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Background: Spinal muscular atrophy (SMA) is a devastating neuromuscular condition resulting from the loss of the survival motor neuron 1 (SMN1) gene. Precise genetic testing has become essential after the authorization of several potent medications. To achieve this objective, the use of dried blood spot (DBS) has assured convenient and extensive testing from a distance. Nevertheless, developing countries such as Indonesia sometimes lack access to standard filter papers like FTA or Guthrie cards for DBS processing. Here, we aim to develop a cellulose-based card as an alternative filter paper for DBS preparation suitable for the genetic testing of SMA including but not limited to a direct polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and multiplex allele-specific amplification (multi-ASA). Results: An in-house paper was developed from a 180 gsm cellulose-based paper and was used for DBS preparation. The performance of dried blood spotted on the cellulose-based card (DBSc) was compared to pure genomic DNA (gDNA) isolate and dried blood spotted on FTA cards (DBSf) for genetic testing. The results of the genetic testing of our cellulose-based card were completely matched with those of gDNA and DBSf in both direct PCR-RFLP and Multi-ASA to separate SMN1 from SMN2. In addition, after three months of storing, the DBSc continued to exhibit a clear result, suggesting its high stability for DNA storage. Conclusion: Our cellulose-based card has the potential to be used for DBS carrier and for further genetic testing using PCR. Our findings can assist physicians in sending DBS samples from SMA suspicion cases to genetic testing centers, thereby preventing diagnosis delay or misdiagnosis. [ABSTRACT FROM AUTHOR]

Background/Objectives: Over the past decade, there has been a significant increase in distress among children, as well as in the long-term effects of childhood stress. Parents, particularly mothers, are the most important social partners for preschool-aged children and may help protect them from stress. The current study aims to investigate how parental practices impact children's perceived stress in relation to their mothers' stress. Methods: The sample comprised 346 mothers of preschoolers aged 20 to 48 years (M = 34.39, SD = 6.16). Participants completed an online survey that included the Perceived Stress Scale for Parents of Preschoolers, the Perceived Stress Scale, the Alabama Parenting Questionnaire—Preschool Revision, and questions regarding their socio-demographic characteristics. Results: Punitive parenting contributed positively, while positive parenting contributed negatively to children's distress. When mothers' perceived stress was taken into account, positive parenting lost its significance. Punitive parenting and maternal perceived stress were the only positive predictors of child distress. Conclusions: Stress in mothers may lead to a decrease in their involvement in the upbringing and parenting of preschoolers, potentially contributing to increased stress levels in children. Intervention programs aimed at reducing preschoolers' stress should incorporate classes for parents that also could be focused on stress regulation for parents and training in positive parenting practices. [ABSTRACT FROM AUTHOR]

We explore the mechanism that can explain the production of lepton asymmetry and two types of sterile neutrino dark matter. The first type involves heavy sterile dark matter produced directly by the decay of Q-balls which are formed by first-order phase transition in the early universe; the second consists of keV sterile neutrino dark matter, produced resonantly with the aid of lepton asymmetry from Q-ball decay. Besides, gravitational waves from cosmic strings generated during the phase transition process could be detected at future interferometers. [ABSTRACT FROM AUTHOR]

Plasma membranes appear as deformable systems wherein molecules are free to move and diffuse giving rise to condensed microdomains (composed of ordered lipids, transmembrane proteins and cholesterol) surrounded by disordered lipid molecules. Such denser and thicker regions, namely lipid rafts, are important communication hubs for cells. Indeed, recent experiments revealed how the most of active signaling proteins co-localize on such domains, thereby intensifying the biochemical trafficking of substances. From a material standpoint, it is reasonable to assume the bilayer as a visco-elastic body accounting for both in-plane fluidity and elasticity. Consequently, lipid rafts contribute to membrane heterogeneity by typically exhibiting higher stiffness and viscosity and by locally altering the bilayer dynamics and proteins activity. A chemo-mechanical model of lipid bilayer coupled with interspecific dynamics among the resident species (typically transmembrane receptors and trasporters) has been recently formulated to explain and predict how proteins regulate the dynamic heterogeneity of membrane. However, the explicit inclusion of the membrane viscosity in the model was not considered. To this aim, the present work enriches the constitutive description of the bilayer by modeling its visco-elastic behavior. This is done through a strain-level dependent viscosity able to theoretically trace back the alteration of membrane fluidity experimentally observed in lipid phase transitions. This provides new insights into how the quasi-solid and fluid components of lipid membrane response interact with the evolution of resident proteins by affecting the activity of raft domains, with effects on cell mechano-signaling. [ABSTRACT FROM AUTHOR]

