Familial Forms Research Articles

Victims of Corruption Suffer Personal and Collective Loss: A Qualitative Study of Public Perceptions

This study aimed to identify citizens’ perceptions of the effects of administrative corruption on their lives. Data were gathered using semi-structured interviews with 15 citizens living in Tehran, Iran, recruited through the convenience sampling method. Two main themes emerged from the data: Negative individual consequences (including “negative emotional consequences”, “negative motivational consequences”, “negative moral and behavioural consequences” and “negative economic consequences”) and Negative collective consequences (including “negative consequences related to family formation and stability” and “negative social consequences”). The study reveals that participants have experienced or perceived adverse effects in the personal, family and social spheres as a result of administrative corruption. The impacts of corruption on people's lives can be taken into consideration when explaining the importance and necessity of designing and implementing preventive measures and policies aimed at reducing corrupt behaviours in public agents.

مسلم فیملی لا آرڈیننسء :1961معاشرتی تناظرمیں ایک مطالعہ

Islam is the complete code of life. It guides humankind in all areas of life especially the everyday life of a man. It has clearly mentioned the rights and duties of a man towards his parents, his wives, his children and other persons of the society. It guides and encourages a man to establish brotherhood and to coordinate with all especially with his family members. It has described the most and only effective way of family formation i.e. Nikah. At the time of Nikah and after Nikah, the rights and duties of both man and woman are described. It does not allow discrimination towards their children and parents. It makes a man bound to earn for himself as well as for his children, wives and parents. It does not allow a man to be cruel towards his wife and children. Even in case of Talaaq, it requires a man to be justified. In short, Islam guides a man in all areas of life.

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function

Approximately 5-15% of non-medullary thyroid cancers (NMTC) present in a familial form (FNMTC). Unlike sporadic NMTC, the genetic basis of FNMTC remains largely unknown, representing a limitation for diagnostic, therapeutic and follow-up decisions. Recently, germline mutations in DNA repair-related genes have been described in cases with thyroid cancer, suggesting a role in FNMTC etiology. Here, two FNMTC families were studied, each with two members affected with thyroid cancer. Ninety-four hereditary cancer predisposition genes were analysed through next-generation sequencing, revealing two germline missense variants in CHEK2 (c.962A>C, p.E321A and c.470T>C, p.I157T), which segregated with thyroid cancer in each FNMTC family. p.E321A, located in the CHK2 protein kinase domain, is a rare variant, previously unreported in the literature. Conversely, p.I157T, located in CHK2 forkhead-associated domain, has been extensively described, having conflicting interpretations of pathogenicity. CHK2 proteins (wild type and variants) were characterized using biophysical methods, molecular dynamics simulations, and immunohistochemistry. Overall, biophysical characterization of these CHK2 variants showed that they have compromised structural and conformational stability and impaired kinase activity, compared to the wild-type protein. Additionally, CHK2 appears to aggregate into amyloid-like fibrils in vitro, which opens future perspectives towards positioning CHK2 in cancer pathophysiology. CHK2 variants exhibited higher propensity for this conformational change, also displaying higher expression in thyroid tumors. The present findings support the utility of complementary biophysical and in silico approaches towards understanding the impact of genetic variants in protein structure and function, improving the current knowledge on CHEK2 variants’ role in FNMTC genetic basis, with prospective clinical translation.

Inclusive education for students with Autism Spectrum Disorder: pedagogical strategies, challenges and perspectives

Inclusive Education has become a priority in the contemporary educational context, especially with regard to students with Autism Spectrum Disorder (ASD). This study explores pedagogical strategies, challenges and perspectives associated with the inclusion of these students, recognizing the importance of adapting the educational environment to meet their specific needs. The research aims to analyze Inclusive Education for students with ASD, highlighting effective pedagogical strategies, identifying the challenges faced by educators and students, and anticipating future perspectives to improve the quality of inclusive teaching. The research is characterized as qualitative, seeking to understand the experiences, perceptions and practices of educators, students and family members involved in Inclusive Education for students with ASD. Furthermore, it uses a bibliographical review to theoretically support the discussions, examining previous studies and relevant legislation. The results show the effectiveness of adapted pedagogical strategies, such as the use of visual materials and educational technologies, to provide opportunities for the participation and learning of students with ASD. However, challenges are identified, such as the need to improve teacher training to deal with the specific demands of this group and the importance of promoting inclusion not only in the classroom, but also in the community and in family formation. Given the challenges identified, the final considerations highlight the urgency of investing in continuing training programs for teachers, the development of more comprehensive inclusion strategies and the promotion of an inclusive culture that transcends the physical barriers of the classroom. Therefore, by anticipating future perspectives, it is possible to strengthen the basis for a more effective Inclusive Education that fully meets the educational and social needs of students with ASD.

