A novel 5q35.3 subtelomeric deletion syndrome

We observed a novel 3.5 Mb 5q subtelomeric deletion in a 3-year-old girl with developmental delay, hypotonia and multiple minor anomalies. Comparison of her phenotype with the few published patients with terminal 5q35 deletions revealed several overlapping features, but also showed remarkable differences such as shortness of stature versus macrosomia. After the report of 5q35.3 microdeletions in Sotos syndrome we integrated the published BACs into the public draft sequence and exactly mapped the deletion size in our patient by FISH analysis with 15 BAC probes. We demonstrated that the deletion in our patient is immediately adjacent to the reported Sotos syndrome deletion site. Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion. We further showed in our patient that the deletion of the LCT(4) synthase gene results in a reduction of cysteinyl leukotriene synthesis to about 65% compared to normal values. The prenatal nuchal lymphedema associated with this deletion syndrome my be related to the deletion of the FLT4 gene causing autosomal dominant primary lymphedema and contributes to the differential diagnosis of increased fetal nuchal translucency.     

Direct detection and differentiation of Legionella spp. and Legionella pneumophila in clinical specimens by dual-color real-time PCR and melting curve analysis

A dual-color LightCycler PCR assay targeting the 16S rDNA gene of Legionella spp. was established. By using two pairs of hybridization probes, Legionella spp. and Legionella pneumophila could be detected and differentiated simultaneously. With 26 culture-positive and 42 culture-negative respiratory specimens from patients with atypical pneumonia, 100% sensitivity and specificity was observed for L. pneumophila.     

The psbA-gene from a red alga resembles those from Cyanobacteria and Cyanelles

Summary Plastid DNA (ptDNA) from the unicellular red alga Cyanidium caldarium was isolated. A 5.8 kb Eco RI, fragment containing the entire psbA-gene was cloned and the nucleotide sequence of the psbA-gene determined. At the carboxyl terminus the encoded protein (D1) contains the seven amino acid-insertion which was found to be typical of the cyanobacteria and the cyanelles of Cyanophora paradoxa. However, the overall sequence homology does not support a direct relationship between the plastids of Cyanidium, cyanelles and the cyanobacteria. As in other photosynthetic organisms the psbA-gene is transcribed as a monocistronic mRNA. The ribosomal RNA operon was located 4 kb upstream of the psbA-gene.     

Akute Schäden des proximalen Tubulusepithels der Rattenniere nach einer einmaligen hochdosierten Furosemid-Gabe

Zusammenfassung Eine einmalige intraperitoneale Furosemid-Gabe von 50–200 mg/kg KG führt in der Rattenniere zu Epithelschäden im Bereich der pars recta des proximalen Tubulus. Diese tubulären Veränderungen treten nicht auf, wenn der Furosemid-induzierte Wasser- und Elektrolytverlust durch einen experimentell angelegten vesico-venösen Shunt verhindert wird. Die Tubuluszellschäden werden als Folge einer intracellulären Furosemid-Anreicherung bei vermindertem intratubulären Harnstrom angesehen.Mit Unterstützung der Deutschen Forschungsgemeinschaft.     

Presynaptic short-term depression is maintained during regulation of transmitter release at a GABAergic synapse in rat hippocampus

To examine possible interactions between fast depression and modulation of inhibitory synaptic transmission in the hippocampus, we recorded from pairs of synaptically connected basket cells (BCs) and granule cells (GCs) in the dentate gyrus of rat brain slices at 34 °C. Multiple-pulse depression (MPD) was examined in trains of 5 or 10 inhibitory postsynaptic currents (IPSCs) evoked at frequencies of 10–00 Hz under several conditions that inhibit transmitter release: block of voltage-dependent Ca²⁺ channels by Cd²⁺ (10 μ m ), activation of γ-amino-butyric acid type B receptors (GABA_BRs) by baclofen (10 μ m ) and activation of muscarinic acetylcholine receptors (mAchRs) by carbachol (2 μ m ). All manipulations led to a substantial inhibition of synaptic transmission, reducing the amplitude of the first IPSC in the train (IPSC₁) by 72 %, 61 % and 29 %, respectively. However, MPD was largely preserved under these conditions (0.34 in control versus 0.31, 0.50 and 0.47 in the respective conditions at 50 Hz). Similarly, a theta burst stimulation (TBS) protocol reduced IPSC₁ by 54 %, but left MPD unchanged (0.40 in control and 0.39 during TBS). Analysis of both fractions of transmission failures and coefficients of variation (CV) of IPSC peak amplitudes suggested that MPD had a presynaptic expression site, independent of release probability. In conclusion, different types of presynaptic modulation of inhibitory synaptic transmission converge on a reduction of synaptic strength, while short-term dynamics are largely unchanged.     

Experimental evaluation of eye-blink parameters as a drowsiness measure

Drowsiness and increased tendency to fall asleep during daytime is still a generally underestimated problem. An increased tendency to fall asleep limits the efficiency at work and substantially increases the risk of accidents. Reduced alertness is difficult to assess, particularly under real life settings. Most of the available measuring procedures are laboratory-oriented and their applicability under field conditions is limited; their validity and sensitivity are often a matter of controversy. The spontaneous eye blink is considered to be a suitable ocular indicator for fatigue diagnostics. To evaluate eye blink parameters as a drowsiness indicator, a contact-free method for the measurement of spontaneous eye blinks was developed. An infrared sensor clipped to an eyeglass frame records eyelid movements continuously. In a series of sessions with 60 healthy adult participants, the validity of spontaneous blink parameters was investigated. The subjective state was determined by means of questionnaires immediately before the recording of eye blinks. The results show that several parameters of the spontaneous eye blink can be used as indicators in fatigue diagnostics. The parameters blink duration and reopening time in particular change reliably with increasing drowsiness. Furthermore, the proportion of long closure duration blinks proves to be an informative parameter. The results demonstrate that the measurement of eye blink parameters provides reliable information about drowsiness/sleepiness, which may also be applied to the continuous monitoring of the tendency to fall asleep. Electronic Publication     

The homogeneous photopolymerization of methyl methacrylate by colloidal cadmium sulfide

A completely new method of initiating the homogeneous radical polymerization of methyl methacrylate in bulk or in solution via the photogeneration of an electron hole pair in colloidal cadmium sulfide is presented. A polymerization mechanism involving an excited cadmium sulfide particle in both the initiation and termination steps is proposed. In the initiation a methyl methacrylate molecule is oxidized by a positive hole photogenerated in a CdS particle, which results in a novel chain-end structure of the poly(methyl methacrylate) (PMMA). Degradative chain transfer to reduced excited cadmium sulfide particles is responsible for chain termination. Thus, for the first time, a detailed polymerization mechanism in which all states of the polymerization, i.e., initiation, propagation, chain transfer and termination, is presented for the polymerization of vinyl monomers initiated by semiconductors. Thermogravimetry (TG) showed that the newly synthesized PMMA has greatly enhanced thermal stability when compared to normal radically prepared PMMA. In fact, the thermal stability approaches that of anionically prepared PMMA but is experimentally much easier to prepare. This technique enables the homogeneous embedding of CdS particles in a polymer matrix.