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1.
Arbour NC; Zlotogora J; Knowlton RG; Merin S; Rosenmann A; Kanis AB; Rokhlina T; Stone EM; Sheffield VC 《Human molecular genetics》1997,6(5):689-694
Achromatopsia is an autosomal recessive disease of the retina,
characterized clinically by an inability to distinguish colors, impaired
visual acuity, nystagmus and photophobia. A genome-wide search for linkage
was performed using an inbred Jewish kindred from Iran. To facilitate the
genome-wide search, we utilized a DNA pooling strategy which takes
advantage of the likelihood that the disease in this inbred kindred is
inherited by all affected individuals from a common founder. Equal molar
amounts of DNA from all affected individuals were pooled and used as the
PCR template for short tandem repeat polymorphic markers (STRPs). Pooled
DNA from unaffected members of the kindred was used as a control. A
reduction in the number of alleles in the affected versus control pool was
observed at several loci. Upon genotyping of individual family members,
significant linkage was established between the disease phenotype and
markers localized on chromosome 2. The highest LOD score observed was 5.4
(theta = 0). When four additional small unrelated families were genotyped,
the combined peak LOD score was 8.2. Analysis of recombinant chromosomes
revealed that the disease gene lies within a 30 cM interval which spans the
centromere. Additional fine-mapping studies identified a region of
homozygosity in all affected individuals, narrowing the region to 14 cM. A
candidate gene for achromatopsia was excluded from this disease interval by
radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an
essential first step in the identification of the disease-causing gene.
相似文献
2.
After bilateral labyrinthectomy the maximum slow phase velocity of flash-induced nystagmus (FIN) was diminished; the flash induced after-nystagmus was always absent. Unilateral labyrinthectomy resulted in a weaker FIN response on stimulation of both eyes, but the best response was seen after contralateral stimulation. These findings are discussed in relation to reported effects of labyrinthectomy on OKN, "central nystagmus" and vestibular nuclear discharge activity. 相似文献
3.
Psychosocial factors and heart rate variability in healthy women 总被引:9,自引:0,他引:9
Horsten M Ericson M Perski A Wamala SP Schenck-Gustafsson K Orth-Gomér K 《Psychosomatic medicine》1999,61(1):49-57
OBJECTIVE: This study was conducted to investigate associations between psychosocial risk factors, including social isolation, anger and depressive symptoms, and heart rate variability in healthy women. METHODS: The study group consisted of 300 healthy women (median age 57.5 years) who were representative of women living in the greater Stockholm area. For the measurement of social isolation, a condensed version of the Interpersonal Support Evaluation List was used and household size assessed. Anger was measured by the anger scales previously used in the Framingham study and depressive symptoms by a questionnaire derived from Pearlin. Health behaviors were measured by means of standard questionnaires. From 24-hour ambulatory electrocardiographic monitoring, both time and frequency domain measures were obtained: SDNN index (mean of the SDs of all normal to normal intervals for all 5-minute segments of the entire recording), VLF power (very low frequency power), LF power (low frequency power), HF power (high frequency power), and the LF/HF ratio (low frequency by high frequency ratio) were computed. RESULTS: Social isolation and inability to relieve anger by talking to others were associated with decreased heart rate variability. Depressive symptoms were related only to the LF/HF ratio. Adjusting for age, menopausal status, exercise and smoking habits, history of hypertension, and BMI did not substantially change the results. CONCLUSIONS: These findings suggest heart rate variability to be a mediating mechanism that could explain at least part of the reported associations between social isolation, suppressed anger, and health outcomes. 相似文献
4.
5.
Marital stress worsens prognosis in women with coronary heart disease: The Stockholm Female Coronary Risk Study 总被引:10,自引:0,他引:10
Orth-Gomér K Wamala SP Horsten M Schenck-Gustafsson K Schneiderman N Mittleman MA 《JAMA》2000,284(23):3008-3014
Context Psychosocial stress has been associated with incidence of coronary heart disease (CHD) in men, but the prognostic impact of such stress rarely has been studied in women. Objective To investigate the prognostic impact of psychosocial work stress and marital stress among women with CHD. Design and Setting Population-based, prospective follow-up study conducted in the city of Stockholm, Sweden. Participants A total of 292 consecutive female patients aged 30 to 65 years (n = 279 working or cohabiting with a male partner) who were hospitalized for acute myocardial infarction or unstable angina pectoris between February 1991 and February 1994. Patients were followed up from the date of clinical examination until August 1997 (median, 4.8 years). Main Outcome Measures Recurrent coronary events, including cardiac death, acute myocardial infarction, and revascularization procedures, by marital stress (assessed using the Stockholm Marital Stress Scale, a structured interview) and by work stress (assessed using the ratio of work demand to work control). Results Among women who were married or cohabiting with a male partner (n = 187), marital stress was associated with a 2.9-fold (95% confidence interval [CI], 1.3-6.5) increased risk of recurrent events after adjustment for age, estrogen status, education level, smoking, diagnosis at index event, diabetes mellitus, systolic blood pressure, smoking, triglyceride level, high-density lipoprotein cholesterol level, and left ventricular dysfunction. Among working women (n = 200), work stress did not significantly predict recurrent coronary events (hazard ratio, 1.6; 95% CI, 0.8-3.3). Conclusions Our results indicate that marital stress but not work stress predicts poor prognosis in women aged 30 to 65 years with CHD. These findings differ from previous findings in men and suggest that specific preventive measures be tailored to the needs of women with CHD. 相似文献
6.
