Familial Forms Research Articles

Sociological research in the field of family and demography: responding to the challenges of our time

The article analyzes the data of sociological research conducted by the Department of Sociology of Family and Demography of the Faculty of Sociology of Moscow State University named after M.V. Lomonosov, whose employees adhere to the familistic paradigm. The data from these studies are used for social design and forecasting of family and demographic behavior of the bulk of the population, as well as to develop recommendations for improving family and demographic policy aimed at increasing the birth rate and overcoming the crisis of the family as a social institution. Analysis of these data showed that effective policies in the field of family and demography should be aimed not only at changing the attitude towards family life and the birth of children on the part of those people who are now in active reproductive age, but also at creating a positive attitude of adolescents and young people towards based on a strong legal marriage and a close connection between three generations of a family with three or more children. A social atmosphere that encourages the formation and maintenance of families of this type should be considered as a necessary condition for the prosperity of the country.

Family formation and health-related behavior: The case of meal skipping

Using four rounds of nationally representative U.S. panel survey data (NLSY97) and fixed-effects models, this study examines whether and how transitions to marriage/cohabitation/parenthood are associated with gender-specific changes in meal-skipping patterns. Two theoretical perspectives, social control and time scarcity, provide different explanations of how family formation relates to meal skipping. However, empirical research examining the association using a nationally representative sample is scarce. Results indicate that the transitions to romantic relationships (either marriage or cohabitation) are associated with less frequent meal skipping, consistent with social control theory, but in ways that differ by gender. The transition to marriage is associated with reduced meal skipping only for men, whereas the transition to cohabitation is associated with reduced meal skipping to some extent for women. The transition to parenthood has distinctive consequences for women’s meal patterns. Specifically, having two or more children at home is associated with increased meal skipping only for women, which can be explained by the time scarcity perspective. This study reveals that the consequences of family formation on health-related behaviors are gender specific and not universally positive, highlighting women’s persistent role as the primary caregiver for the family.

Durable despite tension: Adult sibling relationships within family figurations

This article analyses adults’ experiences of sibling relationships in the context of the network of family and kin relations – namely, family figurations. In sociological research, there has been growing interest in qualitatively investigating siblings, a theme that was long overshadowed by the interest in intergenerational ties. This study contributes to the discussion on adult sibling relationships as significant and interconnected with other family relationships in individuals’ lives. Drawing upon Elias’ concept of figuration and Smart’s concept of the embeddedness of family relationships, I examine how sibling relationships are experienced in the life stage of family formation. Analysing 32 research interviews with women and men from 16 couples, the article shows three distinct dynamics of how sibling relationships are connected to family figuration. The study contributes to our understanding of how sibling relationships are experienced and lived as embedded within other family relationships. Furthermore, it demonstrates how figuration and embeddedness, two central concepts in family sociology, can be brought together to understand personal relationships in contemporary society.

RECONHECIMENTO DA FILIAÇÃO SOCIOAFETIVA PELA VIA EXTRAJUDICIAL E A INFLUÊNCIA NAS NOVAS FORMAS DE FAMÍLIA

The research will address the recognition of socio-affective filiation through extrajudicial means and its influence on new family forms. The general objective of this study is to analyze the impact of the extrajudicial recognition of socio-affective filiation on new family configurations, focusing on legal and social issues. Specifically, it seeks to: discuss the evolution of the concept of filiation in the Brazilian legal system; evaluate the implications of Provision No. 63/2017 of the CNJ in the formalization of parental bonds; and investigate the possible conflicts and challenges related to multi-parenthood and the rights of those involved in this process. The central problem that guides this research is to understand how the extrajudicial recognition of socio-affective filiation, established by Provision No. 63/2017, influences new family forms in Brazil. Therefore, the recognition of socio-affective filiation through extrajudicial means, in addition to being a milestone in the adaptation of the Law to social changes, reinforces the importance of continuing to reflect on the challenges and implications of this innovation in the legal system and in contemporary family relationships. The research is bibliographical, using articles, doctrine and legislation on the subject as sources.

