Results 71 to 80 of about 24,308 (321)

Acute Ischemic Stroke in Sickle Cell Disease Challenges for Thrombolysis

Dubai Medical Journal, 2020
Sickle cell disease (SCD) is a hemoglobinopathy disorder that was recognized in 1949. Stroke is one of the most devastating complications of this disorder.
Amal Al Hashmi, Sanjith Aaron
doaj   +1 more source

Child Health Providers\u27 Precautionary Discussion of Emotions During Communication about Results of Newborn Genetic Screening [PDF]

, 2012
Objective To demonstrate a quantitative abstraction method for Communication Quality Assurance projects to assess physicians\u27 communication about hidden emotions after newborn genetic screening.
Christopher, Stephanie, Deuster, Lindsay, Farrell, Michael, Speiser, Jodi   +3 more
core   +1 more source

A validated measure of adherence to antibiotic prophylaxis in children with sickle cell disease [PDF]

, 2016
BACKGROUND: Antibiotic prophylaxis is a mainstay in sickle cell disease management. However, adherence is estimated at only 66%. This study aimed to develop and validate a Sickle Cell Antibiotic Adherence Level Evaluation (SCAALE) to promote systematic ...
Bloom, Ellen M., Duncan, Natalie A., Hampton, Kisha C., Kronenberger, William G., Rampersad, Angeli G., Roberson, Christopher P., Shapiro, Amy D.   +6 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

The Effect of Resveratrol on Gamma Globin Gene Expression in Patients with Beta Thalassemia: The Role of Adaptation to Cellular Stress

Thalassemia Reports
HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers ...
Hossein Jalali, Mohammad Reza Mahdavi, Mehrnoush Kosaryan, Ahmad Najafi, Aily Aliasgharian, Ebrahim Salehifar   +5 more
doaj   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]

, 2011
Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core   +1 more source

First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family [PDF]

, 2014
BACKGROUND: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G > A) is an unstable hemoglobin variant resulting from a β 74 GGC to GAC mutation (Gly to Asp) that manifests clinically as hemolytic anemia or gall bladder disease due
Jordan Olson, Keri Donaldson, Lauren Estep, Scott L Paradise   +3 more
core   +1 more source

Prevention of the Hemoglobinopathies

Thalassemia Reports, 2013
The inherited hemoglobin disorders not only cause suffering and unhappiness to the patients but they also absorb a large part of resources and human effort in several countries which harbor the deleterious genes [...]
openaire   +3 more sources

Abnormally Low Hemoglobin A1c as Harbinger of Hemoglobinopathy

Journal of the American Board of Family Medicine, 2019
Hemoglobin A1c is frequently used in primary care to screen for and monitor disorders of glucose metabolism. A number of clinical syndromes may impact the accuracy of this laboratory value.
Joshua St Louis, A. Valdini
semanticscholar   +1 more source