Experience of Treating Bronchiectasis by Using Mahuang Shengma Decoction （麻黄升麻汤） / 中医杂志

This paper summarized the experience in treating bronchiectasis with Mahuang Shengma Decoction （麻黄升麻汤）. The pathogenesis of bronchiectasis is “lung-spleen qi deficiency” as the root， and “phlegm-heat obstructing the lung” as the branch. The key point of treatment is to improve the internal environment of phlegm， heat， and deficiency. According to clinical experience， Mahuang Shengma Decoction is good at raising the yang qi to dissipate fire， clearing the upper and warming the lower， which is in accord with the pathogenesis of bronchiectasis. In clinical practice， Mahuang Shengma Decoction is usually used as the basic formula， and the heat-clearing medicinals and center-warming medicinals of the formula will be adjusted according to the abnormal exuberance of heat or cold of the pathogenesis； and the formula can also be modified in accordance with the symptoms. At the same time， importance should be attached to the application of Mahuang （Herba Ephedrae）， and its dosage should be flexibly adjusted according to the constraint degree of the pathogenic qi， so as to expel the constraint fire， bank up earth to generate metal， regulate heat and cold simultaneously， and treat both the root and the branch.

Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

O'Sullivan-McLeod Syndrome: A Case Report / 罕见病研究

O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China / 中南大学学报(医学版)

Objective: Spinocerebellar ataxia type 2 (SCA2) is one of the most common autosomal dominant ataxias in the world. Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. Thus, the aim of this study is to evaluate the effect of CAG repeats on the AAO of patients with SCA2 in China.Methods:A total of 119 patients with SCA2 were enrolled and were divided into 2 groups according to their major phenotype:17 patients from 9 families with Parkinson ' s syndrome were grouped as the Parkinson ' s disease-SCA2 (PD-SAC2); 91 patients from 66 SCA2 families and 11 sporadic SCA2 patients were grouped as the ataxia-SCA2 (A-SCA2). Blood samples were obtained from the subjects, and the CAG repeat length in ATXN2 and other (CAG)n-containing genes was screened using fluorescent PCR. The Spearman ' s rank correlation between the CAG repeat length in (CAG)n-containing genes and AAO was analyzed. Regression analysis was performed to investigate whether the CAG repeat length could explain the variant of AAO. A t-test was used to compare the difference of CAG repeat length in (CAG)n-containing genes between the PD-SAC2 and A-SCA2 groups. Results:The CAG repeat length in the longer allele of ATXN2 was negatively correlated with AAO of SCA2 (R=?0.251, P<0.05), and the CAG repeat length could explain 41.7％of the variation of AAO. AAO negatively correlated with the CAG repeat length in the shorter allele of ATXN7 (R=?0.251, P=0.006) or in the longer allele of TBP gene (R=?0.197, P=0.034). A tendency of delay in the AAO was also observed in patients with SCA2 carrying the CAG repeat within the ATXN3, CACNA1A, ATXN7, TBP, and RAI1. In addition, we found that the CAG repeat length in ATXN7 and ATXN2 between the A-SCA2 and the PD-SCA2 groups was significantly different (both P<0.05).Conclusion:The CAG repeat in ATXN2 is a major genetic factor for the AAO of patients with SCA2 in China. The CAG repeat length in ATXN3, CACNA1A, ATXN7, TBP, and RAI1 genes might be a potential factor associated with the AAO of SCA2. The CAG repeat in ATXN7 might be a potential factor affecting the Parkinson??s syndrome in SCA2.

Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network

Additional sex combs-like 1 (ASXL1) interacts with BRCA1-associated protein 1 (BAP1) deubiquitinase to oppose the polycomb repressive complex 1 (PRC1)-mediated histone H2A ubiquitylation. Germline BAP1 mutations are found in a spectrum of human malignancies, while ASXL1 mutations recurrently occur in myeloid neoplasm and are associated with poor prognosis. Nearly all ASXL1 mutations are heterozygous frameshift or nonsense mutations in the middle or to a less extent the C-terminal region, resulting in the production of C-terminally truncated mutant ASXL1 proteins. How ASXL1 regulates specific target genes and how the C-terminal truncation of ASXL1 promotes leukemogenesis are unclear. Here, we report that ASXL1 interacts with forkhead transcription factors FOXK1 and FOXK2 to regulate a subset of FOXK1/K2 target genes. We show that the C-terminally truncated mutant ASXL1 proteins are expressed at much higher levels than the wild-type protein in ASXL1 heterozygous leukemia cells, and lose the ability to interact with FOXK1/K2. Specific deletion of the mutant allele eliminates the expression of C-terminally truncated ASXL1 and increases the association of wild-type ASXL1 with BAP1, thereby restoring the expression of BAP1-ASXL1-FOXK1/K2 target genes, particularly those involved in glucose metabolism, oxygen sensing, and JAK-STAT3 signaling pathways. In addition to FOXK1/K2, we also identify other DNA-binding transcription regulators including transcription factors (TFs) which interact with wild-type ASXL1, but not C-terminally truncated mutant. Our results suggest that ASXL1 mutations result in neomorphic alleles that contribute to leukemogenesis at least in part through dominantly inhibiting the wild-type ASXL1 from interacting with BAP1 and thereby impairing the function of ASXL1-BAP1-TF in regulating target genes and leukemia cell growth.

An analysis of insomnia and its influencing factors in patients with acute coronary syndrome / 中华内科杂志

Objective:To investigate the current situation of insomnia in patients with acute coronary syndrome (ACS), and analyze the influencing factors of insomnia in the ACS patients, so as to provide information on the development of new strategies for the treatment of insomnia in ACS patients.Methods:This is a multicenter and prospective observational study. A total of 771 ACS patients who met the criteria were selected from March 2013 to June 2015. The baseline social demographic information, sleep quality questionnaire, general anxiety disorder scale-7(GAD-7),patient health questionnaire-9(PHQ-9), short-form 12 health survey questionnaire(SF-12), and enhancing recovery in coronary heart disease patients social inventory(ESSI) were completed within 7 days after admission. Logistic regression analyses were used to analyze the influencing factors of insomnia in ACS patients.Results:A total of 741 subjects with valid questionnaires were collected, including 510 males (68.8%) and 231 females (31.2%). Among them, 487 (65.7%) subjects had at least one insomnia symptom: 308 (41.6%) subjects had difficulty in falling asleep, 369 (49.8%) subjects were easy to wake at night, 116 (15.7%) subjects woke up earlier than they expected, 74 (10.0%) subjects experienced both woke up earlier and difficulty in falling asleep, and 53 (7.2%) subjects woke up earlier, woke up at night and had difficulty in falling asleep at the same time. Logistic regression analyses showed that before admission physical activity ( OR =0.636, 95% CI 0.411-0.984), depression ( OR=1.908, 95% CI 1.101-3.305) and low social support ( OR=0.278, 95% CI 1.198-3.301) were independent factors of insomnia in ACS patients. Conclusions:Nearly 2/3 ACS patients have symptoms of insomnia. Difficulty in falling asleep and easy to wake up at night are the most common manifestations. Physical activity, depression and social support independently are associated with insomnia.

Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years / 神经科学通报·英文版

This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the target population of 142,086 children, 88.5% (n = 125,806) participated in the study. A total of 363 children were confirmed as having ASD. The observed ASD prevalence rate was 0.29% (95% CI: 0.26%-0.32%) for the overall population. After adjustment for response rates, the estimated number of ASD cases was 867 in the target population sample, thereby achieving an estimated prevalence of 0.70% (95% CI: 0.64%-0.74%). The prevalence was significantly higher in boys than in girls (0.95%; 95% CI: 0.87%-1.02% versus 0.30%; 95% CI: 0.26%-0.34%; P < 0.001). Of the 363 confirmed ASD cases, 43.3% were newly diagnosed, and most of those (90.4%) were attending regular schools, and 68.8% of the children with ASD had at least one neuropsychiatric comorbidity. Our findings provide reliable data on the estimated ASD prevalence and comorbidities in Chinese children.

Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years / 神经科学通报·英文版

This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the target population of 142,086 children, 88.5% (n = 125,806) participated in the study. A total of 363 children were confirmed as having ASD. The observed ASD prevalence rate was 0.29% (95% CI: 0.26%-0.32%) for the overall population. After adjustment for response rates, the estimated number of ASD cases was 867 in the target population sample, thereby achieving an estimated prevalence of 0.70% (95% CI: 0.64%-0.74%). The prevalence was significantly higher in boys than in girls (0.95%; 95% CI: 0.87%-1.02% versus 0.30%; 95% CI: 0.26%-0.34%; P < 0.001). Of the 363 confirmed ASD cases, 43.3% were newly diagnosed, and most of those (90.4%) were attending regular schools, and 68.8% of the children with ASD had at least one neuropsychiatric comorbidity. Our findings provide reliable data on the estimated ASD prevalence and comorbidities in Chinese children.

Efficacy comparison of primary percutaneous coronary intervention by drug-coated balloon angioplasty or drug-eluting stenting in acute myocardial infarction patients with de novo coronary lesions / 中华心血管病杂志

Objective: To compare the safety profile, angiographic and clinical outcomes between drug-coated balloon(DCB) only strategy versus drug eluting stent(DES) implantation in primary percutaneous coronary intervention(PCI) for acute myocardial infarction(AMI) patients. Methods: A total of 380 AMI patients who underwent primary PCI in Beijing Chaoyang Hospital from January 2016 to May 2019 were enrolled. They were allocated into DEB group(n=180) or DES group(n=200). The Primary endpoint was the major adverse cardiac events(MACE) in hospital and within 3 months after discharge, the composite event of cardiac death, non-fatal myocardial infarction(MI), target vessel revascularization(TVR) and in stent thrombosis. The secondary endpoints included: (1)TIMI blood flow grade and myocardial perfusion grade (TMP grade) of infarct-related vessels before and after PCI. (2)The degree of ST segment resolution(STR) between half hour and two hours after PCI, and STR was represented by percentage of summed ST-segment reduction between baseline and post-PCI. Using the most significant lead of ST segment elevation, calculating the rate of decline in the ST segment after treatment; or the most significant lead of the ST segment depression, to calculate the rate of recovery in the ST segment after treatment. STR<50% was defined as incomplete STR. (3)The occurrence of coronary artery dissection during operation. (4)The peak value of myocardial enzymes. (5)The incidence of bleeding in hospital and within 3 months after discharge. The inverse probability weighting method based on propensity score (IPTW) was used to compare the effects of the two treatments on MACE occurrence in the logistic regression model. Results: There was no significant difference in sex, age, risk factors of coronary heart disease, type and site of AMI, interventional therapy data(P>0.05) between the two groups. The ratio of bifurcation lesions in DCB group was significantly higher than that in DES group, and the diameter of the DCB was smaller while the length was longer than that of DES (all P<0.05). One death occurred in each group during hospitalization. Compared with the DES group, the incidence of MI ［2.8%(5/180) vs. 0.5% (1/200), P=0.10］ and TVR ［2.8%(5/180) vs. 0.5%(1/200), P=0.10］ in the DCB group during hospitalization showed an increasing trend, and were mostly associated with delayed coronary dissection. The incidence of MACE was similar between the two groups (3.3%(6/180) and 1.0%(2/200), P=0.15) during hospitalization. There was no MACE occurred in the two groups within 3 months after discharge. There was no significant difference between the two groups in TIMI grade, TMP grade, incomplete STR rate and peak value of myocardial enzyme (all P>0.05). The incidence of coronary artery dissection was significantly higher in DCB group than in DES group (8.3%(15/180) and 3.0%(6/200), P=0.02), but most of them were type B or A dissection and did not need special treatment. There was no significant difference in bleeding event between the two groups(P=0.91). Logistic regression analysis showed that there was no difference in the risk of MACE during hospitalization between DES and DCB groups for AMI patients receiving PCI (compared with DCB, OR=0.35, 95%CI 0.08-1.43, P=0.13). Conclusions: The initial safety and efficacy profiles of DCB are similar with those of DES for the AMI patients during PCI. The study highlights that the incidence of coronary dissection (type A or B) is higher post DCB treatment than post DES, but it does not affect blood flow. However, the incidence of in-hospital MI due to delayed coronary dissection trends to be higher post DCB. So we should pay close attention to the risk of delayed coronary dissection after DCB in AMI patients with de novo lesion.

