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17 pages, 573 KB  
Article
The Home Learning Environment as a Mediator of the Impact of Parental Psychological Distress on Child Development
by Marie-Louise (Jessica) A. J. van de Grint-Stoop, Laurel A. Fish, Chloe Austerberry, Marialivia Bernardi and R. M. Pasco Fearon
Children 2026, 13(5), 582; https://doi.org/10.3390/children13050582 - 22 Apr 2026
Abstract
Background: Research on the well-established association between maternal mental health problems and poorer child outcomes has focused on negative parenting behaviour and overlooked psychosocial stimulation as a potential mediating mechanism. Additionally, whether the same association exists for fathers has been understudied. Methods [...] Read more.
Background: Research on the well-established association between maternal mental health problems and poorer child outcomes has focused on negative parenting behaviour and overlooked psychosocial stimulation as a potential mediating mechanism. Additionally, whether the same association exists for fathers has been understudied. Methods: We addressed these gaps using data from the nationally representative UK-based Millennium Cohort Study, including n = 15,623 children and their mothers (n = 14,922) and fathers (n = 12,408). Parental mental health and the home learning environment (HLE) were measured using the parent-reported Rutter Malaise Inventory at 9 months of age and the HLE Index at age 3, respectively. At 5 years of age, socio-emotional functioning was measured using the parent-reported Strengths and Difficulties Questionnaire, and cognitive and language abilities were assessed directly using British Ability Scales subtests. Results: Structural equation modelling indicated that the HLE significantly mediated the negative associations between PMH and children’s cognitive abilities (mother: β = −0.01, 95% CI [−0.01, −0.01], p < 0.001; father: β = −0.004, 95% CI [−0.008, −0.001], p = 0.025), socio-emotional functioning (mother: β = −0.01, 95% CI [−0.01, −0.01], p < 0.001; father, β = −0.004, 95% CI [−0.007, −0.001], p = 0.022), and language skills (mother: β = −0.01, 95% CI [−0.01, −0.01], p < 0.001; father: β = −0.005, 95% CI [−0.010, −0.001], p = 0.020). Conclusions: These findings support our hypotheses, with stronger associations identified for mothers than for fathers. The findings suggest that further research is needed on the impact of positive parenting, including the home learning environment, in the context of parental depression, using measurement instruments that provide insight in the quality of positive parenting. Full article
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16 pages, 1024 KB  
Article
Characteristics of Legionnaires’ Disease Cases Hospitalized at a Specialized Infectious Disease Hospital, 2023–2024, with a Focus on Clusters Associated with Travel to a Spa Resort
by Constanța-Angelica Vișan, Gina Filip, Carmen-Cristina Vasile, Anca Cristina Drăgănescu, Gheorghiță Jugulete, Anca Streinu-Cercel, Andreea Tudor, Laurențiu Mihăiță Stratan, Daniela Pițigoi and Ana Maria Tudor
Microorganisms 2026, 14(4), 935; https://doi.org/10.3390/microorganisms14040935 - 21 Apr 2026
Abstract
Legionnaires’ disease is a rare cause of atypical pneumonia associated with a high mortality rate among untreated patients. In Romania, the disease has historically been underreported due to insufficient surveillance and limited diagnostic capacity. The aim of this study was to describe the [...] Read more.
