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Background: This study aimed to explore the effects of breast milk feeding volume on the early behavioral neurodevelopment of extremely preterm infants (gestational age < 28 weeks). Methods: The study was conducted from 1 January 2021 to 31 March 2023. A total of 187 preterm infants from a neonatal intensive care unit (NICU) in a Grade III Class A hospital in Zhejiang, China, were divided based on the proportion of breast milk in their total enteral nutrition: high proportion (≥ 80%, including exclusive breast milk feeding), medium proportion (20% ~ < 80%), and low proportion (< 20%). The study investigated motor performance and behavioral neurodevelopment at 37 weeks of corrected gestational age, as well as the total incidence of intracranial hemorrhage within the first four weeks postpartum. Results: The low breast milk feeding group had significantly lower scores in infant motor performance (31.34 ± 5.85) and elicited item scores (19.89 ± 5.55) compared to the medium and high groups (33.52 ± 4.33, 22.13 ± 4.22; and 35.86 ± 5.27, 23.91 ± 4.98), p < 0.05, respectively. Despite no significant difference in behavioral ability, the low proportion group exhibited lower passive muscle tension and primitive reflex scores than the medium and high proportion groups. The high proportion group showed higher active muscle tension scores. Ultrasound results revealed varying incidences of intracranial hemorrhage: 72.9% in low, 52.5% in medium, and 19.6% in the high proportion groups. Conclusions: Medium to high levels of breast milk feeding contribute positively to motor and behavioral neurological development in extremely preterm infants and decrease the likelihood of ventricular hemorrhage. However, it does not have a significant effect on the development of behavioral abilities. Due to the limited sample size, the next step will be to expand the sample size and further investigate the extent of the impact on various aspects of the nervous system. [ABSTRACT FROM AUTHOR]

Mammalian DNA derived from invertebrates (iDNA), including blowfly iDNA, is an alternative tool to conventional camera trapping in assessing mammalian diversity. The method has been used in tropical mammal surveillance but no attempt has been made to compare the efficacy of blowfly iDNA and camera trapping for monitoring mammal diversity in subtropical forests. We compared the blowfly iDNA monitoring with camera trapping to assess mammal diversity in the subtropical Jiulongfeng Nature Reserve (JLF), China, over a one-month period. The camera traps captured 2508 animal photos of 11 species belonging to four orders, eight genera, and eight families, whereas the blowfly iDNA method successfully detected ten species from six orders, eight genera, and eight families in JLF. Both methods were complementing each other instead of competing due to the low overlaps of mammal species detected. Of the total number of mammal species listed in JLF's threatened list, 40% and 10% were detected through camera traps and blowfly iDNA methods, respectively. The estimated species richness curves indicated that combining camera traps and blowfly traps would increase the detection of mammal species. The strategy would significantly contribute to mammalian diversity surveillance and conservation programs in the tropical and subtropical forests. [ABSTRACT FROM AUTHOR]

China is the largest producer and exporter of coke globally, which means that it is very important to understand the characteristics of air pollutants and carbon emissions from China's independent coking industry. This study was the first to establish a bottom-up inventory of the air pollutants and carbon emissions of China's independent coking industry during 2001–2018 based on continuous emission monitoring system online monitoring data and unit-based corporate information. Based on the developed emission inventory, four scenarios were established to analyze potential emissions reduction of air pollutants and carbon dioxide (CO2) in future. The emissions of particulate matter (PM10 and PM2.5), sulfur dioxide (SO2), black carbon (BC) and organic carbon (OC) decreased by 62.11%, 63.41%, 72.85%, 63.41% and 63.41%, respectively. CO2, carbon monoxide (CO), volatile organic compounds (VOCs) and nitrogen oxides (NOX) emissions increased by 355.51%, 355.51%, 355.51% and 99.74%, respectively. In 2018, PM10, PM2.5, SO2, NOx, BC, OC, CO, VOCs and CO2 emissions were, respectively. 45.20, 16.91, 63.84, 117.71, 5.07, 5.92, 554.91, 1026.58 Gg, and 176.88 Tg. Shanxi province made the greatest contributions to the total emissions of air pollutants and CO2 from this industry by 25.01%. The emission source that contributed most to PM2.5 (SO2 and NOX) emissions was coke pushing (quenching and the coke oven chimney respectively) in 2018. Under the ULE scenario (2018–2035), PM2.5 and SO2 emissions will reduce by more than 30%. Under the PCP scenario, PM2.5 and SO2 emissions will reduce by more than 55%. Under the CBP scenario, CO2 emissions will peak at 197.99 Tg in 2025 and decrease to 70% of the peak in 2035. The results showed the emission characteristics of air pollutants and CO2, future emission with several scenarios and cooperative reduction potential in China's independent coking industry, which provides scientific support for the development of pollution control strategies. [ABSTRACT FROM AUTHOR]