P34 A case of haemophagocytic lymphohistiocytosis triggered by primary Epstein–Barr virus infection

Abstract Introduction Haemophagocytic lymphohistiocytosis (HLH) is an uncommon systemic hyperinflammatory state characterised by uncontrolled activation of the immune system. HLH may occur in a primary (familial) form, but more commonly occurs secondary to another disease process. Such triggers include infections, autoimmune disease and malignancy. We present the case of a 24-year-old female who was previously fit and well, who was diagnosed with HLH secondary to primary Epstein-Barr virus (EBV) infection. Case description The patient was admitted with a 10-day history of fever, sore throat and abdominal pain. On examination she had bibasal crackles and epigastric and right upper quadrant tenderness. There was pharyngeal erythema but no exudate. No rash or joint inflammation. Admission blood tests showed WBC 11.7 x109/L, neutrophils 6.5 x109/L, lymphocytes 4.3 x109/L, platelets 142 x109/L, CRP 179 mg/L, ALT 330 U/L, ALP 1022 U/L, bilirubin 37 mmol/L and lactate 1.81 mmol/L. A CT chest/abdomen/pelvis showed bibasal consolidation with small bilateral pleural effusions and mild splenomegaly. The patient was hypotensive and tachycardic, and was spiking temperatures greater than 39 °C. She subsequently developed type 1 respiratory failure and was transferred to the intensive care unit. She was treated with broad-spectrum antibiotics for suspected sepsis secondary to pneumonia. She remained unwell with high spiking fevers. HLH was suspected and ferritin was >100,000 mg/L with triglycerides 6.19 mmol/L, fibrinogen 1.1 g/L and LDH >1800 U/L. Her HScore was 200, indicating a high probability of HLH. Autoimmune screen including rheumatoid factor, ANCA and ANA were negative. A comprehensive infection screen identified a strongly positive EBV viral capsid antigen (VCA) IgM, positive EBV VCA IgG and negative EBV nuclear antigen (EBNA) with a viral load of 49,600 copies/ml. These results were consistent with acute primary EBV infection. Bone marrow biopsy confirmed haemophagocytosis. A diagnosis of HLH triggered by primary EBV infection was made. The patient was discussed with the specialist HLH service at University College Hospital and was commenced on intravenous methylprednisolone and anakinra 200 mg twice daily. She was additionally given antivirals, antibiotics and antifungals as prophylaxis against secondary infection. The patient improved clinically and biochemically. The dose of anakinra was reduced and eventually discontinued, and the patient was discharged on a tapering course of prednisolone. Discussion HLH carries a high mortality rate and early recognition and treatment is vital. However, diagnosis is often delayed as HLH may resemble other conditions such as sepsis. Signs and symptoms of HLH include fever, hepatosplenomegaly, cytopenias, hyperferritinaemia, hypertriglyceridaemia, liver dysfunction and coagulopathy. There may be multi-organ dysfunction. The characteristic histopathological finding is haemophagocytosis on biopsy of bone marrow, lymph node, liver or spleen, however this may initially be absent. EBV is the most common infective trigger for HLH, but it may occur with other viral and bacterial infections including tuberculosis. The most common autoimmune conditions associated with HLH include adult-onset Still’s disease (AOSD), systemic juvenile idiopathic arthritis and lupus. Haematological malignancy, in particular lymphoma, is another important cause and can sometimes be challenging to identify. The initial presentation of AOSD can share many of the same clinical features as EBV infection, including fever, rash, sore throat, hepatosplenomegaly, lymphadenopathy and liver dysfunction. The rash of AOSD is classically salmon-pink coloured and comes and goes with the fever, and the fever typically occurs at the same time each day. In our patient, the absence of arthralgia, rash and leucocytosis meant AOSD was felt to be unlikely, but this was kept under review. Key learning points • Early recognition and treatment of HLH is crucial to reducing mortality • The HScore tool can be used to assess the probability of HLH • Management of HLH involves supportive care, immunosuppression and treatment of the underlying cause • Agents that may be used include steroids, cyclosporine, etoposide, anakinra and intravenous immunoglobulin

Cell biology: A new twist in the formin tail

In many eukaryotic lineages, the RHO clade of small GTPases controls microfilament dynamics by direct binding to formin family actin nucleators. A new study in plants reveals that formin activity can also be regulated by a RHO cofactor rather than the GTPase itself.

