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Biomedical subjects

Nils Milman

Publications and source records attributed to Nils Milman.

At least 37 records · Page 2Linked to original sources
PubMed2006

HLA-G polymorphisms and HLA-G expression in sarcoidosis.

BACKGROUND: The MHC class Ib molecule Human Leukocyte Antigen (HLA)-G may be important in induction and maintenance of immunological tolerance, and HLA-G expression may have a role in different cancers, in certain diseases with associations to HLA, and in organ transplantation. Sarcoidosis is a systemic granulomatous disease with unknown etiology but at the molecular level several studies have shown HLA associations. METHODS: In the present study, HLA-G alleles/polymorphisms were studied in sarcoidosis patients (n = 47) and controls (n = 129) by PCR techniques and HLA-G protein expression was investigated in granulomas from sarcoidosis patients with the use of immunohistochemistry. RESULTS: The HLA-G*010102/-G*0106 alleles were observed more often in sarcoidosis patients (39.4%) than in controls (26.4%), p = 0.025 (Fisher's exact test); however, not significant after correction (p(c) = 0.15). When HLA-G expression was investigated by immunohistochemistry in granulomas from sarcoidosis patients, weak HLA-G expression was observed in only one patient. CONCLUSIONS: HLA-G alleles that include a 14-bp sequence polymorphism in exon 8 of the HLA-G gene are observed more often in sarcoidosis patients than in controls. The sequence variation may influence HLA-G mRNA stability and influence the expression of soluble isoforms of HLA-G. Only rare and weak expression of HLA-G was observed in granulomas from sarcoidosis patients. More studies are needed to further elucidate the possible role for HLA-G in sarcoidosis.

Adult↗
PubMed2005

The Copenhagen National Lung Transplant Group: survival after single lung, double lung, and heart-lung transplantation.

OBJECTIVE: To review the 13-year clinical experience of a single center's adult lung transplantation program. METHODS: From January 1992 to December 2003, 369 lung transplantations were performed on 362 patients. Single lung transplantation was performed in 234 cases, double lung transplantation in 113 cases (comprising en-bloc double lung transplantation in 44 cases and bilateral sequential lung transplantation in 69 cases), heart-lung transplantation in 21 cases, and lobe of lung transplantation in 1 case. Recipient diagnoses included chronic obstructive pulmonary disease (COPD) (n = 175), alpha1 antitrypsin (alpha1AT) deficiency (n = 86), cystic fibrosis (n = 36), pulmonary fibrosis (n = 20), Eisenmenger syndrome and secondary pulmonary hypertension (n = 24), primary pulmonary hypertension (n = 8), sarcoidosis (n = 7), silicosis (n = 4), bronchiectasis (n = 1), and graft-vs-host disease (n = 1). RESULTS: For patients surviving to discharge, the median duration of the intensive care unit stay was 3 days (1-67), and the median duration of the post-operative hospital stay was 37 days (16-144). Mortality for the entire series was 6% at 30 days and 10% at 90 days. The main causes of post-operative inpatient death were primary graft failure (41%), sepsis (29%), cardiac (15%), and hemorrhage (9%). The 1-, 3-, 5-, and 10-year actuarial survival rates for the entire series was 81%, 68%, 63%, and 36%, respectively. There were no significant differences in survival between types of transplant. No significant differences in survival were seen between alpha(1)AT deficiency and COPD patients after stratifying for age. Cox regression analysis demonstrated that age 60 years or older, donor age 50 years or older, and a recipient pre-operative body mass index of 25 or higher were independent predictors of poor survival. CONCLUSIONS: This center has 1-, 3-, and 5-year survival rates comparable to other high volume centers. Recipient age, pre-operative body mass index, and donor age significantly influence outcome after lung transplantation.

Adult↗
PubMed2005

[The scientific basis of current official dietary recommendations in relation to pregnancy].

