The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The ...objective of this study was to determine the frequency of C9orf72 repeat expansions in a Bulgarian dementia cohort and to delineate the associated clinical features.
PCR-based assessments of the C9orf72 hexanucleotide repeat expansion in all study samples (including 82 FTD, 37 Alzheimer's disease (AD), and 16 other neurodegenerative/dementia disorder cases) were performed. We report the clinical, neuropsychological, and neuroimaging findings obtained for the C9orf72 repeat expansion carriers. Of the 135 cases screened, 3/82 (3.7%) of all FTD cases and 1/37 (2.7%) of all clinical AD cases had a C9orf72 repeat expansion. In this cohort, the C9orf72 pathological expansion was found in clinical diagnoses bridging the FTD, parkinsonism, ALS and AD spectrum. Interestingly, we showed early writing errors without aphasia in two subjects with C9orf72 expansions.
This study represents the first genetic screening for C9orf72 repeat expansions in a Bulgarian dementia cohort. The C9orf72 repeat expansion does not appear to be a common cause of FTD and related disorders. This report confirms the notion that C9orf72 repeat expansions underlie a broad spectrum of neurodegenerative phenotypes. Relatively isolated agraphia in two cases with C9orf72 repeat expansions is a strong motivation to provide detailed and sophisticated oral and written language assessments that can be used to more precisely characterize early cognitive deficits in these heterogeneous conditions.
We demonstrate that fluorescence of single molecules in the nanometric vicinity of a thin gold film can be effectively excited and detected through the film with an epi-illumination scanning confocal ...microscope. A full theoretical treatment of the fluorescence signal indicates that both excitation and emission are surface-plasmon mediated. Remarkably, the number of photons detectable from chromophores perpendicular to the interface is enhanced by the presence of the metal.
To build a framework for investigation of the associations between imaging, clinical target volumes (CTVs), and metabolic tumor volumes (MTVs) features for better understanding of the underlying ...information in the CTVs and dependencies between these volumes. High-throughput extraction of imaging and metabolomic quantitative features from magnetic resonance imaging (MRI) and magnetic resonance spectroscopic imaging of glioblastoma multiforme (GBM) results in tens of variables per patient. In radiation therapy of GBM the relevant metabolic tumor volumes (MTVs) are related to aberrant levels of N-acetyl aspartate (NAA) and choline (Cho). The corresponding clinical target volumes (CTVs) for radiation therapy are based on contrast-enhanced T1-weighted (CE-T1w) and T2-weighted (T2w)/fluid-attenuated inversion recovery MRI.
Necrotic portions, enhancing lesion, and edema were manually contoured on CE-T1w/T2w images for 17 GBM patients. Clinical target volumes and MTVs for NAA (MTV
) and Cho (MTV
) were constructed. Imaging and metabolic features related to size, shape, and signal intensities of the volumes were extracted. Tumors were also scored categorically for 10 semantic imaging traits by a neuroradiologist. All features were investigated for redundancy. Two-way correlations between imaging and CTVs/MTVs features were visualized as heatmaps. Associations between MTV
and MTV
and imaging features were studied using Spearman correlation.
Forty-eight imaging features were extracted per patient. Half of the imaging traits were replaced with automatically extracted continuous variables. Twenty features were extracted from CTVs and MTVs. A series of semantic imaging traits were replaced with automatically extracted continuous variables. There were multiple (22) significant correlations of imaging measures with CTVs/MTV
, whereas there were only 6 with CTVs/MTV
.
A framework for investigation of codependencies between MRI and magnetic resonance spectroscopic imaging radiomic features and CTVs/MTVs has been established. The MTV for NAA was found to be closely associated with MRI volumes, whereas very few imaging features were related to MTV
, indicating that Cho provides additional information to imaging.
Introduction:
Filtration surgery is the most effective method of lowering intraocular pressure (IOP) in patients with insufficient medical control. It consists in facilitating the drainage of the ...intraocular fluid (IOF) from the anterior chamber to the subconjunctival space and subsequent lowering of IOP. The formation of filtration blebs (FB) and the processes of scarring occurring in the conjunctiva are of particular importance in glaucoma surgery. In many cases, the appearance of FB does not match the IOP values, and what causes the failure after trabeculectomy often remains unclear. Often, over time, there is a change in the structure of the FB, as fibrous tissue grows, which prevents the IOF drainage. Laser scanning in vivo confocal microscopy is a non-invasive study allowing the production of layered images at the microstructural level with high resolution of both the cornea and other structures of the anterior ocular surface.
