Search results for "GENI"

Mice are not Men: ADAM30 Findings Emphasize a Broader Look Towards Murine Alzheimer's Disease Models

2016

Due to the growing population of people at advanced age, the number of patients affected by Alzheimer's disease (AD) is increasing tremendously. In 2015 about 46.8 million people suffered from AD worldwide which is estimated to increase to 131.5 million by 2050. Brains of AD patients all show a common histopathology; they are marked by an atrophy and degeneration that is caused by a severe loss of neurons and synapses (Braak and Del Tredici, 2012). Moreover, so-called extracellular senile plaques that consist of predominantly amyloid β (Aβ) peptides can be detected in the grey matter where they surround neurons. Since generation of Aβ peptides is hypothesized to play a major role in AD path…

Cytoplasmic body myopathy revisited.

2018

Potential Influence of Helminth Molecules on COVID-19 Pathology

2020

In recent months, the parasitology research community has been tasked with investigation of the influence of parasite coinfection on coronavirus disease 2019 (COVID-19) outcomes. Herein, we share our approach to analyze the effect of the trematode Fasciola hepatica as a modulator of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and of COVID-19 pathology.

Detection of human papillomavirus DNA in formalin-fixed, paraffin-embedded squamous papillomas of the oral cavity

2018

Background Squamous papillomas are exophytic proliferations of surface oral epithelium. Human papillomavirus (HPV) infection is widely accepted as the etiology of squamous papillomas however the virus cannot be detected in a significant percentage of lesions. Material and methods Using polymerase chain reaction (PCR), we tested 35 formalin-fixed paraffin-embedded (FFPE) squamous papillomas for the presence of HPV DNA. Results Six papillomas (17%) tested positive for HPV DNA; four contained HPV-6 and two contained HPV-11. Given that β-globin DNA was only identified in half of the samples, DNA degradation appears to have significantly impacted the results. Conclusions The results likely repre…

Detection of mast cells in ameloblastomas and odontogenic keratocysts

2020

Background MCs (MCs) have been ascribed to mediating several diseases, including malignant neoplasms. These cells can play a role in angiogenesis, tissue remodeling and immune modulation and favor neoplasm progression. Despite the studies analyzing the contribution of MCs in odontogenic lesions, its biological behavior in ameloblastomas (AMBs) and odontogenic keratocysts (OKCs) remains unclear. This study aims to detect MCs in OKCs and AMBs and clarify the role of MCs in these lesions. Material and methods A total of 40 odontogenic lesions were analyzed. This included 20 OKCs and 20 AMBs, 10 being the solid type and the other 10 being the unicystic type of AMB. All cases were histologically…

NF1 microdeletion syndrome: case report of two new patients

2019

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

2017

IF 1.590; International audience; Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.Case presentation: We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC)…

Expression of claudin-5, claudin-7 and occludin in oral squamous cell carcinoma and their clinico-pathological significance

2015

Background: Claudin and occludin are the important tight junctions protein in human. The downregulation or upregulation of claudins and occludin might have a role in cancer development. The objective of this study was to investigate the expression of claudin-5, claudin-7 and occludin in oral squamous cell carcinoma (OSCC) and their relationships with the prognostically-related clinico-pathologic features. Material and Methods: Standard indirect immunohistochemical technique using anti-claudin-5, anti-claudin-7 and anti-occludin was performed in formalin-fixed paraffin-embedded tissue sections of 66 OSCC samples from Faculty of Dentistry, Chulalongkorn University. The positive cases were div…

Lymphatic Endothelial Cells Control Initiation of Lymph Node Organogenesis

2017

Lymph nodes (LNs) are strategically situated throughout the body at junctures of the blood vascular and lymphatic systems to direct immune responses against antigens draining from peripheral tissues. The current paradigm describes LN development as a programmed process that is governed through the interaction between mesenchymal lymphoid tissue organizer (LTo) cells and hematopoietic lymphoid tissue inducer (LTi) cells. Using cell-type-specific ablation of key molecules involved in lymphoid organogenesis, we found that initiation of LN development is dependent on LTi-cell-mediated activation of lymphatic endothelial cells (LECs) and that engagement of mesenchymal stromal cells is a succeedi…

Prospective risk of stillbirth and neonatal complications in twin pregnancies: systematic review and meta-analysis

2016

Twin pregnancies are at increased risk of stillbirth. Uncomplicated twin pregnancies are commonly delivered earlier to prevent stillbirth; however, there is a risk of neonatal complications associated with being born prior to 39 weeks’ gestation. The optimal gestational age for delivery in twin pregnancies is unknown and likely varies by chorionicity. The present study aimed to determine the prospective risk of stillbirth in women with uncomplicated monochorionic and dichorionic twin pregnancies, and neonatal mortality risks, when delivered beyond 34 weeks of gestation. Data on twin pregnancies that reported rates of stillbirth were obtained from MEDLINE, EMBASE, and Cochrane Library. Separ…