Search Results (315)

The image represents the post-mortem heart of a 28-year-old female patient, diagnosed in childhood with complete common atrioventricular canal defect. At time of diagnosis, the family refused surgery, as did the patient during her adulthood. Despite being advised against pregnancy, she became pregnant. On presentation to hospital, she was cyanotic, with clubbed fingers, and hemodynamically unstable, in sinus rhythm, with Eisenmenger syndrome and respiratory failure partially responsive to oxygen. During pregnancy, owing to systemic vasodilatation, the right-to-left shunt is increased, with more severe cyanosis and low cardiac output. Echocardiography revealed the complete common atrioventricular canal defect, with a single atrioventricular valve with severe regurgitation, right ventricular hypertrophy, pulmonary artery dilatation, severe pulmonary hypertension and a hypoplastic left ventricle. The gestational age at delivery was 38 weeks. She gave birth to a healthy boy, with an Apgar score of 10. The vaginal delivery was chosen by an interdisciplinary team. The cesarean delivery and the anesthesia were considered too risky compared to vaginal delivery. Three days later, the patient died. The autopsy revealed hepatomegaly, a greatly hypertrophied right ventricle with a purplish clot ascending the dilated pulmonary arteries and a hypoplastic left ventricle with a narrowed chamber. A single valve was observed between the atria and ventricles, making all four heart chambers communicate, also insufficiently developed interventricular septum and its congenital absence in the cranial third. These morphological changes indicate the complete common atrioventricular canal defect, with right ventricular dominance, which is a rare and impressive malformation that requires mandatory treatment in early childhood in order for the condition to be solved. Full article

Variants in ELAC2, a gene encoding the mitochondrial RNase Z enzyme essential for mitochondrial tRNA processing, have been associated with severe pediatric-onset mitochondrial dysfunction, primarily presenting with developmental delay, hypertrophic cardiomyopathy (HCM), and lactic-acidosis. We hereby report the case of a 25-year-old young woman presenting with dilated cardiomyopathy (DCM) and peripheral sensorimotor polyneuropathy, harboring a homozygous variant in ELAC2. The same variant has been reported only once so far in a case of severe infantile-onset form of HCM and mitochondrial respiratory chain dysfunction, with in vitro data showing a moderate reduction in the RNase Z activity and supporting the current classification as C4 according to the American College of Medical Genetics (ACMG) criteria (PS3, PM2, PM3, PP4). Our extensive clinical, imaging, histological, and genetic investigations support a causal link between the identified variant and the patient’s phenotype, despite the fact that the latter might be considered atypical according to the current state of knowledge. A detailed review of the existing literature on ELAC2-related disease is also provided, highlighting the molecular mechanisms underlying tRNA maturation, mitochondrial dysfunction, and the variable phenotypic expression. Our case further expands the clinical spectrum of ELAC2-related cardiomyopathies to include a relatively late onset in young adulthood and underscores the importance of comprehensive genetic testing in unexplained cardiomyopathies with multisystem involvement. Full article

Background: Chronic stress in childhood and adolescence leads to excessive cortisol secretion, adipokines production and obesity with all the negative mental and physical effects on the health of individuals and adulthood. Objectives: The aim of the present non-randomized controlled trial was to investigate the effect of a stress management protocol with diaphragmatic breathing (DB) and physiotherapy exercise on stress, body composition, cardiorespiratory and metabolic markers of children and adolescents with morbid obesity. Methods: The study included 31 children and adolescents (5–18 years old) with morbid obesity (22 in the intervention arm and 9 controls). All participants completed anxiety questionnaires and a self-perception scale. Forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), blood pressure (BP) and SpO₂ were measured. Fasting glucose, uric acid, triglycerides, HbA1c, (AST/SGOT), (ALT/SGPT), HDL, LDL, insulin, ACTH, cortisol, HOMA-IR, 17-OH, S-DHEA, SHBG were assessed, and anthropometric measurements were also performed. Results: In the intervention group, 4 months after the treatment, an improvement was noted in the BMI, BMI z-score, waist-to-height ratio, FEV1, SpO₂, pulse and systolic BP. HDL increased, ALT/SGPT and insulin resistance improved. Positive changes were observed in temporary and permanent stress and self-esteem of children in the intervention group, including anxiety, self-perception, physical appearance, etc. Conclusions: A combined exercise and DB protocol has a positive effect on stress, by improving body composition, reducing insulin resistance, and ameliorating physical and mental health and quality of life of pediatric patients with morbid obesity. Full article

