Results 31 to 40 of about 18,864 (254)

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

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

Assessment of growth-related hormones in patients with hereditary hemoglobinopathies

, 2022
Background: Hemoglobinopathies are global public health problems affecting developed and non- developed countries with major consequences for human health as well as economic and social development.
Hamid Jaddoa Abbas, Abbas, Hamid Jaddoa, Ghfran A. Kadim, Ibraheem, Shrouk A. Hassan Al., Kadim, Ghfran A., Shrouk A. Hassan Al. Ibraheem   +5 more
core   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

Prevalence of hemoglobinopathies in different regions and castes of Uttar Pradesh, India -A hospital based study

Asian Journal of Medical Sciences, 2015
Background: Thalasemia and other hemoglobinopathies are found in all the states of India and their prevalence is quite variable. In Uttar Pradesh very few studies are found which explore the spectrum of hemoglobinopathies.
Pratima Verma
doaj   +1 more source

Discovery of CRBN‐based molecular glue degraders targeting WIZ transcription factor

Bulletin of the Korean Chemical Society, EarlyView.
This work reports the discovery of 9l, a novel cereblon‐based molecular glue degrader which targets the WIZ transcription factor. Compound 9l facilitates WIZ‐CRBN ternary complex formation to degrade WIZ, subsequently inducing γ‐globin expression in HUDEP‐2 cells and highlighting its potential as a sickle cell disease therapy.
Tae‐Jun Kim, Seongu Seong, Jung‐Ae Kim, Taeyeon Kwon, Hyun Jin Kim, Jeong‐Hoon Kim, Jong Yeon Hwang, Jin Hwa Cho, Kyoungmin Choi   +8 more
wiley   +1 more source

Oral Cryptococcosis due to Naganishia diffluens in a Patient With Thalassemia: A Case Report and a Literature Review

Journal of Clinical Laboratory Analysis, EarlyView.
Naganishia diffluens, a rare non‐neoformans cryptococcal species, was identified by PCR sequencing as the causative agent of oral cryptococcosis in a 31‐year‐old Iranian man with β‐thalassemia. This case represents the first documented instance of oral infection by N.
Zahra Yahyazadeh, Zeynab Haseli, Javad Javidnia, Mahdi Abastabar, Eisa Nazar, Hosein Jalali, Mohamad Taghi Hedayati, Hossein Karami, Mohsen Nosratabadi, Lotfollah Davoodi, Seyyed Reza Aghili, Maryam Moazeni, Iman Haghani, Hamid Badali   +13 more
wiley   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

EVOLUTION OF HEMOGLOBINOPATHY PREVENTION IN AFRICA

Mediterranean Journal of Hematology and Infectious Diseases, 2009
Hemoglobinopathies are a group of inherited hemoglobin disorders. Initially described in the subtropical regions, they are now spread all around the world because of migration.
Slaheddine Fattoum
doaj   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source