The most prevalent rare genetic disease affecting young individuals is spinal muscular atrophy (SMA), which is caused by a loss-of-function mutation in the telomeric gene survival motor neuron (SMN) 1. The high heterogeneity of the SMA pathophysiology is determined by the number of copies of SMN2, a separate centromeric gene that can transcribe for the same protein, although it is expressed at a slower rate. SMA affects motor neurons. However, a variety of different tissues and organs may also be affected depending on the severity of the condition. Novel pharmacological treatments, such as Spinraza, Onasemnogene abeparvovec-xioi, and Evrysdi, are considered to be disease modifiers because their use can change the phenotypes of the patients. Since oxidative stress has been reported in SMA-affected cells, we studied the impact of antioxidant therapy on neural stem cells (NSCs) that have the potential to differentiate into motor neurons. Antioxidants can act through various pathways; for example, some of them exert their function through nuclear factor (erythroid-derived 2)-like 2 (NRF2). We found that curcumin is able to induce positive effects in healthy and SMA-affected NSCs by activating the nuclear translocation of NRF2, which may use a different mechanism than canonical redox regulation through the antioxidant-response elements and the production of antioxidant molecules. [ABSTRACT FROM AUTHOR]

Absolute pitch (AP) refers to the naming of musical tone without external reference. The influential two-component model states that AP is limited by the late-emerging pitch labeling process only and not the earlier perceptual and memory processes. Over the years, however, support for this model at the neural level has been mixed with various methodological limitations. Here, the electroencephalography responses of 27 AP possessors and 27 non-AP possessors were recorded. During both name verification and passive listening, event-related potential analyses showed a difference between AP and non-AP possessors at about 200 ms in their response toward tones compared with noise stimuli. Multivariate pattern analyses suggested that pitch naming was subserved by a series of transient processes for the first 250 ms, followed by a stage-like process for both AP and non-AP possessors with no group differences between them. These findings are inconsistent with the predictions of the two-component model, and instead suggest the existence of an early perceptual locus of AP., (© 2022 Society for Psychophysiological Research.)

Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency. In addition, we provide a systematic revision of all the published cases of hypopituitarism among patients with MS., Case Presentation: A 6-year-old patient with a MS was referred to our outpatient clinic for faltering growth. The combination of stature below -3.0 SDS, impaired height velocity and pathological response to two GH-stimulation tests prompted the diagnosis of GH deficiency and therefore recombinant human GH was undertaken. Brain MRI highlighted a thin infundibular stalk. By the age of 10 years, she started to complain progressive fatigue and the co-occurrence of remarkably decreased fT4 levels in the setting of non-increased TSH led to diagnose central hypothyroidism. Accordingly, she was started on levothyroxine replacement therapy with timely clinical improvement. At the age of 11.3 years, recurrent symptoms consistent with morning hypoglycaemia prompted the prescription of a low-dose ACTH test, that confirmed an ACTH deficiency, in the setting of a multiple pituitary hormonal impairment., Conclusions: Patients with MS are potentially at risk for either isolated or multiple pituitary hormones deficiency. Clinicians should lower the threshold for prescribing a dedicated endocrine assessment., (© 2025 Walter de Gruyter GmbH, Berlin/Boston.)

The extraocular muscles (EOMs) possess unique characteristics that set them apart from other skeletal muscles. These muscles, responsible for eye movements, exhibit remarkable resistance to various muscular dystrophies and aging, presenting a significant contrast to the vulnerability of skeletal muscles to these conditions. In this review, we delve into the cellular and molecular underpinnings of the distinct properties of EOMs. We explore their structural complexity, highlighting differences in fiber types, innervation patterns, and developmental origins. Notably, EOM fibers express a diverse array of myosin heavy-chain isoforms, retaining embryonic forms into adulthood. Moreover, their motor innervation is characterized by a high ratio of nerve fibers to muscle fibers and the presence of unique neuromuscular junctions. These features contribute to the specialized functions of EOMs, including rapid and precise eye movements. Understanding the mechanisms behind the resilience of EOMs to disease and aging may offer insights into potential therapeutic strategies for treating muscular dystrophies and myopathies affecting other skeletal muscles. [ABSTRACT FROM AUTHOR]

Background: As pediatricians play a vital role in pediatric palliative care (PPC), understanding their perspectives toward PPC is important. PPC is established for a long time in Belgium, but has a shorter tradition in China, although it is growing in the last decade. Sampling and comparing the perspectives of these pediatricians could be insightful for both countries. Therefore, we sampled and compared perspectives of pediatricians in China and Belgium toward PPC, and explored factors influencing their perspectives. Methods: We conducted a cross-sectional online survey using the validated Pediatric Palliative Care Attitude Scale (PPCAS). Over a five-month period, we recruited pediatricians practicing in China (C) and Flanders (F), Belgium. Convenience sampling and snowballing were used. We analyzed data with descriptive statistics, and evaluated group differences with univariate, multivariate and correlation tests. Results: 440 complete surveys were analyzed (F: 115; C: 325). Pediatricians in both regions had limited PPC experience (F: 2.92 ± 0.94; C: 2.76 ± 0.92). Compared to Flemish pediatricians, Chinese pediatricians perceived receiving less unit support (F: 3.42 ± 0.86; C: 2.80 ± 0.89); perceived PPC less important (F: 4.70 ± 0.79; C: 4.18 ± 0.94); and faced more personal obstacles while practicing PPC (F: 3.50 ± 0.76; C: 2.25 ± 0.58). Also, select socio-demographic characteristics (e.g., experiences caring for children with life-threatening condition and providing PPC) influenced pediatricians' perspectives. Correlational analyses revealed that pediatricians' PPC experiences significantly correlated with perceived unit support (ρF = 0.454; ρC=0.661). Conclusions: Chinese pediatricians faced more barriers in practicing PPC. Expanding PPC experiences can influence pediatricians' perspectives positively, which may be beneficial for the child and their family. [ABSTRACT FROM AUTHOR]