Background and Clinical Significance: Juvenile ossifying fibroma (JOF) is a rare, benign, but locally aggressive fibro-osseous neoplasm that primarily affects the craniofacial skeleton of children and adolescents. Early surgical intervention is often required due to the lesion’s rapid growth and potential for significant facial deformity. Long-term functional and esthetic rehabilitation following maxillary resection in early childhood remains a clinical challenge. Case Presentation: This case reports a unique long-term follow-up of a 22-year-old female patient who underwent partial maxillary resection at the age of five due to JOF. Initial reconstructive efforts failed, necessitating a removable prosthesis to restore function and appearance. The patient experienced persistent self-consciousness and social withdrawal during adolescence, attributed to altered facial esthetics and repeated surgical disappointment. Nevertheless, prosthetic rehabilitation significantly improved mastication, phonetics, facial symmetry, and psychological well-being. Conclusions: The enduring psychosocial and functional impact of early maxillary resection for JOF and the pivotal role of prosthodontic management in long term rehabilitation are highlighted. A multidisciplinary approach that includes psychological support is suggested. This case report is among the few reports documenting long-term prosthetic outcomes for pediatric JOF patients extending into adulthood. Full article

Background/Objectives: Research regarding the relationship between insomnia symptoms and self-regulated eating behaviors in Hispanic populations is limited, particularly that pertaining to emerging adulthood (18–25 years old) and the potential role of cultural factors. The present study explored the association between insomnia symptoms and self-regulated eating behaviors in a Hispanic emerging adult sample, as well as the role of acculturative stress. Methods: Participants who identified as Hispanic between the ages of 18–25 years old and were English-speaking completed an online survey assessing insomnia symptoms, self-regulated eating behavior, and acculturative stress. Results: In a multiple regression analysis, insomnia symptoms emerged as a significant predictor of self-regulated eating behavior such that Hispanic individuals with increased insomnia symptoms were more likely to report low self-regulated eating behavior. Furthermore, it was found that acculturative stress partially mediated the association between insomnia symptoms and self-regulated eating behavior. Conclusions: Insomnia symptoms are a risk for problematic eating behaviors in Hispanic emerging adults. Identifying other early risk factors, including culturally unique risks like acculturative stress, may be important for the development of tailored early intervention efforts to reduce problematic eating patterns. Full article

Background: Longitudinal studies on cognitive disengagement syndrome (CDS) are scarce, and only one study has investigated the trajectory of CDS from childhood to early adulthood. Given this, the aims of the present study were to explore, with a quasi-longitudinal design, (1) whether scores for childhood CDS were associated with scores for CDS during early adulthood; (2) whether childhood CDS scores were associated with childhood and adult scores for depression, anxiety, stress, and insomnia; (3) whether childhood CDS, depression, anxiety, stress, and insomnia and adult depression, anxiety, stress, and insomnia were independently associated with adult scores for CDS, and (4) whether childhood CDS scores were directly and indirectly associated with adult CDS scores via adult depression and stress in two conditional effect models. Methods: A total of 246 young adult students (mean age = 22.62; 56.3% females) participated in a cross-sectional and quasi-longitudinal study. The participants completed questionnaires assessing CDS (Adult Concentration Inventory; ACI), depression, anxiety, stress, and insomnia for the following two developmental periods: for the present time point as young adults and for a past time point, when they were about eight years old. To enable retrospective past recall, the participants undertook a standardized imagination exercise. Results: Childhood scores for CDS, depression, anxiety, stress, and insomnia were highly associated with adult scores for CDS, depression, anxiety, stress, and insomnia. In the regression model, higher childhood scores for CDS, depression, and anxiety and higher adult scores for depression, stress, and insomnia, but not adult anxiety, were strongly and independently associated with adult scores for CDS. In the two conditional effects models, childhood CDS was associated with adult CDS directly and indirectly via adult depression and adult stress. Conclusions: In this quasi-longitudinal study, childhood scores for CDS were associated with adult scores for CDS, suggesting a potentially stable trajectory of CDS from childhood to early adulthood. Further, the two conditional effects models suggested that childhood and adult CDS were both directly and indirectly associated via adult depression and stress. As such, symptoms of depression, anxiety, stress, and insomnia should be considered in conceptualizations of adult CDS. Next, given that standardized psychotherapeutic interventions for depression, stress, and insomnia are available, such interventions might also favorably impact CDS symptoms. These findings further underscore the importance of prospective longitudinal and intervention studies on adult CDS. Full article

