Defining a Subgroup of Myelodysplastic Syndrome Patients With Very Poor-Risk Cytogenetics Demonstrating a Relatively More Favorable Outcome After Allogeneic Hematopoietic Cell Transplantation. [PDF]
Poiré X +19 more
europepmc +1 more source
ABSTRACT Acute myeloid leukaemia (AML) in older or unfit patients is commonly treated with hypomethylating agents (HMA) plus venetoclax (VEN), but prolonged VEN exposure often causes substantial haematological toxicity. We retrospectively analysed 61 elderly AML patients treated with HMA + VEN for 7 (7d), 14 (14d) or > 14 days (> 14d) per cycle.
Laurenz Steiner +12 more
wiley +1 more source
Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience. [PDF]
Alpay V, Ersan F, Boza B, Makul M.
europepmc +1 more source
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley +1 more source
Favorable Response to Immunosuppressive Therapy in Severe Aplastic Anemia With Trisomy 8 and BCOR Mutation: Sustained Hematologic Response Despite Evolving Mutational Profile-A Case Report. [PDF]
Shen M +6 more
europepmc +1 more source
TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga +15 more
wiley +1 more source
Case Report: Deciphering a <i>de novo</i> complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing. [PDF]
Cheng Q +6 more
europepmc +1 more source
Cutaneous involvement by myeloid leukaemias: challenging cases with important implications
Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley +1 more source
Clinical phenotype, gonadal development, and comorbidity spectrum in 43 children with triple X syndrome: a single-center retrospective descriptive case series with cytogenetic refinement in patients with and without X-monosomy-containing cell lines. [PDF]
Feng YQ, Li WT, Zou HY, Xu QB, Yang L.
europepmc +1 more source
Summary of the clinical characteristics and 2‐year follow‐up of patients with HS and concomitant DS in a multicentre Italian cohort, highlighting earlier HS onset, clinical features, and improved disease severity, quality of life, and pain over follow‐up, supporting early screening and multidisciplinary care of this special population.
Chiara Moltrasio +34 more
wiley +1 more source