Legionnaires’ disease is a rare cause of atypical pneumonia associated with a high mortality rate among untreated patients. In Romania, the disease has historically been underreported due to insufficient surveillance and limited diagnostic capacity. The aim of this study was to describe the characteristics of Legionnaires’ disease cases admitted to a specialized infectious disease hospital between 2023 and 2024, with a particular focus on a cluster associated with travel to a spa resort. Most cases included in our study (31/36) were confirmed by urinary antigen testing, while one case was confirmed by a significant increase in the level of specific antibodies against Legionella pneumophila serogroup 1 in paired serum samples. The most frequently reported symptom was fever (28/32), followed by chills (24/32). Among the 32 confirmed cases, 3 patients died. Two cases were identified as part of a family cluster involving a father and son who had undergone physiotherapy at a balneary resort. Both patients presented with fever and gastrointestinal symptoms, and radiological investigations confirmed mixed pneumonia associated with an intense inflammatory syndrome. In the father’s case, hepatic involvement and interstitial nephritis were also identified. Early diagnosis based on epidemiological data, clinical predictive scores, and laboratory investigations would allow timely administration of targeted antibiotic therapy and may contribute to reduced mortality. Full article
(This article belongs to the Special Issue Infectious Disease Surveillance in Romania: Second Edition)
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15 pages, 556 KB  
Brief Report
Examining the Roles of Parent–Child Gender Dyads in the Association Between Parental Psychological Control and Adolescent Depressive Symptoms in Chinese Families
by Yuan Zhang, Shanhong Luo, Linda C. Halgunseth, Erin A. Moeser-Whittle, Anthony Hubert, Mary A. Balogun and Hao Wu
Behav. Sci. 2026, 16(4), 605; https://doi.org/10.3390/bs16040605 - 19 Apr 2026
Viewed by 147
Abstract
Although Chinese parents’ use of psychological control has been linked with adolescent mental health, no studies to our knowledge have considered how the association may differ across gender dyads of parents and adolescents and minimal research has examined the joint influences of Chinese [...] Read more.
Although Chinese parents’ use of psychological control has been linked with adolescent mental health, no studies to our knowledge have considered how the association may differ across gender dyads of parents and adolescents and minimal research has examined the joint influences of Chinese mothers’ and fathers’ use of psychological control on adolescent depressive symptoms. Participants included 3069 Chinese adolescents who rated their depressive symptoms as well as their mothers’ and fathers’ use of psychological control. Regression results revealed that the positive association between fathers’ psychological control and depressive symptoms was significant at low but not at high levels of mothers’ psychological control. Moreover, the positive association between fathers’ psychological control and depressive symptoms was significant for daughters but not for sons. Mothers’ psychological control was consistently positively associated with adolescent depressive symptoms. Findings from this study provide a more nuanced understanding of how gender dyads within Chinese families may influence the link between parental psychological control and adolescent depressive symptoms and highlight the importance for mental health programs to include fathers in their treatment plans when working with Chinese adolescents and their families. Full article
(This article belongs to the Special Issue Influence of Parenting in Adolescent and Young Adult Development)
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14 pages, 717 KB  
Article
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion
by Jessica Archer, Sheridan O’Donnell, Melissa Buckman, Nicole Bain and Himanshu Goel
Genes 2026, 17(4), 464; https://doi.org/10.3390/genes17040464 - 15 Apr 2026
Viewed by 197
Abstract
Background: TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report [...] Read more.
Background: TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report a three-generation family with a 22q13.1 deletion encompassing only exons 2–23 of TNRC6B. Clinical data were collected from medical records and family interviews, and the findings were compared with those of published cohorts. Results: Affected individuals presented with developmental delay, speech and language impairment, autism spectrum disorder, ADHD, oppositional defiant disorder, craniosynostosis, joint laxity, clinodactyly, and cardiac valve anomalies. The father and paternal grandmother had learning difficulties and neurobehavioral features, while the proband exhibited a more severe phenotype. Conclusions: This report expands the phenotypic spectrum of TNRC6B-related neurodevelopmental disorder, highlighting craniosynostosis, joint and connective tissue features, and cardiac involvement. Our findings also underscore variable expressivity across generations and emphasise the relevance of both copy-number and sequence variants in TNRC6B in patients with neurodevelopmental disorders. Full article
(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)
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24 pages, 10533 KB  
Article
Revealing the Unique Themes in Parent–Child Shared Book Reading Behaviors: A Systematic Review of Chinese and English Research 2005–2024
by Junnan Zhou, Jingyi Lei, Shuang Chao and Chenyi Zhang
Behav. Sci. 2026, 16(4), 581; https://doi.org/10.3390/bs16040581 - 13 Apr 2026
Viewed by 371
Abstract
This study provides a systematic review of research hotspots and trends in the field of parent–child reading, covering the period from 2005 to 2024, based on data retrieved from the China National Knowledge Infrastructure (CNKI) and the Web of Science (WOS). The results [...] Read more.
