Italian Family Research Articles

Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome

BackgroundPolycystic ovary syndrome (PCOS) is a complex heterogenous disorder manifesting with various reproductive, endocrine, and metabolic derangements such as insulin resistance and hyperglycemia. The arginine vasopressin peptide (AVP), also called or antidiuretic hormone (ADH), modulates metabolic functions such as glucose hemostasis, insulin sensitivity, and lipid metabolism via binding to two central and peripheral receptors (AVPR1A and AVPR1B). In the present study, we aimed to detect whether the AVPR1A and AVPR1B genes confer risk for PCOS.MethodsIn peninsular Italian families, we tested 7 variants in the AVPR1B gene and 2 variants in the AVPR1A gene via Pseudomarker for linkage and linkage joint to association (i.e.., linkage disequilibrium) with PCOS.ResultsWe identified two risk variants in each gene, significantly associated with the risk of PCOS.ConclusionTo the best of our knowledge, this is the first study to report risk variants in AVPR1A and AVPR1B genes in association with PCOS. However, replication in other ethnic groups as well as functional studies are needed to confirm these results.

What’s in a Name? Children’s Rights and Legal Voice within Administrative and Juridical Procedures of Recognition of Same-Sex Filiation

This performative text, consisting of writing and visualizations, explores children’s voices within court proceedings connected to the legal recognition of intended mothers within lesbian-parented families. The research used long-term ethnographic observations and biographical interviews focused on French and Italian families from the “activist generation” who devoted their efforts to obtaining reproductive and family rights. The article provides a critical account of the implementation of Article 12.2 of the United Nations Convention on the Rights of the Child 1989 (UNCRC)—that is the right to be listened to in judicial and administrative proceedings affecting children. Our main argument is that, in contrast to the intention of Article 12.2 of the UNCRC, children are given a more symbolic than substantial voice in court proceedings and administrative procedures. The text situates children’s voices both in the wider context and in everyday life. Drawing on ethnographic research data, we show where and to what extent children’s voices emerge or, on the contrary, are silenced. Keywords: same-sex parenting; filiation; children’s rights; ethnography; creative writing; visual methods; performative text; Euro-American kinship; Italy; France.

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Alport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though therapies targeting Renin-Angiotensin System can delay its progression. Additionally, extrarenal manifestations may sometimes coexist. Recent advances in genetic analysis and the necessity to better clarify genotype-phenotype correlations in affected patients raises the importance of detecting even cryptic splicing variants, lying in both canonical and non-canonical splice sites variants such as last exonic nucleotide variants. These variants, often, do not cause an amino acid change but alter the snRNP proteins binding. We studied a big Italian family with Alport syndrome showing a clear dominant pattern of transmission with younger family members having only haematuria and older individuals presenting with End-Stage Kidney Failure (ESKF). Kidney biopsy showed the typical disease hallmarks. We deeply mined the data for SNV and CNV through exome sequencing on DNA from both peripheral blood samples and patients' podocytes-lineage cells. We identified an already reported synonymous variant, c.765G>A (p.(Thr255Thr)), in the last exonic nucleotide of exon 13 of the COL4A3 gene. Employing the patient's podocytes we demonstrated that this variant results in exon skipping leading to an in-frame deletion of 28 amino acids without leaky effect. According to the pattern of transmission, to the kidney biopsy and to the exome data analysis we provided further evidence that autosomal dominant Alport syndrome is a well-defined clinical entity. We also confirmed the pathogenicity of the synonymous COL4A3 variant for the first time demonstrating its role in a dominant pattern of transmission.

