Results 131 to 140 of about 147,278 (254)

Pulmonary Embolism in Patients with Lung Cancer: Incidence and Performance of Prognostic Markers. [PDF]

open access: yesCancers (Basel)
Tannura F   +6 more
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

open access: yesThe Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan   +9 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

Interventions and Perinatal Outcomes Associated With Recipient Twin Cardiomyopathy in the Setting of Twin‐To‐Twin Transfusion Syndrome: A Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine (1) Whether the presence and severity of recipient twin cardiomyopathy in the setting of twin‐to‐twin transfusion syndrome are associated with worse perinatal outcomes when compared to recipient twins without evidence of cardiomyopathy and (2) The optimal management strategy to reduce the likelihood of adverse perinatal ...
Briana Tolbert   +7 more
wiley   +1 more source

Clinical Outcomes and Acute Exacerbation Incidence in Combined Pulmonary Fibrosis and Emphysema

open access: yesRespirology, EarlyView.
This multicentre prospective study of 1016 patients demonstrated that CPFE, defined as ≥ 5% emphysema on visual CT assessment, identified a high‐risk phenotype with significantly worse 5‐year survival compared to non‐CPFE IIP patients (51.4% vs. 63.1%) and COPD patients (51.4% vs. 84.0%) and higher acute exacerbation incidence, validating international
Kazuya Tsubouchi   +23 more
wiley   +1 more source

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