НАПРАВЛЕНИЯ ОБЕСПЕЧЕНИЯ ЭФФЕКТИВНОЙ ДЕЯТЕЛЬНОСТИ СЕМЕЙНЫХ ФОРМ АГРАРНОГО ПРОИЗВОДСТВА

In modern conditions, the issues of ensuring the effective functioning of small forms of economic activity are of great importance for the effective functioning of rural areas in social and economic and administrative aspects. In this regard, there is a need to substantiate effective models of economic activity for family forms of agricultural production. These issues are especially relevant for new regions of the Russian Federation. In the course of the study, it was established that peasant farms of Zaporozhye region, included in the cooperative, are differentiated by commodity. Representatives of the commodity group are the least numerous, but they use more than 50% of the total area of agricultural land. In order to improve the efficiency of using the resource potential, increase the number of commodity-type farms and improve the level of well-being of their members, it was proposed to optimize the structure of land use. The proposed land use structure is as follows: cherries - 48%, apricots - 15%, other fruits - 7%, potatoes - 21%, tomatoes - 5%, other crops - 4% of the total volume of agricultural land. Practical implementation of the proposed recommendations will reduce labor costs by 32.7%, but at the same time financial costs increase by 71.4%. Reducing the labor intensity of agricultural production increases the attractiveness of this model for family forms of farming. According to the research results, an increase in the conditional level of profitability by 269 points, as well as the level of family income by 16.2% is noted, which proves the social effect of the implementation of this project for residents of rural areas. A scientifically substantiated model of mutually beneficial cooperation of family forms of agricultural production is an incentive for their participation in the activities of cooperative integration entities.

Position statement of Polish Cardiac Society experts on cardiomyopathy.

Cardiomyopathies (CMs) are a very broad group of diseases, including genetically determined and acquired, and their classification is based on phenotypic characteristics. There is always a need to search for the etiology (often also to try to identify the genetic cause), which may determine the appropriate choice of clinical management. The geographical distribution of genetic variants varies as does the prevalence across populations, ethnic groups, regions, and countries. The most reliable data on the distribution of individual genetic variants come from developed countries. The phenotypic classification includes 5 main types of CM, i.e., dilated CM, hypertrophic, restrictive, arrhythmogenic right ventricular CM, and non-dilated left ventricular (LV) CM. Individual CMs are characterized by a variety of causes and different phenotypic pictures, which affect their presentation, diagnosis, and response to treatment. Within each type of CM, there are both familial and sporadic (acquired) forms. The complex presentation of CM, as well as the limited availability of screening and diagnostic tests, causes CMs to be diagnosed late, often at an advanced stage of the disease. Therapeutic management of CM is strictly determined by its type and clinical picture. Diagnostics include the assessment of symptoms, the results of imaging and genetic tests, as well as morphological, functional, and often histological assessment. This allows for personalized and dedicated clinical management. To optimize thediagnosis, treatment, and care of patients with CMs, an individualized, expert, systemic, coordinated, and often multidisciplinary structure of care is necessary. Hence, it is important to create multidisciplinary teams for CM management. We present examples of existing systemic solutions for the care of CM patients in Europe (France and Spain). Not all of these options are available to patients in our country. This article presents issues related to CM and may be the basis for developing a diagnostic and therapeutic model allowing for earlier detection of CM in Polish patients and their effective treatment.

“Unachievable adulthood?!” – exploring family formation journeys of care leavers in China

ABSTRACT This study examines the family formation journeys of care leavers in China, focusing on how they plan, navigate, and face challenges during this process. Using convenience and snowball sampling, 19 participants (16 care leavers, 3 care stayers) were interviewed. Thematic analysis identified three family pathways: (i) acquaintance-matched, (ii) self-matched, and (iii) marriage “on the way”. The findings reveal ongoing social exclusion and obstacles to family formation, particularly for male care leavers, due to financial pressures, discrimination, and trauma. The study highlights the need for targeted support and social change to improve outcomes for care leavers in China.