Application of rituximab in children with primary nephrotic syndrome / 医学研究生学报

Childhood primary nephrotic syndrome (PNS) is a challenging and persistent renal disorder. Corticosteroids is the first-line drug for the treatment of PNS. To reduce the side effects caused by the accumulation of corticosteroids dose and to maintain the remission state of the disease, immunosuppressants are applied to the treatment of PNS. However, many children with PNS still cannot get remission. Rituximab (RTX) is a novel immunosuppressive agent. In recent years, many studies have reported the treatment of PNS in children with RTX. This review analyzes the mechanism, course of treatment, dose, efficacy, and safety of RTX in the treatment of children with PNS.

The nephrogenic adenoma of the bladder: 8 cases and literature review / 中华泌尿外科杂志

Objective:To analyze the clinical characteristics of nephrogenic adenoma of the bladder.Methods:The clinical and pathological data of 8 patients with bladder nephrogenic adenoma, during the period from July 2016 to June 2019, were retrospectively analyzed. Patients’ age were 33 to 71 years old and the average age was 55, including 5 males and 3 females. The clinical manifestations were hematuria in 7 cases, urinary tract irritation in 6 cases, and no obvious symptoms in 1 case. There were 7 cases with cystitis, 3 cases with urolithiasis, 2 cases with bladder cancer, 1 case with invasive colonic mesentery fibroma, and 1 case without other complications. 5 cases had the history of urological operation. The predilection site was the lateral wall with 5cases; 5 cases were solitary; the average maximum diameter of the tumor was 0.9 cm (range 0.1-1.8 cm). Under cystoscope, papillary mass can be seen, the surface is bright red, the pedicle is not obvious, the papilla is thick and short, easy to bleed when touching; some of them are scattered and lichen like changes. All patients received transurethral resection of bladder mucosa.Results:Pathological examination shows that the bladder mucosa showed chronic inflammation, interstitial edema, granulation tissue hyperplasia, eosinophil infiltration and metaplasia of mesonephroid epithelium. All of the 8 patients were followed up by telephone for 2 to 38 months, with an average of 17.1 months. So far, neither recurrence has been detected.Conclusions:The diagnosis of nephrogenic adenoma of the bladder depends on pathological examination. It must be totally removed during operation. The recurrence and malignancy should be treated in time after operation.

Comparing the effects of depression, anxiety, and comorbidity on quality-of-life, adverse outcomes, and medical expenditure in Chinese patients with acute coronary syndrome / 中华医学杂志(英文版)

