[Laparoscopic management of persistent Müllerian duct syndrome: A case report and pedigree investigation].

OBJECTIVE: To investigate the clinical characteristics, diagnosis, treatment and etiology of persistent Müllerian duct syndrome (PMDS). METHODS: A 3-year-old boy was diagnosed with PMDS according to the clinical manifestations and the results of ultrasonography, laboratory examinations and earlier surgical examination. We performed genetic tests for the patient and his family members, removed the infantile uterus by laparoscopic wedge hysterectomy, biopsied and descended the bilateral testes, and ligated the bilateral internal rings, followed by a retrospective analysis and review of relevant literature. RESULTS: The operation was successful. Gonad biopsy revealed testis tissue, and PMDS was confirmed by intraoperative findings and related examinations. Good bilateral testicular blood supply was found during the 6-month follow-up after surgery. Medical exome sequencing showed the AMHR2 gene c.1499G > A (p.Cys500Tyr) mutant homozygote (A/A) in the patient and his sister and mutant heterozygote (G/A) in his parents. CONCLUSIONS: Laparoscopy is definitely effective for the treatment of PMDS. In surgery, the infantile uterus should be removed in case of good blood supply to the testis, and so were the bilateral testes if they cannot be descended. The homozygous mutation in the AMHR2 gene c. 1499G > A (p. Cys500Tyr) can lead to male PMDS. Pedigree investigation may provide some evidence for possible fertility in PMDS patients.

Laboratory Research and Evaluation on Design and Application Performance of High-Performance Cold-Mix Resin.

To improve the safety of orthotropic steel bridge decks and the construction efficiency of bridge deck pavement by enhancing the performance of pavement materials, a new-generation, high-performance cold-mix resin was prepared by carrying out the combination of micro-characteristic analysis and performance test. Meanwhile, the pavement performance and fatigue performance of high-performance cold-mix resin mixtures and hot-mix epoxy saphalt mixtures as a control group were studied experimentally. The results show that different kinds of epoxy resins show bisphenol structure in essence. The curing exothermic peak temperature of the cold-mix resin increases with the heating rate. Both the specific heat capacity (△CP) of cold-mix resin and cold-mix resin asphalts exhibit a sudden change between -20 °C and 40 °C. In resin asphalt mixtures, cold-mix resin forms the network structure skeleton whereas the asphalt distributed in the form of tiny particles. The dosage of respective component has a significant effect on the tensile strength and elongation at break of cold-mix resin. Compared with hot-mix epoxy asphalt mixtures, cold-mix resin mixtures exhibit comparable water stability and high and low-temperature performance, as well as greater fatigue life.

Congenital cytomegalovirus infection and the risk of hearing loss in childhood: A PRISMA-compliant meta-analysis.

BACKGROUND: Congenital cytomegalovirus (cCMV) infection is the most common cause of childhood hearing loss (HL), although the strength of this association remains limited and inconclusive. Thus, the purpose of this study was to summarize evidence regarding the strength of the relationship between cCMV and childhood HL and to determine whether this relationship differs according to patient characteristics. METHODS: The PubMed, EmBase, and Cochrane Library databases were searched for studies evaluating the relationship between cCMV and HL from inception to September 2019. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to calculate the investigated outcomes in a random-effects model. Sensitivity, subgroup, and publication bias analyses were also performed. RESULTS: A total of 15 studies involving 235,026 children met the inclusion criteria and were included in the final analysis. The summary results indicated that cCMV infection was associated with an increased risk of HL (odds ratio [OR]: 8.45; 95% confidence interval [CI]: 3.95-18.10; P < .001), irrespective of whether studies reported sensorineural HL (OR: 5.42; 95% CI: 1.98-14.88; P = .001), or did not evaluate HL types among their patients (OR: 11.04; 95% CI: 3.91-31.16; P < .001). However, in studies conducted in the United States (P < 0.001) and published in or after 2000 (P = 0.026), the study populations included <60% males (P < 0.001). Moreover, studies of high quality (P < .001) demonstrated a significantly greater risk of HL with cCMV infection than that in the corresponding subgroups. CONCLUSIONS: The study results suggest that cCMV infection increases the risk of HL. Further studies are required to investigate the association of cCMV infection with the risk of specific subtypes of HL.

