Family Patterns Research Articles

Hubungan Pola Komunikasi Keluarga Dengan Adiksi Media Sosial Pada Remaja

Social media addiction is a global issue and has become a prevalent habit, especially among teenagers. Social media addiction can be observed through the communication patterns in families. The aim of this study is to determine the relationship between family communication patterns and social media addiction in adolescents. This study employs a descriptive correlational design with a cross-sectional approach. The sample consists of 250 respondents selected through stratified random sampling. The measurement tools used are the Revised Family Communication Pattern questionnaire for family communication patterns and the Bergen Social Media Addiction Scale for social media addiction. Data analysis was conducted using the chi-square test. Result: the majority of respondents have a family communication pattern by conversation orientation, totaling 154 respondents (61.6%). The majority of respondents in social media addiction variable are at the allert level, totaling 135 respondents (54%). Statistical test results show a significant relationship between family communication patterns and social media adiksiion in adolescents (p value 0.00 < α 0.05). Conclusion Family communication patterns have a meaningful relationship with social media adiction. Therefore, families need to give special attention to their communication patterns with their children, as the impact significantly influences the character development of adolescents.

EFFECTS OF FAMILY DYNAMICS ON PSYCHOPATHIC TRAITS AND CRIMINAL TENDENCIES AMONG NON-CRIMINAL PEOPLE

The present study investigates the impact of family dynamics on the development of psychopathic traits in non-criminal populations. Utilizing a sample size of 200 participants, the study employs the Hare Psychopathy Checklist-Revised (PCL-R) to quantify psychopathic traits and examine the association with specific family patterns. The results indicate that poor parental supervision, inconsistent discipline, and high family conflict are significantly correlated with higher levels of psychopathic traits. Quantitative analysis reveals that individuals with high scores on the PCL-R are more likely to report negative family dynamics. Qualitative data from interviews and observations support these findings, highlighting the critical role of early family interactions in shaping psychological development. The study underscores the importance of early identification and family-based interventions to mitigate the development of psychopathic traits. These findings contribute to the broader understanding of psychopathy and offer valuable insights for developing targeted preventive strategies.

The prognostic significance and immune characteristics of bone morphogenetic proteins (BMPs) family: A pan-cancer multi-omics analysis.

Bone morphogenetic proteins (BMPs) are a group of cancer-related proteins vital for development and progression of certain cancer types. Nevertheless, function of BMP family in pan-cancer was not detailedly researched. Investigating expression pattern and prognostic value of the BMPs family (BMP1-8A and BMP8B) expression across multiple cancer types. Our research integrated multi-omics data for exploring potential associations between BMPs expression and prognosis, clinicopathological characteristics, copy number or somatic mutations, immune characteristics, tumor microenvironment (TME), tumor mutation burden (TMB), microsatellite instability (MSI), immune checkpoint genes and drug sensitivity in The Cancer Genome Atlas (TCGA) tumors. Furthermore, association of BMPs expression and immunotherapy effectiveness was investigated in some confirmatory cohorts (GSE111636, GSE78220, GSE67501, GSE176307, IMvigor210 and mRNA sequencing data from currently undergoing TRUCE01 clinical research included), and biological function and potential signaling pathways of BMPs in bladder cancer (BCa) was explored via Gene Set Enrichment Analysis (GSEA). Eventually, immune infiltration analysis was done via BMPs expression, copy number or somatic mutations in BCa, as well as validation of the expression levels by reverse transcription-quantitative PCR and western blot, and in vitro functional experiments of BMP8A. Discoveries displayed BMPs expression was related to prognosis, clinicopathological characteristics, mutations, TME, TMB, MSI and immune checkpoint genes of TCGA tumors. Anticancer drug sensitivity analysis displayed BMPs were associated with various drug sensitivities. What's more, it was discovered that expression level of certain BMP family members related to objective response to immunotherapy. By GSEA, we discovered multiple immune-associated functions and pathways were enriched. Immune infiltration analysis on BCa also displayed significant associations among BMPs copy number variations, mutation status and infiltration level of diverse immune cells. Furthermore, differential expression validation and in vitro phenotypic experiment indicated that BMP8A significantly promoted BCa cell proliferation, migration and invasion. Current results confirmed significance of both BMPs expression and genomic alteration in the prognosis and treatment of diverse cancer types, and suggested that BMPs may be vital for BCa and can possibly be utilized as biomarkers for immunotherapy.