What use of proceeds do family IPOs signal? The influence of family generational stage and family CEO

PurposeThis study aims to investigate the relationship between the family generational stage and the intended use of the Initial Public Offering (IPO) proceeds disclosed in the prospectus. With the aim to explore family business (FB) heterogeneity, it also explores the moderating role of the family CEO.Design/methodology/approachWe draw on signalling theory and hand-collected data on Italian family IPOs that occurred in the period 2000–2020, disentangling the intended use of IPO proceeds as distinguished into three categories. We employ logit regression to test our hypotheses.FindingsAccording to our theoretical predictions, we find that the family generational stage positively affects the disclosure of the investment reason as the intended use of IPO proceeds, while it negatively influences the use for recapitalization and general corporate purposes. The first relationship is moderated by the presence of a family CEO. Our results remain robust with different FBs definitions and a different empirical method.Originality/valueTo the best of the authors’ knowledge, this paper is the first to address the topic of the intended use of IPO proceeds in FBs. In doing so, it opens avenues for future research by enriching an underdeveloped, albeit growing, area of research, that of preparing for the market scrutiny in family IPOs.

Gender inequality in intergenerational contact after parental separation in the digital era

AbstractObjectiveThe goal of this brief report is to analyze parent‐adult child contact frequency in intact and non‐intact families by focusing on parent and child gender and the type of contact.BackgroundParental separation increases gender differences in parent–child relationships, with separated fathers having less frequent contact with their adult children compared to separated mothers. We investigate whether the father–mother gap in post‐separation contact varies according to parent–child gender mismatch and the type of contact, that is, face‐to‐face, phone, or digital (e.g., via video calls).MethodWe use data on Italian families from the Family and Social Subjects survey to examine parent–child contact frequency among 6770 adult children aged 30–55 (11,041 parent–child dyads). We estimate random and fixed effects models on the probability of having frequent contact with biological parents in intact and non‐intact families (parental separation before age 18).ResultsFathers' reduced contact frequency compared to mothers is particularly evident with daughters, more pronounced in face‐to‐face and phone contact than in digital contact, and greater among younger daughters at the time of separation. Gender differences in phone and digital contact are larger for fathers who have also less frequent face‐to‐face contact compared to mothers.ConclusionWe interpret these findings by focusing on the centrality of mother–daughter ties and the loyalty that children have with the same‐gender parent. We also suggest that different types of contact reinforce gender differences between parents and may lead to a polarization of older parents with “strong” and “weak” family ties.

Taking shared parenting seriously: a comparative study of how family policies accommodate shared physical custody in post-separation households

Shared physical custody (SPC) is a care arrangement following parental separation, whereby children alternatively reside with their mother and father. Very little is known about how family policies accommodate SPC, which is all the more unfortunate, as it represents a key opportunity to understand how family policies can efficiently facilitate shared parenting. To address this gap, this article presents a modest attempt at designing a new comparative family policy approach that considers SPC arrangements, by examining the extent to which Belgian, French and Italian family policies accommodate a more equal sharing of parenting post-divorce. In so doing, we encourage studies of defamilialization to take better account of the diversity of contemporary family forms. The theoretical section traces back key feminist debates around defamilialization and proposes to consider SPC arrangements as an ‘atypical’ family configuration that best illustrates contemporary tensions around defamilialization and gender equality. It also takes stock of the few studies of family policy and SPC to highlight key issues at stake. The analysis section starts with the main characteristics of the family law, welfare regime and family policies of the three countries. Then, we examine a selection of emblematic and national-level family policies from the following areas: (1) Family benefits; (2) Financial support to access to services; and (3) Tax measures. Our comparison focuses on three main criteria: scope; entitlement; and shareability of benefits between parents in the context of SPC. Our analysis reveals the variety of approaches to SPC in family polices across countries and policy areas, and the significant lack of support for a more equitable distribution of parenting within SPC. We conclude by highlighting the usefulness of taking SPC into account in reflecting on and evaluating the implementation of defamilialization policies, and by identifying some of the challenges to be met by future research.