Background:@#Depression and anxiety have been correlated with elevated risks for quality-of-life (QOL), adverse outcomes, and medical expenditure in patients with acute coronary syndrome (ACS). However, the relevant data are lacking for Chinese ACS populations, especially regarding different effects of major depression, anxiety, and comorbidity. The objective of this study was to evaluate the dynamic changes of depression and/or anxiety over 12 months and examine the effects of depression, anxiety, and comorbidity on QOL, adverse outcomes, and medical expenditure in Chinese patients with ACS.@*Methods:@#For this prospective longitudinal study, a total of 647 patients with ACS were recruited from North China between January 2013 and June 2015. Among them, 531 patients (82.1%) completed 12-month follow-ups. Logistic regression model was utilized for analyzing the association of baseline major depression, anxiety, and comorbidity with 12-month all-cause mortality, cardiovascular events, QOL, and health expenditure.@*Results:@#During a follow-up period of 12 months, 7.3% experienced non-fatal myocardial infarction (MI) and 35.8% cardiac rehospitalization. Baseline comorbidity, rather than major depression/anxiety, strongly predicted poor 12-month QOL as measured by short-form health survey-12 (odds ratio [OR]: 1.77, 95% confidence interval [CI]: 1.22–2.52, P = 0.003). Regarding 12-month non-fatal MI and cardiac re-hospitalization, baseline anxiety (OR: 2.83, 95% CI: 1.33–5.89, P < 0.01; OR: 4.47, 95% CI: 1.50–13.00, P < 0.01), major depression (OR: 2.58, 95% CI: 1.02–6.15, P < 0.05; OR: 5.22, 95% CI: 1.42–17.57, P < 0.03), and comorbidity (OR: 6.33, 95% CI: 2.96–13.79, P < 0.0001, OR: 14.08, 95% CI: 4.99–41.66, P < 0.0001) were all independent predictors, and comorbidity had the highest predictive value. Number of re-hospitalization stay, admission frequency within 12 months and medical expenditure within 2 months were the highest in patients with ACS with comorbidity.@*Conclusions:@#Major depression and anxiety may predict 12-month non-fatal MI and cardiac re-hospitalization. However, comorbidity has the highest predictive value with greater medical expenditure and worse QOL in Chinese patients with ACS. And depression with comorbid anxiety may be a new target of mood status in patients with ACS.

Research progress of specific biomarkers in IgA nephropathy / 医学研究生学报

IgA nephropathy (IgAN) is the most common primary glomerular disease in the worldwide, and its immunopathological features are mainly the deposition of IgA in glomerular mesangial region and / or vascular loop. It has been found that the expression and changes of some factors involved in the pathological injury of IgAN can provide some evidence for the diagnosis, evaluation and prognosis of IgAN. This paper reviews the research progress of IgAN biomarkers in Multiple-Hits theory, miRNAs, complement system and cytokines.

A novel splicing mutation identified in a Chinese family with Alport syndrome and analysis of its pathogenicity / 医学研究生学报

Objective The purpose of this study was to identify a pathogenic variant in a Chinese family with Alport syndrome and analyze the pathogenicity of the variant. Methods Using targeted region capture and high-throughput sequencing technology, we identified the genetic variant of the proband with Alport syndrome, verified the variant in the family members by Sanger sequencing, and analyzed its influence on the pre-mRNA splicing process by in vitro minigene assay. Results A heterozygous variant c.2767G>T (p.Gly923Cys) was identified as a novel variant in exon 32 of the COL4A5 gene in the proband, which was confirmed by Sanger sequencing to be cosegregated with disease in the family. The minigene assay demonstrated that the c.2767G>T variant induced deletion of exon 32 of the COL4A5 gene. Conclusion A novel COL4A5 mutation was identified by targeted region capture and high-throughput sequencing, which has enriched the gene mutation spectrum of Alport syndrome. The exonic mutation c.2767G>T confirmed to be a splicing mutation by in vitro minigene assay, which may lead to a deeper insight into the molecular pathogenesis of Alport syndrome.

