Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy

BACKGROUND: Hereditary hemochromatosis (HH), a common autosomal recessive disease, leads to excessive iron accumulation in some organs, including the heart. It is therefore not surprising that cardiomyopathy is one of the most severe complications of HH. The HFE gene defects have been thought to contribute to idiopathic dilated cardiomyopathy (IDCM) in some patients, even though the results of genotype analyses have so far been contradictory. Hence we set out here to evaluate the prevalence and potential role of HFE mutations in patients with IDCM. METHODS: A total of 91 IDCM patients and 102 controls were subjected to HFE mutation analyses, in which C282Y, H63D and S65C mutations were determined for each patient. We also analyzed the impact of the C282Y and H63D mutations on the left ventricular end-diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF) and New York Heart Association (NYHA) functional classes. RESULTS: The prevalences of heterozygosity for the C282Y, H63D and S65C mutations in the IDCM patients were 13.2%, 22.0% and 2.2%, respectively. LVEDD was significantly higher (P=0.037) in those with the C282Y mutation at the end of the follow-up period than in those with no mutation. CONCLUSIONS: Our data showed no significant deviations in C282Y, H63D and S65C mutation frequencies between the IDCM patients and controls, suggesting that these mutations do not increase the risk of IDCM. Heterozygosity for the C282Y mutation may nevertheless be a modifying factor contributing to LV dilatation and remodeling.     

Repeat prescribing processes in primary care: a qualitative study

Objective To investigate the characteristics, local agreements and changes regarding repeat prescribing processes in primary health care in Finland. Setting Twenty‐eight municipal health centres nationwide. Method Twenty‐eight physicians and 28 medical receptionists were given semi‐structured telephone interviews about repeat prescribing practices. The repeat prescribing process of each health centre was displayed as a flow chart and the processes were classified according to the quality of the practical flow and the medication review. Key findings There are various ways of carrying out repeat prescribing in different health centres. In some centres, a review of the medications is recognised as part of the repeat prescribing process, but in others there is no systematic review of the patients' medication. Repeat prescribing is often performed in a busy atmosphere. Repeat prescribing systems have evolved over time without proper management, and few local guidelines exist. Conclusions There is a need to reorganise the repeat prescribing systems in primary health care. A regular review of long‐term medications, in particular, needs to become a part of the repeat prescribing process. There is a need for both local and national guidelines.     

Efficacy of gonadotropin-releasing hormone agonist (buserelin) in the treatment of endometriosis

In a multicenter study, the efficacy of and tolerance of 6 months' intranasal gonadotropin-releasing hormone agonist (buserelin) treatment (300 micrograms x 3/day) on laparoscopically verified endometriosis was evaluated in 25 patients. At second-look laparoscopy at the end of medication, the mean endometriosis score had fallen by 82.2%. All endometriosis-associated symptoms and physical findings decreased or almost disappeared during buserelin administration. After discontinuing therapy, they showed a tendency to reappear, but nevertheless they were milder after one year of follow-up, than before treatment. Seven (54%) of the 13 women wishing pregnancy actually conceived. Vaginal irregular spotting bleedings during the first 2 months occurred in 7 patients. No patient withdrew from the trial because of side effects, although almost all women developed symptoms of estrogen deficiency (serum estradiol concentrations fell to menopausal levels).     

Occupational class inequalities across key domains of health: results from the Helsinki Health Study

BACKGROUND: Studies comparing socioeconomic inequalities in health using several health indicators are scarce. Therefore, this study aims to compare the shape and magnitude of occupational class inequalities across key domains of health, i.e. the subjective, functional and medical domains. Additionally, we examine whether physical or mental workload will affect these inequalities, and whether these effects are specific to particular health indicators. METHODS: Cross-sectional survey data from the Helsinki Health Study in 2000 and 2001 were used. Each year employees of the City of Helsinki, reaching 40, 45, 50, 55 and 60 years received a mailed questionnaire. 6243 employees responded (80% women, response rate 68%). The socioeconomic indicator was occupational social class. Nine health indicators were included: self-rated health, pain or ache, GHQ-12 mental well-being, limiting long-standing illness, SF-36 physical and mental health functioning, Rose angina symptoms, circulatory diseases and mental problems. Prevalence percentages, odds ratios and inequality indices from logistic regression analysis were calculated. RESULTS: Occupational class inequalities were found for self-rated health, pain or ache, limiting long-standing illness, physical health functioning, angina symptoms, and circulatory diseases. Physical or mental workload did not account for these inequalities. Inequalities were non-existent or slightly reversed for GHQ-12 mental well-being, SF-36 mental health functioning and mental problems. CONCLUSION: Expected occupational class inequalities in health among both women and men were found for global and physical health but not for mental health. The observed inequalities could not be attributed to physical or mental workload.     

