Search Results (18)

Background/Objectives: Sleep plays a crucial role in children’s cognitive, emotional, and physical development. Although sleep practices and perceptions are shaped significantly by cultural and familial contexts, most sleep recommendations are developed by Western countries. This qualitative study explores primary school children’s perceptions of sleep, examining how cultural contexts, family environments, and technology influence sleep practices. Methods: Two cross studies were conducted: Study 1, in India, involved 15 children aged 8–12 years, and Study 2, in the UK, involved 12 children aged 8–10 years. Semi-structured group interviews and thematic analysis were used. Results: Both studies revealed common themes, including perceived sleep benefits, consequences of poor sleep, factors affecting sleep quality, and the role of technology. Study 1 showed that Indian children identified clear benefits of sleep, such as physical and emotional well-being, while highlighting significant barriers, including late bedtime routines, stress related to academic performance, and extensive use of social media and digital media devices. Cultural and religious practices were commonly mentioned as sleep aids. Study 2’s results from the UK revealed similar recognition of sleep benefits, notably recovery and growth. UK children emphasised environmental barriers such as noise pollution, sibling disturbances, and uncomfortable sleeping conditions. Technology usage was acknowledged as both a barrier and an occasional aid, with stricter parental controls on bedtime and device usage. Conclusions: This research highlights the importance of culturally sensitive sleep education programmes and recommendations to enhance children’s sleep health globally. Full article

Background/Objectives: Mothers expecting a second child experience the parenting of multiple children for the first time, differing from first-time motherhood. This highlights the need for childbirth preparation education tailored to families expecting a second child. Parental self-efficacy influences maternal mental health, child development, and parent–child interactions. This non-randomized pilot exploratory study aimed to examine the association between childbirth preparation education for families expecting a second child and maternal parental self-efficacy at 1-month postpartum, focusing on a family-based, single-session program actively involving firstborn children. Methods: The intervention group (n = 18) received childbirth preparation education during pregnancy and completed questionnaires and semi-structured interviews at 1-month postpartum. The control group (n = 34) completed questionnaires only at 1-month postpartum. Questionnaires included the Parenting Sense of Competence Scale, Rosenberg Self-Esteem Scale, Maternal Attachment Inventory, Edinburgh Postnatal Depression Scale, and demographic information. Semi-structured interviews explored participants’ experiences and feelings after attending the childbirth preparation class. Results: Compared to the control group, the intervention group had higher Parenting Sense of Competence Scale scores; mothers in the intervention group reported smoother family-wide adaptation to life with a second child, greater confidence in child-rearing, recognition of the firstborn’s growth into an older sibling, and effective use of hands-on experiences from the class. Conclusions: Childbirth preparation education for families expecting a second child may be associated with higher maternal parental self-efficacy at 1-month postpartum. This association may reflect collective family preparation and adjustment supporting adaptation to life with a second child. Full article

Background: Cardiomyopathies are a heterogeneous group of heart muscle disorders with diverse genetic origins. Biallelic loss-of-function (LoF) variants in the nebulin-related anchoring protein (NRAP) gene have been linked to dilated cardiomyopathy (DCM) and left ventricular noncompaction cardiomyopathy, though only a few families have been described. NRAP, a member of the Nebulin family, plays a key role in cardiomyocyte development, structural integrity, and muscle function. Methods: We investigated two Italian siblings with DCM born to consanguineous parents from a small village in Campania. Exome sequencing, homozygosity mapping, and comparative analyses with other reported cases were performed. Genealogical research was conducted using civil registry data to reconstruct extended family pedigrees. Results: Both siblings were homozygous for a LoF variant in NRAP (NM_198060.4:c.619del; p.Val207TrpfsTer20). A third brother with tachycardia-induced cardiomyopathy, as well as their living mother, who did not have cardiac abnormalities, were found to be heterozygous. The same homozygous variant was recently identified in another Italian family with DCM coming from North-eastern Italy, whose proband also originated from a nearby village in Campania. These two families exhibited heterogeneity in clinical presentation. Homozygosity analysis revealed a >25 Mb shared region on chromosome 10 encompassing NRAP, supporting a common ancestral origin. While genealogical reconstruction did not allow identification of a shared ancestor, it confirmed consanguinity and enabled the recognition of potential carriers across both families. Conclusions: Our findings strengthen the evidence for NRAP as a disease-causing gene in cardiomyopathies and highlight a likely founder effect in Campania. Incorporating NRAP into genetic testing panels is warranted, especially in populations with high rates of consanguinity or suspected founder variants. Full article

