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131.
M Telenius-Berg L Adolfsson B Berg B Hamberger I Nordenfelt S Tibblin G Welander 《Acta medica Scandinavica》1987,222(4):351-359
A simple and practical provocative test is needed for early asymptomatic pheochromocytoma, which is a major risk for patients with multiple endocrine neoplasia type 2 (MEN-2). We measured plasma catecholamines before and after submaximal exercise in 26 MEN-2 gene carriers, eight of whom with asymptomatic pheochromocytoma, nine with medullary thyroid carcinoma and 10 after uni- or bilateral adrenalectomy. Seventeen clinically healthy individuals and 11 patients with neurovegetative lability and symptoms mimicking pheochromocytoma served as controls. Plasma adrenaline, noradrenaline and dopamine increased after exercise except for adrenaline after bilateral adrenalectomy. The post-exercise levels of adrenaline and the adrenaline/dopamine ratio were significantly higher in the pheochromocytoma patients compared to the healthy controls and the patients with neurovegetative lability, while the patients with medullary thyroid carcinoma represented an intermediate group with a high probability of developing adrenal tumors. The present method is a physiological test with a high sensitivity and specificity. It is practical and well suited for repeated examinations and seems to be of value for the detection of early pheochromocytoma in MEN-2 patients. Furthermore, the test could be used in the differential diagnosis between pheochromocytoma and neurovegetative lability. 相似文献
132.
Hao Wang Ingeborg Barisic Maria Loane Marie‐Claude Addor Linda M. Bailey Miriam Gatt Kari Klungsoyr Olatz Mokoroa Vera Nelen Amanda J. Neville Mary O'Mahony Anna Pierini Anke Rissmann Christine Verellen‐Dumoulin Hermien E.K. de Walle Awi Wiesel Katarzyna Wisniewska Lolkje T.W. de Jong‐van den Berg Helen Dolk Babak Khoshnood Ester Garne 《American journal of medical genetics. Part A》2019,179(4):595-601
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT. 相似文献
133.
Olaug K. Rødningen Oddveig Røshy Serena Tonstad Leiv Ose Kåre Berg Trond P. Leren 《Clinical genetics》1992,42(6):288-295
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries. 相似文献
134.
The response of human granulocytes to polystyrene latex beads of diameter 0.1–7 m was measured by luminol-dependent chemiluminescence. In all instances, the response to beads of 3–7 m was definitely higher than with smaller beads. In protein-free medium, the chemiluminescence response was slow compared to that of opsonized zymosan, and the highest response was only 9% of the response to opsonized zymosan. Scanning electron microscopy showed that granulocytes in suspension bound the particles, occasionally by extending rope-like protrusions. When the beads were coated with albumin, the chemiluminescence diminished to about 1/3 of that seen with uncoated beads; however, preincubating the beads in serum led to a large increase with beads of 1.1 m (to 25% of the maximal response to opsonized zymosan) and 3.19 m (to 42%), but with the smallest beads, no increase was noted. "Priming" of the cells with tumor necrosis factor- caused a further increase with serum-coated beads. When uncoated beads of 1.1 m were tested with "primed" cells, there was an increase of 6 times in the chemiluminescence compared to un-"primed" cells. 相似文献
135.
Atopic dermatitis in 5-6-year-old Swedish children: cumulative incidence, point prevalence, and severity scoring 总被引:1,自引:0,他引:1
Background: This study aimed to evaluate the cumulative incidence, point prevalence, and severity of atopic dermatitis (AD) in a pediatric population. We also aimed to identify differential diagnoses relevant to AD in this population. Methods: Children scheduled for a health visit at 5.5 years of age were selected consecutively during the period October 1997–March 1998 from two cities in southern Sweden (Göteborg and Kristianstad). Schultz Larsen's questionnaire was used to evaluate the cumulative incidence of AD. Clinical examination was performed by dermatologists (A.B. and Å.S.) for those children with active eczema. The UK working party's criteria were used for the clinical diagnosis of AD. The SCORAD index was used to evaluate the severity of eczema. This index includes evaluation of extent, intensity, and subjective symptoms to a maximum score of 103 points. Results: In Göteborg 1219 and in Kristianstad 742 questionnaires were answered regarding 1961 children, 1004 boys and 957 girls. The response rate was 89%. According to the answers to Schultz Larsen's questionnaire, the cumulative incidence of AD in the whole material was 20.7% (406/1961) (CI 95% 18.9–22.5). In Göteborg, 104 of the examined children fulfilled the UK working party's criteria, equivalent to a point prevalence of 8.5% (CI 95% 7.0–10.1). In Kristianstad, the corresponding point prevalence was 11.5% (CI 95% 9.2–13.8). The severity of AD was evaluated in all children with visible eczema. SCORAD evaluation was performed in 155 of the 157 children with visible eczema. The majority of children had mild or moderate eczema; mean value 20.5 (CI 95% 18.7–22.3), median 19.6. Of the 96 children who did not fulfil the criteria of AD, other skin disorders were diagnosed in 51 at the clinical examination. Dry skin was by far the most common differential diagnosis. Conclusions: We have used validated protocols to evaluate the cumulative incidence, point prevalence, and severity of AD in a population‐based study in southern Sweden The present study, involving a rural and urban pediatric population, shows that AD is common, usually classified as mild or moderate, and seems to increase over time. 相似文献
136.
