Results 51 to 60 of about 1,413,284 (292)

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Pulmonary hypertension

, 2016
In 2015, more than 800 papers were published in the field of pulmonary hypertension. A Clinical Year in Review article cannot possibly incorporate all this work and needs to be selective.
Harm Jan Bogaard, Bogaard, Harm Jan, Vonk Noordegraaf, Anton, Groeneveldt, Joanne A., Noordegraaf, Anton Vonk, Joanne A. Groeneveldt, Anton Vonk Noordegraaf   +6 more
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis

Hepatology, EarlyView., 2022
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr, Benedikt Kaufmann, Maria Eugenia Inzaugarat, Theresa Maria Holtmann, Lukas Geisler, Jana Hundertmark, Marlene Sophia Kohlhepp, Laela M. Boosheri, Daisy R. Chilin‐Fuentes, Amanda Birmingham, Kathleen M. Fisch, Joel D. Schilling, Sven H. Loosen, Christian Trautwein, Christoph Roderburg, Münevver Demir, Frank Tacke, Hal M. Hoffman, Ariel E. Feldstein, Alexander Wree   +19 more
wiley   +1 more source

Acute necrotising pulmonary vasculitis and pulmonary hypertension in a juvenile dog [PDF]

, 2008
A five-month-old female Jack Russell terrier was presented for investigation of acute lethargy, anorexia, coughing, respiratory distress and weakness. Examination findings included cyanosis, a grade 3 of 6 systolic heart murmur and prolonged capillary ...
Russell, N.J., Nicholls, P.K., Olivry, T., Irwin, P.J., Hopper, B.J.   +4 more
core  

Radical Resection of the Third Portion of the Duodenum for Secondary Aortoduodenal Fistula

Annals of Gastroenterological Surgery, EarlyView.
Secondary aortoduodenal fistula most commonly involves the third portion of the duodenum and requires definitive management of both vascular and gastrointestinal components. We demonstrate a step‐by‐step technique for radical duodenal resection and reconstruction performed in structured collaboration with cardiovascular surgeons.
Koji Kubota, Akira Shimizu, Tsuyoshi Notake, Tatsuichiro Seto, Yuji Soejima   +4 more
wiley   +1 more source

Prognosis and Treatment With Phosphodiesterase 5 Inhibitors in Combined Post‐ and Precapillary Pulmonary Hypertension: A Propensity Score‐Matched Analysis From the Hellenic Pulmonary Hypertension Registry

Pulmonary Circulation
Combined post‐ and precapillary pulmonary hypertension (CpcPH) comprises the most severe form of postcapillary PH. A severe precapillary component (pulmonary vascular resistance [PVR] > 5 WU) is critical for therapeutic decisions.
Georgios E. Papadopoulos, Alexandra Arvanitaki, Sophia‐Anastasia Mouratoglou, Panagiotis Gourgiotis, Thomas Chrysochoidis‐Trantas, Athena Mpatsouli, Aris Bechlioulis, Aikaterini Naka, Eftychia Demerouti, Panagiotis Karyofyllis, Dimitrios Tsiapras, Anastasia Anthi, Athanasios Manginas, Antonios Ziakas, Stephan Rosenkranz, George Giannakoulas   +15 more
doaj   +1 more source

Definitions and Diagnosis of Pulmonary Hypertension [PDF]

, 2013
Pulmonary hypertension (PH) is defined by a mean pulmonary artery pressure ≥25 mm Hg at rest, measured during right heart catheterization. There is still insufficient evidence to add an exercise criterion to this definition.
Satoh, T., Bogaard, Harm Jan, Kurzyna, M., Wilkins, M.R., Frantz, R., Langleben, David, Khanna, Dinesh, Manes, Alessandra, Bogaard, H.J., Khanna, D., Badesch, David B., Hoeper, Marius M., Kurzyna, Marcin, Torres, F., Hoeper, M.M., Satoh, Toru, Wilkins, Martin R., Torres, Fernando, Condliffe, R., Langleben, D., Badesch, D.B., Frantz, Robert, Condliffe, Robin, Manes, A.   +23 more
core   +1 more source

Magnetic resonance imaging in pulmonary hypertension: an overview of current applications and future perspectives.

, 2022
Pulmonary hypertension is an heterogeneous group of diseases characterised by increased pulmonary arterial pressures which impact on the upstream right ventricle.
Chaouat, A., Schwitter, J., Aubert, J.D., Lechartier, B.   +3 more
core   +1 more source