The diagnosis and differential diagnosis of Cushing's syndrome

Cushing's syndrome is defined as the symptoms and signs of glucocorticoid excess, but the precise diagnosis may be difficult to establish and harder to localise. The clinicial, biochemical and imaging features of the syndrome are discussed in the light of our own extensive experience and the published literature. We describe the optimal diagnostic routines currently recommended in major centres, and analyse the sensitivities and specialities of the various tests employed. Only by means of establishing a precise diagnosis can the disorder be successfully treated.     

Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis

The authors describe a dysmature female newborn, with multiple birth defects, who died soon after birth. At first polydactyly and hydrometrocolpos let think of a Kaufman syndrome, with autosomal recessive inheritance. But due to the presence of other malformations and since polydactyly is preaxial, the whole clinical and anatomical picture may be put into the frame of VACTERL association, mainly sporadic. Thus seemingly hydrometrocolpos and urogenital sinus have to be added, although rarely, to the other known defects of the VACTERL association.     

Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias

Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.     

感染性和非感染性发热的临床特征与鉴别

目的分析感染性和非感染性发热的鉴别诊断。方法收集1997年1月。2003年3月收住的以发热为主要临床表现的患者706例,进行回顾性分析。结果感染性疾病550例（81．12％）,其中局灶感染203例（29．94％）,多系统性感染347（51．18％）。非感染性疾病107例（15．78％）。结论感染性和非感染性发热的鉴别诊断在于鉴别诊断思路的完整性,综合衡量是诊断的方法。     

Quantitative proteome analysis using differential stable isotopic labeling and microbore LC-MALDI MS and MS/MS

We demonstrate an approach for global quantitative analysis of protein mixtures using differential stable isotopic labeling of the enzyme-digested peptides combined with microbore liquid chromatography (LC) matrix-assisted laser desorption ionization (MALDI) mass spectrometry (MS). Microbore LC provides higher sample loading, compared to capillary LC, which facilitates the quantification of low abundance proteins in protein mixtures. In this work, microbore LC is combined with MALDI MS via a heated droplet interface. The compatibilities of two global peptide labeling methods (i.e., esterification to carboxylic groups and dimethylation to amine groups of peptides) with this LC-MALDI technique are evaluated. Using a quadrupole-time-of-flight mass spectrometer, MALDI spectra of the peptides in individual sample spots are obtained to determine the abundance ratio among pairs of differential isotopically labeled peptides. MS/MS spectra are subsequently obtained from the peptide pairs showing significant abundance differences to determine the sequences of selected peptides for protein identification. The peptide sequences determined from MS/MS database search are confirmed by using the overlaid fragment ion spectra generated from a pair of differentially labeled peptides. The effectiveness of this microbore LC-MALDI approach is demonstrated in the quantification and identification of peptides from a mixture of standard proteins as well as E. coli whole cell extract of known relative concentrations. It is shown that this approach provides a facile and economical means of comparing relative protein abundances from two proteome samples.     

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias

This paper reports a new, high-performance liquid chromatography/tandem mass spectrometry method for the separation and identification of human plasma short-chain acylcarnitine isomers. This simple, rapid procedure involves the use of a single sample previously shown to contain elevated acylcarnitine concentrations by flow injection analysis, and can separate two C4, three C5, two C5:1 and four C5-OH acylcarnitine isomers, thus permitting the differential diagnosis of certain fatty acid oxidation defects and organic acidemias.     

Mechanisms of retinal damage in chloroquine retinopathy

The paper presents the results of comparative electron microscopic, electrophysiological and biochemical studies of chloroquine effect on lipid peroxidation (LPO) both in vitro and in vivo (rabbits and rats). It has been shown that the progress of chloroquine retinopathy was not accompanied by the increment of the initial LPO level, and the use of ionol antioxidant did not protect the retina from the adverse effect of chloroquine. Besides, chloroquine was shown to suppress LPO in vitro. The results obtained substantiate the idea that LPO is not the primary mechanism in chloroquine retinopathy.     

