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Background. One-third to half of IgA nephropathy (IgAN) patients have raised serum IgA levels. Decreased clearance of IgA/IgA complex has been observed in IgAN patients. FCAR codes for IgA-specific receptor and plays an important role in IgA metabolism. Previous small sample-sized studies reported controversial findings in its association with IgAN.Methods. We re-sequenced the FCAR in 107 IgAN patients and 112 controls. Association of −27T/C and their haplotypes were performed in 606 patients versus 606 controls, its two independent subsets: 293 single patients with family members and 313 cases versus 606 controls. Functional impact of −27T>C and their haplotypes were analyzed by bioinformatics, allelic differential expression and luciferase activity assays. Cell surface FCAR density between −27T/C heterozygous patients and −27T/T homozygous controls was assessed by flow cytometry.Results. −27T>C, on the consensus TATA box of transcription factor-binding motif in the putative promoter of the gene was the only variation identified in all coding, splice-site and known protein-binding sequence in re-sequencing. −27C and its haplotype were associated with IgAN (P = 0.0034/0.0013, 0.0099/0.0054, 0.0129/0.0076 and 0.00039/0.00014 in 606 cases versus 606 controls, family-based study, 313 cases versus 606 controls and meta-analysis, respectively). Bioinformatics predicted 2 bp binding changes by −27C. Allelic differential expression and luciferase activity assays showed a reduced expression/activity by the associated haplotype/allele (P < 0.001). −27T/C heterozygous patients had a lower receptor density on cell surface compared to −27T/T homozygous controls (P < 0.001).Conclusions. Our results provide evidence for genetic variation at the putative promoter region of FCAR conferring susceptibility to IgAN, suggesting −27C and its haplotype may be causative for the susceptibility among the Chinese Han population. [ABSTRACT FROM AUTHOR]

The E-Commerce Law of the People's Republic of China(E-commerce Law) was enacted on August 31, 2018. One of the hottest topics is e-commerce platform operators (EPOs) liability for third-party patent infringement. The EPOs, which provide platform services rather than participating in trade directly, must try to maintain the balance between patentees and social interests. Due to the particularities of the patent infringement review, it is difficult for the EPOs to fulfil the task. Thus, the EPOs liability for copyright and trademark infringement is likely unworkable in the patent area. A China practice review will be helpful in analysing the problem; the guiding case No. 83 is an especially meaningful reference. The E-Commerce Law is principled and advisory - it is impossible to distinguish the limits of EPOs liability for third-party patent infringement by differentiating the patent from other intellectual property rights. After reviewing the regulations on the general and intellectual property duty of care of EPOs, this article argues that the E-Commerce Law still has some specific problems. Consequently, to implement the E-Commerce Law, judicial interpretation and detailed rules for implementation should be formulated as soon as possible, and the potential solutions are described in the conclusion. [ABSTRACT FROM AUTHOR]

Study Objectives: We investigated the associations between multiple sleep dimensions in obstructive sleep apnea (OSA) and carotid intima-media thickness (CIMT), an early sign of atherosclerosis, in participants from the Shanghai Sleep Health Study., Methods: We performed secondary analysis of SSHS in a group of subjects who underwent ultrasound evaluation from 2018 to 2022. Multiple sleep dimensions were measured using standard polysomnography. CIMT was measured from ultrasound images as an early sign of atherosclerosis. Multivariable-adjusted linear regression and logistic regression analyses were performed to detect associations between sleep traits in OSA and CIMT., Results: CIMT was found to increase with increasing severity of OSA ( P < .001). When adjusted for conventional risk factors, microarousal index and hypoxic burden were positively correlated with CIMT, while slow-wave sleep and mean apnea-hypopnea event duration showed a negative correlation with CIMT (all P < .01). In binary logistic regression analysis, participants with a high microarousal index, less slow-wave sleep, higher hypoxic burden, and shorter mean apnea-hypopnea event duration showed a higher prevalence of thick CIMT with no evidence of interaction by age, sex, or body mass index ( P -interaction > .05)., Conclusions: Patients with more severe sleep fragmentation, more severe hypoxemia, and increased arousability were more likely to have increased CIMT after adjusting for potential confounders. It is important to evaluate novel indices of sleep fragmentation, hypoxemia, and arousability in OSA for early detection and prevention of cardiovascular disease, including stroke., Clinical Trial Registration: Registry: Chinese Clinical Trial Registry; Name: Establishing Bio-bank and Cohort of OSAHS in Hospital-based Population; URL: http://www.chictr.org.cn/showproj.aspx?proj=43057; Identifier: ChiCTR1900025714., Citation: Huang W, Zhou E, Zhang J, et al. Association between multiple sleep dimensions in obstructive sleep apnea and an early sign of atherosclerosis. J Clin Sleep Med . 2024;20(7):1093-1104., (© 2024 American Academy of Sleep Medicine.)

