A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Objective: To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments.

Methods: Clinical and electrophysiologic data were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and electron microscopy. The ability of the mutant protein to form filaments was characterized in an established cell culture system.

Management of schizophrenia with obsessive-compulsive features.

Although obsessive-compulsive symptoms (OCS) in schizophrenia have been conceptually controversial and clinically challenging, recent evidence suggests that schizophrenia with OCS may constitute a distinct schizophrenic subgroup. Recent epidemiological and clinical findings have shown that the subgroup obsessive-compulsive (OC) schizophrenia is associated with poor outcome and is more frequent than previously realized. Emerging biological evidence suggests that OCS in schizophrenia has more than one pathogenesis, with distinct mechanisms that may require different treatment interventions.

Schizophrenia and eating disorders.

Schizophrenia requires diverse and individualized treatment approaches. Accurate identification and management of comorbid psychiatric syndromes determine outcome. Disturbances in eating and the distorted perception of body image are difficult to separate from other psychotic phenomena.

Clinical perspectives on autoimmune processes in schizophrenia.

This article reviews the epidemiology of autoimmune conditions in schizophrenia, symptom manifestations of autoimmune conditions resembling schizophrenia, and the immunological changes observed in schizophrenia; and reflects on their associations with neurodevelopment, neurodegeneration, clinical course, and management of schizophrenia.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.

Background: Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be causal for hereditary neuralgic amyotrophy (HNA), an episodic peripheral neuropathy with autosomal dominant inheritance. This duplication was identified in 12 pedigrees that all shared a common founder haplotype.

Changes in gene expression profile of medaka with acute toxicity of Arochlor 1260, a polychlorinated biphenyl mixture.

Differential gene expression profiling was performed with a cDNA microarray in the liver tissue of the medaka fish, Oryzias latipes, after exposure to Arochlor 1260, a polychlorinated biphenyl (PCB) mixture, which is used as a coolant and insulating fluid for transformers and capacitors and is classified as a persistent organic pollutant. Twenty-six differentially expressed candidate genes were identified. The expression of 12 genes was up-regulated and that of 14 genes was down-regulated.

Efficacy and tolerability of topiramate in pediatric migraine.

About 5-10% of school-age children manifest migraine headaches. Treatment options for pediatric migraine are limited. Topiramate is approved for migraine prophylaxis in adults, but its use in children is limited.

Usage of a fixed dose of radioactive iodine for the treatment of hyperthyroidism: one-year outcome in a regional hospital in Hong Kong.

Objectives: To evaluate the efficacy of a fixed dose of radioactive iodine (131-I) in the treatment of thyrotoxicosis, and to identify risk factors associated with treatment failure.

Design: Retrospective study.

Setting: Thyroid Clinic of a regional hospital in Hong Kong.

The role of the Ser/Thr cluster in the phosphorylation of PPPSP motifs in Wnt coreceptors.

Wnt/beta-catenin signaling controls a variety of cellular processes, including cell growth, oncogenesis, and development. Upon Wnt stimulation, the intracellular region of the coreceptor, LRP6 or 5, is phosphorylated by the membrane-recruited GSK3beta and CK1. The cytoplasmic domain of LRP6/5 contains one Ser/Thr cluster and the PPPSP motifs, both of which are essential for propagation of the signal.

Crystal structure of the periplasmic component of a tripartite macrolide-specific efflux pump.

In Gram-negative bacteria, type I protein secretion systems and tripartite drug efflux pumps have a periplasmic membrane fusion protein (MFP) as an essential component. MFPs bridge the outer membrane factor and an inner membrane transporter, although the oligomeric state of MFPs remains unclear. The most characterized MFP AcrA connects the outer membrane factor TolC and the resistance-nodulation-division-type efflux transporter AcrB, which is a major multidrug efflux pump in Escherichia coli.

Direct inhibition of GSK3beta by the phosphorylated cytoplasmic domain of LRP6 in Wnt/beta-catenin signaling.

Wnt/beta-catenin signaling plays a central role in development and is also involved in a diverse array of diseases. Binding of Wnts to the coreceptors Frizzled and LRP6/5 leads to phosphorylation of PPPSPxS motifs in the LRP6/5 intracellular region and the inhibition of GSK3beta bound to the scaffold protein Axin. However, it remains unknown how GSK3beta is specifically inhibited upon Wnt stimulation.

[Accessory splenic infarction presenting as a hemorrhagic tumor in the pancreas].

We present a case of intrapancreatic accessory splenic infarction in a 28-year-old woman. It was discovered during a workup for an acute right epigastric pain. Computed tomography imaging of abdomen demonstrated a hemorrhagic high attenuation with enhancing solid portion in the tail of pancreas.

Structural basis for the recognition of lysozyme by MliC, a periplasmic lysozyme inhibitor in Gram-negative bacteria.

Lysozymes are an important component of the innate immune system of animals that hydrolyze peptidoglycan, the major bacterial cell wall constituent. Many bacteria have contrived various means of dealing with this bactericidal enzyme, one of which is to produce lysozyme inhibitors. Recently, a novel family of bacterial lysozyme inhibitors was identified in various Gram-negative bacteria, named MliC (membrane bound lysozyme inhibitor of C-type lysozyme).

Transcripts level responses in a marine medaka (Oryzias javanicus) exposed to organophosphorus pesticide.