This study provides a systematic review of research hotspots and trends in the field of parent–child reading, covering the period from 2005 to 2024, based on data retrieved from the China National Knowledge Infrastructure (CNKI) and the Web of Science (WOS). The results indicate that both Chinese- and English-context research on parent–child reading focus on the family literacy environment, the impact of parent–child reading on child development, social support systems, and educational equity. Chinese research places greater emphasis on family reading, family–kindergarten collaboration, and father involvement. This research mainly examines parental guidance strategies and pays particular attention to current practices, especially in rural areas. It highlights the role of fathers in reading, with picture books being the most commonly used reading materials. In contrast, English-context research focuses more on language development and early literacy, with particular emphasis on the development of children’s literacy skills and school readiness. Greater attention is also given to multicultural and minority groups, the role of mothers in reading is more frequently emphasized, and the reading materials are predominantly storybooks and wordless books. Research in both Chinese and English contexts reveals that parent–child reading interactions serve as a channel for the transmission of cultural values, leading to distinct developmental priorities for children. These differences profoundly reflect the systematic influence of sociocultural logics on parental reading behaviors and related research. This analysis provides an empirical foundation for future international collaboration in cross-cultural research. Full article
(This article belongs to the Special Issue Children’s Cognitive Development in Social and Cultural Contexts)
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12 pages, 1529 KB  
Article
Persistent Sexual and Psychological Symptoms After Finasteride Discontinuation: A Cross-Sectional Observational Study
by Paweł Jędrzejczyk, Tomasz Ząbkowski, Jarosław Ratajski, Kamil Ciechan, Tomasz W. Kaminski, Patryk Uciechowski and Tomasz Syryło
J. Clin. Med. 2026, 15(8), 2947; https://doi.org/10.3390/jcm15082947 - 13 Apr 2026
Viewed by 406
Abstract
Background: Persistent sexual and psychological symptoms after finasteride discontinuation have been reported; however, factors associated with symptom severity remain insufficiently characterized. Methods: This cross-sectional study included 129 adult men with prior finasteride exposure for male pattern hair loss or benign prostatic hyperplasia. Sexual [...] Read more.
Background: Persistent sexual and psychological symptoms after finasteride discontinuation have been reported; however, factors associated with symptom severity remain insufficiently characterized. Methods: This cross-sectional study included 129 adult men with prior finasteride exposure for male pattern hair loss or benign prostatic hyperplasia. Sexual function, depressive symptoms, and anxiety were assessed using the International Index of Erectile Function (IIEF), Patient Health Questionnaire-9 (PHQ-9), and Generalized Anxiety Disorder-7 (GAD-7), respectively. Associations between clinical variables (age, treatment duration, cumulative exposure, and indication) and symptom severity were evaluated using univariate and multivariable regression analyses. Results: The median treatment duration was 24 months (IQR: 12.5–36), and the median time from discontinuation to evaluation was 8 months (IQR: 1–17). Erectile function remained stable over time (mean IIEF: 15.2 ± 0.46 at baseline vs. 15.4 ± 0.47 at 6 months). Depressive symptoms decreased from 12.4 ± 0.41 to 9.1 ± 0.41, and anxiety scores from 3.29 ± 0.23 to 2.54 ± 0.20 over the same period, without normalization in most patients. In multivariable analyses, higher cumulative exposure and older age were independently associated with lower IIEF scores and higher PHQ-9 and GAD-7 scores. Conclusions: In this symptomatic cohort, greater cumulative finasteride exposure and older age were associated with more severe sexual and psychological symptoms after treatment discontinuation. These findings highlight the need for prospective studies to better define risk factors and long-term outcomes. Full article
(This article belongs to the Section Nephrology & Urology)
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18 pages, 277 KB  
Article
Gender Disparities in Healthcare Utilization and Expenditures Among Single-Parent Households in Korea
by ShinYoung Kim and Jinhyung Lee
Healthcare 2026, 14(8), 976; https://doi.org/10.3390/healthcare14080976 - 8 Apr 2026
Viewed by 260
Abstract
Background/Objectives: This study examines gender differences in healthcare utilization and financial burden across family structures under Korea’s near-universal health insurance system. Methods: Using 2010–2018 Korea Health Panel data, we applied a two-part model to estimate initiation of care, conditional utilization, and [...] Read more.