VII. Eine Entwicklungsgeschichte des chinesischen Familien- und Erbrechts im Lichte der Rezeption des deutschen BGB

Summary In contrast with China’s several millennia of civilization history, its history of civil law legislation had not started until the late Qing-Dynasty (1911). This discrepancy stood out prominently in the correlated areas of the family law and inheritance law due to China’s cultural features and the compatible cultural awareness of its people, which had naturalized and legitimized their practices in both areas. Actually, in no other areas had the cultural consciousness, the deep-rooted cultural psychology and the consciousness-driven behavioral patterns of the Chinese families and individuals been more profoundly shaped by the rules of rites and etiquette, the ethical rules and the patriarchal clan system, central customary-legal elements enshrined in the Chinese history. As its key achievement, the legal modernization in the late Qing period (1902–1911) brought forth the Civil Code of the Qing- Dynasty (ZGE), the first such milestone in China’s legal history, initiating the civil law legislation in China. With regard to China’s special legal-historical and legal-cultural background, the drafters of the ZGE – especially its family and inheritance law – had to revolutionarily modernize the Chinese civil law, while at the same time, transferring certain traditional cultural legacies. This could not have been possible without adopting the German Civil Code (BGB) as the primary foreign codification model, especially from the legal-technical, legal-systematic and legal-dogmatic perspective. Ever since then, the evolution of the Chinese civil law has been closely connected with the adoption of the BGB, while the history of the former runs parallel to the history of the latter. The influences of the BGB on China’s major civil law codifications, including also the Civil Code of the Republic of China (1929–1931) and the PRC Civil Code (2020), have been significant and continuous. It is legal-historically insightful to probe into these influences while examining the evolutionary history of the Chinese family and inheritance law ever codified since the ZGE, and, accordingly, retracing and closely analyzing the pre-modern state of both areas.

KAJIAN TENTANG KARAKTERISTIK KELUARGA DAN POLA PEMBERIAN MPASI DAN HUBUNGANNYA DENGAN STATUS GIZI ANAK BALITA

The introduction of solid, semi-solid or soft foods is positively associated with nutritional status and reduces the likelihood of stunting. The results of the Indonesian Nutrition Status Survey in 2022 showed that the prevalence of stunting in Indonesia still reached 21.6%. West Java Province has a stunting prevalence of 20.2%, while in Bogor City it is still 19.3%. The purpose of the study was to analyze the relationship between family characteristics, complementary feeding patterns and the nutritional status of toddlers. The research design used a mix method (quantitative and qualitative). Quantitative research with a cross-sectional approach and qualitative research with indepth interviews (exploring complementary feeding patterns, problems, handling and educational needs related to complementary feeding). The qualitative exploration result were analyzed using deductive thematic. The study population was all toddlers aged 12-60 months in Bogor City, the sample size was 120 with purposive sampling. Statistical tests used chi-square test and Mann-whitney test. The results showed a significant relationship between family characteristics and patterns of complementary feeding with the children’s nutritional status under five. The results of qualitative exploration showed there were four themes, namely First, social and cultural and adverse beliefs. Second, lack of knowledge, Third, the environment (home and residence) is less supportive. Fourth, poor economy. The research concluded that there was a relationship between family characteristics and patterns of complementary feeding with the nutritional status of children under five. Efforts are needed to overcome the problem of stunting through education about complementary feeding.

Genome-wide identification and expression analysis of GRAS gene family in Eucalyptus grandis

