Erythropoiesis: Correlations Between Iron Status Markers During Normal Pregnancy in Women with and without Iron Supplementation

The aim was to evaluate relationships between iron status markers (haemoglobin, erythrocyte indices, serum iron, serum transferrin, serum transferrin saturation, serum ferritin) in normal pregnancy. Iron status markers were measured at 4-week-intervals during pregnancy and postpartum in 120 healthy women; 62 had daily treatment with tablets containing 66 mg ferrous iron, 58 were treated with placebo. Placebo-treated: Ferritin displayed positive correlations with transferrin saturation during 2nd and 3rd trimester. There were positive correlations between ferritin, erythrocyte MCV and MCH during 2nd and 3rd trimester and postpartum. Prior to delivery and postpartum, ferritin demonstrated positive correlations with haemoglobin. Transferrin saturation showed positive correlations with MCV, MCH and MCHC during 2nd and 3rd trimester and postpartum. Transferrin saturation displayed positive correlations with haemoglobin prior to delivery and postpartum. Iron-treated: In general, there were no correlations between iron status markers. Positive correlations appeared postpartum between ferritin, transferrin saturation and MCHC but not with haemoglobin. Transferrin saturation showed a positive correlation with MCH postpartum, but not with haemoglobin. Conclusion: The patterns of relationships in placebo-treated women were consistent with iron deficient erythropoiesis.     

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical idiopathic haemochromatosis diagnosed by phenotypic methods (serum transferrin saturation, serum ferritin, liver biopsy and mobilisable body iron stores). In 32 unrelated patients, frozen blood samples were available for genetic analysis. In a subsequent series of 26 unrelated Danish patients, a phenotypic diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS: Among the patients, 55 of 58 (94.8%) were C282Y/C282Y homozygous. One 63-year-old woman (1.7%) was compound C282Y/H63D heterozygous. Two women (3.4%), aged 42 and 43 yrs were negative for both the C282Y and the H63D mutation. CONCLUSION: In the Danish population, homozygosity for the C282Y mutation appears to be the prevailing cause of clinically overt genetic haemochromatosis. This finding has implications both for the evaluation of patients with iron overload disorders and for the strategy in future population screening surveys.     

Fluorodeoxyglucose PET scan in pulmonary sarcoidosis during treatment with inhaled and oral corticosteroids

The objective was to investigate longitudinal changes in fluorodeoxyglucose PET scan (FDG-PET) in a patient with pulmonary sarcoidosis prior to and during treatment with inhaled corticosteroids followed by systemic corticosteroids. The patient was a 41-year-old man presenting with stage I pulmonary sarcoidosis (hilar adenopathy), which had progressed to stage II (pulmonary infiltrates) 19 months later. FDG-PET was performed at 19, 29 and 33 months after presentation. No treatment was given prior to the 1st PET. Subsequently, before the 2nd PET, the patient was treated with inhaled beclomethasone (QVAR Autohaler) 0.8 mg/day for 8 months. Finally, prior to the 3rd PET, the patient was treated with oral prednisolone 30 mg/day for 3 months. The 1st PET showed a high FDG uptake in the hilar and mediastinal lymph nodes and a high focal uptake in the peripheral parts of the lungs. The 2nd PET showed a slight uptake in a few mediastinal lymph nodes and an unchanged high focal uptake in the peripheral parts of the lungs and the pleura. The 3rd PET showed no abnormal uptake at all. In conclusion, as assessed by FDG-PET, inhaled beclomethasone had no recognizable influence on sarcoid inflammatory activity. Treatment with oral prednisolone depressed the inflammatory activity to such a degree that it was undetectable by PET. The results are in accordance with clinical studies on pulmonary sarcoidosis, showing a marginal effect of inhaled corticosteroids and a marked effect of systemic corticosteroids.     

Health status of patients with juvenile rheumatoid arthritis at 1 and 5 years after diagnosis

OBJECTIVE: To describe the health and functional status of children with juvenile rheumatoid arthritis (JRA) diagnosed in the early 1990s. METHODS: Patients were obtained from the Pediatric Rheumatology Disease Registry, a database of patients seen in pediatric rheumatology centers across the United States. Questionnaires designed to be filled out after retrospective chart review were sent to pediatric rheumatologists caring for children diagnosed with JRA between 1992 and 1997. RESULTS: We studied 703 patients -- 376 with pauciarticular onset (pauci), 232 with polyarticular onset (poly), and 95 with systemic onset JRA (systemic). At 1 year after diagnosis, half of the pauci and systemic patients no longer required medication, compared to 78% of the poly patients; 98% of the patients functioned in Steinbrocker classes I and II. Six percent of pauci, 27% of poly, and 11% of systemic patients had limitations in school function. Nearly 1/3 of poly patients already had joint space narrowing on radiograph. By 5 years after diagnosis, all pauci, 88% of poly, and 70% of systemic patients were in Steinbrocker classes I and II; but 6% of pauci, 28% of poly, and 44% of systemic patients had limitations in school function. Nearly 2/3 of poly and systemic patients had joint space narrowing. CONCLUSION: In these children treated prior to the era of biologic therapy, at 5 years after onset, > 25% of poly and nearly half of systemic patients had functional limitations that required modifications in their school schedule. Radiographically evident joint space damage was seen within a year of onset in poly patients, and by 5 years 2/3 of poly and systemic patients had damage.     

Large complex odontoma of the left maxillary sinus

Odontomas as a group are the most common odontogenic neoplasms. They are mixed lesions containing fully formatted dental tissues, both epithelial and mesenchymal, and are usually found during a routine radiographic examination or as a factor in noneruption. Odontomas can be divided into two types: the complex and the compound odontoma. Both types are composed of enamel, dentin, cementum and pulp tissues, but in complex odontomas the tissues are arranged in a haphazard fashion with no discernible dental structures, whereas in compound odontomas the dental tissues exist in a more regular pattern so that the lesion consists of tooth-like structures. We report a case of a 23-year-old man with a large complex odontoma involving the left maxilla and maxillary sinus with clinical, radiographic and histological findings. Because of the size of the mass and its clinical course, benign neoplasms were considered in the differential diagnosis. Surgery was the treatment of choice, and recurrence of the lesion is not expected.     

HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13.0% (0%) C282Y homozygotes, 5.8% (2.6%) H63D/C282Y compound heterozygotes and 1.9% (3.1%) S65C heterozygotes. The values for 420 Danish blood donors are shown in parentheses. The distribution of genotypes in group B was similar to that of the blood donors. Serum ferritin, transferrin iron saturation and pathological data were collected from 38 randomly selected C282Y homozygotes, 36 H63D/C282Y compound heterozygotes, 19 H63D heterozygotes, 17 S65C heterozygotes and 144 wild-types. All of the C282Y homozygotes and 28% of the compound heterozygotes were diagnosed as HH patients. There was no evidence of HH in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection is generally adequate. However, the study showed substantial deviation in the selection efficiency among the various hospitals and general practitioners.