :
Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Autorzy :
Dunphy L; Department of Acute Medicine, The Royal Berkshire Hospital, Reading, UK .
Talwar A; Department of Acute Medicine, The Royal Berkshire Hospital, Reading, UK.
Patel N; Department of Acute Medicine, The Royal Berkshire Hospital, Reading, UK.
Evans A; Department of Acute Medicine, The Royal Berkshire Hospital, Reading, UK.
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Źródło :
BMJ case reports [BMJ Case Rep] 2021 Jan 08; Vol. 14 (1). Date of Electronic Publication: 2021 Jan 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arteriovenous Malformations/*diagnosis
Dyspnea/*physiopathology
Epistaxis/*physiopathology
Hypoxia/*physiopathology
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Activin Receptors, Type II/genetics ; Adult ; Antithyroid Agents/therapeutic use ; Arteriovenous Malformations/physiopathology ; Blood Gas Analysis ; COVID-19/diagnosis ; Carbimazole/therapeutic use ; Diagnosis, Differential ; Female ; Graves Disease/complications ; Graves Disease/drug therapy ; Humans ; Migraine Disorders/complications ; Pulmonary Artery/abnormalities ; Pulmonary Artery/diagnostic imaging ; Pulmonary Veins/abnormalities ; Pulmonary Veins/diagnostic imaging ; SARS-CoV-2 ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/physiopathology ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.
Autorzy :
Chang W; General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia .
Renaut P; Pathology, Queensland Pathology, Herston, Queensland, Australia.
Pretorius C; General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia.; James Cook University School of Medicine, Douglas, Queensland, Australia.
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Dec 22; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Iron-Deficiency/*diagnosis
Gastritis/*diagnosis
Intestinal Polyposis/*congenital
Intestinal Polyps/*diagnosis
Neoplastic Syndromes, Hereditary/*diagnosis
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Adult ; Age of Onset ; Anemia, Iron-Deficiency/blood ; Anemia, Iron-Deficiency/drug therapy ; Anemia, Iron-Deficiency/genetics ; Colon/diagnostic imaging ; Colon/pathology ; Endoscopy, Gastrointestinal ; Gastrectomy ; Gastric Mucosa/diagnostic imaging ; Gastric Mucosa/microbiology ; Gastric Mucosa/pathology ; Gastritis/microbiology ; Gastritis/pathology ; Gastritis/surgery ; Helicobacter heilmannii/isolation & purification ; Hematinics/administration & dosage ; Humans ; Hyperplasia ; Intestinal Mucosa/diagnostic imaging ; Intestinal Mucosa/pathology ; Intestinal Polyposis/complications ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyps/genetics ; Male ; Mutation ; Neoplastic Syndromes, Hereditary/complications ; Neoplastic Syndromes, Hereditary/genetics ; Severity of Illness Index ; Smad4 Protein/genetics ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Tomography, X-Ray Computed
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Autorzy :
Faughnan ME; St. Michael's Hospital, Li Ka Shing Knowledge Institute, and University of Toronto, Toronto, Ontario, Canada (M.E.F.).
Mager JJ; St. Antonius Hospital, Nieuwegein, the Netherlands (J.J.M.).
Hetts SW; University of California, San Francisco, San Francisco, California (S.W.H., M.C.).
Palda VA; University of Toronto, Toronto, Ontario, Canada (V.A.P.).
Lang-Robertson K; Centre for Effective Practice, Toronto, Ontario, Canada (K.L.).
Buscarini E; HHT Reference Center ERN, Ospedale Maggiore, ASST Crema, Crema, Italy (E.B.).
Deslandres E; Centre Hospitalier de l'Université de Montréal, Hôtel-Dieu, Montreal, Quebec, Canada (E.D.).
Kasthuri RS; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina (R.S.K., J.D.).
Lausman A; St. Michael's Hospital and University of Toronto, Toronto, Ontario, Canada (A.L., R.P.).
Poetker D; Froedtert and Medical College of Wisconsin, Milwaukee, Wisconsin (D.P., P.F.).
Ratjen F; The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada (F.R.).
Chesnutt MS; VA Portland Health Care System and Oregon Health & Science University, Portland, Oregon (M.S.C.).