Patriarchy in the Heritage of Bima Muslim Society: A Correlation between the Quran, Human Rights and Customs

The Quran and Human Rights in general do not recognize the term patriarchy, either in the family system, roles or inheritance distribution specifically. But in the construction of human culture, classifying family forms, roles and inheritance divisions in the form of patriarchy. The division of inheritance in Islam is bilateral, in line with the Quran and human rights. However, the practice that occurs in Bima Muslim society is patriarchal, where inheritance takes precedence for men so that it is contrary to the Qur'anic commandments and human rights which have the purpose and principle of no discrimination between men and women. The practice according to the Bima Muslim community has been based on the Quran and is accustomed for generations to the next generation. This socio-legal research is conducted using qualitative methodology, and data analysis is done through critical analysis. This article significantly concludes that the pattern of inheritance distribution in Bima Muslim society is a patriarchal model. This practice violates the provisions of the Quran and the nawacita of human rights. Therefore, it is recommended that there should be socialization related to the rules of distribution of Islamic inheritance to the Bima Muslim community so that it is not understood based on the mindset of the community.

Relocate the base of the Arundian? A re-evaluation from south Cumbrian sections and implications for British and Irish Lower Carboniferous successions

The largely ice-free world of the ‘Chadian’–Arundian (early Visean) is investigated in two successions in south Cumbria to better understand the relationships between transgression, hiatus and the position of the basal Arundian. A detailed foraminiferal biostratigraphy is used to age-constrain the transition from the late ‘Chadian’ to early Arundian. This demonstrates a good synchronous relationship between the sequence stratigraphy of the two successions and the first occurrence of key species (mostly primitive archaediscids, rapidly followed by more evolved forms of the same family), suggesting that there is no significant hiatus and that the record of faunal changes is closely comparable in the key successions. A synthesis of other ‘Chadian’–Arundian boundary successions in Britain and Ireland indicates some key problems with the current Arundian boundary stratotype in practical usage. We propose a stratigraphically higher position for the Arundian boundary in the stratotype, which is more easily correlated to the Bobrikian and Moliniacian substages of eastern Europe and Belgium, respectively, and tied to the first occurrences of foraminifera species, allowing more robust age assessments, free from the confounding factors of inferred lithological or sequence stratigraphic changes.

Mammalian Diaphanous-related formin 1 (mDia1) inducing diabetic cardiomyopathy by regulating metabolic reprogramming

Abstract Background Mammalian Diaphanous-related formin 1 (mDia1) is one of the formin family proteins and acts as a rho-effector molecule which is involved in actin organization. Previous studies showed that mDia1 aggravated compensatory cardiac hypertrophy in response to pressure overload. However, the role of mDia1 in diabetic cardiomyopathy and its mechanisms remain elusive. Objective To clarify the mechanisms of mDia1 in DCM through mediating metabolic reprogramming. Methods 5-week-old of mDia1 ko mice were used to induce DCM by feeding high-fat diet (HFD) for 16 weeks. The blood glucose and body weight of the mice were measured regularly. Echocardiography was used to evaluate cardiac function. HE and WGA staining were used to evaluate hypertrophy of cardiomyocytes. Transmission electron microscopy and mitotracker staining were used to observe the morphology of mitochondrial in heart. Proteomics and metabolomics were used to explore the metabolites in hearts of mice. Primary neonatal cardiomyocytes were isolated and stimulated with 35 mM glucose and 250 μM palmitate in vitro. Adenovirus expressing shRNA of mDia1 was used to knockdown mDia1 in cardiomyocytes. Mitochondria were isolated from primary cardiomyocytes to verify the translocation of mDia1. Co-Immunoprecipitation was used to confirm the interaction between mDia1 with succinate dehydrogenase subunits A (SDHA). Results mDia1 had no effects to blood glucose and body weight after 16-week HFD feeding. Loss of mDia1 ameliorated diastolic dysfunction in DCM mice with shorter isovolumic relaxation time (IVRT) and increased E/A ratio in left ventricular. In addition, cardiac hypertrophy was significantly improved in mDia1 ko mice. mDia1 deficiency tended to maintain the normal mitochondrial structure. Results of proteomics showed that mDia1 was involved in mitochondrial function, ATP synthesis and metabolic pathways. Metabolomics showed that HFD induced accumulation of α-ketoglutaric acid in wild type mice compared with mDia1 ko mice. However, mDia1 ko significantly increased fumaric acid but did not affect succinyl-CoA and succinic acid compared with wild type mice. Furthermore，we found that mDia1 translocated into mitochondrial with high glucose and palmitate stimuli. Results of CoIP showed mDia1 interacted with SDHA both in cardiomyocytes and HEK293 cells. Conclusions mDia1 deteriorated DCM through translocating into mitochondrial and interacting with SDHA, a process dependent on metabolic pathways.Figure of Mechanism