With serious environmental, cost, and social concerns arising from emerging countries' rapid growth in agricultural food cold chain (AFCC), AFCC firms urgently require a set of comprehensive sustainable strategic solutions. Therefore, this research identified and modeled the critical success factors (CSFs) that support the sustainable development of AFCCs. The study integrated institutional theory, stakeholder theory, and the triple bottom line model; it also surveyed cold chain experts from 16 different organizations in China and applied the adversarial interpretation structure model (AISM). This comprehensive analysis indicates that managing stakeholder pressure is the most motivating CSF of all strategies. This strategy eventually contributes to the sustainability of AFCC in China by driving other CSFs. Additionally, the study determined the degree of interdependence and dominance of different strategies. Thus, this study establishes a theoretical foundation for the sustainable improvement of AFCC organizations' business strategies and environmental policies. [ABSTRACT FROM AUTHOR]

Solvents, components of pesticide emulsifiable concentrates (ECs), emit quantities of volatile organic compounds (VOCs) into the atmosphere. In the air, their active involvement in oxidative chemical reactions with oxidants exposed to ultraviolet solar radiation can result in the formation of ozone. The quantitative assessment of VOC emissions from agricultural pesticide applications remains hampered by many factors, especially the volatility coefficient of solvents in pesticides. Therefore, this study identified solvents in 20 widely used pesticide products in China. The volatility coefficients of the solvents were investigated based on a spraying test to evaluate VOC emissions from agricultural pesticide applications and their ozone formation potential (OFP). The results suggest that VOC emissions from agricultural pesticide applications amount to 0.60 Mt in 2017, with insecticides, fungicides, and herbicides contributing 0.39 Mt, 0.12 Mt, and 0.09 Mt of VOCs, respectively. Since VOC emission and maximum incremental reactivity (MIR) led to an OFP value (2.1 g ozone/g product) for insecticides, a primary consideration should be to decrease use of solvents with high volatility coefficients and large MIR values in insecticide products. This work could provide valuable insights regarding response options to reduce VOC emissions and ozone formation. [ABSTRACT FROM AUTHOR]

To document the prevalence of skin problems associated with insulin pump use and identify contributing factors among children with type 1 diabetes mellitus in China. In total, 461 children were recruited from an online community (i.e., a Wechat group) of pediatric patients with T1DM. A self-developed questionnaire was filled in by parents, collecting the information on social demographics, disease, and insulin pump therapy related characteristics and skin problems. We applied the Mann–Whitney U test, Chi square test and logistic regression analysis to identify the factors associated with skin problems. Of the 461 responders, 308 (66.8 %) children were reported to have skin problems. More specifically, 38.8 % had pigmentation changes, 22.3 % allergy/dermatitis, 20.2 % scaring, 11.5 % pain, 10.8 % infection, 10.6 % subcutaneous lipohypertrophy, and 6.1 % lipoatrophy. Logistic regression analysis showed that independent associated factors of skin problems were the caregiver's educational level as college or above, patient having skin allergies, and using the Brand 2 insulin pump (p values < 0.05). The present study documents the prevalence of skin problems and identifies associated factors, such as caregiver's education, patients skin allergies, and using a specific brand of pump. Health education should address these factors in addition to the traditionally emphasized factors. [ABSTRACT FROM AUTHOR]