Background: Positional OSA (POSA) is a recognized subtype of OSA that exhibits distinct endotypic characteristics when compared with nonpositional OSA (NPOSA). The basis for the disparity in endotypes between these subtypes remains poorly understood., Research Question: (1) Do individuals with NPOSA and POSA have different underlying OSA endotypes? (2) Which endotypic characteristics are critical in determining NPOSA and POSA severity?, Study Design and Methods: Within the Shanghai Sleep Health Study cohort, individuals with OSA were recruited and classified as having POSA or NPOSA. Endotypes were calculated using polysomnography., Results: Endotype analysis was conducted in 1,036 individuals with OSA. Compared with individuals with NPOSA, those with POSA had lower loop gain calculated during all sleep stages and all sleep positions (0.55; interquartile range [IQR], 0.46-0.66 vs 0.68, IQR, 0.52-0.90; P < .001), lower arousal threshold calculated during all sleep stages and all sleep positions (ArTH All ) (138.67; IQR, 118.94-180.87 percentage of the eupneic ventilation [%Veupnea] vs 189.00; IQR, 129.71-257.76 %Veupnea; P < .001), lower pharyngeal collapsibility calculated during all sleep stages and all sleep positions (Vpassive All ) (91.85; IQR, 83.13-95.15 %Veupnea vs 76.38; IQR, 23.77-92.08 %Veupnea; P < .001), and higher muscle compensation calculated during all sleep stages and all sleep positions (6.50; IQR, -6.77 to 16.39 %Veupnea vs 3.65; IQR, -10.47 to 12.14 %Veupnea; P = .003). Logistic regression analyses indicated that higher Vpassive All was associated with increased odds of POSA vs NPOSA. In NPOSA, fully adjusted linear regression analyses indicated that Vpassive All (β = -0.55; 95% CI, -0.68 to -0.42; P < .001) and lower loop gain calculated during all sleep stages and all sleep positions (β = 0.19; 95% CI, 0.08-0.30; P < .001) were significant independent predictors of the apnea hypopnea index, with Vpassive All being the most critical factor. In contrast, in POSA, collapsibility appeared to be less influential (β = -0.09; 95% CI, -0.21 to 0.03; P = .138). Nonanatomic endotypic characteristics (LG All : β = 0.29; 95% CI, 0.18-0.41; P < .001; arousal threshold in all sleep stages and all sleep positions: β = 0.15; 95% CI, 0.01-0.28; P = .031; muscle compensation in all sleep stages and all sleep positions: β = -0.21; 95% CI, -0.29 to -0.12; P < .001) were significant in determining the severity of POSA, with loop gain being the most crucial factor., Interpretation: This study highlights the differences in endotypes between NPOSA and POSA. In Chinese individuals, anatomic factors were more significant in determining the severity of NPOSA, whereas nonanatomic traits were more likely to determine the severity of POSA. Future research should focus on developing personalized management strategies for individuals with NPOSA and POSA based on their endotypes., Trial Registration: Chinese Clinical Trial Registry; No.: ChiCTR1900025714; URL: https://www.chictr.org.cn/indexEN.html., Competing Interests: Financial/Nonfinancial Disclosures None declared., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

