成人型多囊肾病的基因诊断—APKD基因与α珠蛋白...

Genomic DNA PvuII fragments containing the 3'HVR from 52 unrelated Chinese of Han nationality varied between 1.7 kb and 10.0 kb and showed high polymorphism. The genomic DNA PvuII fragments from five families with adult polycystic kidney disease (APKD) were analyzed using the alpha-globin gene 3' HVR (hypervariable region) as probe. The results showed a close linkage between 3'HVR and the APKD gene and segregation according to Mendelian laws. The maximum Lod score for linkage between 3' HVR and APKD was 3.372 at a recombination fraction theta = 0.01. The alpha-globin gene 3'HVR probe can therefore be used for presymptomatic gene diagnosis and prenatal diagnosis in the Han ethnic group.     

Neuroleptic drugs in the management of behavioral symptoms of Alzheimer's disease.

Physicians have long been wary of chronically administering neuroleptic drugs to the demented elderly for fear of significant side effects. In this article, the authors present evidence to support these fears. A discussion of the early and late emerging side effects of neuroleptic drugs is presented.     

Calcium-activated proteolysis of intracellular domains in the cell adhesion molecules NCAM and N-cadherin.

One of the consequences of increased intracellular calcium in response to a variety of physiological stimuli is the calcium activation of cytosolic proteases. Unlike lysosomal proteases with broad specificity, these calcium-activated neutral proteases show limited proteolysis of a restricted set of substrate proteins suggesting they may play a regulatory role in cellular physiology. In this study we show that the neural cell adhesion molecules NCAM-180 and N-cadherin are substrates for such endogenous calcium-activated neutral proteases. In contrast, a third neural cell adhesion molecule G4/L1 was not susceptible to calcium-activated proteolysis. The threshold for activation of NCAM and N-cadherin proteolysis is in the micromolar range of calcium suggesting that NCAM and N-cadherin are substrates for a mu-type calpain (calpain I). The site recognized by this protease is within intracellular domains of NCAM-180 and N-cadherin which are important for their interaction with cytoskeletal components. These results suggest that calcium-activated proteolysis at these sites in vivo could disrupt the linkage between extracellular ligand binding to these adhesion molecules and the normal intracellular effectors of such extracellular binding events.     

Ganglioside or sialic acid attenuates ethanol-induced decrements in locomotion, nose-poke exploration, and anxiety, but not body temperature.

1. This laboratory has previously reported that pretreatment with ganglioside, or even with its constituent, sialic acid (SA), can attenuate certain intoxicating effects of ethanol. It was important to see if these findings could be replicated, particularly by using other measures of ethanol effects. Herein we report that pretreatment with either gangliosides or SA attenuated ethanol-induced decrements in locomotion, nose-poke exploration, and anxiety, but not body temperature. 2. An ethanol dose of 4 gm/kg caused a temperature drop of about 3 degrees C, which was unaffected by any pretreatment. The onset to sleep, however, was delayed an average of 18 or 36 secs in mice pretreated with ganglioside or SA, respectively. Ethanol-only (4 gm/kg) depressed mean cumulative locomotor activity to 31% of normal, whereas the depression was 83% of normal with beef brain ganglioside pretreatment. At 2 gm/kg ethanol alone decreased nose poking in a hole-board test to 29% of normal, but the depression was only 55-63% of normal with SA or ganglioside pretreatment. In a staircase climbing anxiety test, this dose of ethanol had no effect by itself, but both ganglioside and SA pre-treatment increased climbing by 22%. Ethanol did depress rearing to only 11% of normal, whereas rearing was 51 and 99% of normal with SA and ganglioside pretreatment, respectively. In a dark-preference test, ethanol-only caused mice to spend 64% of the time in the light, compared to 31% for controls. Time in the light was only 39 and 46% with ganglioside and SA pretreatment, respectively. 3. Blood levels of ethanol were not significantly affected by pretreatment. 4. When given alone, gangliosides significantly stimulated locomotion and staircase climbing. SA significantly decreased rearing in the staircase test. Both gangliosides and SA tended to increase nose poking, number of crossings in the dark-preference test, and time in a lighted compartment. Thus, it is possible that some of the attenuation of intoxication is attributable to non-specific stimulant properties of gangliosides and SA.     

