Family Relationships Research Articles

12279 Molecular Strategy And Genetic Characterization Of A Large Cohort Of Pediatric Patients With Hereditary Hypophosphatemic Rickets: Advantages Of Next Generation Sequencing

Abstract Disclosure: N. Perez Garrido: None. P. Ramirez: None. G.L. Viterbo: None. M. del Pino: None. S. Abbate: None. N.I. Saraco: None. F. Tesan: None. M. Ciaccio: None. V. Fano: None. A. Belgorosky: None. R. Marino: None. Background: Hereditary hypophosphatemic rickets (HHR) is a group of rare disorders characterized by renal phosphate wasting and impairment of vitamin D metabolism. Different genetic defects can cause HHR, although they share similar clinical, radiological and biochemical features. Dominant X-linked HR (XLHR) is the most frequent form (1/ 20,000) caused by inactivating variants in PHEX gene. As affected individuals present with a broad phenotypic spectrum next generation sequencing (NGS) represent a useful tool for molecular diagnosis characterization. Aim: To report a molecular strategy and genetic characterization of a large cohort of pediatric patients with HHR followed in a single tertiary institution. Patients and Methods: We analyzed 77 affected patients from 60 non related families (and 58 parents) sent to our laboratory for molecular genetic testing under suspicion of HHR based on clinical, radiological and laboratory studies.In patients without hypercalciuria, Sanger sequencing of PHEX gene was initially performed. In female cases in which no alteration was detected, MLPA analysis was used to detect copy number variations. A group of patients with no proven variations in PHEX gene and those with hypercalciuria were analyzed using a NGS custom panel including 14 related genes. Results: Of the total 60 non related cases a pathogenic variant was found in 52 (87%). Regarding PHEX gene analysis, a pathogenic variant was found in 48/60 (80%), 27 were sporadic and 21 familial cases. Forty-one different pathogenic variants were found (5 gross deletions, 13 nonsense, 9 frameshift, 5 splice-site and 9 missense) distributed throughout the gene with higher prevalence from exon 15 to 22. 18/41 (44%) of variants were novel. RNA analysis was performed in 2 novel splice variants (c.849G>A-p.Glu283Glu and c.1586+6T>A) in which an abnormal splicing was confirmed.We found a pathogenic variant in 5/9 cases analyzed by NGS. Three of them in SLC34A3 gene (2 homozygous, 1 compound heterozygous), 1 in ENPP1 gene (compound heterozygous) and 1 in PHEX gene non-detected by Sanger sequencing. Discussion: This molecular strategy, along with a careful clinical and biochemical selection of patients, allowed us to perform genetic diagnosis in 87 % of non-related families. This study reports 21 novel pathogenic variants and it shows the greatest genetic characterization in pediatric HHR patients in Argentine population. The results obtained confirmed that PHEX is the most responsible gene for HHR phenotype, as previously described. By NGS, less common forms of rickets could be detected. Among them, the most frequent was HHR with hypercalciuria due to recessive mutations in SLC34A3 gene. NGS studies represent a useful tool, especially in those complex cases, to reach an accurate diagnosis, and they contribute to improve long term follow up of patients and genetic counseling. Presentation: 6/2/2024

Behavioral observation and assessment protocol for language and social-emotional development study in children aged 0–6: the Chinese baby connectome project

