Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.

Missense mutations in the gamma2 subunit of gamma-aminobutyric acid (GABA) receptor gene have recently been described in families with idiopathic generalized epilepsies. This study aimed to evaluate whether polymorphisms of the gamma2 subunit of the GABA receptor gene are associated with idiopathic generalized epilepsies. A total of 77 children with idiopathic generalized epilepsies and 83 normal control subjects were included in the study.

Biological systems modeling and analysis: a biomolecular technique of the twenty-first century.

It is proposed that computational systems biology should be considered a biomolecular technique of the twenty-first century, because it complements experimental biology and bioinformatics in unique ways that will eventually lead to insights and a depth of understanding not achievable without systems approaches. This article begins with a summary of traditional and novel modeling techniques. In the second part, it proposes concept map modeling as a useful link between experimental biology and biological systems modeling and analysis.

Vein of Galen aneurysm complicated with pulmonary hypertension: report of one newborn case.

The vein of Galen aneurysm is a rarely seen congenital intracranial vascular malformation with abnormal aneurysmal dilation of the vein of Galen in neonatal stage. We report a full- term female newborn presented with intractable heart failure, pulmonary artery hypertension, and respiratory distress soon after birth, in whom persistent pulmonary hypertension of newborn was suspected initially. Further study by ultrasound revealed turbulent blood flow in the cerebral vascular lesion in the region of vein of Galen; therefore, secondary pulmonary artery hypertension complicated with 'steal' phenomenon was impressed.

Parameter estimation in biochemical systems models with alternating regression.

Background: The estimation of parameter values continues to be the bottleneck of the computational analysis of biological systems. It is therefore necessary to develop improved methods that are effective, fast, and scalable.

Results: We show here that alternating regression (AR), applied to S-system models and combined with methods for decoupling systems of differential equations, provides a fast new tool for identifying parameter values from time series data.

No association between TAP1 DpnII polymorphism and bronchopulmonary dysplasia.

The possibility that a family history of asthma may have a role in susceptibility to bronchopulmonary dysplasia (BPD) had been raised in several reports, and there was evidence of a strong association between transporter associated with antigen processing (TAP1) polymorphism and asthma in Taiwanese population. To test whether TAP polymorphism has a role in the BPD, we investigated the association between TAP1 polymorphism and BPD by analyzing the results of genotype distribution. The study included 224 ventilated preterm infants (<30 weeks) who had respiratory distress syndrome (RDS) and needed intermittent mandatory ventilation (IMV) during Jan.

In situ study of mass transfer in aqueous solutions under high pressures via Raman spectroscopy: a new method for the determination of diffusion coefficients of methane in water near hydrate formation conditions.

A new method was developed for in situ study of the diffusive transfer of methane in aqueous solution under high pressures near hydrate formation conditions within an optical capillary cell. Time-dependent Raman spectra of the solution at several different spots along the one-dimensional diffusion path were collected and thus the varying composition profile of the solution was monitored. Diffusion coefficients were estimated by the least squares method based on the variations in methane concentration data in space and time in the cell.

Inhibition of the expression of lysyl oxidase and its substrates in cadmium-resistant rat fetal lung fibroblasts.

Copper (Cu)-dependent lysyl oxidase (LO) catalyzes crosslinking of collagen and elastin stabilizing the extracellular matrix (ECM). Chronic inhalation of cadmium (Cd), a toxic metal, induces emphysema. To probe mechanisms of Cd injury to the lung, we developed Cd-resistant (CdR) cells from rat fetal lung fibroblasts (RFL6) by chronic exposure to CdCl(2) from 1 to 40 microM and further examined their expressions of LO, LO substrates, and Cu-scavenging thiols.

A clinical analysis of children with developmental delay.

The purpose of this study was to identify the functional domains and etiological risk factors of children with developmental delay (DD). During a 41-month period, a retrospective chart review was carried out on all 1192 patients who visited pediatric clinics for evaluation of developmental delay or behavioral problems. Etiological risk factors or associated disorders were identified after the completion of clinical evaluation and a series of laboratory investigations.

Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis.

Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by episodes of brief dystonia or choreoathetosis which is induced by sudden movement. We report the clinical manifestations and efficacy of treatment with carbamazepine in familial PKC. Seven patients from two families were diagnosed with PKC.