Aim:
To evaluate the morphological structure and function of filtering blebs after trabeculectomy using in vivo confocal microscopy taking into account the type of implant and when the surgery was performed.
Materials and methods:
The study included 33 patients, 46 eyes with glaucoma. Twenty-six of the eyes had primary open-angle glaucoma (POAG), 18 eyes had pseudoexfoliative glaucoma and 2 eyes had juvenile glaucoma. All patients underwent trabeculectomy with fornix-based flap, and three of the eyes underwent retrabeculectomy. Mitomicyn C (MMC) was administered intraoperatively to all patients. The study of the filtering bleb was performed by in vivo confocal microscopy (CFM) (Heidelberg Retina Tomograph II (HRT II) /Rostock Cornea Module/ (Heidelberg Engineering GmbH, Heidelberg, Germany), the period from trabeculectomy and examination being from 1 year to 22 years. An Express implant was placed in 14 eyes, Ologen implant in 7 eyes, and 25 eyes had no implant placed. In the analysis of the morphological structure of the filtering blebs, three indicators were evaluated: the type of epithelium, the type of stroma, and blood vessels.
Results:
Statistical significance was established with regard to the function and morphological structure of the filtering bleb (
p
=0.009). Blebs with fine collagen mesh and dense collagen mesh demonstrate good function. In the case of blebs with insufficient function, those with a dense collagen network and hyper-reflective tissue predominated and there were no blebs with a fine collagen network, and in non-functioning blebs most common were those with a pronounced collagen network and hyper-reflective tissue. With regard to vascularization, we found that the functioning blebs in the shortest postoperative period were dominated by those with one blood vessel (stage 1) and there was no stage 3, with weak tortuosity, while in non-functioning blebs in the late postoperative period, there was moderate to severe vascularization and tortuosity (
p
=0.037), (
p
=0.043), (
p
=0.047), (
p
=0.021). The type of implant affects the tortuosity of the blood vessels of the filtering bleb (
p
=0.026). The blebs with Express implants show a slight tortuosity, followed by the blebs with Ologen implants. The highest percentage of highly kinked blood vessels occurred in blebs without an implant.
Conclusions:
In vivo confocal microscopy is an innovative method which allows visualization of the internal structure of the filtering blebs at a cellular level, giving us a new insight into the ongoing healing processes, premising the function of the filtering blebs after glaucoma surgery.
This paper summarizes the 2020 Diversity in Radiology and Molecular Imaging: What We Need to Know Conference, a three-day virtual conference held September 9–11, 2020. The World Molecular Imaging ...Society (WMIS) and Stanford University jointly organized this event to provide a forum for WMIS members and affiliates worldwide to openly discuss issues pertaining to diversity in science, technology, engineering, and mathematics (STEM). The participants discussed three main conference themes, “racial diversity in STEM,” “women in STEM,” and “global health,” which were discussed through seven plenary lectures, twelve scientific presentations, and nine roundtable discussions, respectively. Breakout sessions were designed to flip the classroom and seek input from attendees on important topics such as increasing the representation of underrepresented minority (URM) members and women in STEM, generating pipeline programs in the fields of molecular imaging, supporting existing URM and women members in their career pursuits, developing mechanisms to effectively address microaggressions, providing leadership opportunities for URM and women STEM members, improving global health research, and developing strategies to advance culturally competent healthcare.
We use a sample of diphoton + dijet events to measure the effective cross section of double parton interactions, which characterizes the area containing the interacting partons in proton-antiproton ...collisions, and find it to be σ eff = 19.3 ± 1.4 ( stat ) ± 7.8 ( syst ) mb . The sample was collected by the D0 detector at the Fermilab Tevatron collider in p$\bar{p}$ collisions at √ s = 1.96 TeV and corresponds to an integrated luminosity of 8.7 fb - 1 .
