Results 71 to 80 of about 61,606 (299)

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Optimisation of the Schizosaccharomyces pombe urg1 expression system [PDF]

, 2013
The ability to study protein function in vivo often relies on systems that regulate the presence and absence of the protein of interest. Two limitations for previously described transcriptional control systems that are used to regulate protein expression
A Yamashita, Adam T. Watson, Antony M. Carr, AT Watson, BJ Brewer, C Van Huffel, Charly Chahwan, EJ Chapman, G Andersen, G Basi, G Maga, HM Chen, HM Verkade, J Bahler, J Frampton, Johanne M. Murray, K Maundrell, K Mizuno, K Mizuno, K Nishimura, M Kanke, MA Savageau, Marco Muzi-Falconi, S Lambert, S Lambert, S Marguerat, S Moreno, S Watt, S Yamanaka, S Yokobayashi, Saed Mohebi, Thomas J. Etheridge, Y Harigaya, Y Yamagishi, Yasukazu Daigaku   +34 more
core   +2 more sources

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Exploring barriers and strategies for hydroxyurea uptake using the CFIR–ERIC framework: A qualitative study of sickle cell disease in India

Clinical Epidemiology and Global Health
Problem considered: Hydroxyurea therapy is the cornerstone in treating sickle cell disease (SCD). However, the adherence to hydroxyurea by individuals with SCD is limited, owing to several barriers at multiple levels.
Vandana Mullakkal Venugopalan, Anindita Banerjee, Nithin Rajamani, Ravi Gajbhiye, Manisha Madkaikar, Naveen Khargekar   +5 more
doaj   +1 more source

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, EarlyView.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +1 more source

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

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Survival and mortality among users and non-users of hydroxyurea with sickle cell disease

Revista Latino-Americana de Enfermagem, 2015
OBJECTIVE: to estimate survival, mortality and cause of death among users or not of hydroxyurea with sickle cell disease.METHOD: cohort study with retrospective data collection, from 1980 to 2010 of patients receiving inpatient treatment in two Brazilian
Olinda Maria Rodrigues de Araujo, Maria Lúcia Ivo, Marcos Antonio Ferreira Júnior, Elenir Rose Jardim Cury Pontes, Ieda Maria Gonçalves Pacce Bispo, Eveny Cristine Luna de Oliveira   +5 more
doaj   +1 more source

Development of the InCharge Health Mobile App to Improve Adherence to Hydroxyurea in Patients With Sickle Cell Disease: User-Centered Design Approach

JMIR mHealth and uHealth, 2020
BackgroundSickle cell disease (SCD) is an inherited blood disorder causing acute complications and chronic progressive end organ damage. SCD is associated with significant morbidity, early mortality, impaired health-related quality of life, and increased
Alberts, Nicole M, Badawy, Sherif M, Hodges, Jason, Estepp, Jeremie H, Nwosu, Chinonyelum, Khan, Hamda, Smeltzer, Matthew P, Homayouni, Ramin, Norell, Sarah, Klesges, Lisa, Porter, Jerlym S, Hankins, Jane S   +11 more
doaj   +1 more source

A rare case of melanosis of the hard palate mucosa in a patient with chronic myeloid leukemia [PDF]

, 2015
Imatinib Mesylate, also known as Gleevec or ST1-571, is a tyrosine-kinase inhibitor used as the gold standard medication for the chronic myeloid leukemia (CML); Imatinib has indeed deeply revolutionized the CML therapy allowing most patients to have a ...
Bosco, Daniela, Fantozzi, Paolo Junior, Palaia, Gaspare, Romeo, Umberto, Tenore, Gianluca   +4 more
core   +3 more sources