BackgroundThe GRAS gene family is a class of plant-specific transcription factors with important roles in many biological processes, such as signal transduction, disease resistance and stress tolerance, plant growth and development. So far, no information available describes the functions of the GRAS genes in Eucalyptus grandis.ResultsA total of 82 GRAS genes were identified with amino acid lengths ranging from 267 to 817 aa, and most EgrGRAS genes had one exon. Members of the GRAS gene family of Eucalyptus grandis are divided into 9 subfamilies with different protein structures, while members of the same subfamily have similar gene structures and conserved motifs. Moreover, these EgrGRAS genes expanded primarily due to segmental duplication. In addition, cis-acting element analysis showed that this family of genes was involved involved in the signal transduction of various plant hormones, growth and development, and stress response. The qRT-PCR data indicated that 18 EgrGRAS genes significantly responded to hormonal and abiotic stresses. Among them, the expression of EgrGRAS13, EgrGRAS68 and EgrGRAS55 genes was significantly up-regulated during the treatment period, and it was hypothesised that members of the EgrGRAS family play an important role in stress tolerance.ConclusionsIn this study, the phylogenetic relationship, conserved domains, cis-elements and expression patterns of GRAS gene family of Eucalyptus grandis were analyzed, which filled the gap in the identification of GRAS gene family of Eucalyptus grandis and laid the foundation for analyzing the function of EgrGRAS gene in hormone and stress response.

Genome-wide identification, characterization and expression analysis of the DUF668 gene family in tomato.

The domain of unknown function 668 (DUF668) is a gene family that may play a key role in plant growth and development as well as in responding to adversity coercion stresses. However, the DUF668 gene family has not yet been well identified and characterized in tomato. In this study, a total of nine putative SlDUF668 genes were identified in tomato, distributed on six chromosomes. Phylogenetic analyses revealed that SlDUF668 proteins were classified into two major groups. Members within the same group largely displayed analogous gene structure and conserved motif compositions. Several cis-elements were exhibited in the upstream sequences of the SlDUF668 genes, including elements implicated in plant growth and development processes, abiotic stress and hormone responses. Further, the study assessed the expression patterns of the SlDUF668 gene family in various tomato tissues, five plant hormones treatments, three abiotic stresses using qRT-PCR. The SlDUF668 genes expressed ubiquitously in various tissues, and five genes (SlDUF668-04, SlDUF668-06, SlDUF668-07, SlDUF668-08 and SlDUF668-09) showed tissue specificity. And SlDUF668 genes responded to abiotic stresses such as salt, drought and cold to varying degrees. Overall, our study provided a base for the tomato DUF668 gene family and laid a foundation for further understanding the functional characteristics of DUF668 genes in tomato plants.

Different metazoan parasites, different transcriptomic responses, with new insights on parasitic castration by digenetic trematodes in the schistosome vector snail Biomphalaria glabrata

BackgroundGastropods of the genus Biomphalaria (Family Planorbidae) are exploited as vectors by Schistosoma mansoni, the most common causative agent of human intestinal schistosomiasis. Using improved genomic resources, overviews of how Biomphalaria responds to S. mansoni and other metazoan parasites can provide unique insights into the reproductive, immune, and other systems of invertebrate hosts, and their responses to parasite challenges.ResultsUsing Illumina-based RNA-Seq, we compared the responses of iM line B. glabrata at 2, 8, and 40 days post-infection (dpi) to single infections with S. mansoni, Echinostoma paraensei (both digenetic trematodes) or Daubaylia potomaca (a nematode parasite of planorbid snails). Responses were compared to unexposed time-matched control snails. We observed: (1) each parasite provoked a distinctive response with a predominance of down-regulated snail genes at all time points following exposure to either trematode, and of up-regulated genes at 8 and especially 40dpi following nematode exposure; (2) At 2 and 8dpi with either trematode, several snail genes associated with gametogenesis (particularly spermatogenesis) were down-regulated. Regarding the phenomenon of trematode-mediated parasitic castration in molluscs, we define for the first time a complement of host genes that are targeted, as early as 2dpi when trematode larvae are still small; (3) Differential gene expression of snails with trematode infection at 40dpi, when snails were shedding cercariae, was unexpectedly modest and revealed down-regulation of genes involved in the production of egg mass proteins and peptide processing; and (4) surprisingly, D. potomaca provoked up-regulation at 40dpi of many of the reproduction-related snail genes noted to be down-regulated at 2 and 8dpi following trematode infection. Happening at a time when B. glabrata began to succumb to D. potomaca, we hypothesize this response represents an unexpected form of fecundity compensation. We also document expression patterns for other Biomphalaria gene families, including fibrinogen domain-containing proteins (FReDs), C-type lectins, G-protein coupled receptors, biomphalysins, and protease and protease inhibitors.ConclusionsOur study is relevant in identifying several genes involved in reproduction that are targeted by parasites in the vector snail B. glabrata and that might be amenable to manipulation to minimize their ability to serve as vectors of schistosomes.