Student loan debt and family formation of youth in Japan

ABSTRACT Since the late 1990s, the number of college student loan debtors has increased rapidly in Japan. Despite the uniqueness of Japanese higher education policies in terms of tuition levels and heavy reliance on educational loans rather than grants, few studies have focused on the influence of student loans on adult youths’ lives. This study is the first to provide a detailed analysis of the relationship between student loan debt and youth life events. We explored the impact of student loan debt on family formation, using a data set of college graduates collected in 2017. We employed survival analysis methods to understand the relationship between student loan debt and marital decisions, and negative binomial models to analyze the impact of this debt on childbearing. The results showed that 2-year college graduate women with student loan debt were more likely to delay marital decisions than women without student loan debt. Taking out student loans also had a negative correlation to childbearing, which was also stronger for 2-year college graduate women. In conclusion, this study revealed that the Japanese government’s reliance on student loans has unexpected consequences. Even following recent reforms, student loan debt continues to be a major financial burden for young Japanese people and is likely to negatively affect family formation in Japan, which has already seen a decline in marriage and fertility rates over the last few decades. Our results call for additional policies to mitigate the negative influence of the Japanese college student aid system.

Hidradenitis Suppurativa: An Understanding of Genetic Factors and Treatment.

Hidradenitis suppurativa (HS), recognized as a chronic and debilitating skin disease, presents significant challenges in both diagnosis and treatment. This review explores the clinical manifestations, genetic landscape, and molecular mechanisms underlying HS. The disease's association with a predisposing genetic background, obesity, smoking, and skin occlusion underscores the complexity of its etiology. Genetic heterogeneity manifests in sporadic, familial, and syndromic forms, with a focus on mutations in the γ-secretase complex genes, particularly NCSTN. The dysregulation of immune mediators, including TNF-α, IL-17, IL-1β, and IL-12/23, plays a crucial role in the chronic inflammatory nature of HS. Recent advancements in genetic research have identified potential therapeutic targets, leading to the development of anti-TNF-α, anti-IL-17, anti-IL-1α, and anti-IL-12/23 therapies and JAK inhibitors. These interventions offer promise in alleviating symptoms and improving the quality of life for HS patients.

Spatial Neurolipidomics at the Single Amyloid-β Plaque Level in Postmortem Human Alzheimer's Disease Brain.

Lipid dysregulations have been critically implicated in Alzheimer's disease (AD) pathology. Chemical analysis of amyloid-β (Aβ) plaque pathology in transgenic AD mouse models has demonstrated alterations in the microenvironment in the direct proximity of Aβ plaque pathology. In mouse studies, differences in lipid patterns linked to structural polymorphism among Aβ pathology, such as diffuse, immature, and mature fibrillary aggregates, have also been reported. To date, no comprehensive analysis of neuronal lipid microenvironment changes in human AD tissue has been performed. Here, for the first time, we leverage matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) through a high-speed and spatial resolution commercial time-of-light instrument, as well as a high-mass-resolution in-house-developed orbitrap system to characterize the lipid microenvironment in postmortem human brain tissue from AD patients carrying Presenilin 1 mutations (PSEN1) that lead to familial forms of AD (fAD). Interrogation of the spatially resolved MSI data on a single Aβ plaque allowed us to verify nearly 40 sphingolipid and phospholipid species from diverse subclasses being enriched and depleted, in relation to the Aβ deposits. This included monosialo-gangliosides (GM), ceramide monohexosides (HexCer), ceramide-1-phosphates (CerP), ceramide phosphoethanolamine conjugates (PE-Cer), sulfatides (ST), as well as phosphatidylinositols (PI), phosphatidylethanolamines (PE), and phosphatidic acid (PA) species (including Lyso-forms). Indeed, many of the sphingolipid species overlap with the species previously seen in transgenic AD mouse models. Interestingly, in comparison to the animal studies, we observed an increased level of localization of PE and PI species containing arachidonic acid (AA). These findings are highly relevant, demonstrating for the first time Aβ plaque pathology-related alteration in the lipid microenvironment in humans. They provide a basis for the development of potential lipid biomarkers for AD characterization and insight into human-specific molecular pathway alterations.

