Results 41 to 50 of about 77,213 (201)

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

open access: yesClinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson   +22 more
wiley   +1 more source

Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion

open access: yesJournal of Cutaneous Pathology, EarlyView.
ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong   +5 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa   +19 more
wiley   +1 more source

Mainstream or special secondary school for the health, education, and well‐being of adolescents with Down syndrome: A systematic review

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This systematic review identified three studies comparing education, health, social, and self‐care outcomes among adolescents with Down syndrome who attended either mainstream or special secondary school. Two studies reported improved education outcomes among adolescents in mainstream secondary school.
Julia Shumway   +4 more
wiley   +1 more source

Polycythemia Vera and Essential Thrombocythemia: A Nationwide Population‐Based Study on Treatment Patterns, Vascular Complications and Survival

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Background Polycythemia vera (PV) and essential thrombocythemia (ET) are associated with a well‐recognized increased risk of thrombotic events, bleeding, and all‐cause mortality, but the frequency of these outcomes during treatment has rarely been assessed in large cohorts.
Anneli Enblom Larsson   +5 more
wiley   +1 more source

Non-myeloablative conditioning with allogeneic hematopoietic cell transplantation for the treatment of high-risk acute lymphoblastic leukemia

open access: yesHaematologica, 2011
Background Allogeneic hematopoietic cell transplantation is a potentially curative treatment for patients with acute lymphoblastic leukemia. However, the majority of older adults with acute lymphoblastic leukemia are not candidates for myeloablative ...
Ron Ram   +12 more
doaj   +1 more source

Hematopathology Practice in the Digital Era: What has Changed?

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematopathology workflows are complex, since they include numerous data points necessary for guiding further testing, diagnosis, and patient management. The workflows start with complete blood cell counts, with subsequent morphologic evaluation of peripheral blood (PB) and bone marrow (BM).
Olga Pozdnyakova
wiley   +1 more source

Reliability Evaluation of Fluorescence In Situ Hybridization (FISH) and G-Banding on Bone Marrow and Peripheral Blood Cells in Chronic Myelogenous Leukemia Patients [PDF]

open access: yesCell Journal, 2015
Chronic myeloid leukemia (CML) is a myeloproliferative disease. The cytogenetic hallmark of CML is Philadelphia (Ph) chromosome. This study aimed to diagnose suspected CML patients, to monitor CML patients under therapy using cytogenetic and ...
Soheila Manaflouyan Khajehmarjany   +4 more
doaj  

Clinicopathological Analysis and Survival Outcomes of Radiation‐Induced Oral Squamous Cell Carcinoma: A Systematic Review and Meta‐Analysis

open access: yesJournal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Radiotherapy‐induced malignancies are well‐documented, but the clinicopathological profile and prognostic factors of radiation‐induced oral squamous cell carcinoma (R‐OSCC) remain unclear. Methods The present review was conducted in accordance with the PRISMA guidelines and has been registered in the PROSPERO (registration number ...
Anne Evelyn Oliveira Moura   +9 more
wiley   +1 more source

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