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Background and Clinical Significance: Acquired myenteric hypoganglionosis is a rare dysmotility disorder that can present in childhood and adulthood, characterized by a reduced number of ganglion cells within Auerbach’s plexus. Due to the rarity of the pathology, few case reports of acquired myenteric hypoganglionosis in adolescents have been described. This case report explores the presentation, risk factors, and surgical complications associated with the ultimate diagnosis of myenteric hypoganglionosis. Case Presentation: We present a case of a 12-year-old male with a history of constipation and achalasia, presenting with constipation and abdominal distention, who underwent a colonoscopy, which was converted to an exploratory laparotomy with loop ileostomy creation due to persistent significant abdominal distention. This was complicated by colonic perforation, most likely secondary to stercoral colitis, requiring takeback to the operating room on postoperative day 11 for an exploratory laparotomy with bowel resection and mucous fistula creation. The patient was then referred to Boston Children’s Hospital for motility studies, which revealed poor colonic motility and plans to reassess motility in 1 year. Conclusions: Although rare, it is important to have high clinical suspicion for acquired myenteric hypoganglionosis in children, especially males, with severe constipation. Full article

Historical cross-sectional approaches examining cognitive aging consistently reveal a pattern of steady decline on nonverbal problem-solving, speeded tasks, and maintenance on verbal tasks. However, as measures developed and broadened the factor structure to align with Cattell–Horn–Carroll (CHC) theory, and age ranges were extended from 75 to 90 years, a more nuanced approach to cognitive aging emerged. The present study, using the Wechsler Adult Intelligence Scale, Fifth Edition (WAIS-5), examined the cognitive aging process through a cross-sectional approach. WAIS-5 normative sample data (aligned with the 2022 U.S. census) were obtained from the test publisher. The sample included adult participants aged 20–24 through 85–90 (n = 1660), which were mapped into 11 age groups. Using post-stratification weighting to control for educational attainment, cognitive decline was observed throughout aging; verbal skills were maintained longer than other abilities, while processing speed declined steadily and rapidly from young adulthood to old age. Working memory was vulnerable to the aging process but demonstrated slower patterns of decline than the other vulnerable abilities. Fluid reasoning and visual spatial skills (although aligning with separate CHC broad abilities theoretically) were strikingly similar in their pattern of decline across a person’s lifespan. Results are highly consistent with the large body of cross-sectional research conducted during the previous generation by Salthouse and his colleagues, as well as other teams of researchers. Full article

Background/Objectives: The male prepuce that covers the glans penis is richly innervated by low-threshold mechanoreceptors, which form cutaneous end-organ complexes (Meissner, Pacinian and Ruffini corpuscles) and mucous end-organ complexes (especially Krause-like corpuscles). The mechanosensory inputs from these formations are the beginning for spinal reflexes that regulate movements of intercourse and erection and, therefore, are required for sexual function. The study was aimed at analyzing the age-dependent changes in prepuce innervation. Methods: Here we used immunohistochemistry to investigate whether the innervation of the male prepuce undergoes age-dependent changes, analyzing subjects aged 4 months to 61 years. Results: Abundant Meissner corpuscles and Krause-like corpuscles were regularly found whose morphology, size, and topography were variable and were not correlated with age; however, Ruffini’s and Pacinian corpuscles were scarcely observed. The earliest evidence of Meissner corpuscles was observed at 4 months, and thereafter they undergo significant age-dependent variations in density. Until the age of 20 years increases progressively, remains stable until 40 years, and then the density decreases. Meissner’s corpuscle index paralleled that of density. Regarding Kause-like corpuscles already resemble the skin of 4-month-old subjects and from the age of 3 years they can be identified at all ages. Its density significantly increased until 10 years and then remained stable. Conclusions: Present results state that the mechanosensory innervation of the human foreskin reaches its maximum value around the age of 20, remains stable during adulthood and decreases with maturity. These findings contribute to a more complete understanding of foreskin innervation and add to the scientific knowledge base surrounding the potential harm of removing a richly innervated structure. Full article