BackgroundThe global rise in developmental delays underscores the critical need for a thorough understanding and timely interventions during early childhood. Addressing this issue, the Chinese Baby Connectome Project (CBCP)’s behavior branch is dedicated to examining language acquisition, social-emotional development, and environmental factors affecting Chinese children. The research framework is built around three primary objectives: developing a 0–6 Child Development Assessment Toolkit, implementing an Intelligent Coding System, and investigating environmental influence.MethodsUtilizing an accelerated longitudinal design, the CBCP aims to enlist a minimum of 1000 typically developing Chinese children aged 0–6. The data collected in this branch constitutes parental questionnaires, behavioral assessments, and observational experiments to capture their developmental milestones and environmental influences holistically. The parental questionnaires will gauge children’s developmental levels in language and social-emotional domains, alongside parental mental well-being, life events, parenting stress, parenting styles, and family relationships. Behavioral assessments will involve neurofunctional developmental evaluations using tools such as the Griffiths Development Scales and Wechsler Preschool and Primary Scale of Intelligence. Additionally, the assessments will encompass measuring children’s executive functions (e.g., Head-Toe-Knee-Shoulder), social cognitive abilities (e.g., theory of mind), and language development (e.g., Early Chinese Vocabulary Test). A series of behavior observation. experiments will be conducted targeting children of different age groups, focusing primarily on aspects such as behavioral inhibition, compliance, self-control, and social-emotional regulation. To achieve the objectives, established international questionnaires will be adapted to suit local contexts and devise customized metrics for evaluating children’s language and social-emotional development; deep learning algorithms will be developed in the observational experiments to enable automated behavioral analysis; and statistical models will be built to factor in various environmental variables to comprehensively outline developmental trajectories and relationships.DiscussionThis study’s integration of diverse assessments and AI technology will offer a detailed analysis of early childhood development in China, particularly in the realms of language acquisition and social-emotional skills. The development of a comprehensive assessment toolkit and coding system will enhance our ability to understand and support the development of Chinese children, contributing significantly to the field of early childhood development research.Trial registrationThis study was registered with clinicaltrials.gov NCT05040542 on September 10, 2021.

Subjective experiences of language brokering among adolescents: Resilience, relationships, risky behaviors, and mental health outcomes.

Adolescents from immigrant families often translate or interpret communication on behalf of their parents, a process known as language brokering (LB). From a poststress growth framework, these LB experiences may yield opportunities for personal development and resilience or may contribute to risky behaviors and poor mental health. In this study, frequency of LB and subjective feelings of LB are tested as they relate to family relationships, resilience, risky behaviors, and mental health outcomes. In this study, 188 adolescents who language broker (female = 128, male = 60; Mage = 16.19 years, SD = 1.01; 5% African American/Black, 24% Asian American/Pacific Islander, 8.5% White, 52% Latino/Hispanic, and 11% mixed/multiracial) completed an online questionnaire about their frequency of LB (i.e., weekly and in general), extent of LB, feelings about LB (i.e., efficacy, burden, and intrusiveness), positive and negative attitudes toward LB, relationships with parents, engagement in risky behavior, and anxiety and depression symptoms. Findings indicated that feelings of efficacy and positive attitudes toward LB associated with resilience. Positive attitudes and a lack of negative attitudes associated with better family relationships. Risky behaviors were associated with age, extent and intrusiveness of LB, and a lack of positive attitudes. Female, extent of LB, and positive attitudes were related to anxiety. Building efficacy and fostering positive attitudes toward LB may foster positive outcomes and prevent deleterious outcomes. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Fear of Childbirth Impairs Breastfeeding Success Independent of Mode of Birth.

Background: The good qualities of breastfeeding are well known. The aim of this study was to closely examine the impact of specific maternal, prenatal, obstetric, and early neonatal factors on the success of breastfeeding. Materials and Methods: We used data from the Kuopio Birth Cohort study and analyzed 2,521 online questionnaires, which were answered by women 1 year after giving birth. Breastfeeding variables were divided into successful breastfeeding (breastfeeding exclusively with one's own breast milk ≥4 months or breastfeeding with formula ≥6 months) and poor breastfeeding (breastfeeding exclusively with one's own milk <4 months and duration of all breastfeeding <6 months) for univariate and multivariable analyses. Results: In this study, 97.8% (N = 2,466) reported breastfeeding their newborns for ≥1 postnatal week, and 75.2% (N = 1,896) breastfed newborns for ≥6 months. The rate of breastfeeding for ≥6 months increased from 71.3% to 84.7% between 2013 and 2020. In the multivariable analysis, poor breastfeeding success was associated most significantly with smoking during pregnancy (adjusted odds ratio [aOR] 4.64; 95% confidence interval [CI] 2.75-7.81), twin pregnancy (aOR 4.13; 95% CI: 2.10-8.15), maternal obesity (body mass index > 35) (aOR 3.27; 95% CI: 2.15-4.99), fear of childbirth (aOR 2.80; 95% CI: 1.89-4.13), and birth during the period of 2013-2014 (aOR 2.94; 95% CI: 2.08-4.14) or 2015-2016 (aOR 2.62; 95% CI: 1.85-3.70). Other significant factors related to poor success were younger maternal age, nonmarried family relationships, passive or quitting smoking before or in the first trimester, any hypertensive disorder during pregnancy, birth by nonelective cesarean, and lowest or highest quartiles of birth weight. Conclusions: Mother's fear of childbirth is strongly associated with the poor breastfeeding success even after controlling for mode of birth.

