Preliminary observation on clinical outcome and safety of surgery in early infants (<12 months) with drug-resistant epilepsy.

Objective: To investigate the clinical outcomes and safety of surgery in infants (< 12 months of age) with drug-resistant epilepsy, clarify surgical indications, and select appropriate surgical methods.

Methods: This was a retrospective analysis of infants with drug-resistant epilepsy who underwent epilepsy surgery and were followed up for > 6 months at the Epilepsy Center of Shenzhen Children's Hospital. Clinical data included etiology, seizure type, surgical procedure, preoperative auxiliary examinations, pathological findings, and intraoperative and postoperative complications.

Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Background: PhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q13 genomic region, including the deletion of .

[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus].

Objective: To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.

Methods: The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.

Results: As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.

[Changes of immune function in patients with enterovirus 71 infection].

Objective: To investigate the association of changes in immune function with enterovirus 71 (EV71) cases with different severity of the disease.

Method: Forty-six EV71-infected patients and 12 age-matched healthy children were enrolled in this study. The patients were divided into four groups according to critical degree of enterovirus 71 infection: hand-foot-and-mouth disease (HFMD); central nervous system disease (CNSD); autonomic nervous system dysregulation (ANSD) and pulmonary edema (PE).

[Critical care and therapy based different illness state of 80 patients with severe hand-foot-and-mouth disease seen in Shenzhen].

Objective: To discuss the treatment strategy of severe hand-foot-and-mouth disease (HFMD) cases, prevent the severe cases from progressing to fatal condition and enhance the survival rate of critically ill patients.

Methods: Eighty HFMD cases were divided into four groups, A, B, C and D, according to the severity of patients' nervous system manifestation and other system involved. Different intensive care and treatments were used and the effect and outcome were analyzed for each group.

[Study of the clinical and laboratory features of hand-foot-mouth disease].

Objective: To study the clinical and laboratory features of the mild and severe hand-foot-mouth diseases (HFMD) in Shenzhen in 2008.

Methods: 145 cases were observed in East-Lake Hospital and Shenzhen Children's Hospital. Of the 145 cases, 124 mild cases and 21 severe cases were involved.