The Danish Nutrition Council has examined the latest scientific literature on nutrition during pregnancy to evaluate the basis for the existing official recommendations. The recommendation to overweight women to gain only eight kilo should be accompanied with a recommendation to lose weight pre-conceptionally. Individualised recommendations should be provided in the prevention of iron deficiency, and the recommendation for calcium should include information on quantity. The recommendation of periconceptional folic acid supplementation does not benefit unplanned pregnancies. Arguments exist for adding a recommendation for vitamin D.

Denmark↗
PubMed2005

Pulmonary sarcoidosis in a child with cystic fibrosis.

The co-occurrence of cystic fibrosis (CF) and sarcoidosis is rare. This case report describes a patient with both diseases. A 13-year-old girl with known CF (homozygous delta F508 defect) presented with a sudden decline in lung function. FEV1 decreased from 80% to 64% predicted, and FVC from 90% to 80% predicted. Diffusion capacity for carbon monoxide (D(L)CO) was 92% predicted. There was no history of cough, dyspnea, or reduced exercise tolerance, but she had arthralgia of the knee- and ankle-joints. A chest radiograph and CT scan of the thorax demonstrated pronounced bilateral hilar and mediastinal lymphadenopathy, compatible with pulmonary sarcoidosis. Histological examination of lymph node biopsy specimens obtained at mediastinoscopy demonstrated noncaseating epithelioid-cell granuloma. The majority of lymphocytes were CD4+ T lymphocytes, with a CD4+/CD8+ ratio of 5:1. The patient showed a prompt response to treatment with oral corticosteroids, and lung function returned to baseline levels. Subsequent radiographic appearances showed almost complete regression of mediastinal lymphadenopathy. The probability that CF and sarcoidosis would coexist by chance in a Danish child of this age is approximately 1:10(9). The collective incidence and geographic distribution of previously described patients with coexistent CF and sarcoidosis lend support to an association between the two diseases.

Adolescent↗
PubMed2005

Iron prophylaxis during pregnancy -- how much iron is needed? A randomized dose- response study of 20-80 mg ferrous iron daily in pregnant women.

OBJECTIVE: To determine the lowest dose of iron preventative of iron deficiency and iron deficiency anemia in pregnancy. METHODS: A randomized, double-blind intention-to-treat study comprising 427 healthy pregnant women allocated into four groups taking ferrous iron (as fumarate) in doses of 20 mg (n = 105), 40 mg (n = 108), 60 mg (n = 106), and 80 mg (n = 108) from 18 weeks of gestation. Iron status markers [hemoglobin (Hb), serum ferritin, and serum soluble transferrin receptor (sTfR)] were measured at 18 weeks (inclusion), 32 weeks, and 39 weeks of gestation and 8 weeks postpartum. Side effects of iron supplements were recorded. Iron deficiency was defined as serum ferritin <13 microg/l and iron deficiency anemia as serum ferritin <13 microg/l and Hb <5th percentile in iron replete pregnant women. RESULTS: There were no significant differences between variables in the four groups at inclusion. At 32 and 39 weeks of gestation, group 20 mg had significantly lower median serum ferritin (13 and 16 microg/l) than group 40 mg (17 and 21 microg/l), group 60 mg (18 and 23 microg/l), and group 80 mg (21 and 24 microg/l) (p < 0.0001). At 32 and 39 weeks of gestation, group 20 mg had a significantly higher prevalence of iron deficiency (50 and 29%) than group 40 mg (26 and 11%), group 60 mg (17 and 10%), and group 80 mg (13 and 9%) (p < 0.001). The prevalence of iron deficiency anemia at 39 weeks of gestation was significantly higher in group 20 mg (10%) than in group 40 mg (4.5%), group 60 mg (0%), and group 80 mg (1.5%) (p = 0.02). At 32 weeks of gestation, mean Hb in group 20 mg was lower than in group 80 mg (p = 0.06). There were no significant differences in iron status (ferritin, sTfR, and Hb) between group 40, 60, and 80 mg. Postpartum, group 20 mg had significantly lower median serum ferritin than group 40, 60, and 80 mg (p < 0.01). The prevalence of postpartum iron deficiency anemia was low and similar in the four groups. The frequency of gastrointestinal symptoms was not significantly different in the four iron supplement groups and thus not related to the iron dose. CONCLUSION: In Danish women, a supplement of 40 mg ferrous iron/day from 18 weeks of gestation appears adequate to prevent iron deficiency in 90% of the women and iron deficiency anemia in at least 95% of the women during pregnancy and postpartum.

