Results 221 to 230 of about 436,315 (283)

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Remarkable Recovery After Delayed High‐Dose Methylprednisolone in a Rare Case of Penetrating Spinal Cord Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Traumatic spinal cord injury (TSCI) caused by sharp‐force penetration is exceptionally rare, and the use of high‐dose methylprednisolone (MP) remains highly controversial, especially beyond the conventional 8‐h treatment window. This case report describes a 30‐year‐old male with acute incomplete TSCI following a knife stab wound to the right ...
Honghong Wang, Shuang Liu, Jiale Wang, Kaiyang Xue, Shenwei Li, Zhongheng Du   +5 more
wiley   +1 more source

Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier.

Indian J Crit Care Med, 2015
Vinod KV, Hitha B, Kaaviya R, Dutta TK.
europepmc   +1 more source

FXII Frameshift Variant Does Not Cause Hereditary Angioedema with Normal C1 Inhibitor. [PDF]

J Clin Immunol
Miyata T, Horiuchi T, Hide M.
europepmc   +1 more source

Identification of an F13A1 frameshift variant associated with factor XIII deficiency in a Coonhound dog with severe coagulopathy. [PDF]

J Vet Intern Med
Pieples LA, Cook SR, Tinsman A, Brooks MB, Goggs R, Evans JM.   +5 more
europepmc   +1 more source

Factor X Deficiency

Seminars in Thrombosis and Hemostasis, 2009
Factor X (FX) deficiency is a rare, recessively inherited bleeding disorder representing 10% of all rare bleeding diseases and affecting 1 in every 1,000,000 people. Its clinical presentation places FX deficiency among the most severe of the rare coagulation defects, typically including hemarthroses, hematomas, and umbilical cord, gastrointestinal, and
Marzia, Menegatti, Flora, Peyvandi
core   +4 more sources

Severe factor X deficiency in a twin pregnancy

Archives of Gynecology and Obstetrics, 2009
Factor X deficiency is a rare bleeding disorder inherited in an autosomal recessive fashion. In severe cases with a definitive bleeding phenotype, prophylaxis with prothrombin complex concentrate appears to prevent bleeding very effectively. Management of factor X-deficient pregnant patients continues to be a challenge.
M Sinan, Beksaç, Zeliha, Atak, Tülay, Ozlü   +2 more
openaire   +3 more sources