Loss of protein phosphatase 2A regulatory subunit PPP2R5A is associated with increased incidence of stress-induced proarrhythmia.

Background: Protein phosphatase 2A (PP2A) is a serine/threonine-selective holoenzyme that controls Ca2+ homeostasis and contractility of the heart via dephosphorylation of regulatory proteins. In some genetically modified mouse models with increased arrhythmogenicity, a reduced expression of the regulatory subunit B56α of PP2A was found as a concomitant effect. Whether there is a general correlation between the abundance of B56α and the promotion of cardiac arrhythmogenesis remains unclear. Methods: The aim of this study was therefore to investigate the role of PP2A-B56α in the propensity for arrhythmic activity in the heart. The experimental analysis of this question has been addressed by using a mouse model with deletion of the PP2A-B56α gene, PPP2R5A (KO), in comparison to wild-type animals (WT). Evidence for arrhythmogenicity was investigated in whole animal, isolated heart and cardiomyocytes by ECG, recording of monophasic action potential (MAP) induced by programmed electrical stimulation (PES), measurement of Ca2+ transients under increased pacing frequencies and determination of total K+ channel currents (I K). Results: ECG measurements showed a prolongation of QT time in KO vs. WT. KO mice exhibited a higher rate of premature ventricular contractions in the ECG. MAP measurements in Langendorff-perfused KO hearts showed increased episodes of ventricular tachyarrhythmia induced by PES. However, the KO hearts showed values for MAP duration that were similar to those in WT hearts. In contrast, KO showed more myocardial cells with spontaneous arrhythmogenic Ca2+ transient events compared to WT. The whole-cell patch-clamp technique applied to ventricular cardiomyocytes revealed comparable peak potassium channel current densities between KO and WT. Conclusion: These findings support the assumption that a decrease or even the loss of PP2A-B56α leads to an increased propensity of triggered arrhythmias. This could be based on the increased spontaneous Ca2+ tansients observed.

A protective effect of lower MHC-II expression in MOGAD.

Myelin oligodendrocyte glycoprotein-antibody-associated disease (MOGAD) is a demyelinating central nervous system disorder. We aimed to uncover immune pathways altered in MOGAD to predict disease progression. Using nanostring nCounter technology, we analyzed immune gene expression in PBMCs from MOGAD patients and compare it with healthy controls (HCs). We found 35 genes that distinguished MOGAD patients and HCs. We then validated those results in a larger cohort including MS and NMOSD patients. Expressions of HLA-DRA was significantly lower in MOGAD patients. This reduction in HLA-DRA, correlated with a monophasic disease course and greater brain volume, enhancing our ability to predict MOGAD progression.

Valorization of Lignocellulose with One-Step Acidified Monophasic Phenoxyethanol Fractionation.

Effective fractionation of lignocelluosic biomass and subsequent valorization of all three major components under mild conditions were achieved. Pretreatment with acidified monophasic phenoxyethanol (EPH) efficiently removed 92.6 % lignin and 80 % xylan from poplar at 110 °C in 60 min, yielding high-value EPH-xyloside, EPH-modified lignin (EPHL), and a solid residue nearly purely composed of carbohydrates. After removing the grafted acetyl groups using 1 % NaOH at 50 °C, the highest enzymatic digestibility reached 92.3 %. EPHL could be recovered in high yield and purity with an uncondensed structure, while xylose was converted to EPH-xyloside, a potential precursor in biomedical industries. Additionally, the acidified monophasic EPH solvent could effectively fractionate biomass from species other than hardwood, achieving over 70 % delignification from recalcitrant pinewood under the same mild conditions, demonstrating the high potential of monophasic EPH pretreatment.

Assessment of dietary intake and its inflammatory potential in persons with pediatric-onset multiple sclerosis.

OBJECTIVE: To compare diet and the modified dietary inflammatory index (mDII) between individuals with pediatric-onset multiple sclerosis (PoMS), monophasic acquired demyelinating syndromes (monoADS), and controls. METHODS: The association between diet, mDII, and disease status was examined in 131 individuals with PoMS/monoADS/controls (38/45/48) using logistic regression. RESULTS: The associations between diet and PoMS were modest, reaching significance for whole grain intake (adjusted odds ratio, aOR=0.964, 95 % confidence intervals, CI:0.934-0.995) but not mDII (aOR=1.20, 95 %CI:0.995-1.46) versus controls. No findings for monoADS reached significance versus controls. CONCLUSIONS: Individuals with PoMS, but not monoADS, had lower dietary whole grain intake than controls.

The oral contraceptive cycle and its influences on maximal and submaximal endurance parameters in elite handball players.

The usage of the oral contraceptive pill is widespread among athletes of various levels. However, there is limited knowledge on how the intake of the pill alters the submaximal and maximal endurance parameters between the oral contraceptive phases. Therefore, the aim of this study was to examine potential differences between the pill intake and withdrawal phase on endurance-related parameters in first-division handball players. In total, 15 female team handball players performed two graded exercise tests until volitional exhaustion on a motorized treadmill. Tests were performed during the pill intake (days 16-17) and withdrawal phase (day 2-3). Throughout the test, respiratory gases were measured breath-by-breath, and the heart rate was measured continuously. Before and after the graded exercise test, blood samples were obtained in order to assess the blood lactate concentration. Before each test, venous blood samples were taken to determine endogenous sex hormone levels. Ventilatory parameters (V˙O2, V˙CO2, and V˙E, and respiratory equivalents for V˙O2 and V˙CO2) were measured, and the oxidation of fat and carbohydrates was calculated. A paired-sample t-test was used to assess differences between the two time points, and the significance was accepted as p < 0.050. Significant differences with lower values during the consumption phase were found for absolute (mean difference ± SD: 88 ± 131 mL∙min-1; p = 0.021) and relative V˙O2peak (mean difference ± SD: 1 ± 2 mL∙min-1∙kg-1; p = 0.012). Higher values during the consumption phase were found for submaximal respiratory equivalents for V˙O2 (mean difference ± SD: -1.1 ± 1.7; p = 0.028) and V˙CO2 (mean difference ± SD: -0.9 ± 1.5; p = 0.032). No differences were found for all other parameters, including differences for endogenous sex hormones (p > 0.050). The results of the current study suggest only marginal and physiologically insignificant differences in endurance-related parameters between oral contraceptive phases.

Could the Historical Transition from Segmented to Monophasic Sleep Explain the Modern Insurgence of Alzheimer's Disease and Related Dementias?

 In their article, Finch and Burstein explore the hypothesis that Alzheimer's disease and related dementias (ADRD) may predominantly be phenomena of the modern era. Through a review of classical Greek and Latin literature, they found minimal reference to conditions akin to ADRD, suggesting a historical rarity of severe cognitive decline. Instead, ancient texts focused on physical aspects of aging, with cognitive changes, when noted, not resembling modern-day dementia. Finch and Burstein further extend their analysis by drawing parallels with the Tsimane people of Bolivia, known for their low prevalence of dementia and cardiovascular diseases, attributed to lifestyle factors such as diet and physical activity. By comparing historical sleep patterns transitioning from segmented to monophasic sleep with those of the Tsimane community, we enriched Finch and Burstein's research, highlighting the need to take into account a range of diverse factors, including sleep, in understanding the etiopathogenesis of ADRD in today's society.

Primary pulmonary monophasic synovial sarcoma initially presenting with bloody pleural effusion: A case report and literature review.

Key Clinical Message: Primary pulmonary synovial sarcoma (PPSS) can originate from blood vessels of the bronchial wall, lung interstitium, and interstitial components, and accounts for 0.1%-0.5% of all primary lung malignancies, the most common symptoms are chest pain, cough, dyspnea, and hemoptysis. Abstract: Synovial sarcoma (SS) is a rare malignant tumor of stromal origin, which accounts for approximately 8%-10% of all soft tissue sarcomas. Primary pulmonary synovial sarcoma (PPSS) can originate from blood vessels of the bronchial wall, lung interstitium, and interstitial components, and accounts for 0.1%-0.5% of all primary lung malignancies. Patient concerns: We report the first case of a 57-year-old man with bloody pleural effusion as an initial manifestation of PPSS in the middle lobe of the right lung diagnosed after surgery. Diagnosis: Chest computed tomography (CT) revealed a mass in the middle lobe of the right lung, which was pathologically diagnosed as a monophasic SS after surgical resection. Interventions: Ten days after preoperative closed chest drainage, a right thoracotomy was performed to remove the right middle lobe of the lung. Outcomes: The patient recovered smoothly and was discharged from the hospital without any other postoperative treatment. A follow-up chest CT scan 7 months postoperatively revealed intrapulmonary recurrence with multiple metastases. Lessons: Monophasic PPSS of the lung may present with bloody pleural effusion as its first manifestation.

Insights into the Evolution of IncR Plasmids Found in the Southern European Clone of the Monophasic Variant of Salmonella enterica Serovar Typhimurium.

Salmonella enterica subspecies enterica serovar 4,[5],12:i:- is a monophasic variant of S. Typhimurium which has emerged as a world-wide distributed pathogen in the last decades. Several clones have been identified within this variant, the European clone, the Spanish clone, the Southern European clone and the U.S./American clone. The present study focused on isolates of the Southern European clone that were obtained from clinical samples at Spanish hospitals. The selected isolates were multidrug resistant, with most resistance genes residing on IncR plasmids that also carried virulence genes. These plasmids had a mosaic structure, comprising a highly reduced IncR backbone, which has acquired a large amount of exogenous DNA mostly derived from pSLT and IncI1-I(alfa) plasmids. Although composed of approximately the same elements, the investigated plasmids displayed a high diversity, consistent with active evolution driven by a wealth of mobile genetic elements. They comprise multiple intact or truncated insertion sequences, transposons, pseudo-compound transposons and integrons. Particularly relevant was the role of IS26 (with six to nine copies per plasmid) in generating insertions, deletions and inversions, with many of the rearrangements uncovered by tracking the patterns of eight bp target site duplications. Most of the resistance genes detected in the analyzed isolates have been previously associated with the Southern European clone. However, erm(B), lnu(G) and blaTEM-1B are novel, with the last two carried by a second resistance plasmid found in one of the IncR-positive isolates. Thus, evolution of resistance in the Southern European clone is not only mediated by diversification of the IncR plasmids, but also through acquisition of additional plasmids. All isolates investigated in the present study have the large deletion affecting the fljBA region previously found to justify the monophasic phenotype in the Southern European and U.S./American clones. An SNP-based phylogenetic analysis revealed the close relationship amongst our isolates, and support that those sharing the large fljBA deletion could be more heterogeneous than previously anticipated.

Treatment of the Nasolabial Fold Using a Hyaluronic Acid-Based Filler with eXcellent Three-Dimensional Reticulation (XTR™) Technology: A Retrospective Study.

Purpose: The physicochemical characteristics of hyaluronic acid (HA) fillers can affect the outcome of minimally invasive aesthetic treatments. The effect of a novel HA-based filler manufactured with a novel 3D structure (XTRTM technology) was assessed in the nasolabial fold. Patients and Methods: We performed a retrospective study of patients who underwent treatment of the nasolabial fold with a novel HA filler in our clinic. Treatment outcome was assessed at 3 and 6 months with wrinkle score, GAIS, and VAS. Results: Eighteen patients were injected with the novel HA filler in the nasolabial fold. At six months, mean wrinkle scores were improved on both sides compared to baseline. GAIS and VAS were high at three and six months. Conclusion: The HA-based filler manufactured with XTRTM technology is safe and effective in treating the nasolabial fold. Good aesthetic results were seen for up to 6 months. Patient satisfaction was high during the entire follow-up.

High levels of multidrug-resistant isolates of genetically similar Salmonella 1,4, [5],12:I:- from Brazil between 1983 and 2020.

Introduction. Salmonella 1,4, [5],12:i:- strains with different antimicrobial resistance profiles have been associated with foodborne disease outbreaks in several countries. In Brazil, S. 1,4, [5],12:i:- was identified as one of the most prevalent serovars in São Paulo State during 2004-2020.Gap Statement. However, few studies have characterized this serovar in Brazil.Aim. This study aimed to determine the antimicrobial resistance profiles of S. 1,4, [5],12:i:- strains isolated from different sources in Southeast Brazil and compare their genetic diversity.Methodology. We analysed 113 S. 1,4, [5],12:i:- strains isolated from humans (n=99), animals (n=7), food (n=5) and the environment (n=2) between 1983 and 2020. Susceptibility testing against 13 antimicrobials was performed using the disc diffusion method for all the strains. Plasmid resistance genes and mutations in the quinolone resistance-determining regions were identified in phenotypically fluoroquinolone-resistant strains. Molecular typing was performed using enterobacterial repetitive intergenic consensus PCR (ERIC-PCR) for all strains and multilocus sequence typing (MLST) for 40 selected strains.Results. Of the 113 strains, 54.87 % were resistant to at least one antimicrobial. The highest resistance rates were observed against ampicillin (51.33 %), nalidixic acid (39.82 %) and tetracycline (38.05 %). Additionally, 39 (34.51 %) strains were classified as multidrug-resistant (MDR). Nine fluoroquinolone-resistant strains exhibited the gyrA mutation (Ser96→Tyr96) and contained the qnrB gene. The 113 strains were grouped into two clusters using ERIC-PCR, and most of strains were present in one cluster, with a genetic similarity of ≥80 %. Finally, 40 strains were typed as ST19 using MLST.Conclusion. The prevalence of MDR strains is alarming because antimicrobial treatment against these strains may lead to therapeutic failure. Furthermore, the ERIC-PCR and MLST results suggested that most strains belonged to one main cluster. Thus, a prevalent subtype of Salmonella 1,4, [5],12:i:- strains has probably been circulating among different sources in São Paulo, Brazil, over decades.

Diversity of evolution in MDR monophasic S. Typhimurium among food animals and food products in Southern China from 2011 to 2018.

The monophasic variant of Salmonella enterica serovar Typhimurium with the antigenic formula 1,4,[5],12:i:- is one of the most common pathogenic bacteria causing global food-borne outbreaks. However, the research on molecular characteristics and evolution of monophasic S. typhimurium in China is still lacking. In the current study, 59 monophasic S. typhimurium strains were isolated from food animals and food products in South China between 2011 and 2018. A total of 87.5 % of monophasic S. typhimurium isolates were grouped into one independent clade with other monophasic S. typhimurium strains in China distinct from other countries by phylogenomic analysis. These isolates possess variable genotypes, including multiple ARGs on plasmid IncHI2, diverse evolutions at the fljAB locus, and virulence factors. Our results suggest that the monophasic S. typhimurium isolates currently circulating in China might be an independent epidemic subtype.

Tripolar configuration and pulse shape in cochlear implants reduce channel interactions in the temporal domain.

The present study investigates effects of current focusing and pulse shape on threshold, dynamic range, spread of excitation and channel interaction in the time domain using cochlear implant stimulation. The study was performed on 20 adult guinea pigs using a 6-channel animal cochlear implant, recording was performed in the auditory midbrain using a multielectrode array. After determining the best frequencies for individual recording contacts with acoustic stimulation, the ear was deafened and a cochlear implant was inserted into the cochlea. The position of the implant was controlled by x-ray. Stimulation with biphasic, pseudomonophasic and monophasic stimuli was performed with monopolar, monopolar with common ground, bipolar and tripolar configuration in two sets of experiments, allowing comparison of the effects of the different stimulation strategies on threshold, dynamic range, spread of excitation and channel interaction. Channel interaction was studied in the temporal domain, where two electrodes were activated with pulse trains and phase locking to these pulse trains in the midbrain was quantified. The results documented multifactorial influences on the response properties, with significant interaction between factors. Thresholds increased with increasing current focusing, but decreased with pseudomonophasic and monophasic pulse shapes. The results documented that current focusing, particularly tripolar configuration, effectively reduces channel interaction, but that also pseudomonophasic and monophasic stimulation and phase duration intensity coding reduce channel interactions.

Primary Gastric Synovial Sarcoma in a Young Male: a Rare Case Report and Review of Literature.

We are reporting a rare case of primary gastric synovial sarcoma in a young male. Synovial sarcoma of the stomach is a very rare tumor. The common involved sites of occurrence of synovial sarcomas are upper and lower extremities. In the English literature, only 47 cases of primary synovial sarcoma of stomach have been reported. Spindle-shaped tumor cells are the basic content of synovial sarcomas with varying degrees of epithelial differentiation. The basic classification of synovial sarcoma depends on the histological pattern and the degree of differentiation and it is classified as monophasic, biphasic, and poorly differentiated. Synovial sarcoma presents with classical chromosomal translocation where they form fusion genes of SS18-SSX1, SS18-SSX2, and SS18-SSX4. Fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR) are the molecular analysis techniques to detect these fusion genes. As the available literature support is limited, the role of adjuvant chemotherapy, radiation therapy, and intra-operative lymphadenectomy is still unclear. However, surgical resection with clear margin is the gold standard treatment.

Salmonella enterica induces biogeography-specific changes in the gut microbiome of pigs.

Swine are a major reservoir of an array of zoonotic Salmonella enterica subsp. enterica lineage I serovars including Derby, Typhimurium, and 4,[5],12:i:- (a.k.a. Monophasic Typhimurium). In this study, we assessed the gastrointestinal (GI) microbiome composition of pigs in different intestinal compartments and the feces following infection with specific zoonotic serovars of S. enterica (S. Derby, S. Monophasic, and S. Typhimurium). 16S rRNA based microbiome analysis was performed to assess for GI microbiome changes in terms of diversity (alpha and beta), community structure and volatility, and specific taxa alterations across GI biogeography (small and large intestine, feces) and days post-infection (DPI) 2, 4, and 28; these results were compared to disease phenotypes measured as histopathological changes. As previously reported, only S. Monophasic and S. Typhimurium induced morphological alterations that marked an inflammatory milieu restricted to the large intestine in this experimental model. S. Typhimurium alone induced significant changes at the alpha- (Simpson's and Shannon's indexes) and beta-diversity levels, specifically at the peak of inflammation in the large intestine and feces. Increased community dispersion and volatility in colonic apex and fecal microbiomes were also noted for S. Typhimurium. All three Salmonella serovars altered community structure as measured by co-occurrence networks; this was most prominent at DPI 2 and 4 in colonic apex samples. At the genus taxonomic level, a diverse array of putative short-chain fatty acid (SCFA) producing bacteria were altered and often decreased during the peak of inflammation at DPI 2 and 4 within colonic apex and fecal samples. Among all putative SCFA producing bacteria, Prevotella showed a broad pattern of negative correlation with disease scores at the peak of inflammation. In addition, Prevotella 9 was found to be significantly reduced in all Salmonella infected groups compared to the control at DPI 4 in the colonic apex. In conclusion, this work further elucidates that distinct swine-related zoonotic serovars of S. enterica can induce both shared (high resilience) and unique (altered resistance) alterations in gut microbiome biogeography, which helps inform future investigations of dietary modifications aimed at increasing colonization resistance against Salmonella through GI microbiome alterations.

Virulence potential of Salmonella 1,4, [5],12:i:- strains isolated during decades from different sources in the Southeast region of Brazil.

Salmonella 1,4, [5],12:i:- is one of the most prevalent serovars associated with gastroenteritis in several countries, including Brazil. However, few studies have analyzed the virulence potential of this variant in this country. Therefore, this study aimed to characterize S. 1,4, [5],12:i:- strains isolated in Southeast Brazil. To this end, 113 S. 1,4, [5],12:i:- strains isolated from different sources between 1983 and 2020 were analyzed. For all strains, the frequencies of 11 virulence genes were investigated using PCR and the molecular typing was performed using pulsed-field gel electrophoresis (PFGE). Furthermore, 40 strains isolated from human and non-human sources were characterized by survival under acid and oxidative stress, and virulence analysis in Galleria mellonella was performed for 20 selected strains. All virulence genes were detected in more than 91% of the strains. The studied strains were grouped into four clusters using PFGE. Most strains were present in one cluster, named PFGE-A, with a genetic similarity of ≥ 79.5%. All 40 strains survived acid stress after 10 min and 1 h of exposure. Under oxidative stress, all 40 strains survived after 10 min, and 36 survived after 1 h of exposure. In the G. mellonella assay, nine isolates from non-human sources and six isolates from human showed high-to-intermediate virulence profiles. In conclusion, the pathogenic potential of the strains studied was corroborated by the high frequency of all the virulence genes identified. The PFGE results suggested that most strains belonged to one main cluster that has been prevailing in the São Paulo State, Brazil. The S. 1,4, [5],12:i:- strains isolated from human and non-human sources successfully survived the unfavorable conditions in the human gastrointestinal tract. Finally, strains isolated from non-human sources showed a higher proportion of isolates with high to intermediate virulence profiles in G. mellonella than in human isolates, suggesting a possible difference between isolates from different origins.

Monophasic Variant of Salmonella Typhimurium 4,[5],12:i:- (ACSSuGmTmpSxt Type) Outbreak in Central Italy Linked to the Consumption of a Roasted Pork Product (Porchetta).

The monophasic variant of S. Typhimurium 4,[5],12:i:- (MVST) is the third most commonly reported Salmonella serovar involved in human infections (8.8%) in the EU and ranks after S. Enteritidis (54.6%) and S. Typhimurium (11.4%). In Italy, in contrast, the MVST has achieved peculiar epidemiological and ecological success which has allowed it to be, since 2011, the serovar most frequently isolated from humans. In the summer of 2022, a foodborne outbreak of the MVST involving 63 people occurred in the Marche Region (Central Italy). A common food exposure source among some human cases was a roasted, ready-to-eat (RTE) pork product, porchetta, which is a typical product of Central Italy. This paper describes the results of investigations conducted to clarify this outbreak. The porchetta was produced by a local manufacturing plant and distributed to at least two local retail stores, one of which was the retail outlet for the manufacturing plant. The MVST was isolated from surface samples collected at the porchetta manufacturing plant and at both local retail stores via bacterial analysis, and the porchetta sampled at one store contained the MVST. These data confirm this type of RTE pork product can be a source of Salmonella infection in humans.

Association between Patients' Body Mass Index and the Effect of Monophasic Pulsed Microcurrent Stimulation on Pressure Injury Healing.

This secondary analysis study aimed to detect individual variables that influence the efficacy of monophasic pulsed microcurrent on pressure injury healing. Eleven patients with pressure injuries showing delayed healing underwent a microcurrent stimulation period and a placebo period. We analyzed the correlation between the individual variables and the following three outcomes using monophasic pulsed microcurrent: the wound reduction rate in the electrical stimulation period, the reduction rate in the placebo period, and the difference between these two reduction rates. Furthermore, the patients were divided into two groups, one with a wound reduction rate of more than 10% and the other with less than 10%, and the relationship between each variable was compared. As a result, the wound reduction rate in the electrical stimulation period and the difference in the reduction rate between the two periods showed significant positive correlations with patients' body mass index. In addition, a significant difference was observed in the body mass index between subjects with a reduction rate of 10% or higher and those with a reduction rate of less than 10%. This study found a correlation between the effect of monophasic pulsed microcurrent for pressure injury healing and the level of patients' body mass index.

Exposure of Salmonella enterica serovar 1,4,[5],12:i:- to benzalkonium chloride leads to acquired resistance to this disinfectant and antibiotics.

AIMS: Disinfectants such as benzalkonium chloride (BC), extensively used in animal farms and food-processing industries, contribute to the development of adaptive and cross-resistance in foodborne pathogens, posing a serious threat to food safety and human health. The purpose of this study is to explore whether continuous exposure of Salmonella enterica serovar 1,4,[5],12:i:- (S. 1,4,[5],12:i:-) to sublethal concentrations of BC could result in acquired resistance to this agent and other environmental stresses (e.g. antibiotics, heat, and acid). METHODS AND RESULTS: BC tolerance increased in all tested strains after exposure to gradually increasing concentrations of BC, with increases in minimum inhibitory concentrations between two and sixfold. The survival rate of BC-adapted strains was significantly (P < 0.05) higher than that of their wild-type (non-adapted) counterparts in lethal concentrations of BC. In addition, significant reductions (P < 0.05) in zeta potential were observed in BC-adapted strains compared to wild-type ones, indicating that a reduction in cell surface charge was a cause of adaptative resistance. More importantly, two BC-adapted strains exhibited increased antibiotic resistance to levofloxacin, ceftazidime, and tigecycline, while gene mutations (gyrA, parC) and antibiotic efflux-related genes (acrB, mdsA, mdsB) were detected by genomic sequencing analysis. Moreover, the tolerance of BC-adapted strains to heat (50, 55, and 60°C) and acid (pH 2.0, 2.5) was strain-dependent and condition-dependent. CONCLUSIONS: Repeated exposure to sublethal concentrations of BC could result in the emergence of BC- and antibiotic-resistant S. 1,4,[5],12:i:- strains.

Olfactory groove monophasic sinovial sarcoma and von Recklinghausen's disease: A case report and literature review.

Background: Soft-tissue sarcomas are a rare and diverse group of neoplastic lesions. They represent only 1% of malignant tumors in adults and 15% in children. Synovial sarcoma (SS) is a type of soft-tissue sarcoma, accounting for 5-10% of cases, and commonly affecting extremities. Diagnosis, treatment, and prognosis remain challenging especially when localized in uncommon areas, such as intracranial lesions. Case Description: A 13-year-old male patient with a clinical history of neurofibromatosis Type I (NF1) presenting holocranial headache with jet vomiting and apathy 2 days before admission, without neurological deficits and/or focal findings. On magnetic resonance imaging: an extra-axial infiltrative lesion with contrast uptake at the base of the skull in the olfactory groove topography. After total tumor resection, the anatomopathological examination showed monophasic SS. The patient returned after 6 months with similar symptoms, and the lesion recurred and was reoperated. Unfortunately, 7 months after the second surgery, the patient died. Conclusion: SS can occur extraarticulously and with a variable clinical presentation and poor prognosis despite adjuvant therapies with radiotherapy and chemotherapy. In individuals with clinical history of NF1, there is still no direct correlation between the two manifestations, although current descriptions are suggestive of a possible interaction.

A rare case of perineal synovial sarcoma.

Synovial sarcoma is a malignant mesenchymal neoplasm that is frequently misdiagnosed due to its slow growth and small size. This tumor presents as a nonspecific heterogeneous mass on cross-sectional imaging. Biopsy and histopathological assessments are required to differentiate synovial sarcoma from other sarcoma subtypes and to define the tumor grade. This article presents the case of a 17-year-old male patient with perineal synovial sarcoma.