Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations.

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. AIMS: To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex. METHODS: We performed quantitative manual assessment of tubers visible on T1W, T2W/FLAIR images and DW/ADC maps of 20 patients with TSC. Tubers were classified into types A, B and C based on their signal intensity on MRI. General clinical information and quantitative tuber characteristics were evaluated. Between-group comparisons were made using the nonparametric Mann-Whitney U test with Bonferroni correction. RESULTS: In total, 20 patients with 770 tubers were evaluated. Type A tubers were most numerous followed closely by Type B tubers, whereas Type C tubers were relatively rare. Tuber size was markedly different among the three tuber types: it increased from Type A to Type B to Type C. Infantile spasms, generalized-tonic clonic seizures, poor seizure control, cardiac rhabdomyomas, SEGA and developmental delay were not associated with quantitative tuber characteristics. Increased total Type B tuber load was associated with early onset epilepsy, while individually larger Type A and Type B tubers were associated with the presence angiomyolipoma (AML) and renal cysts. CONCLUSIONS: MRI-defined tuber types differ significantly in their size and number. Larger total Type B tuber load and larger individual Type A and Type B tubers were found to be most associated with early seizure onset and renal angiomyolipomas, respectively. One possible explanation for the observed differences in the clinical phenotype based on MRI-defined tuber types is not the intrinsic qualitative distinctions between different tuber types, but rather their individual size and total tuber load.

Implementation of the Robson classification in clinical practice:Lithuania's experience.

BACKGROUND: To determine the cesarean section (CS) rate in Lithuania, identify the groups of women that influence it using the Robson classification and to determine the impact of implementing the use of the Robson classification on the CS rate. METHODS: The Robson classification was introduced in Lithuanian hospitals prospectively classifying all the deliveries in 2012. The overall CS rate, sizes of the Robson groups of women, CS rate in each group and contribution to the overall CS rate from each group was calculated and the results were discussed. The analysis was repeated in 2014 and the data were compared using MS EXCEL and SPSS 23.0. RESULTS: Nineteen Lithuanian hospitals participated in the study. They represented 84.1% of the deliveries (23,742 out of 28,230) in 2012 and 88.5% of the deliveries (24,653 out of 27,872) in 2014. The CS rate decreased from 26.9% (6379/23,742) in 2012 to 22.7% (5605/24,653) in 2014 (p < 0.001). The greatest contributions to the overall CS rate were made by groups 1, 2 and 5. The greatest decrease in the CS rate was detected in group 2. The absolute contribution to the overall CS rate decreased from 4.9% to 3.8%. CONCLUSION: The Robson classification can work as an audit tool to identify the groups that have the greatest impact on the CS rate. It also helps to develop a strategy focussing on the reduction of the CS rate.

Single vs. multiple fraction regimens for palliative radiotherapy treatment of multiple myeloma : A prospective randomised study.

PURPOSE: To compare the impact of a single fraction (8 Gy × 1 fraction) and multifraction (3 Gy × 10 fractions) radiotherapy regimens on pain relief, recalcification and the quality of life (QoL) in patients with bone destructions due to multiple myeloma (MM). PATIENTS AND METHODS: In all, 101 patients were included in a randomised prospective clinical trial: 58 patients were included in the control arm (3 Gy × 10 fractions) and 43 patients into the experimental arm (8 Gy × 1 fraction). The response rate was defined according to the International Consensus on Palliative Radiotherapy criteria. Recalcification was evaluated with radiographs. QoL questionnaires were completed before and 4 weeks after treatment. RESULTS: Pain relief was obtained in 81/101 patients (80.2%): complete response in 56 (69%) and partial in 25 patients (30.9%). No significant differences were observed in analgesic response between the groups. Significant factors for pain relief were female gender, age under 65, IgG MM type, presence of recalcification at the irradiated site. Recalcification was found in 32/101 patients (33.7%): complete in 17 (53.2%) and partial in 15 (46.2%). No significant differences were observed in recalcification between the groups. Significant factors for recalcification were Karnofsky index ≥ 60%, haemoglobin level ≤ 80 g/dl, MM stage II and analgesic response at the irradiated site. The QoL after radiotherapy was improved in the control group. CONCLUSION: The same analgesic and recalcification response was observed using two different radiotherapy regimens. Higher doses should be used to achieve a better QoL.

The impact of one fraction of 8 Gy radiotherapy in palliative treatment of multiple myeloma patients with painful bone destructions.

