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.

Analysis of epidemic characteristics of respiratory tract pathogens among children before and after COVID-19 epidemic in Lanzhou / 国际儿科学杂志

Objective:To investigate the distribution and epidemic characteristics of respiratory pathogens in children before and after COVID-19 epidemic in Lanzhou.Methods:Two hundred and eighty-six children hospitalized with acute upper respiratory tract infection in Central Hospital of Gansu Province and Gansu Maternal and Child Health Hospital from October to November of 2020 and October to November of 2021 were selected respectively as the research objects, and a retrospective analysis was made.IgM antibodies of nine pathogens, including influenza virus A(IVA), influenza virus B(IVB), parainfluenza virus(PIV), adenovirus(ADV), mycoplasma pneumoniae(MP), chlamydia pneumoniae(CP), respiratory syncytial virus(RSV), echovirus(ECHO)and coxsackie virus B(CVB), were detected, and the basic information and epidemic characteristics were statistically analyzed.Results:The total positive rates of IgM antibodies of nine pathogens before and after the epidemic in COVID-19 were 31.8%(91/286)and 5.9%(17/286)respectively, after the epidemic, the detection rates dropped significantly, and there was significant difference among them( χ2= 62.505, P<0.05); After the epidemic, the detection rates of ADV, MP and CVB were all lower than those before the epidemic, and there were significant differences among these groups( χ2= 39.281, 12.167, 10.155, all P<0.05). The positive detection rates in the age group of 1 month ~1 year, ~3 years, ~6 years and>6 years before the outbreak were 37.4%(37/99), 38.3%(36/94), 16.7%(12/72)and 28.6%(6/21)respectively, and there were significant differences among these groups( χ2=34.055, P<0.05); Among them, the detection rates of MP in the age group 1 month ~1 year, ~3 years, ~6 years and>6 years were 16.2%(6/37), 25.0%(9/36), 16.7%(2/12)and 100%(6/6)respectively, and there were significant differences among these groups( χ2=10.289, P<0.05); CVB was not detected in>6 years group, the positive detection rates of CVB were 16.2%(6/37), 22.2%(8/36)and 25.0%(3/12)in the age group of 1 month ~1 year, ~3 years, ~6 years respectively, and there were significant differences among these groups( χ2= 27.742, P< 0.05). After the epidemic, the positive detection rates of the patients in the age group of 1 month ~1 year, ~3 years, ~6 years and>6 years were 5.9%(4/68), 4.0%(3/75), 5.7%(6/106)and 10.8%(4/37), with no statistical significance( χ2=2.235, P>0.05); Among them, the positive rates of IVB were 25.0%(1/4), 33.3%(1/3)and 66.7%(4/6)in the age group of 1 month ~1 year, ~3 years, ~6 years respectively, and in the age group>6 years was not detected, and there were significant differences among these groups( χ2= 96.022, P< 0.05). The detection rates of mixed infection of pathogens before and after the epidemic were 5.6%(16/286)and 0.3%(1/286)respectively, with no statistical significance( χ2= 2.314, P>0.05). Conclusion:The distribution of common pathogens of acute upper respiratory tract infection among children in Lanzhou was different before and after COVID-19 epidemic.

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.

Comparison of modified load-sharing rip-stop technique with suture bridge for repair of massive rotator cuff tears / 中华创伤骨科杂志

Objective:To compare modified load-sharing rip-stop (mLSRS) technique with suture bridge (SB) for repair of massive rotator cuff tears.Methods:A retrospective analysis was conducted of the 68 patients who had been treated for massive rotator cuff tears from January 2017 to June 2019 at Department of Orthopedics, Dongyang People's Hospital. They were 26 males and 42 females, aged (63.4±1.0) years (from 45 to 84 years), with 56 right and 12 left sides affected. Of them, 32 were treated by mLSRS and 36 by double-line SB. The 2 groups were compared in terms of visual analog scale (VAS), Constant-Murley scoring, University of California Los Angeles (UCLA) scoring and American Shoulder and Elbow Surgeons (ASES) scoring at the final follow-ups, and Sugaya ultrasonic evaluation of the repair integrity at postoperative 12 months.Results:There was no statistically significant difference in preoperative general data between the 2 groups, showing they were comparable ( P>0.05). Operations were successful in all patients who were followed up for 13 to 44 months (average, 19.7 months). No patient suffered from such complications as joint infection or anchor withdrawal. At the final follow-up, the mLSRS group scored respectively 0.9±0.6, 85.3±4.8, 33.1±1.0 and 86.4±5.0 in VAS, Constant-Murley, UCLA and ASES scores, significantly improved than their preoperative values (7.2±0.8, 47.0±3.1, 15.8±3.0 and 48.5±4.5) ( P<0.05); the SB group scored respectively 1.1±0.6, 86.6±3.4, 33.2±1.1 and 86.9±4.6 in the above indicators, also significantly improved than their preoperative values (7.3±0.7, 46.5±4.7, 14.4±2.7 and 48.8±4.3) ( P<0.05); there were no significant differences between the 2 groups in preoperative or postoperative values ( P> 0.05). The Sugaya ultrasonic evaluation showed no significant difference in rotator cuff healing between the 2 groups at postoperative 12 months ( P>0.05); according to the positions of re-tears, the SB group had significantly more type Ⅱ re-tears (20%, 2/10) than the mLSRS group (0, 0/4) ( P<0.05). Conclusion:Although both mLSRS and SB techniques can achieve satisfactory and comparable clinical outcomes in arthroscopic repair of massive rotator cuff tears, mLSRS may lead to fewer postoperative type Ⅱ re-tears than SB.

Study on the association between vitamin D receptor gene polymorphism of ApaI and BsmI and vitamin D deficiency rickets / 中国医师杂志

ObjectiveTo study the distribution characters and linkage disequilibrium of vitamin D receptor(VDR) gene ApaI and BsmI polymorphism,and explore the genetic susceptibility of VDR and vitamin D deficiency rickets.MethodsVDR gene ApaI and BsmI polymorphisms were determined by PCRRFLP technology in 56 cases of rickets and 76 cases of normal children.The frequencies of the VDR genotype and allele were compared between the two groups.The software SHEsis was used to make linkage disequilibrium analysis.Results No significant difference was found in either the frequency distribution of VDR gene ApaI and BsmI polymorphism or allele of them between two groups; Two polymorphisms didn't show linkage disequilibrium and D' and r2 were 0.23 and 0.01,respectively.ConclusionsThe ApaI and BsmI polymorphism of VDR gene might be not associated with vitamin D deficiency rickets.Two polymorphisms didn't show linkage disequilibrium.