Objective:To investigate the clinicopathological and genetic features of confined placental mosaicism (CPM) and its effect on fetal intrauterine growth.Methods:Fourteen CPM cases of Haidian Maternal and Children Health Hospital were collected from May 2018 to March 2022. Clinicopathological examination on placental specimens and molecular genetic analysis were performed.Results:The age of the parturient women ranged from 27 to 34 years, with an average age of (30.0±3.54) years. The gestational weeks ranged from 35 +1 to 41 +2 weeks. There were 4 premature births and 10 term births, among which 6 were female and 8 were male fetuses. Nine cases (9/14) had adverse pregnancy outcomes, including 7 cases of fetal growth restriction. The weight of CPM placenta decreased, with 6 cases below the 10th percentile of weight standards and 5 cases between the 10th and 25th percentile. All 14 CPM placental specimens showed morphological changes of perfusion dysfunction to varying degrees, with mainly placental-maternal vascular malperfusion followed by placental-fetal vascular malperfusion. The mosaic chromosomes in different CPM cases varied, with 16-trisomy/monosomy mosaicism being the most common followed by 7-trisomy and 21-trisomy/monosomy mosaicism. The mosaic proportion was unequal in different parts of the same CPM placenta, with the mosaic proportion of umbilical cord, fetal membranes, fetal surface, maternal surface, and edge ranging from 1% to 70%. Conclusions:The mosaic chromosomes in different CPM cases vary, and the mosaic proportion is unequal in different parts of the same CPM placenta. The pathological morphology is mainly manifested as perfusion dysfunction, which can lead to adverse pregnancy outcomes such as fetal growth restriction and preterm birth.

Objective: Spinocerebellar ataxia type 2 (SCA2) is one of the most common autosomal dominant ataxias in the world. Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. Thus, the aim of this study is to evaluate the effect of CAG repeats on the AAO of patients with SCA2 in China.Methods:A total of 119 patients with SCA2 were enrolled and were divided into 2 groups according to their major phenotype:17 patients from 9 families with Parkinson ' s syndrome were grouped as the Parkinson ' s disease-SCA2 (PD-SAC2); 91 patients from 66 SCA2 families and 11 sporadic SCA2 patients were grouped as the ataxia-SCA2 (A-SCA2). Blood samples were obtained from the subjects, and the CAG repeat length in ATXN2 and other (CAG)n-containing genes was screened using fluorescent PCR. The Spearman ' s rank correlation between the CAG repeat length in (CAG)n-containing genes and AAO was analyzed. Regression analysis was performed to investigate whether the CAG repeat length could explain the variant of AAO. A t-test was used to compare the difference of CAG repeat length in (CAG)n-containing genes between the PD-SAC2 and A-SCA2 groups. Results:The CAG repeat length in the longer allele of ATXN2 was negatively correlated with AAO of SCA2 (R=?0.251, P<0.05), and the CAG repeat length could explain 41.7％of the variation of AAO. AAO negatively correlated with the CAG repeat length in the shorter allele of ATXN7 (R=?0.251, P=0.006) or in the longer allele of TBP gene (R=?0.197, P=0.034). A tendency of delay in the AAO was also observed in patients with SCA2 carrying the CAG repeat within the ATXN3, CACNA1A, ATXN7, TBP, and RAI1. In addition, we found that the CAG repeat length in ATXN7 and ATXN2 between the A-SCA2 and the PD-SCA2 groups was significantly different (both P<0.05).Conclusion:The CAG repeat in ATXN2 is a major genetic factor for the AAO of patients with SCA2 in China. The CAG repeat length in ATXN3, CACNA1A, ATXN7, TBP, and RAI1 genes might be a potential factor associated with the AAO of SCA2. The CAG repeat in ATXN7 might be a potential factor affecting the Parkinson??s syndrome in SCA2.

Objective To investigate the pollution status of phthalate esters in household indoor air particles in Wuhan. Methods The indoor air particulate matter PM10 and PM_2.5 from residential houses in Wuhan were collected. The concentrations of 15 phthalate esters were determined by gas chromatography-mass spectrometry (GC-MS). Results A total of 5 phthalates were detected, including DMP, DEP, DiBP, DBP, and DEHP. The detection rate of DiBP, DBP and DEHP was 100%, while DMP and DEP were detected in only some of the samples. Conclusion Phthalate esters pollution was widespread in indoor air particles of residential houses in Wuhan. DiBP, DBP and DEHP were the main pollutants. Decoration materials and plastic household articles were important sources of the phthalate esters pollution, and their impact as a health hazard needs attention.

