Results 41 to 50 of about 306,932 (310)

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume

Platelets, 2022
The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor, David Rabbolini, Marie-Christine Morel-Kopp, Kate Fixter, Dea Donikian, Mayuku Kondo, Onki Chan, Susan Jarvis, Walter Chen, Timothy Brighton, Vivien Chen, Christopher Ward, Joanne Joseph   +12 more
doaj   +1 more source

Equine degenerative myeloencephalopathy: prevalence, impact, and management. [PDF]

, 2018
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy is an inherited neurodegenerative disorder affecting many horse breeds. Clinical signs include a symmetric ataxia and an abnormal stance at rest, similar to cervical vertebral ...
Burns, Erin N, Finno, Carrie J
core  

Parent Quality of Life at Two Years Following Their Child's Completion of Acute Lymphoblastic Leukemia Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Parents of children treated for acute lymphoblastic leukemia (ALL) often experience significant caregiver burden and disruption to their well‐being. While parent quality of life (QoL) during treatment is well characterized, little is known about outcomes during early survivorship.
Sara Dal Pra, Maria McCarthy, Michael Takagi, Cinzia De Luca   +3 more
wiley   +1 more source

Cognitive Functioning in Vorinostat‐Treated Pediatric and Young Adult Patients Over the First 180 Days After Hematopoietic Stem Cell Transplant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Cognitive and psychological difficulties could negatively interfere with treatment adherence and quality of life before and after hematopoietic stem cell transplant (HSCT). Methods to mitigate these changes may have positive effects on treatment success.
Kristen L. Votruba, Michelle Rozwadowski, Thomas Braun, April Rahrig, Edward Peres, Kirsten M. Williams, Vanessa Fabrizio, Julie‐An Talano, Carrie L. Kitko, Nicolas Parnell, Pavan Reddy, Sung Won Choi   +11 more
wiley   +1 more source

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Haematologica, 2017
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G. Heller, Cristina Santoro, Rezan A. Kadir, Nora C. Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D. Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P. Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C. Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele   +35 more
doaj   +1 more source

Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]

, 2012
In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
core   +1 more source

Improving the Evaluation and Management of Transfusion‐Related Iron Overload in Children, Adolescents, and Young Adults Following Cancer Treatment or Hematopoietic Stem Cell Transplantation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Transfusion‐related iron overload (TRIO) is a late effect of therapy impacting survivors of childhood cancer and hematopoietic stem cell transplantation (HSCT) who receive frequent packed red blood cell (pRBC) transfusions. Surprisingly, there are no accepted guidelines to assist providers in identifying and treating at‐risk ...
Luke Gingell, Allison Close, Guoli Zhou, Troy C. Quigg   +3 more
wiley   +1 more source

Providing a Realist Perspective on the eyeGENE Database System [PDF]

, 2009
One of the achievements of the eyeGENE Network is a repository of DNA samples of patients with inherited eye diseases and an associated database that tracks key elements of phenotype and genotype information for each patient.
Werner Ceusters
core   +2 more sources

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda, Tomohiro Saito, Masahide Mizobuchi, Tomoki Shimomura, Saki Kawamori, Mitsuru Kawanishi, Natsuko Hattori, Jo Sugiyama, Satoshi Tsubata, Hanami Horiguchi, Kazuki Abe, Nao Iida, Yuki Kajio, Nao Oguro, Ryo Yanai, Hirokazu Honda   +15 more
wiley   +1 more source