The Molecular Genetics of Marfan Syndrome.

Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity, MFS severely impacts the quality of life of the patients. It has been shown that molecular genetic factors serve critical roles in the pathogenesis of MFS. FBN1 is associated with MFS and the other genes such as FBN2, transforming growth factor beta (TGF-ß) receptors (TGFBR1 and TGFBR2), latent TGF-ß-binding protein 2 (LTBP2) and SKI, amongst others also have their associated syndromes, however high overlap may exist between these syndromes and MFS. Abnormalities in the TGF-ß signaling pathway also contribute to the development of aneurysms in patients with MFS, although the detailed molecular mechanism remains unclear. Mutant FBN1 protein may cause unstableness in elastic structures, thereby perturbing the TGF-ß signaling pathway, which regulates several processes in cells. Additionally, DNA methylation of FBN1 and histone acetylation in an MFS mouse model demonstrated that epigenetic factors play a regulatory role in MFS. The purpose of the present review is to provide an up-to-date understanding of MFS-related genes and relevant assessment technologies, with the aim of laying a foundation for the early diagnosis, consultation and treatment of MFS.

Animal Model Contributions to Primary Congenital Glaucoma.

Primary congenital glaucoma (PCG) is an ocular disease characterized by congenital anterior segmental maldevelopment with progressive optic nerve degeneration. Certain genes, such as cytochrome P450 family 1 subfamily B member 1 and latent TGF-ß-binding protein 2, are involved in the pathogenesis of PCG, but the exact pathogenic mechanism has not yet been fully elucidated. There is an urgent need to determine the etiology and pathophysiology of PCG and develop new therapeutic methods to stop disease progression. Animal models can simulate PCG and are essential to study the pathogenesis and treatment of PCG. Various animal species have been used in the study of PCG, including rabbits, rats, mice, cats, zebrafish, and quails. These models are formed spontaneously or by combining with genetic engineering technology. The focus of the present study is to review the characteristics and potential applications of animal models in PCG and provide new approaches to understand the mechanism and develop new treatment strategies for patients with PCG.

Nosocomial infection of COVID­19: A new challenge for healthcare professionals (Review).

Nosocomial infections, also known as hospital-acquired infections, pose a serious challenge to healthcare professionals globally during the Coronavirus disease 2019 (COVID­19) pandemic. Nosocomial infection of COVID­19 directly impacts the quality of life of patients, as well as results in extra expenditure to hospitals. It has been shown that COVID­19 is more likely to transmit via close, unprotected contact with infected patients. Additionally, current preventative and containment measures tend to overlook asymptomatic individuals and superspreading events. Since the mode of transmission and real origin of COVID­19 in hospitals has not been fully elucidated yet, minimizing nosocomial infection in hospitals remains a difficult but urgent task for healthcare professionals. Healthcare professionals globally should form an alliance against nosocomial COVID­19 infections. The fight against COVID­19 may provide valuable lessons for the future prevention and control of nosocomial infections. The present review will discuss some of the key strategies to prevent and control hospital­based nosocomial COVID­19 infections.

Aberrant PTEN, PIK3CA, pMAPK, and TP53 expression in human scalp and face angiosarcoma.

ABSTRACT: Angiosarcoma is a rare, highly aggressive malignant tumor originating from endothelial cells that line the lumen of blood or lymphatic vessels. The molecular mechanisms of scalp and face angiosarcoma still need to be elucidated. This study aimed to investigate the expression of phosphatase and tensin homolog (PTEN), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), phosphorylated mitogen-activated kinase-like protein (pMAPK), and tumor protein p53 (TP53) in scalp and face angiosarcoma and to assess tumor tissue apoptosis.The expression and intracellular distribution of PTEN, PIK3CA, pMAPK, and TP53 proteins in 21 specimens of human scalp and face angiosarcoma and 16 specimens of human benign hemangioma were evaluated using immunohistochemistry. Tumor cell apoptosis was assessed by terminal deoxyribonucleotide transferase-mediated dUTP nick end-labeling staining.Significantly lower PTEN but higher PIK3CA, pMAPK, and TP53 immunostaining were detected in the angiosarcoma specimens than in the benign hemangioma specimens(P < .01). The angiosarcoma tissues exhibited significantly higher apoptosis indices than the benign hemangioma tissues (P < .01). The positive expression rates of PIK3CA, pMAPK, and TP53 were correlated with the degree of tumor differentiation in the human scalp and face angiosarcoma.The PI3K, MAPK, and TP53 pathways might be involved in angiosarcoma tumorigenesis in humans and may serve as therapeutic targets for the effective treatment of this malignancy.