Despite previous studies suggesting that developmental care can provide benign stimulation to promote neural development of newborns, more evidence is needed regarding the other clinical benefits of developmental care. To evaluate the effect of implementing developmental care on the length of hospital stay, the improvement of care practice in neonatal intensive care units, as well as the short-term outcome of very low birth weight infants. Cluster-randomized controlled trial. From March 1, 2021 to March 1, 2022, 1400 very low birth weight infants were recruited from 14 tertiary neonatal intensive care units in China. We assigned 14 neonatal intensive care units to either developmental care or standard care. The length of hospital stay of the infants was the primary outcome analyzed at the individual level. Secondary outcomes were family centered care practice including parental involvement, the skin to skin care, exclusive breast milk, oral immune therapy and breastfeeding. The environmental management (noise and light) and the short-term outcomes were also evaluated. The length of hospital stay for the developmental care group was 65 % as long as that for the control group (HR: 0.65, 95 % CI, 0.451–0936, p = 0.021). After controlling the covariables, the adjusted HR = 0.755 (95 % CI, 0.515 to 1.107, p = 0.150). When compared to the control group, the developmental care group had greater access to SSC, with 22 infants (3.8 %) in the developmental care group compared to 13 infants (1.7 %) in the standard care group (p = 0.013). A greater proportion of infants in the developmental care group were fed at the breast, than those in the standard care group (136 [23.6 %] vs 9 [1.1 %]; p = 0.029). Compared to the control group, exclusively breast milk was significantly more favorable in the developmental care group (435 [75.6 %] vs 114 [15.0 %]; p = 0.001). The difference remained significant even after adjusting for covariates. However, the rate of oral immune therapy and parental involvement was similar in the two groups. The average noise and light levels in the developmental care group were significantly lower than those in the standard care group. After adjusting for confounders, the difference remained significant. There were no significant differences among groups in the mortality and major morbidity. Developmental care might have developed an accumulated effect over time on the length of hospital stay among very low birth weight infants. The implementation of developmental care can greatly improve family centered care practices and the neonatal intensive care unit environment. ClinicalTrials.gov NCT05166720. Registration date: 1 March, 2021. [ABSTRACT FROM AUTHOR]

Classical swine fever (CSF) is a highly contagious and important swine disease in China. Sporadic outbreaks with mild clinical signs are still being reported despite massive vaccination with the CSF C-strain vaccine. One possible reason for vaccine failure could be interference from maternally derived antibodies (MDAs) during vaccination in the field. The aim of this study was to evaluate the efficacy of different CSF vaccines in the presence of MDAs and to assess the different vaccination schemes in the field. The results demonstrated that vaccination with a single dose of C-strain-PK vaccine protected pigs against severe clinical signs and significantly reduced viremia. The impact of MDAs was negligible. The interference was also mild during a prime and boost vaccination scheme using the C-strain-ST vaccine. In contrast, a significant influence of MDAs on the efficacy of the subunit E2 vaccine in a one-dose vaccination scheme was observed, with pigs showing severe clinical signs, CSF-associated death, typical pathological lesions and a high level of viremia after challenge, despite robust E2 antibody induction. A field vaccination and challenge study further confirmed the superior effectiveness of a single dose of C-strain-PK vaccine in the presence of MDAs in comparison to a routine prime and boost vaccination scheme applied in the field, with pigs having fever, chronic signs, significant viremia and shedding after challenge. Delaying the vaccination time from the age of 28 days to 45 days, when MDA was low, was beneficial for improving the clinical protection and immunity induced by vaccines. Altogether, the results presented here emphasize that a high-quality vaccine and a scientific design of the vaccination scheme based on serological surveillance are essential pillars to control and eliminate CSF in China. • Different levels of interference of MDAs with CSF vaccine efficacy were observed. • The level of MDAs at vaccination is critical. • A high-quality vaccine and a scientific design of the vaccination scheme are essential. [ABSTRACT FROM AUTHOR]

• Genetic diversity between vaccine C-strain and prevalent subgenotype 2.1 field isolates of classical swine fever. • Virulence of subgenotype 2.1 field isolates ranges from mild to severe in weaned piglets. • Subgenotype 2.1 field isolates cause asymptomatic infection with virus shedding in adult pigs and overt infection in weaned piglets. • C-strain vaccine efficacy against Shimen strain confirmed. • Cross-protection of C-strain vaccine against field isolates demonstrated. Classical swine fever is an important swine disease in China, and sporadic outbreaks with mild clinical signs despite compulsory vaccination have raised questions about the virulence and pathogenicity of prevalent subgenotype 2.1 strains, and the ability of C-strain vaccines to cross-protect against them. To investigate this, three field isolates were evaluated in experimentally infected piglets and compared with the highly virulent reference Shimen strain. Clinical signs for the field strains ranged from mild to severe, and mortality ranged from 0 to 80 %. These data show differences in virulence among the subgenotype 2.1 field isolates and support the use of field strain GD191 as a genotype 2 challenge virus to assess efficacy of C-strain vaccines. In contrast to the historical genotype 1 strain, which caused acute infection with significant virus shedding in non-vaccinated animals, the subgenotype 2.1 GD191 strain produced different clinical manifestations in weaned piglets and adults. Adult pigs showed subclinical infection with viral shedding, whereas weaned piglets showed overt signs of infection. Efficacy of, and duration of immunity conferred by a C-strain vaccine were assessed using the reference Shimen strain and field isolate GD191 at 12 and 15 months after vaccination. A robust antibody response and sterilising protection were seen in all vaccinated animals and lasted up to 15 months post-vaccination. This study confirms that C-strain vaccines confer both clinical and virological protection against the historical genotype 1 Shimen strain and cross-protection against the prevalent genotype 2 field strain. [ABSTRACT FROM AUTHOR]