Mechanical Properties and Uniaxial Compression Stress-Strain Relation of Recycled Coarse Aggregate Concrete after Carbonation.

The application of recycled coarse aggregate (RCA) made from waste concrete to replace natural coarse aggregate (NCA) in concrete structures can essentially reduce the excessive consumption of natural resources and environmental pollution. Similar to normal concrete structures, recycled concrete structures would also suffer from the damage of carbonation, which leads to the deterioration of durability and the reduction of service life. This paper presents the experimental results of the cubic compressive strength, the static elastic modulus and the stress-strain relation of recycled coarse aggregate concrete (RAC) after carbonation. The results show that the cubic compressive strength and the static elastic modulus of carbonated RAC gradually increased with the carbonation depth. The uncarbonated and fully carbonated RAC show smaller static elastic modulus than natural aggregate concrete (NAC). As the carbonation depth increased, the peak stress increased, while the peak strain decreased and the descending part of the curves gradually became steeper. As the content of RCA became larger, the peak stress decreased, while the peak strain increased and the descending part of the curves gradually became steeper. An equation for stress-strain curves of RAC after carbonation was proposed, and it was in good agreement with the test results.

The role of peroxisome proliferator-activated receptor gamma and adiponectin in children with Kawasaki disease.

OBJECTIVE: To investigate the relationship between peroxisome proliferator-activated receptor gamma (PPARγ) mRNA, serum adiponectin (ADP) and lipids in paediatric patients with Kawasaki disease (KD). METHODS: This prospective study enrolled paediatric patients with KD and grouped them according to the presence or absence of coronary artery lesions (CAL). A group of healthy age-matched children were recruited as the control group. The levels of PPARγ mRNA, serum ADP and lipids were compared between the groups. Receiver operating characteristic (ROC) curve analysis was undertaken to determine if the PPARγ mRNA level could be used as a predictive biomarker of CAL prognosis. RESULTS: The study enrolled 42 patients with KD (18 with CAL [CAL group] and 24 without CAL [NCAL group]) and 20 age-matched controls. PPARγ mRNA levels in patients with KD were significantly higher than those in the controls; but significantly lower in the CAL group than the NCAL group. ROC curve analysis demonstrated that the PPARγ mRNA level provided good predictive accuracy for the prognosis of CAL. There was no association between PPARγ, ADP and lipid levels. CONCLUSION: There was dyslipidaemia in children with KD, but there was no correlation with PPARγ and ADP. PPARγ may be a predictor of CAL in patients with KD with good predictive accuracy.

[Clinical screening and genetic diagnosis for Prader-Willi syndrome].

OBJECTIVE: To study the clinical screening and genetic diagnosis of children suspected of Prader-Willi syndrome (PWS), as well as the differences in the scores of clinical diagnostic criteria among the children with a confirmed diagnosis of PWS. METHODS: A total of 94 children suspected of PWS who were admitted from July 2016 to December 2018 were enrolled as subjects. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to confirm the diagnosis. For the children with a confirmed diagnosis of PWS, the scores of clinical diagnostic criteria were determined, and the perinatal characteristics were analyzed. RESULTS: A total of 11 children with PWS were confirmed by MS-MLPA, with a detection rate of 12%, among whom there were 7 boys and 4 girls, with a median age of 3 years and 4 months (range 25 days to 6 years and 8 months) at the time of confirmed diagnosis. Among the 11 children with PWS, only 5 children (45%) met the criteria for clinical diagnosis. The main perinatal characteristics of the children with PWS were decreased fetal movement (9 cases, 82%), cesarean section birth (11 cases, 100%), hypotonia (11 cases, 100%), feeding difficulties (11 cases, 100%), and weak crying (11 cases, 100%). CONCLUSIONS: Gene testing should be performed as early as possible for children suspected of PWS by clinical screening. PWS may be missed if only based on the scores of clinical diagnostic criteria.

[Association of +45 and +276 polymorphisms in the adiponectin gene with the development of Kawasaki disease].