Background/Objectives: This study examines gender differences in healthcare utilization and financial burden across family structures under Korea’s near-universal health insurance system. Methods: Using 2010–2018 Korea Health Panel data, we applied a two-part model to estimate initiation of care, conditional utilization, and expected out-of-pocket expenditures. Results: Single fathers were less likely to initiate care, whereas single mothers had higher unmet needs and substantially greater conditional and expected out-of-pocket spending, with expected expenditures approximately 46% higher than those of two-parent households. Conclusions: We document stage-specific disparities in healthcare utilization and financial burden across family structures even under near-universal coverage, indicating the need for policies that strengthen both access and financial protection for single-parent households. Full article
(This article belongs to the Section Healthcare and Sustainability)
15 pages, 4255 KB  
Article
Visualizing the Magnificat: Μary and the Attribute of the Book in Early Christian and Medieval Art
by Elena Papastavrou
Religions 2026, 17(4), 461; https://doi.org/10.3390/rel17040461 - 8 Apr 2026
Viewed by 350
Abstract
This paper examines the iconography of the Mother of God holding a book in Early Christian and Medieval art, focusing on representations in which a book or scroll functions as an attribute of the Virgin Mary. Particular attention is given to scenes depicting [...] Read more.
This paper examines the iconography of the Mother of God holding a book in Early Christian and Medieval art, focusing on representations in which a book or scroll functions as an attribute of the Virgin Mary. Particular attention is given to scenes depicting Mary in relation to the Christ Child, Christ Pantocrator, and the Magnificat. The study explores the symbolic significance of the book and scroll through the textual tradition of the Church Fathers. Adopting the methodological approach to the iconographical structure developed by André Grabar, the paper centers on three interconnected case studies. First, it offers a close re-examination of a Marian scene on the ivory relief of the Werden casket (9th c.) of which the meaning is hard to understand. Second, it analyzes the depiction of the Mother of God in the vault of the crypt of Epiphanius at San Vincenzo al Volturno (9th c.), with particular emphasis on motifs that associate the image with the theme of Mary’s Triumph. Finally, it considers a fresco of Mary and Christ enthroned from the Egyptian monastery of Deir al-Suryan (10th c.), treating these works as semantically and conceptually related. Through this comparative analysis, the paper advances several interpretations of the Magnificat as articulated in Early Christian visual culture and developed in later periods with the contribution of the Byzantine theology. Given the well-established influence of Early Christian art on both the Carolingian Renaissance in the West and the Byzantine East, the shared iconographical details identified here—both formal and conceptual—are understood as deriving from a common visual tradition rooted in Antiquity. Full article
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11 pages, 238 KB  
Article
Parenting and Love Styles: A Cross-National Study of Angolan and Italian Emerging Adults
by Alessandra Fermani, Carla Canestrari, Ramona Bongelli, Gonzalo Del Moral Arroyo and Manuel Teresi
Behav. Sci. 2026, 16(4), 538; https://doi.org/10.3390/bs16040538 - 3 Apr 2026
Viewed by 626
Abstract
The present study examined how parental attachment and cultural background shape love styles in emerging adulthood. Drawing on attachment theory and cross-cultural perspectives, we investigated whether gender, attachment to mother and father, and nationality (Italian vs. Angolan) predicted the development of love styles [...] Read more.
The present study examined how parental attachment and cultural background shape love styles in emerging adulthood. Drawing on attachment theory and cross-cultural perspectives, we investigated whether gender, attachment to mother and father, and nationality (Italian vs. Angolan) predicted the development of love styles in 370 young adults. Participants completed validated measures of parental attachment (IPPA) and love attitudes (LAS). Hierarchical regression analyses revealed a differentiated pattern across love styles. Emotionally detached relational styles (Ludus) were significantly predicted by gender, paternal attachment, and nationality, with higher levels reported by men, those with lower paternal attachment, and Angolan participants. While Storge showed no significant associations, passionate love expression (Eros) was robustly predicted by nationality, with Italian participants reporting higher levels of passion in love. Results suggest that while paternal attachment serves as a critical developmental anchor in preventing Ludus, the cultural macrosystem remains the primary architect of Eros. These findings call for culturally attuned clinical and educational interventions that differentiate between early relational deficits and normative cultural variations in intimacy. Full article
(This article belongs to the Section Social Psychology)
21 pages, 373 KB  
Article
Holy Mary of the Snows: A Roman Miracle Known in Alfonso X’s Kingdom of Castile and Leon
by Lesley Karen Twomey
Religions 2026, 17(4), 425; https://doi.org/10.3390/rel17040425 - 31 Mar 2026
Viewed by 321
Abstract
This article addresses Alfonso’s miracle about a vision of the Virgin to the Pope and Emperor which foretold the snow which was to fall in August in Rome. Little has been written about the feast of Holy Mary of the Snows with regard [...] Read more.