SPR and differential proteolysis/MS provide further insight into the interaction between PGIP2 and EPGs

By using surface plasmon resonance (SPR) technology, the kinetics of the interaction of various fungal endopolygalacturonases (EPGs) (13 EPGs) with Phaseolus vulgaris (bean) PGIP2 was carried out to determine whether or not there is any interaction between polygalacturonases-inhibiting protein (PGIP) and EPG. The effect of polygalacturonic acid (PGA) on these interactions was also evaluated. The results show that all EPGs evaluated bind to PGIP2, except for AnPGb and the strength of the interaction depends on the EPG/PGIP2 pairing. Further, the presence of PGA has a moderate to strong effect on the EPG/PGIP2 interaction and the strength of the effect is dependent on the exact EPG/PGIP2 pairing. The differences in affinity in the absence and presence of PGA, suggest a certain level of cooperativity. These results indicate a three-component complex similar to that observed for the heparin-ATIII-thrombin, the FGF-FGFR-heparin, or the hedgehog-interference hedgehog-heparan complexes. This data points to an architecture in which the inhibitor binds at a location distant from the substrate binding site. Furthermore, we applied differential proteolysis mass spectrometry (DPMS) to study the location of the binding site between EPG and PGIP2. DPMS studies indicate that PGIP2 does not bind AnPGII, AnPGa, and AnPGc directly over the active site but instead binds on the face opposite to the active site, creating an allosteric interaction.     

Patterns of sperm damage in Chernobyl passerine birds suggest a trade-off between sperm length and integrity

Interspecific variation in sperm size is enigmatic, but generally assumed to reflect species-specific trade-offs in selection pressures. Among passerine birds, sperm length varies sevenfold, and sperm competition risk seems to drive the evolution of longer sperm. However, little is known about factors favouring short sperm or constraining the evolution of longer sperm. Here, we report a comparative analysis of sperm head abnormalities among 11 species of passerine bird in Chernobyl, presumably resulting from chronic irradiation following the 1986 accident. Frequencies of sperm abnormalities varied between 15.7 and 77.3% among species, more than fourfold higher than in uncontaminated areas. Nonetheless, species ranked similarly in sperm abnormalities in unpolluted areas as in Chernobyl, pointing to intrinsic factors underlying variation in sperm damage among species. Scanning electron microscopy of abnormal spermatozoa revealed patterns of acrosome damage consistent with premature acrosome reaction. Sperm length, but not sperm competition risk explained variation in sperm damage among species. This suggests that longer spermatozoa are more susceptible to premature acrosome reaction. Therefore, we hypothesize a trade-off between sperm length and sperm integrity affecting sperm evolution in passerine birds.     

A chick retinal proteome database and differential retinal protein expressions during early ocular development

Proteomics approach as a research tool has gained popularity in a growing number of basic and clinical researches. However, proteomic research has yet to gain significant momentum in eye research. Hence, we decided to build a retinal proteome database using postnatal retinal tissue from chick, a commonly used animal model in eye research. Employing 2-D gels with the coverage of 3-10 pH gradients, we were able to resolve hundreds of proteins from young chick retinae. Among them, 155 high abundant proteins were identified by Peptide Mass Fingerprinting (PMF) after the Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry (MALDI-TOF MS). These proteins were then classified according to their functions. Making use of the retinal database, we were able to identify several differentially expressed proteins that might be involved in early retinal development by comparing the 2-DE maps of chick retinal tissues (3, 10, and 20 days after hatching). With the current proteomics approach, we not only documented the most abundant soluble proteins in the chick retinal tissue, but also demonstrated the dynamic protein expression changes during early ocular development. This represents one of the first steps in building a complete protein database in chick retinae which is applicable to the study of eye diseases from a few selected protein candidates to the whole proteome. Proteomic technology may provide a high throughput platform for advancing eye research in the feasible future.     

经颅超声诊断及鉴别诊断帕金森病

帕金森病(PD)早期临床表现不典型,如能早期诊断、积极治疗,有可能减缓病程进展.因此,早期明确诊断、积极治疗是非常必要的.经颅超声成像(TCS)是一种新的非侵入性超声成像技术,发现PD患者的黑质(SN)区回声增强,认为这些回声增强区的性质与SN区的铁含量增高有关(1).结合近几年国外对TCS检查在PD早期诊断及鉴别诊断中的应用、优点及局限性的研究做一综述.