OBJECTIVE: To investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms and its association with the development of Kawasaki disease and coronary artery lesion (CAL). METHODS: A total of 81 children with Kawasaki disease (among whom 11 had CAL) and 100 normal children who underwent physical examination (control group) were enrolled in a case-control study. Sequencing was performed to investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms. RESULTS: There were no significant differences between the Kawasaki disease and control groups in the frequencies of TT, TG, and GG genotypes and T/G alleles of +45T/G polymorphism in the adiponectin gene (P>0.05). In the Kawasaki disease group, there were also no significant differences in the genotype and allele frequencies of the +45T/G polymorphism between the children with CAL and those without (P>0.05). There were significant differences between the Kawasaki disease and control groups in the frequencies of GG, GT, and TT genotypes and G/T alleles of +276G/T polymorphism in the adiponectin gene (P<0.05). GG genotype was a risk factor for the development of Kawasaki disease (OR=2.313, P=0.006). In the Kawasaki disease group, there was no significant difference in the genotype distribution of the +276G/T polymorphism between the children with CAL and those without (P>0.05). CONCLUSIONS: The adiponectin +276G/T polymorphism may be associated with the development of Kawasaki disease, but not associated with CAL. The adiponectin +45T/G polymorphism may not be associated with Kawasaki disease or CAL.

Fast Eruption Desorption Ionization for Mass Spectrometric Analysis.

Fast eruption desorption ionization (FEDI) technique was developed for simple, rapid, and sensitive analysis of various compounds. The FEDI allows three analytical modes each with the unique characteristic. The results demonstrated that non-assisted eruption was suitable for stable and volatile compounds, energetic material (EM)-assisted for nonvolatile molecules especially metal compounds, and solvent-assisted eruption for fragile molecules. High-quality mass spectra with intact ions of analytes were obtained in positive and negative ion modes. Graphical Abstract ᅟ.

[Serum adiponectin levels in children with Kawasaki disease].

OBJECTIVE: To explore the change in serum adiponectin levels and its significance in children with Kawasaki disease (KD). METHODS: Forty-five KD patients were enrolled in this study, including 18 with coronary artery lesions (CAL group) and 27 without coronary artery lesions (NCAL group). Twenty healthy children were recruited to the control group. Enzyme-linked immunosorbent assay was used to measure serum adiponectin levels, and an automatic biochemical analyzer was used to measure the levels of triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C). RESULTS: The serum adiponectin levels in the CAL and NCAL groups were significantly lower than in the control group during the acute phase, subacute phase, and recovery phase (P<0.01), with lower levels observed during the acute phase and subacute phase (P<0.01). Compared with the NCAL group, the CAL group had significantly higher serum levels of adiponectin during the acute phase and recovery phase (P<0.05). The levels of TC, HDL, and LDL in the NCAL and CAL groups were significantly lower than in the control group (P<0.05). The levels of serum adiponectin in KD patients were positively correlated with the levels of TC, TG, and C-reactive protein and the occurrence of CAL (r=0.31, 0.30, 0.34, and 0.35, respectively; P<0.05). CONCLUSIONS: Children with KD have metabolic disorders of blood lipids and reduced serum adiponectin levels. Reduced serum adiponectin levels may be the result of systemic inflammation, while increased adiponectin levels may be closely associated with the occurrence of CAL.

Skin texture parameters of the dorsal hand in evaluating skin aging in China.