Experiences of Youth in Transition to Adulthood: the Models Developed in Base of Generation and Gender Survey

Understanding the specificities and patterns of transition to adulthood and timing of young adults' milestones is essential for developing targeted and effective social integration policies that address the needs and vulnerabilities of youth subcategories. The aim of the paper is to develop a typology of transition models within the specific context of Moldova by classifying different pathways that young people follow during the transition into adulthood. This study uses the data from Generations and Gender Survey (GGS) conducted in Moldova in 2020. Pathways are derived from key life events that mark the transition to adulthood, retrospectively observed for young people 25-35 years old (N = 2540). To explore the different patterns of transitions Two-Step Cluster analysis was used. This exploratory model is relevant for creating typologies and processing both continuous and categorical variables. The analysis identifies four main clusters of transition to adulthood, showing variations between them. The “complex transition” cluster describes young people who experience a smoother transition to adulthood, characterized by a higher level of education followed by stable employment opportunities, while demographic events such as marriage and parenthood occur later in this group. The “uncertain transition” cluster reflects a degree of instability and uncertainty in terms of employment, many young people, especially men, are employed temporarily or informally, while women in this cluster are often on maternity or childcare leave without being employed. The “precarious transition” cluster represents inactive young people in the labor market, most of them having a low level of education, contributing to their precarious situation on the labor market. The “early transition” cluster suggests a pattern of early transitions into adulthood, often accompanied by limited educational attainment and early family formation.

KONSEP KELUARGA HARMONIS DALAM BINGKAI SAKINAH, MAWADDAH, WARAHMAH

This research aims to identify the concept and form of a harmonious family in Islam in terms of sakinah, mawaddah, warahmah. This research is normative research with a qualitative type of research using descriptive analysis methods. The research results show that a harmonious family can be identified from the criteria of mutual understanding, fostering a sense of love with family members, deliberation within the family, forgiving each other's mistakes, and accepting each other's shortcomings between husband and wife. The manifestation of this harmonious family concept in Islam is known by the terms sakinah, mawaddah, warahmah

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects. While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches. We additionally explored the functional and structural consequences of the identified variant using in silico analyses. NGS did not show any known pathogenic variant in the tested regions. However, a new non-conservative variant in exon 4 of MEN1 gene was found in heterozygosity in the patient and in her daughter, resulting in an amino acid substitution from hydrophobic cysteine to hydrophilic arginine at c.703T > C, p.(Cys235Arg). This variant is absent from populations databases and was never reported in full papers: its characteristics, together with the high specificity of the patient's clinical phenotype, pointed toward a possible causative role. Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas.

Social classes and transition to adulthood in Spain

A research project, “Interconnected Inequalities and Family Life Courses in Spain” (INTERINEQ) headed by Andrés Castro, a researcher at the Centre for Demographic Studies (CED) offers a new look at transition to adulthood and low fertility in Spain. From a quantitative and multivariate perspective, this study identifies six social classes among people aged between 29 and 35 in Spain: one consolidated upper class, three middle classes, and two lower classes. The research shows that plans for having a family and their coming to fruition depend on these social classes and, in particular, on the relative advantages and disadvantages in the middle classes. Relative disadvantages are associated with late emancipation and couple formation, and fewer children than desired. In the lower classes, there are no delayed family formation patterns or fertility gaps.

가족 하기(doing)와 허물기(undoing): 냉전사적 사건으로서 혼혈인의 미국 이주와 초국적 가족 형성, 그리고 수행적 ‘가족 실천’

가족 하기(doing)와 허물기(undoing): 냉전사적 사건으로서 혼혈인의 미국 이주와 초국적 가족 형성, 그리고 수행적 ‘가족 실천’

The Relationship Pattern of Husband and Wife Mualafs in Formation of A Harmonious Family

The Relationship Pattern of Husband and Wife Mualafs in Formation of A Harmonious Family

The multifaceted links between hearing loss and chronic kidney disease.