BACKGROUND/AIM: Radiotherapy is required to overcome pain and to promote recalcification in multiple myeloma (MM) patients. The aim of our prospective study was to evaluate the impact of one fraction of 8 Gy regimen in palliative treatment of MM. MATERIALS AND METHODS: Forty-six patients with MM and painful bone destructions were treated by 8 Gy single fraction regimen. The visual analog scale was used for evaluation of pain. Analgesic use was measured prior to and after radiotherapy (4, 12, and 24 weeks). Recalcification was evaluated with radiographs before and after radiotherapy at 1 and 3 months. Quality of life questionnaires were completed before and 4 weeks after treatment. RESULTS: Decrease of pain was observed in 78.3% cases: according to the international consensus on palliative radiotherapy criteria, 43.5% were found to be completely and 34.8% partially responsive. Reduction of analgesic use was present in 68.4% and complete cessation in 31.6%. Recalcification was present in 55%: a complete response was observed in 35% and a partial response in 20%. The side effects after treatment were of the first grade and reversible. CONCLUSION: One fraction of 8 Gy regimen is effective in palliative treatment of MM patients with painful bone destructions.

Detection and evaluation of ventricular repolarization alternans: an approach to combined ECG, thoracic impedance, and beat-to-beat heart rate variability analysis.

BACKGROUND AND OBJECTIVE: Beat-to-beat alteration in ventricles repolarization reflected by alternans of amplitude and/or shape of ECG S-T,T segment (TWA) is known as phenomena related with risk of severe arrhythmias leading to sudden cardiac death. Technical difficulties have caused limited its usage in clinical diagnostics. Possibilities to register and analyze multimodal signals reflecting heart activity inspired search for new technical solutions. First objective of this study was to test whether thoracic impedance signal and beat-to-beat heart rate reflect repolarization alternans detected as TWA. The second objective was revelation of multimodal signal features more comprehensively representing the phenomena and increasing its prognostic usefulness. MATERIALS AND METHODS: ECG, and thoracic impedance signal recordings made during 24h follow-up of the patients hospitalized in acute phase of myocardial infarction were used for investigation. Signal morphology variations reflecting estimates were obtained by the principal component analysis-based method. Clinical outcomes of patients (survival and/or rehospitalization in 6 and 12 months) were compared to repolarization alternans and heart rate variability estimates. RESULTS: Repolarization alternans detected as TWA was also reflected in estimates of thoracic impedance signal shape and variation in beat-to-beat heart rate. All these parameters showed correlation with clinical outcomes of patients. The strongest significant correlation showed magnitude of alternans in estimates of thoracic impedance signal shape. CONCLUSIONS: The features of ECG, thoracic impedance signal and beat-to-beat variability of heart rate, give comprehensive estimates of repolarization alternans, which correlate, with clinical outcomes of the patients and we recommend using them to improve diagnostic reliability.

Duffy and kidd genotyping facilitates pretransfusion testing in patients undergoing long-term transfusion therapy.

OBJECTIVE: Conventional serologic typing of red blood cell systems other than ABO and RhD can be inaccurate and difficult to interpret in patients who have recently undergone blood transfusion. While molecular-based assays are not used routinely, the usefulness of genotyping was investigated in order to determine patients who may benefit from this procedure. MATERIALS AND METHODS: Blood samples were taken from 101 patients with haemato-oncological, chronic renal, or gastroenterological diseases and from 50 donor controls; the samples were tested for Fya and Fyb by applying serologic and genetic methods. All patients had received 3 or more units of RBCs during the last 3 months. An average of 6.1 RBC units were transfused per patient. The average length of time from transfusion until blood sampling was 24.4 days. The haemagglutination test was applied for serological analysis, and the restriction length polymorphism assay was used for genotyping. RESULTS: In total, 33 (32.7%) patients showed positive reactions with anti-Fya or anti-Fyb while being negative genetically. False-positive Fya results were found in 23 samples, and false-positive Fyb in 10 specimens. During the last 3 months, significantly more RBC units were transfused to patients with discrepant results than to those with accurate phenotyping/genotyping results: median of 5 (mean ± SE: 6.85±0.69) versus median of 4 (mean: 5.71±0.51), respectively (p=0.025). The median length of time after the last transfusion was 25 days (mean: 28.72±2.23 days) in the group with accurate phenotyping/genotyping results versus a median of 14 days (mean: 15.52±1.95 days) in the group with discrepant results (p=0.001). Phenotypes and genotypes coincided in all donor samples. CONCLUSION: Genotyping assays for the Duffy system should be considered if the patient underwent blood transfusion less than 3 or 4 weeks before the sample collection. If the time frame from RBC transfusion exceeds 6 weeks, Duffy phenotyping can provide accurate results.