BACKGROUND/PURPOSE: There are various non-invasive methods in skin morphology for assessing skin aging. The use of digital photography will make it easier and more convenient. In this study, we explored some skin texture parameters for evaluating skin aging using digital image processing. METHODS: Two hundred and twenty-eight subjects who lived in Sanya, China, were involved. Individual sun exposure history and other factors influencing skin aging were collected by a questionnaire. Meanwhile, we took photos of their dorsal hands. Skin images were graded according to the Beagley-Gibson system. These skin images were also processed using image analysis software. Five skin texture parameters, Angle Num., Angle Max., Angle Diff., Distance and Grids, were produced in reference to the Beagley-Gibson system. RESULTS: All texture parameters were significantly associated with the Beagley-Gibson score. Among the parameters, the distance between primary lines (Distance) and the value of angle formed by intersection textures (Angle Max., Angle Diff.) were positively associated with the Beagley-Gibson score. However, there was a negative correlation between the number of grids (Grids), the number of angle (Angle Num.) and the Beagley-Gibson score. These texture parameters were also correlated with factors influencing skin aging such as sun exposure, age, smoking, drinking and body mass index. In multivariate analysis, Grids and Distance were mainly affected by age. But Angle Max. and Angle Diff. were mainly affected by sun exposure. CONCLUSION: It seemed that the skin surface morphologic parameters presented in our study reflect skin aging changes to some extent and could be used to describe skin aging using digital image processing.

Diurnal variations in solar ultraviolet radiation at typical anatomical sites.

OBJECTIVE: Solar ultraviolet (UV) radiation is an important environmental factor that affects human health. The understanding of diurnal variations of UV radiation at anatomical sites may be helpful in developing ways to protect humans from the harmful effects of UV radiation. METHODS: In order to characterize the diurnal variations, the UV exposure values were measured at 30 min intervals by using Solar-UV Sensors and a rotating manikin in Shenyang city of China (41 degrees 51'N, 123 degrees 27'E). Measurement data for four representative days (in each of the four seasons respectively) were analyzed. RESULTS: The diurnal variations in solar UV radiation at the shoulder, the forehead and the chest were similar to those associated with a horizontal control measurement. However, the diurnal variations at the eye and the cheek exhibited bimodal distributions with two peaks in spring, summer and autumn, and a unimodal distribution in winter. The UV exposure peaks at the eye and the cheek were measured at solar elevation angles (SEA) of about 30 degrees and 40 degrees , respectively. CONCLUSION: The protection of some anatomical sites such as the eye from high UV exposure should not be focused solely on the periods before and after noon, especially in the places and seasons with high SEA.

Effects of UVA on TNF-alpha, IL-1beta, and IL-10 expression levels in human keratinocytes and intervention studies with an antioxidant and a JNK inhibitor.

OBJECTIVE: To understand the expressions and transduction pathways of cytokines in ultraviolet (UV)A-irradiated keratinocytes. METHODS: We cultured human keratinocytes of the HaCaT cell line and investigated both mRNA and protein expressions of cytokines in cells that were not irradiated or were exposed to 2.4 J/cm(2) UVA, with or without an antioxidant (beta-carotene) or a c-Jun N-terminal kinase (JNK) inhibitor (SP600125). RESULTS: We demonstrated that the expression levels of tumor necrosis factor (TNF)-alpha and interleukin (IL)-1beta were up-regulated in irradiated cells. IL-10 was not detected in non-irradiated cells, but was observed in irradiated cells. JNK was activated in irradiated cells and this could be antagonized by beta-carotene. The UVA-induced up-regulation of these cytokines was also antagonized by beta-carotene. SP600125 inhibited the UVA-induced increase in the expression of TNF-alpha mRNA and protein and in the expression of IL-1beta mRNA. CONCLUSIONS: The results suggest that oxidative stress may be an early intermediate effect in JNK-dependent UVA induction of cytokine expression in human keratinocytes in vitro.

Molecular cloning and characterization of cDNA encoding fibrinolytic enzyme-3 from earthworm Eisenia foetida.

The earthworm fibrinolytic enzyme-3 (EFE-3, GenBank accession No: AY438622), from the earthworm Eisenia foetida, is a component of earthworm fibrinolytic enzymes. In this study, cDNA encoding the EFE-3 was cloned by RT-PCR. The cDNA contained an open reading frame of 741 nucleotides, which encoded a deduced protein of 247 amino acid residues, including signal sequences. EFE-3 showed a high degree of homology to earthworm (Lumbricus rebullus) proteases F-III-1, F-III-2, and bovine trypsin. The recombinant EFE-3 was expressed in E. coli as inclusion bodies, and the gene encoding the native form of EFE-3 was expressed in COS-7 cells in the medium. Both the refolding product of inclusion bodies and the secreted protease could dissolve the artificial fibrin plate.