Results 41 to 50 of about 3,349,140 (303)

Camptocormia in patients with multiple system atrophy at different disease durations: frequency and related factors

BMC Neurology, 2021
Background Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations.
Ling Yu Zhang, Bei Cao, Qian-Qian Wei, Ru Wei Ou, Bi Zhao, Jing Yang, Ying Wu, Hui Fang Shang   +7 more
doaj   +1 more source

Rare inherited disorders of fibrinogen [PDF]

Haemophilia, 2008
Summary.  Fibrinogen, a hexameric glycoprotein encoded by three genes –FGA, FGB, FGG– clustered on chromosome 4q is involved in the final steps of coagulation as a precursor of fibrin monomers required for the formation of the haemostatic plug. Inherited disorders of fibrinogen abnormalities are rare and not as well clinically characterized as some ...
S S, Acharya, D M, Dimichele
openaire   +2 more sources

Knowledge and therapeutic gaps : a public health problem in the rare coagulation disorders population

, 2011
Rare coagulation disorders (RCDs) present a considerable and multifaceted public health risk. Although inherited RCDs affect a minor segment of any local healthcare delivery system, their global impact is major and highlight the challenges of delivering ...
J. M. Soucie, Clotting Disorders Working Group, UDC Rare Bleeding, D. M. Dimichele, the European Network Rare Bleeding Disorders Database, A. D. Shapiro, D. J. Aschman, F. Peyvandi   +7 more
core   +1 more source

Broadening the phenotype of the TWNK gene associated Perrault syndrome

BMC Medical Genetics, 2019
Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms.
Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar   +9 more
doaj   +1 more source

Quantification of early learning and movement sub-structure predictive of motor performance

Scientific Reports, 2021
Time-to-fall off an accelerating rotating rod (rotarod) is widely utilized to evaluate rodent motor performance. We reasoned that this simple outcome could be refined with additional measures explicit in the task (however inconspicuously) to examine what
Vikram Jakkamsetti, William Scudder, Gauri Kathote, Qian Ma, Gustavo Angulo, Aksharkumar Dobariya, Roger N. Rosenberg, Bruce Beutler, Juan M. Pascual   +8 more
doaj   +1 more source

An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders. [PDF]

, 2019
BACKGROUND Recently an increasing number of digital tools to aid clinical work have been published. This study's aim was to create an algorithm which can assist physicians as a "digital expert" with the differential diagnosis of central ocular motor ...
Kremmyda, Olympia, Brémovà-Ertl, Tatiana, Kraus, Ludwig, Barceló, Sebastià, Feil, Katharina, Strupp, Michael   +5 more
core   +3 more sources

Management of Wilson disease across Europe: an international physician-oriented survey by the ERN-RARE Liver group

Orphanet Journal of Rare Diseases
Background Wilson disease (WD) is a rare disorder resulting in copper overload. Diagnosis and treatment are complex and highly specialized. We aimed to investigate the management of WD across Europe in line with the mission and framework of the European ...
Frederik Teicher Kirk, Karina Stubkjær Rewitz, Zoe Mariño, Eduardo Couchonnal, Nicolas Lanthier, Wiebke Papenthin, Marina Berenguer, Aurelia Poujois, Dominique Debray, Aftab Ala, Luis García-Villarreal, Tudor Lucian Pop, Gerald Denk, Piotr Socha, Thomas Damgaard Sandahl   +14 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Zinc finger nuclease-mediated gene editing in hematopoietic stem cells results in reactivation of fetal hemoglobin in sickle cell disease

Scientific Reports
BIVV003 is a gene-edited autologous cell therapy in clinical development for the potential treatment of sickle cell disease (SCD). Hematopoietic stem cells (HSC) are genetically modified with mRNA encoding zinc finger nucleases (ZFN) that target and ...
Samuel Lessard, Pauline Rimmelé, Hui Ling, Kevin Moran, Benjamin Vieira, Yi-Dong Lin, Gaurav Manohar Rajani, Vu Hong, Andreas Reik, Richard Boismenu, Ben Hsu, Michael Chen, Bettina M. Cockroft, Naoya Uchida, John Tisdale, Asif Alavi, Lakshmanan Krishnamurti, Mehrdad Abedi, Isobelle Galeon, David Reiner, Lin Wang, Anne Ramezi, Pablo Rendo, Mark C. Walters, Dana Levasseur, Robert Peters, Timothy Harris, Alexandra Hicks   +27 more
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source