Measles, mumps, rubella (MMR), and varicella incidence rates have increased due to the delayed vaccination schedules of children secondary to the COVID-19 pandemic. Decreased herd immunity creates a risk for immunocompetent children and immunocompromised individuals in the community. Historically, live-attenuated vaccines (MMR and varicella) were recommended before solid organ transplants. The amount of time before transplant when this is appropriate is often debated, as is the utility of vaccine titers. MMR and varicella vaccines previously were not recommended in immunocompromised patients post-solid organ transplant due to the undue risk of transmission and posed infection risk. The new literature on live-attenuated vaccines in post-transplant pediatric patients provides more insight into the vaccines' safety and efficacy. The present article aims to provide guidance on live-attenuated vaccines (MMR and varicella) in the pre-transplant and post-operative solid organ transplant phases of care in pediatric patients. [ABSTRACT FROM AUTHOR]

MELAS syndrome, characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, represents a devastating mitochondrial disease, with the stroke-like episodes being its primary manifestation. Arginine supplementation has been used and recommended as a treatment for these acute attacks; however, insufficient evidence exists to support this treatment for MELAS. The mechanisms underlying the effect of arginine on MELAS pathophysiology remain unclear, although it is hypothesized that arginine could increase nitric oxide availability and, consequently, enhance blood supply to the brain. A more comprehensive understanding of these mechanisms is necessary to improve treatment strategies, such as dose and regimen adjustments; identify which patients could benefit the most; and establish potential markers for follow-up. This review aims to analyze the existing evidence concerning the mechanisms through which arginine supplementation impacts MELAS pathophysiology and provide the current scenario and perspectives for future investigations. [ABSTRACT FROM AUTHOR]

Background: Infections are a serious short‐ and long‐term problem after pediatric organ transplantation. In immunocompromised patients, they can lead to transplant rejection or a severe course with a sometimes fatal outcome. Vaccination is an appropriate means of reducing morbidity and mortality caused by vaccine‐preventable diseases. Unfortunately, due to the disease or its course, it is not always possible to establish adequate vaccine protection against live‐attenuated viral vaccines (LAVVs) prior to transplantation. LAVVs such as measles, mumps, and rubella (MMR) are still contraindicated in solid organ transplant recipients receiving immunosuppressive therapy (IST), thus creating a dilemma. Aim: This review discusses whether, when, and how live‐attenuated MMR vaccines can be administered effectively and safely to pediatric liver transplant recipients based on the available data. Material and Methods: We searched PubMed for literature on live‐attenuated MMR vaccination in pediatric liver transplantation (LT). Results: Nine prospective observational studies and three retrospective case series were identified in which at least 833 doses of measles vaccine were administered to 716 liver transplant children receiving IST. In these selected patients, MMR vaccination was well tolerated and no serious adverse reactions to the vaccine were observed. In addition, an immune response to the vaccine was demonstrated in patients receiving IST. Conclusion: Due to inadequate vaccine protection in this high‐risk group, maximum efforts must be made to ensure full immunization. MMR vaccination could also be considered for unprotected patients after LT receiving IST following an individual risk assessment, as severe harm from live vaccines after liver transplantation has been reported only very rarely. To this end, it is important to establish standardized and simple criteria for the selection of suitable patients and the administration of the MMR vaccine to ensure safe use. [ABSTRACT FROM AUTHOR]

Complex locomotor patterns are generated by combination of muscle synergies. How genetic processes, early sensorimotor experiences, and the developmental dynamics of neuronal circuits contribute to the expression of muscle synergies remains elusive. We shed light on the factors that influence development of muscle synergies by studying subjects with spinal muscular atrophy (SMA, types II/IIIa), a disorder associated with degeneration and deafferentation of motoneurons and possibly motor cortical and cerebellar abnormalities, from which the afflicted would have atypical sensorimotor histories around typical walking onset. Muscle synergies of children with SMA were identified from electromyographic signals recorded during active-assisted leg motions or walking, and compared with those of age-matched controls. We found that the earlier the SMA onset age, the more different the SMA synergies were from the normative. These alterations could not just be explained by the different degrees of uneven motoneuronal losses across muscles. The SMA-specific synergies had activations in muscles from multiple limb compartments, a finding reminiscent of the neonatal synergies of typically developing infants. Overall, while the synergies shared between SMA and control subjects may reflect components of a core modular infrastructure determined early in life, the SMA-specific synergies may be developmentally immature synergies that arise from inadequate activity-dependent interneuronal sculpting due to abnormal sensorimotor experience and other factors. Other mechanisms including SMA-induced intraspinal changes and altered cortical-spinal interactions may also contribute to synergy changes. Our interpretation highlights the roles of the sensory and descending systems to the typical and abnormal development of locomotor modules. [ABSTRACT FROM AUTHOR]

