Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.

Sarcolipin (SLN) is a low-molecular-weight protein that copurifies with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase (SERCA1). Genomic DNA and cDNA encoding human sarcolipin (SLN) were isolated and characterized and the SLN gene was mapped to chromosome 11q22-q23. Human, rabbit, and mouse cDNAs encode a protein of 31 amino acids.

Polyneuropathies associated with high titre antisulphatide antibodies: characteristics of patients with and without serum monoclonal proteins.

Objectives: Previous studies of small numbers of patients have shown that antisulphatide autoantibodies are associated with polyneuropathies having a prominent sensory component. However, clinical and electrodiagnostic features are variable. The range of clinical and electrodiagnostic findings in 19 patients with polyneuropathies and high titre (> 4500) serum IgM antisulphatide antibodies is described, together with testing for serum monoclonal (M) proteins.

Rheb interacts with Raf-1 kinase and may function to integrate growth factor- and protein kinase A-dependent signals.

Rheb is a recently described member of the Ras family that was originally identified as an immediate-early gene in brain but is also widely expressed in other tissues. Here we demonstrate that Rheb interacts with and appears to regulate Raf-1 kinase, an essential component of the H-Ras signaling pathway. In direct contrast to H-Ras, however, the interaction of Rheb with Raf-1 is potentiated by growth factors in combination with agents that increase cyclic AMP (cAMP) levels.

Serum IgM monoclonal autoantibody binding to the 301 to 314 amino acid epitope of beta-tubulin: clinical association with slowly progressive demyelinating polyneuropathy.

We identified five patients with IgM monoclonal autoantibodies that bound to human brain tubulin. In a companion study, we found that IgM in these sera selectively recognized one of three epitopes on tubulin. IgM from three patients bound selectively to a small epitope on human beta-tubulin comprising amino acids 301 to 314.

Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics.

Axonal forms of autosomal dominant hereditary motor and sensory neuropathies (HMSNs) represent a heterogeneous group of disorders based on genetic linkage studies. We recently identified one large family with axonal HMSN exhibiting linkage to chromosome 3q, designated HMSN IIB, and report here the clinical and electrodiagnostic features. We clinically evaluated 10 individuals with HMSN IIB and performed detailed electrophysiologic studies in 5 of these patients.

Childhood chronic inflammatory demyelinating neuropathies: clinical course and long-term follow-up.

Chronic inflammatory demyelinating neuropathy (CIDP) is a rare disease in childhood. We reviewed the clinical characteristics, response to therapy, and long-term prognosis in 13 children (1.5 to 16 years of age) diagnosed with CIDP at Washington University Medical Center, St.

Glucocorticoid-induced tropoelastin expression is mediated via transforming growth factor-beta 3.

Glucocorticoids play a central role in fetal lung maturation. As fibroblasts have been shown to be an important target cell for glucocorticoids in fetal lung, we have recently cloned several cDNAs representing genes induced by cortisol in fetal rat lung fibroblasts. Approximately 30% of the cDNAs were identified as transforming growth factor (TGF)-beta 3.

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.

Genomic DNA and cDNA encoding human SERCA1, the Ca(2+)-ATPase of fast-twitch skeletal muscle sarcoplasmic reticulum (the ATP2A1 gene on chromosome 16p12), were isolated and characterized. The cDNA encodes 994 amino acids. The genomic DNA is 26 kb long and contains 23 exons, one of which can be alternatively spliced.

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy.

Behaviors associated with egg and parasite deposition by gravid and Lambornella clarki-infected Aedes sierrensis.

Egg- and Lambornella clarki-deposition behaviors by the treehole mosquito Aedes sierrensis were monitored inside laboratory deposition containers using a video camera. Gravid and infected mosquitoes were seen probing the substrate and in the water with their abdominal tips. Both eggs and parasites were recovered from the containers.

Free flight of Lambornella clarki-infected, blood-fed, and gravid Aedes sierrensis (Diptera: Culicidae).

Total flight times and flight numbers of Lambornella clarki Corliss & Coats-infected and uninfected nonblood-fed (control), blooded, and gravid Aedes sierrensis (Ludlow) were monitored in laboratory experiments using a free-flight acoustical system. Mean flight time and number of males were not affected by L. clarki infection, but mean flight time of infected females was significantly less than those of control and gravid females.

Developing a comprehensive medication reaction reporting system.

A step-by-step method for developing a comprehensive medication reaction reporting system is reported. The program was developed from information obtained by literature review, from the existing programs of other hospitals, and the authors' ideas. The following steps were developed and implemented after approval by the Pharmacy and Therapeutics Committee.

Tests of attentional flexibility in listening to polyrhythmic patterns.

Four experiments examined attentional flexibility in listening to polyrhythmic patterns. Musically trained and untrained listeners detected changes in timing of 1 tone (the lower tone) in a 3:2 polyrhythm in which high and low tones varied in frequency separation. Experiment 1 encouraged integrative attending; all listeners performed significantly poorer in conditions with wide as opposed to narrow frequency separations.

Tethered flight capabilities and survival of Lambornella clarki-infected, blood-fed, and gravid Aedes sierrensis (Diptera: Culicidae).