Adult↗
PubMed2005

Lead content in autopsy liver tissue in samples from Greenlandic Inuit and Danes.

OBJECTIVES: To measure the quantity of lead (Pb) in liver tissue samples from Greenlandic Inuit, and compare the results with those obtained in Caucasian Danes. STUDY DESIGN: Observational, descriptive survey on environmental pathology. METHODS: The setting was related to forensic medicine and hospitalised care in Nuuk, Ilulissat and Copenhagen. Participants were 50 Greenlandic Inuit (27 men) with a median age of 61 years (range 23-83) and 74 Danes (44 men) with a median age of 60 years (range 15-87). Liver tissue samples (normal by macroscopic and microscopic examination) were obtained at autopsy. Total liver lead content was measured by X-ray fluorescence spectrometry with a detection limit of 0.05 micromol/kg dry weight. RESULTS: In the entire series, Inuit had higher liver lead contents than Danes (p < 0.0001). Inuit men had higher liver lead content than Inuit women (p = 0.02). In Danes, men tended to have higher liver lead contents than women, but the difference was insignificant. The median (5-95 percentile) lead content was 14.96 micromol/kg dry liver (4.83-74.80) in Inuit, and < 0.05 micromol/kg dry liver (< 0.05-29.44) in Danes. All Inuit had liver lead contents above the detection limit, whereas 60 Danes (81%) had liver lead content below the detection limit. There was a positive correlation between liver lead content and age in both Inuit (rs = 0.46, p = 0.002) and Danes (n = 14; rs = 0.71, p = 0.01). Inuit had higher hepatic lead indices (liver lead content divided by age) than Danes (p < 0.0001). In Inuit, median hepatic lead index was 0.258, being higher in men than in women (p = 0.02). In Danes, the median hepatic lead index was 0.001, again higher in men than in women (p = 0.03). CONCLUSIONS: Our results show a gender-related difference in hepatic lead content, i.e. Inuit men have higher liver lead contents than women. Furthermore, Inuit men and women have higher hepatic lead contents than Danish men and women. In both Inuit and Danes, the liver lead content increases with age. One reason for the high lead levels in Inuit may be ingestion of seabirds contaminated by lead shot.

Adolescent↗
PubMed2005

Lung transplantation for end-stage pulmonary sarcoidosis: outcome in a series of seven consecutive patients.

BACKGROUND: From 1992 through October 2004, in total 379 lung transplantations (LTx) have been performed at this center. The aim was to describe the course of LTx in 7 consecutive patients with end-stage pulmonary sarcoidosis. METHODS: There were 5 men and 2 women. Figures are median (range). Pretransplantation data: Age at debut of sarcoidosis: 32 y (17-44). Duration of sarcoidosis until LTx: 13 y (10-30). None had significant extrapulmonary sarcoidosis. Chest X-ray showed stage III-IV sarcoidosis. All patients were NYHA class III-IV. Pulmonary function in per cent of predicted: FEV1 20% (15-75), FVC 43% (27-75), DLCO 26% (17-60). RESULTS: All patients had single lung transplantation (SLTx) at a median age of 51 y (45-55). The perioperative course was uncomplicated. Follow-up was 30 months (11-135). A 47-year-old woman died 22 months post-LTx due to bronchiolitis obliterans syndrome (BOS) with graft failure. Maximum pulmonary function tests at 2-6 months post-LTx: FEV1 57% (52-91), FVC 69% (63-110). Acute rejection episodes (A2-A3) were median 3 (0-4). BOS at follow-up: 1 patient has BOS grade 0-p, 1 patient grade 1, 2 patients had grade 2, and 2 patients had grade 3. Recurrence of sarcoidosis in the transplanted lung occurred in 3 patients 1-6 months after SLTx, without deterioration in lung function. CONCLUSIONS: Lung transplantation in patients with end-stage pulmonary sarcoidosis does not differ significantly with respect to morbidity or mortality compared with patients having other lung diseases. Recurrence of sarcoidosis in the transplanted lung occurs in approximately 50% of the patients, but apparently has no significant impact on lung function or on short-term outcome.