This study aimed to obtain implications on childrearing and childcare practices for achieving children's well-being through analyzing factors predicting children's well-being during the COVID-19 pandemic in eight Asian countries. We primarily focused on "resilience," the ability to cope with and recover from difficult situations, which had been confirmed from previous studies as a positive factor towards children's development in the context of hardships. We also chose other potential predictors referring to Bronfenbrenner's ecological systems theory, including mothers' concerns about COVID-19, household income, number of playmates, support from childcare facilities/schools, family environments, and children's lifestyles, and examined how these predictor variables predict children's well-being. We found that children's resilience strongly predicted their well-being, which was common in all eight countries. Family factors and children's daily life factors were also associated with children's well-being. The country-specific analysis also indicated the importance of support from childcare facilities/schools on well-being. Well-being and resilience are both psychological constructs and often studied as important indicators of child health. Resilience has been spot-lighted as an effective protective factor for children experiencing adversities such as the COVID-19 pandemic. We have found that resilience was the strongest predictor of well-being among other factors even during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

Betz cells, named in honor of Volodymyr Betz (1834–1894), who described them as "giant pyramids" in the primary motor cortex of primates and other mammalian species, are layer V extratelencephalic projection (ETP) neurons that directly innervate α‐motoneurons of the brainstem and spinal cord. Despite their large volume and circumferential dendritic architecture, to date, no single molecular criterion has been established that unequivocally distinguishes adult Betz cells from other layer V ETP neurons. In primates, transcriptional signatures suggest the presence of at least two ETP neuron clusters that contain mature Betz cells; these are characterized by an abundance of axon guidance and oxidative phosphorylation transcripts. How neurodevelopmental programs drive the distinct positional and morphological features of Betz cells in humans remains unknown. Betz cells display a distinct biphasic firing pattern involving early cessation of firing followed by delayed sustained acceleration in spike frequency and magnitude. Few cell type‐specific transcripts and electrophysiological characteristics are conserved between rodent layer V ETP neurons of the motor cortex and primate Betz cells. This has implications for the modeling of disorders that affect the motor cortex in humans, such as amyotrophic lateral sclerosis (ALS). Perhaps vulnerability to ALS is linked to the evolution of neural networks for fine motor control reflected in the distinct morphomolecular architecture of the human motor cortex, including Betz cells. Here, we discuss histological, molecular, and functional data concerning the position of Betz cells in the emerging taxonomy of neurons across diverse species and their role in neurological disorders. [ABSTRACT FROM AUTHOR]

We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running. Physical and neurological examinations reveal curly blond hair, generalized muscle atrophy, slow speech and difficulty swallowing solid food, foot drop, pes cavus, hammertoe deformities; reduced deep tendon reflexes, clumsy gait, impaired sense of position, and intention tremors.This comprehensive report significantly expands the clinical and mutational spectrum of Giant Axonal Neuropathy. Whole Exome Sequencing (WES) analysis revealed a novel homozygous variant (NC_000016.10(NM_022041.3):c.2T > C) in the GAN gene, confirmed by Sanger sequencing. Segregation analysis showed that the parents were heterozygous for the variant. The variant was absent in a cohort of 430 healthy individuals from the same ethnic group and in other published population databases such as GenomAD and the 1000 Genome. The clinical manifestations, segregation analysis, population study, and bioinformatics analysis collectively confirm the pathogenicity of variant., Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Conflict of interest: The authors declare that they have no competing interests. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of University of Tabriz (IR.TABRIZU.REC.1402.160). Consent to participate: Written informed consent was taken from all participants. Consent to publication: Not applicable., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The use of live attenuated vaccines in patients with immunosuppressive agents is contraindicated in package inserts and guidelines in Japan and other countries. However, patients receiving immunosuppressants have a high risk of infectious disease becoming severe, and the necessity to prevent infectious disease is high. To date, 2,091 vaccinations have been reported in 25 reports of live attenuated vaccines in people receiving immunosuppressants. Twenty-three patients (1.1%) became infected with the virus strain used in the vaccine, which was varicella virus in 21 patients. No reports have described life-threatening complications. A prospective study at the National Center for Child Health and Development conducted under certain immunological conditions (CD4 cell count ≥ 500/mm3, stimulation index of lymphocyte blast transformation by phytohemagglutinin (PHA) ≥ 101.6, serum immunoglobulin G ≥ 300 mg/dL) confirmed the serological effectiveness and safety. The evidence suggests that live attenuated vaccines can be used even in combination with immunosuppressants. Further evidence must be gathered and immunological criteria investigated to determine the conditions for safe use. Depending on the results of these investigations, the wording in package inserts and guidelines may need to be revised. [ABSTRACT FROM AUTHOR]

