Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene

Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB) gene, carried out by single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23-c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis.     

SOURCE ROCKS AND THE ORIGIN OF NATURAL GAS IN THE FAR EAST

Most source rocks of the Far East (Figs. 2 and 6) have a strong humic component, and, therefore, a large gas-generating capacity. This is an obvious reason why the Far East as an entity is largely a gas province. In particular, the following statements can be made :
(i) Mixed or humic type source rocks in combination with temperature gradients exceeding 3.5°C and minimal burial depths of 3,000m generate predominantly gas (e. g. Gippsland basin, SE Australia; Kapuni gas field, New Zealand) .
(ii) Mixed or humic type source rocks in combination with average or slightly below average temperature gradients and burial depths exceeding 3,200-4,000m generate predominantly gas and condensate (e. g. Dampier sub-basin, Western Australia; Arun gas field, North Sumatra) .
(iii) Mixed and/or humic type source rocks generate gas in the vicinity of magmatic intrusive or extrusive bodies provided magmatic activity post-dates source rock deposition .
(iv) Most source rocks of the Far East are Paleocene to Miocene age, and source rock maturity and post-maturity was in many cases reached in Neogene to Recent times .
(v) Mesozoic source rocks of partly humic or mixed type are known from Afghanistan and Australia, Paleozoic source rocks from Australia .
(vi) Retention of the gas phase may have been inadequate in areas of strong Neogene folding (e. g. Sumatra, East Kalimantan and Burma Tertiary basins) .
(vii) At the present state of knowledge the question as to which part of natural gas is thermally degraded oil and which part stems from a gas source rock, cannot be satisfactorily solved .     

利用MAXQ2000微控制器实现快速傅里叶变换

许多最新的16位微控制器包含硬件乘法功能,能够实现对时间要求较为苛刻的信号处理算法,省去了数字信号处理器(DSP).MAXQ2000微控制器内置单周期硬件乘法器,能够实现快速傅里叶变换,这种信号处理算法在消费类电子、工业、医疗系统中应用非常普遍.本文介绍了离散傅里叶变换(DFT),并讨论了实际应用中的一些问题.     

Engineered Platelet-Derived Growth Factor-Releasing Hydrogels Promote Fetal Membrane Healing In Vivo

Fetoscopic interventions to treat fetal anomalies are currently performed for a variety of conditions. Depending on the procedure, preterm rupture of the fetal membranes (FMs) happens in around 30% of the cases, potentially leading to preterm birth and fetal morbidity and mortality. Here, the capacity of modular transglutaminase crosslinked poly(ethylene glycol) (TG-PEG) hydrogels that release platelet-derived growth factor (PDGF)-BB to promote FM healing is described. In vitro, such growth factor-loaded hydrogels are able to stimulate amniotic cell migration and proliferation. When applied in vivo, these TG-PEG hydrogels tightly seal the FM and uterus defects created by a fetoscope and remain stable for 10 days. The migration of healing-related cells into such hydrogels in the myometrium, endometrium, and FM areas is only possible in soft TG-PEG hydrogels. Importantly, bioengineered hydrogels releasing PDGF-BB promote recruitment of host cells from the myometrium and the endometrium, and to a lesser extent from FM areas. In such hydrogels, the potent proliferation and matrix production of the recruited cells at the site of treatment into the biomaterial initiates a robust early healing response. PDGF-BB-loaded TG-PEG hydrogels hold great promise for the treatment of fetoscopy-induced FM defects and for the prevention of preterm birth.     

Linking information reconciliation and privacy amplification

Information reconciliation allows two parties knowing correlated random variables, such as a noisy version of the partner's random bit string, to agree on a shared string. Privacy amplification allows two parties sharing a partially secret string about which an opponent has some partial information, to distill a shorter but almost completely secret key by communicating only over an insecure channel, as long as an upper bound on the opponent’s knowledge about the string is known. The relation between these two techniques has not been well understood. In particular, it is important to understand the effect of side-information, obtained by the opponent through an initial reconciliation step, on the size of the secret key that can be distilled safely by subsequent privacy amplification. The purpose of this paper is to provide the missing link between these techniques by presenting bounds on the reduction of the Rényi entropy of a random variable induced by side-information. We show that, except with negligible probability, each bit of side-information reduces the size of the key that can be safely distilled by at most two bits. Moreover, in the important special case of side-information and raw key data generated by many independent repetitions of a random experiment, each bit of side-information reduces the size of the secret key by only about one bit. The results have applications in unconditionally secure key agreement protocols and in quantum cryptography. This research was supported by the Swiss National Science Foundation. A preliminary version of this paper was presented at Eurocrypt '94, May 9–12, Perugia, Italy.