Application of the DETECT algorithm for detection of risk of pulmonary arterial hypertension in systemic sclerosis: data from a Czech tertiary centre.

OBJECTIVE: The early, simple and reliable detection of pulmonary arterial hypertension (PAH) in SSc (DETECT) study described a new algorithm for early detection of PAH in patients with SSc. The aim of this retrospective, single-centre, cross-sectional study was to apply a modified DETECT calculator in patients with SSc in the East Bohemian region, Czech Republic, to assess the risk of PAH and to compare these results with PAH screening based on the European Society of Cardiology/European Respiratory Society (ESC/ERS) 2009 guidelines. METHODS: Sixty patients were recruited with a diagnosis of SSc (according to ACR criteria), aged 27-78 years. A modified DETECT algorithm using the modified parameter of (1.4 × right ventricle diameter)(2) in place of right atrium area was applied to all patients. Right heart catheterization (RHC) was performed in all patients with an estimated (by echocardiography) increased systolic pulmonary artery pressure ≥50 mm Hg in accordance with the ESC/ERS guidelines; however, RHC was not performed in patients solely recommended for RHC using the modified DETECT algorithm. RESULTS: Using the modified DETECT calculator, 24/58 (41.4%) patients were recommended for RHC, compared with 14/58 (24.1%) when applying the ESC/ERS 2009 guidelines. PAH was diagnosed in 7/58 (12.1%) patients. During follow-up, PAH was diagnosed in six patients. Of these, four were modified DETECT score-positive for 2 years and all for 1 year before PAH diagnosis. CONCLUSION: The modified DETECT algorithm detects all patients with PAH diagnosed according to ECS/ERS 2009 guidelines and RHC. Data of the 2-year follow-up indicate a possible positive predictive role for the modified DETECT calculator.

[Secondary humoral immunodeficiency in patiens with systemic lupus erythematosus]. / Sekundární humorální imunodeficience u nemocných se systémovým lupus erythematodes.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a chronic autoimmune multisystem disease. The aim of our study was to clarify the frequency of decreased serum immunoglobulin levels in SLE patients. There were evaluated 799 results of serum immunoglobulin levels gained from 157 patients fulfilling revised ACR criteria in the retrospective study. RESULTS: The immunoglobulin levels under the normal range were found in 29/157 (18.5 %) patients. The most frequent was isolated reduction of IgG 12/157 (7.6 %), two persons fulfilled criteria for selective IgA deficiency, and one case possible diagnosis of common variable immunodeficiency (CVID). Additionally we report two cases of SLE patients complicated by severe hypogammaglobulinaemia and infectious complications with necessity of long-term immunoglobulin substitution therapy. The diagnosis of CVID is highly probable in the first case. The second case presents sever drug-induced hypogammaglobulinaemia. This female with lymphoma history and multiorgan impairment due to acute SLE was treated with rituximab after convention therapy failure. CONCLUSION: Humoral immunodeficiency may occur in SLE patients. The monitoring of serum immunoglobulin levels could be a routine in these patients. The CVID diagnosis is possible in patients suffering from recurrent sinopulmonary infections, especially in combination with absence of lupus activity. Rituximab therapy could cause long-term suppression of B lymphocytes with secondary humoral deficiency requiring immunoglobulin substitution therapy.

[Clinical importance of the IgG4 related disease]. / Klinický význam nemoci spojené s imunoglobuliny IgG4.

IgG4 related disease is a chronic immunopathological disorder, proposed as a new diagnostic entity, and characterized as follows: 1. background is in multiorgan lymphoplasmocellular infiltration associated with presence of large number of polyclonal IgG4+ plasma cells, and fibrosclerosis; 2. structural damage of the affected organs is frequently associated with pseudotumorous enlargement and/or other morphological changes; for example aortitis with aneurysmatic dilatation, sclerosing pancreatitis, retroperitoneal fibrosis ect.; 3. serum concentration of IgG4 is usually significantly elevated; 4. responsivity to glucocorticoids is a hallmark of the disease: in rare cases of glucocorticoid-resistance a response to rituximab was observed. At presence the disease related to IgG4 is considered as a rare disorder. Presented knowledge may be useful for better elucidation of its importance in clinical specialities.

Cardiomyopathy as one of the less frequent manifestations of Takayasu's arteritis.

The authors present the case of a young woman with newly diagnosed Takayasu's arteritis. This woman, with arterial hypertension, was investigated for the unspecific symptoms at the beginning. Afterwards, the transthoracic echocardiography showed dysfunction of the left ventricle and the abdominal sonography showed a stenosis of the right renal artery. PET/CT scan showed chronic modification after inflammatory processes on the wall of the thoracic and abdominal aorta. This case report should be instructive to other clinicians and refers to the necessity to remember this rare disease in our country too.

Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder.

OBJECTIVES: Autism is a severe neurodevelopmental disorder with a high rate of epilepsy and subclinical epileptiform activity. High physical connectivity on a microcolumnar level leading to epileptiform activity and low functional informational connectivity are assumed in autism. The aim of this study was to investigate nonlinear EEG brain dynamics in terms of synchronization in a group of children with autism spectrum disorders compared to a control group. We expected a lower degree of synchronization in autistic subjects. METHODS: The autistic group consisted of 27 patients with autism spectrum disorders diagnosed according to ICD-10. The mean age of the sample was 7.1 (SD 3.6) years, 14 of them were mentally retarded. Normal EEG was found in 9 patients, epileptiform EEG in 18 autistic patients. Four patients had a history of epileptic seizures, fully compensated in long term. The control group consisted of 20 children (mean age of 8.4, SD 2.3 years) with normal intelligence, without an epileptic history, investigated within the frame of the research program for cochlear implantation. They had normal neurological examination and suffered from perceptive deafness. Normal EEG was found in 17 of the control subjects, epileptiform EEG was in 3 control subjects. We analyzed night sleep EEG recordings from 10 channels (F3, F4, F7, F8, C3, C4, T3, T4, P3 and P4) with the inclusion of sleep stages NREM 2, 3 and 4 in the subsequent analyses. Coarse-grained entropy information rates between neighbouring electrodes were computed, expressing the synchronization between 11 selected electrode couples. RESULTS: Synchronization was significantly lower in the autistic group in all three examined NREM stages even when age and intelligence were taken into account as covariates. CONCLUSIONS: The results of the study confirmed the validity of the underconnectivity model in autism.