Results 11 to 20 of about 14,684 (152)

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Information Shocks, Legal Liability and Physician Decisions

Health Economics, EarlyView.
ABSTRACT Physician adoption of new information about a medical procedure can affect patient outcomes. Medical malpractice law may influence physician use of such information. We analyze how physician reactions to information shocks regarding vaginal births after cesarean sections (VBACs) in the 1990s were mediated by tort reform and the standard used ...
David Mushinski, Sammy Zahran
wiley   +1 more source

Iron deficiency with and without anemia in pregnancy: A scoping review of prevalence and perinatal impact

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background The prevalence of iron deficiency with anemia and iron deficiency without anemia (IDWA) during pregnancy have not been summarized, and evidence of the direct association of IDWA with adverse perinatal outcomes (APO) are unknown.
Lucky O. Lawani, David M. Naimark, Joel G. Ray, Jessica Widdifield, Paul Eze, Chidumebi J. Idemili, Nadine Shehata   +6 more
wiley   +1 more source

The impact of low‐dose aspirin on hemoglobin levels in pregnancy: A secondary analysis of a randomized controlled trial for prevention of hypertensive disorders of pregnancy

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objectives This study evaluates the association of low‐dose aspirin (LDA) with hemoglobin (Hb) levels during pregnancy and explores how changes in Hb levels relate to hypertensive disorders of pregnancy (HDP). Methods This secondary analysis of a randomized controlled trial comprised 249 pregnant women recruited from a regional hospital in ...
N. M. Ngcobo, V. Dorsamy, C. Bagwandeen, P. Z. Mkhize, J. Moodley   +4 more
wiley   +1 more source

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

iNew Medicine, EarlyView.
ABSTRACT The field of gene editing has evolved rapidly over the past decade, progressing from programmable zinc‐finger nucleases (ZFNs) and transcription activator‐like effector nucleases (TALENs) to the widespread adoption of CRISPR‐Cas systems. First‐generation editors catalyzed genome engineering by introducing targeted double‐strand breaks (DSBs ...
Li‐Kuang Tsai, Youcai Xiong, Dongqi Liu, Dongshan Yang, Jifeng Zhang, Jie Xu, Renzhi Han, Y. Eugene Chen   +7 more
wiley   +1 more source

Pubertal Assessment and Growth in Patients With Hemoglobinopathies: A Longitudinal Multicenter Study on the Association With Ferritin Levels. [PDF]

Eur J Haematol
ABSTRACT Objectives Although Advancements in the Treatment of Hemoglobinopathies have Considerably Increased Life Expectancy, Hormonal and Pubertal Development Have Been Continuously Affected by Complications From Transfusion‐Related Iron Overload and Cytotoxic Therapies.
Dülberg J, Sanchez C, Burckhardt MA, Alacán Friedrich L, Salow V, Radauer-Plank A, Borgmann-Staudt A, Cario H, Diepold M, Drexler B, Infanti L, Kroiss S, Dietliker N, Merki R, Njue L, Oevermann L, Rovó A, Scheinemann K, Schneider M, Balcerek M, Diesch-Furlanetto T.   +20 more
europepmc   +2 more sources

Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon, Nancy Tayles, Sarah Agatha Villaluz, Pratiwi Yuwono, Kate Domett, Melandri Vlok   +5 more
wiley   +1 more source

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

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Does Sickle Cell Anaemia Have a Relationship With Avascular Pulp Necrosis? A Systematic Review

Australian Endodontic Journal, EarlyView.
ABSTRACT This systematic review examined the relationship between sickle cell disease (SCD), an inherited genetic hemoglobinopathy, and avascular pulp necrosis (APN) in intact teeth. A comprehensive search of eight electronic databases was performed up to December 2024.
Elidiane Elias Ribeiro, Karin Sá Fernandes, Erika Sales Joviano Pereira, Angelica Maria Cupertino Lopes Marinho, Jefferson R. Tenório, Márcia Pereira Alves dos Santos   +5 more
wiley   +1 more source