Objective To investigate the serum vitamin and trace element levels in children with short stature and their correlation with bone age. Methods Levels of serum VA and VD, and trace elements Ca, Fe, Zn, Mg, Cu, Pb and Cd were measured in 322 children who were referred for height consultation. Bone ages were evaluated and the correlation between bone age and serum vitamin and trace element levels was analyzed. Results The VA and VD deficiency rates of these 322 children were 22.05% and 34.16%, respectively. The deficiency rates of trace elements Ca, Fe and Zn were14.29%, 21.43% and 6.83%, respectively. The Pb excess rate was as high as 42.55%. The rates of bone age (BA) retardation in Group Ⅰ (short) and Group Ⅱ (slightly short) were 49.38% and 37.57%, respectively, which was significantly higher than that of Group Ⅲ (normal). The Ca level of BA retardation children was lower than that of the normal BA children in Group I. The VD level of BA retardation children was lower than that of the normal BA children in Group Ⅱ. BA was negatively correlated with VD, Ca, and Cu levels in children (r=-0.241; r=-0.136; r=-0.162), and positively correlated with Fe (r=0.286) . Conclusion There were significant abnormalities of vitamins and trace elements in short children. Children's bone age had a certain correlation with serum vitamin D, calcium, copper, and iron levels. Serum vitamin and trace element levels in children should be monitored to guide a reasonable diet to better promote child growth and development.

Objective To formulate the evaluation criteria for micro-appraisal of comprehensive talents and macro-evaluation of projects.Methods A total of 425 articles were included in the meta-analysis of literature review;Delphi's panel that involved 20 experts,2 rounds of questionnaire surveys were conducted to construct indicators for comprehensive evaluation of talent construction projects;AHP was used to calculate the index weight coefficients for each category of indicators.Results The talent construction project evaluation system includes two sub-systems:micro-evaluation of talents and macro-evaluation of projects.Among them,the talent micro-evaluation system,which includes 12 evaluation indicators,carries out assessments in terms of basic qualities,academic accomplishments,and research achievements.the macro-evaluation system of the project,include a total of 15 evaluation indicators,is mainly assessed from the macro level of project operations-project structure,project process,project results.Conclusions From the perspective of the combination of micro (human resources) and macro (projects),to build a universal index for comprehensive evaluation of talent construction projects,both for the evaluation of the project,but also to conduct a comprehensive evaluation of the training object.

OBJECTIVETo determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China.

METHODSFor a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with autosomal dominant HSP and 58 sporadic cases),TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis.

RESULTSNo TGGAA pentanucleotide insertion expansion in BEAN/TK2 gene was identified in the above cohort.

CONCLUSIONSCA31 is an extremely rare subtype of SCA and should not be included in routine genetic screening in mainland China.

BACKGROUND:Theex-vivo expanded autologous adipose-derived stem cels have the capability of multipotential differentiation and have a broad application prospect in the field of tissue engineering and regenerative medicine. OBJECTIVE:To observe the nasal mucosal structural repair and functional reconstruction usingex-vivo expanded autologous adipose-derived stem cels. METHODS:Ten patients with mucosal damage due to the physical or chemical factors were enroled, including six cases of mucosal scar and four cases of mucosal ulceration. Autologous adipose tissue was extracted forin vitro isolation, culture and expansion of adipose-derived stem cels. Before transplantation, quality safety testing was done. Al the patients were injected adipose-derived stem cels (1×107/cm2 0.1 cm mucosal tissue sample at 30 days before and after transplantation for hematoxylin-eosin staining, Masson ) at an interval of 15 days, totaly for three times. Nasal volume, minimum cross-sectional area, and mucociliary clearance function were determined at 30, 90, 150 days after the final injection. Three of 10 patients were selected to take a 0.1 cm× trichrome staining, and AB-PAS staining. RESULTS AND CONCLUSION:Clinical symptoms were aleviated in al patients undergoing transplantation of adipose-derived stem cels. Compared with the baseline data, the nasal volume and minimum cross-sectional area were both decreased at 30, 90, 150 days after transplantation (P < 0.05), and the mucociliary clearance function was improved but not significantly (P > 0.05). Compared with the baseline data, the inflammation of the nasal mucosa was significantly reduced, colagen fibers arranged neatly, the deposition was decreased, and mucin secreted from goblet cels was increased in the selected three patients at 30 days after cel transplantation. These findings indicate thatex-vivo expanded autologous adipose-derived stem cels can be used to reconstruct the nasal mucosal structure and its function.