Background: Live attenuated varicella vaccine (LAVV) has historically been contraindicated in children who are immunocompromised due to solid organ transplant (SOT) because of safety concerns. Recently, clinical guidelines were developed that support post‐transplant varicella vaccination in selected SOT recipients based on emerging evidence of LAVV safety. This qualitative study sought to explore barriers and facilitators to implementing the new guidelines, as well as acceptability of LAVV among healthcare providers (HCPs) and parents. Methods: HCPs and parents of transplant recipients were recruited from four sites using purposive sampling. Data from semi‐structured interviews were analyzed using an Interpretive Description approach that incorporated data from the interviews, academic knowledge and clinical experience, and drew from Grounded Theory and Thematic Analysis. The theoretical framework used was Adaptive Leadership. Results: Thirty‐four participants (16 HCPs and 18 parents) were included in the analysis. Parents developed skills in adaptive leadership that included strategies to protect their child against infectious diseases. Foundational information that live vaccines were absolutely contraindicated post‐transplant "stuck" with parents and led them to develop strategies other than vaccination to keep their child safe. Some parents struggled to understand that information previously presented as a certainty (contraindication of LAVV) could change. Their approach to adaptive leadership informed their appraisal of the new vaccination guidelines and willingness to accept vaccination. Conclusions: HCPs should adopt a family‐centered approach to communicating changing guidelines that considers parents' approach to adaptive leadership and discusses the changing nature of medical evidence. Trust between HCPs and parents can facilitate these conversations. [ABSTRACT FROM AUTHOR]

Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition. [ABSTRACT FROM AUTHOR]

The researchers hoped to find new themes or ideas in the reviews of studies on parenting practices that emerged as a result of the pandemic. The study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement guidelines. A systematic search of the studies was searched online through ERIC, PubMed, and Researchgate with parenting, parenting style, parenting practices, personality disorder, pre-pandemic, pandemic, Covid-19, and psychopathology as search terms. Same keywords were used for all databases for the search strategy. Participants, language, and year of publication were considered while research design, sample size, and locale did not affect inclusion. After screening, a total of 24 from the 77 screened publications originally identified were included in the review. Four key themes were extracted from the reviewed articles to reflect the emerging parenting practices as a result of the pandemic. Results revealed the following themes on parenting practices during pandemic presented in four (4) key themes: 1) Parenting with empathy and adaptive response; 2)Positive parenting with involvement; 3) Parenting Styles Can Make or Break; and 4) Parental condition as risk or protective factors. The researchers concluded that parenting studies reviewed during the pandemic period revealed the association of the parents' ability to adapt to changes and engage in empathy towards the child, ability to provide positive care and involvement, to add warmth on the practice of permissive parenting style, and the experience of parental anxiety or distress, on the child's experiences during online classes as well as the risk of depression and other behavioral outcomes. [ABSTRACT FROM AUTHOR]

Acute Necrotising Encephalopathy of Childhood (ANEC) is a fatal disease diagnosed on basis of clinical and typical Magnetic Resonance Imaging (MRI) findings. The prognosis of this encephalopathy is generally poor, with fewer than 10% of cases recovering completely. Patients with a favourable outcome had reversible neuroimaging findings. Long-term sequelae commonly include neurologic deficits such as spasticity, epilepsy, and involuntary movements. In this case series, five cases of ANEC were reported. The children included in this series ranged in age from nine months to 16 years. All the children were female, and their presenting symptoms included seizures (n=5), altered sensorium (n=5), features of raised intracranial pressure (n=5), and posturing (n=1). Neuroimaging revealed characteristic lesions in the thalamus with varied involvement of other parts of the brain in all cases (n=5). Cerebrospinal Fluid (CSF) analysis was normal in the majority of children. Four out of five cases survived and responded to early steroids, intravenous immunoglobulin, physiotherapy, and rehabilitation. One child had complete recovery, with three children experiencing disabilities and one child succumbing to the disease. [ABSTRACT FROM AUTHOR]

Background: One of the most important and ethically challenging decisions made for children with life-limiting conditions is withholding/withdrawing life-sustaining treatments (LST). As important (co-)decision-makers in this process, physicians are expected to have deeply and broadly developed views. However, their attitudes and experiences in this area remain difficult to understand because of the diversity of the studies. Hence, the aim of this paper is to describe physicians' attitudes and experiences about withholding/withdrawing LST in pediatrics and to identify the influencing factors. Methods: We systematically searched Pubmed, Cinahl®, Embase®, Scopus®, and Web of Science™ in early 2021 and updated the search results in late 2021. Eligible articles were published in English, reported on investigations of physicians' attitudes and experiences about withholding/withdrawing LST for children, and were quantitative. Results: In 23 included articles, overall, physicians stated that withholding/withdrawing LST can be ethically legitimate for children with life-limiting conditions. Physicians tended to follow parents' and parents-patient's wishes about withholding/withdrawing or continuing LST when they specified treatment preferences. Although most physicians agreed to share decision-making with parents and/or children, they nonetheless reported experiencing both negative and positive feelings during the decision-making process. Moderating factors were identified, including barriers to and facilitators of withholding/withdrawing LST. In general, there was only a limited number of quantitative studies to support the hypothesis that some factors can influence physicians' attitudes and experiences toward LST. Conclusion: Overall, physicians agreed to withhold/withdraw LST in dying patients, followed parent-patients' wishes, and involved them in decision-making. Barriers and facilitators relevant to the decision-making regarding withholding/withdrawing LST were identified. Future studies should explore children's involvement in decision-making and consider barriers that hinder implementation of decisions about withholding/withdrawing LST. [ABSTRACT FROM AUTHOR]