Fuzzy detection of EEG alpha without amplitude thresholding

Intelligent automated systems are needed to assist the tedious visual analysis of polygraphic recordings. Most systems need detection of different electroencephalogram (EEG) waveforms. The problem in automated detection of alpha activity is the large inter-individual variability of its amplitude and duration. In this work, a fuzzy reasoning based method for the detection of alpha activity was designed and tested using a total of 32 recordings from seven different subjects. Intelligence of the method was distributed to features extracted and the way they were combined. The ranges of the fuzzy rules were determined based on feature statistics. The advantage of the detector is that no alpha amplitude threshold needs to be selected. The performance of the alpha detector was assessed with receiver operating characteristic (ROC) curves. When the true positive rate was 94.2%, the false positive rate was 9.2%, which indicates good performance in sleep EEG analysis.     

Improved computational fronto-central sleep depth parameters show differences between apnea patients and control subjects

All-night EEG recordings from 12 male apnea patients and 12 age-matched healthy control subjects were studied in the present work. The spectral mean frequency was used to provide computational sleep depth curves from two frontopolar and two central EEG channels. Our previously presented computational parameters quantifying the properties of the sleep depth curves were improved. The resulting light sleep percentage (LS%) values were higher in apnea patients than in control subjects in the right central brain position (P = 0.028), in concordance to our previous work. Moreover, apnea patients showed higher LS% values in the right frontopolar position (P = 0.008). Also, apnea patients showed a smaller anteroposterior sleep depth difference than control subjects on the right hemisphere (P = 0.002). These are interesting new findings, achieved by the present methodology. Thus, the developed computational parameters were able to quantify, at least to some degree, the disruption of sleep process caused by the recurrent apneic events.     

Diffuse sleep spindles show similar frequency in central and frontopolar positions

The objective of the present work was to examine fronto-central spindle frequency. A previously validated spindle detector, providing an electroencephalographic (EEG) amplitude independent spindle detection, was used to detect bilateral sleep spindles from sleep EEG recordings of ten healthy subjects with a time resolution of 0.33-s. A bilateral spindle detected centrally and frontopolarly simultaneously is called here a diffuse spindle. A bilateral spindle detected only frontopolarly or centrally at a given time is called a pure frontopolar and a pure central spindle, respectively. Spindle frequency was obtained with zero-padded discrete Fourier transform (DFT). Waveform phase angle of diffuse spindles was also examined. A total of 1230 diffuse spindles and 5316 pure central and 2595 pure frontopolar spindles were detected. The difference of median spindle frequency between central and frontopolar brain positions was clearly smaller in diffuse spindles than in pure spindles. Moreover, 34% of the diffuse spindles showed a similar frequency in central and frontopolar locations. This figure was up to 50.9% when including the 700 diffuse spindles fulfilling a strict anteroposterior (AP) timing criteria. The timing criteria selection in diffuse spindle analysis is a new functionality, enabled by the present spindle analysis method. Diffuse spindles showed coherent spindle oscillation in a large fronto-central area. Pure frontopolar spindles might be special cases of diffuse spindles, both of them seem to be generated in the nucleus medialis dorsalis (NMD) of the thalamus.     

Factors associated with progression of cervical human papillomavirus (HPV) infections into carcinoma in situ during a long-term prospective follow-up

In the course of a prospective study of 508 women with papillomavirus (HPV) lesions of the uterine cervix, 66 lesions that progressed into carcinoma in situ (CIS) were identified and treated by conization during a mean follow-up period of 35 months. The lesions were investigated with light microscopy and with in-situ DNA hybridization using 35S-labelled probes for HPV 6, 11, 16, 18, 31 and 33. After radical cone treatment, 11 of the 66 women (16.7%) have presented with a recurrent HPV infection. The recurrence rate increased with the duration of the follow-up period from less than 10% at the mean follow-up of 25 months to 16.7% at the most recent follow-up at 35 months. Most of these 66 HPV lesions (89%) presented with concomitant CIN in the first punch biopsy, but it is noteworthy that the other 11% presented without concomitant CIN. HPV DNA of at least one of the six types examined was found in 73% of the first biopsies and it is noteworthy that the so-called 'low-risk' types, HPV 6 and 11, were found as frequently as the 'high-risk' types, HPV 16 and 18 (18% and 17%, respectively). This would suggest a similarity in the biological behaviour of these two HPV groups. Although the concept of the 'high-risk' and 'low-risk' HPV types may remain at least partially valid, it is imperative to realize that infection by HPV 6 and 11 by no means excludes the possibility for clinical progression into CIS and eventually to an invasive carcinoma.