Utility of polygenic risk score for prediction of dilated cardiomyopathy and modulation of severity of LV dysfunction among cases

Abstract Background Dilated cardiomyopathy (DCM) is a predominant cause of heart failure and a leading indication for cardiac transplantation. While rare genetic variants are established as causative factors in familial forms of the disease, recent genome-wide association studies (GWAS) have also underscored the significant contribution of common genetic variation to DCM. Polygenic scores (PGS) constructed from GWAS have demonstrated promise in risk stratification for a range of common diseases and may similarly have value for risk prediction in DCM. However, data regarding the clinical utility of PGS in DCM remains sparse. Purpose We aimed to evaluate the utility of PGS for prediction of DCM and its association with left ventricular ejection fraction (LVEF) and family history. We further aimed to assess the contribution of PGS in DCM patients with established causative rare variants (genotype-positive) and those without (genotype-negative). Methods We used a previously-constructed PGS, which was developed from a GWAS meta-analysis (8387 DCM cases and 939161 controls) and multi-trait analysis (MTAG) with cardiac MRI traits. In the present analysis, we calculated PGS for a newly assembled cohort of 978 DCM cases from a major university medical centre and 7207 controls from a national register. To evaluate the clinical utility of PGS, we built logistic regression models and assessed the association between PGS and DCM status. Subsequently, we performed subgroup analyses, including: i) individuals of European ancestry, ii) non-European ancestry, iii) males, iv) females, v) genotype-positive participants(n=193), and vi) genotype-negative participants (n=294). We then used linear and logistic regression models, respectively, to assess the associations of PGS with LVEF and documented family history of DCM. Results PGS demonstrated a significant enrichment among DCM cases compared to controls (OR per SD 1.93, P = 9.47E-68). This association persisted with consistent effect estimates - ranging from OR 1.5 to 2.2 - across all examined subgroups and demonstrated sufficient statistical significance (all P<1.58E-06) (Figure 1). Genotype-negative cases had a significantly higher PGS compared to genotype-positive individuals (P = 0.0015), although PGS was significantly enriched in both groups as compared to controls. Furthermore, among DCM cases, higher PGS was significantly associated with lower LVEF at first presentation (P=0.03, beta=-0.5% per SD) (Figure 2). There was no significant association found between PGS and family history. Conclusions PGS is strongly associated with risk of DCM, and may modulate the severity of LV dysfunction among DCM cases. Polygenic burden contributes to DCM risk in both genotype-positive and negative cases, although the contribution is stronger in patients without known causative rare variants. Overall, our results suggest a potential clinical applicability for PGS in DCM risk stratification.Figure 1.Association of PGS with DCMFigure 2.Association of PGS with LVEF

A ADOÇÃO POR CASAIS HOMOAFETIVOS SOB A PERSPECTIVA DO DIREITO DE FAMÍLIA

Adoption by same-sex couples, from the perspective of Family Law, represents a significant advancement in equality of rights and recognition of diverse family forms. In many countries, Family Law has evolved to include same-sex couples in the adoption process, allowing them to form families and secure rights similar to those of heterosexual couples. Historically, same-sex couples have faced legal and social barriers to adopting children. However, case law and legislation have advanced, reflecting greater acceptance and understanding of same- sex relationships. For instance, Brazil’s Supreme Federal Court has ruled favorably on adoption by samesex couples, recognizing the validity of these unions and ensuring they can legally form a family. The decision to allow adoption by same-sex couples is based on the principle that the child's best interest should prevail. The ability to provide a loving and stable environment is considered more important than the adoptive parents' sexual orientation. Studies have shown that children adopted by same-sex couples develop as healthily as those adopted by heterosexual couples. Furthermore, legal recognition of adoption by same-sex couples contributes to the protection of children’s rights, ensuring they have access to all legal and social benefits provided by law.

Molecular mechanisms underlying amyloid beta peptide mediated upregulation of vascular cell adhesion molecule-1 in Alzheimer's disease.