The Ultrasound Physician Branch of the Chinese Medical Doctor Association sought to develop evidence-based recommendations on the operational standards for 2-D shear wave elastography examination of musculoskeletal tissues. A consensus panel of 22 Chinese musculoskeletal ultrasound experts reviewed current scientific evidence and proposed a set of 12 recommendations for 13 key issues, including instruments, operating methods, influencing factors and image interpretation. A final consensus was reached through discussion and voting. On the basis of research evidence and expert opinions, the strength of recommendation for each proposition was assessed using a visual analog scale, while further emphasizing the best available evidence during the question-and-answer session. These expert consensus guidelines encourage facilitation of the standardization of clinical practices for collecting and reporting shear wave elastography data., Competing Interests: Conflict of interest The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Objectives: Obstructive sleep apnea hypopnea syndrome (OSA) is an independent risk factor for neurocognitive and behavioral problems and cardiovascular and metabolic morbidities, ultimately increasing mortality. However, OSA diagnosis is time-consuming, labor-intensive, and expensive. We evaluated the predictive utility of the sleep apnea-specific hypoxic burden (SASHB) in terms of OSA and the severity thereof in Han Chinese individuals., Methods: From January 2019 to July 2022, subjects with suspected OSA were recruited in the sleep center of the Shanghai Sixth People's Hospital during sleep evaluation via standard polysomnography. Basic anthropometric measurements and polysomnographic indicators were collected; SASHB was calculated based on the SpO 2 trends of apnea or hypopnea events. Models predictive of OSA were established via logistic regression in the experimental group and verified in an independent group by drawing receiver operating characteristic (ROC) curves., Results: A total of 2303 subjects with suspected OSA (1200 in the experimental group and 1103 in the validation group) were included. SASHB was positively correlated with the apnea-hyponea index (AHI) in all subjects (r = 0.823, P < 0.001). SASHB distinguished OSA from non-OSA subjects in both the experimental group {area under the curve (AUC) 0.948 [0.934∼0.962]} and the validation group (AUC 0.931 [0.913∼0.949]). SASHB predicted OSA severity well, better than did the neck, waist, or hip circumference; the lowest or mean oxygen saturation; and the Epworth sleepiness scale score., Conclusion: SASHB predicted OSA both accurately and efficiently in a Chinese Han population. Further studies are warranted to verify our findings in community samples., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier B.V.)

In our large-scale study, the correlation between obstructive sleep apnea (OSA) related to rapid eye movement (REM) sleep and cardiac autonomic dysfunction was assessed by standard polysomnography (PSG). Cardiac autonomic dysfunction was evaluated by the measurement of heart rate variability (HRV). The cardiovascular disease (CVD) risk was determined using the cross-sectional prevalence of CVD and its overall 10 year risk according to the Framingham risk score (FRS). 4152 individuals were included in the study. A higher apnea-hypopnea index during REM sleep (AHI REM ) was correlated with increased CVD risk. The adjusted odds ratios (95% CIs) for CVD prevalence and its high 10 year risk in participants having severe OSA during REM sleep (AHI REM  ≥30 events/h) were 1.452 (1.012-2.084) and 1.904 (1.470-2.466) in the demographic adjusted model and 1.175 (0.810-1.704) and 1.716 (1.213-2.427) in the multivariate adjusted model, respectively, compared with the group with a AHI REM of <5 events/h. Fully adjusted multivariate linear regression models showed the independent association between AHI REM and a more elevated ratio of low-frequency and high-frequency (LF/HF) and LF in normalised units [LF (n.u.)] (P = 0.042, P = 0.027 in all participants and P = 0.033, P = 0.029 in participants with AHI during non-REM sleep <5 events/h, respectively). Mediation analysis demonstrated that OSA during REM sleep and CVD risk was significantly mediated by LF/HF and LF (n.u.). OSA during REM sleep may be a marker behind CVD risk because it promotes cardiac autonomic dysfunction., (© 2023 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.)