Drug Therapy, Combination↗
PubMed2004

Increased serum YKL-40 in patients with pulmonary sarcoidosis--a potential marker of disease activity?

BACKGROUND: YKL-40, a growth factor for fibroblasts and vascular endothelial cells, is secreted by macrophages and neutrophils. Elevated serum YKL-40 is found in patients with diseases characterized by inflammation, tissue remodelling and ongoing fibrosis. The aim was to evaluate whether macrophages and giant cells in the granulomatous sarcoid lesions of patients with pulmonary sarcoidosis produce YKL-40 and to determine whether serum YKL-40 in these patients were associated with disease activity. METHODS: Serum YKL-40 was determined by radioimmunoassay in 27 patients with a histological diagnosis of pulmonal sarcoidosis. Immunohistochemical staining for YKL-40 antigen was performed in five biopsies with pulmonary sarcoid lesions. Serum YKL-40 was likewise measured in 173 healthy age-matched control subjects. RESULTS: Mononuclear cells/macrophages and giant cells in pulmonary sarcoid granulomas expressed YKL-40 protein. Serum YKL-40 was higher in patients with pulmonary sarcoidosis compared to controls (P<0.001) and 63% had elevated serum YKL-40. There was a positive correlation between serum YKL-40 and serum angiotensin converting enzyme (rho=0.55, P=0.0053). Patients with serum YKL-40>median value in the patient group had lower carbon monoxide diffusion capacity corrected for alveolar volume (DLCO/VA) than patients with serum YKL-40 the median value (P=0.015). CONCLUSIONS: Serum YKL-40 may be a novel biomarker of sarcoid disease activity and ongoing fibrosis in patients with pulmonary sarcoidosis.

Adipokines↗
PubMed2004

A decrease in iron status in young healthy women after long-term daily consumption of the recommended intake of fibre-rich wheat bread.

BACKGROUND: Fibrerich bread and cereals are included in the recommendations of a healthy diet. OBJECTIVE: To measure the effects of long-term consumption of the recommended intake of fibre-rich wheat bread on the iron status of young healthy women with adequate iron stores. DESIGN: Four-months intervention study including healthy female subjects assigned into two groups provided daily with 300 g of fibre-rich wheat bread, prepared with or without phytase as a supplement to their habitual diet. SUBJECTS: Forty-one women aged 24.8 +/- 3.8 years (mean +/- SD) and an average BMI of 22.0 +/- 2.9 kg/m2 participated. Baseline values for serum ferritin were 45 microg/L, 22-83 (geometric mean, range) and for haemoglobin 132 g/L, 119-148 (arithmetic mean, range), respectively. RESULTS: Distribution of energy intake from protein, fat and carbohydrate, and daily intake of dietary fibre and iron were similar in the two groups and within the recommended levels. There was no effect of the phytase added to the wheat bread on the iron status of the subjects, but an effect of the intervention period. Serum ferritin and haemoglobin levels were significantly reduced by 12 +/- 1.1 microg/L (27%) (P < 0.001) and 2 +/- 0.8 g/l (1.5%) (mean +/- SE) (P < 0.05) respectively, after four months of intervention. CONCLUSIONS: The present long-term study indicates that consumption of the recommended daily intake of fibre-rich wheat bread results in an impairment of iron status in women with initially sufficient iron stores. Reduction of the phytic acid concentration in the bread was not sufficient to maintain iron status.

Adult↗
PubMed2004

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes.

