Case Report: A Novel Homozygous Variant of the Gene in Rare Pycnodysostosis.

Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion.

Cartilage Laser Engraving for Fast-Track Tissue Engineering of Auricular Grafts.

In this study, the optimal engraving parameters were determined through the analysis of scanning electron microscopy (SEM) data, as follows: a laser power density of 5.5 × 10 W/cm, an irradiation rate of 0.1 mm/s, a well radius of 60 μm, a distance between well centers of 200 μm, and a number of passes for each well of 20.

Constraints on Ultraheavy Dark Matter Properties from Dwarf Spheroidal Galaxies with LHAASO Observations.

In this Letter we try to search for signals generated by ultraheavy dark matter at the Large High Altitude Air Shower Observatory (LHAASO) data. We look for possible γ rays by dark matter annihilation or decay from 16 dwarf spheroidal galaxies in the field of view of the LHAASO. Dwarf spheroidal galaxies are among the most promising targets for indirect detection of dark matter that have low fluxes of astrophysical γ-ray background while having large amount of dark matter.

Imaging the 5-HT receptor with PET: Evaluation of 5-HT and 5-HT affinity of pimavanserin in the primate brain.

Two complimentary techniques were used to estimate occupancy of pimavanserin (a selective 5-HT inverse agonist) to 5-HT and 5-HT receptors in non-human primate brains. One employed the 5-HT selective radioligand [C]CIMBI-36 combined with quantification of binding potentials in brain regions known to be enriched in 5-HT (cortex) or 5-HT (choroid plexus) receptors to estimate occupancy. Pimavanserin was 6-10 fold more potent displacing [C]CIMBI-36 from cortex (ED = 0.

Syndromic epidermolysis bullosa simplex subtype due to mutations in the gene: series of case reports in Russian families.

Objective: Epidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described. The accumulation of clinical descriptions of patients with syndromic subtypes of EBS is important for understanding the natural history of the disease and assessing genotype-phenotype correlations.

Clinical Significance and Patterns of Potential Drug-Drug Interactions in Cardiovascular Patients: Focus on Low-Dose Aspirin and Angiotensin-Converting Enzyme Inhibitors.

: This study assessed the patterns and clinical significance of potential drug-drug interactions (pDDIs) in patients with diseases of the cardiovascular system. : Electronic health records (EHRs), established in 2018-2023, were selected using the probability serial nested sampling method ( = 1030). Patients were aged 27 to 95 years (65.

The Composition of Triterpene Glycosides in the Sea Cucumber : Anticancer Activity of the Glycosides against Three Human Breast Cancer Cell Lines and Quantitative Structure-Activity Relationships (QSAR).

Eight sulfated triterpene glycosides, peronioside A () and psolusosides A (), B (), G (), I (), L (), N () and P (), were isolated from the sea cucumber . Peronioside A () is a new glycoside, while compounds - were found previously in , indicating the phylogenetic and systematic closeness of these species of sea cucumbers. The activity of - against human erythrocytes and their cytotoxicity against the breast cancer cell lines MCF-7, T-47D and triple-negative MDA-MB-231 were tested.

(e)Managing the uncertainty of tuberculosis in the post-Soviet limbo: Tracking prisoners' coerced mobility for treatment in Ukrainian prisons.

The collapse of the Soviet Union triggered an escalation of the tuberculosis (TB) epidemic in many post-Soviet countries, including Ukraine. The main reasons for this situation include both the approach to TB care and the concentration of TB cases in prisons. The neoliberal approach to TB care system reform promises the optimization of treatment terms, "dehospitalization" and "despecialization" of the system of care, and a different type of control, established through digital technologies.

Measurements of All-Particle Energy Spectrum and Mean Logarithmic Mass of Cosmic Rays from 0.3 to 30 PeV with LHAASO-KM2A.

We present the measurements of all-particle energy spectrum and mean logarithmic mass of cosmic rays in the energy range of 0.3-30 PeV using data collected from LHAASO-KM2A between September 2021 and December 2022, which is based on a nearly composition-independent energy reconstruction method, achieving unprecedented accuracy. Our analysis reveals the position of the knee at 3.

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.

Purpose: To present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT.

Methods: PGT was performed for two unrelated couples from the Republic of Sakha (Yakutia) with the risk of SCA1 in one spouse. We have developed a system for PGT of a monogenic disease (PGT-M) for SCA1, which includes the analysis of a panel of 11 polymorphic STR markers linked to the ATXN1 gene and a pathogenic variant of the ATXN1 gene using nested PCR and fragment analysis.

Agent-based models under uncertainty.

Background: Monte Carlo (MC) is often used when trying to assess the consequences of uncertainty in agent-based models (ABMs). However, this approach is not appropriate when the uncertainty is epistemic rather than aleatory, that is, when it represents a lack of knowledge rather than variation. The free-for-all battleship simulation modelled here is inspired by the children's battleship game, where each battleship is an agent.

Gene Variants and Their Role in Metabolic Syndrome: A Study of Patients with Schizophrenia.

Metabolic syndrome (MetS) is common among schizophrenia patients, and one of MetS's causes may be an imbalance in nitric oxide regulation. In this study, we examined associations of three polymorphic variants of the nitric oxide synthase 1 adapter protein () gene with MetS in schizophrenia. NOS1AP regulates neuronal nitric oxide synthase, which controls intracellular calcium levels and may influence insulin secretion.

Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk.