Distinguishing indolent from clinically significant localized prostate cancer is a major clinical challenge and influences clinical decision-making between treatment and active surveillance. The ...development of novel predictive biomarkers will help with risk stratification, and clinical decision-making, leading to a decrease in over or under-treatment of patients with prostate cancer. Here, we report that Trop2 is a prognostic tissue biomarker for clinically significant prostate cancer by utilizing the Canary Prostate Cancer Tissue Microarray (CPCTA) cohort composed of over 1100 patients from a multi-institutional study. We demonstrate that elevated Trop2 expression is correlated with worse clinical features including Gleason score, age, and pre-operative PSA levels. More importantly, we demonstrate that elevated Trop2 expression at radical prostatectomy predicts worse overall survival in men undergoing radical prostatectomy. Additionally, we detect shed Trop2 in urine from men with clinically significant prostate cancer. Our study identifies Trop2 as a novel tissue prognostic biomarker and a candidate non-invasive marker for prostate cancer.
•There are current efforts on develop some junipers as agricultural crops.•J. communis, J. sibirica, and J. pygmaea are taxonomically controversial.•The essential oil of three species was analyzed ...for chemistry and antimicrobial activity.•Oil composition varied among and within species, depended on plant sex and location.•The results may help in conservation and development of juniper species as crops.
Juniperus communis L. is one of the widest spread species on earth, while J. pygmaea C. Koch. and J. sibirica Burgsd. are taxonomically controversial with some authors and the official Flora of Bulgaria recognizing them as separate species and other authors considering them sub-species of J. communis. There are current efforts on developing J. communis as agricultural crop to provide consistency of supply and quality of juniper essential oil (EO) and juniper galbuli (cones or berries). The objective of the study was to evaluate the chemical profile and antimicrobial activity of the leaf EO of juniper species collected in Bulgaria, Serbia, and Slovakia. The leaf EO content and EO composition varied among species and within species and also depended on the plant sex and location. In J. communis EO from Slovakia and Serbia, the major oil constituent was α-pinene (25.1–27.0 % and 21.8–22.2% respectively). However, sabinene (19.8–27.9%) was the major constituent in J. communis EO from Bulgaria. Monoterpene hydrocarbons (MHs) were the main group of EO constituents in J. communis from Bulgaria (17–22% α-pinene, 20–27% sabinene, and 8.8–11.7% γ-terpinene) and Serbia (25–27% α-pinene, 23–25% sabinene, and 4.9 to 5.3% γ-terpinene). J. communis oils originating from Slovakia showed more similarity to those from Bulgaria. The main group of EO constituents in J. pygmaea belonged to MHs (26–28% α-pinene, 17–19% sabinene, and 4.8–6.1% β-phellandrene). The oxygenated sesquiterpenes (OSs) were the second largest group of components in the EO of J. pygmaea, a noted difference compared with J. communis. The main group of EO constituents of J. sibirica from Bulgaria were MHs (36–44% α-pinene, 10–13% δ-3 carene, and 4.5–12% limonene). Eleven components found in the EO of J. sibirica from Bulgaria were not detected in the EOs of other species. In J. sibirica originating in Serbia, the main group of EO constituents belonged to MHs (∼ 24%, sabinene, ∼ 19% α-pinene, and 6% γ-terpinene). The results support the concept that the three junipers should be considered separate species. The leaf EOs of J. communis, J. sibirica, and J. pygmaea did not exhibit significant antimicrobial activity. The results contribute to further understanding of juniper leaf EO in Eastern Europe and can be used by policymakers and industry in conservation planning and in the development of juniper species as agricultural crops.
Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, ...epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism (SNP)-array and array comparative genomic hybridization (aCGH) as diagnostic tools has led to the recognition of new microdeletion/microduplication syndromes associated with neurodevelopmental disorders. It is also useful for further characterization of marker chromosomes. Here, we report a girl with mild intellectual disability and mild facial dysmorphisms. Cytogenetic analysis showed a marker chromosome in some percent of the cells and was followed by SNP-array karyotyping that detected, in addition, a 9655 Mb
interstitial deletion at 9q21.1-9q21.2.
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