1,720,975 research outputs found
Aspergillus niger prolyl endopeptidase in celiac disease
No full textWe comment here on the article by Stefanolo et al entitled “Effect of Aspergillus niger prolyl endopeptidase in patients with celiac disease on a long-term gluten-free diet”, published in the World Journal of Gastroenterology. Celiac disease is a well-recognized systemic autoimmune disorder. In genetically susceptible people, the most evident damage is located in the small intestine, and is caused and worsened by the ingestion of gluten. For that reason, celiac patients adopt a gluten-free diet (GFD), but it has some limitations, and it does not prevent re-exposure to gluten. Research aims to develop adjuvant therapies, and one of the most studied alternatives is supplementation with Aspergillus niger prolyl endopeptidase protease (AN-PEP), which is able to degrade gluten in the stomach, reducing its concentration in the small intestine. The study found a high adherence to the GFD, but did not address AN-PEP as a gluten immunogenic peptide reducer, as it was only tested in patients following a GFD and not in gluten-exposing conditions. This study opens up new research perspectives in this area and shows that further study is needed to clarify the points that are still in doubt
Role of high-dose amoxicillin dual therapy for Helicobacter pylori eradication in an Irish cohort: A prospective study
No full text: Helicobacter pylori (H. pylori) infections may cause chronic gastritis, peptic ulcer disease, gastric cancers, and other conditions outside of the gastrointestinal tract. Hence, it is important to diagnose and treat it early. H. pylori is resistant to certain drugs in traditional eradication therapy, so alternative therapy protocols are needed, such as high-dose amoxicillin dual therapy (HDADT). This article aims to comment on a recent paper by Costigan et al in the World Journal of Clinical Cases. In this study, the authors recruited 139 patients diagnosed with H. pylori, all treated with HDADT. Of these, 93 were treatment-naïve and 46 had received at least one alternative treatment in the past. Four weeks after the end of the treatment, the urea breath test was administered to estimate the eradication rate. The total eradication rate was 56% (78/139), 62% for the treatment-naïve arm and 43% for the previous treatment arm, thus indicating a lower success rate for the arm that had previously received a different treatment regimen. In conclusion, a therapeutic approach with first-line HDADT may potentially be a better treatment, but the results are not sufficient to recommend the use of this regimen in a country with high levels of dual resistance
The Role of the Immune Response to Helicobacter pylori Antigens and Its Relevance in Gastric Disorders
Full text linkHelicobacter pylori (H.p.) is a Gram-negative bacterium endowed with gastric tropism. H.p. infection is widely spread throughout the world, accounting for various pathologies, such as peptic ulcer, gastric cancer, mucosa-associated lymphoid tissue lymphoma, and extra-gastric manifestations. This bacterium possesses several virulence factors, e.g., lipopolysaccharides (LPS), the toxins CagA and VacA, and adhesins, which elicit a robust immune response during the initial phase of the infection. Of note, the lipid A moiety of the LPS exhibits a lower endotoxic potency than that of other LPSs, thus facilitating infection through a mechanism of immune escape. H.p. colonization of the gastric mucosa induces an initial protective immune response with innate immune cells, e.g., neutrophils, monocytes, and macrophages, which engulf and kill bacteria. Moreover, the same cells, along with gastric epithelial cells, secrete cytokines and chemokines, which recruit T cells [T helper (h)1 and Th17 cells] to the site of infection, thus leading to H.p. eradication. In a large subset of individuals, the perturbation of such an immune equilibrium leads to a harmful response, with an expansion of T regulatory (TREG) cells, which suppress the protective immune response. In fact, TREG cells, via the production of interleukin (IL)-10, downregulate Th1- and Th17-related cytokines, thus allowing H.p. survival and the perpetuation of inflammation. As far as the humoral immune response is concerned, B cells, upon H.p. stimulation, produce autoreactive antibodies, and IgG anti-Lex antibodies are harmful to the gastric mucosa. In this review, the structure and function of H.p. antigenic components and immune mechanisms elicited by this bacterium will be described in relation to gastric damage
Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes
No full textThe vast majority of neuroendocrine 'neoplasms (NENs) are sporadic, although recent evidence has indicated that a subset of these cancers may also originate as a result of genetic germline mutations. To date, 10% of these cancers can be linked to an inherited genetic syndrome. Genetic diagnosis is crucial for patients with a suspected hereditary NEN syndrome, as it recognizes patients carrying germline mutations and allows for personalized clinical follow-up, considering the higher risk of developing other tumours. The potential for early genetic detection has significant implications for the treatment of patients with hereditary NEN syndrome, as it may facilitate the delivery of precision therapy that differs from that typically provided to other patients. Thus, the integration of genotypic and phenotypic diagnostic methods help clinicians to provide more informed treatment and to extend appropriate prevention to family members
Microbiota revolution: How gut microbes regulate our lives