Intergenerational evolution of intangible cultural heritage through tourism development: perspectives of practitioners in Hangzhou China

ABSTRACT As cultural carriers of intangible cultural heritage (ICH), practitioners are key stakeholders in its inheritance and tourism use. Master-apprentice transmission is a major mechanism of generational inheritance. This paper examines ICH masters and apprentices at the Arts & Crafts Museum of Hangzhou, China, and analyzes the cultural composition of handicraft ICH and its intergenerational evolutionary mechanisms. Semi-structured interviews with two generations of practitioners and participant observation were undertaken. Research results reveal that intergenerational evolution involves multifaceted stakeholder interactions centred on practitioners with the support of government, management of the museum and participation of visitors. With patterns of family and master-apprentice inheritance, two generations of practitioners facilitate the evolution of handicraft ICH though both co-creations and conflicts. Second, six cultural attributes for handicraft ICH as of material, pattern, shape, technique, image and system are identified to visualise the process of intergenerational evolution. Third, driven by internal and external factors, ICH evolves through tracks of inheritance, selection and variation as presented through the above six cultural attributes. Moreover, the interdependence of cultural elements highlights the heritage framework of handicraft ICH and reflects the fluidity of authenticity. Accordingly, theoretical contributions and future research directions are offered for the sustainable development of handicraft ICH.

Genome-wide identification, molecular evolution and expression analysis of the B-box gene family in mung bean (Vigna radiata L.)

BackgroundMung bean (Vigna radiata L.) is an important warm-season grain legume. Adaptation to extreme environmental conditions, supported by evolution, makes mung bean a rich gene pool for stress tolerance traits. The exploration of resistance genes will provide important genetic resources and a theoretical basis for strengthening mung bean breeding. B-box (BBX) proteins play a major role in developmental processes and stress responses. However, the identification and analysis of the mung bean BBX gene family are still lacking.ResultsIn this study, 23 VrBBX genes were identified through comprehensive bioinformatics analysis and named based on their physical locations on chromosomes. All the VrBBXs were divided into five groups based on their phylogenetic relationships, the number of B-box they contained and whether there was an additional CONSTANS, CO-like and TOC1 (CCT) domain. Homology and collinearity analysis indicated that the BBX genes in mung bean and other species had undergone a relatively conservative evolution. Gene duplication analysis showed that only chromosomal segmental duplication contributed to the expansion of VrBBX genes and that most of the duplicated gene pairs experienced purifying selection pressure during evolution. Gene structure and motif analysis revealed that VrBBX genes clustered in the same group shared similar structural characteristics. An analysis of cis-acting elements indicated that elements related to stress and hormone responses were prevalent in the promoters of most VrBBXs. The RNA-seq data analysis and qRT-PCR of nine VrBBX genes demonstrated that VrBBX genes may play a role in response to environmental stress. Moreover, VrBBX5, VrBBX10 and VrBBX12 are important candidate genes for plant stress response.ConclusionsIn this study, we systematically analyzed the genomic characteristics and expression patterns of the BBX gene family under ABA, PEG and NaCl treatments. The results will help us better understand the complexity of the BBX gene family and provide valuable information for future functional characteristics of specific genes in this family.

Patterns of Family Upbringing and their Relationship to Self-Esteem among Gifted Students in Jordan