The aim of the study was to assess the frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in ethnic Danes. The series comprised 2501 subjects (1284 men) of Danish heritage who were drawn at random from the Census Registry in age cohorts of 30, 40, 50, and 60 years. The frequency of the C282Y and H63D mutations was assessed on blood samples by genotyping using a polymerase chain reaction (PCR) technique. The HFE genotype distribution was in Hardy-Weinberg equilibrium (p=0.85). C282Y mutation: 9 subjects (0.36%) were homozygous and 265 subjects (10.6%) were heterozygous. H63D mutation: 40 subjects (1.6%) were homozygous and 584 subjects (23.4%) were heterozygous. C282Y/H63D compound heterozygosity was found in 36 subjects (1.4%). The C282Y allele frequency was 5.7% [95% confidence interval (CI) 5.0-6.3%] and the H63D allele frequency was 13.3% (95% CI 12.3-14.2%). In conclusion, the C282Y frequency is relatively high in the Danes, being close to the frequency in other Scandinavian countries, i.e., Iceland 5.1%, the Faroe Islands 6.6%, and Sweden 5.7%, but significantly lower than in Norway 6.6% (p=0.02). Also, the H63D frequency in Danes is close to and not significantly different from the frequency in Iceland 10.9%, Norway 11.2%, and Sweden 12.4%, but significantly lower than in the Faroe Islands 15.4% (p=0.046).

Aspartic Acid↗
PubMed2004

Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.

The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele frequency was 8.0% (95% CI 5.3-10.7%). The series contained three (1.5%) H63D homozygous subjects and 60 (30.0%) H63D heterozygous subjects. The H63D allele frequency was 17.5% (95% CI 13.8-21.2%). There were four (2.0%) S65C heterozygous subjects. The S65C allele frequency was 1.0% (95% CI 0.3-2.5%). The frequency of the C282Y mutation is high in Faroese blood donors, being close to and not significantly different from the frequencies reported in other Scandinavian countries: Denmark 5.7%, Norway 6.6%, Iceland 5.1%, and Sweden 6.1%. The frequency of the H63D mutation in Faroese subjects is significantly higher than the frequency in Denmark 12.8% (p=0.007), Iceland 10.9% (p=0.003), and Sweden 12.4% (p=0.015), but not from the frequency in Norway 11.2% (p=0.063). The frequency of the S65C mutation in Faroese subjects is not significantly different from the frequencies in Denmark 1.5% and Sweden 1.6%. Screening of larger groups of the Faroese population for HFE mutations especially C282Y should be considered in order to establish the penetrance.

Blood Donors↗
PubMed2004

Iron status in 358 apparently healthy 80-year-old Danish men and women: relation to food composition and dietary and supplemental iron intake.

In Denmark, the intake of dietary iron has decreased since 1987, when the mandatory iron fortification of flour (30 mg carbonyl iron/kg) was stopped. Since there have been no studies of iron status in elderly Danes after the abolishment of iron fortification, there is a need to assess actual iron status in the elderly population. The objective was to evaluate iron status and the relationship with food composition and dietary and supplemental iron intake in an elderly population in Copenhagen County. Participants in this health examination survey were 358 subjects (171 men, 187 women) 80 years of age from a 1914 cohort study. Blood samples included serum ferritin and hemoglobin (Hb). A dietary survey was performed in 232 subjects (120 men, 112 women) using a dietary history method. Median serum ferritin was 100 microg/l in men and 78 microg/l in women ( p<0.001). Ferritin concentrations <16 microg/l (i.e., depleted iron stores) were found in three men (2%) and in ten women (5%). Median Hb was 140 g/l in men and 131 g/l in women ( p<0.001). Three subjects (0.84%) had iron deficiency anemia (i.e., ferritin <13 microg/l and Hb <5th percentile for iron-replete subjects (121 g/l in men, 114 g/l in women). Ferritin concentrations >300 microg/l (i.e., iron overload) were found in 15 (9%) men and in 5 (3%) women. Median dietary iron intake was higher in men (8.7 mg/day) than in women (7.3 mg/day) ( p<0.001). Serum ferritin was positively correlated to dietary intake of iron, meat, and alcohol and to body mass index in men. Serum ferritin displayed a negative correlation to the consumption of tea. The use of vitamin-mineral supplements containing iron had no influence on iron status. Dietary intake of iron and/or the bioavailability of dietary iron were adequate to maintain a favorable iron status in 80-year-old subjects displaying a low prevalence of iron deficiency and a moderate prevalence of iron overload.