Digital technology and psychological happiness: the mediating roles of interpersonal relationships and employment situations.

Psychological happiness represents the ultimate pursuit of human beings, and the impact of digital technology on psychological happiness is becoming increasingly significant in the era of the digital economy. Based on data from 2020 China Family Panel Studies (CFPS), this study constructs an empirical model that examines the effect and mechanism of digital technology on happiness. Additionally, this study investigates the heterogeneity and robustness of the impact of digital technology on happiness. The research conclusions are as follows: Firstly, digital technology can promote psychological happiness. When controlling for other factors, the marginal effect coefficient of digital technology is 0.031. Secondly, the effect of digital technology on personal happiness varies among different groups, particularly among women, young individuals, primary and college graduates, and rural residents. Furthermore, as absolute income increases, the happiness effect of digital technology diminishes. Thirdly, in terms of the influencing mechanism, digital technology indirectly affects individual happiness by influencing health status, interpersonal relationships, employment situations and income levels. Specifically, digital technology negatively impacts personal health, interpersonal relationships, and agricultural work, while positively impacting family relationships, non-agricultural employment, absolute income and relative income. Digital technology affects happiness through these channels indirectly. Based on the study results, it is proposed that efforts should be made to enhance the development of digital technology infrastructure in remote rural areas, reduce the financial burden associated with digital technology, and promote the digital technology ecosystem. Moreover, providing online services, such as e-commerce, travel reservations, and digital financial management, can improve access to digital technology in rural areas and contribute to increased happiness levels. Simultaneously, there is a need to strengthen digital skills training, particularly among vulnerable populations such as the elderly and rural residents, to improve their proficiency in digital technologies. This can be achieved through the integration of additional educational resources, thereby facilitating cost-free digital technology training and guidance. Meanwhile, it is essential to vigorously develop the new economy and innovative employment models, create job opportunities, foster entrepreneurial prospects, and improve income levels to enhance individual well-being.

Synergistic Effect of Learning Environments, and Familial Factors on Generation Z Learners’ Academic Achievement in Science

This descriptive-predictive study examined the interplay among learning environment factors (school, home, and community), familial factors (socioeconomic status and family relations), and academic achievement of 186 randomly selected Generation Z (Gen Z) learners. Factorial analysis demonstrated significant impacts of school and home learning environments on science academic achievement, while the community environment, in isolation, lacked significant effect. Interaction effects emphasized synergies between school and community, as well as school and home environments. However, there was an absence of a three-way interaction, suggesting limited combined impact. Analysis of data further unveiled a significant, large main effect of family relations on academic achievement, while economic and social status showed no significant impact. The interaction between family relations and social status was statistically significant which indicates a more substantial combined influence on science academic achievement than individual factors. Multiple linear regression analysis identified four significant predictors – positive family relations, higher family social status, and robust home, and community support – contributing to a model explaining 49.4% of variance in their science academic achievement. These results emphasize the importance of nurturing home and community environments, alongside fostering strong family relationships, as pivotal factors in Generation Z learners' academic pursuits.

Prevalence of depressive symptoms among urban school adolescents in Vietnam: The role of youth, family, and school relationships

