Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.

[Effects of donor age and gender on early acute rejection episode in living related donor kidney transplantation].

OBJECTIVE: To identify the risk factors of acute rejection events after living related donor renal transplant. METHODS: Renal transplantation was performed on 117 patients, 85 males and 32 females, aged 9-57, with the kidneys from 117 donors, 63 males and 54 females, aged (47 +/- 6) (20-65). The cumulative incidence of acute rejection events was respectively evaluated by Kaplan-Meier product-limit method and log-rank test. Cox's proportional hazards model was used to determine the risk factors for acute rejection events. RESULTS: Follow-up was conducted for 16 (3-44) months. The acute rejection rates 2 and 6 weeks after transplantation of the group with the donor aged > or = 50 were 13.0% and 19.5% respectively, both significantly higher than those of the group with the donor aged < 50 (2.8% and 8.5% respectively, P = 0.010). The risk of being female for acute rejection was 2.731 times as that of being male (95% CI: 1.018-7.326, P = 0.046), and the risk of donor aged > or = 50 for acute rejection was 1.054 times as that of the donors aged < 50 (95% CI: 1.004-1.107, P = 0.020). CONCLUSION: The requirement for selecting elder living kidney donor should be stiff. Injury to the kidney should be avoided when the kidney of an elder donor is removed and transplanted. Early administration of sufficient immunosuppressive agents is necessary to the recipients of the kidney from an old or female living donor.

Neural network-based computer-aided diagnosis in distinguishing malignant from benign solitary pulmonary nodules by computed tomography.

BACKGROUND: Computer-aided diagnosis (CAD) of lung cancer is the subject of many current researches. Statistical methods and artificial neural networks have been applied to more quantitatively characterize solitary pulmonary nodules (SPNs). In this study, we developed a CAD scheme based on an artificial neural network to distinguish malignant from benign SPNs on thin-section computed tomography (CT) images, and investigated how the CAD scheme can help radiologists with different levels of experience make diagnostic decisions. METHODS: Two hundred thin-section CT images of SPNs with proven diagnoses (135 small peripheral lung cancers and 65 benign nodules) were analyzed. Three clinical features and nine CT signs of each case were studied by radiologists, and the indices of qualitative diagnosis were quantified. One hundred and forty nodules were selected randomly to form training samples, on which the neural network model was built. The remaining 60 nodules, forming test samples, were presented to 9 radiologists with 3 - 20 years of clinical experience, accompanied by standard reference images. The radiologists were asked to determine whether a nodule was malignant or benign first without and then with CAD output. Diagnostic performance was evaluated by receiver operating characteristic (ROC) analysis. RESULTS: CAD outputs on test samples had higher agreement with pathological diagnoses (Kappa = 0.841, P < 0.001). Compared with diagnostic results without CAD output, the average area under the ROC curve with CAD output was 0.96 (P < 0.001) for junior radiologists, 0.94 (P = 0.014) for secondary radiologists and 0.96 (P = 0.221) for senior radiologists, respectively. The differences in diagnostic performance with CAD output among the three levels of radiologists were not statistically significant (P = 0.584, 0.920 and 0.707, respectively). CONCLUSIONS: This CAD scheme based on an artificial neural network could improve diagnostic performance and assist radiologists in distinguishing malignant from benign SPNs on thin-section CT images.

[Survival analysis on liver failure patients treated with an artificial liver support system].

OBJECTIVE: To evaluate the efficacy of artificial liver support system (ALSS) in the treatment of liver failure patients. METHODS: This is a prospective, multi-center, controlled, large sample clinic trial. 518 patients with liver failure from 5 hospitals were studied and followed. All the patients received similar pharmacological manipulation according to one and the same protocol but were divided into an ALSS treatment group and a control group without ALSS treatment. The ALSS treatment procedures included plasma exchange, molecular adsorbent recirculating system (MARS), plasma exchange plus hemofiltration and other combined nonbioartificial methods. The analysis of survival time was computed using the Kaplain-Maier method, and comparison among groups was done using Log-Rank, Breslow and/or the Tarone-Ware test. RESULTS: Survival time of acute liver failure patients was prolonged from 4.0+/-0.2 days to 8.0+/-0.4 days (P=0.004). ALSS was shown to be two times more effective. ALSS increased the survival time of acute on chronic (A on C) liver failure patients from 27.0+/-1.6 days to 39.0+/-4.0 days (P less than 0.01). In addition, it increased the survival time of the patients in the middle and end stage of subacute liver failure and A on C liver failure, but had no significant effects on early stage patients. The survival time of middle stage patients was 38.0+/-17.5 days in the control group vs 66.0+/-18.6 days in the ALSS group (P less than 0.05). The survival time of end stage patients of the control group and the ALSS group was 18.0+/-4.0 days vs 26.0+/-2.5 days (P less than 0.01). CONCLUSIONS: Multi ALSS treatment is more effective than the standard medicinal liver care treatment. Multi-ALSS treatment could increase survival time of patients suffering from acute liver failure or A on C liver failure, especially in their middle and end stages. It is important and necessary to treat these patients with ALSS.