Well-being of newly diagnosed women with breast cancer: which factors matter more?

BACKGROUND: The assessment of health-related quality of life (HRQL) in newly diagnosed breast cancer patients is necessary to address predictive factors in supportive clinical practice. PURPOSE: The objectives of this study are to evaluate self-reported HRQL within 1 year after breast cancer diagnosis and to determine important factors associated with self-reported impaired HRQL. METHODS: A cross-sectional study was performed in newly diagnosed breast cancer patients. The statistical analysis included descriptive statistics and stepwise logistic regression modeling. RESULTS: The survey response rate was 67 % (n = 338). Almost 50 % of the studied population was identified as experiencing anxiety. The impaired HRQL domains were emotional functioning and global health status. Severely expressed symptoms included insomnia, fatigue, and financial difficulties. Poor financial situation, comorbidities, unemployment, and lack of psychological counseling were identified as important predictive factors (p < 0.001). CONCLUSIONS: Psychosocial, but not clinical, factors were the prevalent predictive factors in impaired HRQL. Early identification of women that are at risk of poorer HRQL and interventions of psychosocial support following breast cancer diagnosis are recommended.

Survival of women with breast cancer in Kaunas Region, Lithuania.

OBJECTIVE. The assessment of breast cancer survival rates and comparison with those of other countries may help to deepen knowledge among decision makers in the health care system and to improve the inequalities in accessibility to early detection and effective treatment. The aim of this study was to evaluate breast cancer survival rates in Kaunas region, Lithuania, and to compare them with those in the selected European countries. MATERIAL AND METHODS. A retrospective study was carried out using medical records and data gathered from the Lithuanian Cancer Registry. A group of 240 patients with primary breast cancer diagnosed in 2008 in Kaunas region was analyzed. All causes of death were included in the analysis. The closing date of follow-up was September 30, 2010. Survival was determined using the life-table method and the Kaplan-Meier method. Cox proportional hazard models were used to estimate the effects of prognostic risk factors on survival. RESULTS. The median age of the patients was 63 years (range, 28-95). The 1-year and 2-year cumulative survival for breast cancer patients in Kaunas region, Lithuania, was 94.2% and 90.1%, respectively. As expected, the survival of patients with diagnosed advanced disease (stage III and IV) was significantly worse than that of patients with stage I (P<0.001) and II (P=0.003) disease. The screening group (aged 50-69 years) showed better survival in comparison with the group older than 69 years. Age, T4 tumor, and distant metastasis were the prognostic factors significantly associated with an increased relative mortality risk of breast cancer. CONCLUSIONS. Compared to the European survival rates, the 1-year and 2-year survival of patients with breast cancer in Lithuania was found to be similar to most European countries.

Prevalence of activated protein C resistance among women with recurrent miscarriage.

UNLABELLED: Since 1996 activated protein C resistance is closely associated with various obstetric pathologies. The most widely discussed is that of secondary infertility due to recurrent miscarriage. However, there is still widespread discussion about the role of activated protein C resistance in this and other obstetric pathologies. AIM: To investigate whether the activated protein C resistance is a cause of early recurrent miscarriage. MATERIAL AND METHODS: A study was designed as a case-control study. Two study groups were formed. Group I included women who have experienced 2 or more miscarriages (61 patients), and Group II included women who have experienced 3 or more miscarriages (33 patients). We investigated the prevalence and compared it in the control and both study groups. RESULTS: In Group I activated protein C resistance was found for 8 patients (14.7%), in Group II--for 5 patients (16.5%), in the control group--in 4 cases (5%). By comparing different groups the prevalence of activated protein C resistance in Group I was statistically significantly higher than in the control group (p<0.05). The prevalence of activated protein C resistance in Group II and the control group as well as between both study groups was statistically non-significant (p>0.05). CONCLUSION: Activated protein C resistance might be a factor behind spontaneous recurrent miscarriage. There was no statistically significant difference between women who had suffered from 2 or 3 spontaneous abortions.