BackgroundAdolescents frequently encounter a spectrum of psychiatric conditions, predominantly depressive and anxiety disorders, along with various behavioral disturbances. ObjectiveThis investigation aims to delineate the prevalence of depressive disorders among adolescents in urban Vietnam and to elucidate the interrelationships between familial and school-related dynamics and adolescent depression. Materials and MethodsA cross-sectional survey was conducted in 2022, involving 507 students aged 15 to 17 from high schools in Hanoi, Vietnam. Reynolds Adolescent Depression Scale - Second Edition (RADS-2) was used to assess the presence of depressive symptoms. Social-demographic characteristics, adolescent-family and adolescent-school relationships, and academic environment characteristics of high school students were interviewed. Multivariate Tobit regression models were employed to discern contributory factors across four domains of RADS-2. ResultsAmong the 507 adolescents, the mean scores on the RADS scale were 15.1 ± 4.2 for the dysphoric mood domain, 16.4 ± 4.0 for the anhedonia-negative domain, 13.1 ± 4.4 for the negative self-evaluation domain, and 12.4 ± 3.7 for the somatic complaints domain. The analysis indicated that adolescents with suboptimal parental relationships, absence of confidants, frequent parental conflicts, exposure to parental arguments, substantial exam-related stress, or overwhelming academic demands were more likely to exhibit elevated depressive symptoms. Conversely, adolescents who were satisfied with their friendships at school and received care, support from teachers or friends, and involved in school's extracurricular activities lower exhibited levels of depression. ConclusionsFindings reveal the significant impact of family and peer relationships, as well as academic stress, on the development of depressive symptoms. These significant results inform the design and development of future interventions aimed at mitigating depression risks among high school students, emphasizing the crucial roles of both educational institutions and family dynamics.

Sibling relational aggression: Developmental change and associations with family relationships across adolescence.

Sibling relational aggression is an understudied social and family process that is of developmental significance in adolescence, a period of interpersonal relationship development. This study examined developmental change in sibling relational aggression across adolescence and used multilevel actor-partner independence models to test its longitudinal associations with mother-adolescent, father-adolescent, and sibling relationship qualities. Participants were 196 adolescent (firstborn-secondborn) sibling pairs from predominantly White families who averaged 16.47 years (SD = .80) and 13.88 years (SD = 1.15) of age, respectively, at baseline. Data were collected separately from each sibling during home interviews at three timepoints, each spaced a year apart. Longitudinal growth modeling revealed declines in sibling relational aggression from early to late adolescence. Findings from longitudinal multilevel actor-partner independence models revealed a negative within-person (WP) effect of father-adolescent intimacy and a positive WP effect of father-adolescent conflict on sibling relational aggression: On occasions when adolescents reported lower intimacy or more conflict with their fathers than usual (compared to individuals' own cross-time averages), adolescents reported experiencing more sibling relational aggression than usual. A between-person (BP) effect of mother-adolescent conflict also indicated that the cross-time average of mother-adolescent conflict was linked positively to the cross-time average of sibling relationship aggression. Primarily at the WP level, associations also emerged between lower sibling intimacy and higher sibling conflict and sibling relational aggression. For relationships with fathers and siblings, some effects were moderated by sibling structural characteristics. Discussion highlights the interplay of family relationship dynamics, including gender dynamics, and sibling relational aggression in adolescence. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Because You Can’t

This autoethnographic project explores my familial context regarding the concepts of covering and narrative inheritance. According to Yoshino, “to cover is to tone down a disfavored identity to fit into the mainstream.”1 On the other hand, narrative inheritance refers to stories given to children by and about family members. The stories we inherit within the family provide us with a framework to understand our identities through our forebears. In talking about what we inherit narratively, we achieve a sense of completion and fulfillment.2 All the narratives included in this article render pivotal moments in my family history of truth omission and distortion, which, in hindsight, began to predominate my family’s communication style in the wake of my mother’s death in October 2003. Utilizing creative autoethnographic narratives to investigate covering in the context of my narrative inheritance, I attempt to fill in the holes that I have come across examining my family history and unpacking my identity, and to piece together family silences and secrets. In doing so, I aim to fulfill my narrative inheritance and illuminate ways that secrets can breed tension in family relationships, disorient our identities, and disrupt our lives. I hope that providing this evocative account can foster better understanding of how members of a family present values, restrain identity, constitute communication styles, and negotiate family culture by engaging in patterns of covering.

Descriptive and content analysis of breast cancer vlogs on YouTube.