Clancy M; Cure HHT, Monkton, Maryland (M.C., S.O.).
Whitehead KJ; University of Utah Medical Center, Salt Lake City, Utah (K.J.W., J.M.).
Al-Samkari H; Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts (H.A.).
Chakinala M; Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
Conrad M; University of California, San Francisco, San Francisco, California (S.W.H., M.C.).
Cortes D; St. Michael's Hospital and Unity Health Toronto, Toronto, Canada (D.C.).
Crocione C; HHT Europe, Rome, Italy (C.C.).
Darling J; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina (R.S.K., J.D.).
de Gussem E; Grace Hospital, Winnipeg, Manitoba, Canada (E.D.).
Derksen C; HHT Canada, Spruce Grove, Alberta, Canada (C.D.).
Dupuis-Girod S; Hospices Civils de Lyon, Femme-Mère-Enfant, Lyon, France (S.D.).
Foy P; Froedtert and Medical College of Wisconsin, Milwaukee, Wisconsin (D.P., P.F.).
Geisthoff U; University Hospital of Marburg and Phillips University Marburg, Marburg, Germany (U.G.).
Gossage JR; Augusta University, Augusta, Georgia (J.R.G.).
Hammill A; Cincinnati Children's Hospital and University of Cincinnati, Cincinnati, Ohio (A.H.).
Heimdal K; Oslo University Hospital, Rikshospitalet, Oslo, Norway (K.H.).
Henderson K; Yale University School of Medicine, New Haven, Connecticut (K.H.).
Iyer VN; Mayo Clinic, Rochester, Minnesota (V.N.I.).
Kjeldsen AD; Odense University Hospital, Odense, Denmark (A.D.K.).
Komiyama M; Osaka City General Hospital, Osaka, Japan (M.K.).
Korenblatt K; Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
McDonald J; University of Utah Medical Center, Salt Lake City, Utah (K.J.W., J.M.).
McMahon J; Chester, New Jersey (J.M.).
McWilliams J; University of California, Los Angeles, Los Angeles, California (J.M.).
Meek ME; University of Arkansas for Medical Sciences, Little Rock, Arkansas (M.E.M.).
Mei-Zahav M; Schneider Children's Medical Center of Israel and Sackler School of Medicine of Tel Aviv University, Tel Aviv, Israel (M.M.).
Olitsky S; Cure HHT, Monkton, Maryland (M.C., S.O.).
Palmer S; Baltimore, Maryland (S.P.).
Pantalone R; St. Michael's Hospital and University of Toronto, Toronto, Ontario, Canada (A.L., R.P.).
Piccirillo JF; Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
Plahn B; Sioux Falls, South Dakota (B.P.).
Porteous MEM; University of Edinburgh, Edinburgh, Scotland (M.E.P.).
Post MC; St. Antonius Hospital, Nieuwegein, and University Medical Center Utrecht, Utrecht, the Netherlands (M.C.P.).
Radovanovic I; Toronto Western Hospital and University of Toronto, Toronto, Ontario, Canada (I.R.).
Rochon PJ; University of Colorado Hospital, Aurora, Colorado (P.J.R.).
Rodriguez-Lopez J; Massachusetts General Hospital, Boston, Massachusetts (J.R.).
Sabba C; University of Bari, Bari, Italy (C.S.).
Serra M; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina (M.S.).
Shovlin C; Hammersmith Hospital, London, England (C.S.).
Sprecher D; Blue Bell, Pennsylvania (D.S.).
White AJ; Washington University School of Medicine, St. Louis, Missouri (M.C., K.K., J.F.P., A.J.W.).
Winship I; Royal Melbourne Hospital and University of Melbourne, Melbourne, Victoria, Australia (I.W.).
Zarrabeitia R; Hospital Sierrallana (Servicio Cántabro de Salud), Torrelavega, Spain (R.Z.).
