Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.

Circadian Disruption in Glaucoma: Causes, Consequences, and Countermeasures.

This review explores the intricate relationship between glaucoma and circadian rhythm disturbances. As a principal organ for photic signal reception and transduction, the eye plays a pivotal role in coordinating the body's circadian rhythms through specialized retinal ganglion cells (RGCs), particularly intrinsically photosensitive RGCs (ipRGCs). These cells are critical in transmitting light signals to the suprachiasmatic nucleus (SCN), the central circadian clock that synchronizes physiological processes to the 24-hour light-dark cycle.

EuPtPb and SrPtPb-lead-based intermetallics with YRhSn/NdRhSn-type polyanionic platinum-lead 3D frameworks.

Two platinide plumbides, EuPtPb and SrPtPb, were discovered using high-temperature exploratory synthesis and flux-assisted crystal growth. Their crystal structures were determined from single-crystal X-ray diffraction. Both compounds crystallize in the orthorhombic system; EuPtPb belongs to the YRhSn structure type (2, = 4.

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH).

Background: The gene encodes ATP-dependent RNA helicase SUPV3L1, which is a part of the mitochondrial degradosome complex or SUV3. SUPV3L1 unwinds secondary structures of mitochondrial RNA (mtRNA) and facilitates the degradation of mtRNA molecules. A nonsense homozygous variant in the gene was recently associated with mitochondrial disease.