Congenital diaphragmatic hernia (CDH) is a life-threatening condition characterized by the herniation of abdominal organs into the thorax, resulting in hypoplastic lungs and pulmonary hypertension. The impact of the first cry, a crucial event for lung transition during birth, on CDH patients remains unclear. This study investigated the impact of the first cry during birth on CDH patient survival, along with other prognosis factors. A multi-institutional retrospective study assessed CDH patient characteristics and survival rates by analyzing factors including the first cry, disease severity, birth weight, Apgar scores, oxygenation index (OI) and surgical closure. Among the CDH patients in the study, a positive first cry was linked to 100% survival, regardless of disease severity (p < 0.001). Notably, the presence of a positive first cry did not significantly affect survival rates in patients with worse prognostic factors, such as low birth weight (<2500 g), high CDH severity, low Apgar scores (1 min ≤ 4), high best OI within 24 h after birth (≥8), or those who underwent patch closure. Furthermore, no significant association was found between the first cry and the use of inhaled nitric oxide (iNO) or extracorporeal membrane oxygenation (ECMO). In conclusion, this study suggests that the first cry may not have a negative impact on the prognosis of CDH patients and could potentially have a positive effect. [ABSTRACT FROM AUTHOR]

In the Bianchi I cosmology some subclasses of the Horndeski theory allow for the non-standard anisotropy behavior. For example, the anisotropy is damped near the initial singularity instead of tending to infinity. In this article, we analyze the nonlinear anisotropic model with the linear potential. We have considered an example of such theory, for which the anisotropy is always finite. The anisotropy reaches its a maximum value at the initial moment. The anisotropy suppression occurs during the inflationary stage, and it approaches zero at later times. This cosmological model does not contain the singular point. [ABSTRACT FROM AUTHOR]

Background: Low‐vaccination rates worldwide have led to the re‐emergence of vaccine‐preventable infections, including measles. Immunocompromised patients, including pediatric solid organ transplant (SOT) recipients, are at risk for measles because of suboptimal vaccination, reduced or waning vaccine immunity, lifelong immunosuppression, and global re‐emergence of measles. Objectives: To review published cases of measles in pediatric SOT recipients to heighten awareness of its clinical manifestations, summarize diagnostic and treatment strategies, and identify opportunities to optimize prevention. Methods: We conducted a literature review of published natural measles infections in SOT recipients ≤21 years of age, summarizing management and outcomes. We describe measles epidemiology, recommended diagnostics, treatment, and highlight prevention strategies. Results: There are seven published reports of measles infection in 12 pediatric SOT recipients, the majority of whom were unvaccinated or incompletely vaccinated. Subjects had atypical or severe clinical presentations, including lack of rash and complications, most frequently with encephalitis and pneumonitis, resulting in 33% mortality. Updated recommendations on testing and vaccination are provided. Treatment options beyond supportive care and vitamin A are limited, with no approved antivirals. Conclusion: While measles is infrequently reported in pediatric SOT recipients, morbidity and mortality remain significant. A high index of suspicion is warranted in susceptible SOT recipients with clinically compatible illness or exposure. Providers must recognize this risk, educate families, and be aware of both classic and atypical presentations of measles to rapidly identify, isolate, and diagnose measles in pediatric SOT recipients. Continued efforts to optimize measles vaccination both pre‐ and post‐SOT are warranted. [ABSTRACT FROM AUTHOR]

Previous research has investigated the brain structure of musicians with absolute pitch (AP); however, pitch identification (PI) ability also exists in nonmusicians. The current study examined the relationship between PI ability and cortical complexity in nonmusicians using fractal dimensionality, a relatively novel way to analyze morphological patterns of cortical organization. Results showed that compared to nonmusicians with average PI ability, those with superior PI exhibited more fractal dimensionality of the left middle and transverse temporal gyrus, right paracentral lobule, superior frontal and precentral gyri, bilateral lateral orbitofrontal, medial orbitofrontal, superior temporal and postcentral gyri as well as less fractal dimensionality of the left precuneus, right superior parietal lobule and insula gyrus, and bilateral supramarginal gyrus. Moreover, the PI score for the superior PI group was positively correlated with fractal dimensionality of the left medial orbitofrontal, superior temporal, and supramarginal gyri; for the average PI group, their PI score was negatively correlated with fractal dimensionality of the left middle temporal, right superior frontal, and right insula gyri. Although the research about fractal dimensionality in young adults has been scant so far, the present study extends our understanding of the neuroanatomical correlates of AP musicians to encompass those with superior PI ability in nonmusicians. [ABSTRACT FROM AUTHOR]