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Źródło :
Annals of internal medicine [Ann Intern Med] 2020 Dec 15; Vol. 173 (12), pp. 989-1001. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Journal Article; Practice Guideline
MeSH Terms :
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Telangiectasia, Hereditary Hemorrhagic/*therapy
Anemia/etiology ; Anemia/therapy ; Arteriovenous Malformations/etiology ; Arteriovenous Malformations/therapy ; Child ; Epistaxis/etiology ; Epistaxis/therapy ; Gastrointestinal Hemorrhage/etiology ; Gastrointestinal Hemorrhage/therapy ; Genetic Diseases, Inborn/etiology ; Genetic Diseases, Inborn/therapy ; Humans ; Liver/blood supply ; Telangiectasia, Hereditary Hemorrhagic/complications
SCR Disease Name :
Epistaxis, Hereditary
Czasopismo naukowe
Tytuł :
[Brain abscess and Osler-Weber-Rendu syndrome: Do not forget to look for pulmonary arteriovenous malformations].
Autorzy :
Aubignat M; Service de neurologie, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France. Electronic address: .
Salomon A; Unité de réanimation neurochirurgicale, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Chivot C; Service de radiologie, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Delanghe F; Unité de réanimation neurochirurgicale, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Lecat B; Unité de réanimation neurochirurgicale, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Jeanjean P; Unité de réanimation neurochirurgicale, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
Peltier J; Service de neurochirurgie, CHU Amiens-Picardie, 1 Rue du Professeur Christian Cabrol, 80054 Amiens, France.
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Transliterated Title :
Abcès cérébral et maladie de Rendu-Osler-Weber : pensez à rechercher des malformations artério-veineuses pulmonaires.
Źródło :
La Revue de medecine interne [Rev Med Interne] 2020 Nov; Vol. 41 (11), pp. 776-779. Date of Electronic Publication: 2020 Jul 25.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arteriovenous Fistula/*diagnosis
Arteriovenous Malformations/*diagnosis
Brain Abscess/*diagnosis
Pulmonary Artery/*abnormalities
Pulmonary Veins/*abnormalities
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Aged ; Anti-Bacterial Agents/therapeutic use ; Arteriovenous Fistula/etiology ; Arteriovenous Fistula/therapy ; Arteriovenous Malformations/etiology ; Arteriovenous Malformations/therapy ; Brain Abscess/etiology ; Brain Abscess/therapy ; Embolization, Therapeutic ; Female ; Humans ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/therapy
SCR Disease Name :
Pulmonary Arteriovenous Fistulas
Czasopismo naukowe
Tytuł :
[Diagnostic Criteria and Treatment of Hereditary Hemorrhagic Telangiectasia].
Autorzy :
Seebauer CT; HNO-Klinik, Universitätsklinik Regensburg, Germany.
Kuehnel T; HNO-Klinik, Universitätsklinik Regensburg, Germany.
Uller W; Institut für Röntgendiagnostik, Universitätsklinik Regensburg, Germany.
Bohr C; HNO-Klinik, Universitätsklinik Regensburg, Germany.
Andorfer KE; HNO-Klinik, Universitätsklinik Regensburg, Germany.
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Transliterated Title :
Diagnostik und Behandlung der hereditären hämorrhagischen Teleangiektasie.
Źródło :
Laryngo- rhino- otologie [Laryngorhinootologie] 2020 Oct; Vol. 99 (10), pp. 682-693. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :
Journal Article
MeSH Terms :
Telangiectasia, Hereditary Hemorrhagic*/diagnosis
Telangiectasia, Hereditary Hemorrhagic*/therapy
Epistaxis/diagnosis ; Epistaxis/etiology ; Epistaxis/therapy ; Humans ; Nasal Mucosa ; Prevalence ; Rare Diseases
Czasopismo naukowe
Tytuł :
[An hereditary hemorrhagic telangiectasia of late revealed by a cerebral venous thrombosis: A case report].
Autorzy :
Constant Dit Beaufils P; Clinique neurologique, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France. Electronic address: .
De Gaalon S; Clinique neurologique, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
Espitia O; Service de médecine vasculaire, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
Ploton G; Service de médecine vasculaire, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
Mercier S; Service de génétique clinique, CHU de Nantes, 1, Place Alexis Ricordeau, 44093 Nantes, France.
Liberge R; Service de radiologie et imagerie médicale, CHU de Nantes, 1, Place Alexis Ricordeau, 44093 Nantes, France.
Connault J; Service de médecine vasculaire, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
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Transliterated Title :
Une télangiectasie hémorragique héréditaire révélée tardivement par une thrombose veineuse cérébrale : à propos d'un cas.
