Heterozygous carriers of the survival of motor neuron 1 (SMN1) gene deletion in parents account for approximately 95% of neonatal spinal muscular atrophy cases. Given the severity of the disease, professional organizations have recommended periconceptional spinal muscular atrophy carrier screening to all couples, regardless of race or ethnicity. However, the prevalence of screening activities in mainland China remains suboptimal, mainly attributed to the limitations of the existing carrier screening methods. Herein, we aimed to develop a low-cost, accessible, and accurate carrier screening method based on duplex droplet digital PCR (ddPCR), to cover a wider population in developing countries, including China. The receiver operating characteristic curve was used to determine the cut-off value of SMN1 copy numbers. Performance validation was conducted for linearity, precision, and accuracy. In total, 482 cases were considered to validate the concordance between the developed ddPCR assay and multiplex ligation-dependent probe amplification. Linear correlations were excellent between the expected concentration of the reference gene and the observed values (R2 > 0.99). Both the intra- and inter-assay precision of our ddPCR assays were less than 6.0%. The multiplex ligation-dependent probe amplification and ddPCR results were consistent in 480 of the 482 cases (99.6%). Two cases with multiplex ligation-dependent probe amplification, suggestive of two copies of SMN1 exon 7, were classified into three copies by ddPCR analysis. The overall correct classification of the samples included in our ddPCR assay was 100%. This study demonstrates that an appropriate cut-off value is an important prerequisite for establishing a semi-quantitative method to determine the SMN1 copy numbers. Compared to conventional methods, our ddPCR assay is low-cost, highly accurate, and has full potential for application in population spinal muscular atrophy carriers screening.

UNASSIGNED: This study evaluated whether anthropometric measurements and the five times sit-to-stand test could be used to identify dynapenia. The cut-off values of accurate screening tools for identifying dynapenia were also established.
UNASSIGNED: This was a cross-sectional study conducted on individuals ≥ 60 years old (N = 529). All participants underwent handgrip strength measurement, anthropometric measurements and the five times sit-to-stand test. The participants whose handgrip strength was < 28 kg for men and < 18 kg for women were considered to have dynapenia. The association between the recorded variables and dynapenia was determined using logistic regression, and cut-off values were established by performing the Receiver Operating Characteristic curve analysis.
UNASSIGNED: The prevalence of dynapenia was 35.42% in men and 25.61% in women. For males, both calf circumference (≤ 35.2 cm) and the five times sit-to-stand test (≥ 14.6 s) could be used as accurate tools for dynapenia. For females, only the five times sit-to-stand test (≥ 11.8 s) had sufficient accuracy to be used as a screening tool for dynapenia.
UNASSIGNED: The five times sit-to-stand test was an accurate screening tool for identifying dynapenia. The calf circumference could be only used as a screening tool in males.
Calf circumference and the five times a sit-to-stand test can be used as accurate screening tools in males with dynapenia.Only the five times sit-to-stand test had sufficient accuracy in females with dynapenia.The optimal cut-off values established for older males and females are only applicable to the Asian population.

OBJECTIVE: To establish reference intervals (RIs) for PTX-3 and to validate the performance of these RIs in a population including healthy volunteers and Takayasu\'s arteritis (TAK) patients.
METHODS: Plasma PTX-3 levels were determined in 166 healthy volunteers and 63 TAK patients. RIs were established in healthy volunteers according to guidelines from the Clinical and Laboratory Standards Institute (CLSI, C28-A3). Global assessment was used to quantitatively diagnose active/non-active TAK patients. Screening and monitoring performances were validated by identifying active TAK patients from the whole population or diagnosed TAK patients.
RESULTS: The PTX-3 RI was calculated to be 0.87-2.78 ng/mL. For screening purposes, 1.55 ng/mL had a high sensitivity of 90.32 % and the RI upper limit (2.78 ng/mL) had a high specificity of 97.94 %. For monitoring purposes, the sensitivity/specificity of the cut-off value (1.55 ng/mL) and RI median were 90.32 %/90.63 % and 80.85 %/90.63 %, respectively. These screening and monitoring performances of PTX-3 were superior to those of C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR).
CONCLUSIONS: The distribution of serum PTX-3 levels was stable and uniform across the population. The screening and monitoring performances of the cut-off value and RI-derived values of PTX-3 were higher than CRP and ESR.

