Hand and wrist arthralgia in systemic lupus erythematosus is associated to ultrasonographic abnormalities

ObjectiveSystemic lupus erythematosus (SLE) is an autoimmune disease which may has joint impairment. Often, SLE patients complain of hand and wrist arthralgia (HA). Usually, these patients do not show any swelling in the physical exam. Our aim was to demonstrate Power Doppler Ultrasound (PDUS) abnormalities in SLE patients with HA.MethodsWe recruited 58 consecutive SLE patients and divided them into two groups: case group (n = 28) were patients with HA, and control group (n = 30) were patients without HA. We also collected socio-demographic and disease activity data, biological markers and SLEDAI index. We evaluated disability and quality of life by mHAQ and SF-12, respectively. We performed a bilateral hand and wrist PDUS on all patients. PDUS findings were based in OMERACT-7 group criteria.ResultsWe found PDUS abnormalities in most of SLE patients who suffered HA, when compared to SLE controls (P < 0.001). The main findings in Case Group were: tenosynovitis (39.2%), synovial effusion or hypertrophy (25%) and active synovitis (14.2%). SLEDAI score and dsDNA antibodies were related to the presence of PDUS abnormalities (P < 0.05 and P < 0.001, respectively). We also found worse physical SF-12 (P < 0.05) and mHAQ (NS) scores in case group.ConclusionsSLE patients who present HA have more PDUS abnormalities. These findings are associated with a higher SLEDAI score and dsDNA antibodies. This articular affection may contribute to a worsened functional ability and a lower quality of life. PDUS seems to be a reliable tool in the assessment of SLE patients with HA.     

Immunotherapy with fragmented Mycobacterium tuberculosis cells increases the effectiveness of chemotherapy against a chronical infection in a murine model of tuberculosis

Reduction of colony forming units by rifampicin-isoniazid therapy given 9-17 weeks post-infection was made more pronounced by immunotherapy with a vaccine made of fragmented Mycobacterium tuberculosis cells detoxified and liposomed (RUTI), given on weeks 17, 19 and 21 post-infection, in the murine model of tuberculosis in C57BL/6 and DBA/2 inbred strains. RUTI triggered a Th1/Th2 response, as demonstrated by the production of IgG1, IgG2a and IgG3 antibodies against a wide range of peptides. The histological analysis did not show neither eosinophilia nor necrosis, and granulomatous infiltration was only slightly increased in C57BL/6 mice when RUTI was administered intranasally.     

Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy

OBJECTIVE: To assess the potential value of ductus venosus Doppler studies in the detection of fetal aneuploidy on measurement of nuchal translucency. METHODS: The pulsatility index for veins (PIV) and the lowest velocity during atrial contraction (A-wave) were determined in the fetal ductus venosus in 3382 consecutive pregnancies at 10 to 14 weeks and studied from December 1996 to December 2001. Nuchal translucency was also measured. The population studied included 1664 pregnancies at high risk and 1718 at low risk for fetal aneuploidy. RESULTS: In relation to the prenatal detection of trisomy 21, the ductus venosus PIV was increased in 75% (36/48), the A-wave was decreased in 58% (28/48), and nuchal translucency was enlarged in 81% (39/48) of the trisomy 21 fetuses [71% (22/31) when nuchal translucency referrals were excluded]. The corresponding figures for trisomies 18 and 13 were 71, 58 and 83%, respectively, being 33, 33 and 33% for other unbalanced anomalies. CONCLUSION: There is a high proportion of fetuses with trisomies 21, 18 and 13 (around 75%) in which the ductus venosus PIV is increased (above the 95th percentile) at 10 to 14 weeks, this proportion being similar to that observed for increased nuchal translucency measurement.     

