Results 51 to 60 of about 11,317 (250)

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

Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals

Medicine Science, 2020
Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya, Hasan Karagecili, Mustafa Oguzhan Kaya   +2 more
doaj   +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

Sickle cell disease status among school adolescents and their tribal community in South Gujarat [PDF]

, 2009
Objectives: to create awareness, to screen samples of school adolescents and then to reach their community through them by doing surveillance for sickle cell disease. Design: Field based cross-sectional study. Settings: St Xavier`s high school and Vanraj
Chudasama, Rajesh K, Godara, Naresh R, Srivastava, Ratan K, Vasava, Bipin   +3 more
core   +1 more source

The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease [PDF]

, 2006
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems ...
Beltrão, A.c.s., Figueiredo, Maria Stella, Gil, I.c.p., Lourenco, Dayse Maria, Moreira Neto, F., Morelli, V.m., Noguti, Maria Aparecida Eiko   +6 more
core   +3 more sources

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

Hepato-Renal Protective Potential of Dimethyl Fumarate in Alloxan-Induced Diabetic Mice Model by Modulating of Sirt1, Nrf2 and Inflammatory Genes Expressions. [PDF]

Endocrinol Diabetes Metab
Hepato‐renal protective potential of DMF in alloxan‐induced diabetic mice model. ABSTRACT Aim Despite advances in diabetes treatments, the effects of this disease have not yet been adequately reversed or prevented in patients. Therefore, development of more effective medication‐assisted treatments in this field is needed.
Saberi-Hasanabadi P, Shaki F, Karami M, Bagheri A, Ranaee M, Ataee R.   +5 more
europepmc   +2 more sources

Hemoglobinopathies

, 2021
Hereditary hemoglobin disorders with thalassemia and sickle-cell anemia are the most common monogenic diseases in the world. It is estimated that about 1-5% of the global population is the carriers of a genetic thalassemia mutation. Hemoglobinopathies are among the most common hereditary blood diseases also in Turkey and are an important health problem
Arpacı, Abdullah, Elmacıoğlu, Sibel, Ünlü, Bahar   +2 more
openaire   +1 more source

Is Hemoglobin Variant Analysis Helpful in the Diagnostic Work-up of Patients Revealing Microcytic Erythrocytosis on Complete Blood Count? [PDF]

, 2015
Introduction: Microcytic erythrocytosis is an abnormal CBC (complete blood count) finding that is under-recognized, poorly understood, and consequently under-utilized in patient care. It is characterized by decreased MCV and increased RBC count.
Dulau-Florea, Alina, Gong, MD, Jerald Z., Gulati, Ph.D, Gene, Joneja, MD, Upasana   +3 more
core   +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