Hearing loss affects nearly 1.6 billion people and is the third-leading cause of disability worldwide. Chronic kidney disease (CKD) is also a common condition that is associated with adverse clinical outcomes and high health-care costs. From a developmental perspective, the structures responsible for hearing have a common morphogenetic origin with the kidney, and genetic abnormalities that cause familial forms of hearing loss can also lead to kidney disease. On a cellular level, normal kidney and cochlea function both depend on cilial activities at the apical surface, and kidney tubular cells and sensory epithelial cells of the inner ear use similar transport mechanisms to modify luminal fluid. The two organs also share the same collagen IV basement membrane network. Thus, strong developmental and physiological links exist between hearing and kidney function. These theoretical considerations are supported by epidemiological data demonstrating that CKD is associated with a graded and independent excess risk of sensorineural hearing loss. In addition to developmental and physiological links between kidney and cochlear function, hearing loss in patients with CKD may be driven by specific medications or treatments, including haemodialysis. The associations between these two common conditions are not commonly appreciated, yet have important implications for research and clinical practice.

Disciplined parents and autonomous children: information sharing as governing device in Swedish identity-release gamete donation

Abstract This article analyses shifts and continuities in Swedish regulation of information sharing in identity-release donor conception. At a time when families include both solo and same-sex parenting, I draw on a practice-oriented method to compare legal and pre-legislative documents from the early 1980s with those of the late 2010s as developed in a Swedish national context. Following the turn to openness in donor conception, I discuss the practical implications of framing access to information from the hospitals’ so-called ‘special medical record’ as a children’s right, when information is in fact only available after ‘maturity’ is reached. Furthermore, I show how a significant change in the understanding of child–parent relationships in donor-conceived families is articulated in the 2019 legislation. If early policy documents portrayed donor-conceived children as potentially problematic for not ‘knowing their origin’, I argue that now it is parents in donor-conceived families who are constructed as potentially problematic. Drawing on critical kinship theory, I conclude that Swedish policy-making on information sharing in donor conception relies on a symbolic rather than material understanding of genetic relatedness that fails to acknowledge how different family forms might have different needs. Based on these findings, I suggest that policymakers take into account the implications a changing view on family life and genetics have for children and parents following donor conception.

Student psychological well-being in higher education: The role of internal team environment, institutional, friends and family support and academic engagement.

Psychological well-being of students is an area of concern in higher education institutes across the world. Although several studies have explored the factors associated with students' psychological well-being, limited research has focused on the relation between the overall support for students and psychological well-being. Students of higher education may get formal support, in the form of team environment and institutional support; and informal support, in the form of family and friends' support. The purpose of this study is to examine the relation of these four kinds of support with psychological well-being of management students. We also examine the intervening role of academic engagement in this relationship. Analysis using structural equation modeling and hierarchical regression on data collected from 309 management students from Indian universities, shows that positive internal team environment, and institutional and family support positively relate to students' psychological well-being. Academic engagement partially mediates the relation between positive internal team environment and psychological well-being, and family support and psychological well-being. Also, academic engagement fully mediates the relation between institutional support and psychological well-being. The study highlights the significance of internal team environment and institutional support for students' academic engagement and psychological well-being, and the role of academic engagement in determining well-being. Based on these findings, we suggest interventions that can be undertaken by educational institutions to enhance psychological well-being of students. Theoretical implications and research avenues are discussed.

Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment.

Alpha-synuclein (α-Syn) oligomers and fibrils have been shown to augment the aggregation of TAR DNA-binding Protein 43 (TDP-43) monomers invitro, supporting the idea that TDP-43 proteinopathies such as ALS may be modulated by the presence of toxic forms of α-Syn. Recently, parkinsonian features were reported in a study of European patients and Lewy bodies have been demonstrated pathologically in a similar series of patients. Based on these and other considerations, we sought to determine whether seed-competent α-Syn can be identified in spinal fluid of patients with ALS including familial, sporadic, and Guamanian forms of the disease. Based on the finding that α-Syn has been found to be a prion-like protein, we have utilized a validated α-Synuclein seed amplification assay to determine if seed-competent α-Syn could be detected in the spinal fluid of patients with ALS. Toxic species of α-Syn were detected in CSF in 18 of 127 ALS patients, 5 of whom were from Guam. Two out of twenty six samples from patients with C9orf72 variant ALS had positive seed-amplification assays (SAAs). No positive tests were noted in superoxide dismutase type 1 ALS subjects (n = 14). The SAA was negative in 31 control subjects. Our findings suggest that a sub-group of ALS occurs in which self-replicating α-Syn is detectable and likely contributes to its pathogenesis. This finding may have implications for the diagnosis and treatment of this disorder.