Antiviral therapy improves the clinical outcomes of patients with chronic hepatitis B (CHB), including those with cirrhosis. In the present study, we validated the Baveno VII definition of recompensation and explored the criteria for stable improvement of liver function tests in entecavir-treated patients with CHB-related decompensated cirrhosis.
In this multicentre prospective study, patients with decompensated (ascites) CHB-related cirrhosis were enrolled and treated with entecavir for 120 weeks. Patients were followed up for clinical events, viral and biochemical tests, and ultrasonography every 6 months. The recompensation rate per Baveno VII criteria was calculated. Multivariate regression models were used to identify the predictors of recompensation. Finally, the criteria for stable improvement of liver function tests were explored.
Of the 320 recruited patients, 283 completed the 120-week study, with 261/283 (92.2%) achieving HBV DNA levels <20 IU/ml and 171/283 (60.4%) achieving resolution of ascites, encephalopathy, and absence of recurrent variceal bleeding for at least 12 months. We identified model for end-stage liver disease <10 and/or liver function tests within Child-Pugh Class A (albumin >35 g/L, international normalised ratio <1.50 and total bilirubin <34 μmol/L) as the criteria for stable improvement of liver function tests. Accordingly, 56.2% (159/283) of patients fulfilled the Baveno VII definition of recompensation with a stable improvement of liver function tests defined by the current study.
Our study defined the criteria for a stable improvement of liver function tests required by the Baveno VII definition of recompensation in patients with CHB-related decompensated cirrhosis on antiviral therapy. The criteria derived from this multicentre prospective study warrant further validation in patients with cirrhosis of other aetiologies.
Decompensation of cirrhosis marks the point at which the liver is no longer able to function normally (and symptoms become apparent). Recently the idea of recompensation was proposed for individuals who may experience an improvement in liver function if the underlying cause of their liver disease is addressed (e.g. antivirals for viral cirrhosis). Herein, we show that over 50% of patients with hepatitis B-related decompensated cirrhosis treated with antivirals could recompensate and we propose laboratory criteria which could be used to define recompensation.

OBJECTIVE: Our previous studies have suggested that the first trimester fasting plasma glucose (FPG) level is associated with gestational diabetes mellitus (GDM) and is a predictor of GDM. The aim of the present study was to provide valuable insights into the accuracy of the first trimester FPG level in the screening and diagnosis of GDM in southern China.
METHODS: This retrospective study included pregnant women who had their first trimester FPG level recorded at 9-13+6 weeks and underwent screening for GDM using the 2-h 75 g oral glucose tolerance test (OGTT) between the 24th and 28th gestational weeks. Differences between the GDM and non-GDM groups were assessed by Student\'s t test and the chi-squared test according to the nature of the variables. A restricted cubic spine was used to explore the relationship between the first trimester FPG level and the odds ratio (OR) of GDM in pregnant women. Cut-off values of first trimester FPG were determined using receiver operating characteristic (ROC) curves and the area under the curve (AUC), and 95% confidence intervals (CIs), the positive predictive value (PPV) and the negative predictive value (NPV) were calculated.
RESULTS: The medical records of 28,030 pregnant women were analysed, and 4,669 (16.66%) of them were diagnosed with GDM. The average first trimester FPG level was 4.62 ± 0.37 mmol/L. The OR of GDM increased with increasing first trimester FPG levels and with a value of first trimester FPG of approximately 4.6 mmol/L, which was equal to 1 (Chi-Square = 665.79, P < 0.001), and then started to increase rapidly afterwards. The ROC curve for fasting plasma glucose in the first trimester (4.735 mmol/L) for predicting gestational diabetes mellitus in pregnant women was 0.608 (95% CI: 0.598-0.617), with a sensitivity of 0.490 and a specificity of 0.676.
CONCLUSIONS: Based on the research, we recommend that all pregnant women undergo FPG testing in the first trimester, particularly at the first antenatal visit. Furthermore, we suggest that the risks of GDM should be given increased attention and management as soon as the first trimester FPG value is more than 4.7 mmol/L. First trimester FPG levels should be considered a screening marker when diagnosing GDM in pregnant women but this needs to be confirmed by more prospective studies. These factors may have a significant impact on the clinical treatment of pregnant women.

