Results 181 to 190 of about 82,211 (293)

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

Correlation Between Dosimetric Parameters and Hematologic Toxicity in Cervical Cancer Patients Undergoing Intensity-Modulated Pelvic Radiotherapy. [PDF]

Cancers (Basel)
Zhao S, Yang X, Zhang L, Yang D, Yang X, Wang R, Jia S, An J, Huang M.   +8 more
europepmc   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Comparative Analysis of Potential Side Effects of Targeted Oral Hypoglycemic Agents Using Spontaneous Adverse Event Reports and Social Media Data

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Aim Adverse events (AEs) detected in tweets and in the FDA Adverse Event Reporting System (FAERS) provide valuable insights into patient experiences with oral hypoglycemic agents including sodium‐glucose transporter 2 (SGLT2) and dipeptidyl peptidase‐4 (DPP4) inhibitors. This study compared the side effects identified from tweets with those in
Se‐Hoon Oh, Dong‐Young Park, Yun‐Kyoung Song   +2 more
wiley   +1 more source

Efficacy and safety of letermovir for cytomegalovirus prophylaxis in thoracic organ transplantation: a systematic review and meta-analysis. [PDF]

BMC Infect Dis
Aldalati AY, Hussein AM, Aldalati K, Hammadeh BM, Alrabadi B, Al-Dabagh A, Albliwi M, Abuassi M, Rawashdeh B.   +8 more
europepmc   +1 more source

The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening

Reviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT The most common infectious disease responsible for paediatric developmental disability is congenital infection with human cytomegalovirus (cCMV). Many serious sequelae are caused by cCMV, including microcephaly, intracranial calcifications, neuronal migration defects, seizure disorders, developmental delay, and sensorineural hearing loss (SNHL)
Emily R. Harrison, W. Charles Huskins, Mark R. Schleiss   +2 more
wiley   +1 more source

GATA2 Deficiency Syndrome: A Case Series and Literature Review. [PDF]

J Clin Immunol
Dong Z, Lai J, Li J, Du Y, Lin L, Chen R, Gong M, Zhuansun Y.   +7 more
europepmc   +1 more source

Real‐World Effectiveness and Safety of Upadacitinib in Crohn's Disease: Insights From the Eneida Registry

United European Gastroenterology Journal, Volume 14, Issue 4, May 2026.
ABSTRACT Background Upadacitinib (UPA) is the first oral Janus kinase (JAK) inhibitor approved for the treatment of Crohn's disease (CD). Real‐world data, particularly from large nationwide cohorts, remain limited. This study aimed to evaluate the real‐world effectiveness, safety, and treatment persistence of UPA in patients with CD.
M. Iborra, B. Botella, M. D. Martín‐Arranz, D. Ceballos, C. Martínez‐Pascual, A. Garrido, P. Varela, M. Moreta, E. Brunet‐Mas, Y. González‐Lama, E. Rodríguez‐González, M. Vicuña, J. P. Gisbert, I. Ordás, F. Argüelles‐Arias, J. Tosca‐Cuquerella, R. Vicente‐Lidón, M. Sierra‐Ausín, I. Rodríguez‐Lago, D. Martín‐Rodríguez, J. M. Paredes, B. Sicilia, I. García de la Filia, N. Jiménez, M. Barreiro‐de Acosta, E. Betoré, I. Ferrer‐Bradley, L. García‐Alles, J. M. Huguet, S. Castellet‐Farrús, M. J. García, A. Gutiérrez‐Casbas, Á. Ponferrada‐Díaz, L. Ramos, M. Calafat, I. Vera, C. Suárez‐Ferrer, E. Fernández‐Velado, S. Rodríguez‐Sánchez, A. Mínguez, A. Mancebo, J. Barrio, S. Lario, D. R. de La Cruz, Alejandro Hernández‐Camba, C. Rodríguez‐Gutiérrez, M. Chaparro, E. Ricart, L. Almenara‐Michelena, A. Balaguer, E. Domènech, P. Nos   +51 more
wiley   +1 more source

Evaluation of Selected Brain Damage Biomarkers in the Determination of Brain Damage in Dogs With Neurological Distemper

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
In this study, a significant increase in serum NSE, GFAP, CK‐B, IgM and IgM concentrations was determined in dogs with nervous distemper. It was shown that NSE, GFAP and CK‐B biomarkers have a useful and reliable diagnostic value in determining brain damage in dogs with nervous distemper .
Muhammed Mustafa Kapar, Mahmut Ok, Oğuzhan Avcı   +2 more
wiley   +1 more source

Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody-drug conjugate in breast cancer. [PDF]

Oncol Rev
Sofianidi AA, Papatheodoridi A, Dimitrakakis C, Marinopoulos S, Michalaki V, Zagouri F.   +5 more
europepmc   +1 more source