Bereavement is a commonly experienced grief event; however, bereavement can also trigger a number of psychological consequences, such as prolonged grief disorder (PGD). At present, the differences in prolonged grief disorder symptoms (PGD symptoms) among various individuals and how those symptoms relate to cognitive variables are unclear. In the present study, 817 Chinese college students with bereavement experience were selected as participants. Based on the evaluation results of their irrational beliefs, bereavement-related irrational beliefs, basic world assumptions, and PGD symptoms, an individual-centered latent profile analysis was used to divide a group with PGD symptoms into several subgroups and comprehensively examine the relationships between these subgroups and cognitive variables. (1) The severity of PGD symptoms among Chinese college students can be categorized into three subgroups: mild, moderate, and severe. (2) Cognitive variables such as irrational beliefs and basic world assumptions were all found to correlate with the severity of PGD symptoms; bereavement-related irrational beliefs was the variable with the largest correlation. However, for the first time, this study found that different dimensions of basic world assumptions had different directions of correlation, based on the severity of the PGD symptoms. Justice, control, randomness, and self-control had significantly positive correlations. Conversely, benevolence of the world, benevolence of people, and worthiness of the self had significantly negative correlations. These results have important reference value for cognitive behavioral therapy (CBT) treatment and interventions for PGD issues in Chinese college students.

Shidu parents refer to the couple who have lost their only child and have not given birth or adopted another child in China. The number of Shidu parents is increasing annually. The aim of this research was to examine the mediating role of anxiety and the moderating role of social support between perceived stress and prolonged grief disorder (PGD) among Chinese Shidu parents.
A cross-sectional study was carried out with 505 participants who completed a questionnaire including the Prolonged Grief Questionnair-3 (PG-13), the Perceived Stress Scale-10 (PSS-10), the Self-Rating Anxiety Scale (SAS) and the Duke-UNC Functional Social Support Questionnaire (FSSQ). SPSS PROCESS macro was employed to examine the mediating role of anxiety and the moderating role of social support.
The mediation analysis showed anxiety partially mediated the link between perceived stress and PGD, and the proportion of mediation of anxiety was 39.22%. The moderated mediation analysis revealed the second stage of mediating effects of anxiety on the link between perceived stress and PGD was moderated by social support. Specifically, compared with Shidu parents with higher social support, the association between anxiety and PGD was closer for those with lower social support.
The moderated mediation model can broaden our understanding of how and when perceived stress, anxiety and social support work together to affect PGD. The interventions aimed at improving mental health of Chinese Shidu parents need to work on reducing stress and enhancing social support.

The pentose phosphate pathway (PPP) is an important mechanism by which tumour cells resist stressful environments and maintain malignant proliferation. However, the mechanism by which the PPP regulates these processes in colorectal cancer (CRC) remains elusive.
Closely related PPP genes were obtained from the TCGA and GEO databases. The effect of ATP13A2 on CRC cell proliferation was evaluated by performing in vitro assays. The connection between the PPP and ATP13A2 was explored by assessing proliferation and antioxidative stress. The molecular mechanism by which ATP13A2 regulates the PPP was investigated using chromatin immunoprecipitation and dual luciferase experiments. The clinical therapeutic potential of ATP13A2 was explored using patient-derived xenograft (PDX), patient-derived organoid (PDO) and AOM/DSS models.
We identified ATP13A2 as a novel PPP-related gene. ATP13A2 deficiency inhibited CRC growth and PPP activity, as manifested by a decrease in the levels of PPP products and an increase in reactive oxygen species levels, whereas ATP13A2 overexpression induced the opposite effect. Mechanistically, ATP13A2 regulated the PPP mainly by affecting phosphogluconate dehydrogenase (PGD) mRNA expression. Subsequent studies showed that ATP13A2 overexpression promoted TFEB nuclear localization by inhibiting the phosphorylation of TFEB, thereby enhancing the transcription of PGD and ultimately affecting the activity of the PPP. Finally, ATP13A2 knockdown inhibited CRC growth in PDO and PDX models. ATP13A2- /- mice had a lower CRC growth capacity than ATP13A2+/+ in the AOM/DSS model.Our findings revealed that ATP13A2 overexpression-driven dephosphorylation of TFEB promotes PPP activation by increasing PGD transcription, suggesting that ATP13A2 may serve as a potential target for CRC therapy.

