Identification of a novel Shank2 transcriptional variant in Shank2 knockout mouse model of autism spectrum disorder.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that are highly heterogeneous in clinical symptoms as well as etiologies. Mutations in SHANK2 are associated with ASD and accordingly, Shank2 knockout mouse shows ASD-like behavioral phenotypes, including social deficits. Intriguingly, two lines of Shank2 knockout (KO) mouse generated by deleting different exons (exon 6-7 or exon 7) showed distinct cellular phenotypes.

Spatial Learning and Motor Deficits in () Mutant Mouse.

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the gene are associated with Cohen syndrome and other cognitive disorders such as intellectual disabilities and autism spectrum disorder (ASD). However, the pathophysiology of VPS13B-associated cognitive deficits is unclear, in part, due to the lack of animal models.

Efficacy and Safety of Infliximab Therapy and Predictors of Response in Korean Patients with Crohn's Disease: A Nationwide, Multicenter Study.

Purpose: Infliximab is currently used for the treatment of active Crohn's disease (CD). We aimed to assess the efficacy and safety of infliximab therapy and to determine the predictors of response in Korean patients with CD.

Materials And Methods: A total of 317 patients who received at least one infliximab infusion for active luminal CD (n=198) and fistulizing CD (n=86) or both (n=33) were reviewed retrospectively in 29 Korean referral centers.

Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and autism. TSC is inherited in an autosomal dominant pattern and is caused by mutations in either the TSC1 or TSC2 genes, which enhance activation of the mammalian target of rapamycin (mTOR) signaling pathway. Recent studies have suggested that mTOR inhibitors such as rapamycin can reverse TSC-associated deficits in rodent models of TSC.

Comparison of Endoscopic Submucosal Dissection and Surgery for Differentiated Type Early Gastric Cancer within the Expanded Criteria.

Background/aims: Endoscopic submucosal dissection (ESD) is a novel alternative treatment for differentiated early gastric cancer (EGC) without lymph node metastasis. We conducted this study to verify the therapeutic usefulness of ESD for treating differentiated EGC compared to that of surgery.

Methods: This is a retrospective cohort study of 382 patients treated with differentiated EGC from March 2006 to May 2010.

Epac2 contributes to PACAP-induced astrocytic differentiation through calcium ion influx in neural precursor cells.

Astrocytes play a critical role in normal brain functions and maintaining the brain microenvironment, and defects in astrocytogenesis during neurodevelopment could give rise to severe mental illness and psychiatric disorders. During neuro-embryogenesis, astrocytogenesis involves astrocytic differentiation of neural precursor cells (NPCs) induced by signals from ciliary neurotrophic factor (CNTF) or pituitary adenylate cyclase-activating peptide (PACAP). However, in contrast to the CNTF signaling pathway, the exact mechanism underlying astrocytic differentiation induced by PACAP is unknown.

A video based feedback system for control of an active commutator during behavioral physiology.

Background: To investigate the relationship between neural function and behavior it is necessary to record neuronal activity in the brains of freely behaving animals, a technique that typically involves tethering to a data acquisition system. Optimally this approach allows animals to behave without any interference of movement or task performance. Currently many laboratories in the cognitive and behavioral neuroscience fields employ commercial motorized commutator systems using torque sensors to detect tether movement induced by the trajectory behaviors of animals.

Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social cognition, language development, and repetitive/restricted behaviors. Due to the complexity and heterogeneity of ASD and lack of a proper human cellular model system, the pathophysiological mechanism of ASD during the developmental process is largely unknown. However, recent progress in induced pluripotent stem cell (iPSC) technology as well as in vitro neural differentiation techniques have allowed us to functionally characterize neurons and analyze cortical development during neural differentiation.

Involvement of cAMP-guanine nucleotide exchange factor II in hippocampal long-term depression and behavioral flexibility.

Background: Guanine nucleotide exchange factors (GEFs) activate small GTPases that are involved in several cellular functions. cAMP-guanine nucleotide exchange factor II (cAMP-GEF II) acts as a target for cAMP independently of protein kinase A (PKA) and functions as a GEF for Rap1 and Rap2. Although cAMP-GEF II is expressed abundantly in several brain areas including the cortex, striatum, and hippocampus, its specific function and possible role in hippocampal synaptic plasticity and cognitive processes remain elusive.

Pain perception in acute model mice of Parkinson's disease induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).

Background: Pain is the most prominent non-motor symptom observed in patients with Parkinson's disease (PD). However, the mechanisms underlying the generation of pain in PD have not been well studied. We used a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced mouse model of PD to analyze the relationship between pain sensory abnormalities and the degeneration of dopaminergic neurons.

Differential expression of hyperpolarization-activated cyclic nucleotide-gated channel subunits during hippocampal development in the mouse.

Background: Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels help control the rhythmic activation of pacemaker neurons during brain development. However, little is known about the timing and cell type specificity of the expression of HCN isoforms during development of the hippocampus.

Results: Here we examined the developmental expression of the brain-enriched HCN1, HCN2, and HCN4 isoforms of HCN channels in mouse hippocampus from embryonic to postnatal stages.

Temperature-dependent bursting pattern analysis by modified Plant model.

Many electrophysiological properties of neuron including firing rates and rhythmical oscillation change in response to a temperature variation, but the mechanism underlying these correlations remains unverified. In this study, we analyzed various action potential (AP) parameters of bursting pacemaker neurons in the abdominal ganglion of Aplysia juliana to examine whether or not bursting patterns are altered in response to temperature change. Here we found that the inter-burst interval, burst duration, and number of spike during burst decreased as temperature increased.

Survival benefit of laparoscopic surgical staging-guided radiation therapy in locally advanced cervical cancer.

Objective: This study was designed to evaluate the survival benefit of laparoscopic surgical staging (LSS)-guided tailored radiation therapy (RT) in locally advanced cervical cancer (LACC).

Methods: We retrospectively reviewed 89 LACC patients' medical records who primarily received non-surgical treatment, of which pretreatment LSS was performed in 20 (LSS group) and primary chemoradiation therapy (CCRT) without LSS (CCRT group) was carried out in 69 from January 2000 to January 2006. We analyzed clinical characteristics, pretreatment imaging study results and survival outcomes including disease free survival (DFS) and overall survival (OS) to compare them between the two groups.

Analysis of factors affecting vaginal hysterectomy.

The study analyzes factors that affect vaginal hysterectomy to establish the indications of a vaginal approach to benign uterine disease. In a retrospective study, 174 patients underwent vaginal hysterectomy for uterine leiomyomas or adenomyosis by one gynecologist between December 2005 and December 2006. All data were compared and analyzed by X(2)- test, t-test, and multiple logistic regression.