258 Background: Vlogs, or “video blogs,” are personally-created experiential videos based on wide-ranging topics, usually posted to YouTube. Many women with breast cancer (BC) document their cancer experiences in YouTube vlogs. These may have the potential to serve as peer-to-peer support and provide community. This study provides a descriptive and content analysis of vlogs by women with BC. Methods: YouTube was searched in incognito mode in 11/2023 using the search terms “breast cancer vlog.” A maximum of 10 videos/creator were included based on viewership and date created.Video characteristics collected included: title, length, number of views, likes, comments, and playlist inclusion. Videos were assessed for sponsorship, presence of explanation and discussion on BC, type of content, and themes. Creator characteristics included age, location, and engagement approaches. Descriptive and content analysis were performed to assess and analyze video content and potential areas where peer-to-peer support may be provided. Results: 90 vlogs by 13 creators were included, all originating from personal accounts. Mean video length, number of views, and number of comments were 21.4 minutes (SD 9.1), 266,780 (SD 534,465), and 1485 (SD 3422), respectively. 38.9% included hashtags. 12.2% included paid sponsorships. Most common filming location was at home (96.7%), followed by the hospital (31.1%), or in the car (21.1%). Home vlogs were most often set in the living room (44.3%), bedroom (33.0%), or kitchen (20.6%). 56.7% included visuals of treatment as well as physical findings. Creators addressed motivation for vlogging in 48.9%; the two most common reasons were wanting to build a community and helping others in a similar situation. In 46.7%, creators explicitly expressed emotion. Most common themes were treatment (85.6%), mental health (81.1%), side effects (72.2%), appearance (63.3%), and family relationships (36.7%). Subthemes included young age, finances, and the importance of online community support. Patient-directed advice was offered in 60.0%, mostly on treatment-related issues. In 56.7%,creators provided explicit treatment definitions. Chemotherapy was discussed in 70.0%; surgery in 57.8%, primarily mastectomy; radiation in 30.0%; general side effects in 71.1%. 24.4% were about a new diagnosis. When mentioned (44.4%), most common creator location was the USA. When mentioned (30.0%), most common age demographic was 20-29 years old. Conclusions: Vlogs by women with BC receive significant levels of engagement. The dedication to building community demonstrated by vlog creators, and the personal nature of their storytelling, advice, and suggestions, may make these vlogs a potential resource for peer-to-peer support.

Practical aspects of deferred payment of state duty in courts of the Republic of Kazakhstan

The paper reveals the features of introducing a new institute of deferral of payment of the state duty on civil cases in the courts of the Republic of Kazakhstan. These novelties are primarily aimed at ensuring access to justice for citizens and legal entities that find themselves in financial constraints. Granting a deferral allows even in case of temporary financial difficulties to realize the constitutional right to judicial protection, guaranteeing the opportunity to appeal to the court. This institution has been studied in the context of analyzing the judicial practice of considering the applications received for resolution, with the presentation of individual examples, including disputes arising from matrimonial and family relations. The normative basis of the study is the Constitution of the Republic of Kazakhstan, the Code of the Republic of Kazakhstan “On Taxes and Other Obligatory Payments to the Budget”, the Civil Procedural Code of the Republic of Kazakhstan and other laws. The authors have analyzed statistical data on the results of consideration of applications for deferral of state duty with the study of data available on the websites of judicial authorities and the algorithm developed by the Supreme Court of the Republic of Kazakhstan when considering applications for deferral of state duty in the courts. The study of this institute has shown the need to develop a uniform judicial practice in the consideration of relevant petitions, which will lead to the correct application of the norms of tax legislation on the issues of granting deferral of payment of state duty in the courts of the Republic of Kazakhstan. The obtained results led to a rethinking of the process of improving the national legislation.

First report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats

Polycystic kidney disease (PKD) is the most common monogenic disease in cats, especially in Persian and related breeds. In this report we describe for the first time PKD in two related families (full sibling tomcats) of Canadian Sphynx cats. Altogether fourteen cats, including five kittens in each family, were investigated using ultrasonography. Cysts were observed in both tomcats and in five kittens (two and three in the litters). The number of cysts in a single kidney varied from one to six. A molecular search for the causative dominant pathogenic variant (Felis_catus_9.0, NC_018738.3: chr E3:g.42858112C>A (c.9882C>A)) in the PKD1 gene showed full concordance with clinical investigations: all cats with cysts in their kidneys were heterozygous (C/A) for this variant.

