AI, be less ‘stereotypical’: ChatGPT’s speech is conventional but never unique

The evaluations on institutionalized care facilities from family members, after their loved ones moved into such services, are very different from culture to culture, family to family and person to person. According to a recent survey in the United States and China, it is found that different cultures and the different health conditions of the residents strongly influence family member's viewpoints on institutionalized care services. It is also found that the availability of the institutionalized care facilities plays a significant role, which strongly affects family members’ evaluations on nursing home services.

The speech act is an indispensable part of social communication. Among them, the speech acts between Chinese parents and their children have received more extensive attention and in-depth research. Under the theory of speech act, this study makes a study on the changes of the speech act of Chinese family members during the winter vacation from the perspective of politeness principle, cross-cultural differences, and other factors. Based on relevant theories, this study attempts to analyze the changes in speech behaviors of Chinese family members under special circumstances. Based on content analysis and discourse analysis, this paper analyzes the influence of request strategy, politeness degree of speech act on speech act, and the influence of speaker and listener’s status in the family on speech act. Based on the principle of politeness, Chinese parents are more likely to use direct strategies in language communication with their children. However, in oral communication with their parents, Chinese children tend to adopt directive and indirect strategies. Study shows that Chinese family members will use different ways to express the speaker’s respect or closeness to the speaker and listener. Chinese internally use modal words or politeness symbols to modify request speech acts.

Objective: Wolcott–Rallison syndrome is a rare autosomal recessive inheritance disorder caused by the defectiveness of eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3), which encodes the PKR-like endoplasmic reticulum kinase (PERK). Defect in EIF2AK3 results in a permanent diabetes in early infancy or newborn period, a tendency to develop skeletal fractures and other associated disorders such as severe liver and renal dysfunction, and central hypothyroidism. Two patients with Wolcott–Rallison syndrome-like manifestations in a Chinese family and family members were genetically analyzed to identify if any variations that occurred in EIF2AK3, which may cause Wolcott–Rallison syndrome.Methods: Whole-exome sequencing (WES) was performed to identify genetic variations, and Sanger sequencing was conducted to verify the identified variations in the family members with Wolcott–Rallison syndrome (WRS) clinical manifestations. Several bioinformatics tools were employed to predict the effect of EIF2AK3 variations on the protein function. The impact on PERK protein was analyzed by sequential analysis and evolution conservation study.Results: Two novel EIF2AK3 heterozygous single base variations (c.2818C>T and c.2980G>C) were detected in the proband. PERK has two functional domains: one is regulatory domain (aa 1–576), and the other is catalytic domain (aa 577–1,115). Both variations are missense mutations and locate in catalytic domain of PERK; c.2818C>T resulted in a residue substitution of proline for serine at amino acid site 940 (p.Pro940Ser), and variation c.2980G>C caused an amino acid change at position 994 from glutamic acid to glutamine (p.Glu994Gln). These novel missense variations may affect the physiological functions of PERK protein.Conclusions: Two novel compound heterozygous EIF2AK3 variations (c.2818C>T, p.Pro940Ser and c.2980G>C, p.Glu994Gln) were found in a Chinese family. The identification of the variations and verification of their pathogenicity extended the variation spectrum of EIF2AK3 variations causing Wolcott–Rallison syndrome and enriched valuable information for precise medical intervention for Wolcott–Rallison syndrome in China.

While previous studies indicated that seeking online health information could reduce individuals' cancer information overload, the results are inconsistent and have remained unknown in China. This study focuses on cancer patients' family members to determine whether online health information seeking helps lessen cancer information overload and the processes underlying this association. To examine the relationship between online health information seeking and cancer information overload through psychological empowerment and anxiety in the sequel, we carried out a quota sampling online survey in mainland China in 2023. We also looked at the underlying mechanism's moderated role in eHealth literacy. We standardized all variables from 0 to 1 using a Min-max normalization and conducted Model 6 and Model 92 of Process Macro to examine the mediation and moderation effects. The final sample size was 628 cancer patients' family members. We found that online health information seeking negatively impacted cancer information overload through psychological empowerment and anxiety (bp = -.007, CI: [-.013, -.002]). Specifically, online health information seeking was positively related to psychological empowerment (bp = .201, CI: [.149, .252]), which eased family members' anxiety (bp = -.271, CI: [-.420, -.122]) and eventually reduced cancer information overload (bp = .120, CI: [.063, .177]). Moreover, we observed that while online health information seeking increased family members' anxiety (bp = .126, CI: [.023, .228]), eHealth literacy served as a moderator to mitigate this association (bp = -.668, p < .05). The findings can be used by healthcare workers, public health policymakers, and online health information providers to advise Chinese cancer patients' family members about the overwhelming amount of information they may encounter when seeking online health information.

