Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study.

Objectives: To investigate epidemiology, demography, and genetic and clinical characteristics of patients with familial Mediterranean fever (FMF) in Denmark. Method: In this population-based, cross-sectional cohort study, we identified FMF patients from discharge diagnoses using ICD-10 codes in the Danish National Patient Register, and linked data from the Danish Civil Registration System and laboratory databases for results of MEFV gene variant screening. Results: We identified 495 FMF patients (prevalence 1:11 680) with a median age of 29 years and a female ratio of 51%. The median age at diagnosis of FMF was 13 (IQR 7-22) years, with an estimated median diagnostic delay of 3 (IQR 0.7-6.9) years. The predominant ethnicities were Turkish (41.8%), Lebanese (15.8%), Syrian (6.5%), South-West Asian (7.9%), and South-East Asian (3.0%). The MEFV genotype distribution was 18.7% homozygous, 21.2% compound heterozygous, 32.0% heterozygous, 11.0% with complex alleles or unresolved zygosity, and 17.1% with no detected variants. M694V was the most prevalent variant in the overall cohort (32.5%). Homozygous or compound heterozygous MEFV exon 10 variants were associated with younger age at diagnosis (p < 0.001) and reduced number of hospital contacts before diagnosis (p = 0.008). The Charlson Comorbidity Index was ≥ 2 in 8.1% of patients. The prevalence of amyloidosis was 1.0%. Conclusions: FMF in Denmark is rare and patients are mainly of Eastern Mediterranean ethnicity. Diagnostic delay was long but patients with exon 10 MEFV variants were diagnosed at a younger age. Prolonged diagnostic delay is probably caused by lack of FMF awareness in the Danish healthcare system.

'Simply forgot' is the most frequently stated reason for missed doses of HAART irrespective of degree of adherence.

OBJECTIVES: Previous studies have reported that forgetfulness is the most frequently mentioned reason for missed doses among patients on highly active antiretroviral therapy (HAART). However, no previous study has compared the reasons given by highly nonadherent patients with the reasons given by patients with better adherence. The objective of this study was to examine further patients' self-reported reasons for missing doses of HAART and to compare the reasons given by patients with lower adherence with those given by patients with higher adherence. METHODS: All patients visiting the clinics participating in the Danish HIV cohort study during a 1-year period (July 2002 to June 2003) were eligible if they had started HAART at least 6 months previously. Consenting patients completed an anonymous self-administered questionnaire based upon the adult AIDS Clinical Trial Group adherence questionnaires. Lower adherence was defined as reporting a missed dose within the preceding 4 days. RESULTS: We received usable questionnaires from 840 (75%) of the 1126 eligible patients. Patients with lower adherence reported the same reasons for missed doses as patients with higher adherence (Spearman's rho=0.952, P<0.0001). In both groups of patients the three most frequently reported reasons for missed doses were 'simply forgot', 'were away from home', and 'had a change in daily routines'. CONCLUSIONS: Patients with poorer adherence to HAART state the same reasons for missing doses as patients with better adherence, and 'simply forgot' is the most frequently stated reason.

Resistance profiles and adherence at primary virological failure in three different highly active antiretroviral therapy regimens: analysis of failure rates in a randomized study.

OBJECTIVES: To investigate the interplay between resistance and adherence in the virological failure of three fundamentally different highly active antiretroviral therapy (HAART) regimens. METHODS: We retrospectively identified 56 verified primary virological failures (viral load >400 HIV-1 RNA copies/mL) among 293 patients randomized to two nucleoside reverse transcriptase inhibitors (NRTIs)+ritonavir+saquinavir (RS-arm) (n=115), two NRTIs+nevirapine+nelfinavir (NN-arm) (n=118), or abacavir+stavudine+didanosine (ASD-arm) (n=60) followed up for a median of 90 weeks. Data on adherence were collected from patient files, and genotyping was performed on plasma samples collected at time of failure. RESULTS: Treatment interruption or poor adherence was mainly caused by side effects and accounted for 74% of failures, and was associated with absence of resistance mutations. In the 30 failing patients not switched from randomized treatment, we found resistance in two of 12 patients in the RS-arm (M184 V only), four of six patients in the NN-arm [all four had non-nucleoside reverse transcriptase inhibitor (NNRTI) mutations], and seven of 12 patients in the ASD-arm (NRTI mutations only). Two adherent patients on randomized treatment failed in the RS-arm, none in the NN-arm, and six in the ASD-arm. CONCLUSIONS: Primary virological failure was caused mainly by treatment interruption. No primary protease inhibitor (PI) mutations were found in patients failing on boosted saquinavir, whereas resistance to NNRTIs and NRTIs was prevalent in several patients failing on regimens based on these medications.

[Placebo and superfluous actions in clinical practice]. / Om placebo og overflødige tiltag i klinisk praksis.

There is a therapeutic potential in the doctor-patient relationship, in the diagnostic process, and in the symbolic elements of medical therapy. This unspecific effect seems, however, to be mainly caused by the doctor-patient relationship and the diagnostic process, and superfluous investigations and treatments should therefore not be initiated due to an unfounded idea about the potential of the so-called placebo effect. This article tries to identify the unspecific elements in therapy and their therapeutic potential. It is pointed out, that the outcome of a treatment is a sum of the effect of the relationship between the physician and the patient, plus the specific biological treatment effect, plus the incidental effect including the effect of the patients knowledge of being under treatment. The article asks for more research in the first and the last of these three components of therapy.

[HIV-positive refugee from Africa with low compliance. Interview about reasons for treatment failure]. / HIV-positiv flygtning fra Afrika med nedsat komplians. Interview om baggrunden for behandlingssvigt.

Strict compliance is required for a sustained response to antiretroviral therapy for HIV. Several studies from the US have found that African-Americans are less compliant and are more liable to treatment failure than caucasians. We describe a young, male refugee from Africa with treatment failure after non-compliance. A qualitative interview shows that his main reason for non-compliance is fear of disclosure and stigmatization. There seems to be a need for research into the reasons for non-compliance among vulnerable groups and targeted interventions.

[Severe stomatitis caused by Mycoplasma pneumoniae infection]. / Svaer stomatit udløst af infektion med mycoplasma pneumoniae.

Mycoplasma pneumoniae infection is sometimes followed by systemic reactions such as erythema multiforme major/Stevens-Johnsons syndrome. In the described case, a 30 year-old man developed severe inflammation of the oral mucous membranes following respiratory infection with Mycoplasma pneumoniae. There was also conjunctivitis and diarrhoea, and a target-like eruption was seen on the penis, but apart from slight perioral erythema and periorbital swelling, no further skin involvement was seen. The patient was treated with macrolide antibiotics for 14 days and gradually recovered.