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Background This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes. Methods We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board. A total of 8 patients were included between the ages of 4 to 6 years. All patients had a genetic diagnosis of CLN7 with homozygous or compound heterozygous mutations in the MFSD8 gene. The information collected includes patient demographics, developmental history, neurological events including seizures and neurodevelopmental regression along with further evaluation of brain magnetic resonance imaging and electrophysiological findings. The clinical phenotype is described through cross sectional and retrospective data collection and standardized tools assessing quality of life and functional skills. Results Our findings in this cohort of CLN7 patients indicated that development is initially normal with onset of clinical symptoms as early as two years of age. Language problems were noted prior to or at the onset of seizures in all cases. Gait problems were noted prior to seizure onset in 3 of 8 patients, and at or within 6 months after the onset of seizures in 5 of 8 patients. All patients followed a progressive course of language, motor, and neurocognitive deterioration. Congruent with the medical history, our patients had significantly low scores on adaptive abilities. Natural history data such as this can be used to support future clinical trial designs. Conclusions This study provides a comprehensive description of CLN7 disease, highlighting clinical data alongside standardized neuropsychological assessments, neuroimaging, and electrophysiologic data. It emphasizes the value of importance of standardized tools for understanding disease phenotype and their potential use as endpoints in future clinical trials. The findings established can provide a baseline for developing future prospective natural history studies and potential therapeutic clinical trials.

Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community. Results Patient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress. Conclusion This registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

Physical activity has several mental and psychological health benefits for students. Various studies in western countries have shown evidence of a relationship between physical activity and academic anxiety. Further, researchers have suggested testing the mechanism of this relationship. In this study, we aim to test the association between physical activity and academic anxiety of Canadian university students and to examine whether the mediation of self-enhancement and self-criticism explains this relationship. Four hundred and forty-two university students participated in the study. Structural equation modeling was applied to develop multiple mediation models. Results revealed that physical activity does not directly affect academic anxiety, but indirectly through self-enhancement and self-criticism. Based on the study findings, it is recommended that physical activity be promoted among students to promote self-enhancement, minimize negative thinking and self-criticism, and reduce their academic anxiety.

Fuel influx and metabolism replenish carbon lost during normal neural activity. Ketogenic diets studied in epilepsy, dementia and other disorders do not sustain such replenishment because their ketone body derivatives contain four carbon atoms and are thus devoid of this anaplerotic or net carbon donor capacity. Yet, in these diseases carbon depletion is often inferred from cerebral fluorodeoxyglucose-positron emission tomography. Further, ketogenic diets may prove incompletely therapeutic. These deficiencies provide the motivation for complementation with anaplerotic fuel. However, there are few anaplerotic precursors consumable in clinically sufficient quantities besides those that supply glucose. Five-carbon ketones, stemming from metabolism of the food supplement triheptanoin, are anaplerotic. Triheptanoin can favorably affect Glucose transporter type 1 deficiency (G1D), a carbon-deficiency encephalopathy. However, the triheptanoin constituent heptanoate can compete with ketogenic diet-derived octanoate for metabolism in animals. It can also fuel neoglucogenesis, thus preempting ketosis. These uncertainties can be further accentuated by individual variability in ketogenesis. Therefore, human investigation is essential. Consequently, we examined the compatibility of triheptanoin at maximum tolerable dose with the ketogenic diet in 10 G1D individuals using clinical and electroencephalographic analyses, glycemia, and four- and five-carbon ketosis. 4 of 8 of subjects with pre-triheptanoin beta-hydroxybutyrate levels greater than 2 mM demonstrated a significant reduction in ketosis after triheptanoin. Changes in this and the other measures allowed us to deem the two treatments compatible in the same number of individuals, or 50% of persons in significant beta-hydroxybutyrate ketosis. These results inform the development of individualized anaplerotic modifications to the ketogenic diet. ClinicalTrials.gov registration NCT03301532, first registration: 04/10/2017.

Since independence, Central Asian states are facing problems of security in one form or another including civil wars, ethnic and interstate conflicts, border issues as well as terrorism and extremism. Having a look at the 21st century security threats to the region, human security challenges become prominent. There are growing activities of drug and human traffickers, child labor, corruption, growing poverty, ecological issues and climatic changes along with growing radicals and extremist elements in the states of Central Asia. Security of Central Asian states depends significantly on the human security. Lasting security and development cannot be obtained unless and until various dimensions of human security become priority of the governments in the region. The improvement in this arena requires three level strategies: national, regional and international.

The present study examined the role of self-enhancement and self-criticism in the relationship between physical activity and anxiety. A total of 305 students from Chinese universities, ranging in age from 18 to 36, completed a questionnaire package comprising a physical activity questionnaire, a self-enhancement strategies scale, a level of self-criticism scale, and a short form of state and trait anxiety scale. Findings highlighted that physical activity had a significant negative correlation with anxiety (r = −0.31, p < 0.01), a significant positive association with self-enhancement (r = 0.43, p < 0.01), and a significant negative relationship with self-criticism (r = −0.14, p < 0.05). It was also found that anxiety was significantly predicted by self-enhancement (−0.21, p < 0.01) and self-criticism (0.44, p < 0.01). Moreover, the mediation model supports the mediation of self-enhancement and self-criticism between physical activity and anxiety in university students. The findings suggest that interventions aimed at promoting physical activity and enhancing the self-system should be worthy strategies for reducing students’ anxiety.

Childhood epilepsy continues to be intractable in more than 25% of patients diagnosed with epilepsy. The introduction of new anti-epileptic drugs (AEDs) provides more options for treatment of children with epilepsy. We review the safety and tolerability of seven new AEDs (levetiracetam, lamotrigine, oxcarbazepine, rufinamide, topiramate, vigabatrin and zonisamide) focusing on their side effect profiles and safety in children and adolescents. Many considerations that are specific for children such as the impact of AEDs on the developing brain are not addressed during the development of new AEDs. They are usually approved as adjunctive therapies based upon clinical trials involving adult patients with partial epilepsy. However, 2 of the AEDs reviewed here (rufinamide and vigabatrin) have FDA approval in the U.S. for specific Pediatric epilepsy syndromes, which are discussed below. The Pediatrician or Neurologists decision on the use of a new AED is an evolutionary process largely dependent on the patient characteristics, personal/peer experiences and literature about efficacy and safety profiles of these medications. Evidence based guidelines are limited due to a lack of randomized controlled trials involving pediatric patients for many of these new AEDs.

The purpose of this study was to explore individual, interpersonal, and organizational factors that may influence the physical activity of adolescents (ages 10–14) in Pakistani schools. A set of questionnaires that included individual, interpersonal, and organizational factors and PA behavior was completed by the 618 students selected from Pakistani schools. Stepwise forward regression model was applied to check the possible effects of multilevel variables on physical activity and to extract the stronger predictors. The results showed that physical activity was significantly predicted by individual level factors such as self-efficacy, motivation, and attitude. Among the demographic correlates, gender, age, and BMI did not affect physical activity, while socioeconomic status and geographic characteristics had a meaningful association with PA. At the interpersonal level, adolescents’ perception of family support had a potential influence on physical activity, while there was no impact of friends/peers and teachers support on adolescents’ PA. A school environmental characteristic, such as PA facility, was positively related to PA; however, the impact of PA equipment, safety, and policy and PA culture were statistically non-significant. The findings suggest that public health intervention strategies aimed at promoting PA in adolescents should recognize multiple levels of influences that may either enhance or impede the likelihood of PA among adolescents.

This study examined the effects of social support on the career exploration of university students in Pakistan. Nine hundred and seventy-three university students from Pakistan completed the measures of social support and career exploration. Regression analysis was applied to examine the impact of social support by family, friends, and significant others. The results revealed that career exploration is significantly predicted by family support (β = 0.063; p = 0.010), friend support (β = 0.081; p = 0.001), and teacher support (β = 0.065; p = 0.010). Moreover, total social support significantly predicts career exploration (β = 0.027; p = 0.003) of university students in Pakistan. These findings enhance our understanding of the factors influencing career exploration in university students. Further development of the research is discussed as well as possible educational implications.

Cognitive and interpersonal factors play an important role in the social adjustment of students. Factors affecting the social adjustment of university students have been verified in different cultures. However, no study has tested a concurrent model with the study variables in the Pakistani context. This study aimed to investigate the effect of personal and interpersonal factors on the social adjustment of university students in Pakistan. Three hundred participants from the Azad Jammu and Kashmir regions of Pakistan responded on a questionnaire package containing self-reported measures on social self-efficacy, social anxiety, teachers’ social support, and peers’ social support. The results indicate that self-efficacy, teachers’ support, and peer support have a significant positive effect on the social adjustment of university students, suggesting that an enhanced self-efficacy, and increased teachers’ and peers’ support would increase social adjustment. However, academic anxiety is inversely associated with social adjustment, suggesting that a higher anxiety level would result in a reduction in social adjustment. Students should be given more opportunities to enhance self-efficacy, obtain social support, and reduce social anxiety.