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J Optom
January 2025
Department of Ophthalmology, Peking University People's Hospital, Beijing, China; Eye Diseases and Optometry Institute, Beijing, China; Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China; College of Optometry, Peking University Health Science Center, Beijing, China.
Purposes: To investigate the 12-month effectiveness of Diverse Segmented Defocus Optics (DSDO) and Defocus Incorporated Multiple Segments (DIMS) spectacle lenses in a real-world clinical population in myopic and pre-myopic Chinese children.
Methods: About 364 subjects prescribed DSDO or DIMS were enrolled. Axial length (AL) and cycloplegic spherical equivalent refraction (SER) changes over 12 months were measured.
Br J Hosp Med (Lond)
November 2024
Ophthalmology Department, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.
Placenta
January 2025
Department of Obstetrics and Gynecology, Showa University Northern Yokohama Hospital, Yokohama, Kanagawa, Japan.
Introduction: We evaluated the impact of absent end-diastolic flow in the umbilical artery (UA-AEDF) in severe small for gestational age (SGA) cases.
Methods: This retrospective cohort study focused on fetuses with severe SGA (defined as birth weight ≤2.5 SD).
Eur J Hum Genet
November 2024
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
De novo synthesis of purines (DNPS) is a biochemical pathway that provides the purine bases for synthesis of essential biomolecules such as nucleic acids, energy transfer molecules, signaling molecules and various cofactors. Inborn errors of DNPS enzymes present with a wide spectrum of neurodevelopmental and neuromuscular abnormalities and accumulation of characteristic metabolic intermediates of the DNPS in body fluids and tissues. In this study, we present the second case of PAICS deficiency due to bi-allelic variants of PAICS gene encoding for a missense p.
View Article and Find Full Text PDFFront Cell Neurosci
November 2024
Henan Provincial People's Hospital, People's Hospital of Henan University, People's Hospital of Zhengzhou University, Zhengzhou, China.
Background And Purpose: Infantile cerebellar retinal degeneration (ICRD) (OMIM #614559) is a rare autosomal recessive inherited disease associated with mutations in the aconitase 2 (ACO2) gene. We report a Chinese girl with novel compound heterozygous variants in , who presented at 7 months of age with psychomotor retardation, truncal hypotonia, and ophthalmologic abnormalities. This study aims to investigate the potential molecular mechanisms underlying deficiency-induced neuropathy.
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