The increasing frequency and intensity of extreme environmental phenomena mandate further actions to protect the most vulnerable groups, especially children. Traditionally, children have been excluded from conversations about disasters; however, this exclusion is reductive and perpetuates false ideas about children’s capacity to engage with safety information and materially manifest sustainable practices in their life. Such a reality is also impractical because early exposure through learning opportunities can yield engagement in sustainable development in adulthood. This research sought to improve understanding about children’s capacity to engage in DRR information. This study reviewed posters created by 7-year-old children at a primary school in the UK. These were produced as part of prior climate change workshops and included an illustration of a flood safety kit with items children would choose to have with them if there was an emergency (e.g., flooding event). Items included were counted and tallied to identify trends. The results demonstrated the capacity of children in this age group to select practically useful items for their safety in flooding emergencies. Based on findings, this study advocates for greater inclusion of children within disaster preparedness activities and the production of more tailored DRR learning opportunities to engage children within their school environment. Full article

Undernutrition affects thousands of children under five years old worldwide, and various factors are related to its onset, among which we highlight enteric infections and gastrointestinal barrier dysfunction. The cycle of intestinal infections and undernutrition has long-term consequences, such as cognitive deficits, poor growth, and metabolic diseases in adulthood. This review explores factors linked to childhood undernutrition, focusing on intestinal infections and markers of intestinal permeability that affect child development. This narrative review was conducted using Medline/PubMed, Web of Science, and Scopus, from July 2024 to March 2025. Studies involving children under five years old and addressing undernutrition, intestinal infections, or intestinal permeability markers were included. Exclusion criteria comprised studies without therapeutic focus, and books, case reports, or academic theses. No language restrictions were applied, and registration on global platforms was not required. Overall, the studies reported a close relationship between enteric pathogens, diarrheal and non-diarrheal stools, and undernutrition. Among the pathogens most frequently found in the feces of malnourished children were Shigella, enterotoxigenic Escherichia coli, enteroaggregative E. coli (EAEC), and Cryptosporidium. The studies also showed the relationship between gastrointestinal barrier function and undernutrition, with the deterioration of nutrient absorption and, consequently, repercussions on development, linear growth, and weight in children. Although the studies analyzed had different designs and heterogeneity in the age range of the studied children, it was possible to observe the relationship between the infection/undernutrition cycle. Future studies should optimize personalized nutrient-based therapies, assess long-term effects on gut health and growth, and explore the gut microbiome’s role in enteric infection susceptibility and undernutrition. Full article

Background and Clinical Significance: Cavum septum pellucidum (CSP) and cavum vergae (CV) are anatomical variations that may persist into childhood, adolescence, or adulthood. When these cavities become abnormally large, they are classified as cysts. The mechanism leading to expansion is poorly understood. Although rare, symptomatic CSP and CV cysts can present with a wide range of clinical manifestations. Case Presentation: A 20-year-old Caucasian male presented with progressively worsening symptoms over several months including persistent headaches and dizziness. Neurological evaluation showed no abnormalities, with intact cranial nerve function, normal muscle strength, and no signs of paresis. Imaging identified CSP and CV cysts causing obstructive hydrocephalus. MRI findings confirmed progressive cyst enlargement and obstruction of intraventricular foramen. The patient underwent neuroendoscopic fenestration of the cyst with resolution of both hydrocephalus and the symptoms. A CT and MRI scan of the brain performed 12 years before revealed a developmental variant, showing no evidence of cyst formation or ventricular enlargement and without hydrocephalus at that time. This case provides a rare opportunity to observe cyst growth dynamics over time. Conclusions: This case presents the importance of recognizing symptomatic CSP and CV cysts as rare but significant causes of obstructive hydrocephalus. The progression from a developmental variant to cyst formation over time illustrates the value of long-term imaging follow-up in such cases. Neuroendoscopic fenestration provided complete resolution of symptoms, demonstrating the effectiveness of surgical intervention in such cases. Full article

