Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

Acknowledgements The grant of this study was paid by Mashhad University of Medical Sciences, Mashhad, Iran. Funding This study was funded by Mashhad University of Medical Sciences.Peer reviewedPublisher PD

Practical approach to knowledge management implementation in historic buildings restoration

The aim of this investigation is to establish an applicable model for knowledge management implementation that works suitably in organizations involved in projects defined for a historic building such as restoration. Based on a peer review on general approaches in literature, some main improvement potentials are recognized to enable the model to meet with the especial objectives, which shall be considered in such projects. Content analysis was applied to ascertain the new presented model capabilities and improvement in each of three main core components of knowledge management implementation model including peoples, processes, and technologies. We came up with a new conceptual model named as Finger Frame Model with four individual tiers connected with an intelligent communication medium. It is concluded that three main components of KM block diagrams consist of knowledge identification, acquisition, and prevention are appropriately covered in basic tier. The other three components of inner cycle of KM basic diagram consist of using, development, and distribution are also covered in an interface between operators and basic tiers, which together with make lower frame of new presented model. The model is in a continuous improving stage considering self-monitoring processes in an individual tier with the same name, which is located in the upper frame. An upper layer named as goal tier is also located in top frame in which, the main quantitative goals of KM implementation in the project organization are considered. The conceptual diagrams as well as internal processes of each main tier are also presented and discussed. Based on the overall explanations, some main benefits and risks are highlighted for new presented model and outlooks are debated. The model is applied in a real case study and the results are compared with the previous knowledge management implementation model. The results show that the model works efficiently in projects organization related to the historic building restoration

Angiogenesis and Metastasis with a Therapeutic Approach: A Review

Angiogenesis is a process in which new blood vessels produced from old vessels and this process plays an important role in the natural processes in body. Also, angiogenesis in tumor cells leads to further growth of these cells and leads to their metastasis. This process involves migration, proliferation and differentiation of endothelial cells. One of the new ideas that attracted the attention of scientists is to inhibit the angiogenesis process in cancer patients. Scientists are hoping that this method leading to a tumor cells therapy. The purpose of this study was to review the role of angiogenesis in metastasis of tumor cells with a therapeutic approach

An introduction to expression and regulation of cancer/testis antigens (CTAs): review article

Cancer/testis antigens (CTAs) are a kind of antigens that their expression mostly is restricted in testis and female’s genital organs. Tumor cells often express antigens whose expression is normally limited to germ cells. CTAs are composed of a vast gene family of closely related members and are commonly classified into two groups: the CT-X antigens that are encoded by the X chromosome and the non-X CTAs that are encoded by the autosomes. CTA are extensively and variably dispersed between tumors of diverse histotypes. CTA are broadly expressed in tumors, but not in normal tissue except for testis that is not available to the immune system, actually, the blood-testis barrier and the lack of HLA class I expression on the surface of germ cells avoid the immune system from the interaction with CTA proteins to be identified as non-self-structures. Consequently, CTA can be regarded as fundamentally tumor-specific targets. With extensive investigations on the function of this important biological molecules, their functions are somewhat revealed. Because of their high immunogenicity, tumor-limited, and biased expression, detection of these molecules provides unprecedented chances for further research and clinical development in the field of immunotherapy and cancer diagnosis. Also, growing evidence discloses that a number of CTAs stimulate epithelial mesenchymal transition (EMT) and generation of cancer stem-like cells, increasing metastasis, invasion and tumorigenesis. According to recent clinical attention, more features of CTA regulation are explored. CTA expression has been confirmed in a variety of human cancer tissues and some of them have been discovered to cause humoral and/or cellular immune responses in cancer patients, likewise, they displayed intertumor and intratumor heterogeneity in expression levels. CTAs are excellent targets for targeted tumor therapy, anticancer drug discovery, and diagnostic biomarkers, similarly, appreciated genes in the study of promoting tumorigenesis, immunotherapy, and malignant progression. This review summaries and classifies our current understanding of the complex and biased process of CTAs mRNA and protein expression in cancer, and provide the most current information on their function and regulation. &nbsp

The role of efferocytosis in neuro-degenerative diseases

Efferocytosis has a critical role in maintaining tissues and organs’ homeostasis by removing apoptotic cells. It is essential for human health, and disturbances in efferocytosis may result indifferent illnesses. In case of inadequate clearance of the dead cells, the content in the cells would be released. In fact, it induces some damages to the tissue and leads to the prolonged inflammation, so unsuitable phagocytosis of the apoptotic cells is involved in occurrence as well as expansion of numerous human chronic inflammatory diseases. Studies have shown age dependence of the neuro-degenerative diseases, which are largely due to the neuro-inflammation and the loss of neurons and thus cause the brain’s functional disorders. Efferocytosis is coupled to anti-inflammatory responses that contribute to the elimination of the dying neurons in neuro-degenerative diseases, so its disruption may make a risk factor in numerous human chronic inflammatory diseases such as multiple sclerosis, Alzheimer’s disease, glioblastoma, and Rett syndrome. This study is a review of the efferocytosis molecular pathways and their role in neuro-degenerative diseases in order to discover a new treatment option to cure patients

The role of miRNAs in the diagnosis and treatment of male infertility: a review study

Abstract Infertility is a widespread issue that affects over five million couples globally. The cause of this condition can be related to women, men, or both. Male infertility, as a clinical disorder, can be caused by problems in spermatogenesis, testicular development, epididymal, and sperm maturation. Various methods have been proposed to diagnose and treat this disorder, but in some cases, it still remains idiopathic. Nowadays, the investigation of miRNAs is being discussed for the diagnosis and treatment of male infertility. miRNAs are small non-coding RNAs that regulate the expression of many genes after transcription. The aim of this review is to study miRNAs as noninvasive biomarkers for the diagnosis of infertility, as well as proposed treatment strategies and the challenges ahead in these avenues

The atherogenic role of immune cells in familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism that mainly occurs due to mutations in the low-density lipoprotein receptor gene and is characterized by increased levels of low-density lipoprotein cholesterol, leading to accelerated atherogenesis and premature coronary heart disease. Both innate and adaptive immune responses, which mainly include monocytes, macrophages, neutrophils, T lymphocytes, and B lymphocytes, have been shown to play a key role for the initiation and progression of atherogenesis in the general population. In FH patients, these immune cells have been suggested to play specific pro-atherosclerotic activities, from the initial leukocyte recruitment to plaque rupture. In fact, the accumulation of cholesterol crystals and oxLDL in the vessels in FH patients is particularly high, with consequent abnormal mobilization of immune cells and secretion of various pro-inflammatory and chemokines. In addition, cholesterol accumulation in immune cells is exaggerated with chronic exposure to relevant pro-atherosclerotic triggers. The topics considered in this review may provide a more specific focus on the immune system alterations in FH and open new insights toward immune cells as potential therapeutic targets in FH