Epilepsy is a common comorbidity of brain tumors; however, little is known about the prevalence, onset time, semiology, and risk factors of seizures in primary CNS lymphoma (PCNSL). Our objectives were to determine the prevalence of epilepsy in PCNSL, to identify factors associated with epilepsy, and to investigate the prognostic significance of seizures in PCNSL. We performed an observational, retrospective single-center study at a tertiary neuro-oncology center (2011-2023) including immunocompetent patients with PCNSL and no history of seizures. We collected clinical, imaging, and treatment data; seizure status over the course of PCNSL; and oncological and seizure outcome. The primary outcome was to determine the prevalence of epilepsy. Furthermore, we aimed to identify clinical, radiologic, and treatment-related factors associated with epilepsy. Univariate analyses were conducted using the χ2 test for categorical variables and unpaired t test for continuous variables. Predictors identified in the unadjusted analysis were included in backward stepwise logistic regression models. We included 330 patients, 157 (47.6%) were male, median age at diagnosis was 68 years, and the median Karnofsky Performance Status score was 60. Eighty-three (25.2%) patients had at least 1 seizure from initial diagnosis to the last follow-up, 40 (12.1%) as the onset symptom, 16 (4.8%) during first line of treatment, 27 (8.2%) at tumor progression and 6 (1.8%) while in remission. Focal aware seizures were the most frequent seizure type, occurring in 43 (51.8%) patients. Seizure freedom under antiseizure medication was observed in 97.6% patients. Cortical contact (odds ratio [OR] 8.6, 95% CI 4.2-15.5, p < 0.001) and a higher proliferation index (OR 5.7, 95% CI 1.3-26.2, p = 0.02) were identified as independent risk factors of epilepsy. Patients with PCNSL and epilepsy had a significantly shorter progression-free survival (median progression-free survival 9.6 vs 14.1 months, adjusted hazard ratio 1.4, 95% CI 1.0-1.9, p = 0.03), but not a significantly shorter overall survival (17 vs 44.1 months, log-rank test, p = 0.09). Epilepsy affects a quarter of patients with PCNSL, with half experiencing it at the time of initial presentation and potentially serving as a marker of disease progression. Further research is necessary to assess the broader applicability of these findings because they are subject to the constraints of a retrospective design and tertiary center setting.

Polyglutamine (PolyQ) disease is a group of hereditary neurodegenerative diseases. It has become clear that brain damage may occur decades before the onset of symptoms. As a sensitive marker for neuro-axonal damages, neurofilament light chain (NfL) has appeared as a promising biomarker for neurological diseases. it may be used as a preclinical and clinical marker for the neurodegeneration in polyQ diseases, and is closely correlated with disease severity and progression, in particular different disease stages. This article has provided a review for the value of NfL as a biomarker in polyQ disease and its future research directions.

To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome. A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing. The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c.561_567delACACGCA (p.Q187fs*7), which was classified as pathogenic (PVS1+PS2+PM2_Supporting). The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.

It is widely cited that dementia occurs in up to 80% of patients with Parkinson disease (PD), but studies reporting such high rates were published over two decades ago, had relatively small samples, and had other limitations. We aimed to determine long-term dementia risk in PD using data from two large, ongoing, prospective, observational studies. Participants from the Parkinson's Progression Markers Initiative (PPMI), a multisite international study, and a long-standing PD research cohort at the University of Pennsylvania (Penn), a single site study at a tertiary movement disorders center, were recruited. PPMI enrolled de novo, untreated PD participants and Penn a convenience cohort from a large clinical center. For PPMI, a cognitive battery is administered annually, and a site investigator makes a cognitive diagnosis. At Penn, a comprehensive cognitive battery is administered either annually or biennially, and a cognitive diagnosis is made by expert consensus. Interval-censored survival curves were fit for time from PD diagnosis to stable dementia diagnosis for each cohort, using cognitive diagnosis of dementia as the primary end point and Montreal Cognitive Assessment (MoCA) score <21 and Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part I cognition score ≥3 as secondary end points for PPMI. In addition, estimated dementia probability by PD disease duration was tabulated for each study and end point. For the PPMI cohort, 417 participants with PD (mean age 61.6 years, 65% male) were followed, with an estimated probability of dementia at year 10 disease duration of 9% (site investigator diagnosis), 15% (MoCA), or 12% (MDS-UPDRS Part I cognition). For the Penn cohort, 389 participants with PD (mean age 69.3 years, 67% male) were followed, with 184 participants (47% of cohort) eventually diagnosed with dementia. The interval-censored curve for the Penn cohort had a median time to dementia of 15 years (95% CI 13-15); the estimated probability of dementia was 27% at 10 years of disease duration, 50% at 15 years, and 74% at 20 years. Results from two large, prospective studies suggest that dementia in PD occurs less frequently, or later in the disease course, than previous research studies have reported.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disease which mainly affects infants, children and adolescents. As an autosomal recessive disorder, CIPA is also known as familial autonomic dysfunction type 2. The diagnosis of CIPA mainly relies on clinical observation and genetic testing. Currently there is lack of effective treatment, and it is mainly treated by cooling, anti-inflammatory and strengthened guardianization. This article has reviewed the literature and summarized the research on CIPA and progress made in its diagnosis and treatment, with an aim to improve the understanding of this disorder.

The concept of metamaterial recently emerged as a new frontier of scientific research, encompassing physics, materials science and engineering. In a broad sense, a metamaterial indicates an engineered material with exotic properties not found in nature, obtained by appropriate architecture either at macro-scale or at micro-/nano-scales. The architecture of metamaterials can be tailored to open unforeseen opportunities for mechanical and acoustic applications, as demonstrated by an impressive and increasing number of studies. Building on this knowledge, this theme issue aims to gather cutting-edge theoretical, computational and experimental studies on elastic and acoustic metamaterials, with the purpose of offering a wide perspective on recent achievements and future challenges. This article is part of the theme issue 'Current developments in elastic and acoustic metamaterials science (Part 1)'.

ABSTRACT Since it establishes differentiated socio-legal eligibility categories among different migrant groups, family reunification constitutes a prime example of the internal border. In my article, I investigate how the border is produced and negotiated in the context of family reunification of refugee children and parents by focusing on discretionary practices of German immigration bureaucracy through the lens of counselling actors in the city. Taking the city of Frankfurt am Main as my research site, I identify ignorance, verification, and temporalization as three administrative control mechanisms over descent-based refugee families. I argue that family reunification constitutes a highly selective and culturalized field of border control, in which refugee families are filtered according to their conformity to a certain family norm and European bureaucratic standards. By examining how counselling actors understand administrative practice, I also discuss how they respond to it, including their own participation in de- and (re-)bordering.

ABSTRACT Registration promotes emancipation: by acquiring a legal individual identity, a person becomes a formal member of a community and obtains rights. However, registration also enables and reproduces hierarchies and subordinate inclusion, especially when it becomes a selective device. This article aims to highlight the ambiguous status of registration by focusing on municipal registration, a device that is analysed from a historical-theoretical perspective and by highlighting the case of European citizens. The aim is to show that municipal registration is part of a local border regime, as it promotes the internalisation of borders. By proposing a theoretical reflection and drawing on research already carried out on municipal registration, the article aims to reveal the ambiguities of registration as an internal border: in particular, how recognition, or conversely the lack of it, is used to exclude or “omit” people, thus preventing them from being fully autonomous in a legal and material sense.

BACKGROUND Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis and therapeutic strategies. AIM To explore the genetic architecture of ASD, elucidate mechanistic insights into genetic mutations, and examine gene-environment interactions. METHODS A comprehensive systematic review was conducted, integrating findings from studies on genetic variations, epigenetic mechanisms (such as DNA methylation and histone modifications), and emerging technologies [including Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 and single-cell RNA sequencing]. Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar. RESULTS Genetic studies have identified numerous risk genes and mutations associated with ASD, yet many cases remain unexplained by known factors, suggesting undiscovered genetic components. Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving. Epigenetic modifications, particularly DNA methylation and non-coding RNAs, also play significant roles in ASD pathogenesis. Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data. CONCLUSION Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments. Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice. Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies, ultimately enhancing outcomes for individuals affected by ASD.

BACKGROUND Mental illness is a health challenge faced by adolescents that has grown worse after the Coronavirus disease 2019 pandemic. Research on social media and young people’s mental health has recently increased, and numerous studies have examined whether frequent use of social media is linked to issues such as anxiety, stress, depression, eating disorders, insomnia, frustration, feeling alone, and externalizing problems among adolescents. This influence of social media on adolescents’ lives is clear, with many platforms like Facebook, Instagram, and YouTube playing an important role in daily interactions and self-expression. Even though social media offers numerous benefits, such as connectivity and information sharing, excessive usage can have detrimental effects on mental health, particularly among adolescents. AIM To study the impact of social media on the mental wellbeing of adolescents, and the associated potential dangers in India. METHODS A total of 204 adolescents aged 14 years to 23 years were included in the study. This study explored the intricate relationship between social media usage and adolescent mental health in India. The study employs a cross-sectional survey design to capture a snapshot of adolescent mental health and social media usage patterns. Data collection involved administering structured questionnaires and the analysis utilized quantitative methods, including descriptive statistics. RESULTS Excessive use of social media is correlated with increased stress, anxiety, and depression. Adolescents engage in compulsive behaviors such as scrolling in the middle of the night, which negatively impacts their mental and physical health, and leads to significant sleep disruption. Findings from the study aim to provide insights into the current state of adolescent mental health and inform strategies to promote positive wellbeing in the Indian population. CONCLUSION The study underscores the need for further research to better understand the complex interplay between social media and adolescent mental health, and need for effective strategies to combat online harassment.