Serum lipid profile in children with different subtypes of juvenile idiopathic arthritis / 中国当代儿科杂志

OBJECTIVE@#To study the serum lipid profile in children with different subtypes of juvenile idiopathic arthritis (JIA) during active and remission stages, as well as the long-term risk of atherosclerosis in children with JIA.@*METHODS@#A total of 128 children newly diagnosed with active JIA were divided into oligoarticular JIA group with 48 children, polyarticular JIA group with 38 children, systemic JIA group with 22 children, and enthesitis-related JIA group with 20 children. According to the presence or absence of rheumatoid factor (RF), the polyarticular JIA group was further divided into RF-positive polyarticular JIA group with 15 children and RF-negative polyarticular JIA group with 23 children. A total of 45 children who underwent physical examination were randomly selected as healthy control group. The serum levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were measured and compared between groups. Blood lipid parameters were reexamined for 87 children in the remission stage after treatment and were compared with those in the active stage.@*RESULTS@#Compared with the healthy control group, the systemic JIA group and the RF-positive polyarticular JIA group had a significant reduction in HDL-C and a significant increase in TG (P0.05). There were no significant differences in blood lipid parameters between the other subtype JIA groups and the healthy control group (P>0.05). The RF-positive polyarticular JIA group had a significant increase in plasma HDL-C from the active stage to the remission stage (P0.05).@*CONCLUSIONS@#Dyslipidemia may be observed in the active stage of children with systemic and RF-positive polyarticular JIA, with improvement in the remission stage of children with RF-positive polyarticular JIA. Further studies are needed to observe the long-term risk of atherosclerosis.

Comparing the effects of depression, anxiety, and comorbidity on quality-of-life, adverse outcomes, and medical expenditure in Chinese patients with acute coronary syndrome / 中华医学杂志(英文版)

BACKGROUND@#Depression and anxiety have been correlated with elevated risks for quality-of-life (QOL), adverse outcomes, and medical expenditure in patients with acute coronary syndrome (ACS). However, the relevant data are lacking for Chinese ACS populations, especially regarding different effects of major depression, anxiety, and comorbidity. The objective of this study was to evaluate the dynamic changes of depression and/or anxiety over 12 months and examine the effects of depression, anxiety, and comorbidity on QOL, adverse outcomes, and medical expenditure in Chinese patients with ACS.@*METHODS@#For this prospective longitudinal study, a total of 647 patients with ACS were recruited from North China between January 2013 and June 2015. Among them, 531 patients (82.1%) completed 12-month follow-ups. Logistic regression model was utilized for analyzing the association of baseline major depression, anxiety, and comorbidity with 12-month all-cause mortality, cardiovascular events, QOL, and health expenditure.@*RESULTS@#During a follow-up period of 12 months, 7.3% experienced non-fatal myocardial infarction (MI) and 35.8% cardiac re-hospitalization. Baseline comorbidity, rather than major depression/anxiety, strongly predicted poor 12-month QOL as measured by short-form health survey-12 (odds ratio [OR]: 1.77, 95% confidence interval [CI]: 1.22-2.52, P = 0.003). Regarding 12-month non-fatal MI and cardiac re-hospitalization, baseline anxiety (OR: 2.83, 95% CI: 1.33-5.89, P < 0.01; OR: 4.47, 95% CI: 1.50-13.00, P < 0.01), major depression (OR: 2.58, 95% CI: 1.02-6.15, P < 0.05; OR: 5.22, 95% CI: 1.42-17.57, P < 0.03), and comorbidity (OR: 6.33, 95% CI: 2.96-13.79, P < 0.0001, OR: 14.08, 95% CI: 4.99-41.66, P < 0.0001) were all independent predictors, and comorbidity had the highest predictive value. Number of re-hospitalization stay, admission frequency within 12 months and medical expenditure within 2 months were the highest in patients with ACS with comorbidity.@*CONCLUSIONS@#Major depression and anxiety may predict 12-month non-fatal MI and cardiac re-hospitalization. However, comorbidity has the highest predictive value with greater medical expenditure and worse QOL in Chinese patients with ACS. And depression with comorbid anxiety may be a new target of mood status in patients with ACS.