Źródło :
La Revue de medecine interne [Rev Med Interne] 2020 Sep; Vol. 41 (9), pp. 628-631. Date of Electronic Publication: 2020 Jun 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Intracranial Thrombosis/*etiology
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Venous Thrombosis/*etiology
Anticoagulants/therapeutic use ; Arteriovenous Fistula/diagnosis ; Arteriovenous Fistula/drug therapy ; Arteriovenous Fistula/etiology ; Delayed Diagnosis ; Diagnosis, Differential ; Humans ; Intracranial Thrombosis/diagnosis ; Intracranial Thrombosis/drug therapy ; Late Onset Disorders ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pulmonary Artery/abnormalities ; Pulmonary Embolism/diagnosis ; Pulmonary Embolism/drug therapy ; Pulmonary Embolism/etiology ; Pulmonary Veins/abnormalities ; Rivaroxaban/therapeutic use ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/drug therapy ; Venous Thrombosis/diagnosis ; Venous Thrombosis/drug therapy
SCR Disease Name :
Pulmonary Arteriovenous Fistulas
Czasopismo naukowe
Tytuł :
Pulmonary arteriovenous malformation managed by VATS lobectomy.
Autorzy :
Hanke I
Maršík L
Chovanec V
Slanina M
Koblížek V
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Transliterated Title :
Plicní arteriovenózní malformace řešená videoasistovanou torakoskopickou lobektomií.
Źródło :
Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti [Rozhl Chir] 2020 Fall; Vol. 99 (10), pp. 467-471.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arteriovenous Malformations*/diagnostic imaging
Arteriovenous Malformations*/surgery
Pulmonary Veins*/diagnostic imaging
Pulmonary Veins*/surgery
Telangiectasia, Hereditary Hemorrhagic*/complications
Telangiectasia, Hereditary Hemorrhagic*/surgery
Humans ; Pulmonary Artery/diagnostic imaging ; Pulmonary Artery/surgery ; Thoracic Surgery, Video-Assisted
Czasopismo naukowe
Tytuł :
Hereditary hemorrhagic telangiectasia and COVID-19.
Autorzy :
Mariano RZ; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas, SP, Brasil.
Pereira MC; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Clínica Médica, Campinas, SP, Brasil.
Reis F; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas, SP, Brasil.
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Źródło :
Revista da Sociedade Brasileira de Medicina Tropical [Rev Soc Bras Med Trop] 2020 Nov 25; Vol. 53, pp. e20200785. Date of Electronic Publication: 2020 Nov 25 (Print Publication: 2020).
Typ publikacji :
Journal Article
MeSH Terms :
COVID-19*
Telangiectasia, Hereditary Hemorrhagic*
Humans
Czasopismo naukowe
Tytuł :
Treatment of tongue telangiectasia in a patient with hereditary haemorrhagic telangiectasia.
Autorzy :
Bowers EMR; Otolaryngology, University of Pittsburgh Medical Center, Sewickley, Pennsylvania, USA.
Lee S; Department of Otolaryngology-Head and Neck Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA .
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Nov 02; Vol. 13 (11). Date of Electronic Publication: 2020 Nov 02.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Laser Coagulation/*methods
Telangiectasia, Hereditary Hemorrhagic/*surgery
Tongue/*blood supply
Tongue Diseases/*surgery
Female ; Humans ; Middle Aged ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Tongue/surgery ; Tongue Diseases/diagnosis
Czasopismo naukowe
Tytuł :
Mental health and counseling intervention for hereditary hemorrhagic telangiectasia (HHT) during the COVID-19 pandemic: perspectives from Italy.
Autorzy :
Marano G; Institute of Psychiatry and Psychology, Department of Geriatrics, Neuroscience and Orthopedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy. .
Gaetani E
Gasbarrini A
Janiri L
Sani G
Mazza M
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Corporate Authors :
Multidisciplinary Gemelli Group for HHT
Źródło :
European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2020 Oct; Vol. 24 (19), pp. 10225-10227.
