Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1).@*METHODS@#A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.@*RESULTS@#The child's clinical features included abdominal distension, hepatomegaly, anemia and tendency of bleeding. By mass spectrometry analysis, her serum and urine tyrosine and succinylacetone levels have both exceeded the normal ranges. WES and Sanger sequencing revealed that she has harbored c.1062+5G>A and c.943T>C (p.Cys315Arg) compound heterozygous variants of the FAH gene, which were inherited from her father and mother, respectively. Among these, the c.943T>C was unreported previously.@*CONCLUSION@#Considering her clinical phenotype and result of genetic testing, the child was diagnosed with TYRSN1 (acute type). The compound heterozygous variants of the FAH gene probably underlay the disease in this child. Above finding has further expanded the spectrum of FAH gene variants, and provided a basis for accurate treatment, genetic counseling and prenatal diagnosis for her family.

Expert consensus on clinical practice in perioperative nursing for elderly patients with hip fracture (version 2023) / 中华创伤杂志

Hip fracture is considered as the most severe osteoporotic fracture characterized by high disability and mortality in the elderly. Improved surgical techniques and multidisciplinary team play an active role in alleviating prognosis, which places higher demands on perioperative nursing. Dysfunction, complications, and secondary impact of anaesthesia and surgery add more difficulties to clinical nursing. Besides, there still lack clinical practices in perioperative nursing for elderly patients with hip fracture in China. In this context, led by the Orthopedic Nursing Committee of Chinese Nursing Association, the Expert consensus on clinical practice in perioperative nursing for elderly patients with hip fracture ( version 2023) is developed based on the evidence-based medicine. This consensus provides 11 recommendations on elderly patients with hip fracture from aspects of perioperative health education, condition monitoring and inspection, complication risk assessment and prevention, and rehabilitation, in order to provide guiding advices for clinical practice, improve the quality of nursing and ameliorate the prognosis of elderly patients with hip fracture.

Circular RNAs in the pathogenesis of sepsis and their clinical implications: A narrative review

INTRODUCTION@#Sepsis is defined as a life-threatening complication that occurs when the body responds to an infection attacking the host. Sepsis rapidly progresses and patients deteriorate and develop septic shock, with multiple organ failure, if not promptly treated. Currently no effective therapy is available for sepsis; therefore, early diagnosis is crucial to decrease the high mortality rate. Genome-wide expression analyses of patients in critical conditions have confirmed that the expression levels of the majority of genes are changed, suggesting that the molecular basis of sepsis is at the gene level. This review aims to elucidate the role of circular (circ) RNAs in the pathogenesis of sepsis and sepsis-induced organ damage. In addition, the feasibility of using circRNAs as novel diagnostic biomarkers for sepsis is also discussed, as well as circRNA-based therapy.@*METHOD@#This narrative review is based on a literature search using Medline database. Search terms used were "circular RNAs and sepsis", "circRNAs and sepsis", "non-coding RNAs and sepsis", "ncRNAs and sepsis", "circRNAs and septic pathogenesis", "circRNAs and septic model", "circRNAs and septic shock" and "circRNAs, biomarker, and sepsis".@*RESULTS@#Numerous studies indicate that circRNAs might exert pivotal roles in regulating the immune system of the host against various pathogens, such as bacteria and viruses. Dysregulation of circRNA expression levels has been confirmed as an early event in sepsis and associated with the inflammatory response, immunosuppression and coagulation dysfunction. This impairment in regulation eventually leads to multiple organ dysfunctions, including of the kidneys, lungs and heart.@*CONCLUSION@#By investigating the regulation of circRNAs in sepsis, new molecular targets for the diagnosis and intervention of sepsis can be identified. Such an understanding will be important for the development of therapeutic drugs.

Progress of Personalized Interior Femoral Anatomical Plate with 3D Printing Technology / 现代生物医学进展

Currently,independent clinical medial femoral plate is more needed to apply in more complex C3 distal femoral fractures and knee valgus orthopedic surgery.The doctors always pre-bent the contralateral femoral lateral plate in order to achieve close to the natural shape of the bone.The cold deformation of the plate can change the metallographic structure and the biomechanics,and the position of the screw holes in the plate may also affect the healing of fractures.Compared with traditional manufacturing techniques,3D printing technology as a core technology in third industrial revolution,instead prior manufacture of molds,removing the large amount of material in the manufacturing process and the complex process of forging a final product,it is more suitable for difficult to machine materials,manufacture,inspection shape design,assembly,testing and fast reverse engineering.Therefore,a personalized interior distal femoral plate with 3D printing technology was designed,and the application of the plate,the current situation and prospects of 3D printing technology and other aspects were summarized in this article.

Preparation of serum total cholesterol,total glycerol,free glycerol and triglycerides reference materials / 中华检验医学杂志

Objective To prepare serum cholesterol and triglycerides reference materials.Methods Blood units were collected from healthy donors and the sera separated and screened for cholesterol and triglycerides levels.Four serum pools were prepared by pooling sera grouped according to cholesterol and triglyceride levels.The materials were tested for homogeneity and stability and their values for total cholesterol,total glycerol and free glycerol and triglycerides were assigned by HPLC methods.Results The materials were tested to be homogeneous and stable for at least 4 years at-20℃.The certified values (reference value±expanded uncertainty)of the 4 materials for total cholesterol were(5.110±0.065) mmol/L,(4.761±0.062)mmol/L,(3.941±0.050)mmol/L and(3.158±0.041)mmol/L,respectively;for total glycerol(2.212±0.043)mmol/L,(1.679±0.033)mmol/L,(1.275±0.027)mmol/L and(1.067±0.023)mmol/L;for free glycerol(0.142±0.005)mmol/L,(0.149±0.004)mmol/L,(0.146±0.003)mmol/L and(0.122±0.003)mmol/L;and for triglycerides(2.069±0.043)mmol/L,(1.530±0.033)mmol/L,(1.129±0.027)mmol/L and(0.945±0.023)mmol/L.Conclusion Certified reference materials for serum total cholesterol,total glycerol,free glycerol and triglycerides have been prepared.

Effects of Fuzheng Yiliu Granule-medicated serum on apoptosis of liver cancer cells from mice and its mechanism / 中西医结合学报

OBJECTIVE: To study the effects of Fuzheng Yiliu Granule (FZYLG)-medicated serum on apoptosis of liver cancer cells H22 from mice and its mechanism. METHODS: Liver cancer cells H22 from mice were incubated in culture media containing sera from rabbits medicated with different doses of FZYLG. Flow cytometry was used to examine the cell cycle and analyze the apoptotic rate of the H22 cells. The morphological changes of the H22 cells were observed by transmission electron microscope and the apoptosis related proteins Bcl-2 and Bax were examined by streptavidin-biotin peroxidase complex (SABC) method. RESULTS: FZYLG-medicated serum could influence the cell cycle and stop the proliferation of H22 cells at the G(1)/G(0) phase with apoptotic peak being detected. In culture media with FZYLG-medicated sera, the expression of Bcl-2 decreased while that of Bax increased as compared with that in culture medium with non-medicated serum (P<0.05). CONCLUSION: FZYLG-medicated serum can induce apoptosis of the liver cancer cells H22 by influencing the cell cycle, down-regulating the expression of Bcl-2 and up-regulating the expression of Bax.