Results 21 to 30 of about 44,893 (265)

Premature Ovarian Insufficiency in a Patient With Vogt–Koyanagi–Harada Syndrome: An Unusual Association—A Case Report

Case Reports in Medicine
Premature ovarian insufficiency (POI) is a clinical syndrome characterized by ovarian failure in women of reproductive age before the age of 40 years. Its main manifestations include menstrual cycle disturbances, such as oligomenorrhea or amenorrhea. The
Ruan Barboza Rocha, Denise Corrêa Benzaquem, Paloma de Sousa Passos, Evellyn Karine Cruz da Silva, Jadiele Barbosa Mendonça, Paula Rita Leite da Silva, Jorge Frank Braga Ferreira, Cleiton Fantin   +7 more
doaj   +1 more source

Occurrence of Extramedullary Relapses in Pediatric Acute Lymphoblastic Leukemia After Treatment With Blinatumomab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We report a retrospective single‐center analysis of pediatric patients with relapsed or refractory B‐cell precursor acute lymphoblastic leukemia focusing on relapses outside of the typical locations, bone marrow, central nervous system, or testes.
Johanna Kunz, Martin Ebinger, Michaela Döring, Markus Mezger, Ursula Holzer, Rupert Handgretinger, Peter Lang, Manon Queudeville   +7 more
wiley   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages

The Pan African Medical Journal, 2017
Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM.
Wiem Ayed, Islem Messaoudi, Zouhour Belghith, Wajih Hammami, Imen Chemkhi, Nabila Abidli, Helmy Guermani, Rim Obay, Ahlem Amouri   +8 more
doaj   +1 more source

BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

Blood Advances, 2016
: We report here on a case of ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia (B-ALL) that has acquired a BCR-ABL1 gene rearrangement as a subclonal change.
Karen A. Dun, Rob Vanhaeften, Tracey J. Batt, Louise A. Riley, Giuseppe Diano, Jan Williamson   +5 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Cytogenetic findings at Down syndrome and their correlation with clinical findings

Biomolecules & Biomedicine, 2005
Down syndrome is a genetic state characterized by trisomy of chromosome 21. In the retrospective study for 12 years period (1991-2002) we have conducted correlation between cytogenetics analyses and clinical findings in our centre at 96 male and 83 ...
Amra Ćatović, Sulejman Kendić
doaj   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, EarlyView.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source