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Objective: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES). Case report: The case is a gestational age (GA) 18 fetus of two healthy parents with a normal child. We proceeded the genomic DNA from both fetus amniotic cells and parents to WES and identified a RIT1 mutation (c.268A>G) as the pathogenic cause of the hydrops fetalis by automatic prioritization algorithm after array-comparative genomic hybridization results showing negative. Conclusion: Mutations in RIT1 have been reported as the causes for different fetus structural abnormities in the recent years. This case contributes to the summary delineations of the prenatal NS phenotypes related to RIT1 mutation. In addition, the fast WES application, in this case, has demonstrated its advantage in prenatal disorder diagnosis when conventional karyotyping or chromosomal microarray testing result is negative.

Wheat straw (WS) has long been subjected to rough treatment by traditional incineration, which not only results in the waste of biomass resources but also poses a risk of atmospheric pollution and is not conducive to the sustainable utilization of natural resources. With great humification potential, WS can be utilized as a valuable composting material. The study optimized the C/N ratio by mixing WS and chicken manure (CM) as composting raw materials, and found that this method could significantly improve the compost quality. In comparison to the conventional poplar woodchip (PW) conditioning, the incorporation of WS resulted in an elevated composting temperature, an extended high-temperature period, a more expeditious lignocellulose degradation, a notable enhancement in the organic matter content, a suppression of hydrogen sulfide production under low C/N ratio, and a promotion of elemental sulfur conversion, collectively contributing to an enhanced overall quality and environmental friendliness of the compost. Correlation analysis of microbial communities and environmental factors demonstrated that the mixed compost facilitated the growth of actinomycetes and sulfur-transforming bacteria. Additionally, structural equation model indicated that parameters such as temperature and pH value played a key role in the composting process. [ABSTRACT FROM AUTHOR]

Background: Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) account for the vast majority of neurodegenerative dementias. AD and FTLD have different clinical phenotypes with a genetic overlap between them and other dementias. Objective: This study aimed to identify the genetic spectrum of sporadic AD and FTLD in the Chinese population. Methods: A total of 74 sporadic AD and 29 sporadic FTLD participants were recruited. All participants underwent whole-exome sequencing (WES) and testing for a hexanucleotide expansion in C9orf72 was additionally performed for participants with negative WES results. Results: Four known pathogenic or likely pathogenic variants, including PSEN1 (p.G206D), MAPT (p.R5H), LRRK2 (p.W1434*), and CFAP43 (p.C934*), were identified in AD participants, and 1 novel pathogenic variant of ANXA11 (p.D40G) and two known likely pathogenic variants of MAPT (p.D177V) and TARDBP (p.I383V) were identified in FTLD participants. Twenty-four variants of uncertain significance as well as rare variants in risk genes for dementia, such as ABCA7, SORL1, TRPM7, NOS3, MPO, and DCTN1, were also found. Interestingly, several variants in participants with semantic variant primary progressive aphasia were detected. However, no participants with C9orf72 gene variants were found in the FTLD cohort. Conclusions: There was a high frequency of genetic variants in Chinese participants with sporadic AD and FTLD and a complex genetic overlap between these two types of dementia and other neurodegenerative diseases. [ABSTRACT FROM AUTHOR]

This study aims to explore the mediating role of mental imagery in the relationship between alexithymia and parental psychological control among Chinese university students. Conducted between March and April 2023, this descriptive study involved 282 volunteer participants from a university in southern China. Data collection included the Toronto Alexithymia Scale (TAS), the Parental Psychological Control Scale (PPC), and the Vividness of Visual Mental Imagery questionnaire (VVIQ). The results revealed that: (1) based on established cut-off, 81 students were identified as highly alexithymic; (2) the alexithymia group scored higher on both the TAS and PPC and lower on the VVIQ compared to the non-alexithymia and possible-alexithymia groups; and (3) mediating analysis demonstrated a strong and positive correlation between parental psychological control and alexithymia for all participants, with visual mental imagery mediating this relationship. This study underscores the interconnectedness of parental psychological control, visual mental imagery, and alexithymia among college students. The theoretical and clinical implications of these findings are also discussed. [ABSTRACT FROM AUTHOR]

This paper examines how cognitive ability affects households' demand for financial advice and whether households with financial advisors reap better investment returns in China. Using data from the nationally representative China Household Finance Survey (CHFS) and China Family Panel Studies (CFPS), we find that math ability (i.e., one domain of cognitive ability) has a significant and negative effect on households' propensity to hire financial advisors, whereas the impact of verbal ability (i.e., another domain of cognitive ability) on seeking financial advice is insignificant. The analysis also suggests that the influence of cognitive limitation is larger for less educated and financially literate households. We conduct a regression discontinuity based on the Huai River policy, supporting the causal influence of cognitive ability on financial advice seeking. Furthermore, we find no evidence that financial advice improves investors' investment performance. [ABSTRACT FROM AUTHOR]

Objective: This mixed-method pilot study aims to investigate the feasibility and preliminary effects of sport stacking on cognitive function in individuals with mild Alzheimer's disease (AD) and those with mild cognitive impairment (MCI). Methods: Twenty-four community-dwelling subjects with confirmed mild AD or MCI were evenly randomly assigned to either the 12-week sport stacking intervention group (n = 12) or clinic routine management control group (n = 12). Outcome evaluation included the Auditory Verbal Learning Test (AVLT), Alzheimer's Disease Cooperative Study–Activities of Daily Living scale (ADCS-ADL), and plasma brain-derived neurotrophic factor (BDNF). A qualitative descriptive study was conducted to explore the overall perception and experience of the sport stacking from the subjects' perspective. Results: Twenty-two subjects completed the trial. At 12 weeks post-intervention, compared to the control group, the sport stacking group had significantly greater improvements in AVLT immediate recall (P <.001, Cohen d =.66) and an increase in plasma BDNF (P <.001, Cohen d =.64). Subgroup analysis indicated that subjects with MCI had significantly greater increases in AVLT immediate recall (P =.005, Cohen d =.72), ADCS-ADL (P =.130, Cohen d =.42) and plasma BDNF (P =.024, Cohen d =.83). Twelve subjects participating in the post-intervention interviews expressed the benefits (e.g., hand-eye coordination and faster reaction) from sport stacking and their enjoyment of it. Conclusion: To the best of our knowledge, this is the first study indicating that sport stacking is feasible among individuals with MCI and mild AD. The preliminary effect on episodic memory is encouraging, possibly via upregulation of BDNF. [ABSTRACT FROM AUTHOR]