Amyloid beta (Aβ) deposition and neurofibrillary tangles are widely considered as the primary pathological hallmarks of familial and sporadic forms of Alzheimer's disease (AD). However, cerebrovascular inflammation, which is prevalent in 70% of AD patients is emerging as another core feature of AD pathology. In addition, activation of inflammatory signaling pathways have been observed in AD patients; specifically, cerebrovascular inflammation was found to be augmented in Alzheimer's patients. Our studies have demonstrated that the inflammation signaling pathway is upregulated in AD patient brains. Moreover, vascular cell adhesion molecule-1 (VCAM-1), a cerebrovascular inflammatory marker expressed on the blood-brain barrier (BBB) endothelium, was observed to be upregulated in APP,PS1 mice (a mouse model that overexpresses Ab42), as detected by dynamic SPEC/CT imaging. While there is a strong association between Aβ42 exposure and an increase in VCAM-1 expression, the mechanisms underlying the influence of Aβ42 on VCAM-1 expression remain understudied. Therefore, we investigated the hypothesis that Ab42 exposure increases VCAM-1 expression in human cerebral microvascular endothelial cell (hCMEC/D3) monolayers. In addition, reverse phase protein array assays (RPPA) and immunocytochemistry demonstrated that Ab42 increases VCAM-1 expression through the Src/p38/MEK signaling pathway specifically within the blood-brain barrier (BBB) endothelium. In summary, these results demonstrate that Ab42 augments cerebrovascular inflammation by elevating VCAM-1 expression via Src/MEK/p38 pathway. Hence, targeting VCAM-1 at the BBB as a diagnostic and therapeutic marker may hold potential for detecting and mitigating cerebrovascular inflammation in Alzheimer's disease. Significance Statement While considered a core pathological feature of Alzheimer's disease, molecular pathways leading to cerebrovascular inflammation remain partially understood. Moreover, clinical diagnostic methods for detecting cerebrovascular inflammation are underdeveloped. In this study, we demonstrated VCAM-1 detection using radio-iodinated VCAM-1 antibody and SPECT/CT imaging. The study demonstrated that the exposure to Aβ42 increases VCAM-1 expression on the BBB endothelium via Src/p38/MEK pathway. These findings are expected to aid in the development of diagnostic and therapeutic approaches for addressing cerebrovascular inflammation in AD.

Forms of the Mother Right: Marxism's Matriarchal Origins from Friedrich Engels to Lu Märten

AbstractThe nineteenth‐century discovery of the matrilineal origins of society shattered assumptions about the necessity of the bourgeois family. For Marxists, ethnographic studies of the mother right provided an aesthetic form to reevaluate the “woman question” from a scientific perspective. Although Marx and Engels had long rejected the idea of the family in favor of “family forms,” Engels's adaptation of Morgan's Ancient Society (1877) in Der Ursprung der Familie, des Privateigentums und des Staats (1884) was canonized as the authoritative Marxist text on the subject. While the ethnographic form enabled the denaturalization of the family, its racialized and gendered temporality undercut socialist critiques of social forms. This article introduces Lu Märten's queer utopian response to the mother right, Geschichte der Frau vom Mutterrecht bis zur Gegenwart (1947), which dispenses with the evolutionary structure of the ethnographic study to offer a vision of polyamorous and androgynous forms in a classless society.

Genetic diversity and structure of Persicaria amphibia (Polygonaceae) in South Korea using genotyping by sequencing.

Persicaria amphibia, a member of the Polygonaceae family, exists both aquatic and terrestrial forms. It is native to North America, Asia, Europe, and some parts of Africa. This study aimed to determine the genetic diversity within and among populations of P. amphibia and the distribution characteristics of each population to investigate insights into the genetic structure and conservation of P. amphibia. In this study, the genetic diversity and structure of 84 P. amphibia individuals from 7 populations in South Korea were analyzed using genotyping-by-sequencing (GBS). We used 2,469 single nucleotide polymorphisms (SNPs) to analyze genetic diversity, principal components, structure, and phylogeny. Our results showed a mean observed heterozygosity and mean expected heterozygosity of 0.34409 and 0.34082, respectively. Genetic diversity analysis indicated that the variation among populations (60.08%) was greater than that within populations (39.92%). Fixation index values, principal components analysis, structure, and phylogeny analyses showed that the population in Gyodongdo, Ganghwa Island was highly different. These results provide important insights for better understand the population history and genetic structure of P. amphibia.