Background: Siblings of children with autism spectrum disorder (ASD) are considered biologically at risk of developing neurodevelopmental disorders (NDDs) that may involve sensorimotor, adaptive, and social–communication domains. Previous studies have highlighted the potential value of early intervention programs during the first year of life, when symptoms may not yet be evident. This study explores the impact of pre-emptive and early interventions on the developmental trajectories of infants at risk for NDDs. Methods: This case-series study included four children (one at low risk and three at high risk) who participated in the ERI-SIBS Project (Early Recognition and Intervention in Siblings at High Risk for Neurodevelopmental Disorders), an ongoing, innovative, and ecological early recognition and intervention program for siblings of children with ASD. Intervention frequency was personalized based on the presence or absence of early risk indicators and continued for six months. Data on global functioning, social-communication abilities, and mother–child interactions were collected over one year. Results: Qualitative analysis revealed four distinct developmental trajectories and treatment responses, emphasizing the need for a multidimensional approach and the active engagement of parents in the intervention process. Conclusions: Findings from this case series provide an in-depth understanding of how biological and environmental factors may interact to influence the outcomes of early interventions in children at risk for NDDs. These results underscore the importance of early, individualized, and family-centered approaches to support optimal developmental outcomes. Full article

Background and Clinical Significance: Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutations in the ZNF469 or PRDM5 genes, which regulate extracellular matrix integrity. Early recognition and diagnosis of BCS are crucial to prevent severe visual impairment. This report presents two genetically confirmed cases of BCS in Albanian siblings, emphasizing the diagnostic value of whole-exome sequencing and individualized surgical management strategies. Case Presentation: Two siblings—a 28-year-old male and a 25-year-old female—presented with progressive visual deterioration and marked corneal thinning (<200 µm). Both had a history of spontaneous ocular rupture following minor trauma in the contralateral eye. Detailed ophthalmologic evaluation revealed keratoglobus, high myopia, and irregular astigmatism. Genetic testing identified the homozygous pathogenic variant c.974delG (p.Cys325LeufsX2) in the PRDM5 gene in both cases. The male underwent penetrating keratoplasty (PKP), achieving a best-corrected visual acuity (BCVA) of 20/30. The female initially underwent deep anterior lamellar keratoplasty (DALK), which was converted to PKP intraoperatively due to central endothelial perforation, resulting in a BCVA of 20/25. Both patients remained complication-free over a 7-year follow-up period. Conclusions: These cases highlight the importance of early genetic diagnosis and a tailored surgical approach in managing BCS. Long-term monitoring and protective strategies are essential to prevent complications. Incorporating genetic testing into clinical practice can enhance diagnostic accuracy and guide personalized treatment plans in patients with hereditary corneal dystrophies. Full article

In this study, we present four cases of Human Bocavirus (HBoV) infection in children aged between 1 month and 4 years. Among these cases, two siblings were hospitalized with similar symptoms. Among the four pediatric cases of patients with HBoV infection, three were associated with acute respiratory failure and spontaneous pneumothorax, and two of these presented with subcutaneous emphysema. The presented patients were young children, aged between 1 month and 4 years, two of whom were siblings, suggesting a possible intrafamilial transmission of HBoV1 infection. These cases highlight the importance of considering HBoV as a differential diagnosis in pediatric patients with respiratory and gastrointestinal symptoms. Early recognition and appropriate medical care are important in treating HBoV infection in young children. Full article

Existing evidence suggests that developmental prosopagnosia (DP) is a surprisingly prevalent condition, with some individuals describing lifelong difficulties with facial identity recognition. Together with case reports of multiple family members with the condition, this evidence suggests that DP is inherited in at least some instances. Here, we offer some novel case series that further support the heritability of the condition. First, we describe five adult siblings who presented to our lab with symptoms of DP. Second, for the first known time in the literature, we describe a pair of adult identical twins who contacted us in the belief that they both experience DP. The condition was confirmed in three of the five siblings (with minor symptoms observed in the remaining two) and in both twins. Supplementary assessments suggested that all individuals also experienced some degree of difficulty with facial identity perception, but that object recognition was preserved. These findings bolster the evidence supporting the heritability of DP and suggest that it can be a specific impairment in some cases. Full article

