Results 111 to 120 of about 34,912 (203)

An Integrated Genotyping Strategy for α/β‐Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA

Journal of Clinical Laboratory Analysis, Volume 40, Issue 7, April 2026.
We have developed an integrated mRNA‐based strategy for thalassemia genotyping. Its characteristics included using only three Sanger sequencing reactions to analyze the full‐length coding sequence of HBA2, HBA1 and HBB, and employing a new multiple quantitative fluorescence PCR to simply assess and present the impact of common mutations on the ...
Hongjian Chen, Qi Yao, Mianai Fu
wiley   +1 more source

Application of electrospray triple quadrupole mass spectrometry in assessing thalassemia in a population

Indian Journal of Pathology and Microbiology
Introduction: Thalassemia is widely prevalent in Asian countries and the Middle East region of the world. While the prevalence of α thal is around 5-20% in the population, the incidence of β thal is around 3-4%.
Deepalakshmi D. Putchen, Athira Nambiar, Ashwini Bijur, Nelson Amirtharaj, Sujay Ramaprasad   +4 more
doaj   +1 more source

Genome Editing with Crispr-Cas9 Systems: Basic Research and Clinical Applications [PDF]

, 2017
BACKGROUND: Recently established genome editing technologies will open new avenues for biological research and development. Human genome editing is a powerful tool which offers great scientific and therapeutic potential.CONTENT: Genome editing using the ...
Dewi, N. M. (Nurrani), Meiliana, A. (Anna), Wijaya, A. (Andi)   +2 more
core   +4 more sources

Effect of Tonsillar Retractor on Intracranial and Intraocular Pressure in Children Undergoing Adenotonsillectomy Surgeries

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 2, April 2026.
The effect of tonsillar retractor placement on IOP and ONSD values. ABSTRACT Objectives The tonsillar retractor used during adenotonsillectomy, one of the most common pediatric surgeries, may increase sympathetic activity. This study aimed to evaluate the effect of tonsillar retractor insertion on intracranial pressure (ICP) and intraocular pressure ...
Ayse Bozkurt Oflaz, Meltem Isık, Merih Onal, Mete Kaan Bozkurt, Ozkan Onal, Banu Bozkurt   +5 more
wiley   +1 more source

Hemoglobin Subunit-Subunit Affinity-Determinant of Hemoglobin Formation [PDF]

, 1989
Hemoglobin A₂ is often elevated in β-thalassemia and decreased in α-thalassemia. This might be due to hemoglobin subunit-subunit affinity variation. It has been inferred from the study of abnormal hemoglobins that the a subunits have higher affinity for ...
Carter, Inge R., Mansouri, Ali
core   +2 more sources

Isocitrate Dehydrogenase‐Mutant Astrocytomas: Risk Stratification and Therapeutic Advance

MedComm, Volume 7, Issue 4, April 2026.
This graphical abstract synthesizes the core logic of our revised review by linking integrated diagnosis, risk stratification, and trajectory‐based management in IDH‐mutant astrocytomas across CNS WHO Grades 2–4. It highlights lineage‐defining molecular classification (IDH mutation with core co‐alterations), integrated histomolecular grading, and key ...
Shepeng Wei, Xuxu Xu, Jing Bao, Zhenjiang Pan   +3 more
wiley   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, Volume 48, Issue 2, Page 295-304, April 2026.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Microscopy with ultraviolet surface excitation for rapid slide-free histology. [PDF]

, 2017
Histologic examination of tissues is central to the diagnosis and management of neoplasms and many other diseases, and is a foundational technique for preclinical and basic research.
Bishop, John, Borowsky, Alexander D, Demos, Stavros G, Fereidouni, Farzad, Harmany, Zachary T, Kintner, John A, Lechpammer, Mirna, Levenson, Richard, McPherson, John D, Tian, Miao, Todd, Austin   +10 more
core   +2 more sources

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, Volume 48, Issue 2, Page 458-465, April 2026.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Lessons learnt from the first controlled human malaria infection study conducted in Nairobi, Kenya [PDF]

, 2015
BACKGROUND: Controlled human malaria infection (CHMI) studies, in which healthy volunteers are infected with Plasmodium falciparum to assess the efficacy of novel malaria vaccines and drugs, have become a vital tool to accelerate vaccine and drug ...
Amina Salim, Andrew O Cole, Bernhards Ogutu, Brett Lowe, Caroline Ogwang, Charles Magiri, Daniel Njenga, Elizabeth Juma, Faith Osier, Ken Awuondo, Kevin Marsh, Patricia Njuguna, Peter F Billingsley, Roma Chilengi, Sassy Molyneux, Simon J Draper, Stephen L Hoffman, Susanne H Hodgson   +17 more
core   +1 more source