Hemoragično mrzlico z renalnim sindromom (HMRS) povzročajo hantavirusi, ki so razširjeni po vsem svetu. V Sloveniji se pojavljata dva podtipa – virus Puumala in virus Dobrava. Virus Puumala povzroča ...blažjo obliko bolezni, virus Dobrava pa hujšo obliko bolezni. Poglavitni gostitelji in prenašalci bolezni v našem prostoru so miši, zato HMRS imenujemo tudi mišja mrzlica. Za bolezen je značilna predvsem vročina z mrzlico in glavobolom. V laboratorijskih izvidih najpogosteje ugotavljamo trombocitopenijo, pri napredovali bolezni tudi porast vrednosti ledvičnih retentov. Bolezen diagnosticiramo z dokazom specifičnih protiteles IgM in IgG z metodo indirektne imunofluorescence (angl. indirect immunofluorescence, IIF) in z metodo ELISA (angl. enzyme-linked immunosorbent assay). Zdravljenje je simptomatsko. V letu 2021 skoraj polovica vseh prijavljenih primerov okužbe s hantavirusi v Sloveniji izvirala iz goriške regije. Pri otrocih smo v Sloveniji v letu 2021 zabeležili 24 primerov, od tega 13 v goriški regiji. Devet otrok iz goriške regije je potrebovalo hospitalizacijo. V prispevku prikazujemo pojavnost, klinični potek in obravnavo hantavirusnih okužb na primarni in sekundarni ravni pri otrocih v goriški regiji v letu 2021. Epidemiološki podatki za leto 2021 so preliminarni.
Hantaviruses are spread worldwide and cause haemorrhagic fever with renal syndrome(HMRS). The two serotypes occurring in Slovenia are Puumala and Dobrava viruses. Puumala virus causes a milder ...disease, whereas Dobrava virus causes a more severe form. The transmission of the virus in Slovenija occurs mainly from mice to human hosts, giving the disease its second, colloquial name, »mice chills/mice fever«. The most common clinical presentation is fever with chills and headache. The most typical laboratory finding is thrombocytopenia, but in more severe cases, serum creatinine and urea levels can also be elevated. Serological tests such as indirect immunofluorescence (IIF) and ELISA (enzyme-linked immunosorbent assay) will detect specific IgM and IgG antibodies to confirm the diagnosis. The treatment is primarily supportive. In 2021 almost half of the cases of Hantavirus infections in Slovenia originated from the Goriška region. There were 24 cases of Hantavirus infection among children, 13 of which originated from the Goriška region, and nine of 13 needed hospital treatment. This article presents the incidence, clinical course, and treatment of Hantavirus infections at primary and secondary healthcare levels in children of the Goriška region in 2021. Side note: The epidemiologic data for the year 2021 is preliminary
WHO YOU CALLING A BITCH? Lazar-Lea, Lichelli
Essence,
02/1995, Volume:
25, Issue:
10
Magazine Article
After three years of living the US, Lichelli Lazar-Lea became desensitized to the word "bitch." She describes a recent experience at a Los Angeles party and calls for black women to stop ...underestimating themselves and work on their self-esteem.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Next-generation sequencing-based assays are being increasingly used in the clinical setting for the detection of somatic variants in solid tumors, but limited data are available regarding the ...interlaboratory performance of these assays.
To examine proficiency testing data from the initial College of American Pathologists (CAP) Next-Generation Sequencing Solid Tumor survey to report on laboratory performance.
CAP proficiency testing results from 111 laboratories were analyzed for accuracy and associated assay performance characteristics.
The overall accuracy observed for all variants was 98.3%. Rare false-negative results could not be attributed to sequencing platform, selection method, or other assay characteristics. The median and average of the variant allele fractions reported by the laboratories were within 10% of those orthogonally determined by digital polymerase chain reaction for each variant. The median coverage reported at the variant sites ranged from 1922 to 3297.
Laboratories demonstrated an overall accuracy of greater than 98% with high specificity when examining 10 clinically relevant somatic single-nucleotide variants with a variant allele fraction of 15% or greater. These initial data suggest excellent performance, but further ongoing studies are needed to evaluate the performance of lower variant allele fractions and additional variant types.
