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Familial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.
Cornea
January 2025
Department of Ophthalmology, Edith Wolfson Medical Center, Holon, Israel.
Purpose: To present 4 family members with posterior polymorphous corneal dystrophy (PPCD), nonkeratoconic steep corneas, and myopia caused by a previously unknown genetic alteration in the ZEB1 gene.
Methods: Ophthalmic examinations and corneal curvature analyses were performed for all patients. Whole-exome targeted gene panel sequencing was performed for 1 patient.
Prevalence and Clinical Associations of Peripapillary Hyperreflective Ovoid Mass-like Structures in Craniosynostosis.
J Neuroophthalmol
January 2025
Department of Ophthalmology (JGJ-C, TE, Y-HC, LRD, RAG), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Frank H. Netter Medical School (JGJ-C), North Haven, Connecticut; and Department of Anesthesiology (DZ), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Patients with craniosynostosis are at high risk of developing elevated intracranial pressure (ICP) causing papilledema and secondary optic atrophy. Diagnosing and monitoring optic neuropathy is challenging because of multiple causes of vision loss including exposure keratopathy, amblyopia, and cognitive delays that limit examination. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are an optical coherence tomography (OCT) finding reported in association with papilledema and optic neuropathy.
View Article and Find Full Text PDFFetal Cardiac Function and Remodeling in In Vitro Fertilization Pregnancies: A Tertiary Center Experience.
Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
Chitosan-DNA nanoparticles: synthesis and optimization for long-term storage and effective delivery.
PeerJ
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Department of Biology, School of Sciences and Humanities, Nazarbayev University, Astana, Kazakhstan.
Background: Chitosan nanoparticles (CsNPs) are an effective and inexpensive approach for DNA delivery into live cells. However, most CsNP synthesis protocols are not optimized to allow long-term storage of CsNPs without loss of function. Here, we describe a protocol for CsNP synthesis, lyophilization, and sonication, to store CsNPs and maintain transfection efficiency.
View Article and Find Full Text PDFVision impairment in boys recruited to the iREAD study.
Isr J Health Policy Res
January 2025
Department of Optometry, Hadassah Academic College, 9101001, Jerusalem, Israel.
Background: Uncorrected refractive error is reported to be the most common cause globally of vision impairment in school age children. However, little is known about the extent of uncorrected refractive error in Israel. The purpose of this study was to investigate the prevalence of vision impairment in schoolchildren recruited for the Israel Refraction, Environment, And Devices (iREAD) Study.
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