Typ publikacji :
Journal Article
MeSH Terms :
COVID-19/*psychology
Counseling/*methods
Loneliness/*psychology
Mental Health/*statistics & numerical data
Telangiectasia, Hereditary Hemorrhagic/*psychology
COVID-19/epidemiology ; Humans ; Internet ; Italy/epidemiology ; Pandemics ; Telangiectasia, Hereditary Hemorrhagic/epidemiology
Czasopismo naukowe
Tytuł :
FID Score: an effective tool in Hereditary Haemorrhagic Telangiectasia - related epistaxis.
Autorzy :
Pagella F; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy.
Maiorano E; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy.
Matti E; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Tinelli C; Clinical Epidemiology and Biometry Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
De Silvestri A; Clinical Epidemiology and Biometry Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Ugolini S; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy.
Lizzio R; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Olivieri C; Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Italy.
Pusateri A; Otorhinolaryngology Unit, ASST Papa Giovanni XXIII, Bergamo, Italy.
Spinozzi G; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
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Źródło :
Rhinology [Rhinology] 2020 Oct 01; Vol. 58 (5), pp. 516-521.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Epistaxis*/etiology
Severity of Illness Index*
Telangiectasia, Hereditary Hemorrhagic*/complications
Adult ; Humans ; Research Design
Czasopismo naukowe
Tytuł :
[Hereditary hemorrhagic telangiectasia: a report of two cases].
Autorzy :
Huang Y; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China. .
Liu CT
Zheng XR
Dou B
Huang R
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Źródło :
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2020 Sep; Vol. 22 (9), pp. 1041-1042.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Telangiectasia, Hereditary Hemorrhagic*
Adolescent ; Child ; Female ; Humans ; Lung ; Male ; Mutation ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Homozygous GDF2 -Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family.
Autorzy :
Liu J; Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health and Capital Medical University, Xicheng District, Beijing, People's Republic of China.
Yang J; Department of Nuclear Medicine, Beijing Friendship Hospital and Capital Medical University, Xicheng District, Beijing, People's Republic of China; and.
Tang X; Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health and Capital Medical University, Xicheng District, Beijing, People's Republic of China.
Li H; Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health and Capital Medical University, Xicheng District, Beijing, People's Republic of China; .
Shen Y; Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health and Capital Medical University, Xicheng District, Beijing, People's Republic of China.
Gu W; Data and Analysis Center for Genetic Diseases, Beijing Chigene Translational Medicine Research Center Co, Ltd, Tongzhou District, Beijing, People's Republic of China.
Zhao S; Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health and Capital Medical University, Xicheng District, Beijing, People's Republic of China; .
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Źródło :
Pediatrics [Pediatrics] 2020 Aug; Vol. 146 (2). Date of Electronic Publication: 2020 Jul 15.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Growth Differentiation Factor 2/*genetics
Hypoxia/*etiology
Telangiectasia, Hereditary Hemorrhagic/*genetics
Asian Continental Ancestry Group/genetics ; Child ; Child, Preschool ; Consanguinity ; Endoglin/metabolism ; Epistaxis/etiology ; Female ; Homozygote ; Humans ; INDEL Mutation ; Loss of Function Mutation ; Male ; Pedigree ; Signal Transduction ; Telangiectasia, Hereditary Hemorrhagic/blood ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging ; Transforming Growth Factor beta/physiology ; Vascular Endothelial Growth Factor A/blood ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations in brain abscess patients: a nationwide, population-based matched cohort study.
Autorzy :
Bodilsen J; Department of Infectious Diseases, Aalborg University Hospital, Aalborg, Denmark. Electronic address: .
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Źródło :
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases [Clin Microbiol Infect] 2020 Aug; Vol. 26 (8), pp. 1093.e1-1093.e3. Date of Electronic Publication: 2020 Mar 20.
Typ publikacji :
Journal Article
MeSH Terms :
Arteriovenous Fistula/*epidemiology
Arteriovenous Malformations/*epidemiology
Brain Abscess/*epidemiology
Pulmonary Artery/*abnormalities
Pulmonary Veins/*abnormalities
Telangiectasia, Hereditary Hemorrhagic/*epidemiology
Adult ; Arteriovenous Fistula/complications ; Arteriovenous Fistula/diagnosis ; Arteriovenous Malformations/complications ; Brain Abscess/etiology ; Case-Control Studies ; Cohort Studies ; Comorbidity ; Denmark/epidemiology ; Female ; Hospitalization/statistics & numerical data ; Humans ; Male ; Middle Aged ; Prevalence ; Regression Analysis ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/diagnosis
SCR Disease Name :
Pulmonary Arteriovenous Fistulas
Czasopismo naukowe
Tytuł :
[A Suspected Case of Hemorrhagic Hereditary Telangiectasia Presented with Cerebral Hemorrhage in Infancy].