Objective: Autonomic dysfunction is an independent risk factor for cardiovascular disease (CVD). Both obesity and obstructive sleep apnea (OSA) are associated with heart rate variability (HRV) (a hall marker of sympathetic arousal) and increased risk of CVD. This study aims to investigate whether anthropometric parameters could predict reduced HRV in adult OSA during wakefulness., Study Design: Cross-sectional study., Setting: Sleep center of Shanghai Jiao Tong University Affiliated Sixth Hospital from 2012 to 2017., Methods: Total of 2134 subjects (503 non-OSA and 1631 OSA) were included. Anthropometric parameters were recorded. HRV was recorded during a 5-minute wakefulness period and analyzed by using time-domain method and frequency-domain method. Multiple step-wise linear regressions were performed to determine significant predictors of HRV with and without adjustments. Multiplicative interactions between gender, OSA, and obesity on HRV were also determined and evaluated., Results: Waist circumference (WC) was significant negative determinant of root mean square of successive NN intervals (β = -.116, p < .001) and high-frequency power (β = -.155, p < .001). Age was the strongest determining factor of HRV. Significant multiplicative interactions between obesity and OSA on HRV, gender, and obesity on cardiovascular parameters were observed., Conclusion: Anthropometric parameters could predict reduced HRV during wakefulness in patients with OSA, especially WC was the strongest influenceable factor. Obesity and OSA had significant multiplicative interaction on HRV. Gender and obesity had significant multiplicative interaction on cardiovascular parameters. Early intervention for obesity, especially centripetal obesity, may improve reduction of autonomic function and risk of CVD., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Purpose: To evaluate the prevalence, characteristics, and respiratory arousal threshold (ArTH) of Chinese patients with positional obstructive sleep apnea (POSA) according to the Cartwright Classification (CC) and Amsterdam Positional Obstructive Sleep Apnea Classification (APOC)., Methods: A large-scale cross-sectional study was conducted in our sleep center from 2007 to 2018 to analyze the clinical and polysomnography (PSG) data of Chinese POSA patients. Low ArTH was defined based on PSG indices., Results: Of 5,748 OSA patients, 36.80% met the CC criteria, and 42.88% the APOC criteria, for POSA. The prevalence of POSA was significantly higher in women than men (40.21% and 46.52% vs. 36.13% and 42.18% for CC and APOC, respectively). Chinese POSA patients had a lower apnea hypopnea index (AHI) and lower oxygen desaturation index, shorter duration of oxygen saturation (SaO 2 ) < 90%, and a higher mean SaO 2 and higher lowest SaO 2 value compared to subjects with non-positional OSA (NPOSA). More than 40% of the POSA patients had a low ArTH; the proportion was extremely high in the supine-isolated-POSA (si-POSA) group and APOC I group. In multivariate logistic regression analyses, higher mean SaO 2 and lower AHI during sleep were positive predictors of POSA., Conclusions: According to the CC and APOC criteria, more than 1/3 of our Chinese subjects with OSA had POSA. Chinese POSA patients had less severe OSA and nocturnal hypoxia. Compared to NPOSA patients, significantly more patients with POSA had a low ArTH. A low ArTH may be an important endotype in the pathogenesis of POSA, especially in patients with si-POSA and APOC I. Further studies are necessary to develop personalized management strategies for POSA patients., Trial Registration: Chinese Clinical Trial Registry; URL: http://www.chictr.org.cn ; No. ChiCTR1900025714 (retrospectively registered)., (© 2022. The Author(s).)

Different countries have introduced different urgent policies to control the spread of the novel coronavirus. The compliance behavior of these anti-epidemic policies has always been an important concern to governments, and its effects need to be tested. In recent years, many scholars have paid attention to the mechanism and intervention of policy compliance behavior, which helps to explain the mechanism of anti-epidemic compliance behavior, and to improve the effectiveness of anti-epidemic policy. Therefore, considering the characters of youth groups in the context of the novel coronavirus, this study takes campus anti-epidemic compliance behavior as the research topic, based on 680 effective samples of college students in China, in order to examine the effectiveness of these policies using an investigation experiment. This study revealed that the 'Nudge' policy instrument was the most effective way to guide individuals' behavior during the coronavirus outbreak, the 'Sermon' instrument was the least recognized, and the 'Whip' instrument (a traditional and classical policy instrument) had its normal effect on individuals' behavior. Additionally, it found that high accessibility in policy implementation results in more significant policy behavior. By taking the effects of different policy behaviors into consideration, governments may produce better and more effective policy implementation and compliance during the anti-epidemic period.