Critical illness polyneuromyopathy after artificial respiration.

Up to now, 71 critically ill patients have been reported with neuromuscular complications after artificial respiration. The authors review the literature and present data of a personal series of 22 patients all suffering from severe flaccid tetraparesis and muscle atrophy, which developed after an average of two weeks artificial respiration. The prognosis was relatively good in those surviving the primary disease. The multiconditional causes are discussed with emphasis on the combination of polyneuropathy and myopathy. Tumor necrosis factor (TNF), a key mediator of sepsis, which also has an influence on muscle and nerves, is mentioned as a possible cause of this illness.     

Temporal summation of repetitive click stimuli

Monaural loudness balances were performed by eight normal-hearing subjects to determine the effect of click repetition rate on loudness sensation. Click trains of 500 msec duration were matched in loudness to a standard 500 msec 1000 Hz tone burst presented at three reference loudness levels (70, 80, and 90 phons). Click trains were presented at repetition rates of 11, 31, 51, and 91 clicks per sec. It was found that click trains at faster repetition rates required lower intensities for judgments of equal loudness sensation. This finding was attributed to the process of temporal loudness summation. The magnitude and nature of the temporal summation process as well as the influence of the reference loudness level are discussed.     

Quality of life and mechanical heart valve sound

Most currently used mechanical heart valve prostheses generate a distinct metallic sound at closure. Since this sound is often well audible to many patients it can significantly affect their quality of life after heart valve replacement. In this study of surviving patients after heart valve replacement with three types of Bj?rk-Shiley valves (Shiley Inc., Irvine, Ca) one third of the patients claimed that they were in certain situations disturbed by the sound. Several factors were found to be of importance for the perception of mechanical heart valve noise, including age, sex, location of valve, configuration of the thorax, hearing ability and environmental background noise. Preoperative patient information can be of vital importance to avoid postoperative adverse patient reactions.     

Occupation and bladder cancer in Spain: a multi-centre case-control study

A case-control study on bladder cancer was carried out in four regions of Spain. The study included 497 cases (438 males and 59 females), 583 hospital controls and 530 population controls matched by sex, age and residence. The present paper reports the results of the analyses on occupational history. Among men, an increased risk of bladder cancer was found for textile workers (OR = 1.97, 95% CL 1.2-3.3), mechanics and maintenance workers (OR = 1.86, 95% CL 1.2-2.8), workers in the printing industry (OR = 2.06, 95% CL 1.0-4.3) and for managers (OR = 2.03, 95% CL 1.2-3.5). The risk was highest among those first employed in the textile industry before the age of 25 and prior to 1960. Among mechanics the risk was highest for those who started after the age of 25 and later than 1960. The OR for smokers who had also been employed in one of the high risk occupations was 7.82 (95% CL 4.4-14.0) which is compatible with a multiplicative effect of joint exposure to tobacco and occupational hazards.     

Epidemiology of acute diarrhea in children living in Sicily

A longitudinal survey (February 1984 - January 1985) on the incidence of acute diarrhea episodes in a sample of 8,164 children (aged 0–12 years) living in southeastern Sicily was carried out by means of weekly telephone interviews with doctors practising in the territory. The incidence rate was 0.479 (0.472–0.485 95% C.I.) per child per year and the frequency of episodes was significantly higher (p < 0.001) in children aged 0–4 years (0.86). Diarrhea was more frequent in industrial areas than in rural ones, and almost half (45.1%) of the total episodes had a mild course. No death from diarrhea occurred and admission to hospital was reported for 8.4% of all cases.Corresponding author.