We study cuscuton inflation for the models where the potential of the cuscuton takes quadratic and exponential forms. We find that for the quadratic potential, a scalar spectral index n s is not affected by cuscuton at the leading order in the slow-roll inflation models. However, a tensor-to-scalar ratio r can be suppressed. For the exponential potential of cuscuton, we find the condition for which the inflation has a graceful exit. Under this condition, the observational predictions in this model differ by a few percent from those found in standard inflation. We also examine the particle production due to parametric resonances in both models. We find that in Minkowski space the stage of parametric resonances can be described by the Mathieu equation. For the case where the cuscuton has quadratic potential, the amplitude of the driving force in the Mathieu equation has a similar form as that in standard inflation. Nevertheless, in the case of exponential potential, the amplitude of the driving force decreases faster than that in the standard case. However, parametric resonances in our models can be sufficiently broad possible for the exponential growth of the number of particles. We briefly discuss the case in which the expansion of space is taken into account. [ABSTRACT FROM AUTHOR]

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Introduction: The architecture and function of sleep during infancy and early childhood has not been fully described in the scientific literature. The impact of early sleep disruption on cognitive and physical development is also under-studied. The aim of this review was to investigate early childhood sleep development over the first two years and its association with neurodevelopment. Methods: This review was conducted according to the 2009 PRISMA guidelines. Four databases (OVID Medline, Pubmed, CINAHL, and Web of Science) were searched according to predefined search terms. Results: Ninety-three studies with approximately 90,000 subjects from demographically diverse backgrounds were included in this review. Sleep is the predominant state at birth. There is an increase in NREM and a decrease in REM sleep during the first two years. Changes in sleep architecture occur in tandem with development. There are more studies exploring sleep and early infancy compared to mid and late infancy and early childhood. Discussion: Sleep is critical for memory, learning, and socio-emotional development. Future longitudinal studies in infants and young children should focus on sleep architecture at each month of life to establish the emergence of key characteristics, especially from 7–24 months of age, during periods of rapid neurodevelopmental progress. [ABSTRACT FROM AUTHOR]

This study used a small stories research narrative paradigm to examine social media posts that focused on efforts to sustain the delivery of early childhood education during COVID. Inductive and deductive content analysis focused on 1303 posts from 177 government officials and 1126 individual users (including preschools, kindergartens, teachers, and parents). The results include an analysis of conversational data that document implementation of the national policy to promote continuity of young children's learning, including digital resources used, learning content, and teaching approaches. Actor-centric contextual factors determined the success of delivering instruction remotely; however, other contextual components created the conditions that necessitated adaptation of instruction. The COVID outbreak (chrono-level) led to shifts in education delivery and informed national policy (macro-level), influenced the teachers' and parents' work contexts (exo-level), enhanced home-school collaboration (meso-level), and required implementation of technological solutions to support children's learning (micro-level). Contributions to theory, methodology, and practice are discussed. [ABSTRACT FROM AUTHOR]

Peroxisomes are subcellular organelles that play a central role in human physiology by catalyzing a range of unique metabolic functions. The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases caused by an impairment in one or more peroxisomal functions. Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role in metabolism, peroxisomes require continued interaction with other subcellular organelles including lipid droplets, lysosomes, the endoplasmic reticulum, and mitochondria. In recent years it has become clear that the metabolic alliance between peroxisomes and other organelles requires the active participation of tethering proteins to bring the organelles physically closer together, thereby achieving efficient transfer of metabolites. This review intends to describe the current state of knowledge about the metabolic role of peroxisomes in humans, with particular emphasis on the metabolic partnership between peroxisomes and other organelles and the consequences of genetic defects in these processes. We also describe the biogenesis of peroxisomes and the consequences of the multiple genetic defects therein. In addition, we discuss the functional role of peroxisomes in different organs and tissues and include relevant information derived from model systems, notably peroxisomal mouse models. Finally, we pay particular attention to a hitherto underrated role of peroxisomes in viral infections. [ABSTRACT FROM AUTHOR]

Research indicates that mathematical understanding before formal schooling influences later attainment. This study investigated the mathematical activities of preschool-aged children in Japan, a neglected topic despite the high mathematical attainment of Japanese children. Preschool activities were investigated using surveys, observations, and staff interviews; activities at home and use of non-preschool educational providers were investigated using surveys of parents. The results showed that preschools overwhelmingly followed the government curricula, seeking to develop children's interest in and sense of number, quantity, and shape through activities embedded in play and daily life; more directed teaching using workbooks was rare. Many children frequently engaged in informal mathematics-related activities at home. An unexpectedly high proportion of children engaged with learning materials from non-preschool educational providers. Results were broadly consistent across the two locations studied, despite the contrasting attainment of children in these areas in national mathematics tests. The results demonstrate that preschools in different parts of Japan avoid directed mathematical teaching. Further research is needed into the development of the mathematical understanding of preschool-aged children in Japan, especially in relation to non-preschool educational providers. [ABSTRACT FROM AUTHOR]