Insect pests like Tribolium and Sitophilus siblings are major threats to grain storage and processing, causing quality and quantity losses that endanger food security. These closely related species, having very similar morphological and biological characteristics, often exhibit variations in biology and pesticide resistance, complicating control efforts. Accurate pest species identification is essential for effective control, but workplace safety in the grain bin associated with grain deterioration, clumping, fumigator hazards, and air quality create challenges. Therefore, there is a pressing need for an online automated detection system. In this work, we enriched the stored-grain pest sibling image dataset, which includes 25,032 annotated Tribolium samples of two species and five geographical strains from real warehouse and another 1774 from the lab. As previously demonstrated on the Sitophilus family, Convolutional Neural Networks demonstrate distinct advantages over other model architectures in detecting Tribolium. Our CNN model, MCSNet+, integrates Soft-NMS for better recall in dense object detection, a Position-Sensitive Prediction Model to handle translation issues, and anchor parameter fine-tuning for improved matching and speed. This approach significantly enhances mean Average Precision (mAP) for Sitophilus and Tribolium, reaching a minimum of 92.67 ± 1.74% and 94.27 ± 1.02%, respectively. Moreover, MCSNet+ exhibits significant improvements in prediction speed, advancing from 0.055 s/img to 0.133 s/img, and elevates the recognition rates of moving insect sibling species in real wheat storage and visible light, rising from 2.32% to 2.53%. The detection performance of the model on laboratory-captured images surpasses that of real storage facilities, with better results for Tribolium compared to Sitophilus. Although inter-strain variances are less pronounced, the model achieves acceptable detection results across different Tribolium geographical strains, with a minimum recognition rate of 82.64 ± 1.27%. In real-time monitoring videos of grain storage facilities with wheat backgrounds, the enhanced deep learning model based on Convolutional Neural Networks successfully detects and identifies closely related stored-grain pest images. This achievement provides a viable solution for establishing an online pest management system in real storage facilities. Full article

The selection of hematopoietic stem cell donors for allogeneic transplantation (allo-HSCT) is mainly driven by human leucocyte antigen (HLA) matching between patient and donor, with HLA-identical matched siblings being the preferred choice in most situations. Although other clinical and demographical variables matter, especially, donor age, which is unequivocally associated with better transplant outcomes, the histocompatibility criteria have a central role in the search for the best donor, particularly in the setting of unrelated allo-HSCT where HLA disparities between patient and donor are frequent. The present review is focused on the role of HLA incompatibilities on patient outcome according to the most recent literature, in an attempt to guide transplant physicians and search coordinators during the process of adult unrelated-donor selection. The technological progresses in HLA typing, i.e., with next-generation sequencing (NGS), now allow disclosing a growing number of HLA incompatibilities associated with a heterogeneous and sometimes unknown spectrum of clinical severity. Their immunogenic characteristics, i.e., their position inside or outside the antigen recognition domain (ARD), their permissiveness, their intronic or exonic nature and even the expected expression of the HLA loci where those mismatches occur, will be presented and discussed here, integrating the advances in the immunobiology of transplantation with survival and toxicity outcomes reported in the most relevant studies, within the perspective of improving donor selection in the current practice. Full article

Background: The fragile X premutation carrier state (PM) (55–200 CGG repeats in the fragile X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia (FXTAS), with current literature largely primarily investigating older PM individuals. The aim of this study was to identify the prevalence of fragile X-associated neurodevelopmental disorders (FXAND) in a sample of young PM individuals. Methods: This was a retrospective study conducted through a medical record review of PM individuals who were seen either for clinical concerns (probands, 45.9%) or identified through the cascade testing (non-probands, 54.1%) of an affected sibling with fragile X syndrome. Information on the presence of autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, depression, long-term psychiatric medication intake, and cognitive function, based on standardized assessments, was obtained. Molecular data, including CGG repeat number and FMR1 mRNA levels, were also available for a subset of participants. Analysis included descriptive statistics and a test of comparison to describe the clinical profile of PM individuals pertinent to FXAND. Results: Participants included 61 individuals (52 males and 9 females) aged 7.8 to 20.0 years (mean 12.6 ± 3.4) with a mean full-scale IQ of 90.9 ± 22.7. The majority (N = 52; 85.2%) had at least one mental health disorder, with anxiety being the most common (82.0% of subjects), followed by ADHD (66.5%), and ASD (32.8%). Twenty-seven (87.1%) of non-probands also had at least one mental health condition, with probands having lower cognitive and adaptive skills than non-probands. ASD was present in 20 participants (17/52 males and 3/9 females; 15 probands) with significantly lower FSIQ in those with ASD (mean 73.5 vs. 98.0, p < 0.001). Participants with ASD had a higher number of long-term medications compared to those without (2.32 vs. 1.3, p = 0.002). Conclusions: Our findings indicate a high rate of FXAND diagnoses within a cohort of young PM individuals, including those identified via cascade testing, although this was not a population sample. An awareness of the entity of FXAND and the early recognition of the symptoms of associated conditions may facilitate timely and appropriate care for PM individuals. Full article

Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM). A literature search was carried out to scrutinize the subtypes of maturity-onset diabetes of the young (MODY), as well as the connection between the recognized genetic and molecular mechanisms responsible for such phenotypes. Thus far, 14 subtypes of MODY have been identified. Here, the authors review the pathophysiological and molecular pathways in which monogenic diabetes genes are involved. Despite being estimated to affect approximately 2% of all T2DM patients in Europe, the exact prevalence of MODY is still unknown, enhancing the need for research focused on biomarkers. Due to its impact in personalized medicine, a follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Currently, advances in the genetics field has allowed for the recognition of new DM subtypes, which until now were considered to be slight variations of the typical forms. New molecular insights can define therapeutic strategies, aiming for the prevention, correction, or at least delay of β-cell dysfunction. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations to improve diagnosis and individualize treatment. Full article

Atypical hemolytic uremic syndrome (aHUS) is a life-threatening disease causing systemic thrombotic microangiopathy (TMA) due to the fact of complement dysregulation. Immune activation by viruses, including SARS-CoV-2, can lead to the development of an episode of aHUS against a background of genetic dysregulation in the complement pathway. This paper presents an analysis of two cases of aHUS—siblings diagnosed with familial disease, with a genetic predisposition to aHUS, in whom infection with SARS-CoV-2 was a strong trigger of disease recurrence. The quick recognition and treatment with eculizumab in the early stage of the disease resulted in a rapid improvement in clinical conditions and laboratory parameters. Full article

Domain diversities, including inconsistent annotation and varied image collection conditions, inevitably exist among different facial expression recognition (FER) datasets, posing an evident challenge for adapting FER models trained on one dataset to another one. Recent works mainly focus on domain-invariant deep feature learning with adversarial learning mechanisms, ignoring the sibling facial action unit (AU) detection task, which has obtained great progress. Considering that AUs objectively determine facial expressions, this paper proposes an AU-guided unsupervised domain-adaptive FER (AdaFER) framework to relieve the annotation bias between different FER datasets. In AdaFER, we first leverage an advanced model for AU detection on both a source and a target domain. Then, we compare the AU results to perform AU-guided annotating, i.e., target faces that own the same AUs as source faces would inherit the labels from the source domain. Meanwhile, to achieve domain-invariant compact features, we utilize an AU-guided triplet training, which randomly collects anchor–positive–negative triplets on both domains with AUs. We conduct extensive experiments on several popular benchmarks and show that AdaFER achieves state-of-the-art results on all these benchmarks. Full article

Invertebrates do not possess adaptive immunity but have evolved a variety of unique repertoires of innate immune sensors. In this study, we explored the immune diversity and specificity of invertebrates based on the lophotrochozoan RLRs, a major component in antiviral immune recognition. By annotating RLRs in the genomes of 58 representative species across metazoan evolution, we explored the gene expansion of RLRs in Lophotrochozoa. Of note, the N-terminal domains of lophotrochozoan RLRs showed the most striking diversity which evolved independently by domain grafting. Exon–intron structures were revealed to be prevalent in the domain grafting of lophotrochozoan RLRs based on an analysis of sibling paralogs and orthologs. In more than half of the cases, the mechanism of ‘exonization/pseudoexonization’ led to the generation of non-canonical N-terminal domains. Transcriptomic studies revealed that many non-canonical RLRs display immune-related expression patterns. Two of these RLRs showed obvious evidence of positive selection, which may be the result of host defense selection pressure. Overall, our study suggests that the complex and unique domain arrangement of lophotrochozoan RLRs might result from domain grafting, exon–intron divergence, expression diversification, and positive selection, which may have led to functionally distinct lophotrochozoan RLRs. Full article

Accurate identification of siblings through face recognition is a challenging task. This is predominantly because of the high degree of similarities among the faces of siblings. In this study, we investigate the use of state-of-the-art deep learning face recognition models to evaluate their capacity for discrimination between sibling faces using various similarity indices. The specific models examined for this purpose are FaceNet, VGGFace, VGG16, and VGG19. For each pair of images provided, the embeddings have been calculated using the chosen deep learning model. Five standard similarity measures, namely, cosine similarity, Euclidean distance, structured similarity, Manhattan distance, and Minkowski distance, are used to classify images looking for their identity on the threshold defined for each of the similarity measures. The accuracy, precision, and misclassification rate of each model are calculated using standard confusion matrices. Four different experimental datasets for full-frontal-face, eyes, nose, and forehead of sibling pairs are constructed using publicly available HQf subset of the SiblingDB database. The experimental results show that the accuracy of the chosen deep learning models to distinguish siblings based on the full-frontal-face and cropped face areas vary based on the face area compared. It is observed that VGGFace is best while comparing the full-frontal-face and eyes—the accuracy of classification being with more than 95% in this case. However, its accuracy degrades significantly when the noses are compared, while FaceNet provides the best result for classification based on the nose. Similarly, VGG16 and VGG19 are not the best models for classification using the eyes, but these models provide favorable results when foreheads are compared. Full article