A new enhanced mountain gazelle optimizer and artificial neural network for global optimization of mechanical design problems

Abstract Nature-inspired metaheuristic optimization algorithms have many applications and are more often studied than conventional optimization techniques. This article uses the mountain gazelle optimizer, a recently created algorithm, and artificial neural network to optimize mechanical components in relation to vehicle component optimization. The family formation, territory-building, and food-finding strategies of mountain gazelles serve as the major inspirations for the algorithm. In order to optimize various engineering challenges, the base algorithm (MGO) is hybridized with the Nelder–Mead algorithm (HMGO-NM) in the current work. This considered algorithm was applied to solve four different categories, namely automobile, manufacturing, construction, and mechanical engineering optimization tasks. Moreover, the obtained results are compared in terms of statistics with well-known algorithms. The results and findings show the dominance of the studied algorithm over the rest of the optimizers. This being said the HMGO algorithm can be applied to a common range of applications in various industrial and real-world problems.

Emergence of periodic circumferential actin cables from the anisotropic fusion of actin nanoclusters during tubulogenesis

The periodic circumferential cytoskeleton supports various tubular tissues. Radial expansion of the tube lumen causes anisotropic tensile stress, which can be exploited as a geometric cue. However, the molecular machinery linking anisotropy to robust circumferential patterning is poorly understood. Here, we aim to reveal the emergent process of circumferential actin cable formation in a Drosophila tracheal tube. During luminal expansion, sporadic actin nanoclusters emerge and exhibit circumferentially biased motion and fusion. RNAi screening reveals the formin family protein, DAAM, as an essential component responding to tissue anisotropy, and non-muscle myosin II as a component required for nanocluster fusion. An agent-based model simulation suggests that crosslinkers play a crucial role in nanocluster formation and cluster-to-cable transition occurs in response to mechanical anisotropy. Altogether, we propose that an actin nanocluster is an organizational unit that responds to stress in the cortical membrane and builds a higher-order cable structure.

Genome-Wide Studies of FH Family Members in Soybean (Glycine max) and Their Responses under Abiotic Stresses.

Formins or formin homology 2 (FH2) proteins, evolutionarily conserved multi-domain proteins in eukaryotes, serve as pivotal actin organizers, orchestrating the structure and dynamics of the actin cytoskeleton. However, a comprehensive investigation into the formin family and their plausible involvement in abiotic stress remains undocumented in soybean (Glycine max). In the current study, 34 soybean FH (GmFH)family members were discerned, their genomic distribution spanning the twenty chromosomes in a non-uniform pattern. Evolutionary analysis of the FH gene family across plant species delineated five discernible groups (Group I to V) and displayed a closer evolutionary relationship within Glycine soja, Glycine max, and Arabidopsis thaliana. Analysis of the gene structure of GmFH unveiled variable sequence lengths and substantial diversity in conserved motifs. Structural prediction in the promoter regions of GmFH gene suggested a large set of cis-acting elements associated with hormone signaling, plant growth and development, and stress responses. The investigation of the syntenic relationship revealed a greater convergence of GmFH genes with dicots, indicating a close evolutionary affinity. Transcriptome data unveiled distinctive expression patterns of several GmFH genes across diverse plant tissues and developmental stages, underscoring a spatiotemporal regulatory framework governing the transcriptional dynamics of GmFH gene. Gene expression and qRT-PCR analysis identified many GmFH genes with a dynamic pattern in response to abiotic stresses, revealing their potential roles in regulating plant stress adaptation. Additionally, protein interaction analysis highlighted an intricate web of interactions among diverse GmFH proteins. These findings collectively underscore a novel biological function of GmFH proteins in facilitating stress adaptation in soybeans.