Detection of a gravitational-wave signal of non-astrophysical origin would be a landmark discovery, potentially providing a significant clue to some of our most basic, big-picture scientific questions about the Universe. In this white paper, we survey the leading early-Universe mechanisms that may produce a detectable signal—including inflation, phase transitions, topological defects, as well as primordial black holes—and highlight the connections to fundamental physics. We review the complementarity with collider searches for new physics, and multimessenger probes of the large-scale structure of the Universe. [ABSTRACT FROM AUTHOR]

Copyright of Ege Journal of Medicine is the property of Ege University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article explores child well‐being in Danish early childhood education and care (ECEC) during the time of COVID‐19. A phased reopening of Denmark occurred in spring 2020 under strict health guidelines. Two ECEC institutions were followed first‐hand to observe the impact of the pandemic on pedagogy and child well‐being. Observations and interviews were conducted with follow‐up interviews and an online survey a year later. The findings suggest that the pandemic caused pedagogues to work in a more child‐sensitive way with elevated staff/child ratios and children in small, fixed groups; however, child well‐being was not negatively affected, despite the acute situation [ABSTRACT FROM AUTHOR]

Recreational activity undertaken within urban green spaces (UGS) is an action that could be self-governed and self-regulated by a given person under the pressure of COVID-19. We aimed to identify the factors that induce or reduce the frequency of recreational activity during the COVID-19 pandemic. These factors were explored among two distinct fields: (1) demographic variables and (2) stress-coping strategies. The former is associated with a body of literature on socioeconomic determinants of physical activity. The latter is derived from psychological studies on coping responses to problems. In this paper, we present an interdisciplinary perspective on human recreational activity during the pandemic. We collected information on stress-coping strategies and the patterns of urban green recreation among 376 prime-age Polish adults with different places of residence. We observed that people who use forests daily had higher scores of acceptance as a coping strategy than people using green spaces only on weekends. As choosing acceptance as a coping strategy is typical for those who consider their situation to be irreversible, green recreation may help to acclimate individuals to stressful situations that cannot be easily changed or controlled, which is the case for the pandemic. Moreover, we found that active coping, as well as avoidant coping, were predictors of increased use of green spaces during the pandemic. This conclusion affirms that green recreation as a form of reducing COVID-19-induced stress is associated with the dual nature of coping (active and avoidant). Further research is necessary to better understand of motivation to use urban green recreation, especially when practiced as a method of strengthening mental health. [ABSTRACT FROM AUTHOR]

Musicians with absolute pitch (AP) can name the pitch of a musical note in isolation. Expression of this unusual ability is thought to be influenced by heritability, early music training and current practice. However, our understanding of factors shaping its expression is hampered by testing and scoring methods that treat AP as dichotomous. These fail to capture the observed variability in pitch-naming accuracy among reported AP possessors. The aim of this study was to trial a novel explicit priming paradigm to explore phenotypic variability of AP. Thirty-five musically experienced individuals (Mage = 29 years, range 18–68; 14 males) with varying AP ability completed a standard AP task and the explicit priming AP task. Results showed: 1) phenotypic variability of AP ability, including high-accuracy AP, heterogeneous intermediate performers, and chance-level performers; 2) intermediate performance profiles that were either reliant on or independent of relative pitch strategies, as identified by the priming task; and 3) the emergence of a bimodal distribution of AP performance when adopting scoring criteria that assign credit to semitone errors. These findings show the importance of methods in studying behavioural traits, and are a key step towards identifying AP phenotypes. Replication of our results in larger samples will further establish the usefulness of this priming paradigm in AP research. [ABSTRACT FROM AUTHOR]

Copyright of Journal for Neurology & Psychiatry of Child & Adolescent in Romania is the property of Romanian Society of Child & Adolescent Neurology & Psychiatry and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Vaccine preventable illnesses are important sources of morbidity, mortality, and increased healthcare costs in pediatric LT recipients. Our aim was to measure the seroprevalence of antibodies to measles and VZV in this population. Methods: We conducted a retrospective chart review of 44 patients who received LT before age 18 at UCLA Mattel Children's Hospital from January 2008 to December 2017. Results: Median age at transplantation was 2.5 years (IQR 1.2–7.7). Post‐transplant measles antibodies were present in 17 of 37 patients (46%); risk factors for seronegativity included younger age at transplant (p =.02) and greater time from transplant to testing (p =.04). Post‐transplant VZV antibodies were present in 17 of 39 patients (44%); risk factors for seronegativity included greater time from transplant to testing (p =.04). 6 of 16 patients (38%) who tested positive for pre‐transplant VZV antibodies tested negative after transplantation. Fourteen of 20 patients (70%) with at least 1 documented dose of the MMR vaccine tested positive for post‐transplant measles antibodies. Ten of 20 of patients (50%) with at least 1 documented dose of the VZV vaccine tested positive for post‐transplant VZV antibodies. We also describe 10 patients who received post‐transplant measles and VZV vaccines without documented complications. Conclusions: Our study suggests that pediatric LT patients are at greater risk of contracting measles and VZV despite vaccination status, and that prevalence of measles and VZV antibodies decreases as time from transplantation increases. This should weigh into the institutional risk–benefit assessment when deciding whether or not to administer LAVs to these patients. [ABSTRACT FROM AUTHOR]