The study aimed to identify the patterns of family upbringing among gifted students in Jordan, their degree of self-esteem, and to reveal the relationship between patterns of family upbringing and self-esteem among gifted students in Jordan. To achieve the goal of the study, the researchers adopted the descriptive, correlational approach. The study population consisted of all students from King Abdullah II Schools for Excellence, numbering (4807), including (2536) males and (2271) females, distributed among (13) schools in all the governorates of the Hashemite Kingdom of Jordan, the north, center, and south. As for the study sample, it was chosen by the researchers by using a cluster random method, and the school was the unit of choice, where the study sample reached (356) male and female students. To collect data, a questionnaire was developed that included two tools: the first to measure the patterns of family upbringing and it consists of two pictures, one for the father and expresses the style of upbringing that the father uses with his children, and the second for the mother and it explains the style of upbringing that the mother uses with her children from the point of view of the gifted student children. As for the self-esteem scale, the researchers developed it, and then formulated the tool’s items in their form. The primary form reached (75) items distributed into two main areas: the effectiveness dimension and the value dimension. The results of the study showed that the patterns of family upbringing among gifted students from the father’s point of view were as follows: the democratic pattern to a high degree, the pattern of neglect to a moderate degree, the authoritarian style to a moderate degree. Whereas from the mother’s point of view they were as follows: the democratic pattern to a high degree, the pattern of neglect to a moderate degree, the authoritarian pattern to a low degree. The average means showed the degree of self esteem for gifted students was moderate, where the degree of value dimension was high, and the effectiveness dimension was moderate. The results of the study also showed that there is a statistically significant positive relationship between the father’s democratic style and the mother’s democratic style and the self-esteem scale in all its dimensions and the total score, and that there is a statistically significant negative relationship between the authoritarian style and the neglectful style of the father and the authoritarian style and the neglectful style of the mother and between the measure of self-esteem in all its dimensions and the total score. Conclusion: In light of the results of the study, the researchers presented a number of recommendations that were derived from the results of the study, the most important of which are: designing special curricula on the subject of self-esteem, theoretical and practical for university students to receive with the aim of empowering them with self-esteem skills, and emphasizing their activation in the school environment.

Labour migration of young women from the village to the capital in Bulgaria: A case study of woman servantry in Vakarel

The article is devoted to the maiden servantry in Bulgaria – a relatively late social phenomenon, but with important cultural and social consequences. It is also an indicator of the early modernization of Bulgarian society in the first half of the twentieth century. Using the example of Vakarel in Middle Western Bulgaria, the authors define servantry as a social mediator, facilitating the spread of urban culture and European models in the Shopluk villages around the capital Sofia. The emergence and development of female servantry as an enduring and sustainable social practice charts a path of change in marriage strategies and family patterns in a small rural community and thus in society as a whole. Gradually, from an escape from the adverse socio-economic factors and the harsh life in the village, temporary employment as a servant in the home of a wealthy family in the big city became an important moment in the young girl's growth and socialization, a condition for successful realization of family strategies in the rural environment. As a social phenomenon, servanthood has remained positively valued in the collective memory of the locals as part of the oral stories told within the family.

Comprehensive analyses of the ARF gene family in cannabis reveals their potential roles in regulating cannabidiol biosynthesis and male flower development.

Cannabidiol (CBD), as an important therapeutic property of the cannabis plants, is mainly produced in the flower organs. Auxin response factors (ARFs) are play a crucial role in flower development and secondary metabolite production. However, the specific roles of ARF gene family in cannabis remain unknown. In this study, various bioinformatics analysis of CsARF genes were conducted using online website and bioinformatics, quantitative real time PCR technology was used to investigate the expression patterns of the CsARF gene family in different tissues of different cannabis varieties, and subcellular localization analysis was performed in tobacco leaf. In this study, 22 CsARF genes were identified and found to be unevenly distributed across 9 chromosomes of the cannabis genome. Phylogenetic analysis revealed that the ARF proteins were divided into 4 subgroups. Duplication analysis identified one pair of segmental/whole-genome duplicated CsARF, and three pairs of tandemly duplicated CsARF. Collinearity analysis revealed that two CsARF genes, CsARF4 and CsARF19, were orthologous in both rice and soybean. Furthermore, subcellular localization analysis showed that CsARF2 was localized in the nucleus. Tissue-specific expression analysis revealed that six genes were highly expressed in cannabis male flowers, and among these genes, 3 genes were further found to be highly expressed at different developmental stages of male flowers. Meanwhile, correlation analysis between the expression level of CsARF genes and CBD content in two cultivars 'H8' and 'Y7' showed that the expression level of CsARF13 was negatively correlated with CBD content, while the expression levels of six genes were positively correlated with CBD content. In addition, most of CsARF genes were responsive to IAA treatment. Our study laid a foundation for the further studies of CsARFs function in cannabis, and provides candidate genes for breeding varieties with high CBD yield in cannabis production.