Flight capabilities and survival of Lambornella clarki Corliss & Coats-infected, control, blood-fed, and gravid Aedes sierrensis (Ludlow) were monitored using a tethered flight mill system and by recording deaths at various times after initiation of these tests. Flight capabilities of infected and control males as measured by total number of flights, total time spent flying, total distance flown, average flight speed, and percentage time flying were similar. Flight capabilities of females with parasites, with fresh blood meals, and with fully developed eggs did not differ significantly.

Cloning and expression of glucocorticoid-induced genes in fetal rat lung fibroblasts. Transforming growth factor-beta 3.

Glucocorticoids have been shown to accelerate fetal lung type II cell maturation, and this effect appears, in part, to be mediated via fibroblasts. To identify glucocorticoid induced genes in fetal lung fibroblasts, we screened a cDNA library from cortisol-treated fetal lung fibroblasts with a subtracted cDNA probe which was enriched for sequences specific for cortisol-treated fetal lung fibroblasts. Fifty-seven clones were isolated from the cDNA library.

Low itraconazole serum concentrations following administration of itraconazole suspension to critically ill allogeneic bone marrow transplant recipients.

Objective: To report itraconazole serum concentrations following administration of itraconazole suspension via orogastric feeding tubes to 2 critically ill allogeneic bone marrow transplant recipients.

Case Summaries: A 38-year-old man and a 29-year-old man, each allogeneic bone marrow transplant recipients, were treated with oral itraconazole for documented fungal infections. Intubation and mechanical ventilation impeded ingestion of itraconazole capsules.

Myopathy and paraproteinemia with serum IgM binding to a high-molecular-weight muscle fiber surface protein.

We evaluated a 69-year-old man with Waldenström's macroglobulinemia (IgM-kappa M-protein) and progressive weakness over 2 to 3 years. The neurological examination showed symmetrical, predominantly proximal weakness. Electrophysiological testing revealed small brief motor unit potentials with fibrillations and positive sharp waves consistent with an irritative myopathy.

Enhanced uniform phase conjugation in two-section asymmetric laser diodes.

Nearly degenerate four-wave mixing in two-section single-mode laser diodes with unequal (asymmetric) facet reflectivities is studied theoretically. It is demonstrated that, under appropriate biasing conditions, the device exhibits a uniform phase-conjugate reflectivity over a frequency detuning range of more than 10 GHz. We can simultaneously achieve enhancement of the four-wave-mixing bandwidth and efficiency by injecting the probe signal at and deriving the conjugate output from the low-reflectivity facet of an asymmetric two-section laser diode.

Short-term changes in the response characteristics of the human visual evoked potential.

The present study examined how the response characteristics of the visual evoked potential (VEP) varied during the course of trials using a sinusoidal grating stimulus that reversed contrast in a square-wave manner. To accomplish this, amplitude and phase values were derived in short segments during the course of continuous stimulation for three subjects. When stimulus spatial frequencies of 0.

Distal lower motor neuron syndrome with high-titer serum IgM anti-GM1 antibodies: improvement following immunotherapy with monthly plasma exchange and intravenous cyclophosphamide.

Motor neuropathies associated with electrodiagnostic evidence of motor conduction block often improve after treatment with immunotherapy, but there is less evidence about the responsiveness of lower motor neuron (LMN) syndromes without conduction block. In this study we treated four patients with an asymmetric, predominantly distal LMN syndrome associated with high serum titers of IgM anti-GM1 ganglioside antibodies but without conduction block on electrodiagnostic testing. Treatment courses consisted of five to seven repeated monthly regimens of plasma exchange on 2 consecutive days followed, on day 3, by intravenous cyclophosphamide (1 g/m2).

Calcium imaging of rhythmic network activity in the developing spinal cord of the chick embryo.

Video-rate imaging of spinal neurons loaded with calcium-sensitive dyes was used to investigate the calcium dynamics and cellular organization of spontaneously active rhythm-generating networks in the spinal cord of E9-E12 chick embryos. Spinal neurons were loaded with bath-applied fura-2am. Motoneurons were also loaded by retrograde labeling with dextran-conjugated, calcium-sensitive dyes.

Sensitivity to event timing in regular and irregular sequences: influences of musical skill.

In two experiments, the performance of listeners with different amounts of musical training (high skill, low skill) was examined in a two-alternative forced choice time-detection task involving simple five-cycle acoustic sequences. In each of a series of trials, all listeners determined which of two pattern cycles contained a small time change. Sequence context was also varied (regular vs.

rheb, a growth factor- and synaptic activity-regulated gene, encodes a novel Ras-related protein.

Neuronal activity results in long term cellular changes that underlie normal brain development and synaptic plasticity. To examine the molecular basis of activity-dependent plasticity, we have used differential cloning techniques to identify genes that are rapidly induced in brain neurons by synaptic activity. Here we describe an inducible novel member of the Ras family of small GTP-binding proteins we have termed Rheb.

Anti-MAG antibodies: major effects of antigen purity and antibody cross-reactivity on ELISA results and clinical correlation.

There is controversy regarding the relationship of polyneuropathy syndromes to the presence of serum antibody binding to myelin-associated glycoprotein (MAG). Using standard ELISA methodology, we identified 74 sera that appeared to have high titers of IgM binding to MAG and found that only 34% of these sera stained MAG using Western blot methodology. Follow-up studies showed that two factors greatly influence concordance between ELISA and Western blot testing for anti-MAG antibodies.