This article addresses Alfonso’s miracle about a vision of the Virgin to the Pope and Emperor which foretold the snow which was to fall in August in Rome. Little has been written about the feast of Holy Mary of the Snows with regard to the Cantigas de Santa Maria (CSM), the Marian miracle collection compiled by Alfonso X, King of Castile and Leon. However, the feast of Holy Mary of the Snows begins to appear in Castilian and Leonese breviaries from the very beginning of the fourteenth century, shortly after the death of Alfonso in 1284. Comparing the near-contemporary versions of the miracle reveals that Alfonso’s version of the miracle foregrounds the relationship of the Pope and Emperor, whereas the liturgical versions include the vision of the Pope as well as of the Patrician John and his wife. This article concludes that Alfonso, seeking to promote his imperial ambitions, may have brought this miracle and others back to Castile. No trace of the miracle exists in the kingdom before Alfonso’s CSM. Alfonso sought to emphasize the collaboration of Pope and Emperor which suited his purpose. The foundation of the Basilica dedicated to the Virgin in Rome paralleled the cathedral founded in the city of Seville, recently conquered by his father. Full article
16 pages, 252 KB  
Article
Experiences with an Advance Care Planning Intervention for Children with Life-Limiting Conditions: A Qualitative Study of Families and Clinicians Using the IMplementing Pediatric Advance Care Planning Toolkit
by Jurrianne C. Fahner, Johannes J. M. van Delden, Judith C. Rietjens, Agnes van der Heide and Marijke C. Kars
Children 2026, 13(4), 486; https://doi.org/10.3390/children13040486 - 31 Mar 2026
Viewed by 290
Abstract
Background: Advance care planning is a strategy to define goals and preferences for future care and treatment aligned to patient values. The IMplementing Pediatric Advance Care Planning Toolkit (IMPACT) provides a holistic, family-oriented approach to involve families of children with life-limiting conditions and [...] Read more.
Background: Advance care planning is a strategy to define goals and preferences for future care and treatment aligned to patient values. The IMplementing Pediatric Advance Care Planning Toolkit (IMPACT) provides a holistic, family-oriented approach to involve families of children with life-limiting conditions and their clinicians in ACP, starting early in disease trajectories. This study explores how children with life-limiting conditions, and their parents and clinicians experience ACP conversations based on IMPACT. Methods: A multicenter, qualitative interview study using inductive thematic analysis was conducted. A total of 27 cases of children with life-limiting conditions were included in the study from February 2019 to December 2019. Interviews with 18 clinicians, 24 mothers, 8 fathers and 3 children were conducted. Results: Clinicians and families of children with life-limiting conditions valued to be involved in ACP conversations based on IMPACT. Although it confronted both parents and clinicians with the impact of caring for a child with a life-limiting condition, sharing the family’s narrative resulted in a stronger relation between families and clinicians. This relation was experienced as a good foundation to share values and preferences for future care and treatment. However, a shared understanding of goals of future care, and treatment based on the conversation was experienced to a limited extent. Conclusions: ACP conversations based on IMPACT facilitated family-centered conversations, and were valued by families of children with life-limiting conditions and their clinicians. The meaning of the family’s narrative in relation to goals and preferences for future care and treatment needs ongoing conversations and coaching on the job of clinicians initiating those conversations. Full article
16 pages, 2633 KB  
Article
A Korean Captive-Turned-Monk (Nichiyō) in Japan and Longing for Family Reunion in the 1620s
by Nam-lin Hur
Humanities 2026, 15(4), 53; https://doi.org/10.3390/h15040053 - 28 Mar 2026
Viewed by 281
Abstract
Honmyōji Temple in Kumamoto preserves copies of four letters exchanged in the early 1620s between a father, Yŏ Ch’ŏn’gap, in Chosŏn, and his son, Yŏ Taenam (Nichiyō), in Japan, although one of the letters was never delivered. Both father and son were abducted [...] Read more.