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses of central vision. To investigate this apparently autosomal dominant pedigree, next generation sequencing (NGS) of a custom panel of RP-related genes was performed, further enhanced by bioinformatic detection of copy-number variations (CNVs). Unexpectedly, all patients had a compound heterozygosity involving two known pathogenic EYS variants i.e., the exon 33 frameshift mutation c.6714delT and the exon 29 deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del, with the exception of the youngest son who was homozygous for the above-detailed frameshift mutation. No pathologic eye conditions were instead observed in the proband’s husband, who was a heterozygous healthy carrier of the same c.6714delT variant in exon 33 of EYS gene. These findings provide evidence that pseudodominant pattern of inheritance can hide an autosomal recessive RP partially or totally due to CNVs, recommending CNVs study in those pedigrees which remain genetically unsolved after the completion of NGS or whole exome sequencing analysis.

Dual mastering and labour exploitation: Life and work stories of Romanian women in home care in Italy from Romania

The study analyses the dual nature of mastering in the specific context of home care with reference to Romanian women employed in Italian families through life stories collected in Italy and Romania. This duality stems from the overlap between personal and work time in the home environment. The surveillance of Romanian domestic workers by the employers are combined with prejudices and sometimes sexual urges, expressed through verbal and non-verbal language, to define a coercive and segregating way of life and work, with consequences for workers in terms of exploitation, mental health and dependence on the employers' needs, even to the extent of defining specific workers'transnational relationships with the family of origin and its social network. The processes of dehumanisation and exploitation will be analysed by interviewing women who have worked in care of Romanian nationalities and who have lived or still live in Italy. The analysis of the concept of dor, a Romanian word meaning the longing for what one has left behind and the yearning for what one will no longer find, leads to the formulation of a hypothesis while considering Romanian women employed in Italy in the ethnicized labour market: their being considered as less ‘immigrant'. In other words, as European care givers' flows are not well controlled, it creates more favorable conditions for irregular work. This is a condition of masking or hiding persistent conditions of marginality and subordination.

Does family power drive the size transition of entrepreneurial family firms? A study on the growth of Italian manufacturing firms

PurposeThis paper explores the drivers and inhibitors of the transition of entrepreneurial family firms from small to large firms. We adopt two contrasting theoretical perspectives, i.e. agency and stewardship, to explore the effects of family power on size transition.Design/methodology/approachWe adopted an original research design that leverages a unique longitudinal database built starting from the list of the 500 best Italian manufacturing family firms published by the AUB Monitor in 2018. Specifically, we tested our hypotheses using a comprehensive set of financial and governance data from 89 Italian manufacturing family firms covering a 10-year period. To test our hypotheses, we conducted a survival analysis using a Cox regression.FindingsWe find an inverted U-shaped relationship between family involvement in ownership and size transition: size transition is more likely to happen at intermediate levels of family involvement in ownership. Additionally, our analysis shows that family involvement in the board of directors negatively impacts size transition, while the presence of a family CEO has a positive influence.Originality/valueTo the best of our knowledge, this study represents the first exploration of the phenomenon of size transition within entrepreneurial family firms. We believe it was worthwhile for two reasons. First, small size is frequently regarded as a weakness when competing in international markets, investing in R&D, or rewarding shareholders. Second, since small family firms are the major contributors to the world economy, understanding the factors that facilitate their transition to large firms can have a significant impact on overall economic development and prosperity.

The Relevance of Family Language Policy in Germany and Italy in the Development of Child Bilingualism: The Role of Natural Translation

The purpose of this paper is to analyse the role of natural translation in heritage speakers’ bilingual communication in relation to the family language policies (FLP) adopted to maintain heritage language in Italian and German multilingual families. In order to investigate this, in spring 2023, a semi-structured questionnaire was administered to both parents and children. The sample consists of 60 Russian-speaking bilingual HS living in Italy and Germany, where they have access to regular primary education and attend, in some cases, private Russian courses or schools. The informants do not receive specific translation training from or into the Russian language (they only practice translation at school from or into Italian/German), and they translate, in most cases, as an occasional activity, closer to the function of mediation or brokering. The role of translation in relation to FLP seems particularly relevant when comparing the two samples, considering different family compositions: mostly bi-ethnic in Italy and mono-ethnic in Germany. The survey showed that in daily life, both parents and children use translation, often as a specific kind of bilingual communication. In the Italian part of the sample, the strategy called OPOL prevails, and translation is a frequent activity in the domestic sphere. In the German one, instead, the separation of language use contexts is widespread, and all family members speak both Russian and German, making translation activity less relevant.