Cardiac function monitoring of fetuses with growth restriction

Objective: To describe the time sequence of changes in cardiac function in intrauterine growth restriction. Study design: This was a prospective longitudinal study on 22 singleton pregnancies with growth-restricted fetuses. Pulsatility indices of fetal arterial and venous Doppler waveforms, systolic peak velocity in the aorta and pulmonary artery, right and left ventricular shortening fraction and atrioventricular flow E/A ratio were assessed at each monitoring session. Logistic regression was used for modeling the probability of abnormality of a variable in relation to the time interval before delivery. Trends over time were analyzed by Mann–Withney U-test. Results: Umbilical artery pulsatility index was the first variable to become abnormal, followed by the middle cerebral artery, right diastolic indices (right E/A, ductus venosus), right systolic indices and, finally, both diastolic and systolic left cardiac indices. Conclusion: We have found an earlier and more pronounced right than left and diastolic than systolic fetal cardiac function deterioration in growth restricted fetuses monitored longitudinally.     

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. In addition, this region is one of the best replicated linkage findings for schizophrenia. Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. Preliminary data indicates that individuals with these duplications also suffer from neuropsychiatric disorders. In this study we have investigated the appropriateness of testing schizophrenia patients for the 22q11.2 microduplication. We used multiplex ligation-dependent probe amplification (MLPA) to measure copy number changes on the 22q11.2 region in a sample of 190 patients with schizophrenia. Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia.     

Utility of week-4 viral response to tailor treatment duration in hepatitis C virus genotype 3/HIV co-infected patients

OBJECTIVE: To investigate the utility of a week-4 virological response for sustained response prediction in hepatitis C virus (HCV) genotype 3/HIV-co-infected patients treated with interferon and ribavirin for 24 weeks. METHODS: Using a real-time polymerase chain reaction-based quantitative assay (COBAS AmpliPrep-COBAS-TaqMan 48; Roche Diagnostics) we retrospectively analysed samples obtained at baseline and weeks 4 and 12 from a subset of 35 HCV genotype 3-HIV co-infected patients enrolled in a randomized comparative trial of peginterferon alpha-2b versus interferon alpha-2b both in combination with ribavirin. RESULTS: In an intention-to-treat analysis, 78% of patients treated with peginterferon and 53% of those receiving standard interferon achieved a sustained virological response (SVR) Overall, at 4 weeks, 49% of patients had HCV RNA < 50 IU/ml and 63% had < 600 IU/ml. Of these rapid responders 88 and 86% achieved a SVR, respectively, with only one patient relapsing among end-of-treatment responders. In contrast, only 44 and 31% of patients with a week-4 HCV RNA >or= 50 or >or= 600 IU/ml achieved an SVR, respectively, with relapse rates of 33 and 50%, respectively. In multivariate logistic regression analysis a serum HCV RNA level below 600 IU/ml at week 4 was the strongest independent predictor of SVR (odds ratio, 11.3; 95% confidence interval, 1.7 to 75.0; P = 0.012). CONCLUSION: Monitoring early viral response may be useful to tailor the duration of treatment among patients with HCV genotype 3/HIV-co-infection. Patients whose HCV RNA falls below 600 IU/ml at 4 weeks are at low risk of relapse after 24 weeks of combination therapy.     

Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia

Relationships between gender, age-of-onset of schizophrenia and reproductive age strongly suggest a key role for gonadal hormones, and more specifically for estrogens, in the etiology of the illness. Also, estrogens act as neural growth and trophic factors influencing neuron and glial cells in many areas of the central nervous system. Therefore, we investigated the association between schizophrenia and 4 genes related to estrogen metabolism. These genes are ESR1 (estrogen receptor 1), ESR2 (estrogen receptor 2), APOE (apolipoprotein E) and COMT (catechol-O-methyltransferase). The expression of APOE and COMT, which contain estrogen response elements, have been demonstrated to be regulated by the estrogen receptors. In this current association study, we examined 59 single nucleotide polymorphisms (SNPs) located in the ESR1 (26), ESR2 (14), APOE (7) and COMT (12) loci. Allele frequencies were evaluated in the schizophrenia (n = 585)-control (n = 615) sample and no association was found with any of the four genes. In conclusion, our data suggest that the four analyzed genes do not play an important role in susceptibility to schizophrenia.