Denys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein.

Purpose: To report novel transforming growth factor beta-induced (TGFBI) mutations responsible for lattice corneal dystrophy (LCD), the associated genotype-phenotype correlation, and structural changes in the mutant proteins in three Chinese families., Methods: Three unrelated Chinese families were diagnosed as Type I LCD. Mutations in TGFBI were detected by sequencing all of the 17 exons and splice sites of the gene. Phenotype, including corneal erosions, and opacification in the families were compared. Structural changes of the mutant proteins were modeled. One hundred healthy volunteers were recruited as controls for sequence analysis of TGFBI., Results: Two novel mutations, c.(1702G>C and 1706T>A; p.Arg514Pro and Phe515Leu) in TGFBI were identified in Family 1. Two known hotspot mutations, c. 531C>T (p. Arg124Cys) and c.1876A>G (p.His572Arg), were revealed in Family 2 and Family 3, respectively. Sequence analysis in the 100 healthy control subjects, the unaffected members in Family 1, and evolutionary alignment showed that the novel mutations occurred in the conserved amino acids. Structural modeling revealed changes in the 2nd structure of the mutant proteins, but did not detect gross structural changes. Mutations c.(1702G>C and 1706T>A; p.Arg514Pro and Phe515Leu) and the c. 531C>T (p. Arg124Cys) were present in the corneas with sever opacification., Conclusions: The novel mutations c.(1702G>C and 1706T>A; p.Arg514Pro and Phe515Leu), c. 531C>T (p. Arg124Cys), c.1876A>G (p.His572Arg) in TGFBI were responsible for LCD in the 3 families. Mutations c.(1702G>C and 1706T>A) (p.Arg514Pro and Phe515Leu) and the c. 531C>T (p. Arg124Cys) were associated with more severe LCD phenotypes in the families. These results provide more data for molecular diagnosis and prognosis of the disease.

Background: MEGSIN is a gene predominantly expressed in the renal mesangium, and is upregulated in IgA nephropathy (IgAN). Our previous study has shown that the 2093C and 2180T alleles at the 3' untranslated region (3'UTR) of the gene are associated with susceptibility to IgAN, but the relationships of these genetic variants with the clinical manifestations and renal histological lesions of IgAN have not been examined previously., Methods: 302 IgAN patients followed up for 52.8+/-22.5 months were investigated. Haplotypes at the 3'UTR were constructed using the 2093C/T and 2180C/T alleles. The genotype-phenotype relationship was studied by correlations of haplotypes and the clinical data and renal histopathological changes., Results: The 2093C-2180T haplotype was present more often in patients with disease that progressed more rapidly (chi2((C-T/others)) = 8.429, P = 0.004), and was also correlated with hypertension (chi2((C-T/others)) = 6.459, P = 0.012), severe proteinuria (>or=2 g/d) (chi2((C-T/others)) = 6.332, P = 0.013), and Lee's class IV and V histological changes (chi2((C-T/others)) = 9.640, P = 0.008)., Conclusion: In this Chinese population, the 2093C-2180T haplotype at the 3'UTR of MEGSIN gene is associated with more severe forms of IgAN, and more rapid disease progression. This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN.

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome Organisation (HUGO)-approved IDs in the database (last search: August 8, 2004). Following the identification of the SPG6 gene, NIPA1, we have identified two novel mutations, c.316G>C and c.316G>A, in two independent Chinese families linked to the SPG6 locus. These two mutations would cause a p.G106R substitution, and cosegregated with the disease. Structural predictions suggest that p.G106 is located in the third transmembrane domain of the protein, and that the mutant p.G106R disrupts this structure, causing the intramembrane loop to descend into the cytoplasm. Our results identify two novel mutations responsible for HSP and suggest that c.316 of theNIPA1 gene may be a mutational hotspot., ((c) 2005 Wiley-Liss, Inc.)