To further reform the medical and health care system, regulating multi-level treatment and rationalizing the use of medicine, and securing prescription circulation information, this study explores the evolutionary behavior of three players in terms of information security collaboration under the prescription circulation policy, analyzes the evolutionary paths, and examines the influence of key parameters on evolutionary outcomes by constructing a tripartite evolutionary game model consisting of hospitals, retail pharmacies, and healthcare service platforms. The study shows the following: (1) When the information security costs of prescription circulation increase, the willingness of hospitals to promote information collaboration weakens, the probability of control and regulation by healthcare platforms will be enhanced, and the incentive for retail pharmacies to undertake prescription circulation increases and then decreases. (2) The increased profitability of prescription drug sales can cause a decrease in the likelihood of both parties working together to promote information security. Increasing the collaborative space between hospitals and retail pharmacies is conducive to improving information security in the circulation of prescriptions. (3) A bi-directional constraint relationship exists between the circulation and control subjects. The shorter the technology spillover time from the healthcare service platform is, the higher the probability that hospitals and retail pharmacies will maintain the security of prescription information. (4) In the early stages of prescription circulation, the external regulatory action of the healthcare service platform is essential to improve the coordination of information security. Finally, combined with the tripartite evolutionary game model and simulation analysis results, it offers countermeasures and suggestions for the government to realize the prescription circulation information security collaboration.

Centenarians are an excellent model to study the relationship between the gut microbiome and longevity. To characterize the gut microbiome signatures of aging, we conducted a cross-sectional investigation of 1,575 individuals (20-117 years) from Guangxi province of China, including 297 centenarians (n = 45 with longitudinal sampling). Compared to their old adult counterparts, centenarians displayed youth-associated features in the gut microbiome characterized by an over-representation of a Bacteroides-dominated enterotype, increase in species evenness, enrichment of potentially beneficial Bacteroidetes and depletion of potential pathobionts. Health status stratification in older individuals did not alter the directional trends for these signature comparisons but revealed more apparent associations in less healthy individuals. Importantly, longitudinal analysis of centenarians across a 1.5-year period indicated that the youth-associated gut microbial signatures were enhanced with regard to increased evenness, reduction in interindividual variation and stability of Bacteroides, and that centenarians with low microbial evenness were prone to large microbiome instability during aging. These results together highlight a youth-related aging pattern of the gut microbiome for long-lived individuals., (© 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.)

A combination of 16S rDNA and GC-IMS was used to study the changes in the composition of microorganisms and volatile organic compounds (VOCs) during the storage of northeastern Chinese soybean paste. Firmicutes and Actinobacteriota dominated the microbial communities of the soybean paste at the phylum level, bacterial profiles of different samples were different at genus level. Fifty-one VOCs were identified from soybean paste, most of which existed in the early storage stage. Most esters and alcohols decreased with the extension of the storage time, while acids and pyrazines accumulated in the later period of storage. Esters, alcohols, acids and aldehyde compounds are the key substances in the volatile components of soybean paste, which give the soybean paste the sour, sweet, rose, mushroom and smoky flavor characteristics. The biomarker Bacillus-velezensis in soybean paste is directly related to ester features; Kroppenstedtia, Sporolactobacillus-nakayamae, and Corynebacterium-stationis are positively associated with the biosynthesis of aldehydes., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Aim: We explored the concentrations of urinary neutrophil gelatinase-associated lipocalin (NGAL) in healthy adults in the Jiangsu region in Eastern China and established a reference interval using latex-enhanced immunoturbidimetry to provide important guidelines for the interpretation and application of urinary NGAL in clinical practice. Methods: In total, 1970 eligible subjects from four regions were included in this study. The urinary NGAL levels were measured using an AU5800 automatic biochemical analyzer with its matched reagents. The urinary NGAL reference interval was established using the one-sided percentile method (95th percentile). Results: The urinary NGAL data were non-normally distributed. The urinary NGAL levels were not significantly different by sex or age. Therefore, the urinary NGAL reference interval in healthy adults in the Jiangsu region in Eastern China was <87.5 ng/ml (95th percentile of the upper limit). Conclusion: Urinary NGAL reference interval will play an important role in promoting the clinical value of urinary NGAL.