Objective To determine the neuronal damage or loss and gliosis at the cellular level in spinocerebellar ataxia type 3/Machado-Joseph disease(SCA3/MJD), and evaluate the potential use of neuron-specific enolase (NSE) and protein S 100 B(S100B) serum concentrations as biochemical markers. Methods Serum concentrations of NSE and S100B were measured in 102 SCA3/MJD patients and 100 healthy subjects matched by sex and age. The correlations between both markers and age, age of onset, disease duration, CAG repeat size, scores of international cooperative ataxia rating scale(ICARS), and scale for the assessment and rating of ataxia(SARA) were analyzed. Results Compared with the healthy controls, patients with SCA3/MJD had higher NSE serum concentrations [(6.95±2.83)ng/mL vs (4.83±1.70) ng/mL, P<0.05] and higher S100B serum concentrations [(0.07±0.06) ng/mL vs (0.05±0.02) ng/mL, P<0.05]. In the SCA3/MJD patients group, NSE levels presented a positive correlation with age, disease duration, ICARS scores and SARA scores, whereas S100B levels did not correlate with age, age of onset, disease duration, ICARS scores and SARA scores. CAG repeat size did not correlate with the NSE levels and S100B levels in different age groups of SCA3/MJD patients. Conclusion Serum NSE might be a useful marker to monitor disease progression and represent the degree of severity of a certain disease. Elevated S100B serum concentrations in patients compared to healthy controls may suggest an application of this protein as a peripheral marker of brain impairment in SCA3/MJD.

Objective To investigate the related factors of international cooperative ataxia rating scale (ICARS) and scale for the assessment and rating of ataxia scores (SARA) in patients with spinocerebellar ataxia type 3/Machado-Joseph disease. Methods A total of 126 SCA3/MJD patients were assessed by ICARS and SARA. The relation between ICARS or SARA scores and age of onset, disease duration and CAG repeat size was analyzed. Results Either the total ICARS or the total SARA score was positively related with the disease duration(r=0.586,P＜0.05；r=0.643,P＜0.05). Simple linear regression equations were: Y1(total ICARS score)=13.072+2.388 X2(disease duration)(F=68.874,P＜0.05); Y2(total SARA score)=4.403+ 0.961 X2(disease duration)(F=87.254, P＜0.05). Either age adjusted the total ICARS score or age adjusted the total SARA score was positively related with CAG repeat size(r=0.328, P＜0.05; r=0.335, P＜0.05). Both the ICARS subscores and the SARA subscores were positively related with the disease duration(r=0.257-0.589, P＜0.05; r=0.432-0.623, P＜0.05). Both age adjusted ICARS subscores and age adjusted SARA subscores were positively related with CAG repeat size(r=0.263-0.403, P＜0.05; r=0.189-0.366, P＜0.05). Analysis of variance showed that the total ICARS score and the total SARA score increased with the disease stage. Conclusion ICARS and SARA are both reliable and effective scales in assessing the severity of ataxia in patients with SCA3/MJD, and researchers can choose the most suitable scale according to specific requirement.

Objective To evaluate the metabolite pattern and the severity in patients with spinocerebellar ataxia type 3/ Machado-Joseph disease (SCA3/MJD) by 1H magnetic resonance spectroscopy (1H-MRS) on different cerebellar regions, including cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum. Methods Thirty-six SCA3/MJD patients, and 27 sex, age-matched healthy controls were scanned with 1H-MRS for N-acetylaspartate (NAA), choline (Cho) and creatine (Cr). We made cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum as the region of interests (ROI), and finally got access to NAA/Cr, Cho/Cr, and NAA/Cho ratios. We also examined the CAG repeat numbers of MJD1 gene, scored the 36 patients by the scale for the assessment and rating of ataxia (SARA), analyzed the differences in ratios between SCA3/MJD patients and the control group, and explored whether relevance existed between these ratios and duration of the disease, age of onset, CAG repeat times, and SARA scores respectively. Results The ratio of NAA/Cr in SCA3/MJD patients showed a significant reduction in the cerebellar cortex, dentatum, cerebellar vermis and medipeduncle (P<0.01) compared with the controls. The ratio of NAA/Cho also showed significant reduction in the dentatum and cerebellar vermis (P<0.01). A number of correlations were found between the metabolite ratios of 1H-MRS and duration of the disease, age of onset, expanded CAG and SARA score in SCA3/MJD patients. Conclusion 1H-MRS, which shows the neural metabolic changes in the cerebella of SCA3/MJD patients, provides useful information about the severity of SCA3/MJD.