Background/Objectives: Prenatal hypoxia (PH) is a leading cause of nervous system disorders in early childhood and subsequently leads to a decline in the cognitive and mnemonic functions of the central nervous system (such as memory impairment, reduced learning ability, and information processing). It also increases anxiety and the risk of brain disorders in adulthood. Compensatory–adaptive mechanisms of the mother–placenta–fetus system, which enhance the fetus’s CNS resilience, are known, including the activation of endogenous neuroprotection in response to hypoxic brain injury through the pharmacological modulation of HSP₇₀. Methods: To evaluate the effect of HSP₇₀ modulators—Cerebrocurin, Angiolin, Tamoxifen, Glutaredoxin, Thiotriazoline, and HSF-1 (heat shock factor 1 protein), as well as Mildronate and Mexidol—on the motor skills, exploratory behaviors, psycho-emotional activities, learning, and memories of offspring after PH. Experimental PH was induced by daily intraperitoneal injections of sodium nitrite solution into pregnant female rats from the 16th to the 21st day of pregnancy at a dose of 50 mg/kg. The newborns received intraperitoneal injections of Angiolin (50 mg/kg), Thiotriazoline (50 mg/kg), Mexidol (100 mg/kg), Cerebrocurin (150 µL/kg), L-arginine (200 mg/kg), Glutaredoxin (200 µg/kg), HSF-1 (50 mg/kg), or Mildronate (50 mg/kg) for 30 days. At 1 month, the rats were tested in the open field test, and at 2 months, they were trained and tested for working and spatial memory in the radial maze. Results: Modeling PH led to persistent impairments in exploratory activity, psycho-emotional behavior, and a decrease in the cognitive–mnestic functions of the CNS. It was found that Angiolin and Cerebrocurin had the most pronounced effects on the indicators of exploratory activity and psycho-emotional status in 1-month-old animals after PH. They also exhibited the most significant cognitive-enhancing and memory-supporting effects during the training and evaluation of skill retention in the maze in 2-month-old offspring after PH. Conclusions: for the first time, we obtained experimental data on the effects of HSP₇₀ modulators on exploratory activity, psycho-emotional behavior, and cognitive–mnestic functions of the central nervous system in offspring following intrauterine hypoxia. Based on the results of this study, we identified the pharmacological agents Angiolin and Cerebrocurin as promising neuroprotective agents after perinatal hypoxia. Full article

In industrialized societies, emerging adulthood is a unique developmental stage between adolescence and adulthood (i.e., 18 to 29 years old), where individuals continuously encounter decisions that have important consequences that unfold over time (i.e., intertemporal decisions). The present review paper had three aims. The first aim was to provide a brief overview of emerging adulthood as a developmental stage and present a rationale for the importance of understanding the relationship between temporal self-perceptions and longitudinal outcomes in emerging adults. The second aim was to review evidence for a proposed model demonstrating the connection between three domains of temporal self-perceptions—future self-perceptions, longitudinal changes in future self-perceptions, and continuity between temporal selves (i.e., past-to-future)—, self-regulatory processes, and positive downstream consequences (e.g., psychological well-being and academic success) in emerging adults. Specifically, this targeted review sought to highlight research exploring the longitudinal processes in these relationships (e.g., changes in temporal self-perceptions over time and the relationship between temporal self-perceptions and longitudinal outcomes) and testing how these relationships function amidst a large-scale challenge (i.e., the COVID-19 pandemic). Given the heterogeneity of emerging adults as a demographic group, the third aim was to review research exploring demographic factors (e.g., gender and socioeconomic status) as a potential moderator of these relationships. The review provided support for the proposed model, highlighting the importance of perceptions of temporal selves in predicting a range of positive long-term outcomes, including self-regulatory processes, psychological well-being, and achievement. Additionally, the review demonstrated preliminary support for the significance of crucial demographic factors (e.g., gender and socioeconomic status) in understanding the nature of these relationships in emerging adults. Finally, the review suggests future directions to extend this growing literature and broaden the understanding of these relationships. Full article