Aphasia shows high incidence in stroke patients and seriously impairs language comprehension, verbal communication, and social activities. Therefore, screening aphasic patients during the acute phase of stroke is crucial for language recovery and rehabilitation. The present study developed a Chinese version of the Language Screening Test (CLAST) and validated it in post-stroke patients.The CLAST was adapted from the Language Screening Test developed by Constance et al to incorporate Chinese cultural and linguistic specificities, and administered to 207 acute stroke patients and 89 stabilized aphasic or non-aphasic patients. Based on the Western Aphasia Battery (WAB) test, its reliability and validity were assessed. A cut-off for the CLAST in Chinese patients was determined by ROC curve analysis.The CLAST comprised 5 subtests and 15 items, including 2 subscores, namely expression (8 points, assessing naming, repetition, and automatic speech) and receptive (7 points maximum, evaluating picture recognition, and verbal instructions) indexes. Analysis of the alternate-form reliability of the questionnaire showed a retest correlation coefficient of 0.945 (P < .001). Intraclass correlation coefficients of three rating teams were >0.98 (P < .001). Internal consistency analysis showed a Cronbach's alpha coefficient of 0.909 (P < .001). The non-aphasia group showed higher scores than the aphasia group (14.2 ± 1.3 vs 10.6 ± 3.8) (P < .01). The questionnaire showed good construct validity by factor analysis. ROC curve analysis showed high sensitivity and specificity for the CLAST, with a cut-off of 13.5.The CLAST is suitable for Chinese post-stroke patients during the acute phase, with high reliability, validity, sensitivity, and specificity.

Objective: We examined the associations between maternal age at menarche and anthropometry and metabolism in adolescent offspring., Methods: Anthropometric, metabolic and blood pressure data were obtained from 304 girls and 190 boys aged 11-16 years attending school in Hangzhou (China). Age at menarche for both mothers and daughters was self-reported. Fasting blood samples were obtained and all participants underwent clinical examinations. Obesity was defined as BMI ≥95th percentile for age and sex., Results: Older maternal age at menarche was associated with older age of their daughters at menarche (r = 0.21; P < 0.001). Mother's age at menarche was not associated with anthropometry or metabolism of daughters. However, younger maternal age at menarche was associated with increased hip and waist circumferences, and BMI SDS of their sons. Boys whose mothers were ≤13 years at menarche had an adjusted relative risk of obesity 3-fold greater than sons of mothers with a later menarcheal onset (2.96; 95% CI 1.49, 5.87). Among daughters, every 1-year increase in their age at menarche was associated with a 0.34 SDS reduction in BMI. Increasing age at menarche was also associated with reduced waist and hip circumferences (-1.5 and -1.8 cm/y, respectively) and waist-to-height ratio (-0.008 per year). Girls in the youngest menarcheal age tertile (8.8-11.6 years) had diastolic blood pressure 2.2 mm Hg higher than other girls (P = 0.029)., Conclusions: Younger maternal age at menarche is associated with increased obesity risk in their sons, but not daughters. However, girls who experience menarche earlier have a less favourable anthropometric profile., (© 2019 John Wiley & Sons Ltd.)