Aim: Increasing studies have demonstrated lymph node ratio (LNR) to be an accurate prognostic indicator in breast cancer and an alternative to pN staging; however, the AJCC-TNM staging system classified apical or infraclavicular/ipsilateral supraclavicular lymph node-positive (APN(+)) patients with a worse prognosis as the pN3 stage. Until now, different reports on LNR in breast cancer have ignored this possibility. Consequently, it is necessary to discuss the role of APN(+) patients in the LNR system to obtain a precise LNR that predicts the prognosis accurately. Materials and Methods: We collected data on 10,120 breast cancer patients, including 3,936 lymph node-positive patients (3,283 APN(-) and 653 APN(+) patients), who visited our hospital from 2007 to 2012. Then we applied X-tile analysis to calculate cut-off values and conduct survival analysis and multivariate analysis to evaluate patients\' prognosis. Results: We confirmed that some APN(+) patients were mis-subgrouped according to previously reported LNR, indicating that APN(+) patients should be excluded in the application of LNR to predict prognosis. Then we applied X-tile analysis to calculate two cut-off values (0.15 and 0.34) for LNR-APN(-) patients and conducted survival analysis and found that LNR-APN(-) staging was superior to pN staging in predicting the prognosis of APN(-) breast cancer patients. Conclusion: From this study, we conclude that excluding APN(+) patients is the most necessary condition for effective implementation of the LNR system. LNR-APN(-) staging could be a more comprehensive approach in predicting prognosis and guiding clinicians to provide accurate and appropriate treatment.

BACKGROUND: Most prior studies investigating the risk of ovarian malignancy algorithm (ROMA) with cancer antigen 125 (CA125) and human epididymis protein 4 (HE4) have involved Caucasian population or other populations. To date, there have been no unique calculations of predicted probability (PP) risk specifically for Chinese populations to help physicians in primary care settings.
METHODS: A group of 534 women with ovarian tumor diagnoses were enrolled and serum HE4 and CA125 were measured in each individual. Modified cut-off values were obtained by maximizing area under the curve (AUC) values and adjusted by using logistic regression with corresponding sensitivity (SN), specificity (SP), Youden index (YI), positive predictive value (PPV), and negative predictive value (NPV).
RESULTS: By utilizing the ideal PPV, NPV, and AUC values, in premenopausal women modified HE4, CA125, ROMA, and PP cut-off values were 73.87 pmol/L, 61.60 U/mL, 18.47%, and 0.168, respectively. The same test values for postmenopausal women were 120.90 pmol/L, 76.21 U/mL, 26.48%, and 0.485, respectively. The SN for HE4 with the modified cut-off value was significantly lower than that for CA125 (P=0.040) in premenopausal women and lower than that for ROMA (P=0.001) and PP (P=0.044) in postmenopausal women. The AUC values for CA125, ROMA, and PP were all significantly higher than that for HE4 (P=0.006, 0.007, and 0.002, respectively) in postmenopausal women.
CONCLUSIONS: The modified cut-off values for HE4, CA125, ROMA, and PP with ideal SN, SP, YI, NPV, PPV were useful of ruling out ovarian malignancy among both pre- and post-menopausal women. In premenopausal women modified HE4, CA125, ROMA, and PP cut-off values were 73.87 pmol/L, 61.60 U/mL, 18.47%, and 0.168, respectively and in postmenopausal women were 120.90 pmol/L, 76.21 U/mL, 26.48%, and 0.485, respectively.

