Results 81 to 90 of about 182,088 (307)

A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy. [PDF]

, 2019
Rosette-forming glioneuronal tumor (RGNT) most commonly occurs adjacent to the fourth ventricle and therefore rarely presents with epilepsy. Recent reports describe RGNT occurrence in other anatomical locations with considerable morphologic and genetic ...
Corless, Christopher L, Ferris, Sean P, Grafe, Marjorie, Gultekin, Sakir H, Halfpenny, Aaron, Lawce, Helen, Lucas, Lora, Moore, Stephen, Nazemi, Kellie, Olson, Susan, Perry, Arie, Selden, Nathan, Solomon, David A, Woltjer, Randy, Wood, Matthew D   +14 more
core   +1 more source

X-Linked Thrombocytopenia with Beta-Thalassemia [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

PB2240: SILENT GLOBIN MUTATIONS. 10 YEARS REFERRALS FOR GENETIC COUNSELING.

HemaSphere, 2022
S. Theodoridou, A. Teli, E. Boutou, E.-E. Delaki, E. Yfanti, V. Efthimia, E. Zarkada, A. Balassopoulou   +7 more
doaj   +1 more source

PAIN MANAGEMENT IN PATIENTS WITH SICKLE CELL DISEASE – A REVIEW [PDF]

European Medical Journal Hematology, 2013
Pain is defined, by the International Association for the Study of Pain (IASP), as an ‘unpleasant sensitive and emotional experience, associated with or described in terms of tissue lesion’.
Sophia Delicou, Konstantinos Maragkos
doaj  

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency [PDF]

, 2018
Purpose: Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining ...
Ionova, Tatyana, Johns, Jeffrey, Oliva, Esther Natalie, Salek, Mir-Saeed Shayegan   +3 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

PB2541: RARE CAP +41 TO +44 [HBB:C.11_-8DELAAAC]/NI MUTATION IN THE 5;UTR OF THE Β GLOBIN GENE IN A GREEK MALE AND GENETIC COUNSELING.

HemaSphere, 2023
Stamatia Theodoridou, Evaggelia-Eleni Delaki, Eleni Yfanti, Aikaterini Teli, Genovefa Mantzou, Christina Karipidou, Maria Dimopoulou   +6 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Perceptions of thalassemia and its treatment among Malaysian thalassemia patients: A qualitative study [PDF]

, 2016
Background Thalassemia is a common public health problem in Malaysia and one of the most common chronic and genetic disorders. Aims The present qualitative study explores knowledge about thalassemia, perceptions about conventional therapies and the ...
Ahmad Hassali, Mohamed Azmi, Aljadhey, Hisham, Farooqui, Maryam, Ismail, Wan Ismahanisa, Saleem, Fahad   +4 more
core   +2 more sources