We describe a novel clinical presentation of a rod-cone dystrophy in a single family. Two boys ages 6 and 12 years presented with clinical and optical coherence tomography features suggestive of X-linked retinoschisis, but with optic nerve swelling without increased intracranial pressure. One patient had an electronegative electroretinogram (ERG) and the other had rod-cone dysfunction. Neither had retinoschisin () gene mutations. Biological mother and sister presented with retinal pigment epithelium (RPE) changes and abnormal cone-rod ERG responses. On further testing, next generation sequencing with array comparative genomic hybridisation showed a deletion in exon 4 of the gene. Cystoid maculopathy in young male children can be difficult to distinguish from -associated schisis. Phenotypic variants within a family must prompt a thorough retinal dystrophy evaluation even with electronegative ERG in the presenting child. This novel phenotype for presents with optic nerve swelling and cystoid maculopathy in men, and RPE changes in women.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094365 | PMC |
| http://dx.doi.org/10.1136/bcr-2019-233711 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
National early warning score 2 plus non-invasive capnography and perfusion index to estimate poor outcomes in emergency departments.
Am J Emerg Med
January 2025
Faculty of Medicine, Universidad de Valladolid, Valladolid, Spain; Emergency Department, Hospital Clínico Universitario, Gerencia Regional de Salud de Castilla y León, Valladolid, Spain.
Background: The study of the inclusion of new variables in already existing early warning scores is a growing field. The aim of this work was to determine how capnometry measurements, in the form of end-tidal CO2 (ETCO2) and the perfusion index (PI), could improve the National Early Warning Score (NEWS2).
Methods: A secondary, prospective, multicenter, cohort study was undertaken in adult patients with unselected acute diseases who needed continuous monitoring in the emergency department (ED), involving two tertiary hospitals in Spain from October 1, 2022, to June 30, 2023.
Zoos must embrace animal death for education and conservation.
Proc Natl Acad Sci U S A
January 2025
Centre for Ecological Dynamics in a Novel Biosphere, Section of EcoInformatics and Biodiversity, Department of Biology, Aarhus University, Aarhus 8000, Denmark.
Smart Imitator: Learning from Imperfect Clinical Decisions.
J Am Med Inform Assoc
January 2025
Institute of Data Science, National University of Singapore, 117602, Singapore.
Objectives: This study introduces Smart Imitator (SI), a 2-phase reinforcement learning (RL) solution enhancing personalized treatment policies in healthcare, addressing challenges from imperfect clinician data and complex environments.
Materials And Methods: Smart Imitator's first phase uses adversarial cooperative imitation learning with a novel sample selection schema to categorize clinician policies from optimal to nonoptimal. The second phase creates a parameterized reward function to guide the learning of superior treatment policies through RL.
A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
View Article and Find Full Text PDFAltering the intracellular trafficking of Necator americanus GST-1 antigen yields novel hookworm mRNA vaccine candidates.
PLoS Negl Trop Dis
January 2025
Department of Pediatrics, National School of Tropical Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Background: The antigen Na-GST-1, expressed by the hookworm Necator americanus, plays crucial biochemical roles in parasite survival. This study explores the development of mRNA vaccine candidates based on Na-GST-1, building on the success of recombinant Na-GST-1 (rNa-GST-1) protein, currently assessed as a subunit vaccine candidate, which has shown promise in preclinical and clinical studies.
Methodology/findings: By leveraging the flexible design of RNA vaccines and protein intracellular trafficking signal sequences, we developed three variants of Na-GST-1 as native (cytosolic), secretory, and plasma membrane-anchored (PM) antigens.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!