Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients\' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven\'t come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.

UNASSIGNED: The purpose of this study was to determine whether social support from extended family and church members moderate the association between chronic stress exposure and sleep quality in a nationally representative sample of African American adults.
UNASSIGNED: Data from African American respondents aged 18 and older were drawn from the National Survey of American Life-Reinterview. The analytic sample for this study included 1,372 African American adults who attended religious services at least a few times a year, as the church-based relationship measures were only assessed for these individuals. Self-reported sleep quality was assessed by sleep satisfaction, trouble falling asleep, and restless sleep. Chronic stress exposure was measured by a nine-item index. OLS and logistic regression were used to estimate the relationship between chronic stress exposure, extended family and church relationships, and sleep quality.
UNASSIGNED: The data indicated that chronic stress exposure was associated with decreased sleep satisfaction, increased likelihood of trouble falling asleep and restless sleep. Receiving emotional support from family and more frequent contact with church members were associated with decreased restless sleep. Emotional family support moderated the associations between chronic stress exposure and trouble falling asleep and restless sleep. The positive associations between chronic stress exposure and these two sleep quality measures were attenuated among respondents who received high levels of emotional support from their family.
UNASSIGNED: Together, these findings underscore the detriment of chronic stress exposure to African Americans\' sleep quality and suggest that extended family members are effective stress coping resources and play an important role in this population\'s sleep quality.

Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients\' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq). The interpretations of the genomic results were guided by genome-wide homozygosity mapping. Haplotype analysis was performed for cases with recurrent mutations. RNA-Seq, in addition to mutation detection, was also utilized to confirm the pathogenicity. Thirteen sequence variants, including six previously unreported pathogenic variants, were disclosed in 17 Iranian families, with XPC as the most common mutated gene in 10 families (59%). In one patient, RNA-Seq, as a first-tier diagnostic approach, revealed a non-canonical homozygous germline variant: XPC:c.413-9 T > A. The Sashimi plot showed skipping of exon 4 with dramatic XPC down-expression. Haplotype analysis of XPC:c.2251-1 G>C and XPC:1243 C>T in four families showed common haplotypes of 1.7 Mb and 2.6 Mb, respectively, denoting a founder effect. Lastly, two extremely rare cases were presented in this report: a homozygous UVSSA:c .1990 C>T was disclosed, and ERCC2-related cerebro-oculo-facio-skeletal (COFS) syndrome with an early childhood death. A direct comparison of our data with the results of previously reported cohorts demonstrates the international mutation landscape of DNA repair-related photosensitivity disorders, although population-specific differences were observed.

Understanding how child maltreatment is passed down from one generation to the next is crucial for the development of intervention and prevention strategies that may break the cycle of child maltreatment. Changes in emotion recognition due to childhood maltreatment have repeatedly been found, and may underly the intergenerational transmission of child maltreatment.
In this study we, therefore, examined whether the ability to recognize emotions plays a role in the intergenerational transmission of child abuse and neglect.
A total of 250 parents (104 males, 146 females) were included that participated in a three-generation family study.
Participants completed an emotion recognition task in which they were presented with series of photographs that depicted the unfolding of facial expressions from neutrality to the peak emotions anger, fear, happiness, and sadness. Multi-informant measures were used to examine experienced and perpetrated child maltreatment.
A history of abuse, but not neglect, predicted a shorter reaction time to identify fear and anger. In addition, parents who showed higher levels of neglectful behavior made more errors in identifying fear, whereas parents who showed higher levels of abusive behavior made more errors in identifying anger. Emotion recognition did not mediate the association between experienced and perpetrated child maltreatment.
Findings highlight the importance of distinguishing between abuse and neglect when investigating the precursors and sequalae of child maltreatment. In addition, the effectiveness of interventions that aim to break the cycle of abuse and neglect could be improved by better addressing the specific problems with emotion processing of abusive and neglectful parents.