The Psychosocial Impact of the COVID-19 Pandemic on Italian Families: The Perception of Quality of Life and Screening of Psychological Symptoms.

Throughout the COVID-19 period, families were forced to stay indoors, adapting to online schooling, remote work, and virtual social engagements, inevitably altering the dynamics within households. There was a notable increase in mental health challenges in terms of anxiety and depression in children and adolescents. This study intended to explore the psychosocial effects of the COVID-19 pandemic on Italian families by adopting self- and proxy-report questionnaires on anxiety, anger, and health-related quality of life. The results showed that approximately 20% obtained a clinical anxiety score and only 10% obtained a clinical anger score. There was a difference in the perception of the quality of life reported by the child and that perceived by the parent. A stepwise regression model showed that total anxiety scores were predicted by sex, quality of life scores from the parents' self-report version, and the total anger score. Another stepwise regression model identified physiological and social anxiety as the best predictors that impact quality of life. Parental well-being actively influences the well-being of children, so it is fundamental to implement preventive programs and promote child well-being by providing parents the most adequate support possible.

Genome-wide linkage and association of novel genes and pathways with type 2 diabetes in Italian families

BackgroundType 2 diabetes mellitus (T2D) stands as one of the most prevalent chronic diseases globally, posing substantial health and economic burdens on society. Within the spectrum of T2D, familial cases emerge as a distinct entity characterized by a strong familial clustering of the disease. This phenomenon has long suggested that genetics contributes substantially to T2D susceptibility, motivating extensive research into the genetic determinants of familial T2D. MethodsWe recruited 212 multigenerational Italian families with multiple cases of T2D. The families were genotyped using genomic array (≥ 600k) derived from the UK Biobank Axiom Array platform. Informative markers were tested via Pseudomarker for linkage to and linkage disequilibrium (i.e., linkage joint to association) with T2D across the following models: dominant with complete penetrance (D1), dominant with incomplete penetrance (D2), recessive with complete penetrance (R1), and recessive with incomplete penetrance (R2). ResultsWe identified a total of 566 variants reaching genome-wide significant (P < 0.00005) linkage and/or association to/with the risk of T2D in Italian families. Of the 355 genes identified in our study, 341 (96%) are novel and have not been reported with T2D or any of its related phenotypes (i.e., obesity, metabolic syndrome, insulin resistance, polycystic ovary syndrome, and hyperglycemia). ConclusionOur study constitutes the first familial T2D-linkage and association study in the Italian population. However, the functional relevance of the novel variants and genes reported in our study remains to be explored.

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency. In this study, we describe six Italian families with five different heterozygous missense CYCS variants: p.Gly42Ser and p.Tyr49His previously associated with THC4, and three novel variants (p.Ala52Thr, p.Arg92Gly, and p.Leu99Val), which have been classified as pathogenic by bioinformatics and segregation analyses. Moreover, we supported functional effects of p.Ala52Thr and p.Arg92Gly on oxidative growth and respiratory activity in a yeast model. The clinical characterization of the 22 affected individuals, the largest series of THC4 patients ever reported, showed that this disorder is characterized by mild-to-moderate thrombocytopenia, normal platelet size, and function, low risk of bleeding, and no additional clinical phenotypes associated with reduced platelet count. Finally, we describe a significant correlation between the region of CYCS affected by mutations and the extent of thrombocytopenia, which could reflect different degrees of impairment of CYCS functions caused by different pathogenetic variants.

