Results 191 to 200 of about 2,764,830 (288)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada   +6 more
wiley   +1 more source

Deep Learning‐Assisted Classification of Urinary Red Blood Cell Morphology for Glomerular Hematuria Screening: A Pilot Study

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This retrospective pilot study developed a YOLOv5l‐based deep learning system to detect and classify urinary red blood cells as isomorphic, dysmorphic, or unknown in urine sediment images. The model achieved a precision of 0.84, recall of 0.69, and F1‐score of 0.76 for dysmorphic RBCs, while sample‐level morphology scoring showed preliminary ...
Yih‐Lon Lin   +4 more
wiley   +1 more source

Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet

open access: yesJPGN Reports, EarlyView.
ABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sandra Sala‐Lluch   +5 more
wiley   +1 more source

A large-scale balloon model of confluent cells validates stress inference from geometry. [PDF]

open access: yesNPJ Biol Phys Mech
Hall JK   +7 more
europepmc   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar   +9 more
wiley   +1 more source

Re-evaluating albumin use in traumatic brain injury. [PDF]

open access: yesJ Intensive Care
Vincent JL   +4 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy