HPV nonrelated endocervical adenocarcinoma in hereditary cancer syndromes

2020 ◽  
Vol 106 (6) ◽  
pp. NP67-NP72
Author(s):  
Ileana Carnevali ◽  
Eleonora Di Lauro ◽  
Valeria Pensotti ◽  
Nora Sahnane ◽  
Eleonora Leoni ◽  
...  

Introduction: The relationship between endocervical cancer and cancer susceptibility syndromes is not yet fully understood. We present 2 cases of endocervical cancer: 1 arising in a patient carrier with a pathogenic BRCA1 variant and the second detected in a Lynch syndrome family carrying the MSH2 germline pathogenic variant. Case description: Somatic analyses including loss of heterozygosity and fluorescent in situ hybridization demonstrated that the second hit in patient 1 is BRCA1-related. Mismatch repair somatic analyses in the second family demonstrated that the endocervical cancers of patient 2 and of her sister are MSH2-related. These data confirm the relationship between the pathogenesis of endocervical cancer and the presence of germline BRCA1 and MSH2 mutations. Conclusions: Our study confirms that gynecologic cancers including rare entities such as non–human papillomavirus–related endocervical cancer (NHPVA) are sentinels for inherited cancer syndromes. Endocervical cancer NHPVAs might be considered for cancer genetic counseling in order to improve cancer prevention. For this reason, the role of pathologists is particularly important for the correct identification of the cervical tumor site.

2021 ◽  
Vol 22 (2) ◽  
pp. 500
Author(s):  
Marina Ferrer ◽  
Mònica Aguilera ◽  
Vicente Martinez

Rifaximin is a broad-spectrum antibiotic that ameliorates symptomatology in inflammatory/functional gastrointestinal disorders. We assessed changes in gut commensal microbiota (GCM) and Toll-like receptors (TLRs) associated to rifaximin treatment in mice. Adult C57BL/6NCrl mice were treated (7/14 days) with rifaximin (50/150 mg/mouse/day, PO). Luminal and wall-adhered ceco-colonic GCM were characterized by fluorescent in situ hybridization (FISH) and microbial profiles determined by terminal restriction fragment length polymorphism (T-RFLP). Colonic expression of TLR2/3/4/5/7 and immune-related markers was assessed (RT-qPCR). Regardless the period of treatment or the dose, rifaximin did not alter total bacterial counts or bacterial biodiversity. Only a modest increase in Bacteroides spp. (150 mg/1-week treatment) was detected. In control conditions, only Clostridium spp. and Bifidobacterium spp. were found attached to the colonic epithelium. Rifaximin showed a tendency to favour their adherence after a 1-week, but not 2-week, treatment period. Minor up-regulation in TLRs expression was observed. Only the 50 mg dose for 1-week led to a significant increase (by 3-fold) in TLR-4 expression. No changes in the expression of immune-related markers were observed. Rifaximin, although its antibacterial properties, induces minor changes in luminal and wall-adhered GCM in healthy mice. Moreover, no modulation of TLRs or local immune systems was observed. These findings, in normal conditions, do not rule out a modulatory role of rifaximin in inflammatory and or dysbiotic states of the gut.


2013 ◽  
Vol 59 (3) ◽  
pp. 183-188 ◽  
Author(s):  
V.M. Siqueira ◽  
H.M.B. Oliveira ◽  
C. Santos ◽  
R.R.M. Paterson ◽  
N.B. Gusmão ◽  
...  

Filamentous fungi in drinking water can block water pipes, can cause organoleptic biodeterioration, and are a source of pathogens. There are increasing reports of the involvement of the organisms in biofilms. This present study describes a sampling device that can be inserted directly into pipes within water distribution systems, allowing biofilm formation in situ. Calcofluor White M2R staining and fluorescent in situ hybridization with morphological analyses using epifluorescent microscopy were used to analyse biofilms for filamentous fungi, permitting direct observation of the fungi. DAPI (4′,6-diamidino-2-phenylindole) was applied to detect bacteria. Filamentous fungi were detected in biofilms after 6 months on coupons exposed to raw water, decanted water and at the entrance of the water distribution system. Algae, yeast, and bacteria were also observed. The role of filamentous fungi requires further investigations.


2017 ◽  
Vol 30 (23) ◽  
pp. 9527-9537 ◽  
Author(s):  
In-Hong Park ◽  
Seung-Ki Min

On a subdaily time scale, the intensities of extreme precipitation are observed to increase with temperature at a rate exceeding water vapor constraints determined by the Clausius–Clapeyron (C-C) relationship. This so-called super C-C scaling has been suggested to occur as a result of 1) the statistical effect that involves the transition of precipitation types from stratiform to convective events and 2) the physical effect by which the convective process itself can overcome the thermodynamic limitation. This study examines these two mechanisms for the super C-C relationship using in situ observations in South Korea for a recent 35-yr period, focusing on the role of convective rainfall. Scaling results show that hourly extreme precipitation undergoes a transition from a C-C rate to a super C-C rate at around 20°C, supporting the statistical effect. The transition temperature observed in South Korea is, however, much higher than in European regions (12°C), which seems to be due to the climatologically lower frequency of convective events in South Korea than in Europe. Nevertheless, the threshold fraction of convective precipitation when the scaling transition starts to occur is found to very similar between two regions, around 0.2, indicating the important role of convective events in shaping the scaling. On the other hand, convective extreme precipitation alone exhibits a super C-C scaling, suggesting that the physical effect is also at work in South Korea. Also, the scaling shows a robust peaklike shape with maximum precipitation intensity near 24°C, which is closely linked with moisture limitation at high temperature, supporting the previous findings.


2020 ◽  
Author(s):  
Christopher A. Hylton ◽  
John E. Tomkiel Dean

Pairings between heterologous chromosomes in meiosis can lead to nondisjunction and the production of aneuploid gametes. To minimize these aberrant outcomes, organisms have evolved mechanisms to disrupt such improper pairings prior to orientation and segregation. In the male fruit fly, Drosophila melanogaster, bivalents segregate to distinct nuclear domains in prophase I, and it has been proposed that the formation of these distinct territories may play a role in disrupting interactions between limited homologies on heterologous chromosomes. To test this, we used fluorescent in situ hybridization to examine pairing between the X chromosome and Dp(1;3) chromosomes in which a segment of the X had been transposed to chromosome 3. We found that 120kb of homology was sufficient to insure nearly complete pairing but was not sufficient to direct merotelic segregation of the paired elements, suggesting that such pairings were being disrupted. We compared the perdurance of X / Dp(1;3) pairings to that of X / Dp(1;Y) pairings (in which homologs are paired),and found that heterologous pairings were disrupted at a higher frequency at the S2b stage of prophase I, the stage at which territory formation is initiated. Our results support the model that movement of bivalents into distinct domains in prophase I provides a mechanism to disrupt pairings between limited regions of homology, and thus may be one means of preventing improper segregation of heterologs in this organism.


2018 ◽  
Vol 63 (3) ◽  
pp. 636-644 ◽  
Author(s):  
Christian Brooks ◽  
Valerie Gausman ◽  
Chanthel Kokoy-Mondragon ◽  
Khushboo Munot ◽  
Sunil P. Amin ◽  
...  

2004 ◽  
Vol 61 (21) ◽  
pp. 2544-2558 ◽  
Author(s):  
Kathleen K. Crahan ◽  
Dean A. Hegg ◽  
David S. Covert ◽  
Haflidi Jonsson ◽  
Jeffrey S. Reid ◽  
...  

Abstract Although the importance of the aerosol contribution to the global radiative budget has been recognized, the forcings of aerosols in general, and specifically the role of the organic component in these forcings, still contain large uncertainties. In an attempt to better understand the relationship between the background forcings of aerosols and their chemical speciation, marine air samples were collected off the windward coast of Oahu, Hawaii, during the Rough Evaporation Duct project (RED) using filters mounted on both the Twin Otter aircraft and the Floating Instrument Platform (FLIP) research platform. Laboratory analysis revealed a total of 17 species, including 4 carboxylic acids and 2 carbohydrates that accounted for 74% ± 20% of the mass gain observed on the shipboard filters, suggesting a possible significant unresolved organic component. The results were correlated with in situ measurements of particle light scattering (σsp) at 550 nm and with aerosol hygroscopicities. Principal component analysis revealed a small but ubiquitous pollution component affecting the σsp and aerosol hygroscopicity of the remote marine air. The Princeton Organic-Electrolyte Model (POEM) was used to predict the growth factor of the aerosols based upon the chemical composition. This output, coupled with measured aerosol size distributions, was used to attempt to reproduce the observed σsp. It was found that while the POEM model was able to reproduce the expected trends when the organic component of the aerosol was varied, due to large uncertainties especially in the aerosol sizing measurements, the σsp predicted by the POEM model was consistently higher than observed.


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