Helena Šarac

Platelet serotonin in primary Sjögren's syndrome: Level and relation with disease activity

Primary Sjögrens syndrome (pSS) is chronic autoimmune disorder of unknown ethiopathogenesis. In line with the concept of neuroimmunohormonal dysregulation in inflammatory rheumatic diseases, the aim of this study was to investigate platelet serotonin level (PSL) in patients with pSS and its relation with the activity and duration of the disease. Significantly lower PSL in pSS patients (N=61) was shown as compared to healthy controls (N=103). No correlation was found between PSL and the actual disease activity assessed by the recently developed EULAR Sjögrens Syndrome Disease Activity Index (ESSDAI). Results suggest involvement of the serotonin system in the pathogenesis of pSS.

Primary total hip arthroplasty: health related quality of life outcomes.

PurposeThe health related quality of life (HRQoL) outcomes of total hip arthroplasty (THA) present a pertinent and clinically important problem in modern orthopaedics. Our goal was to report and compare the health-related outcomes after THA in respect to type of fixation in patients with hip osteoarthritis (H-OA) one year after operation.MethodsA total of 145 patients with H-OA who received THA were evaluated. Uncemented and cemented subjects were evaluated using generic measures, i.e. the EQ-5D questionnaire, and the disease-specific measures designed by the authors, i.e. the Total Hip Arthroplasty Questionnaire (THAQ). Obtained data was statistically processed at the level of pain, functionality and general health perception. Patient-reported outcomes were measured differences between pre-operative measures and those at one-year follow-up visit.ResultsSignificant improvement in health outcomes was reached in both groups regardless of the type of fixation (p < 0.001). Uncemented fixation exhibited better results for EQ-5DINDEX, pain (p = 0.004) and self-care on EQ-5D (p = 0.043), as well as increased magnitude of change for functionality on THAQ (p = 0.002). However, additional analysis of the subset did not reveal a significant difference between cemented vs. uncemented groups with regard to function on THAQ, but the significant difference on self-care and pain dimensions of EQ-5D remained.ConclusionsUncemented endoprosthesis generally achieved better short-term outcomes in some dimensions. However, painless mobility has been restored in most of the patients, regardless of the fixation type. Both methods reached good clinical outcomes in their respective domains; therefore, we would emphasise prevention of osteoarthritis and the quality of care as the more important predictors of good clinical outcomes.

CSF tau proteins in differential diagnosis of dementia

Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD) represent an important differential diagnostic problem in clinical practice. The identification for new biomarkers that would help establishing the diagnosis and primary cause of the dementia is therefore highly relevant. The aim of this study was to investigate the diagnostic accuracy of three potential CSF biomarkers, total tau protein (t-tau), tau protein phosphorylated at threonine 181 (p-tau181), and tau protein phosphorylated at serine 199 (p-tau199) in the differential diagnosis of AD and FTLD patients in relatively young age groups. The concentrations of the three CSF biomarkers were measured in 25 FTLD patients, 27 AD patients, and 25 non-demented (ND) subjects. The CSF concentrations of all three markers were significantly higher in AD than in FTLD cases (p < 0.001) or ND controls (p < 0.001). No difference was observed in FTLD compared to the ND group, except for p-tau181 (p = 0.028). When sensitivity was set at 85% or higher, specificity in differentiation between FTLD and AD patients reached 40% for t-tau, 37.5% for p-tau181 and 56% for p-tau199. Improvement of the diagnostic accuracy upon logistic regression analysis with t-tau and p-tau199 as independent variables showed that 22 out of 25 FTLD patients could be correctly classified. In conclusion, none of the markers per se fulfilled the criteria for the „ideal“ marker (sensitivity and specificity higher than 85%). However, combination of t-tau and p-tau199 classified correctly 88% of FTLD patients, thus largely satisfying practical requirements.

Serotonin transporter gene polymorphisms: Relation with platelet serotonin level in patients with primary Sjogren's syndrome

Significantly lower platelet serotonin level (PSL) in patients with primary Sjogrens syndrome (pSS) than in healthy controls has been reported in our prior studies. In the present report, we demonstrated effect of functional polymorphisms in the serotonin transporter gene (5-HTT) on PSL. We describe a group of 61 pSS patients and 100 healthy individuals subjects, who received PSL measurement in our prior study. All subjects were genotyped for the promoter 5-HTTLPR (L/S), rs25531 (A/G) and intronic 5-HTTVNTRin2 (l/s) polymorphisms. Overall, the presence of 5-HTTVNTRin2 ss genotype was associated with significantly lower PSL in pSS patients, not in healthy controls. Reduced PSL in pSS patients is in line with hypothesis of association between chronic immunoinflammation and 5-HT system dysregulation, identifying additional mechanisms such as altered 5-HT transport as potential genetic factor contributing to PSL depletion.

Giant cavernoma of the skull and skeletal-extraskeletal angiomatosis associated with paraproteinemia

Skeletal-extraskeletal angiomatosis is defined as a benign vascular proliferation affecting the medullar cavity of the bone and at least one other type of tissue, including skin, subcutaneous tissue, viscera, muscle, or synovium, and which does not spread to avascular tissue such as cartilage. Primary hemangiomas/cavernous hemangiomas (cavernomas) are exceedingly rare in the skull, accounting for 0.2% of all osseous neoplasms and are usually located in frontal and parietal bones. The authors present the case of a 66-year-old man who was admitted with right-side hemiparesis. MRI revealed a destructive bone lesion of the left frontal bone. Digital subtraction angiography of the brain did not reveal pathological vascularization, but a minor submucous hemangioma was seen in the nasal airway. Urine test for Bence-Jones proteins was positive for IgG λ light chain. Bone marrow aspiration and CSF analysis revealed no evidence of systemic myelomatosis suggesting a monoclonal gammopathy of undetermined significance. A highly vascular tumor was surgically removed. The histopathology verified cavernous hemangioma of the skull and the nasal submucous hemangioma. We discuss the diagnostic procedure, possible pathophysiological mechanisms and treatment implementation. It is possible that immunoglobulins from monoclonal gammopathies have an etiologic role in the development of the bone and skin changes in older patients, as an acquired condition, by producing a vascular injury that could lead to the multiple hemangiomas in skeletal-extraskeletal angiomatosis. To prevent misdiagnosis with lesions of other origins, multiple lesions of the head must be resected and histopathologically verified. In conclusion, to the best of our knowledge, this is the first case of giant cavernous hemangioma of the skull associated with paraproteinemia and skeletalextraskeletal angiomatosis limited to the head.