COVID-19 and Women's Health: A Panel Survey on the Perceptions of Family Caregiving among Middle-aged Korean Women

Background COVID-19 has significantly impacted society, economy, and health, altering family roles and caregiving concepts. Middle-aged women bear the responsibility of managing family health, educating children, and caring for the elderly. The pandemic has brought considerable changes to these roles. This study used data from the Korean Longitudinal Survey of Women and Families (KLoWF). Objective This study identifies factors that influence the perceptions of family caregiving among middle-aged Korean women during the COVID-19 pandemic. Methods Data from the 8th wave of the Korean Longitudinal Survey of Women & Families (KLoWF) for the year 2020, provided by the Korean Women's Development Institute, was used. The samples consisted of 1,120 middle-aged women between the ages of 45 and 65. Variables included general characteristics, changes in women's lives due to COVID-19, family roles, and perceptions of family caregiving. The data were analyzed using t-tests, ANOVA, post-hoc analysis with Scheffé's test, Pearson correlation to examine relationships between variables, and hierarchical regression to identify factors influencing perceptions of family caregiving. Results The hierarchical regression model indicated that the factors influencing the perceptions of family caregiving among middle-aged women were age, changes in women's lives due to the pandemic, and family roles, with an explanatory power of 24.7%. Conclusion This study revealed changes in the patterns of family and caregiving roles among Korean middle-aged women during the COVID-19 era, providing foundational data for future studies on the life perceptions of Korean middle-aged women, proactive health management practices among women, and the development of sociodemographic policies.

Genome-Wide Identification, Characterization, Evolutionary Analysis, and Expression Pattern of the GPAT Gene Family in Barley and Functional Analysis of HvGPAT18 under Abiotic Stress.

Glycerol-3-phosphoacyltransferase (GPAT) is an important rate-limiting enzyme in the biosynthesis of triacylglycerol (TAG), which is of great significance for plant growth, development, and response to abiotic stress. Although the characteristics of GPAT have been studied in many model plants, little is known about its expression profile and function in barley, especially under abiotic stress. In this study, 22 GPAT genes were identified in the barley genome and divided into three groups (I, II, III), with the latter Group III subdivided further into three subgroups based on the phylogenetic analysis. The analyses of conserved motifs, gene structures, and the three-dimensional structure of HvGPAT proteins also support this classification. Through evolutionary analysis, we determined that HvGPATs in Group I were the earliest to diverge during 268.65 MYA, and the differentiation of other HvGPATs emerged during 86.83-169.84 MYA. The tissue expression profile showed that 22 HvGPAT genes were almost not expressed in INF1 (inflorescence 1). Many functional elements related to stress responses and hormones in cis-element analysis, as well as qRT-PCR results, confirm that these HvGPAT genes were involved in abiotic stress responses. The expression level of HvGPAT18 was significantly increased under abiotic stress and its subcellular localization indicated its function in the endoplasmic reticulum. Various physiological traits under abiotic stress were evaluated using transgenic Arabidopsis to gain further insight into the role of HvGPAT18, and it was found that transgenic seedlings have stronger resistance under abiotic stress than to the wild-type (WT) plants. Overall, our results provide new insights into the evolution and function of the barley GPAT gene family and enable us to explore the molecular mechanism of functional diversity behind the evolutionary history of these genes.

Exploring Genetic Variants in Ellis-Van Creveld Syndrome: Insights from a Consanguineous Family