Research advances on the advantages and disadvantages of SMILE and FS-LASIK on correction of myopia / 国际眼科杂志(Guoji Yanke Zazhi)

In modern society, the most popular surgery for correction of myopia and myopic astigmatism are small incision lenticule extraction ( SMILE ) and femtosecond assisted laser in situ keratomileusis ( FS-LASIK ) . FS-LASIK is widely accepted by myopic patients and corneal refractive surgeons for its excellent safety, efficacy, stability and predictability. With the use of femtosecond laser, SMILE makes the corneal refractive surgery enter a full femtosecond era and become one of the most popular refractive surgery in the world, which is a novel minimally invasive corneal refractive surgery and characterized by flap - free, minimally invasive, small incision, femtosecond. But there is still some controversy about visual acuity, stability of diopter, corneal high order aberration, contrast sensitivity, dry eye, corneal biomechanical property and complication after SMILE and FS-LASIK in correction of myopia. This article reviews the advantages and disadvantages after SMILE and FS-LASIK in correction of myopia and myopic astigmatism among all above mentioned aspects.

Screening for, andVariants in a Cohort of Chinese Patients with Charcot-Marie-Tooth / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.</p><p><b>METHODS</b>A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.</p><p><b>RESULTS</b>We identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.</p><p><b>CONCLUSIONS</b>SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.</p>

Analysis of efficacy of rituximab in treating primary focal segmental glomerulosclerosis in children / 医学研究生学报

Objective There are few studies on children with primary focal segmental glomerulosclerosis (FSGS) treated with rituximab (RTX).This study aimed to analyze the side effects and safety of the single dose of RTX in 10 children with primary FSGS, and further provide reference for the RTX treatment of FSGS . Methods We retrospectively analysed the clinical data of 10 FSGS children who hospitalized in the department of pediatrics in Nanjing General Hospital of Nanjing Military Area Command from April 2014 to August 2017.24 hours urinary protein, serum albumin, the count of circulating CD20+B cells and the RTX adverse reactions were analyzed after the treatment of RTX . Results From the 10 ca-ses, 6 cases were steroid-resistant nephrotic syndrome (SRNS), and 4 cases were frequently relapsing /steroid dependent nephrotic syn -drome (FRNS/SDNS).After single dose of RTX treatment , 5 cases achieved complete remission (CR), 2 partial remission (PR), and 3 non-remission (NR).Among the 6 cases of SRNS, 2, 1, 3 ca-ses achieved CR, PR, NR respectively; Among the 4 cases of FRNS/SDNS, CR was achieved in 3 patients, PR was achieved in 1 pa-tient.3 months after RTX treatment, urinary protein decreased from [2.41 (0.89-6.82) g/24 h] to [0.43 (0.05-1.1) g/24h], ser-um albumin increased from [31.60 (13.00-38.22) g/L] to [38.30 (27.18-53.20) g/L] .Adverse reactions occurred in 1 case in-cluding fever, chills, and chest tightness.These adverse reactions relieved after the decreased of RTX infusion speed .One developed severe pneumonia and proteinuria one month after RTX treatment .There was no increase in the number of infections in other children and no abnormalities in the respiratory tract , digestive tract, and nervous system during follow-up. Conclusion RTX treatment of primary FSGS has high security and has no serious adverse reactions .It is one of the effective treatments for children with FSGS .

The recognition of clinical application of glucocorticoids / 医学研究生学报

Because of the significant anti-inflammatory and immunosuppressive effects,glucocorticoids (GCs) have been widely used in clinic However,adverse reactions caused by long-term use of GCs and glucocorticoid resistance (GR) are always troublesome problems in clinical department.Therefore,it is the hot point to explore the ways to reduce adverse reactions of GCs and to improve sensitivity of GCs.In this article,we mainly discuss new strategies of reducing adverse reactions and improving sensitivity of GCs.