RESUMO
Pathological scar is a kind of skin fibrotic disease caused by abnormal wound healing, including hypertrophic scar and keloid. Pathological scar may lead to aesthetic flaws, limb dysfunction and local discomfort in patients. Due to the complexity of the wound healing process, the formation of scar is affected by many factors. In addition to traditional surgical, laser, cryostatic and hormone injection methods for the treatment of pathological scar, there are new therapies, such as mesenchymal stem cell therapy, fat transplantation, interferon, and botulinum toxin. They are widely used in clinical practice, but with such problems as high prices and many side effect. Traditional Chinese medicine (TCM) has a long history in treating pathological scar. In recent years, in vivo and in vitro studies have shown that TCM has effect IN reducing inflammation, inhibiting fibroblast proliferation, regulating fibroblast activation and migration, inducing fibroblast apoptosis and autophagy, promoting the degradation of extracellular matrix (ECM) and reducing angiogenesis in general. Besides, TCM has also a certain regulatory role in the signaling pathways, such as transforming growth factor-β1 (TGF-β1)/Smads, phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/Akt/mTOR) and sonic hedgehog (Shh). There are still some contradictions in relevant studies, and specific mechanisms remain to be further improved. This paper summarizes the study content, findings and relevant mechanisms of different TCM based on in vivo and in vitro experiments, analyzes the advantages and disadvantages of TCM in the prevention and treatment of pathological scar, and its prospects in clinical application, so as to provide basis and ideas for future scar studies.
RESUMO
Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily inherited in an autosomal recessive fashion. Diagnosis of PCD is often a challenging task due to its high clinical and genetic heterogeneities. In the present study, we attempted to use whole-exome sequencing (WES) combined with runs of homozygosity (ROH) approaches to identify the genetic defects in four Chinese consanguineous families with clinical PCD. We successfully identified three recently acknowledged PCD genes: DYX1C1, CCNO and ARMC4, and one well-characterized PCD gene, DNAI1. Our study provides compelling evidence that WES in combination with ROH analysis is an efficient diagnostic tool for identifying genetic causes of PCD in consanguineous families. Furthermore, our work expands the genetic mutation spectrum in PCD, and provides the additional tools to better serve the counseling of the families with PCD.