Background: Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder characterized by skeletal abnormalities and developmental anomalies, presenting significant challenges in diagnosis and understanding its genetic underpinnings. Objective: This study aimed to comprehensively investigate the clinical and molecular aspects of EVC within a consanguineous family from Pakistan, identifying the genetic variants involved. Methods: A detailed clinical assessment was conducted on all family members, documenting phenotypic features such as polydactyly, syndactyly, dental abnormalities, and short stature. Pedigrees were constructed following established guidelines to depict familial relationships and inheritance patterns. Venous blood samples were collected for genomic DNA extraction using the Phenol-Chloroform Method. Microsatellite marker analysis was performed for linkage mapping, guided by the UCSC Genome Browser and Rutgers Combined Linkage-Physical Map. Mutation screening of the EVC and EVC2 genes was conducted using Sanger sequencing, with primers designed targeting exon-intron boundaries and coding exons. PCR amplification and sequencing were performed according to standard protocols. Data analysis was carried out using SPSS version 25. Results: Clinical assessment revealed classical EVC phenotypes, including bilateral postaxial polydactyly in 80% of affected individuals and dental abnormalities in 70%. Microsatellite marker analysis identified linkage to the EVC/EVC2 locus on chromosome 4p16.2. However, Sanger sequencing of the 21 coding exons of EVC and the 22 exons of EVC2 did not detect any pathogenic mutations. Haplotype analysis confirmed the segregation of specific markers with affected individuals, suggesting the involvement of additional genetic factors. Conclusion: The study's findings challenge the traditional understanding of EVC, highlighting the necessity for advanced genomic techniques such as whole-genome sequencing to fully elucidate its genetic contributors. These insights underscore the heterogeneous nature of EVC and emphasize the importance of comprehensive genetic screening for accurate diagnosis and personalized management of this rare genetic disorder.

Hematologic malignancies in Li-Fraumeni syndrome.

10613 Background: Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome caused by mutations in the tumor suppressor gene TP53. Since its discovery, a growing list of cancers have been described in association with LFS, predominantly solid tumors. However, hematologic malignancies (HMs) cumulatively account for 4-10% of cancer diagnoses in LFS. In this study, we present the largest series of HMs in families with LFS with detailed clinical courses. Methods: This was a two-center retrospective observational cohort study conducted at the University of Utah and the University of Wisconsin-Madison with IRB approval. Cancer genetics clinic registries were reviewed to identify all families with LFS who also had a confirmed diagnosis of a HM. To meet criteria for LFS, the patient had to have a confirmed germline pathologic or likely pathologic TP53 variant. Patients with a TP53 variant of unknown significance (VUS) were also included if they met classical LFS testing criteria. Data was gathered by manual chart review of both the families’ histories and electronic health records. Results: Among the 121 families identified with LFS, 35 (29%) families had one or more HM. Of these, 17 individuals from 16 families (13%) had confirmed germline TP53 mutations. The most frequent HMs found were acute lymphoblastic leukemia (ALL) (n=6), non-Hodgkin lymphoma (NHL) (n=5), myelodysplastic syndromes (MDS) (n=3), and chronic lymphocytic leukemia (CLL) (n=2). Acute myeloid leukemia (AML), Langerhans cell histiocytosis (LCH), and chronic myeloid leukemia (CML) were each diagnosed once. Most cases were identified in adulthood (n=12, 71%). Of the 19 total HMs, the minority (n=5, 26%) were diagnosed post-cytotoxic therapy and only six (35%) individuals had received a diagnosis of LFS prior to HM diagnosis. The MDS/AML cohort (n=4) all exhibited bi-allelic inactivation of TP53. Two of these four patients achieved long term survival after matched-unrelated donor (MUD) hematopoietic stem cell transplant (HSCT). All three patients who underwent MUD donor HSCT had immune-mediated adverse events. Conclusions: In this study we found a significantly higher incidence of HMs in LFS than previously described, with a predominance of lymphoid over myeloid malignancies. The majority of patients had excellent outcomes after standard of care therapy pointing towards more favorable outcomes for patients with LFS and HMs than previously reported. We also report several unusual immune-mediated adverse events in our patients indicating possible immunogenicity of some TP53 variants. Most patients did not have prior exposure to cytotoxic treatments and were diagnosed with the HM prior to their LFS diagnosis. We also show that 38% of individuals with an HM have multiple family members with an HM, consistent with a familial HM pattern. This underscores the importance of detailed family and personal histories in HM patients found to carry a somatic TP53 variant.