Aged↗
PubMed2004

Long-term outcome of lung transplantation for cystic fibrosis--Danish results.

OBJECTIVE: Over the last decades improvements in medical therapies have delayed the progression of lung disease in cystic fibrosis (CF). However, lung disease is still the most common cause of premature death, and lung transplantation today is the only treatment for end-stage lung disease in patients with CF. We present a retrospective review of the outcome of CF patients transplanted in Denmark since start of the national lung transplantation programme in 1992. METHODS: In a 10-year period, 47 patients with CF were listed for lung transplantation; 29 patients underwent transplantation and 18 patients died while waiting for donor organs. Eleven patients received en block double lung transplantation with direct bronchial artery revascularization and 18 patients received bilateral sequential lung transplantation. Median age at transplantation was 29 years (range 11-50). RESULTS: The perioperative mortality (< or =30 days) was 3.5% (1/29 patients). Actuarial survival of transplanted patients at 1, 3, 5 and 8 years was 89, 80, 80 and 70%, respectively. Actuarial survival of non-transplanted patients on the waiting list at 1 and 2 years was 28 and 11% (P<0.0001). Causes of death of transplanted patients were: respiratory failure on day 7 (n=1), bronchiolitis obliterans syndrome (n=2), infection (Cytomegalovirus, Aspergillus fumigatus) (n=2), bronchial anastomosis dehiscence (n=1). Pulmonary function (FEV1% predicted) improved from median 20% (range 13-31) pre-transplant to 71% (range 19-118) after 5 years (P<0.0001). Renal function (51Cr-EDTA clearance) decreased from median 97 ml/min (range 45-190) pre-transplant to 32 ml/min (range 8-84) 6 months after transplantation (P<0.001). Three patients (11%) received dialysis post-transplant of whom two underwent kidney transplantation. Immunosuppressive induction therapy with rabbit-antithymocyte-globulin compared to daclizumab resulted in fewer treatments for acute rejection within the first 3 months post-transplant (P=0.05 at 5-8 weeks). Burkholderia multivorans was present in three patients pre-transplant with satisfying long-term outcome in one patient. CONCLUSIONS: Lung transplantation is a well-established life-extending treatment for patients with CF and end-stage lung disease. The operative mortality is low and CF patients have a significant early survival benefit after lung transplantation. Satisfying long-term results can be achieved in this young and severely ill group of patients.

Adolescent↗
PubMed2004

Elements in autopsy liver tissue samples from Greenlandic Inuit and Danes. V. Selenium measured by X-ray fluorescence spectrometry.

The content of selenium in normal liver tissue samples from Greenlandic Inuit was measured and the results compared with those obtained in normal liver tissue samples from Danes. Normal liver tissue samples were obtained at autopsy from 50 Greenlandic Inuit (27 men, 23 women) with a median age of 61 years (range 23-83) and from 74 Danes (44 men, 30 women) with a median age of 60 years (range 15-87). Total liver selenium content was measured by X-ray fluorescence spectrometry. The content of selenium (median) was in Inuit 26.6 micromol/kg dry liver (5-95 percentile: 15.2-49.4) and in Danes 17.7 micromol/kg dry liver (5-95 percentile: < 3.8-36.5) (p < 0.0001). Liver selenium content displayed no significant gender difference, either in Inuit or Danes. In Inuit men, there was a negative correlation between liver selenium content and age (rs = -0.39, p < 0.05), whereas Danish men displayed a positive correlation between liver selenium content and age (rs = 0.37, p = 0.02). There was no correlation in Inuit or Danish women. In Inuit, the median hepatic selenium index (liver selenium content divided by age) was 0.48 and in Danes 0.33 (p = 0.001). There was an inverse correlation between hepatic selenium index and age both in Inuit (rs = -0.77, p < 0.0001) and in Danes (rs = -0.47, p < 0.0001). In conclusion, Inuit had a higher liver content of selenium and a higher hepatic selenium index compared with Danes. The more favourable selenium status is due to a higher nutritional selenium intake with fish and meat from sea mammals.