Hepatic uptake of circulating IgG immune complexes. 总被引:3,自引:0,他引:3
IgG antibodies were found to increase the uptake of circulating dinintrophenylated human serum albumin (DNP-HSA) preparations by the nonparenchymal liver cells in rats. Highly DNP-conjugated HSA was taken up by the Kupffer cells both when given alone and when complexed by IgG. More lightly DNP-conjugated HSA was taken up mainly by the liver endothelial cells. Here, IgG promoted the antigen uptake both by the Kupffer cells and by the endothelial cells. Uptake of IgG immune complexes (IgG-ICs) by the sinusoidal endothelial cells of the liver is a new aspect on the function of these cells. Whether or not this phenomenon is Fc receptor-mediated is discussed. A heat-labile serum factor was found to direct the ICs to the Kupffer cells. This implies that serum complement and hepatic C3 receptors are essential for the physiological clearance of circulating immune complexes. 相似文献
137.
Spontaneous secretion of interleukin-4, interleukin-10 and interferon-gamma by first trimester decidual mononuclear cells 总被引:4,自引:0,他引:4
Ekerfelt C Lidström C Matthiesen L Berg G Sharma S Ernerudh J 《American journal of reproductive immunology (New York, N.Y. : 1989)》2002,47(3):159-166
PROBLEM: A T-helper cell type 2 (Th2) cytokine dominated microenvironment has been predicted to be crucial for successful pregnancy. However, little information is available about local cytokine secretion in the human decidua. We determined the spontaneous secretion of interleukin-4 (IL-4), interferon-gamma (IFN-gamma) and IL-10 by decidual mononuclear cells at the single cell level and compared it with their secretion by peripheral blood mononuclear cells (PBMC) in the first trimester of pregnancy. METHODS OF STUDY: The cytokine secretion from decidual and blood cells was detected by a sensitive enzyme-linked immunosorbent spot-forming cell (ELISPOT)-assay. RESULTS: Cells secreting IL-4 (median 153, range 8-530), IL-10 (median 188, range 32-1600) and IFN-gamma (median 123, range 15-1140) were detected in all decidual and blood samples. The cytokine secretion showed a co-linear pattern in both the blood and decidua, i.e. when one cytokine was secreted at high levels, the others followed the trend. No correlation was found between the number of cytokine secreting cells in blood and decidua for any of the cytokines. CONCLUSIONS: Interleukin-4 and IL-10 are locally secreted in the decidua early during normal pregnancy, probably counteracting the fetal rejecting effects of co-expressed IFN-gamma. The cytokine secretion by blood cells does not generally reflect the local secretion pattern during first trimester pregnancy. 相似文献
138.
Cefoxitin as a single-dose treatment for urethritis caused by penicillinase-producing Neisseria gonorrhoeae. 总被引:10,自引:0,他引:10
S W Berg M E Kilpatrick W O Harrison J A McCutchan 《The New England journal of medicine》1979,301(10):509-511
Gonococci that resist standard penicillin regimens by production of a penicillinase are now well established in certain areas of the world. Because cefoxitin, a semisynthetic cephamycin, resists gonococcal penicillinase in vitro, we compared procaine penicillin G and cefoxitin in treatment of gonorrhea in an area where 40 per cent of isolates produce penicillinase. One hundred and seven men with culture-proved gonococcal urethritis were given a single dose of either procaine penicillin G, 4.8 million U, or cefoxitin, 2 g, intramuscularly. Both groups took 1 g of probenecid orally; cefoxitin was given with lidocaine to reduce pain at the injection site. In men infected with penicillinase-negative gonococci, both cefoxitin and penicillin were highly effective. Penicillin failed in 77 per cent of men with penicillinase-positive strains, whereas cefoxitin was completely successful. Cefoxitin is an effective alternative to spectinomycin for single-session therapy of urethritis caused by penicillinase-producing Neisseria gonorrhoeae. 相似文献
139.
140.
H. Albrecht H. -J. Stellbrink G. Gross B. Berg U. Helmchen H. Mensing 《Journal of molecular medicine (Berlin, Germany)》1994,72(12):1041-1047
Visceral leishmaniasis (kala-azar) affecting HIV-infected patient is being reported in increasing frequency. A 40-year-old German bisexual patient with full-blown AIDS is described who presented with Kaposi's sarcoma, epigastric pain, diarrhea, and weight loss but without fever.Leishmania amastigotes were initially found in biopsies from stomach, duodenum, and a cutaneous Kaposi's sarcoma lesion but were later also recovered from bone marrow and lymph node. The patient received three courses of a combination of pentavalent antimony and interferon-. In addition to the common side effects such as fever, thrombocytopenia, and elevated amylase and lipase, a vivid progression of the Kaposi's sarcoma was noted. Tumor progression was temporally closely associated with treatment with interferon-. Because this phenomemon has also been observed in other patients, we advise caution when using interferon- in patients with Kaposi's sarcoma.Abbreviations AIDS
acquired immunodeficiency syndrome
- HIV
human immunodeficiency virus
- KS
Kaposi's sarcoma
Correspondence to: H. Albrecht 相似文献