Causative Analysis of Domestic Violence against Women in Punjab, Pakistan

Domestic violence against women is a significant issue globally, particularly in developing regions of Africa, Latin America, and South Asia. Many movements have been initiated to preserve human rights, advocating for women in developing countries like Pakistan. Despite addressing this issue, the desired outcomes have not been achieved. Therefore, the present study aimed to determine the causative patterns of Domestic Violence against Women (DVAW) in Punjab, Pakistan. A cross-sectional survey was conducted in the divisional districts of Punjab, Pakistan, using snowball sampling. Data were collected using an interview schedule among 216 married and divorced/separated victims of DVAW. Cross tabulation and logistic regression analyses were performed to analyze data. Results showed that economic exploitation was a significant cause of domestic violence (56%), leading to separation/divorce (27.8%). Women often experienced threats of divorce (50%), killing (44%), and kicking out (50%). Younger women, particularly those aged less than 20 years, 21–25, and 26–30, were more vulnerable to domestic violence. Education was a protective factor, with illiterate women experiencing a higher probability of domestic violence (OR = 14.693, p = 0.001) compared to highly educated women. Extended family patterns and unemployment were associated with an increased probability of domestic violence. The present study also concluded that immediate and multidimensional actions are needed to address this issue.

The familial transmission of suicide and non-suicidal self-injury in different income levels in town.

Prior researches have established that suicide and non-suicidal self-injury (NSSI) exhibit familial transmission patterns. However, the extent to which these patterns vary across different income levels remains unclear, as well as the specific factors that influence them. This study aimed to explore these questions. We analyzed data from 13,988 parent-child pairs in Chongqing, China, where the children were aged from 7 to 12 years old. Six income levels were considered, and the children's depression and anxiety symptoms were assessed using standardized scales (the Center for Epidemiological Studies Depression Scale for Children, [CES-DC], and the Screen for Child Anxiety Related Emotional Disorders [SCARED], respectively). Binary logistic regression analysis was employed to examine the transmission of suicide and NSSI across different income levels. Familial transmission of suicide was significant difference in all income levels except the highest, while familial transmission of NSSI was significant difference in all income levels except the lowest. Notably, in both low- and high-income levels, suicide and NSSI transmissions primarily occurred among male children, mothers with higher education, and children who spent long time with their mothers. Additionally, the transmissions were mediated partially or entirely by children's depression and anxiety symptoms. Future studies should investigate the separate effects of fathers' and mothers' suicide and NSSI histories on familial transmission patterns. The familial transmissions of suicide and NSSI exhibited distinct patterns across different income levels.

Genome-wide identification and expression-pattern analysis of sulfate transporter (SULTR) gene family in cotton under multiple abiotic stresses and fiber development.

Sulfate transporter (SULTR) proteins are in charge of the transport and absorption on sulfate substances, and have been reported to play vital roles in the biological processes of plant growth and stress response. However, there were few reports of genome-wide identification and expression-pattern analysis of SULTRs in Hibiscus mutabilis. Gossypium genus is a ideal model for studying the allopolyploidy, therefore two diploid species (G. raimondii and G. arboreum) and two tetraploid species (G. hirsutum and G. barbadense) were chosen in this study to perform bioinformatic analyses, identifying 18, 18, 35, and 35 SULTR members, respectively. All the 106 cotton SULTR genes were utilized to construct the phylogenetic tree together with 11 Arabidopsis thaliana, 13 Oryza sativa, and 8 Zea mays ones, which was divided into Group1-Group4. The clustering analyses of gene structures and 10 conserved motifs among the cotton SULTR genes showed the consistent evolutionary relationship with the phylogenetic tree, and the results of gene-duplication identification among the four representative Gossypium species indicated that genome-wide or segment duplication might make main contributions to the expansion of SULTR gene family in cotton. Having conducted the cis-regulatory element analysis in promoter region, we noticed that the existing salicylic acid (SA), jasmonic acid (JA), and abscisic acid (ABA) elements could have influences with expression levels of cotton SULTR genes. The expression patterns of GhSULTR genes were also investigated on the 7 different tissues or organs and the developing ovules and fibers, most of which were highly expressed in root, stem, sepal, receptacel, ovule at 10 DPA, and fiber at 20 and 25 DPA. In addition, more active regulatory were observed in GhSULTR genes responding to multiple abiotic stresses, and 12 highly expressed genes showed the similar expression patterns in the quantitative Real-time PCR experiments under cold, heat, salt, and drought treatments. These findings broaden our insight into the evolutionary relationships and expression patterns of the SULTR gene family in cotton, and provide the valuable information for further screening the vital candidate genes on trait improvement.