Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

Background: Niemann-Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicentre, prospective observational study (Clinical Trials.gov ID: NCT02435030) of individuals with genetically confirmed NPC1 or NPC2 receiving routine clinical care was conducted, to prospectively characterize and measure NPC disease progression and to investigate potential NPC-related biomarkers versus healthy individuals.

Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

Purpose: This study aimed to present the efficacy and safety of cenegermin eye drop (Oxervate; Dompè Farmaceutici, Milan, Italy) treatment in a pediatric patient affected by neurotrophic keratopathy (NK) with Goldenhar syndrome.

Methods: This case reports an infant presenting ulceration and a small central opacity in the cornea of the right and left eyes, respectively. The NK bilaterally worsened despite the use of therapeutic contact lenses and temporary partial tarsorrhaphy.

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center's Experience.

Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics.

Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination every 4-6 months by ophthalmologists, nephrologists and other required specialists.

Acute Myocardial Infarction Identified by Paramedics Using the Smith-Modified Sgarbossa Criteria: A Case Report.

Identifying acute MI in the setting of left bundle branch block (LBBB) is challenging because ST-segment elevation is often found at baseline. When faced with LBBB and ischemic symptoms, identifying which patients require urgent reperfusion therapy is critical. Sgarbossa et al.

Early Impact of COVID-19 Outbreak on the Availability of Cornea Donors: Warnings and Recommendations.

Keratoplasty is one of the irreplaceable treatment options for corneal diseases. Currently, there is no evidence to substantiate that harvested corneal grafts from COVID-19 patients can contain SARS-CoV-2 virus and lead to a systemic infection. Although the risk of transmission through corneal stromal tissue is low, it potentially exists.

Secondary Vitrectomy with Internal Limiting Membrane Plug due to Persistent Full-Thickness Macular Hole OCT-Angiography and Microperimetry Features: Case Series.

Purpose: To study the features in OCT-angiography and microperimetry in eyes with persistent full-thickness macular hole (FTMH) closed with the secondary plana vitrectomy (PPV) with autologous internal limiting membrane (ILM) plug.

Methods: Secondary PPV was performed with closing the persistent FTMH with ILM plug, CF tamponade, and face-down positioning. Four patients were followed for 6 months with best corrected visual acuity (BCVA) measurement, SD-OCT and OCT-A, and microperimetry.

Changes of Ocular Dimensions as a Marker of Disease Progression in a Murine Model of Pigmentary Glaucoma.

Purpose: The elevation of intraocular pressure (IOP), a major risk factor in glaucoma, is an important parameter tracked in experimental models of this disease. However, IOP measurement in laboratory rodents is challenging and may not correlate with some key pathological events that occur in the development of glaucoma. The aims of this study were to quantify changes in ocular morphology in DBA/2J mice that develop spontaneous, age-dependent, pigmentary glaucoma and to check the possible correlation of these parameters with IOP.

Prevalence of Ocular Demodicosis and Ocular Surface Conditions in Patients Selected for Cataract Surgery.

The aim of the study was to analyze the prevalence of ocular demodicosis and ocular surface conditions in patients selected for cataract surgery. Eyelashes from 73 patients selected for cataract surgery were evaluated at × 40 and × 100 magnification using light microscopy. The anterior segment was assessed with the slit lamp.

Early impact of COVID-19 outbreak on eye care: Insights from EUROCOVCAT group.

The recent outbreak of coronavirus disease 2019 (COVID-19) has been declared a public health emergency worldwide. The scientific community has put in much effort and published studies that described COVID-19's biology, transmission, clinical diagnosis, candidate therapeutics, and vaccines. However, to date, only a few data are available on the impact of COVID-19 pandemic on ophthalmological care in different health care systems, its future consequences in terms of disability, and access to sight-saving cures for many patients.

Pseudoirreversible slow-binding inhibition of trypanothione reductase by a protein-protein interaction disruptor.

Background And Purpose: Peptide P4 was described as a dimerization disruptor of trypanothione reductase (TryR), a homodimeric enzyme essential for survival of trypanosomatids. Determination of the true inhibitory constant (K ) for P4 was not achieved because reaction rates continuously decreased with time, even when substrate concentration was kept constant. The aim of this study was to find a suitable kinetic model that could allow characterization of the complex pattern of TryR inhibition caused by P4.

Factors predicting normal visual acuity following anatomically successful macular hole surgery.

Purpose: To assess the incidence of normal vision following anatomically successful macular hole surgery and associated clinical variables.

Methods: Multicentre, retrospective chart review. Preoperative, intraoperative and postoperative clinical data were extracted from electronic medical records from seven European vitreoretinal units.

Decreased Equilibrative Nucleoside Transporter 1 (ENT1) Activity Contributes to the High Extracellular Adenosine Levels in Mesenchymal Glioblastoma Stem-Like Cells.

Glioblastoma multiforme is one of the most malignant types of cancer. This is mainly due to a cell subpopulation with an extremely aggressive potential, called glioblastoma stem-like cells (GSCs). These cells produce high levels of extracellular adenosine which has been associated with increased chemoresistance, migration, and invasion in glioblastoma.

MicroRNAs in the Vitreous Humor of Patients with Retinal Detachment and a Different Grading of Proliferative Vitreoretinopathy: A Pilot Study.

Purpose: Although the expression of microRNAs (miRNAs) in retinal pigment epithelial (RPE) cells undergoing epithelial-mesenchymal transition (EMT) is involved in the pathogenesis of proliferative vitreoretinopathy (PVR), its expression in the vitreous of patients with primary retinal detachment (RD) and different PVR grading has not yet been investigated. We assessed the expression of miRNAs in the vitreous humor (VH) of patients diagnosed with RD and different grading of PVR.

Methods: The VH was extracted from the core of the vitreous chamber in patients who had undergone standard vitrectomy for primary RD.

How to Handle Concomitant Asymptomatic Prosthetic Joints During an Episode of Hematogenous Periprosthetic Joint Infection, a Multicenter Analysis.

Background: Prosthetic joints are at risk of becoming infected during an episode of bacteremia, especially during Staphylocococcus aureus bacteremia. However, it is unclear how often asymptomatic periprosthetic joint infection (PJI) occurs, and whether additional diagnostics should be considered.

Methods: In this multicenter study, we retrospectively analyzed a cohort of patients with a late acute (hematogenous) PJI between 2005-2015 who had concomitant prosthetic joints in situ.

Fast and Slow-Growing Management Systems: Characterisation of Broiler Caecal Microbiota Development throughout the Growing Period.

Caecal microbiota and its modulation play an important role in poultry health, productivity and disease control. Moreover, due to the emergence of antimicrobial-resistant bacteria, society is pressing for a reduction in antibiotic administration by finding effective alternatives at farm level, such as less intensified production systems. Hence, the aim of this study was to characterise the caecal microbiota in two different broiler management systems, fast and slow-growing, using 16S rRNA sequencing analysis.

Point-of-care ultrasound by the pediatrician in the diagnosis and follow-up of community-acquired pneumonia.

Objectives: To review, analyze, and present the available evidence on the usefulness of point-of-care pulmonary ultrasound in the diagnosis and monitoring of community-acquired pneumonia (CAP), aiming to facilitate its potential inclusion into pediatric clinical reference guidelines.

Source Of Data: A non-systematic research was carried out in the MEDLINE (PubMed), LILACS, and SciELO databases, from January 1985 to September 2019. The articles that were considered the most relevant were selected.

High diversity and variability of pipolins among a wide range of pathogenic Escherichia coli strains.

Self-synthesizing transposons are integrative mobile genetic elements (MGEs) that encode their own B-family DNA polymerase (PolB). Discovered a few years ago, they are proposed as key players in the evolution of several groups of DNA viruses and virus-host interaction machinery. Pipolins are the most recent addition to the group, are integrated in the genomes of bacteria from diverse phyla and also present as circular plasmids in mitochondria.

Holistic assessment of the microbiome dynamics in the substrates used for commercial champignon (Agaricus bisporus) cultivation.

Microorganisms strongly influence and are required to generate the selective substrate that provides nutrients and support for fungal growth, and ultimately to induce mushroom fructification under controlled environmental conditions. In this work, the fungal and bacterial microbiota living in the different substrates employed in a commercial crop (compost phase I, II and III, flush 1 and 2, and casing material on day 1, 6 and 8 after compost casing and during flush 1 and 2) have been characterized along the different stages of cultivation by metataxonomic analysis (16S rRNA and ITS2), analysis of phospholipid fatty acid content (PLFAs) and RT-qPCR. Additionally, laccase activity and the content of lignin and complex carbohydrates in compost and casing have been quantified.

Large granular lymphocyte leukemia serum and corresponding hematological parameters reveal unique cytokine and sphingolipid biomarkers and associations with STAT3 mutations.

Large granular lymphocyte (LGL) leukemia is a rare hematological disorder with expansion of the T-cell or natural killer (NK) cell lineage. Signal transducer and activator of transcription 3 (STAT3) exhibits somatic activating mutations in 30%-40% of LGL leukemia cases. Transcriptional targets of STAT3 include inflammatory cytokines, thus previous studies have measured cytokine levels of LGL leukemia patients compared to normal donors.

Pathways for horizontal gene transfer in bacteria revealed by a global map of their plasmids.

Plasmids can mediate horizontal gene transfer of antibiotic resistance, virulence genes, and other adaptive factors across bacterial populations. Here, we analyze genomic composition and pairwise sequence identity for over 10,000 reference plasmids to obtain a global map of the prokaryotic plasmidome. Plasmids in this map organize into discrete clusters, which we call plasmid taxonomic units (PTUs), with high average nucleotide identity between its members.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres.

Antimicrobial resistance and virulence of Pseudomonas spp. among healthy animals: concern about exolysin ExlA detection.

Pseudomonas is a ubiquitous genus that also causes human, animal and plant diseases. Most studies have focused on clinical P. aeruginosa strains from humans, but they are scarce on animal strains.

Prevalence of Dental Caries in 12-Year-Olds in San Pedro de Macorís, DR.

Objective: Dental caries is one of the most prevalent chronic diseases in children. Currently, no data are available on dental caries prevalence in the Dominican Republic. The purpose of this study was to estimate the prevalence of dental caries in schoolattending 12-year-olds in San Pedro de Macorís, Dominican Republic.