The Genetics of Chiari 1 Malformation.

Chiari malformation type 1 (CM1) is a structural defect that involves the herniation of the cerebellar tonsils through the foramen magnum, causing mild to severe neurological symptoms. Little is known about the molecular and developmental mechanisms leading to its pathogenesis, prompting current efforts to elucidate genetic drivers. Inherited genetic disorders are reported in 2-3% of CM1 patients; however, CM1, including familial forms, is predominantly non-syndromic. Recent work has focused on identifying CM1-asscoiated variants through the study of both familial cases and de novo mutations using exome sequencing. This article aims to review the current understanding of the genetics of CM1. We discuss three broad classes of CM1 based on anatomy and link them with genetic lesions, including posterior fossa-linked, macrocephaly-linked, and connective tissue disorder-linked CM1. Although the genetics of CM1 are only beginning to be understood, we anticipate that additional studies with diverse patient populations, tissue types, and profiling technologies will reveal new insights in the coming years.

Distribution and determinants of early marriage and motherhood: a multilevel and geospatial analysis of 707 districts in India

BackgroundEarly marriage and motherhood have long been prevalent in India, with 44.5% of women aged 20–24 reporting marriage before 18 in NFHS 3 (2005–2006), dropping to 26.8% in NFHS 4 (2015–2016). Early motherhood has also seen a significant decline, with first births by age 18 decreasing from 34.3% in NFHS I to 8.2% in NFHS V. Despite these improvements, significant regional disparities persist due to social, normative, and legal factors. This study investigates the spatial heterogeneity of early marriage and motherhood across Indian districts, offering a multilevel analysis that reveals critical local variations often obscured at broader levels. Understanding these patterns is crucial for targeted policy interventions and addressing the root causes of early marriage and motherhood.MethodsUtilizing data from the fifth round of National Family Health Survey, this study employs multilevel logistic regression and geospatial analysis to assess the determinants and spatial distribution of early marriage and early motherhood among ever-married women in India. The analysis incorporates individual, household, and community-level variables, complemented by spatial analysis techniques, including Empirical Bayes Bivariate Moran’s I values and LISA cluster maps, to identify regional patterns and hotspots.ResultsThis study revealed that educational attainment emerged as a critical determinant, with uneducated women significantly more likely to marry early. Socioeconomic factors, such as poverty and limited mass media exposure, also heightened the risk of early marriage and motherhood. Caste and religion were significantly associated with these events, with marginalized groups facing higher prevalence. Spatial analysis revealed significant geographic disparities, with central and eastern regions showing higher concentrations of early marriage and motherhood. District-level characteristics and the influence of neighboring districts were also significant, highlighting the importance of localized interventions.ConclusionsThe findings underscore the critical role of education, economic empowerment, and media literacy in mitigating early marriage and motherhood risks. The study calls for multi-sectoral interventions in geographical hotspots to break the cycle of early family formation and promote reproductive health. Policies enhancing educational opportunities, addressing economic disadvantages, and considering district-specific factors are essential. Comprehensive strategies are necessary to empower women, foster reproductive health, and address the multifaceted nature of early marriage and motherhood in India.

Reproductive behavior of youth: theory and key factors

The reproductive behavior concept has been considered, which is the key to personal behavior formation in the context of childbirth and family formation. The analysis of approaches to reproductive behavior has been carried out, due to which main factors influencing reproductive behavior patterns formation have been highlighted. Material provision, the possibility to give children quality education and decent living conditions, the place of family and children in the system of values, as well as cultural norms in the complex influence behavior development in relation to family planning and childbirth. Currently, there is a problem of combining parenthood and the image of a successful careerist, so there is competition between the value aspects. The value of family and parenthood remains high, while the need for children decreases. In addition, psychological motives for having children prevail over economic and social ones. The topic of reproductive letting down contains many sides that need to be subjected to analysis. The difficulty lies in the fact that not only we operate with actual objective data, but also deal with personal and psychological characteristics, which complicates the analysis procedure, so it is necessary to further study the issue.