Gestational diabetes (GDM) changes the maternal metabolic and uterine environment, thus increasing the risk of short- and long-term adverse outcomes for both mother and child. Children of mothers who have GDM during their pregnancy are more likely to develop Type 2 Diabetes (T2D), early-onset cardiovascular disease and GDM when they themselves become pregnant, perpetuating a multigenerational increased risk of metabolic disease. The negative effect of GDM is exacerbated by maternal obesity, which induces a greater derangement of fetal adipogenesis and growth. Multiple factors, including genetic, epigenetic and metabolic, which interact with lifestyle factors and the environment, are likely to contribute to the development of GDM. Genetic factors are particularly important, with 30% of women with GDM having at least one parent with T2D. Fetal epigenetic modifications occur in response to maternal GDM, and may mediate both multi- and transgenerational risk. Changes to the maternal metabolome in GDM are primarily related to fatty acid oxidation, inflammation and insulin resistance. These might be effective early biomarkers allowing the identification of women at risk of GDM prior to the development of hyperglycaemia. The impact of the intra-uterine environment on the developing fetus, \"developmental programming\", has a multisystem effect, but its influence on adipogenesis is particularly important as it will determine baseline insulin sensitivity, and the response to future metabolic challenges. Identifying the critical window of metabolic development and developing effective interventions are key to our ability to improve population metabolic health.

Background and Objectives: Danon disease is a multisystemic disorder associated with variants in the LAMP2 gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a novel splice-affecting variant c.928+3A>G. Affected patients exhibit a cardiac phenotype, moderate mental disability, and mild retinal changes. Materials and Methods: Both patients underwent either exome or hypertrophic cardiomyopathy gene panel next-generation sequencing. The pathogenic variant effect was determined using reverse transcription, Sanger sequencing, and high-resolution electrophoresis. Results: Evaluation of the splicing process revealed that approximately 80% of the transcripts exhibited a lack of the entire exon 7. This alteration was predicted to cause a shift of the reading frame, consequently introducing a premature stop codon downstream in the sequence. Conclusions: Based on our data, we propose that c.928+3A>G is a pathogenic variant associated with Danon disease.

In New Zealand egg donation is identity-release, and donors may be known to recipients, e.g. family members/friends, or previously unknown e.g. clinic-recruited or sourced through advertising. In the case of unknown donors, New Zealand practice allows donors and recipients to meet face-to-face prior to donation in a joint counselling meeting. While contact details may not necessarily be exchanged in counselling, information-exchange and contact expectations are usually addressed. In previous papers, we explored donors\' motivations and experiences of donation. In this paper, we explore donors\' ideas around their role in relation to the donor-conceived person (DCP) and their expectations and experiences of information-exchange and contact. While donors did not see themselves as parents and were aware of appropriate boundaries, they described a sense of ongoing connection to DCP, often framing this in extended family terms. They desired to be kept informed about DCP, considered themselves \'on standby\' for information requests or in-person contact and valued the opportunity for connection between their children and DCP. Donors were, however, cognisant of the limits to their ability to ensure information-exchange and contact and sometimes struggled with their perceived disempowered position. Meeting prior to donation may both clarify and reinforce expectations of information-exchange and contact.

Grandparents play a critical role in child rearing across the globe. Yet, there is a shortage of neurobiological research examining the relationship between grandparents and their grandchildren. We employ multi-brain neurocomputational models to simulate how changes in neurophysiological processes in both development and healthy aging affect multigenerational inter-brain coupling - a neural marker that has been linked to a range of socio-emotional and cognitive outcomes. The simulations suggest that grandparent-child interactions may be paired with higher inter-brain coupling than parent-child interactions, raising the possibility that the former may be more advantageous under certain conditions. Critically, this enhancement of inter-brain coupling for grandparent-child interactions is more pronounced in tri-generational interactions that also include a parent, which may speak to findings that grandparent involvement in childrearing is most beneficial if the parent is also an active household member. Together, these findings underscore that a better understanding of the neurobiological basis of cross-generational interactions is vital, and that such knowledge can be helpful in guiding interventions that consider the whole family. We advocate for a community neuroscience approach in developmental social neuroscience to capture the diversity of child-caregiver relationships in real-world settings.

The influence of kin on various outcomes is heavily debated. However, kinship size itself conditions the probability of potential effects. Socio-economic gradients in the prevalence, variance, and types of kin are, therefore, a vital aspect of the functions of kin. Unfortunately, these parameters are largely unknown. We used Swedish register data to enumerate consanguine and in-law kin across the life course of the 1975 birth cohort. We calculated differences in kinship size between this cohort\'s income quartiles and educational groups. We decomposed how specific kin relations, generations, and demographic behaviours contributed to these differences. Among low socio-economic status (SES) groups, higher fertility in earlier generations resulted in more kin compared with high-SES groups. Low-SES groups had more horizontal consanguine kin, while high-SES groups had more in-laws. Lower fertility and higher union instability among low-SES men substantially narrowed SES differences in kinship size. Kinship size varied substantially within SES groups.

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