This study investigated the latent classes of sleep quality based on the Pittsburgh Sleep Quality index (PSQI) in Chinese adults, and analyzed whether these latent classes differed between men and women. A total of 982 adults (age: 18-59 years) participated in the questionnaire survey, and the PSQI was used to assess sleep quality. Two latent classes of sleep quality were found in men, and the cut-off value of PSQI for predicting the poor sleep quality group was 6. Four latent classes were found in women, which were named \'good sleep\', \'daytime dysfunction\', \'inadequate sleep\', and \'poor sleep\', respectively. In women, the optimal cut-off values of the PSQI for predicting the poor and good sleep quality groups were 9 and 6, respectively. Women who were not included in the \'poor sleep\' group but had a score not less than 2 in the \'sleep duration\' or \'daytime dysfunction\' dimensions of PSQI were classified into the \'inadequate sleep\' group or the \'daytime dysfunction\' group. The findings may benefit the identification of sleep problems and assist in more effective alleviation of these issues.

BACKGROUND: Though lipoprotein (a) (Lp (a)) has been considered as a risk factor for coronary artery disease, there is a lack of cutoff values of Lp (a) for Chinese Han ethnicity.
METHODS: We included 1 population for health check-ups. Lp (a) percentile distributions were analyzed and its cutoff for Chinese Han ethnicity was also proposed according to the its relative risk of myocardial infarction.
RESULTS: Lp (a) distributions differed between sexes, and were highly skewed towards low concentrations with a long tail towards the highest ones. The relative risks of elevated Lp (a) concentrations for myocardial infarction had an inflection in Chinese Han ethnic at the 8th decile, corresponding to 167 mg/l, where the risk was prone to be increased. In terms of Lp (a) median concentrations, per higher age quantile (5-y interval) was associated with a significant increase of 3.2 mg/l and females were on average 19.75 mg/l higher than males with a significant difference.
CONCLUSIONS: We proposed Lp (a) < 170 mg/l after rounding as cut-off values for Chinese Han ethnicity. Effects of age and sex on Lp (a) concentrations were also noted. Prospective validation of these cutoff values is critically important in Chinese Han ethnicity.

OBJECTIVE: This study was performed to better know diagnosis associated with serum IgG4 concentration, and to explore the possibility for development of a serum IgG4 for IgG4-related disease (IgG4-RD) in Chinese populations.
METHODS: We studied retrospectively 497 IgG4 serum subclass measurements from Peking Union Medical College Hospital during the four-year period, including 242 IgG4-RD, 130 other diseases and 125 healthy individuals.
RESULTS: Serum IgG4 concentrations were significantly higher in IgG4-RD than in other pathologies (1662.9 ± 3760.9 mg/L, p < 0.001) and healthy individuals (538.2 ± 458.6 mg/L, p < 0.001). There were no significant differences in serum IgG4 level between other pathologies group and healthy individuals (p = 0.075). Among the 242 IgG4-RD patients analyzed, serum IgG4 concentrations were normal in 46 patients (19.0%). We found 32 patients (24.6%) with elevated serum IgG4 levels among the 130 patients who suffered from other pathologies. There were seven (5.6%) with serum IgG4 over 1350 mg/L in healthy individuals. The ROC curve analysis revealed that the optimal sensitivity and specificity were 80.0% and 88.2%, respectively, at the concentration of 1575 mg/L for Chinese patients.
CONCLUSIONS: Our study demonstrated that serum IgG4 elevation was not specific of IgG4-RD. Further studies are needed to define the sensibility and specificity of IgG4 values for the diagnosis of IgG4-RD.