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排序方式: 共有986条查询结果,搜索用时 15 毫秒
91.
EM Maier J Pongratz AC Muntau B Liebl U Nennstiel-Ratzel U Busch R Fingerhut B Olgemöller AA Roscher W Röschinger 《Clinical genetics》2009,76(2):179-187
Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) represents a potentially fatal fatty acid β‐oxidation disorder. Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has been implemented worldwide, but is associated with unresolved questions regarding population heterogeneity, burden on healthy carriers, cut‐off policies, false‐positive and negative rates. In a retrospective case‐control study, 333 NBS samples showing borderline acylcarnitine patterns but not reaching recall criteria were genotyped for the two most common mutations (c.985A>G/c.199C>T) and compared with genotypes and acylcarnitines of 333 controls, 68 false‐positives, and 34 patients. c.985A>G was more frequently identified in the study group and false‐positives compared to controls (1:4.3/1:2.3 vs. 1:42), whereas c.199C>T was found more frequently only within the false‐positives (1:23). Biochemical criteria were devised to differentiate homozygous (c.985A>G), compound heterozygous (c.985A>G/c.199C>T), and heterozygous individuals. Four false‐negatives were identified because our initial algorithm required an elevation of octanoylcarnitine (C8) and three secondary markers in the initial and follow‐up sample. The new approach allowed a reduction of false‐positives (by defining high cut‐offs: 1.4 μmol/l for C8; 7 for C8/C12) and false‐negatives (by sequencing the ACADM gene of few suspicious samples). Our validation strategy is able to differentiate healthy carriers from patients doubling the positive predictive value (42→88%) and to target NBS to MCADD‐subsets with potentially higher risk of adverse outcome. It remains controversial, if NBS programs should aim at identifying all subsets of all diseases included. Because the natural course of milder variants cannot be assessed by observational studies, our strategy could serve as a general model for evaluation of MS/MS‐based NBS. 相似文献
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Gallo P Grimaldi S Latronico MV Bonci D Pagliuca A Gallo P Ausoni S Peschle C Condorelli G 《Gene therapy》2008,15(3):161-170
Human embryonic stem cells (hESCs) may become important for cardiac repair due to their potentially unlimited ability to generate cardiomyocytes (CMCs). Moreover, genetic manipulation of hESC-derived CMCs would be a very promising technique for curing myocardial disorders. At the present time, however, inducing the differentiation of hESCs into CMCs is extremely difficult and, therefore, an easy and standardizable technique is needed to evaluate differentiation strategies. Vectors driving cardiac-specific expression may represent an important tool not only for monitoring new cardiac-differentiation strategies, but also for the manipulation of cardiac differentiation of ESCs. To this aim, we generated cardiac-specific lentiviral vectors (LVVs) in which expression is driven by a short fragment of the cardiac troponin-I proximal promoter (TNNI3) with a human cardiac alpha-actin enhancer, and tested its suitability in inducing tissue-specific gene expression and ability to track the CMC lineage during differentiation of ESCs. We determined that (1) TNNI3-LVVs efficiently drive cardiac-specific gene expression and mark the cardiomyogenic lineage in human and mouse ESC differentiation systems (2) the cardiac alpha-actin enhancer confers a further increase in gene-expression specificity of TNNI3-LVVs in hESCs. Although this technique may not be useful in tracking small numbers of cells, data suggested that TNNI3-based LVVs are a powerful tool for manipulating human ESCs and modifying hESC-derived CMCs. 相似文献
95.
Muscle wasting and paralysis are common complications in Intensive Care Unit (ICU) patients, where critical illness polyneuropathy (CIP) and critical illness myopathy (CIM), alone or in combination (CIP/CIM), are the commonest causes. CIP is an acute axonal sensory-motor polyneuropathy usually suspected in ICU patients who, after a period of days or weeks, cannot be weaned from the ventilator despite the absence of pulmonary or cardiac causes of respiratory failure, or because they suffer from various degrees of limb weakness. CIM is an acute primary myopathy with a continuum of myopathic findings, from myopathies with pure functional impairment and normal histology to myopathies with atrophy and necrosis. The true incidence of CIM is unknown, because neither the diagnosis of CIM nor the differential diagnosis between CIP and CIM in the ICU are easy, and requires specialized neurophysiological methods or biopsy investigations in addition to conventional nerve conduction studies and needle electromyography. When these methods are used, CIM is as frequent as or more frequent than CIP. Failed weaning of patients from the ventilator, inappropriate evaluations of comatose patients and prolonged disability after ICU discharge are common consequences of CIP/CIM. Recent data indicate that CIM has a better prognosis than CIP, and differential diagnosis is therefore important to predict long term outcome in ICU patients. Bioenergetic failure is thought to be a relevant pathophysiological mechanism explaining both CIP/CIM and multi-organ failure. Indeed, CIP/CIM itself should be considered as the failure of the peripheral nervous-muscular system. 相似文献
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Effects of cholinergic modulation on responses of neocortical neurons to fluctuating input 总被引:1,自引:0,他引:1
Neocortical neurons in vivo are spontaneously active and intracellular
recordings have revealed strongly fluctuating membrane potentials arising
from the irregular arrival of excitatory and inhibitory synaptic
potentials. In addition to these rapid fluctuations, more slowly varying
influences from diffuse activation of neuromodulatory systems alter the
excitability of cortical neurons by modulating a variety of potassium
conductances. In particular, acetylcholine, which effects learning and
memory, reduces the slow alterhyperpolarization, which contributes to spike
frequency adaptation. We used whole-cell patch-clamp recordings of
pyramidal neurons in neocortical slices and computational simulations to
show, first, that when fluctuating inputs were added to a constant current
pulse, spike frequency adaptation was reduced as the amplitude of the
fluctuations was increased. High- frequency, high-amplitude fluctuating
inputs that resembled in vivo conditions exhibited only weak spike
frequency adaptation. Second, bath application of carbachol, a cholinergic
agonist, significantly increased the firing rate in response to a
fluctuating input but minimally displaced the spike times by < 3 ms,
comparable to the spike jitter observed when a visual stimulus is repeated
under in vivo conditions. These results suggest that cholinergic modulation
may preserve information encoded in precise spike timing, but not in
interspike intervals, and that cholinergic mechanisms other than those
involving adaptation may contribute significantly to cholinergic modulation
of learning and memory.
相似文献
98.
Abstract Protein-chemical and molecular studies were conducted on all osteogenesis imperfecta (OI) type III/IV patients referred to our hospital during the last 15 y. Of a total of 16 OI type III/IV patients studied, 15 patients were heterozygous for a mutation in one of the two genes coding for collagen I, COL1A1 or COL1A2. Cultured fibroblasts from these 15 patients produced both normal and abnormal collagen I molecules, pointing to a dominant-negative effect of the mutation. Nine mutations had not been described previously. Parental mosaicism was demonstrated in three families. In the 16th child the causative mutation was not found. In conclusion, OI type III/IV in most patients of Western European ancestry is caused by dominant mutations in the genes for collagen I, and recurrence of OI is caused in most cases by parental gonadal mosaicism. 相似文献
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