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Gitelman's syndrome is an autosomal recessive disorder characterized by electrolyte disturbances and low blood pressure. The disease is caused by homozygous or compound heterozygous inactivating mutations in the thiazide-sensitive NaCl-cotransporter gene leading to reduced renal sodium reabsorption. We report 4 patients with Gitelman's syndrome from southern Sweden, all in whom we identified compo
The ERBB2 proto-oncogene was studied in 539 invasive primary breast tumors and was found amplified (2- greater than 30 copies) in 19%. Amplification was correlated to most known risk factors, including; large tumor size, lymph node positivity and many tumor involved nodes, advanced stage, low patient age (less than 40 years), non-diploidy and hypertetraploidy, and most significantly (P less than 0
Little is known about how older people with cancer experience their life situation. To increase the understanding of how illness is experienced in older people with cancer, the aim of this study was to investigate the meaning of living with cancer in old age. The hermeneutic phenomenological method as described by van Manen and referred to as 'phenomenology of praxis' was used. Ten persons (seven
Two transcription associated estrogen receptor (ER) subtypes have been identified and named ERα and ERβ. In the present study we investigate the expression of these ER subtypes in cultured human periodontal ligament (PDL) cells by immunocytochemistry. ERβ immunoreactivity was observed in the nuclei of about 40% of the PDL cells, while no ERα immunoreactivity was detected. In human breast cancer MC
Genomics — the sequencing of the human genome and the identification of the genetic mechanisms of development and disease — is driving a restructuring of the global pharmaceutical industry. Many policy initiatives in biomedicine are based on the assumption that strength in genomics research will be translated into economic success, that is, that investments in genomics will be a way to catch up in
This study describes the effects of acute ethanol exposure on the mRNA levels of c-jun,junB and junD in the human neuroblastoma SH-SY5Y cell line. An acute exposure to 100 mM ethanol did not influence the basal and phorbol ester-induced expression of c-jun and junB, whereas the basal mRNA level of junD was attenuated by 30%. This effect was dose- and time-dependent with maximal inhibition being de
The variation of hole population in the resonant states of B-doped Si excited by sequences of short electric-field pulses has been investigated by the technique of time-resolved step-scan far-infrared spectroscopy. From the variation of the p(3/2) absorptions, we find that the hole population in the ground state decreases continuously with the sequential electric pulses, as a result of the breakdo
Eosinophils may be found at sites of inflammation, for example in asthma, allergy and helminthic infestation, but their role in human inflammatory disease is unclear. In the present study, we investigated the presence of alpha-1-antitrypsin (AAT), a serine proteinase inhibitor, in human eosinophils. When lysates of highly purified eosinophils were subjected to Western blotting, with a chemilumines
BACKGROUND. Prostate-specific antigen (PSA/KLK3) and human kallikrein 2 (hK2/KLK2) belong to the human kallikrein gene family. These two highly homologous genes are specifically expressed in the prostate under androgen control. Expression of these is regulated by similar mechanisms but changes in their relative expression have been observed in prostate cancer. METHODS. We determined the relative l
To elucidate the possible role of selenoproteins for milk formation and mammary gland physiology, the activities of selenoprotein enzymes and the expression of selenoprotein genes were studied in the bovine mammary gland. Messenger RNA was demonstrated for selenoprotein P, thioredoxin reductase 1, and for glutathione peroxidase (GPx) 1, 3, and 4. Significant differences in mRNA expression between
The elicitation of a positive patch test reaction in a given individual depends upon the dose of the sensitizer applied, the patch test technique and the occlusion time. The dose is determined by the concentration and volume/amount of test preparation applied. If the same amount/volume of a test preparation is applied all the time with the same test technique (same area of skin) and occlusion time
Tourism is largely dependent on climatic and natural resources. For example, "warmer'' climates generally constitute preferred environments for recreation and leisure, and natural resources such as fresh water, biodiversity, beaches or landscapes are essential preconditions for tourism. Global environmental change threatens these foundations of tourism through climate change, modifications of glob
Jawless fishes (Agnatha; lampreys and hagfishes) most closely resemble the earliest stage in vertebrate evolution and lamprey-like animals already existed in the Lower Cambrian [about 540 million years ago (MYA)]. Agnathans are thought to have separated from the main vertebrate lineage at least 500 MYA. Hagfishes have primitive eyes, but the eyes of adult lampreys are well-developed. The southern
The runoff from and the water balance of a thin extensive green roof with sedum-moss have been studied. The soil cover is about 3 cm underlain by a thin drainage layer. The water balance is determined on a monthly basis. The runoff from the green roof is much reduced compared to runoff from hard roofs because of evapotranspiration. The annual runoff is rather close to that of natural river basins.
A survey of the use of Os-187 satellite subspectra in H-1 and P-31{H-1} spectra of triosmium carbonyl clusters is reported. By varying evolution delays in HMQC spectra of [Os-3(mu-H)(2)(CO)(10)] we have selectively extracted the values for (1)J(Os,H) and (2)J(Os,H), respectively. An analysis of the principal modes of phosphine coordination in triosmium clusters demonstrates that P-31{H-1} Os-187 s
Data from the Swedish Knee Arthroplasty Registry were analyzed to compare bi- and tricompartmental knee arthroplasties carried out in patients operated on for arthrosis in 1990-1996. Of the 16,607 primary arthroplasties that were carried out there were 5,139 with patellar replacement in the primary procedure and 10,928 without. By April 1998, 280 revisions were performed, 250 of these cases were a
Tenosynovial giant cell tumors (TGCTs) are benign lesions of the tendon sheaths that primarily affect the fingers, ankles, or feet. Cytogenetic data have shown that 1p13 is most frequently involved in structural aberrations and that 2q37 is its most common translocation partner. The genes involved in the translocation t(1;2)(p13;q37) were recently identified: the colony-stimulating factor-1 (CSF1
In this work, we featured an expression system that enables the production of sufficient quantities (~mg) of low molecular weight membrane protein of photosystem II, PsbH protein, for solid-state NMR as well as other biophysical studies. PsbH gene from cyanobacterium Synechocystis sp. PCC 6803 was cloned into a plasmid expression vector, which allowed expression of the PsbH protein as a glutathion