Background: Mutations in the collagen components of the glomerular basement membrane (GBM) often lead to hereditary glomerulonephritis. Previous studies have identified that autosomal dominant mutations of Col4A3, Col4A4 or Col4A5 are associated with thin basement membrane nephropathy (TBMN), Alport syndrome and other hereditary kidney diseases. However, the genetic mutations underlying other glomerulonephritis types have not been elucidated.Methods: In this study, we investigated a Chinese family with hereditary nephritis using the methods of genetic sequencing and renal biopsy. Genomic DNA was extracted from peripheral blood of the proband and her sister, and subsequently was performed genetic sequencing. They were found to have the similar mutation sites. Other family members were then validated using Sanger sequencing. The proband and her sister underwent renal puncture biopsies, and experienced pathologists performed PAS, Masson, immunofluorescence, and immunoelectron microscopic staining of the kidney tissue sections.Results: Through genetic sequencing analysis, we detected a novel heterozygous frameshift mutation c.1826delC in the COL4A4 (NM_000092.4) gene coding region, and 1 hybrid missense variation c.86G>A (p. R29Q) was also detected in the TNXB (NM_019105.6) gene coding region in several members of this Chinese family. Interestingly, we found that the same mutations caused different clinical features and distinct pathological changes in individual family members, which confirmed that pathological and genetic testing are crucial for the diagnosis and treatment of hereditary kidney diseases.Conclusion: In this study, we found a novel heterozygous mutation in Col4A4 and co-mutations of the TNXB gene in this Chinese family. Our study indicated that the same Col4A4 mutated variants produced different pathological and clinical changes in different family members. This discovery may provide novel insights into the study of hereditary kidney disease. In addition, new genetic biology techniques and renal biopsy of individual family members are essential.

All in My Family

BackgroundFamilial papillary thyroid cancer (fPTC) is recognized as a distinct entity only recently and no fPTC predisposing genes have been identified. Several potential regions and susceptibility loci for sporadic PTC have been reported. We aimed to evaluate the role of the reported susceptibility loci and potential risk genomic region in a Chinese familial multinodular goiter (fMNG) with PTC family.MethodsWe sequenced the related risk genomic regions and analyzed the known PTC susceptibility loci in the Chinese family members who consented to join the study. These loci included (1) the point mutations of the BRAF and RET; (2) the possible susceptibility loci to sporadic PTC; and (3) the suggested potential fMNG syndrome with PTC risk region.ResultsThe members showed no mutations in the common susceptible BRAF and RET genomic region, although contained several different heterozygous alleles in the RET introns. All the members were homozygous for PTC risk alleles of rs966423 (C) at chromosome 2q35, rs2910164 (C) at chromosome 5q24 and rs2439302 (G) at chromosome 8p12; while carried no risk allele of rs4733616 (T) at chromosome 8q24, rs965513 (A) or rs1867277 (A) at chromosome 9q22 which were associated with radiation-related PTC. The frequency of the risk allele of rs944289 (T) but not that of rs116909374 (T) at chromosome 14q13 was increased in the MNG or PTC family members.ConclusionsOur work provided additional evidence to the genetic predisposition to a Chinese familial form of MNG with PTC. The family members carried quite a few risk alleles found in sporadic PTC; particularly, homozygous rs944289 (T) at chromosome 14q13 which was previously shown to be linked to a form of fMNG with PTC. Moreover, the genetic determinants of radiation-related PTC were not presented in this family.

In Chinese culture, family members are the main decision maker on end-of-life (EoL) issues for patients with advanced cancer. Yet little is known about Chinese families' confidence in making EoL decisions and its associated factors. This study aims to investigate the status and associated factors of Chinese family members' confidence in making EoL decisions for patients with advanced cancer. This cross-sectional study used a convenience sample of 147 family members of patients with stage III or stage IV cancer from a tertiary cancer center in Guangzhou, China. The questionnaires included demographic information of patients and their family members, patients' EoL preferences, and the Chinese version of the Family Decision-Making Self-Efficacy (FDMSE) Scale. A total of145 family members (98.64%) completed the questionnaires. The average score of FDMSE was 3.92 ± 0.53. A multiple regression analysis showed that the factors associated with FDMSE included patients' duration of disease, health insurance, participation in EoL decision-making, the expression of unfilled wishes, and family members' employment status. Chinese family members were not confident enough in making EoL decisions for patients with advanced cancer. It is recommended to develop cultural-tailored advanced care planning models to clarify patient preferences and to enhance the family members' self-efficacy in making EoL decisions with or for patients with advanced cancer.