The differential expression of a set of genes encoding antioxidant enzymes and stress-responsive proteins was investigated by real-time quantitative PCR in intestine, liver, and muscle tissues extracted from Oryzias javanicus after exposure to the organophosphorus pesticide, Iprobenfos (IBP). After IBP exposure, transcriptional changes in all the tested genes were prominent in the liver and moderate in the intestine, but unpredictable in the muscle. In the liver, CAT transcription increased after exposure to IBP at all concentrations (P<0.

Effects of heavy metals on antioxidants and stress-responsive gene expression in Javanese medaka (Oryzias javanicus).

The differential expression of eight genes encoding stressor biomarkers was investigated by real-time quantitative PCR in liver tissue extracted from Javanese medaka after exposure to six heavy metals for 24 h. OjaCAT transcription increased in a dose-dependent manner during exposure to Cd, Cu, and Zn, but significantly decreased after exposure to Ag, Cr, and Ni. OjaCYP1A transcription decreased drastically on exposure to all heavy metals tested.

Expression and biochemical characterization of the periplasmic domain of bacterial outer membrane porin TdeA.

TolC is an outer membrane porin protein and an essential component of drug efflux and type-I secretion systems in Gram-negative bacteria. TolC comprises a periplasmic alpha- helical barrel domain and a membrane-embedded beta-barrel domain. TdeA, a functional and structural homolog of TolC, is required for toxin and drug export in the pathogenic oral bacterium Actinobacillus actinomycetemcomitans.

Contractile changes of the clitoral cavernous smooth muscle in female rabbits with experimentally induced overactive bladder.

Introduction: Recently, growing clinical evidence has suggested that sexual dysfunction is more prevalent in women with overactive bladder (OAB). Aims. However, there has been no basic research to clarify the relationship between OAB and female sexual dysfunction.

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

Mutations in GJB2 and GJB6, the genes that encode the human gap junction proteins connexin26 (Cx26) and connexin30 (Cx30), respectively, cause hearing loss. Cx26 and Cx30 are both expressed in the cochlea, leading to the potential formation of heteromeric hemichannels and heterotypic gap junction channels. To investigate their interactions, we expressed human Cx26 and Cx30 individually or together in HeLa cells.

A prospective trial comparing tension-free vaginal tape and transobturator vaginal tape inside-out for the surgical treatment of female stress urinary incontinence: 1-year followup.

Purpose: We prospectively compared the efficacy and safety of tension-free vaginal tape and transobturator vaginal tape inside-out for female stress urinary incontinence.

Materials And Methods: A total of 120 women with stress urinary incontinence were alternately assigned to the tension-free vaginal tape group (60) or the transobturator vaginal tape inside-out group (60). Preoperative evaluation included urodynamic study and a Korean version of the incontinence quality of life questionnaire.

Epileptic seizures in the pediatric intensive care unit setting.

Purpose: The clinical features of seizures occurring in the pediatric intensive care unit (PICU) setting are not well characterized. Adult ICU studies reveal an incidence of seizures ranging from 0.8% to 3.

Comet assay for the detection of genotoxicity in blood cells of flounder (Paralichthys olivaceus) exposed to sediments and polycyclic aromatic hydrocarbons.

To investigate the genotoxic effect of marine sediments on aquatic organism, sediment samples were collected from 13 sites along the coast of Gwangyang Bay (Korea). Concentrations of polycyclic aromatic hydrocarbons (PAHs) in sediments were determined and the relationship between exposure of flounder blood cells to sediment extracts and DNA single-strand breakage in the blood cells was examined using the comet assay. Levels of DNA damage were proportionally increased by exposure concentration and the highest sediment-associated DNA damage was observed at the station showing the highest PAHs contamination.

Heavy metal-induced differential gene expression of metallothionein in Javanese medaka, Oryzias javanicus.

A metallothionein (MT) gene was isolated for the first time from Javanese medaka, Oryzias javanicus, which shows high adaptability from freshwater to seawater. The full-length cDNA of MT from O. javanicus (OjaMT) comprises 349 bp, excluding the poly(A)+ stretch, and codes for a total of 60 amino acids.

Schizophrenia with obsessive compulsive features.

While the obsessive compulsive (OC) phenomena in schizophrenia have been described over the years, the condition has received increasing attention in recent years. The clinical and biological significance of OC symptoms in schizophrenia, however, still remain controversial. Although OC symptoms in schizophrenia were once thought to occur rarely and were associated with more benign clinical courses, recent studies have shown greater prevalence rate and poor outcome.

Efficacy and tolerability of topiramate in children younger than 2 years old.

To evaluate the efficacy and tolerability of topiramate in children with epilepsy younger than 2 years of age, we retrospectively reviewed the records of patients treated at our institution between 2001 and 2003. Thirteen children ages 5 to 23 months, five boys and eight girls, were identified. Seizure types were partial (five), generalized tonic-clonic (three), myoclonic (one), and infantile spasms (four).

Acute disseminated encephalomyelitis in children: discordant neurologic and neuroimaging abnormalities and response to plasmapheresis.

Objectives: To describe our experience with acute disseminated encephalomyelitis (ADEM), focusing on (1) the relationship between clinical course and MRI findings and (2) the response to plasmapheresis in a subgroup of patients.

Methods: A retrospective record review was conducted of 13 children who were admitted as inpatients with the diagnosis of ADEM during the period 1998-2003.

Results: Diagnosis was established by clinical signs and symptoms, cerebrospinal fluid changes and multifocal involvement of deep gray and white matter based on MRI.