[Prevalence of low vision and blindness in defined populations in rural and urban areas in Beijing].

OBJECTIVE: To investigate the prevalence and causes of low vision and blindness in Beijing residents aged 40 and over. METHODS: 4,451 residents aged 40 and over in 3 rural communities and 5 urban communities in Beijing underwent eye examination, including examination of distant and near visual acuity (VA), best corrected distant and near VA, pinhole VA, and visual field, slit lamp biomicroscopy, and dilated ocular examination in the form of in-home survey by defined population-based sampling. The medical history was surveyed too. The data were analyzed based on the criteria of the World Health Organization. RESULTS: The general prevalence rates of low vision and blindness were 0.99% (95% CI: 0.70-1.28) and 0.39% (95% CI: 0.21-0.57) respectively. The prevalence rate of low vision in females was 1.45%, 2.23 times that of males (0.65%) (OR: 1.97, 95% CI: 1.00-3.95). The prevalence rate of low vision of rural residents was 1.76%, 2.89 times that of urban residents (0.61%) (OR: 2.93, 95% CI: 1.43-6.11). The prevalence rate of blindness in females was 0.64% and 0.37% in males. The prevalence rate of blindness of rural residents was 1.06%, 2.04 times that of the urban residents (0.52%) (OR: 3.77, 95% CI: 1.41-10.62). The 3 major causes of blindness were cataract (37.50%), glaucoma (29.20%), and high myopic macular degeneration (8.30%). The prevalence of blindness increased with age. CONCLUSION: The prevalence rates of low vision and blindness are higher in the rural areas. Cataract, glaucoma, and high myopic macular degeneration are the major causes of blindness. The prevalence of low vision and blindness are influenced by age, sex; area, health care level, educational level, and environmental factors.

[The prevalence and its screening methods of primary open angle glaucoma in defined population-based study of rural and urban in Beijing].

OBJECTIVE: The purpose of the study is to determine the prevalence of primary open-angle glaucoma (POAG) in persons aged 40 or above in Beijing, China. METHODS: From June 2001 to October 2001, the screening population was identified by a door-to-door census in five metropolitan resident areas in the north of Beijing and three villages in a county south to Beijing. The screening included visual acuity, frequency doubling perimetry (FDP, C-20 screening program), non-contact tonometry, slit lamp microscopy, anterior chamber depth (Van Herick method), and fundus photography. The suspect glaucoma and definite glaucoma patients were asked to have an examination of Octopus 1-2-3 perimetry (G1X TOP threshold program), repeat tonometry, gonioscopy and fundus stereo-photography at Beijing Tongren Hospital. RESULTS: There were 4451 subjects who were examined at the study sites. The response rates in rural and urban were 79.58% and 87.13%, respectively. In this 40 years-old or above population, the prevalences of POAG were 1.97% in rural men, 2.07% in urban men, 1.04% in rural women and 1.42% in urban women. In this study, 92.30% POAG patients in rural and 87.30% POAG patients in urban were new diagnosed cases. The prevalence of POAG increased with age and the change was exponential. In 50% POAG patients first IOP measurement was less than 21 mm Hg (1 mm Hg = 0.133 kPa). The prevalence of monocular eye blindness was 15.40% and 10.90% in rural and urban, respectively. CONCLUSIONS: Owing to use fundus photography and integrated evaluation of optic disc, it is possible to diagnose in earlier stage of POAG. This study identifies more patients with POAG than any previous population-based studies of China, and is similar to other studies of Asia such as in India and Singapore. The reason of lower POAG prevalence in rural women than in urban may be that the anterior chamber depth of rural women is shallower than that of urban women. It may cause difficult to differentiate the chronic primary angle closure glaucoma from POAG at screening sites, so the part POAG patients may be included in primary angle closure glaucoma patients.