Archive for May, 2008
Thursday, May 1st, 2008
In vivo DNA electrotransfer into muscle.
Naked plasmid DNA injected into skeletal muscle is taken up by muscle cells and the genes in the plasmid are expressed. Among the non-viral techniques for gene transfer in vivo, this method is especially simple, inexpensive, and safe. However, the ...
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Thursday, May 1st, 2008
Human chorionic villous macrophages as a fetal biological shield from maternal chorionic gonadotropin.
In addition to its most well characterized biological role in the rescue and maintenance of corpus luteum function, human chorionic gonadotropin (hCG) also stimulates the onset of fetal gonadal steroidogenesis. However, excess hCG ...
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Thursday, May 1st, 2008
Role of metalloproteinases at the onset of liver development.
At the onset of liver development, the hepatic precursor cells, namely, the hepatoblasts, derive from the ventral foregut endoderm and form a bud surrounded by a basement membrane (BM). To initiate liver growth, the hepatoblasts migrate across ...
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Thursday, May 1st, 2008
Value of Real Time Three-Dimensional Echocardiography in Patients with Hypertrophic Cardiomyopathy: Comparison with Two-Dimensional Echocardiography and Magnetic Resonance Imaging.
Real time three-dimensional echocardiography (RT3DE) has been demonstrated to be an accurate technique to quantify left ventricular (LV) volumes and function in different patient populations. We sought ...
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Thursday, May 1st, 2008
Anomalies of Left Coronary Artery Origin Affecting Surgical Repair of Hypoplastic Left Heart Syndrome and Shone Complex.
There has traditionally been less concern regarding coronary anomalies with left-sided congenital heart lesions such as hypoplastic left heart syndrome (HLHS)or Shone complex than with other lesions. However, coronary ...
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Thursday, May 1st, 2008
Tissue Doppler Derived Isovolumic Acceleration in Patients after Atrial Repair for Dextrotransposition of the Great Arteries.
Background: Ventricular dysfunction represents one of the major problems in the long-term follow-up of patients after atrial repair for dextrotransposition of the great arteries. We aimed to study the role ...
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Thursday, May 1st, 2008
Differences in Echocardiographic Assessment with Standard Doppler and Tissue Doppler Imaging of Left Ventricular Filling Pressure in Idiopathic and Ischemic Dilated Cardiomyopathy.
Background: In idiopathic and ischemic dilated cardiomyopathy (DCM) there are differences in left atrial and ventricular relaxation. We assessed the hypothesis of an influence ...
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Thursday, May 1st, 2008
Side Effects of High-Dose Dobutamine Are Not Prevented by Normal Saline Infusion in Dobutamine Stress Echocardiography.
High-dose dobutamine used in dobutamine stress echocardiography (DSE) has hemodynamically based side effects due to a variable combination of beta1 (inotropic) and beta2 (vasodilator) effects. Of concern is the development ...
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Thursday, May 1st, 2008
Utility of Right Ventricular Tissue Doppler Imaging: Correlation with Right Heart Catheterization.
Objectives: The objective of this study was to correlate tissue Doppler imaging of the right ventricle (RV) with pulmonary hemodynamics in patients referred for right heart catheterization. Methods: Seventy subjects (mean age 54 +/- ...
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Thursday, May 1st, 2008
Is There Any Relationship between Metabolic Parameters and Left Ventricular Functions in Type 2 Diabetic Patients without Evident Heart Disease?
Background: The aim of the present study was to evaluate left ventricle (LV) systolic and diastolic function, using tissue Doppler echocardiography (TDE) and color M-mode flow ...
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Thursday, May 1st, 2008
Riluzole blocks persistent Na(+) and Ca(2+) currents and modulates release of glutamate via presynaptic NMDA receptors on neonatal rat hypoglossal motoneurons in vitro.
The neuroprotective agent riluzole is used for the symptomatic treatment of motoneuron disease, which strongly affects the brainstem nucleus hypoglossus. The mechanism of ...
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Thursday, May 1st, 2008
Altered neurovascular coupling during information-processing states.
Brain imaging techniques rely on changes in blood flow, volume and oxygenation to infer the loci and magnitude of changes in activity. Although progress has been made in understanding the link between stimulus-evoked neural activity and haemodynamics, the extent to ...
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Thursday, May 1st, 2008
Glomerular activation patterns and the perception of odor mixtures.
Odor mixtures can produce several qualitatively different percepts; it is not known at which stage of processing these are determined. We asked if activity within the first stage of olfactory processing, the glomerular layer of the olfactory ...
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Thursday, May 1st, 2008
Calcium-activated potassium currents differentially modulate respiratory rhythm generation.
The pre-Bötzinger complex (PBC) generates eupnea and sighs in normoxia and gasping during hypoxia through particular mixtures of intrinsic and synaptic properties. Among intrinsic properties, little is known about the role of Ca(2+)-activated potassium channels in respiratory rhythms ...
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Thursday, May 1st, 2008
Despite GABAergic neurotransmission, GABAergic innervation does not compensate for the defect in glycine receptor postsynaptic aggregation in spastic mice.
In the hypoglossal nucleus of wild-type mice, early mixed glycinergic-GABAergic inhibitory transmission becomes mainly glycinergic during postnatal maturation. In spastic mice (SPA), a model of human hyperekplexic ...
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Thursday, May 1st, 2008
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. ...
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Thursday, May 1st, 2008
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in ...
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Thursday, May 1st, 2008
Concurrent microdeletion and duplication of 22q11.2.
Microduplication of 22q11.2 has been reported in fewer than 40 cases, all of them including the DiGeorge critical region (DGCR). We here present the characterization of a new duplication that does not include the DGCR. The duplication was initially found ...
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Thursday, May 1st, 2008
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
Autosomal recessive hypotrichosis is a rare hereditary disorder characterized by sparse hair on scalp and rest of the body of affected subjects. Recently, three clinically similar autosomal recessive forms of hypotrichosis [localized autosomal recessive ...
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Thursday, May 1st, 2008
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by lysosomal storage of several glycosphingolipids, affecting virtually all organs and systems. Enzyme ...
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Thursday, May 1st, 2008
Knowledge and impressions regarding the concept of mutation among Japanese university students.
Although the term mutation is frequently used in genetic counseling, it may carry negative connotations and create misunderstanding. Our objective was to investigate the relationship between the impressions regarding three Japanese terms mutation of ...
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Thursday, May 1st, 2008
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified ...
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Thursday, May 1st, 2008
Mixed-lineage eosinophil/basophil crisis in MDS: a rare form of progression.
Background Basophilic crisis and eosinophilia are well recognized features of advanced chronic myeloid leukaemia. In other myeloid neoplasms, however, transformation with marked basophilia and eosinophilia is considered unusual. Design We examined the long-term follow-up of 322 ...
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Thursday, May 1st, 2008
Respiratory infection recurrence and passive smoking in early atherosclerosis in children and adolescents with type 1 diabetes.
Background Optimal glucose control in juvenile type 1 diabetes mellitus is necessary but not sufficient to reduce the burden of cardiovascular events in later life. This emphasizes the importance ...
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Thursday, May 1st, 2008
Requirements for chromatin reassembly during transcriptional downregulation of a heat shock gene in Saccharomyces cerevisiae.
Heat shock genes respond to moderate heat stress by a wave of transcription. The induction phase is accompanied by the massive eviction of histones, which later reassemble with DNA during the ...
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