Chinese shidu parents (bereaved parents over the age of 49 who have lost their only child) are potentially at a high risk of prolonged grief disorder (PGD), posttraumatic stress disorder (PTSD) and insomnia.
The current study aimed to estimate three network models in 310 shidu parents who met the ICD-11 criteria for PGD: (1) a PGD network to identify central symptoms; (2) a comorbidity network to explore bridge symptoms between PGD and PTSD; (3) a comorbidity network to examine the associations between PGD and insomnia symptoms.
The R-packages bootnet, qgraph and networktools were used to investigate the structure of network models and centrality indices of symptoms. In addition, robustness and significance analyses for the edge weights and the order of centrality were performed.
Emotional pain and numbness emerged as the most central symptoms in the PGD network. In the PGD-PTSD comorbidity network, the highest bridge strength symptoms were inability to trust others (PGD) and feeling upset (PTSD). Inability to trust others (PGD), avoidance (PGD), and impairment of life quality (insomnia) were possible bridge symptoms connecting PGD and insomnia.
Reducing emotional pain and numbness may be a viable target in PGD interventions for shidu parents. Additionally, findings suggest that future studies could examine the role of inability to trust others and avoidance in PGD comorbidities.
• Emotional pain and numbness were the most influential symptoms in shidu parents with PGD. The role of PGD symptoms of inability to trust others and avoidance in the comorbidities of PGD with PTSD and insomnia might be worthy of further study.
Antecedentes: Los padres chinos shidu (padres en duelo mayores de 49 años que han perdido a su único hijo) tienen un alto riesgo potencial de presentar trastorno de duelo prolongado (TDP), trastorno de estrés postraumático (TEPT) e insomnio. Objetivo: El presente estudio tuvo como objetivo estimar tres modelos de redes en 310 padres shidu que cumplieron con los criterios CIE-11 para TDP: (1) una red TDP para identificar síntomas centrales; (2) una red de comorbilidad para explorar los síntomas puente entre TDP y TEPT; (3) una red de comorbilidad para examinar las asociaciones entre el TDP y síntomas del insomnio. Métodos: Se utilizaron los paquetes R bootnet, qgraph y networktools para investigar la estructura de los modelos de redes y los índices de centralidad de los síntomas. Además, se realizaron análisis de robustez y significancia para los pesos de borde y el orden de centralidad. Resultados: El dolor y el embotamiento emocional surgieron como los síntomas más centrales en la red TDP. En la red de comorbilidad TDP-TEPT, los síntomas fuerza de puente más altos fueron la incapacidad para confiar en los demás (TDP) y sentirse molesto (TEPT). La incapacidad para confiar en los demás (TDP), la evitación (TDP) y el deterioro de la calidad de vida (insomnio) fueron posibles síntomas puente que conectan el TDP y el insomnio. Conclusiones: Reducir el dolor y el embotamiento emocional puede ser un objetivo viable en las intervenciones de TDP para padres shidu. Además, los hallazgos sugieren que los estudios futuros podrían examinar el papel de la incapacidad para confiar en los demás y la evitación en las comorbilidades del TDP.
背景: 失独父母(49岁以上失去独生子女的父母)患有延长哀伤障碍(PGD)、创伤后应激障碍(PTSD)和失眠的风险较高。 目的: 在310名符合PGD诊断标准的失独父母中探讨三个网络模型：(1)确定PGD网络模型的中心症状；(2)探索PGD与PTSD的共病网络模型的桥症状；(3)探索PGD与失眠共病网络模型的桥症状。 方: 法 采用R程序包bootnet、qgraph和networktools估计网络模型的结构和症状的中心性。此外，还对边缘权重和中心性顺序进行了稳健性和显着性分析。 结果: 情感痛苦和麻木是PGD网络中最中心的症状。在PGD-PTSD共病网络中，中心性程度最高的桥症状是难以信任他人(PGD))和情感痛苦(PTSD)。难以信任他人(PGD)、回避(PGD)和生活质量受损(失眠)可能是连接PGD和失眠的桥症状。 结论: 减轻情感痛苦和麻木可能是对失独父母的哀伤干预的一个可行目标。此外，本研究结果提示，未来的研究可以探讨难以信任他人和回避在PGD共病中的作用。.

The Typical Beliefs Questionnaire (TBQ) assesses common grief-related cognitions, which demonstrated satisfactory psychometric properties in a treatment-seeking sample with prolonged grief disorder (PGD). Chinese shidu parents (bereaved parents over the age of 49 who have lost their only child) are at a high risk of PGD. The current study aimed to examine psychometric properties of the Chinese version of the TBQ (TBQ-C) in a community sample of shidu parents with and without PGD, to compare this to the original validation clinical sample in the United States bereaved of any close relationship and to consider its use as a clinical tool. We examined the rate of positive endorsement, factor structure, internal consistency and validity of the TBQ-C in 310 community-based shidu parents (including 102 who met the criteria for PGD). Results showed that the rate of positive endorsement for each item ranged from 7.2% to 48.6% among non-PGD participants and from 20.6% to 92.2% among PGD participants. Confirmatory factor analysis indicated that the original five-factor structure fit both the non-PGD and PGD shidu parents. The TBQ-C showed acceptable internal consistency and satisfactory convergent and concurrent validity in both groups. It had good discriminant validity and can be helpful in distinguishing shidu parents with and without PGD. The TBQ-C can be used to investigate common grief-related beliefs that may be problematic for both shidu parents with and without PGD.

Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with human leukocyte antigen (HLA) typing (PGD-HLA), is a useful technique to have healthy offspring that are compatible with a sibling for hematopoietic stem cells transplantation (HSCT) to treat their genetic diseases. Here, we report a new strategy using single nucleotide polymorphism (SNP) linkage analysis for monogenic disease PGD combined with HLA typing, to simultaneously obtain the information of chromosomal aneuploidy, target mutations and HLA typing through a single low-depth next generation sequencing (NGS) procedure. In this study, five couples with probands underwent SNP linkage analysis for PGD-HLA typing were recruited. Within these five couples, two couples fortunately harvested four unaffected and HLA matched embryos with their siblings. After embryo transfer, two healthy neonates were born successfully. Subsequently, cord blood hematopoietic stem cells obtained from these two neonates were collected and frozen for treating their sick siblings. This novel strategy could provide abundant and specific SNPs for each family, therefore linkage information adjacent and even within HLA clusters were apparent. This study offers a highly flexible and precise method which could eliminate misdiagnosis caused by chromosomal recombination of the HLA gene, thus potentially benefit the success rate of HSCT.

OBJECTIVE: Preimplantation genetic diagnosis (PGD) analysis can be challenging for couples who carry more than one genetic condition. In this study, we describe a new PGD strategy to select which embryo(s) to transfer for two clinically challenging cases. Both cases lack essential family members for linkage analysis including de novo mutation combined with reciprocal translocation.
METHODS: Diverging from conventional method, we performed direct point mutation detection, quantitative analysis of gene copy number, combined with linkage analysis assisted by SNP information from single sperm (or polar bodies), thus establishing an all-in-one protocol for single embryonic cell preimplantation diagnosis for two co-existing genetic conditions (monogenic disease and chromosomal abnormality) on the NGS-based platform.
RESULTS: Using this newly developed method, 15 embryos from two cases were screened, and two embryos were determined as free of the monogenic disease and specific chromosomal abnormalities created by the prospective father\'s reciprocal translocations.
CONCLUSIONS: This novel PGD strategy could effectively select unaffected embryo(s) for couples affected with or carrying a monogenetic disease and a reciprocal chromosome translocation concurrently.

Morphological traits are generally indicative of specific taxa, and particularly function as keys in taxonomy and species delimitation. In this study, a non-biting midge species with an Einfeldia-like superior volsella makes it hard to accurately determined based on its morphological characteristics. Molecular genes of two ribosomal genes and three protein-encoding genes were compiled to construct a related genera phylogeny and to address the taxonomic issues. Phylogenetic inference clearly supports the undetermined species as belonging to Kiefferulus. Therefore, a new species classified in the genus Kiefferulus is described and figured as an adult male from Oriental China. The species could be easily distinguished from other species in having an Einfeldia-like superior volsella and a triangular tergite IX.

OBJECTIVE: To develop a rapid preimplantation genetic diagnosis method for α-thalassemia SEA deletion based on blastocyst cell whole genome amplification (WGA) combined with short fragment Gap-PCR.
METHODS: Using multiple displacement amplification (MDA) WGA technique, we established a double-fluorescent PCR system of the housekeeping genes GAPDH and β-actin for WGA quality testing, and a genotyping PCR system of mutant and normal short sequences for α-thalassemia SEA deletion. The sensitivity and accuracy of this method for diagnosis of α-thalassemia SEA deletion were evaluated by detecting lymphocyte samples containing different cell numbers from carriers of SEA deletion. The applicability of this method was evaluated by testing of 12 blastocyst biopsy samples.
RESULTS: Detection of lymphocyte samples with different cell numbers using the method developed in this study revealed no ADO in 3-cell samples, and the product quantity of WGA became stable for 4-cell samples. Genotyping of the 10 blastocyst biopsy samples with successful WGA showed a genotype of --SEA/αα in 5 samples and αα/αα in the other 5 samples, which were consistent with the verification results.
CONCLUSIONS: The method developed in this study is a complete testing process for 4-6 blastocyst biopsy cells to allow rapid, accurate, and cost-effective PGD genotyping of α-thalassemia SEA deletion using short fragment gap-PCR.

BACKGROUND: For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to genetic diagnosis and genetic counseling. One possible reason is the limited ability to detect disease causal structural variants (SVs) from short reads sequencing technologies. Long reads sequencing can produce longer reads (typically 1000 bp or longer), therefore offering greatly improved ability to detect SVs that may be missed by short-read sequencing.
RESULTS: Here we describe a case study, where WES identified only one heterozygous pathogenic variant for an individual suspected to have glycogen storage disease type Ia (GSD-Ia), which is an autosomal recessive disease caused by bi-allelic mutations in the G6PC gene. Through Nanopore long-read whole-genome sequencing, we identified a 7.1 kb deletion covering two exons on the other allele, suggesting that complex structural variants (SVs) may explain a fraction of cases when the second pathogenic allele is missing from WES on recessive diseases. Both breakpoints of the deletion are within Alu elements, and we designed Sanger sequencing and quantitative PCR assays based on the breakpoints for preimplantation genetic diagnosis (PGD) for the family planning on another child. Four embryos were obtained after in vitro fertilization (IVF), and an embryo without deletion in G6PC was transplanted after PGD and was confirmed by prenatal diagnosis, postnatal diagnosis, and subsequent lack of disease symptoms after birth.
CONCLUSIONS: In summary, we present one of the first examples of using long-read sequencing to identify causal yet complex SVs in exome-negative patients, which subsequently enabled successful personalized PGD.