Full text linkThe human intestine is a natural environment ecosystem of a complex of diversified and dynamic microorganisms, determined through a process of competition and natural selection during life. Those intestinal microorganisms called microbiota and are involved in a variety of mechanisms of the organism, they interact with the host and therefore are in contact with the organs of the various systems. However, they play a crucial role in maintaining host homeostasis, also influencing its behaviour. Thus, microorganisms perform a series of biological functions important for human well-being. The host provides the microorganisms with the environment and nutrients, simultaneously drawing many benefits such as their contribution to metabolic, trophic, immunological, and other functions. For these reasons it has been reported that its quantitative and qualitative composition can play a protective or harmful role on the host health. Therefore, a dysbiosis can lead to an association of unfavourable factors which lead to a dysregulation of the physiological processes of homeostasis. Thus, it has pre-viously noted that the gut microbiota can participate in the pathogenesis of autoimmune diseases, chronic intestinal inflammation, diabetes mellitus, obesity and atherosclerosis, psychic disorders (e.g., neurological diseases, autism, etc.) colorectal cancer, and more
KRAS and BRAF concomitant mutations in a patient with metastatic colon adenocarcinoma: an interesting case report
Full text linkA 68-year-old female patient with tenesmus and blood in the stool was admitted to the S.G. Moscati Hospital of Taranto. Investigations revealed infiltrative mucinous colon adenocarcinoma accompanied by lymph node metastases. Following surgery and adjuvant chemotherapy, computed tomography (CT) and carcinoembryonic antigen screening were negative. Two years later, CT demonstrated a liver lesion. Histologic and genetic analyses confirmed the diagnosis of metastatic colorectal cancer with the coexistence ofKRASandBRAFmutations in hepatic metastases and the presence of theBRAFV600E in the primary tumour. It is unclear whether the lack of response was due toBRAFmutations, but the data suggest that mutatedBRAFconfers resistance to anti-epidermal growth factor receptor therapy. In our patient,BRAFmutation turned out to be a negative prognostic factor, and it may have been the cause of clinical implications for disease progression and therapeutic responses
Primary Failure of Eruption: Clinical and Genetic Findings in the Mixed Dentition
Full text linkCONTROL ID: 2639647
TITLE: Primary Failure of Eruption: Clinical and Genetic Findings in the Mixed Dentition
AUTHORS (FIRST NAME INITIAL LAST NAME): C. Grippaudo1, I. D'Apolito1, C. Cafiero1, B. Ricci1, S. A. Frazier-
Bowers2
AUTHORS/INSTITUTIONS: C. Grippaudo, I. D'Apolito, C. Cafiero, B. Ricci, Dental Institute, Università Cattolica,
Rome, ITALY|S.A. Frazier-Bowers, Department of Orthodontics, University of North Carolina, Chapel Hill, North
Carolina, UNITED STATES|
PREFERRED PRESENTATION TYPE: Oral
CURRENT SCIENTIFIC GROUPS & NETWORKS: Craniofacial Biology
ABSTRACT BODY:
Objectives: Eruption disorders represent an enigmatic aspect of dental and orthodontic diagnosis. Since the discovery
that Primary Failure of Eruption (PFE, MIM #125350) is due to a genetic defect, several mutations of the PTH1R gene
have been identified as causative. This study aimed to refine our understanding of the phenotype:genotype correlation
of PFE and PTH1R mutations in the mixed dentition. This characterization may lead to improved diagnostic
approaches and provide the foundation for downstream mechanistic studies to understand the pathogenesis of
PTH1R mutations.
Methods: DNA was extracted from saliva samples of 29 patients (3 families and 23 unrelated individuals) who
presented with clinical evidence of infraoccluded teeth. Mutational analysis was completed for the coding regions of
PTH1R gene following PCR amplification and direct sequencing.
Results: Eight of 29 cases revealed a heterozygous pathogenic variant in the PTH1R gene; 5 of 8 variants represent
distinct mutations within the cohort. One mutation (c.1765 T>C p.Trp89Arg) was found to segregate within a family
(n=3) represented by two generations. Mutational analysis using the dbSNP, HGMD and the ESP databases identified
the mutations were previously unreported. In silico analyses of all variants further predicted a putative pathogenic
effect. Extended clinical analysis of the cohrot verified that all the novel mutations co-segregated with the PFE
phenotype that included affection of the mixed dentition. Six of the 8 patients carrying a functional PTH1R mutation
were children in mixed dentition with one or more primary teeth affected.
Conclusions: We report that PFE in the mixed and permanent dentition positively correlates with pathogenic mutations
in the PTH1R gene. Further studies to identify additional genes and correlate the pathogenesis of PFE from mixed to
permanent dentition are ongoing and forthcoming.
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TABLE FOOTER: (No Tables)
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KEYWORDS: Primary failure of eruption (PFE), orthodontics, Dental eruption, genetics, mixed dention.
Support Funding Agency/Grant Number - Abstracts:
Financial Interest Disclosure: NONE
AWARDS:
Group Author Abstracts - Abstract:
Session Chair Volunteers - Abstracts: Not Interested
Special Scheduling Needs - Abstracts:
Student Status - Abstracts: No
Student Other Designation - Abstracts:
Abstract Submission - Track Selection: Clinician Trac
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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