We aimed to evaluate the genotype-phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from peripheral leukocytes using standard methods. Targeted next-generation sequencing and Sanger sequencing were performed to find the pathogenic mutation in this family. Minigene assays were used to verify whether the novel intronic mutation SLC26A4c.765+4A>G influenced mRNA splicing. Hearing loss in the patients with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.765+4A>G and c.919-2A>G were detected in SLC26A4. Invitro minigene analysis confirmed that c.765+4A>G variant could cause aberrant splicing, resulting in skipping over exon 6. The SLC26A4c.765+4A>G mutation is the causative variant in the Chinese family with EVA. Particular attention should be paid to intronic variants.

Rapid economic growth in East Asia brings with it not only a development ‘miracle’ but also increased migration within and from China as well as in the Northeast–Southeast Asia corridors. The expanding migration flows make Chinese families in Singapore, Taiwan, mainland China and Hong Kong one of the most noticeable groups whose life trajectory is punctuated by migration. This special issue is a collective endeavour to explore deeply the internal dynamics between Chinese family members across generations in regard to care, production and reproduction in light of the challenges and opportunities brought about by neoliberal globalisation.

“Let them be”: Family members' perspectives on the participation of advanced cancer patients in nursing research: A qualitative descriptive study

In this study, we genotyped eight microsatellite markers on chromosome 5 and performed linkage analyses. We aimed to establish the pathogenic gene loci in this familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree. Reliable clinical information was obtained on the Chinese family members. Our study performed linkage analysis across these loci to identify and further characterize the pathogenic gene locus underlying FCMTE in Chinese patients. Positive signals (>1) were only obtained for 5p15.31-p15 (Logarithm of Odds (LOD) values 2.16 and 1.34 for D5S1957 and D5S2095, respectively; θ =0.0), supporting involvement of this region in the FCTME pedigree analyzed. Genetic analysis of a Chinese family provides further evidence for linkage of FCMTE to 5p15.31-p15.

Under the COVID-19 pandemic, online learning has become m sore frequently used and has carried over cultural characteristics. In China, grandparents exert a great impact on parent–child relationships and on children’s online learning process. This study proposed six models and examined the roles of various Chinese family members (father, mother, grandparents) and their online accompaniment time in promoting preschoolers’ math learning. A total of 3552 participants were recruited to finish online questionnaires about demographics, household adult–child interactions, online company time investment, and math language performance. We found that the relationships between father time investment online and children’s math language performance were mediated by the amount of time that maternal grandparents spent with children on online learning. To contextualize these findings, we discussed the unique Chinese cultural aspects of the grandparent–parent–children relationship during the development of online math language performance in Chinese families.

To describe and understand the experiences of Chinese family members of terminally ill patients during the end of life process in a palliative care unit. Palliative care aims to provide care to dying patients and their family members. Skillful interventions are necessary to help family members cope with the impending death of the patient and maintain their emotional equilibrium. Hence, it is important to understand the experiences of family members of palliative care. A phenomenological study was conducted. Data were collected by semi-structured interviews. We interviewed a purposive sample of 20 family members of terminally ill patients in a palliative care unit in Hong Kong. The data were analysed following Colaizzi's phenomenological methodology. Family members experienced anticipatory grief, with reactions that included anger, unease, sadness and helplessness. This was particularly acute when the patient was first admitted to the palliative care unit. However, the family members quickly accepted the reality and committed themselves to the care of the patient, seeking informational and emotional support from the nurses. The families wanted to be assured that the patient had been offered good care and suffered no pain. It was considered important to be with the patient during the dying process. This study demonstrated that Chinese family members were committed to the care of the patients in the palliative care unit. Cultural beliefs played a part in influencing family emotions and concerns. This study offers a direction for family interventions that acknowledge the reactions of family members to the admission of a patient to a palliative care unit. It highlights that families need active informational and emotional support from nurses.

Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression