Objective: To explore the potential of using artificial intelligence (AI)-based eye tracking technology on a tablet for screening Attention-deficit/hyperactivity disorder (ADHD) symptoms in children.Methods: We recruited 112 children diagnosed with ADHD (ADHD group; mean age: 9.40 ± 1.70 years old) and 325 typically developing children (TD group; mean age: 9.45 ± 1.59 years old). We designed a data-driven end-to-end convolutional neural network appearance-based model to predict eye gaze to permit eye-tracking under low resolution and sampling rates. The participants then completed the eye tracking task on a tablet, which consisted of a simple fixation task as well as 14 prosaccade (looking toward target) and 14 antisaccade (looking away from target) trials, measuring attention and inhibition, respectively.Results: Two-way MANOVA analyses demonstrated that diagnosis and age had significant effects on performance on the fixation task [diagnosis: F_{(2, 432)} = 8.231, ^***p < 0.001; Wilks’ Λ = 0.963; age: F_{(2, 432)} = 3.999, *p < 0.019; Wilks’ Λ = 0.982], prosaccade task [age: F_{(16, 418)} = 3.847, ^***p < 0.001; Wilks’ Λ = 0.872], and antisaccade task [diagnosis: F_{(16, 418)} = 1.738, *p = 0.038; Wilks’ Λ = 0.938; age: F_{(16, 418)} = 4.508, ^***p < 0.001; Wilks’ Λ = 0.853]. Correlational analyses revealed that participants with higher SNAP-IV score were more likely to have shorter fixation duration and more fixation intervals (r = −0.160, 95% CI [0.250, 0.067], ^***p < 0.001), poorer scores on adjusted prosaccade accuracy, and poorer scores on antisaccade accuracy (Accuracy: r = −0.105, 95% CI [−0.197, −0.011], *p = 0.029; Adjusted accuracy: r = −0.108, 95% CI [−0.200, −0.015], *p = 0.024).Conclusion: Our AI-based eye tracking technology implemented on a tablet could reliably discriminate eye movements of the TD group and the ADHD group, providing a potential solution for ADHD screening outside of clinical settings.

We previously demonstrated that CBF activity is needed for cell proliferation and early embryonic development. To examine the in vivo function of CBF in differentiated hepatocytes, we conditionally deleted CBF-B in hepatocytes after birth. Deletion of CBF-B resulted in progressive liver injury and severe hepatocellular degeneration 4 weeks after birth. Electron microscopic examination demonstrated pleiotropic changes of hepatocytes including enlarged cell and nuclear size, intracellular lipid deposition, disorganized endoplasmic reticulum, and mitochondrial abnormalities. Gene expression analyses showed that deletion of CBF-B activated expression of specific endoplasmic reticulum (ER) stress-regulated genes. Inactivation of CBF-B also inhibited expression of C/EBP alpha, an important transcription factor controlling various metabolic processes in adult hepatocytes. Altogether, our study reveals for the first time that CBF is a key transcription factor controlling ER function and metabolic processes in mature hepatocytes.

Background: Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course. However, there are currently no clinical studies regarding the improvement in motor function and nutritional status of patients after loading period treatment with nusinersen. Here, we aimed to determine the efficacy of nusinersen in improving motor function and nutritional status in children with SMA treated with nusinersen after loading period in Western China. Methods: In this retrospective study, data for all pediatric patients (aged < 18 years), with genetically confirmed diagnosis of SMA who were treated with nusinersen, were collected before initiation of treatment and after 2 months of treatment. We assessed motor function using standardized scales and nutritional status of patients with SMA as well as side effects of nusinersen. Results: Forty-six pediatric patients aged < 18 years were enrolled in this study. After 2 months of treatment, the motor function of patients with SMA type 1, 2, and 3 improved. The difference in Revised Upper Limb Module scores from M0 to M2 was significant in patients with SMA type 2 and 3 (P = 0.004, P = 0.042, respectively). The difference in Hammersmith Functional Motor Scale Expanded scores from M0 to M2 in patients with SMA type 2 was also significant (P = 0.000). No significant differences were found for Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorder (CHOP-INTEND), Hammersmith Infant Neurologic Examination-Part 2 (HINE-2), and 6-Minute Walking Test (6MWT) scores between M0 and M2, but the scores of CHOP-INTEND, HINE-2, and 6MWT were all increased after loading period treatment. The overall improvement in nutritional status was not statistically significant. No serious adverse effects were observed. Conclusions: Our study provides evidence for the efficacy and safety of nusinersen and the nutritional status of pediatric patients with SMA after the loading period treatment. Motor function of all patients improved after 2 months of loading period nusinersen treatment. Patients with a shorter disease duration showed better response to treatment. Careful surveillance of nutritional status is needed in patients with SMA.

Objective: This study was based on a retrospective clinical observational cohort study of a two‐center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal muscular atrophy) Types 1–3.Methods: Clinical data from children with clinically and genetically confirmed 5qSMA from a double center in western China (the Second Affiliated Hospital of Xi'an Jiaotong University and the Second Hospital of West China of Sichuan University). All children were younger than 18 years of age. Patients were assessed for motor function and underwent blood and fluid tests before each nusinersen injection.Results: At 14‐month follow‐up, 100% of children had improved their HFMSE (Hammersmith Functional Motor Scale Expanded) score, 83.6% had improved their CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score, and 66.6% had improved their RULM (Revised Upper Limb Module) score by ≥3 points from baseline, and their 6MWT (6‐min walk test) was 216.00 ± 52.08 m longer than at baseline. The age of the child at the start of treatment was negatively correlated with the clinical efficacy of nusinersen; the younger the child, the better the response to treatment. No significant adverse effects affecting the treatment and quality of life of the child were observed during the treatment of SMA with nusinersen.Conclusion: This study concluded that nusinersen is clinically beneficial for children with SMA in western China, with mild adverse effects.