Autorzy :
Higuchi N; Department of Pediatrics, Saga-ken Medical Centre Koseikan.
Uda K
Mizokami T
Mitsumizo S
Ishiguro T
Komiyama M
Nishimura S
Matsuo M
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Źródło :
Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2020 Aug; Vol. 72 (8), pp. 907-911.
Typ publikacji :
Journal Article
MeSH Terms :
Arteriovenous Fistula*
Cerebral Hemorrhage*/etiology
Cerebral Hemorrhage*/genetics
Telangiectasia, Hereditary Hemorrhagic*/complications
Telangiectasia, Hereditary Hemorrhagic*/diagnosis
Telangiectasia, Hereditary Hemorrhagic*/genetics
Angiography ; Humans ; Infant ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Comparison of MRI, MRA, and DSA for Detection of Cerebral Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.
Autorzy :
Vella M; From the Departments of Radiology and Biomedical Imaging (M.V.).
Alexander MD; Department of Radiology, Division of Interventional Neuroradiology (M.D.A.), University of Utah, Salt Lake City, Utah.
Mabray MC; Department of Radiology, Division of Neuroradiology (M.C.M.), University of New Mexico, Albuquerque, New Mexico.
Cooke DL; Division of Neurointerventional Radiology (D.L.C., M.R.A., D.E.L., S.W.H.).
Amans MR; Division of Neurointerventional Radiology (D.L.C., M.R.A., D.E.L., S.W.H.).
Glastonbury CM; Division of Diagnostic Neuroradiology (C.M.G.).
Kim H; Hereditary Hemorrhagic Telangiectasia Center of Excellence (H.K., D.E.L., M.B.C., S.W.H.).; Anesthesia and Perioperative Care (H.K.), University of California, San Francisco, San Francisco, California.
Wilson MW; Division of Interventional Radiology (M.W.W., M.B.C.).
Langston DE; Division of Neurointerventional Radiology (D.L.C., M.R.A., D.E.L., S.W.H.).; Hereditary Hemorrhagic Telangiectasia Center of Excellence (H.K., D.E.L., M.B.C., S.W.H.).
Conrad MB; Division of Interventional Radiology (M.W.W., M.B.C.).; Hereditary Hemorrhagic Telangiectasia Center of Excellence (H.K., D.E.L., M.B.C., S.W.H.).
Hetts SW; Division of Neurointerventional Radiology (D.L.C., M.R.A., D.E.L., S.W.H.) .; Hereditary Hemorrhagic Telangiectasia Center of Excellence (H.K., D.E.L., M.B.C., S.W.H.).
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Źródło :
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2020 Jun; Vol. 41 (6), pp. 969-975. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Central Nervous System Vascular Malformations/*diagnostic imaging
Central Nervous System Vascular Malformations/*etiology
Neuroimaging/*methods
Telangiectasia, Hereditary Hemorrhagic/*complications
Telangiectasia, Hereditary Hemorrhagic/*pathology
Adolescent ; Adult ; Aged ; Angiography, Digital Subtraction/methods ; Central Nervous System Vascular Malformations/pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Magnetic Resonance Angiography/methods ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Retrospective Studies ; Sensitivity and Specificity ; Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
Autorzy :
Villa D; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Cinnante C; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, Italy.
Valcamonica G; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Manenti G; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Lanfranconi S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Colombi A; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Ghione I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Saetti MC; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
D'Amico M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unità di Radiologia, Milan, Italy.
Bonato S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Bresolin N; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Ronchi D; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy. .