7.
In vivo expression of the B7 costimulatory molecule by subsets of antigen-presenting cells and the malignant cells of Hodgkin's disease 总被引:10,自引:0,他引:10
Munro JM; Freedman AS; Aster JC; Gribben JG; Lee NC; Rhynhart KK; Banchereau J; Nadler LM 《Blood》1994,83(3):793-798
The B-lymphocyte/accessory-cell activation antigen B7 (BB1) has been shown in vitro to stimulate T-lymphocyte proliferation and cytokine production via CD28 present on the latter cells. In this study, benign lymphoid tissues, lymphomas, and extralymphoid inflammatory sites were examined immunohistochemically using anti-B7 and other relevant monoclonal antibodies. B7 was expressed by benign transformed germinal center B cells, as it was by B cells of follicular lymphomas. B7 was also expressed by a subpopulation (a mean of 31% to 65%) of macrophages and dendritic cells in a variety of lymphoid tissues. It was present in abundance on all macrophages constituting sarcoid granulomas in lymph nodes. In extralymphoid inflammation, 17% to 35% of macrophages expressed B7 only weakly. Cases of Hodgkin's disease showed expression of B7 by the majority of Reed-Sternberg cells or malignant mononuclear variants, a phenomenon that potentially contributes to the lymphocytic accumulation that is a feature of this condition. CD28+ T cells were seen in all areas where T cells were present. B7+ and CD28+ cells colocalized in, for example, lymphoid follicles, lymph node paracortex, sarcoid granulomas, and Hodgkin's disease tissue, indicating a potential for cellular interaction via these molecules at these sites. 相似文献
8.
Boudewijn J. J. Smeets David J. Brinkman Eelco C. J. Horsten Jacqueline A. E. Langius Harm J. T. Rutten Wouter J. de Jonge 《Nutrition and cancer》2018,70(3):460-466
Background: Myopenia (low skeletal muscle mass) is associated with an increased risk of complications following colorectal surgery, however, the underlying mechanism is poorly understood. This study investigates the effect of myopenia on the early postoperative systemic inflammatory response. Materials and methods: In 78 patients undergoing colorectal surgery, the presence of myopenia was preoperatively assessed using computed tomography images of the third lumbar vertebra. Interleukin-8 (IL-8) and soluble tumor necrosis factor receptor-1 (TNFRSF1A) were measured in plasma before and 4 h after start of surgery as part of a randomized controlled trial investigating the effect of perioperative gum chewing on the inflammatory response. Multivariable linear regression analysis was performed to assess the effect of myopenia on inflammatory markers while correcting for possible confounders. Results: Four hours after start of surgery, IL-8 was higher in patients with myopenia than in patients without myopenia (352 ± 268 vs. 239 ± 211 pg/ml, P = 0.048), while TNFRSF1A was similar between groups. After adjusting for sex and the intervention with perioperative gum chewing, myopenia remained associated with higher postoperative IL-8 concentrations (P = 0.047). Conclusion: Myopenia may affect IL-8 early after colorectal surgery. However, more studies are needed to validate these findings. 相似文献
9.
10.
NC de Bruin KA van Velthoven M de Ridder T Stijnen RE Juttmann HJ Degenhart HK Visser 《Archives of disease in childhood》1996,74(5):386-399
Data on body composition in conjunction with reference centiles are helpful in identifying the severity of growth and nutritional disorders in infancy and for evaluating the adequacy of treatment given during this important period of rapid growth. Total body fat (TBF) and fat-free mass (FFM) were estimated from total body electrical conductivity (TBEC) measurements in 423 healthy term Caucasian infants, aged 14-379 days. Cross sectional age, weight, and length related centile standards are presented for TBF and FFM. Centiles were calculated using Altman's method, based on polynomial regression and modelling of the residual variation. The TBF percentage steeply increased during the first half year of life, and slowly declined beyond this age. Various simple TBEC derived anthropometric prediction equations for TBF and FFM are available to be used in conjunction with these standards. Regression equations for the P50 and the residual SD, depending on age, weight, or length, are provided for constructing centile charts and calculating standard deviation scores. 相似文献