Adolescent↗
PubMed2004

Prolonged culture for mycobacteria in mediastinal lymph nodes from patients with pulmonary sarcoidosis. A negative study.

BACKGROUND: Histological similarity between sarcoidosis and tuberculosis, with epithelioid cell granulomas as the typical finding, suggests that sarcoidosis could be a specific manifestation of infection with mycobacteria. However, convincing evidence for a causal relationship between mycobacterial infection and sarcoidosis has not been produced. OBJECTIVE: To examine whether mycobacteria could be cultured from mediastinal lymph nodes from patients with newly diagnosed pulmonary sarcoidosis using a prolonged culture technique. METHODS: The series comprised 15 patients (10 men) with a median age of 45 years (range 25-61) and chest X-ray showing mediastinal lymphadenopathy. The diagnosis of sarcoidosis was based on biopsy specimens of lymph nodes obtained by mediastinoscopy. Lymph node tissue was processed in a prolonged (12 month duration) culture for mycobacteria. Bronchial washings were obtained by bronchoscopy and examined for mycobacteria using fluorescence microscopy, polymerase chain reaction (PCR) for Mycobacterium tuberculosis (M. tuberculosis) DNA and standard culture (7-week duration). RESULTS: In all lymph node specimens, prolonged culture for mycobacteria was negative. In all bronchial washings, microscopy for mycobacteria, analysis for M. tuberculosis DNA, and standard culture for mycobacteria was negative. CONCLUSION: Our study with prolonged culture failed to demonstrate the presence of mycobacteria in sarcoid tissue, especially M. tuberculosis and M. paratuberculosis, and does not suggest that mycobacterial infection could play a direct pathogenic role in patients with pulmonary sarcoidosis.

Adult↗
PubMed2003

Frequencies of the hereditary hemochromatosis allele in different populations. Comparison of previous phenotypic methods and novel genotypic methods.

AIM: The frequencies of the hereditary hemochromatosis allele were compared for different populations assessed by previous phenotypic methods and the present genotypic methods. METHODS: From a literature survey, the calculated hemochromatosis allele frequencies from 16 studies using phenotypic biochemical markers (threshold levels for transferrin saturation [range, 46%-70%] and serum ferritin [range, 164-700 microg/L]) were compared with allele frequencies of the Cys282Tyr mutation of the hemochromatosis gene reported in 19 genotypic studies. RESULTS: Calculated phenotypic allele frequencies are high in Scandinavia: Iceland, 6.1% to 7.4%; Norway, 5.8%; central Sweden, 6.3% to 6.9%; Denmark, 6.1%. Frequencies are similarly high in Wales, Canada, Utah, South Africa, and Australia (range, 5.2%-9.8%). Frequencies are low in Finland (1.9%) and northern Italy (4.5%). Genotypic allele frequencies of the Cys282Tyr mutation are likewise high in Scandinavia. Frequencies are high in the United Kingdom and northern France and low in Finland, central Germany, northern Italy, and Greece. The phenotypic-genotypic ratios of the hemochromatosis homozygosity frequencies for the same geographic area were calculated. A ratio of 1.0 indicates that the 2 methods give similar results. In 3 studies, the ratio was above 1.0, the highest ratio of 1.67 being reported from Italy. In most studies the ratio was slightly below 1.0 (0.71-0.97). The lowest ratio was found in Finland (0.33). CONCLUSION: In most studies there was good agreement between the hemochromatosis allele frequencies determined by phenotypic and genotypic methods. A high ratio (northern Italy) may indicate that phenotypic selection criteria were too loose and/or that causes of iron overload other than the Cys282Tyr mutation are frequent in the region. A low ratio (in Finland) may indicate phenotypic selection criteria that were too stringent and/or a low penetration rate of the mutation.

Biomarkers↗