Honmyōji Temple in Kumamoto preserves copies of four letters exchanged in the early 1620s between a father, Yŏ Ch’ŏn’gap, in Chosŏn, and his son, Yŏ Taenam (Nichiyō), in Japan, although one of the letters was never delivered. Both father and son were abducted to Japan during the Imjin War (1592–1598), but while the father was able to return home, the son was not. In the late 1610s, upon learning that his son, now the abbot of Honmyōji, was alive in Kumamoto, the father sought to contact him by letter. His efforts eventually succeeded, leading to an exchange of correspondence. These four letters, the only known instance of overseas communication between family members separated by Japan’s invasion of Chosŏn, provide valuable insight into the tragic fate of a family divided by war. Drawing on these documents, this article examines how a Korean boy was abducted during the Imjin War and later became the abbot of his captor’s temple. It also explores the father’s efforts to bring his son home and the reasons their hopes for reunion were never realized. Together, the letters bear witness to the dramatic transformation in the life of a young Korean boy who became a victim of war. Full article
(This article belongs to the Section History in the Humanities)
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21 pages, 275 KB  
Article
“People Said My Father Was Supposedly Polish, but It Made No Difference to Him”—A Vernacular Perspective on National and Religious Identifications in the Subcarpathian Countryside Before and After World War II
by Magdalena Lubańska
Religions 2026, 17(4), 415; https://doi.org/10.3390/rel17040415 - 25 Mar 2026
Viewed by 350
Abstract
In this article I analyse the period of social and political upheaval faced by mixed Greek Catholic and Roman Catholic families living in the Subcarpathian countryside in the 1930s and 1940s. Focusing on a vernacular perspective often overlooked in nation-centric historiographies, I describe [...] Read more.
In this article I analyse the period of social and political upheaval faced by mixed Greek Catholic and Roman Catholic families living in the Subcarpathian countryside in the 1930s and 1940s. Focusing on a vernacular perspective often overlooked in nation-centric historiographies, I describe the nature of neighbourly relations and collective identity both before and after World War II. I pay particular attention to the ambiguous connections between religious and ethnic identities before the war, highlighting phenomena such as bi-ritualism and diglossia. I then juxtapose this with the specific circumstances of 1944–1945, when villagers were frequently forced to choose their ethnic identity under the threat of Polish and Ukrainian nationalist guerrillas, especially active during that time. Building on a rich body of ethnographic material, I argue that choices of ethnic identity during a “state of exception” were often unstable and shaped primarily by the imperative of survival and other pragmatic considerations. However, I also present tragic stories of mixed families, where the ethnic choices made by some individuals were rooted in their deeply held convictions. Additionally, I reference scholars who are re-evaluating and complicating the relationship between nationalism and religious identity in rural European communities living in border areas, including Norman Davies, Kate Brown, Max Bergholz, and Jarosław Syrnyk. Full article
(This article belongs to the Special Issue Nationalisms and Religious Identities—2nd Edition)
9 pages, 982 KB  
Case Report
A Pediatric Case of Neurodevelopmental Delay with a Familial H4C11 Variant: Clinical Course and Diagnostic Challenges
by Elena Tudorache, Andreea Giurgiuveanu, Emilia Severin, Irina-Ioana Iordănescu and Mihaela Anca Bulf
J. Clin. Med. 2026, 15(7), 2505; https://doi.org/10.3390/jcm15072505 - 25 Mar 2026
Viewed by 368
Abstract
Background: Tessadori–Bicknell–van Haaften syndrome (OMIM #619759) is a rare autosomal dominant neurodevelopmental disorder associated with heterozygous variants in genes encoding histone H4 proteins. The condition is characterized by global developmental delay, craniofacial dysmorphism, hypotrophy, intellectual disability, and ophthalmologic anomalies. More than 30 individuals [...] Read more.
