Results 171 to 180 of about 186,764 (349)

From Droplet to Diagnosis: Spatio‐Temporal Pattern Recognition in Drying Biofluids

open access: yesAdvanced Intelligent Systems, EarlyView.
This article integrates machine learning (ML) with the spatio‐temporal evolution of biofluid droplets to reveal how drying and self‐assembly encode distinctive compositional fingerprints. By leveraging textural features and interpretable ML, it achieves robust classification of blood abnormalities with over 95% accuracy.
Anusuya Pal   +2 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Iptacopan for Immune Thrombocytopenia and Cold Agglutinin Disease: A Global Phase 2 Basket Clinical Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Iptacopan is a first‐in‐class, oral, selective inhibitor of complement factor B that has demonstrated positive efficacy across several complement‐driven diseases. Here we evaluate the efficacy and safety of iptacopan monotherapy in adult patients with primary immune thrombocytopenia (ITP) and primary cold agglutinin disease (CAD). We performed
Alexander Röth   +13 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Blood Coagulation in Uremic Patients Before and After Hemodialysis and Transplantation of the Kidney [PDF]

open access: yes, 1966
Marchioro, TL   +4 more
core   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Coagulation parameters reference interval for adult population of Debre Berhan town, Northeast Ethiopia. [PDF]

open access: yesThromb J
Kelem A   +9 more
europepmc   +1 more source

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