We aimed to explore the potential link of maternal age at menarche (mAAM) gene polymorphisms with risk of the fetal growth restriction (FGR). This case (FGR)-control (FGR free) study included 904 women (273 FGR and 631 control) in the third trimester of gestation examined/treated in the Departments of Obstetrics. For single nucleotide polymorphism (SNP) multiplex genotyping, 50 candidate loci of mAAM were chosen.

Multi-Channel smFRET study reveals a Compact conformation of EF-G on the Ribosome.

While elongation factor G (EF-G) is crucial for ribosome translocation, the role of its GTP hydrolysis remains ambiguous. EF-G's indispensability is further exemplified by the phosphorylation of human eukaryotic elongation factor 2 (eEF2) at Thr56, which inhibits protein synthesis globally, but its exact mechanism is not clear. In this study, we developed a multi-channel single-molecule FRET (smFRET) microscopy methodology to examine the conformational changes of EF-G induced by mutations that closely aligned with eEF2's Thr56 residue.

Comparison of Dentatorubrothalamic Tractography Methods Based on the Anatomy of the Rubral Wing.

Background And Objectives: Precise localization of the dentatorubrothalamic (DRT) tract can facilitate anatomic targeting in MRI-guided high-intensity focused ultrasound (HIFU) thalamotomy and thalamic deep brain stimulation for tremor. The anatomic segment of DRT fibers adjacent to the ventral intermediate nucleus of the thalamus (VIM), referred to as the rubral wing (RW), may be directly visualized on the fast gray matter acquisition T1 inversion recovery. We compared reproducibility, lesion overlap, and clinical outcomes when reconstructing the DRT tract using a novel anatomically defined RW region of interest, DRT-RW, to an existing tractography method based on the posterior subthalamic area region of interest (DRT-PSA).

Sulfated Triterpene Glycosides from the Far Eastern Sea Cucumber : Djakonoviosides C, D, E, and F; Cytotoxicity against Human Breast Cancer Cell Lines; Quantitative Structure-Activity Relationships.

Four new mono- and trisulfated triterpene penta- and tetraosides, djakonoviosides C (), D (), E (), and F () were isolated from the Far Eastern sea cucumber (Cucumariidae, Dendrochirotida), along with six known glycosides found earlier in other species. The structures of unreported compounds were established on the basis of extensive analysis of 1D and 2D NMR spectra as well as by HR-ESI-MS data. The set of compounds contains six different types of carbohydrate chains including two new ones.

Measurement of Ultra-High-Energy Diffuse Gamma-Ray Emission of the Galactic Plane from 10 TeV to 1 PeV with LHAASO-KM2A.

The diffuse Galactic γ-ray emission, mainly produced via interactions between cosmic rays and the interstellar medium and/or radiation field, is a very important probe of the distribution, propagation, and interaction of cosmic rays in the Milky Way. In this Letter, we report the measurements of diffuse γ rays from the Galactic plane between 10 TeV and 1 PeV energies, with the square kilometer array of the Large High Altitude Air Shower Observatory (LHAASO). Diffuse emissions from the inner (15° View Article and Find Full Text PDF

Inter-Rater Reliability of Collateral Status Assessment Based on CT Angiography: A Retrospective Study of Middle Cerebral Artery Ischaemic Stroke.

The importance of assessing the collateral status (CS) in patients with ischaemic stroke (IS) has repeatedly been emphasised in clinical guidelines. Various publications offer qualitative or semiquantitative scales with gradations corresponding to the different extents of the collaterals, visualised mostly on the basis of CTA images. However, information on their inter-rater reliability is limited.

Prescribed Versus Taken Polypharmacy and Drug-Drug Interactions in Older Cardiovascular Patients during the COVID-19 Pandemic: Observational Cross-Sectional Analytical Study.

The study aimed to assess clinical pharmacology patterns of prescribed and taken medications in older cardiovascular patients using electronic health records (EHRs) ( = 704) (2019-2022). Medscape Drug Interaction Checker was used to identify pairwise drug-drug interactions (DDIs). Prevalence rates of DDIs were 73.

Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.

In this study, the association between maternal age at menarche (AAM)-related polymorphisms and offspring birth weight (BW) was studied. The work was performed on a sample of 716 pregnant women and their newborns. All pregnant women underwent genotyping of 50 SNPs of AAM candidate genes.

Djakonoviosides A, A, A, B-B - Triterpene Monosulfated Tetra- and Pentaosides from the Sea Cucumber : The First Finding of a Hemiketal Fragment in the Aglycones; Activity against Human Breast Cancer Cell Lines.

Seven new monosulfated triterpene glycosides, djakonoviosides A (), A (), A (), and B-B (-), along with three known glycosides found earlier in the other species, namely okhotoside A-1, cucumarioside A-1, and frondoside D, have been isolated from the far eastern sea cucumber (Cucumariidae, Dendrochirotida). The structures were established on the basis of extensive analysis of 1D and 2D NMR spectra and confirmed by HR-ESI-MS data. The compounds of groups A and B differ from each other in their carbohydrate chains, namely monosulfated tetrasaccharide chains are inherent to group A and pentasaccharide chains with one sulfate group, branched by C-2 Qui2, are characteristic of group B.

A tera-electron volt afterglow from a narrow jet in an extremely bright gamma-ray burst.

Some gamma-ray bursts (GRBs) have a tera-electron volt (TeV) afterglow, but the early onset of this has not been observed. We report observations with the Large High Altitude Air Shower Observatory (LHAASO) of the bright GRB 221009A, which serendipitously occurred within the instrument's field of view. More than 64,000 photons >0.