Rheumatoid arthritis (RA) is a systemic autoimmune disease with severe joint inflammation and destruction associated with an inflammatory environment. The etiology behind RA remains to be elucidated; most updated concepts include the participation of environmental, proteomic, epigenetic, and genetic factors. Epigenetic is considered the missing link to explain genetic diversification among RA patients. Within epigenetic factors participating in RA, miRNAs are defined as small noncoding molecules with a length of approximately 22 nucleotides, capable of gene expression modulation, either negatively through inhibition of translation and degradation of the mRNA or positively through increasing the translation rate. Over the last decade and due to the feasibility of the identification of miRNAs among different tissues and compartments, they have been proposed as biomarkers for diagnosis, prognosis, and response to treatment in different pathologies. Nevertheless, miRNAs seem to be important regulators of networks instead of single genes; their hypothetical use as biomarkers needs to rely on a functional integrative description of their effects in the biological process of autoimmune conditions which until now is missing. Therefore, we underwent a bibliographic search for review and original articles related to miRNAs and their possible implications in rheumatoid arthritis. We found 48 different studies using the key words “miRNAs” or “micro-RNAs” and “rheumatoid arthritis” with restriction of publication dates from 2011 to 2016, in humans, using the English language. After a critical reading, we provide in this paper a functional view with respect to miRNA biogenesis, interaction with targets that are expressed in specific cells and tissues, during different stages of inflammatory responses associated with RA, and recognized specific areas where miRNAs might also have a pathogenic role but remain undescribed. Our results will be useful in designing future research projects that can support miRNAs as biomarkers or therapeutic targets in RA.
Human papillomavirus (HPV) is considered the aetiological agent for cervical cancer. Several reports have addressed a relationship with HPV and breast cancer, as different HPVs have been identified. The purpose of this study was to detect HPV DNA in 67 breast cancer patients and 40 non-malignant disease breast tissues by means of Polymerase Chain Reaction with consensus primers. The frequency of HPV in the cases group were 4.4% (3/67) and no positive samples among the reference group were identified. From the 3 positive samples, HPV types 16, 18 and 33 were identified by restriction patterns and direct sequencing. The high diversity among detection in the related studies shows that population genomic heterogeneity plays an important role in the disease. The low frequency detected in the present study suggests that HPV does not play an important role in breast cancer.
The renin-angiotensin system (RAS) is a hormonal signaling mechanism widely known as a blood pressure regulation system. The classic pathway begins with the release of renin (REN), an aspartyl-protease that cleaves angiotensinogen (AGT) to produce angiotensin I (AngI), which is later hydrolyzed by the angiotensin I-converting enzyme (ACE) to produce angiotensin II (AngII); this octapeptide exerts its functions through its specific receptors, angiotensin II receptor type 1 and type 2 (AGTR1 and AGTR2 respectively). 1 Most of the physiological effects such as blood vessel constriction have been attributed to the AGTR1 signaling pathway. In recent years, however, research papers have described mitogenic and angiogenic activities as well, activities that are also mediated through AGTR1. 2,3 Since angiogenesis and proliferative processes are related to the development, progression and metastasis of cancer, it is reasonable to believe that RAS may have a role in cancer. 4 When ACE insertion-deletion (indel) polymorphism was examined as a cancer risk marker, it was associated with gastric, endometrial, prostate and breast cancer. [5][6][7][8][9][10][11][12][13] However, three different AGTR polymorphisms presented contradictory results when studied for breast cancer. [13][14][15] For every biological system each component contributes to the overall effect; therefore, to explain any phenomenon, a more integrated approach is needed. To date, no study has included more than two RAS genes. With this in mind, in the present work we explored the association between breast cancer and some of the major polymorphisms of the four Abstract Recent information has revealed new roles in the angiogenic processes linked to the rennin-angiotensin system. To date few studies have been done on the association between RAS genes and cancer and the majority focus mainly on angiotensin I-converting enzyme (ACE). For breast cancer there are three reports that include the angiotensin II receptor, subtype 1 (AGTR1), only one for angiotensinogen (AGT) and none for renin gene (REN). In the present study we investigate whether REN (BglI), AGT (M235T), ACE (A245T, Indel), and AGTR1 (A1166C) are associated with breast cancer. Polymorphisms were analysed by PCR and RFPLs or sequence specific assay in three groups: breast cancer, benign breast disease (BBD) and general population. REN polymorphism shows that homozygous for A allele have an increased risk for BBD. Differences in M235T genotype frequencies were significant with less heterozygous in breast cancer. With different risk values ACE indel was associated with BBD and breast cancer. Association of AGTR1 was observed only in the breast cancer group, where C allele carriers present a reduced risk. Results of this work supports previous observations on the possible involvement of this system in breast cancer but it also suggests a role in benign disease.
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.
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