Health-related quality of life of children and adolescents with sickle cell disease: An evolutionary concept analysis

The concept of Health-Related Quality of life (HRQOL) of children and adolescents with Sickle cell disease (SCD) is not clearly understood due to the lack of available studies. This review aimed to elucidate various attributes and related concepts of HRQOL in children and adolescents with SCD using Rodgers' (2000) concept analysis framework. A systematic search was performed to identify studies reporting the attributes, antecedents, consequences, surrogate terms, and related concepts of HRQOL in children and adolescents with SCD. The review included 75 articles, including 70 quantitative, two mixed-methods, and three qualitative studies. These were categorized into attributes, antecedents, consequences, surrogate terms, related concepts, and an exemplar of HRQOL in children and adolescents with SCD. The review identified nine important attributes. It includes multidimensional and dynamic concepts, acknowledging the illness, maintaining emotional balance and self-control, coping with the disease, pain management, stigma and discrimination, treatment burden, palliative care and personal resilience. The antecedents were knowledge and attitude toward the disease, self-efficacy, social support, spirituality and spiritual well-being, disease severity, access to healthcare, environmental factors, and financial considerations. The consequences were independence in personal life, improved physical health outcomes, psychological well-being, family and caregiver well-being, improved family, social and peer relationships and social interactions, improved school performance, and improved overall HRQOL and long-term outcomes. This analysis provides an overview of HRQOL concepts related to children and adolescents with SCD, guiding further research into nursing care and clinical practice.

DEPRESSION AMONG INDIAN STUDENTS AND ITS ASSOCIATION WITH PERCEIVED TMA ACADEMIC ENVIRONMENT, LIVING ARRANGEMENTS AND PERSONAL ISSUES

The point of the ponder is to discover the level of discouragement among college understudies over sexual orientation, scholarly stream, semesters, recognition of family environment and relationship with guardians, scholarly execution, and family wage. In expansion, the think about analyzes the affiliation between students' seen college scholarly environment, living courses of action, individual issues, and sadness. Seven speculations were defined for confirmation. An add up to of 717 understudies were selected taking after the multistage cluster inspecting strategy, and information were collected by an extraordinarily planned organized survey, scholastic accomplishment record and a standardized College Understudies Misery Stock. Discoveries unveiled that 37.7%, 13.1%, and 2.4% of the understudies were enduring from direct, extreme, and amazingly serious misery. A critical contrast was found over semester, that's, semester II students detailed the next level of misery than semester III understudies. So distant as scholastic stream is concerned, understudies from humanities and social science were found to be enduring from more sadness compared to understudies from science and administration streams. The think about advance unveiled that the understudies who detailed positive sees almost the college scholarly environment and living courses of action had lower level of misery compared to their partners. Individual resilience's such as being able to sharing individual issues with others and doing customary work out were found to be related with positive mental wellbeing. The discoveries of the consider emphasize the require for quick mental wellbeing back administrations for approximately 15.6% of the understudies who were either enduring from serious or greatly extreme sadness at the Tashkent medical institute.

Identification, charectrization and genetic transformation of lignin and pectin polysaccharides through CRISPR/Cas9 in Nicotiana tobacum.

CRISPR/Cas9 system has been successfully implemented in animals and plants is a second-generation genome editing tool. We are able to optimize a Cas9 system to edited Ntab06050 and Ntab0857410 genes in HD and K326 tobacco cultivars respectively. The gene Ntab06050 is related to lignin synthesis while the gene Ntab0857410 belongs to pectin synthesis by utilizing Agrobacterium-mediated leaf disc method. We have constructed total eight different constructs for the lignin related gene family CCoAMT, out of which three constructs have been selected from Ntab0184090, two constructs from Ntab0392460 while one construct from each Ntab0540120, Ntab0857410 and Ntab0135940 gene. To study the Cas9 system in pectin related genes, total five constructs have been utilized under Cas9 system and multiple target sites were selected by identifying PAM sequences. Out of which three constructs were targeted from NtabGAE1and NtabGAE6 homologous while two were targeted from NtabGAUT4 homologous. Where as, UDP-D-glucuronate 4-epimerase gene family is a Golgi localized, might have a role in the interconvertion of UDP-D-GlcA and UDP-D-GalA in pectin synthesis. We have succeeded in the mutation of pectin related NtabGAUT4 and lignin related NtabCCoAMT genes with 6.2% and 9.4% mutation frequency.

Adverse outcomes and mortality in individuals with eating disorder-related electrolyte abnormalities in Ontario, Canada: a population-based cohort study

Individuals with eating disorders are at a higher risk of electrolyte abnormalities than the general population. We conducted the first representative cohort study assessing whether electrolyte abnormalities in people with eating disorders were associated with mortality and physical health outcomes. This was a retrospective population-based cohort study in Ontario including people aged 13 years or older with an eating disorder and an outpatient electrolyte measure within 1 year (between Jan 1, 2008 and June 30, 2019). An electrolyte abnormality was any of hypokalaemia, hyperkalaemia, hyponatraemia, hypernatraemia, hypomagnesaemia, hypophosphataemia, metabolic acidosis, or metabolic alkalosis. The primary outcome was all-cause mortality. Secondary outcomes were hospitalisation, a cardiac event, infection, acute or chronic kidney disease, fracture, and bowel obstruction. In additional analyses, we examined a younger cohort (<25 years old) and individuals with no previously diagnosed secondary outcome. We involved people with related lived or family experience in the study. 6163 patients with an eating disorder and an electrolyte measure within 1 year since diagnosis (mean age 26·8 years [SD 17·5]; 5456 [88·5%] female, 707 [11·5%] male; median follow-up 6·4 years [IQR 4-9]) were included. Ethnicity data were not available. The most common electrolyte abnormalities were hypokalaemia (994/1987 [50·0%]), hyponatraemia (752/1987 [37·8%]), and hypernatraemia (420/1987 [21·1%]). Overall, mortality occurred in 311/1987 (15·7%) of those with an electrolyte abnormality versus 234/4176 (5·6%) in those without (absolute risk difference 10·1%; adjusted hazard ratio 1·23 [95% CI 1·03-1·48]). Hospitalisation (1202/1987 [60·5%] vs 1979/4176 [47·4%]; 1·35 [1·25-1·46]), acute kidney injury (206/1987 [10·4%] vs 124/4176 [3%]; 1·91 [1·50-2·43]), chronic kidney disease (245/1987 [12·3%] vs 181/4176 [4·3%]; 1·44 [1·17-1·77]), bone fracture (140/1987 [7·0%] vs 167/4176 [4·0%]; 1·40 [1·10-1·78]), and bowel obstruction (72/1987 [3·6%] vs 57/4176 [1·4%]; 1·62 [1·12-2·35]) were associated with an electrolyte abnormality, but not infection or a cardiovascular event. Findings were consistent in young individuals (<25 years old) and those without secondary outcomes at baseline, by eating disorder type, and by sex. Electrolyte abnormalities are associated with death and poor physical health outcomes, supporting the importance of monitoring and possible interventions to prevent adverse outcomes. Findings also call for a refinement of the definition of severity of eating disorder and replication of these findings in other jurisdictions. None.

Partner and social support in childbearing and rearing in a Gulf Coast Native American community.

This study sought to understand the roles of partners in pregnancy, childbirth, and childrearing in Indigenous communities. It explores supportive and unsupportive attitudes in the relationships mothers experienced, and how these relationships affected their lives. Settler colonialism has negatively impacted Indigenous communities. However, little research has explored how it has influenced partner and social support during the perinatal time period. Through 31 semistructured interviews with women from a tribe in the southeastern United States, participants described their experiences with supportive and unsupportive partners and how that shaped their experiences during pregnancy, childbirth, and childrearing. Participants described themes of (a) supportive and unsupportive partner relationships, (b) importance of partner support in childbirth, and (c) mothers as primary caregivers. Results suggest that women experienced a wide range of partner relationships, and they relied more on their female family members to provide support during this time, rather than counting on their male counterparts. Health care providers may want to take these findings into consideration when approaching their patient's care. These findings indicate that the impacts of settler colonialism continue to impact family relationships for the participants in this study.

The rs6967330 minor allele in CDHR3 is a significant risk factor for severe acute exacerbations in chronic rhinosinusitis

Acute exacerbations of chronic rhinosinusitis (AECRS) are commonly triggered by rhinovirus (RV) infections with secondary bacterial infections. Risk factors for AECRS are not well understood. To determine if carriers of the minor allele rs6967330 (AA/AG) in the Cadherin related family member 3 (CDHR3) gene have an increased risk for RV infections in AECRS in vivo and identify CDHR3 genotype-dependent host responses to RV infection in differentiated nasal airway liquid interface (ALI) cultures ex vivo. We performed a prospective year-long study of adult subjects with chronic rhinosinusitis (CRS) by rs6967330 genotype (AA/AG, n=16; GG, n=38). We contacted subjects every 2 weeks, and if they reported AECRS clinical data were collected. ALI cultures of adults with CRS (AG/AA,n=19; GG,n=19) were challenged with RV-A and RV-C. We measured viral copy numbers at 4- and 48-hours post-infection and RNA transcriptomes and cytokines at 48 hours post infection. Subjects with the minor allele had significantly higher rates of RV and bacterial infections than those with the major allele. ALI minor allele cultures had higher viral copy numbers of RV-A and RV-C after 48 hours compared to the major allele. Differentially expressed genes (DEG) and pathways identified an upregulation of IL-10 and IL4/13 pathways and a significant downregulation of toll like receptor (TLR) pathways in the minor allele cultures after RV-A and RV-C infection. Unsupervised hierarchical analysis of all DEGs suggest that allergic rhinitis had an additive effect on this response. The rs6967330 minor allele is associated with increased RV-A and RV-C replication, downregulation of TLR-mediated responses and increased T2-type and cytokine and chemokine responses during RV infection.

THE PSYCHOLOGICAL IMPACT OF TRAUMATIC EXPERIENCES ON FAMILY PERCEPTIONS AMONG YOUTH

In modern psychology, childhood trauma is recognized as a critical factor influencing personal development and mental health. Traumatic experiences disrupt a young individual's inner world, affecting their life trajectory and relationships. While these experiences can cause distress and reduce quality of life, they also have the potential to build resilience. Among youth, trauma frequently reshapes family perceptions, impacting trust, emotional bonds, and family dynamics. This article aims to explore the complex interplay between trauma and family perceptions, with implications for caregivers, educators, and mental health professionals. The study seeks to examine how traumatic childhood experiences influence youth perceptions of family dynamics, relationships, and values. By understanding these impacts, the study aims to provide insights into the role of family as a support system in fostering resilience and promoting trauma recovery among young people. The study employs a mixed-methods approach, combining theoretical analysis with empirical research involving 47 students from the National University “Zaporizhzhia Polytechnic.” Data collection tools include the Traumatic Events Questionnaire, Eysenck’s Self-Assessment of Mental States, and the Childhood Trauma Presence Questionnaire. Quantitative data are analyzed using descriptive statistics, while qualitative data are examined through thematic analysis. A correctional-developmental training program, "The Impact of Childhood Trauma on Future Family Formation," is integrated to provide therapeutic intervention. The findings reveal that childhood trauma significantly impacts youth perceptions of family, often leading to heightened anxiety, frustration, and rigidity. Trauma was observed to affect family attachment and trust, with some youth perceiving their families as less supportive. Conversely, supportive family environments were shown to mitigate these negative effects, highlighting the protective role of positive family relationships in trauma recovery. The intervention program demonstrated potential in improving resilience and family perceptions among participants. The study underscores the importance of therapeutic programs that address the psychological effects of trauma on youth, with an emphasis on family-based interventions. By fostering resilience and supporting healthy family relationships, these interventions can help youth navigate the long-term impacts of trauma. Future research should explore the influence of cultural and socioeconomic factors on family perceptions and trauma recovery, to better inform intervention strategies across diverse populations.

아동기 애착외상 경험이 있는 한 성인의 가족관계 경험과 회복에 대한 자문화기술지

Objectives: The purpose of this study is to explore the impact of childhood attachment trauma experiences in the original family on the experience of family relationships after marriage and the experience of restoring family relationships in the process of post-traumatic recovery from an insider's point of view, to help understand those who have experienced such trauma and to suggest counseling implications. Methods: For this purpose, we applied autoethnography, a qualitative research method, to collect data such as memory data, diary data including self-observation and self-analysis, and family interviews. The collected data were subjected to value coding, emotion coding, and longitudinal coding during data analysis. Results: As a result, it was confirmed that the experience of attachment trauma continues across generations and that maladaptive psychological processes resulting from the traumatic experience are repeated in family relationships after marriage. Moreover, the changing factors that appeared in the process of recovering family relationships were identified. Conclusions: The significance and limitations of this study were presented.