“The clock is ticking”: (dis)orientations to ageing and end-of-life care in advanced capitalism and care directives

This article engages Italian migrant experiences and enactments of futurity to problematize neoliberal anticipatory approaches to ageing and care. Stepping beyond the focus on atomized and agentic individuals and a singular imagined future defined by notions of advancement and progress, sistemazione (home, future, and security) offers ways of building alternative and relational futures within times and spaces of shared precarity. We draw on ethnographic fieldwork and interviews with Italian migrant families living in Adelaide, and a critical analysis of objects as “orienting devices,” to consider how a family heirloom, a 26-face handmade Italian clock made from the physical remnants of World War II, offers new ways of imagining care within spaces of ruin.

“All employees are equal … but some are more equal than others”. Role identity and nonfamily member discrimination in family SMEs

PurposeThis paper aims to investigate if, under which conditions, and with which consequences, nonfamily members have the perception of being discriminated against as a consequence of nepotism and adverse selection practices. This research also aims to investigate whether the carried-out role influences the perception of being discriminated against among nonfamily member employees.Design/methodology/approachA quantitative approach was carried out by adopting a structural equation model (SEM) analysis. The survey investigated a sample of Italian family SMEs (participating companies N = 186, total questionnaires collected N = 838).FindingsDrawing on the multiple identities theory, findings show that role salience (RS) effectively contributes to reducing the unwanted effects of perceived discrimination (PD) among nonfamily member employees. In doing so, this study deepens the knowledge of nonfamily member employment conditions and their consequences on strategic outcomes such as organizational commitment (OC), organizational justice (OJ) and intention to quit (ITQ).Research limitations/implicationsBy adopting a self-categorization approach, this study also advances current theoretical literature, as this methodological lens could help scholars further understand diversity in family business.Practical implicationsThis study suggests it would be advisable to implement human resource management practices based on job rotation to promote cohesion and reduce perceived distances.Social implicationsSMEs are the most widespread type of firm in the world; as a consequence, avoiding PD among nonfamily member employees has general ethical relevance.Originality/valueThis study expands current literature by showing that RS plays an important role in determining levels of PD. This study also advances current literature by focusing on the impact of multiple identities on fairness and commitment at individual and group levels of analysis of family businesses.

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non-dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in known causative genes (CLCN1 and SCN4A). Juvenile Myoclonic Epilepsy (JME) is an epileptic syndrome identified as idiopathic generalized epilepsy, its genetics is complex and still unclarified. The co-occurrence of these two phenotypes is rare and the causes likely have a genetic background. In this study, we have genetically investigated an Italian family in which co-segregates myotonia, JME, or abnormal EEG without seizures was observed. All six individuals of the family, 4 affected and 2 unaffected, were clinically evaluated; EMG and EEG examinations were performed. For genetic testing, Exome Sequencing was performed for the six family members and Sanger sequencing was used to confirm the candidate variant. Four family members, the mother and three siblings, were affected by myotonia. Moreover, EEG recordings revealed interictal generalized sharp-wave discharges in all affected individuals, and two siblings were affected by JME. All four affected members share the same identified variant, c.644 T > C, p.Ile215Thr, in SCN4A gene. Variants that could account for the epileptic phenotype alone, separately from the myotonic one, were not identified. These results provide supporting evidence that both myotonic and epileptic phenotypes could share a common genetic background, due to variants in SCN4A gene. SCN4A pathogenic variants, already known to be causative of myotonia, likely increase the susceptibility to epilepsy in our family. This study analyzed all members of an Italian family, in which the mother and three siblings had myotonia and epilepsy. Genetic analysis allowed to identify a variant in the SCN4A gene, which appears to be the cause of both clinical signs in this family.

Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.

SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival. To clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD). Genetic diagnosis was reached through next-generation sequencing. Pathogenicity was assessed by molecular dynamics simulation and biochemical studies on peripheral blood mononuclear cells (PBMCs). Five siblings carried SNCA p.V15A; three developed bradykinetic-rigid PD in their 50s with rapid motor progression and variable cognitive impairment. A fourth sibling had isolated mood disturbance, whereas the fifth was still unaffected at age 47. The mutant protein showed decreased stability and an unstable folded structure. Proband's PBMCs showed elevated total and phosphorylated α-synuclein (α-syn) levels and significantly reduced glucocerebrosidase activity. This study demonstrates accumulation of α-synV15A in PBMCs and strengthens the link between α-syn pathophysiology and glucocerebrosidase dysfunction. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Negative Co-Parenting and Children's Adjustment: The Role of Children's Appraisals and Triangulation

Existing literature has outlined how negative co-parenting could affect children's ad-justment through children's subjective appraisals and triangulation. However, no stud-ies have investigated whether children's cognitive appraisals and two distinct forms of children's triangulation (feelings and involvement) could be serial mediators of the associations between negative co-parenting and children's adjustment. Mediation analyses were performed using a sample of 125 Italian families of children aged 8-14. Results showed that negative co-parenting was linked to children's threat and self-blame appraisals. Data also suggested how both children's subjective appraisals (threat and self-blame) were associated with the two forms of children's triangulation (direct involvement and subjective triangulation). Finally, the results indicated two specific pathways for the serial mediation of children's cognitive appraisals and triangulation in the association between negative co-parenting and children's adjustment. On the one hand, subjective triangulation predicts children's internalizing behaviors. On the other hand, triangulation involvement promotes children's externalizing behaviors. .

Timing the transition: gender diversity’s role in family IPOs

PurposeThis study investigates the relationship between board gender diversity (BGD) and the time to Initial Public Offering (IPO), which stands as an entrepreneurially risky choice, particularly challenging in family firms. We also investigate the moderating role of family ownership dispersion (FOD).Design/methodology/approachWe draw on an integrated theoretical framework bringing together the upper echelons theory and the socio-emotional wealth (SEW) perspective and on hand-collected data on a sample of Italian family IPOs that occurred in the period 2000–2020. We employ ordinary least squares (OLS) regression and alternative model estimations to test our hypotheses.FindingsBGD positively affects the time to IPO, thus, it increases the time required to go public. FOD negatively moderates this relationship. Our findings remain robust with different measures for BGD, FOD, and family business definition as well as with different econometric models.Originality/valueThe article develops literature on family firms and IPO and it enriches the academic debate about gender and IPOs in family firms. It adds to studies addressing the determinants of the time to IPO by incorporating gender diversity and the FOD into the discussion. Finally, it contributes to research on women and outcomes in family firms.

Linkage and association of rs3110045 and rs28499085 variants in the thyrotropin-releasing hormone receptor (TRHR) gene with the risk of familial type 2 diabetes

Type 2 diabetes (T2D) is a chronic and prevalent multisystemic disease that significantly increases morbidity and mortality. Dysfunction of the thyroid hormone system is common in patients with T2D, increasing their risk of both hyperthyroidism and hypothyroidism. Several components of the thyroid system are candidate risk genes for T2D. The thyrotropin-releasing hormone receptor (TRHR) gene encoding for TRHR is of particular interest since it is expressed by the dorsomedial hypothalamus neurons, which are known to regulate food intake. In humans, a variant in the TRHR gene has been previously reported in T2D patients in a population-based case-control study but not in familial T2D. We recruited 212 multigenerational families with T2D originated from the Italian peninsula with multiple cases of T2D and tested, via Pseudomarker 9 single nucleotide polymorphisms (SNPs) in the TRHR gene for linkage and linkage disequilibrium (i.e., linkage plus association) to/with T2D. We identified 2 novel risk variants (rs3110045 and rs28499085) significantly linked to and associated with the risk of T2D in the Italian families across several inheritance models. Our study is the first to confirm the previously reported association of TRHR gene with T2D and extends the risk to familial inheritance. However, functional and replication studies are still needed to confirm these results.