Results 41 to 50 of about 23,191 (234)

Role of novel and rare nucleotide substitutions of the β-globin gene

Thalassemia Reports, 2012
The Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at the Villa Sofia-Cervello Hospital in Palermo, Italy, carries out an intensive screening program aimed at identifying the healthy carriers of thalassemia and, consequently, the ...
Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Pina Lo Gioco, Filippo Leto, Cristina Passarello, Antonino Giambona   +6 more
doaj   +1 more source

Significance of the mathematically calculated red cell indices in patients with qualitative and quantitative hemoglobinopathies

The Egyptian Journal of Internal Medicine, 2022
Background Hemoglobinopathies represent a set of inherited red blood cell (RBCs) disorders, characterized by abnormal hemoglobin molecule. They include qualitative and quantitative hemoglobinopathies, with a structurally abnormal globin chain in the ...
Heba A. Ahmed, Safaa A. A. Khaled, Eman M. Fahmy, Nesreen A. Mohammed, Hamdy F. F. Mahmoud   +4 more
doaj   +1 more source

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source

Prevention of RhD alloimmunization in the first trimester of pregnancy: Clinical practice guidelines of the French College of Obstetricians and Gynecologists

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract The French College of Obstetricians and Gynecologists has decided to update its clinical practices guidelines for preventing RhD alloimmunization in the first trimester of pregnancy. The quality of evidence of the literature was assessed following the GRADE methodology with questions formulated in the Patients, Intervention, Comparison ...
Paul Maurice, Solène Vigoureux, Charles Garabedian, Jeanne Sibiude, Nicolas Sananès   +4 more
wiley   +1 more source

Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

Thalassemia Reports, 2015
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable.
Suha Mustafa Hassan, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano   +6 more
doaj   +1 more source

Lentiviral and genome-editing strategies for the treatment of β-hemoglobinopathies.

Blood, 2019
Beta-thalassemia and sickle cell disease (SCD) are the most prevalent monogenic diseases. These disorders are caused by quantitative or qualitative defects in the production of adult hemoglobin.
E. Magrin, A. Miccio, M. Cavazzana
semanticscholar   +1 more source

FIGO position statement: Gamete donations

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Gamete donation has become a crucial part of Assisted Reproductive Technologies (ARTs), providing hope to individuals, including those who may have no other option for parenthood. This process comes with a wide range of ethical, medical, and legal challenges that need to be carefully addressed to protect the well‐being and rights of all ...
Laurie Henry, Aris Antsaklis, Dov Feldberg, Jaideep Malhotra, Suchitra Pandit, Carlos Salazar, Alex Vidaeff, Rafal Zadykowicz, M. Louise Hull, Nikhil Purandare, the FIGO Committee on the Ethical Aspects of Human Reproduction and Women's Health and the FIGO Committee on Reproductive Medicine, Endocrinology, and Infertility, Jackline Akol, Andres Calle, Akira Iwase, Togas Tulandi, Lourdes Capito, Julie Chor, Salome Maswime, Ana G. Quijada   +20 more
wiley   +1 more source

Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants

Journal of Clinical Laboratory Analysis, EarlyView.
This study mainly to evaluate the performance of nanopore technology in thalassemia detection by utilizing the national genomic reference materials in China. We proved that the reference materials can be used to evaluate the performance of nanopore sequencing in identifying thalassemia mutations, and it's necessary to incorporate triplicates when ...
Xingyu Wei, Xu Yang, Wanqing Han, Li Zhang, Guojun Ouyang, Shoufang Qu, Fang Yang, Xuexi Yang   +7 more
wiley   +1 more source

Treatment Experience Using a Micro‐Induction Buprenorphine Protocol for Chronic Pain in Pediatric Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Patients with sickle cell disease (SCD) experience painful vaso‐occlusive episodes that increase with age; a subset develops chronic pain (CP). CP is usually managed with acute pain management guidelines despite evidence of ineffectiveness.
Ashwin Patel, Grace Kalmus, Carlton Dampier, Ifeyinwa Osunkwo, Tamara New, Beatrice Gee, Elna Saah   +6 more
wiley   +1 more source

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

International Journal of Neonatal Screening
Hemoglobinopathies are the commonest monogenic disorder worldwide, with approximately seven percent of the world population being carriers of hemoglobinopathies.
Ryan Jilek, Jennifer Marcy, Carol Johnson, Georgianne Younger, Amy Calhoun, Moon Ley Tung   +5 more
doaj   +1 more source