Background: Tessadori–Bicknell–van Haaften syndrome (OMIM #619759) is a rare autosomal dominant neurodevelopmental disorder associated with heterozygous variants in genes encoding histone H4 proteins. The condition is characterized by global developmental delay, craniofacial dysmorphism, hypotrophy, intellectual disability, and ophthalmologic anomalies. More than 30 individuals with variants in histone H4 genes have been reported to date, reflecting the genetic heterogeneity of this emerging disorder. According to OMIM, the association between the H4C11 gene and Tessadori–Bicknell–van Haaften syndrome 2 is currently considered provisional. Methods: We report the case of a 5-year-old female presenting with expressive language delay, social interaction difficulties, and craniofacial features including microcephaly, exophthalmos, and periorbital fullness (“puffy eyes”). Family history revealed two sisters with borderline intellectual functioning who have not undergone genetic testing. The patient’s father carried the same heterozygous H4C11 variant (c.97C > T), while maternal testing was negative. Results: Neuropsychological evaluation revealed borderline intellectual functioning (IQ 73 at first assessment, 85 at follow-up) with persistent expressive language impairment. Ophthalmologic examination confirmed congenital exophthalmos and hypermetropic astigmatism. Laboratory investigations showed low ferritin and mildly elevated TSH levels, which may have contributed to the observed growth delay. At follow-up, the patient showed an increase in IQ score (73 to 85); however, test–retest variability cannot be excluded. Conclusions: This case highlights the importance of careful clinical assessment and cautious interpretation of genetic findings in children with neurodevelopmental delay. Familial segregation of a variant of uncertain significance (VUS), in the absence of functional evidence, should be interpreted conservatively and integrated with detailed phenotypic evaluation to guide clinical management and follow-up. Full article
(This article belongs to the Section Clinical Pediatrics)
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12 pages, 276 KB  
Article
Association Between Physical Activity and Serum 25-Hydroxyvitamin D Levels Among Adolescents in Northern Sudan: A School-Based Cross-Sectional Study
by Ahmed A. Hassan, Mustafa I. Elbashir, Abdullah Al-Nafeesah, Ashwaq AlEed and Ishag Adam
Nutrients 2026, 18(6), 986; https://doi.org/10.3390/nu18060986 - 20 Mar 2026
Viewed by 440
Abstract
Background: The association between physical activity and vitamin D status is not yet fully understood. This study aims to investigate the prevalence of physical inactivity and its associated factors, including serum 25-hydroxyvitamin D (25[OH]D) concentration, among adolescents in Northern Sudan. Methods: A school-based [...] Read more.
Background: The association between physical activity and vitamin D status is not yet fully understood. This study aims to investigate the prevalence of physical inactivity and its associated factors, including serum 25-hydroxyvitamin D (25[OH]D) concentration, among adolescents in Northern Sudan. Methods: A school-based cross-sectional study was conducted in Almatamah, River Nile State, Sudan, and a questionnaire was used to collect sociodemographic data. Standardized methods were used to measure physical activity and serum 25(OH)D levels. Physical activity was expressed as metabolic equivalent minutes per week (MET-min/week). A multivariate binary regression was performed. Results: Three hundred and thirteen adolescents [159 (50.8%) males and 154 (49.2%) females] were enrolled in the study. The median (interquartile, IQR) values for age, 25(OH)D, and physical activity were 15.1 (14.0–16.2) years, 20.2 (9.6–31.2) ng/mL, and 1080 (495–3360) MET-min/week, respectively. The median (IQR) physical activity score was higher in males than in females [3287.5 (1680.0–4659.0) MET-min/week vs. 495.0 (314.3–990.0) MET-min/week]. Of the enrolled adolescents, 220 (70.3%) had inadequate physical activity levels (<3000 MET-min/week). Serum 25(OH)D level was significantly lower in adolescents with inadequate physical activity than in those with adequate physical activity levels [17.7 (7.8–28.0) ng/mL vs. 26.4 (17.3–36.8) ng/mL]. In the multivariable binary analysis, female sex (adjusted odds ratio [AOR]: 35.0; 95% CI: 13.89–88.08), a lower paternal education level (AOR: 2.812; 95% CI: 1.39–5.70), and having a skilled father (AOR: 2.08; 95% CI: 1.05–4.12) were factors associated with inadequate physical activity among adolescents, whereas 25(OH)D levels were inversely associated with insufficient physical activity (AOR: 0.97; 95% CI: 0.95–0.99). Conclusions: Interventions are needed to address the high level of physical inactivity among adolescents in Northern Sudan, particularly among girls. Programs that promote physical activity both at home and school help ensure that children and adolescents maintain adequate physical activity and 25(OH)D levels. Full article
(This article belongs to the Section Sports Nutrition)
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