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Źródło :
BMC neurology [BMC Neurol] 2020 Aug 26; Vol. 20 (1), pp. 316. Date of Electronic Publication: 2020 Aug 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Endoglin/*genetics
Malformations of Cortical Development/*genetics
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Activin Receptors, Type II/genetics ; Arteriovenous Fistula/diagnosis ; Arteriovenous Malformations/genetics ; Heterozygote ; Humans ; Male ; Mutation ; Pulmonary Artery/abnormalities ; Pulmonary Veins/abnormalities ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Tomography, X-Ray Computed ; Young Adult
SCR Disease Name :
Pulmonary Arteriovenous Fistulas
Czasopismo naukowe
Tytuł :
[Nasal self-packing in patients with recurrent epistaxis and hereditary hemorrhagic telangiectasia (HHT)].
Autorzy :
Droege F; Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland.
Lang S; Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland.
Kansy B; Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland.
Geisthoff U; Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie, Universitätsklinikum Gießen und Marburg, Philipps-Universität Marburg, Marburg, Deutschland.
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Transliterated Title :
Selbsttamponade bei rezidivierender Epistaxis am Beispiel der hereditären hämorrhagischen Teleangiektasie (HHT).
Źródło :
Laryngo- rhino- otologie [Laryngorhinootologie] 2020 Aug; Vol. 99 (8), pp. 528-530. Date of Electronic Publication: 2020 Jul 30.
Typ publikacji :
Journal Article
MeSH Terms :
Epistaxis*/etiology
Telangiectasia, Hereditary Hemorrhagic*
Bandages ; Humans ; Nose
Czasopismo naukowe
Tytuł :
Transthoracic contrast echocardiography in pulmonary arteriovenous malformation evaluation.
Autorzy :
Mani BI; Department of Medicine, PMMPHAMB Hospital, Jalan Sungai Basong TA 1341, Tutong, Brunei Darussalam.
Chong VH; Department of Medicine, PMMPHAMB Hospital, Jalan Sungai Basong TA 1341, Tutong, Brunei Darussalam.; Department of Medicine, RIPAS Hospital, Bandar Seri Begawan BA 1710, Brunei Darussalam.; Institute of Health Sciences, PAPRSB, Universiti Brunei Darussalam, Brunei Darussalam.
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Źródło :
QJM : monthly journal of the Association of Physicians [QJM] 2020 Aug 01; Vol. 113 (8), pp. 594-595.
Typ publikacji :
Letter; Comment
MeSH Terms :
Arteriovenous Fistula*
Pulmonary Veins*
Telangiectasia, Hereditary Hemorrhagic*
Echocardiography ; Humans ; Pulmonary Artery
Opinia redakcyjna
Tytuł :
Intravenous Bevacizumab in Hereditary Hemorrhagic Telangiectasia-Related Bleeding and High-Output Cardiac Failure: Significant Inter-Individual Variability in the Need for Maintenance Therapy.
Autorzy :
Albitar HAH; Department of Internal Medicie, Mayo Clinic, Rochester, MN.
Almodallal Y; Division of Pediatric Allergy and Immunology, Mayo Clinic, Rochester, MN.
Gallo De Moraes A; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
O'Brien E; Division of Hematology, Mayo Clinic, Rochester, MN.
Choby GW; Division of Hematology, Mayo Clinic, Rochester, MN.
Pruthi RK; Division of Hematology, Mayo Clinic, Rochester, MN.
Stokken JK; Division of Hematology, Mayo Clinic, Rochester, MN.
Kamath PS; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.
Cajigas HR; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
DuBrock HM; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
Krowka MJ; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
Iyer VN; Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN. Electronic address: .
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Źródło :
Mayo Clinic proceedings [Mayo Clin Proc] 2020 Aug; Vol. 95 (8), pp. 1604-1612.
Typ publikacji :
Journal Article
MeSH Terms :
Angiogenesis Inhibitors/*therapeutic use
Bevacizumab/*therapeutic use
Heart Failure/*drug therapy
Hemorrhage/*drug therapy
Telangiectasia, Hereditary Hemorrhagic/*drug therapy
Adult ; Aged ; Aged, 80 and over ; Angiogenesis Inhibitors/administration & dosage ; Bevacizumab/administration & dosage ; Female ; Heart Failure/etiology ; Hemorrhage/etiology ; Humans ; Individuality ; Injections, Intravenous ; Male ; Middle Aged ; Precision Medicine/methods ; Retrospective Studies ; Telangiectasia, Hereditary Hemorrhagic/complications
Czasopismo naukowe

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