Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.

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 hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-year-old girl with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), followed by a rapidly progressive onset of hemophagocytic lymphohistiocytosis (HLH) 9 months later, alongside manifestations of demyelinating encephalopathy.

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

Objective: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism.

Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable?

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, its adverse events, such as vigabatrin-associated brain abnormalities on magnetic resonance imaging (MRI; VABAM), have also been widely reported.

Objectives: The objectives of this study were to observe the occurrences of VABAM in patients with IS caused by TSC (IST) and further explore the associated risk factors.

The Efficacy of Fecal Microbiota Transplantation for Children With Tourette Syndrome: A Preliminary Study.

Therapies for Tourette syndrome (TS) are insufficient, and novel therapies are needed. Fecal microbiota transplantation (FMT) has been a potential therapy for several neurological diseases. Here, we report a preliminary study to investigate the effects of FMT on patients with TS.

The Instigation of the Associations Between Melatonin, Circadian Genes, and Epileptic Spasms in Infant Rats.

Infantile spasm (IS) is one of the most common catastrophic epilepsy syndromes in infancy characterized by epileptic spasm. While adrenocorticotropic hormone (ACTH) is the first-line treatment for IS, it is evident that the seizures associated with IS exhibit a clear circadian rhythm; however, the precise mechanisms underlying such seizures remain unclear. Melatonin is an important amine hormone and is regulated by circadian rhythm.

Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review.

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 malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera.

Establishment and utility assessment of posterior reversible encephalopathy syndrome early warning scoring (PEWS) scale establishment and utility assessment of PEWS scale.

Background: Posterior reversible encephalopathy syndrome (PRES) is a complication that occurs during various diseases' treatment. Imaging examination is the gold standard for diagnosis. PRES frequently occurrence in patients with hematological malignancies results in poorer prognosis and higher mortality.

Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study.

Background: In previous study, we have found intermittent oral levetiracetam (LEV) can effectively prevent recurrence of febrile seizure (FS). This study aimed to analyze the effects of the preventive on the patients with frequent FS accompanied with epileptiform discharge.

Methods: Patients with frequent FS were assigned to undergo Electroencephalogram (EEG).

Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications. There are currently no effective treatments for BRBNS.

Hypercapnia-induced brain acidosis: Effects and putative mechanisms on acute kainate induced seizures.

Aims: This study investigated the mechanism of the anticonvulsant effects of carbogen containing 5% CO in a kainic acid (KA) rat model.

Main Methods: Four-week-old Sprague-Dawley rats were divided into four groups: control, carbogen, KA+air, and KA+carbogen. Carbogen containing 5% CO was applied immediately after KA injection, and cortical pH was recorded.

Epileptic seizure, as the first symptom of hypoparathyroidism in children, does not require antiepileptic drugs.

Objective: Patients with hypoparathyroidism exhibit metabolic disorders (hypocalcemia) and brain structural abnormalities (brain calcifications). Currently, studies have determined whether antiepileptic drug (AED) treatment is required for epileptic seizures in children with hypoparathyroidism.

Method: This study aims to evaluate the data of two medical centers in Beijing based on the diagnosis of epileptic seizures as the first symptom of hypoparathyroidism in children.

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.

Background: Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia.

Levetiracetam: Probably Associated Diurnal Frequent Urination.

Diurnal frequent urination is a common condition in elementary school children who are especially at risk for associated somatic and behavioral problems. Levetiracetam (LEV) is a broad-spectrum antiepileptic drug that has been used in both partial and generalized seizures and less commonly adverse effects including psychiatric and behavioral problems. Diurnal frequent urination is not a well-known adverse effect of LEV.

Syndrome of Electrical Status Epilepticus During Sleep: Epileptic Encephalopathy Related to Brain Development.

Background: Epileptic encephalopathy with electrical status epilepticus during sleep is an age-related and self-limited disorder. The present study analyzed the etiology, demographics, and pathogenesis of patients with electrical status epilepticus during sleep to provide information on the diagnosis and therapy of this syndrome.

Methods: The etiologies of epileptic encephalopathy with electrical status epilepticus during sleep in patients admitted in Chinese People's Liberation Army General Hospital from 2009 to 2014 were retrospectively analyzed.

Development of a mouse model of infantile spasms induced by N-methyl-D-aspartate.

Using N-methyl-D-aspartate (NMDA) injection, we attempt to develop a mouse model for infantile spasms (IS). Experiments were performed in postnatal 11- to 13-day-old C57 and Balbc mice. In the pilot experiment, mice were injected with different doses of NMDA (7, 15, and 30 mg/kg) to determine the optimal age and convulsant doses of NMDA.

An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies.

Objective: To determine the etiology of epilepsy with continuous spikes and waves during slow sleep (CSWS)/electrical status epilepticus during sleep (ESES) in an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus.

Material & Methods: A combination of clinical characterization and follow-up, video EEG and laboratory investigations.

Results: We report the case of an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus, who presented with intellectual disability, pharmacotherapy-resistant epilepsy and CSWS/ESES.

Febrile seizure recurrence reduced by intermittent oral levetiracetam.

Objective: Febrile seizure (FS) is the most common form of childhood seizure disorders. FS is perhaps one of the most frequent causes of admittance to pediatric emergency wards worldwide. We aimed to identify a new, safe, and effective therapy for preventing FS recurrence.

Genetic and biochemical findings in Chinese children with Leigh syndrome.

This study investigated the genetic and enzymological features of Leigh syndrome due to respiratory chain complex deficiency in Chinese patients. The clinical features of 75 patients were recorded. Mitochondrial respiratory chain enzyme activities were determined via spectrophotometry.

[Electron microscopic analysis of biofilm on tracheal tubes removed from intubated neonates and the relationship between bilofilm and lower respiratory infection].

Objective: Mechanical ventilation support is a very important method for the salvage of serious patients. However, it can result in the formation of an adherent matrix of bacteria on the surfaces of implanted materials which is termed "biofilm". Biofilm is dense bacterial communities attached to a solid surface and surrounded by an exopolysaccharide matrix.

[Tracing magnetically labeled mesenchymal stem cells transplanted into rat livers by MRI].

Objective: To trace magnetically labeled MSCs transplanted into the rat livers by magnetic resonance imaging (MRI).

Methods: Feridex and DAPI labeled rat mesenchymal stem cells (MSCs) were injected via portal veins into carbon tetrachloride treated rats. MRI was performed with a clinical 1.