Dopamine receptor D2 gene polymorphisms are associated in Taiwanese children with Tourette syndrome.

The pathophysiology of Tourette syndrome may involve the dopamine system. Dysfunction of the dopamine receptor D2 gene leads to many neuropsychiatric disorders. The objective of this study is to test the hypothesis that the dopamine receptor D2 gene may play a role in Tourette syndrome.

Association analysis between Tourette's syndrome and dopamine D1 receptor gene in Taiwanese children.

Objective: Recent research suggests that Tourette's syndrome (TS) may result from a defect in the dopamine system. The dopamine 1 receptor (DRD1) gene is a candidate gene in the study of the etiology of neuropsychiatric diseases that may involve dopaminergic abnormalities. We sought to test the hypothesis that the DRD1 gene might play a role in TS.

Downregulation of lysyl oxidase and upregulation of cellular thiols in rat fetal lung fibroblasts treated with cigarette smoke condensate.

Lysyl oxidase (LO), a copper-dependent enzyme, plays a critical role in the formation and repair of the extracellular matrix (ECM) by catalyzing the crosslinking of elastin and collagen. To better understand mechanisms of cigarette smoke (CS)-induced emphysema, we examined changes in LO and its substrates, i.e.

Miller Fisher syndrome possibly related to mycoplasma pneumoniae infection: report of one case.

Ophthalmoplegia, ataxia, and areflexia were first described in 1956 by Miller Fisher and later were referred to as symptoms of Miller Fisher syndrome (MFS). This syndrome shares certain features with the Guillain-Barré syndrome (GBS), including areflexia, cerebrospinal fluid findings and often a postinfectious presentation. It was believed to be a variant of GBS, but Miller Fisher syndrome has several key clinical features which differ from GBS.

The genomic sequence of the accidental pathogen Legionella pneumophila.

We present the genomic sequence of Legionella pneumophila, the bacterial agent of Legionnaires' disease, a potentially fatal pneumonia acquired from aerosolized contaminated fresh water. The genome includes a 45-kilobase pair element that can exist in chromosomal and episomal forms, selective expansions of important gene families, genes for unexpected metabolic pathways, and previously unknown candidate virulence determinants. We highlight the genes that may account for Legionella's ability to survive in protozoa, mammalian macrophages, and inhospitable environmental niches and that may define new therapeutic targets.

Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures.

Various studies have shown that brain-derived neurotrophic factor (BDNF) increased neuronal excitability. We tested that BDNF might be involved in the etiology of febrile seizures (FSs). A total of 186 Taiwanese children were divided into two groups: (1) FSs (n = 104); (2) normal control subjects (n = 83).

The role of the frontal pursuit area in learning in smooth pursuit eye movements.

The frontal pursuit area (FPA) in the cerebral cortex is part of the circuit for smooth pursuit eye movements. The present paper asks whether the FPA is upstream, downstream, or at the site of learning in pursuit eye movements. Learning was induced by having monkeys repeatedly pursue targets that moved at one speed for 150 msec before changing speed.

Association of the nicotinic receptor beta 2 subunit and febrile seizures.

The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is to establish whether the monogenic epilepsy gene also contributes to the common epilepsies.

DNA sequence-specific recognition of peptides incorporating the HPRK and polyamide motifs.

Three peptide amides, HPRK(Py)(4)HPRK-NH(2) (PyH-12), HPRK(Py)(3)HPRK-NH(2) (PyH-11) and HPRK(Py)(2)HPRK-NH(2) (PyH-10), incorporating two HPRK motifs and various 4-amino-1-methylpyrrole-2-carboxylic acid residues (Py) were synthesized by solid-phase peptide methodology. The binding of these three peptides to a 5'-32P-labeled 158-mer DNA duplex (Watson fragment) and to a 5'-32P-labeled 135-mer DNA duplex (complementary Crick fragment) was investigated by quantitative DNase I footprinting. On the 158-mer Watson strand, the most distinctive DNase I blockages seen with all three peptides occur around positions 105-112 and 76-79, corresponding to the sequences 5'-GAGAAAAT-3' and 5'-CGGT-3', respectively.