Introduction: Vascular cognitive impairment without dementia is very common among the aged and tends to progress to dementia, but there have been no proper large-scale intervention trials dedicated to it. Vascular cognitive impairment without dementia caused by subcortical ischemic small vessel disease (hereinafter, subcortical Vascular cognitive impairment without dementia) represents a relatively homogeneous disease process and is a suitable target for therapeutic trials investigating Vascular cognitive impairment without dementia. Preclinical trials showed that dl-3-n-butylphthalide (NBP) is effective for cognitive impairment of vascular origin., Methods: In this randomized, double-blind, placebo-controlled trial, we enrolled patients aged 50-70 years who had a diagnosis of subcortical Vascular cognitive impairment without dementia at 15 academic medical centers in China. Inclusion criteria included a clinical dementia rating ≥0.5 on at least one domain and global score ≤0.5; a mini-mental state examination score ≥20 (primary school) or ≥24 (junior school or above); and brain magnetic resonance imaging consistent with subcortical ischemic small vessel disease. Patients were randomly assigned to NBP 200 mg three times daily or matched placebo (1:1) for 24 weeks according to a computer-generated randomization protocol. All patients and study personnel were masked to treatment assignment. Primary outcome measures were the changes in Alzheimer's disease assessment scale-cognitive subscale (ADAS-cog) and clinician's interview-based impression of change plus caregiver input (CIBIC-plus) after 24 weeks. All patients were monitored for adverse events (AEs). Outcome measures were analyzed for both the intention-to-treat (ITT) population and the per protocol population., Results: This study enrolled 281 patients. NBP showed greater effects than placebo on ADAS-cog (NBP change -2.46 vs. placebo -1.39; P = .03; ITT) and CIBIC-plus (80 [57.1%] vs. 59 [42.1%] patients improved; P = .01; ITT). NBP-related AE were uncommon and primarily consisted of mild gastrointestinal symptoms., Discussion: Over the 6-month treatment period, NBP was effective for improving cognitive and global functioning in patients with subcortical vascular cognitive impairment without dementia and exhibited good safety., (Copyright © 2016 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.)

Objective: To study the postpartum pelvic floor rehabilitation on the improvement of pelvic floor electrical physiological indexes and the prevention of female pelvic floor dysfunction in China., Methods: A multicenter prospective randomized controlled study was carried out. From October 2011, postpartum women in five provinces were randomly assigned into treatment group and control group. The women in treatment group received electrical stimulation and biofeedback treatment. The women in control group performed pelvic floor muscle exercise at home. When 6 months and 12 months after delivery, comparing two groups of patients with pelvic floor electrical physiological indexes and pelvic organ prolapse quantitation measurements (POP-Q), to evaluate the effect of postpartum pelvic floor rehabilitation on the prevention of pelvic floor dysfunction. Pelvic floor impact questionnaire short form (PFIQ-7) and pelvic organ prolapse/incontinence sexual questionnaire-12 (PISQ-12) were used to evaluate the influence on quality of life and sexual life., Results: Until June 2013, 324 women were participated, 124 in control group, 200 in treatment group. According to the baseline results, there was statistical significance in the results of pelvic floor electrical physiological indexes between the treatment and control groups in postpartum 6 months and 12 months; the proportion above level III of type I and type II muscle fibers strength in the treatment group, it was from 41.5% (83/200) and 40.5% (81/200) to 76.3% (145/190) and 79.5% (151/190) in postpartum 6 weeks and postpartum 6 months, increased to 80.6% (58/72) and 80.6% (58/72) in postpartum 12 months, improved significantly comparing with the control group (P < 0.01). According to Point Aa, treatment group and control group in the postpartum 6 weeks was (-2.2 ± 0.7) versus (-2.4 ± 0.6) cm, in postpartum 12 months (- 2.5 ± 1.1) versus (- 2.7 ± 0.6) cm, the improvement in treatment group was statistically significant (P < 0.01). And the other points were not significantly different (P > 0.05). There was no significant difference in the questionnaires in quality of life and quality of sexual life (P > 0.05)., Conclusion: Neuromuscular electrical stimulation and biofeedback therapy in the early postpartum period could obviously improve pelvic floor electrical physiological indexes, and is beneficial to prevent the pelvic floor dysfunction.

Mucolipidosis II alpha/beta (ML II alpha/beta; I-cell disease) is a rare, inherited, metabolic disease and has often been clinically misdiagnosed. ML II alpha/beta results from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT), which causes the lysosomal enzymes to accumulate in plasma. We identified two new Chinese patients with ML II alpha/beta by lysosomal enzyme assay. Using targeted next-generation sequencing genetic analysis, we located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X). These results were confirmed by Sanger sequencing. To our knowledge, the c.1071G>A mutation has not been previously reported. Our findings add to the number of reported cases of this rare illness and to the GNPTAB pathogenic mutation database. This work also demonstrates the application of lysosomal enzyme assay and targeted next-generation sequencing for the genetic screening analysis and diagnosis of ML II alpha/beta., (Copyright © 2013 Elsevier Inc. All rights reserved.)