Results 231 to 240 of about 44,278 (289)

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Recessive <i>SMC5</i> Variants in a Family with Near-Tetraploidy/Mosaic Variegated Aneuploidy. [PDF]

Diagnostics (Basel)
Yang Y, Li N, Liu C, Li S, Tu M, Zhao L, Shen F, Zheng Y, Wang H, Zhao S.   +9 more
europepmc   +1 more source

Clinical Utility of Frailty Scoring in Elderly Acute Myeloid Leukemia Patients Treated With Venetoclax and Hypomethylating Agents

European Journal of Haematology, EarlyView.
ABSTRACT Acute myeloid leukemia (AML) in elderly patients presents a major therapeutic challenge, as many are deemed unfit for intensive chemotherapy due to age, comorbidities, or frailty. Venetoclax in combination with hypomethylating agents (HMA) has emerged as a standard‐of‐care for this population, yet outcomes remain heterogeneous and predictive ...
Ernesto Vigna, Antonella Bruzzese, Enrica Antonia Martino, Andrea Corsonello, Santino Caserta, Caterina Labanca, Francesco Mendicino, Eugenio Lucia, Virginia Olivito, Nicola Amodio, Fortunato Morabito, Massimo Gentile   +11 more
wiley   +1 more source

Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation. [PDF]

Mol Cytogenet
Del Águila MDM, Bernal M, Vílchez JR, Romero B, Castilla JA, Álvarez G, Clavero A, Poyatos A, Ruíz-Cabello F.   +8 more
europepmc   +1 more source

Improvements in Real‐World Survival in the Setting of a Recent Paradigm Shift in Acute Myeloid Leukemia Treatment

European Journal of Haematology, EarlyView.
ABSTRACT Therapeutic options for newly diagnosed (ND) acute myeloid leukemia (AML) have increased in recent years, leading to a shift in the treatment paradigm from conventional, intensive chemotherapy toward targeted and less intensive therapy. Since 2017, there has been a surge in FDA approvals for novel therapies, including small molecule inhibitors
Thuy N. Ho, Patrick Willard, Graeme F. Murray, Li Liu, Nolan Wages, Hyun Lee, Keri R. Maher   +6 more
wiley   +1 more source

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses. [PDF]

BMC Med Genomics
Deng Y, Zeng L, Wu Z, Wang J, Ye M, Chen C, Wei P, Wang D, Deng G, Zhu S.   +9 more
europepmc   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder. [PDF]

Brain Behav
Giorlandino C, Margiotti K, Fabiani M, Mesoraca A, D'Emidio L, Raffio R, Coco C, Mastrandrea ML, Pasquale C, Cupellaro M, Giorlandino F, Pignataro F, Milite V.   +12 more
europepmc   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders. [PDF]

J Inherit Metab Dis
Lorino M, Qiu B, Bigger B.
europepmc   +1 more source

Molecular profile of atypical Leydig cell tumours

Histopathology, EarlyView.
Copy number variations by themselves are not sufficient to discriminate between benign and potential malignant Leydig cell tumours (LCTs). Genomic instability was only detected in malignant and atypical cases, and not in any benign tumours. Currently, the presence of metastasis remains the only malignant criterion for LCTs.
Muhammad F.K. Choudhry, Diogo Caires, Yaser Gamallat, Asli Yilmaz, Fadi Brimo, Bob Argiropoulos, Tarek A. Bismar   +6 more
wiley   +1 more source