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DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Diffuse intrinsic pontine glioma (DIPG) is one of the most frequent malignant pediatric brain tumor and its prognosis is universaly fatal. No significant improvement has been made in last thirty ...years over the standard treatment with radiotherapy. To address the paucity of understanding of DIPGs, we have carried out integrated molecular profiling of a large series of samples obtained with stereotactic biopsy at diagnosis. While chromosomal imbalances did not distinguish DIPG and supratentorial tumors on CGHarrays, gene expression profiling revealed clear differences between them, with brainstem gliomas resembling midline/thalamic tumours, indicating a closely-related origin. Two distinct subgroups of DIPG were identified. The first subgroup displayed mesenchymal and pro-angiogenic characteristics, with stem cell markers enrichment consistent with the possibility to grow tumor stem cells from these biopsies. The other subgroup displayed oligodendroglial features, and appeared largely driven by PDGFRA, in particular through amplification and/or novel missense mutations in the extracellular domain. Patients in this later group had a significantly worse outcome with an hazard ratio for early deaths, ie before 10 months, 8 fold greater that the ones in the other subgroup (p = 0.041, Cox regression model). The worse outcome of patients with the oligodendroglial type of tumors was confirmed on a series of 55 paraffin-embedded biopsy samples at diagnosis (median OS of 7.73 versus 12.37 months, p = 0.045, log-rank test). Two distinct transcriptional subclasses of DIPG with specific genomic alterations can be defined at diagnosis by oligodendroglial differentiation or mesenchymal transition, respectively. Classifying these tumors by signal transduction pathway activation and by mutation in pathway member genes may be particularily valuable for the development of targeted therapies.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Cutaneous melanoma is one of the most aggressive types of cancer and often proves fatal in metastatic stages. Few treatment options are available, and its global incidence is quickly increasing. In ...order to gain an improved understanding of the molecular features regarding melanoma progression, we have compared gene and small non-coding RNA expression profiles from cell lines derived from primary melanoma (MelJuSo), lymph node metastasis (MNT-1) and brain metastasis (VMM1), representing distinct stages of malignant progression. Our preliminary results highlighted the aberrant regulation of molecular markers involved in several processes that aid melanoma progression and metastasis development, including extracellular matrix remodeling, migratory potential and angiogenesis. Moreover, bioinformatic analysis revealed potential targets of the microRNAs of interest. Confocal microscopy and immunohistochemistry analysis were used for validation at the protein level. Exploring the molecular landscape of melanoma may contribute to the achievement of future efficient targeted therapy, as well as better prevention, diagnosis and clinical management.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Purpose
This study aimed to determine the effect of body mass index (BMI) percentile, asthma, sex, and age on the paediatric obstructive sleep apnoea (OSA) severity. Furthermore, to determine the ...possible predictive role of the BMI percentile and age in severe OSA.
Methods
This retrospective study included 921 children aged 2–18 years diagnosed with OSA by polysomnography. Analysis of Covariance (ANCOVA), Spearman’s correlation, Receiver Operating Characteristics (ROC) analyses were performed and area under the curve (AUC) was determined.
Results
We observed a significant association between a higher BMI percentile and the severity of OSA (p < 0.001, ρ = 0.15). The correlation also was significant under (
p
= 0.007, ρ = 0.11) and over 7 (
p
= 0.0002, ρ = 0.23) years of age. There was no association between the severity of OSA and the presence of asthma (
p
= 0.9) or sex (
p
= 0.891), respectively. Age was significantly related to OSA severity (
p
= 0.01,
ρ
= 0.08). Although both the BMI percentile (0.59 AUC 0.54–0.65) and age (0.58 AUC 0.52–0.63) predicted severe OSA, according to the sensitivity and specificity values of the ROC curve, the association presents a slight clinical relevance.
Conclusions
OSA severity is determined by the BMI percentile and age in children; however, these factors are unsuitable for predicting severe OSA in clinical practice. Based on our results, obesity is also a significant risk factor for OSA in younger children. Our study highlights that older, overweight, and obese children have a higher risk for severe OSA.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Lactic acid fermentation (LAF) is known to improve nutritional properties and functionality and to extend the shelf life of foods. We studied the LAF of
as the sole substrate using
as the starter ...culture. Fermented (FB) and non-fermented broth (NFB) were analysed by means of pH, lactic acid bacteria (LAB) count, lactic acid concentration, microbiological safety, and nutritional composition. Additionally, water and ethanol extracts were prepared on which total phenolic content, DPPH radical scavenging activity, and cellular antioxidant activity were determined. The maximum increase in LAB count and lactic acid concentration and drop in pH was observed in the first 24 h of fermentation. Total phenolic content and DPPH radical scavinging activity of ethanol extracts increased after fermentation compared with NFB. Ethanol extracts of FB have been shown as a potential source of antioxidants, which efficiently lowered oxidation level in the cells of yeast
, as well as the oxidative damage of lipids. Additionally, the level of non-protein nitrogen increased, indicating higher protein bioavailability, and fat content decreased in comparison with NFB. No presence of pathogenic bacteria and low pH indicate enhancement of FB microbiological stability. Therefore, inclusion of fermented
into food products could lead to added-value foods based on microalgae.
Mechanisms regulating nuclear organization control fundamental cellular processes, including the cell and chromatin organization. Their disorganization, including aberrant nuclear architecture, has ...been often implicated in cellular transformation. Here, we identify Lamin A, among proteins essential for nuclear architecture, as SPANX (sperm protein associated with the nucleus on the X chromosome), a cancer testis antigen previously linked to invasive tumor phenotypes, interacting protein in melanoma. SPANX interaction with Lamin A was mapped to the immunoglobulin fold-like domain, a region critical for Lamin A function, which is often mutated in laminopathies. SPANX downregulation in melanoma cell lines perturbed nuclear organization, decreased cell viability, and promoted senescence-associated phenotypes. Moreover, SPANX knockdown (KD) in melanoma cells promoted proliferation arrest, a phenotype mediated in part by IRF3/IL1A signaling. SPANX KD in melanoma cells also prompted the secretion of IL1A, which attenuated the proliferation of naïve melanoma cells. Identification of SPANX as a nuclear architecture complex component provides an unexpected insight into the regulation of Lamin A and its importance in melanoma. IMPLICATIONS: SPANX, a testis protein, interacts with LMNA and controls nuclear architecture and melanoma growth.
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