Xiu‐Yu Shi
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View article: Advanced data analysis and prediction model for student mental health risk assessment
Advanced data analysis and prediction model for student mental health risk assessment Open
With the increasing prevalence of mental health issues among students, early detection plays a crucial role in ensuring timely intervention. Existing methods struggle to capture the complex relationships among diverse data sources, such as…
View article: Optimizing anti-seizure medication selection for epilepsy in EAST/SeSAME syndrome: Insights from DrugBank and STRING databases
Optimizing anti-seizure medication selection for epilepsy in EAST/SeSAME syndrome: Insights from DrugBank and STRING databases Open
View article: Molecular Screening of <scp><i>SCN1A</i></scp>‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution
Molecular Screening of <span><i>SCN1A</i></span>‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution Open
Objective SCN1A ‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in …
View article: HuMSCs-derived exosomal YBX1 participates in oxidative damage repair in granulosa cells by stabilizing COX5B mRNA in an m5C-dependent manner
HuMSCs-derived exosomal YBX1 participates in oxidative damage repair in granulosa cells by stabilizing COX5B mRNA in an m5C-dependent manner Open
Mitochondrial dysfunction and cell senescence are triggered by reactive oxygen species (ROS) in granulosa cells (GCs), leading to premature ovarian insufficiency (POI). Human umbilical cord mesenchymal stem cell-derived exosome (HuMSCs-Ex,…
View article: Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome
Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome Open
View article: Exhaustive clinical examination of etiology and initial response to first‐line treatment in 577 children with infantile epileptic spasm syndrome children: A 5‐year retrospective observational study
Exhaustive clinical examination of etiology and initial response to first‐line treatment in 577 children with infantile epileptic spasm syndrome children: A 5‐year retrospective observational study Open
Objective Employing whole‐exome sequencing (WES) technology to investigate the etiology of infantile epileptic spasm syndrome (IESS), and determining whether different etiologies exhibit phenotypic variations, while elucidating the potenti…
View article: Tongue Biting Event in Patients with Sleep-Related Facial Mandibular Myoclonus: A Case Series Study
Tongue Biting Event in Patients with Sleep-Related Facial Mandibular Myoclonus: A Case Series Study Open
SRFMM is a characteristic parasomnia manifested by tongue biting and accompanying facial mandibular myoclonus, leading to disrupted sleep. Besides adults, infants can also experience SRFMM with spontaneous remission. Most patients respond …
View article: Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation
Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation Open
Perforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophag…
View article: Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study
Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study Open
View article: Abnormalities in <i>Clostridioides</i> and related metabolites before <scp>ACTH</scp> treatment may be associated with its efficacy in patients with infantile epileptic spasm syndrome
Abnormalities in <i>Clostridioides</i> and related metabolites before <span>ACTH</span> treatment may be associated with its efficacy in patients with infantile epileptic spasm syndrome Open
Objective Adrenocorticotropic hormone (ACTH) is the first‐line treatment of infantile epileptic spasm syndrome (IESS). Its reported effectiveness varies, and our current understanding regarding the role of gut microbiota composition in IES…
View article: Safety and efficacy of plasma exchange treatment in children with AQP4-IgG positive neuromyelitis optica spectrum disorder
Safety and efficacy of plasma exchange treatment in children with AQP4-IgG positive neuromyelitis optica spectrum disorder Open
Neuromyelitis optica spectrum disorder (NMOSD), a severe demyelinating disease, is rare among children. Plasma exchange (PE) is widely used as a salvage therapy for severe and corticosteroid-unresponsive patients with NMOSD. Presently, the…
View article: Melatonin supplementation for the treatment of infantile spasms: protocol for a randomised placebo-controlled triple-blind trial
Melatonin supplementation for the treatment of infantile spasms: protocol for a randomised placebo-controlled triple-blind trial Open
Introduction Infantile spasms (IS) is a type of severe epileptic encephalopathy that occurs in infancy and early childhood. IS is characterised clinically by epileptic spasms, often accompanied by sleep disorder and abnormal circadian rhyt…
View article: Assessing Risk for Relapse among Children with Infantile Spasms Using the Based Score after ACTH Treatment: A Retrospective Study
Assessing Risk for Relapse among Children with Infantile Spasms Using the Based Score after ACTH Treatment: A Retrospective Study Open
This study suggests the BASED score after ACTH treatment has potential value as a predictor for relapse after initial response. Children with IS who have a BASED score greater than or equal to 3 after the initial response of ACTH carry a h…
View article: Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable?
Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable? Open
Background: Vigabatrin (VGB) is currently the most widely prescribed first-line medication for individuals with infantile spasms (IS) and especially for those with tuberous sclerosis complex (TSC), with demonstrated efficacy. Meanwhile, it…
View article: Vagus Nerve Stimulation Therapy for the Treatment of Seizures in Refractory Postencephalitic Epilepsy: A Retrospective Study
Vagus Nerve Stimulation Therapy for the Treatment of Seizures in Refractory Postencephalitic Epilepsy: A Retrospective Study Open
Background Vagus nerve stimulation (VNS) has been demonstrated to be safe and effective for patients with refractory epilepsy, but there are few reports on the use of VNS for postencephalitic epilepsy (PEE). This retrospective study aimed …
View article: Investigation of the association between imbalance of the intestinal flora and infantile spasms: a pilot case-control study
Investigation of the association between imbalance of the intestinal flora and infantile spasms: a pilot case-control study Open
Our analysis demonstrated that imbalance of the IF may be involved in the pathogenesis of IS and is related to response to ACTH. Regulating the composition of the IF may pave the way to developing a potential adjuvant therapy for patients …
View article: Cesarean Section Due to Social Factors Affects Children's Psychology and Behavior: A Retrospective Cohort Study
Cesarean Section Due to Social Factors Affects Children's Psychology and Behavior: A Retrospective Cohort Study Open
Background: Cesarean section (CS) use has reached a frequency well-above what is expected on the basis of obstetric indications. The large increase in CS use, often for non-medical indications, is of concern given the risks for both women …
View article: Clinical characteristics and treatment outcomes of pediatric patients with postencephalitic epilepsy characterized by epileptic spasms
Clinical characteristics and treatment outcomes of pediatric patients with postencephalitic epilepsy characterized by epileptic spasms Open
View article: Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex Open
View article: Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review
Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review Open
Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malfo…
View article: [Factors in first-time adrenocorticotropic hormone therapy and their influence on spasm control time in infantile spasms: a Cox proportional-hazards regression model analysis].
[Factors in first-time adrenocorticotropic hormone therapy and their influence on spasm control time in infantile spasms: a Cox proportional-hazards regression model analysis]. Open
For infants with infantile spasms at initial diagnosis, etiology should be clarified, which may helpful for evaluating prognosis. A combination of ACTH and magnesium sulfate should be given as soon as possible, which may improve their prog…
View article: Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study
Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study Open
View article: Clinical features of benign epilepsy of childhood with centrotemporal spikes in chinese children
Clinical features of benign epilepsy of childhood with centrotemporal spikes in chinese children Open
This multicenter clinical trial was conducted to examine current practice of benign epilepsy with centrotemporal spikes and especially address the question that in what circumstances 1 antiepileptic drug (AED) should be preferred.Twenty-fi…
View article: Epileptic seizure, as the first symptom of hypoparathyroidism in children, does not require antiepileptic drugs
Epileptic seizure, as the first symptom of hypoparathyroidism in children, does not require antiepileptic drugs Open
Thus, AED treatment cannot improve the seizure outcomes in children with parathyroid disorder, even in such cases as suspected structural seizure caused by subcortical calcifications. Clinicians must take adequate considerations on the use…
View article: Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation Open
View article: Neonatal hypoglycemic brain injury is a cause of infantile spasms
Neonatal hypoglycemic brain injury is a cause of infantile spasms Open
Neonatal hypoglycemic brain injury is one of the causes of infantile spasms. In the present study, the clinical history and auxiliary examination results of 18 patients who developed infantile spasms several months after neonatal hypoglyce…
View article: Association analysis of polymorphisms of the CRHR1 gene with infantile spasms
Association analysis of polymorphisms of the CRHR1 gene with infantile spasms Open
While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction we…