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Open radical cystectomy (ORC) remains the gold standard for the treatment of muscle-invasive and high-risk non-muscle invasive bladder cancer unsuitable for bladder preservation techniques. Despite improvements in operative technique and perioperative care, it continues to be associated with significant complications. We analyzed our series of prospectively collected data of patients who underwent ORC at a tertiary referral academic center and evaluated early and late postoperative complications and mortality. The records of 391 ORCs with ileal diversion performed at our institution between January 2008 and July 2018 for non-metastatic transitional bladder carcinoma and other distinct pathological types were analyzed. Perioperative mortality was determined and 30-day and 90-day complications were reported according to the Martin Criteria and the European Association of Urology and graded according to the five-grade Clavien-Dindo classification. Univariate and multivariate analyses were used to evaluate predictors of complications and mortality. Gastrointestinal and infectious complications represented 41% and 43% of the total complications observed at 30 and 90 days after the surgery, respectively. The strongest predictor of infectious complications was the choice of ileal neobladder as the urinary diversion (p≤0.0001). Diabetes was a predictor of the overall, major and major infectious complications (p

OBJECTIVES Hyperechogenicity of the substantia nigra (SN) and abnormal dopamine transporter-single-photon emission computed tomography (DAT-SPECT) are biomarkers commonly used in the assessment of prodromal synucleinopathy. Our goals were as follows: (1) to compare echogenicity of SN in idiopathic rapid eye movement (REM) behavior disorder (iRBD), Parkinson's disease (PD) without RBD (PD-noRBD), PD with RBD (PD + RBD), and control subjects; and (2) to examine association between SN degeneration assessed by DAT-SPECT and SN echogenicity. PATIENTS/METHODS A total of 61 subjects with confirmed iRBD were examined using Movement Disorders Society-unified PD rating scale (MDS-UPDRS), TCS (transcranial sonography) and DAT-SPECT. The results were compared with 44 patients with PD (25% PD + RBD) and with 120 age-matched healthy subjects. RESULTS AND CONCLUSION The abnormal SN area was found in 75.5% PD, 23% iRBD and 7.3% controls. Median SN echogenicity area in PD (0.27 ± 0.22 cm2) was higher compared to iRBD (0.07 ± 0.07 cm2; p

Neuromelanin (NM) is a black pigment located in the brain in substantia nigra pars compacta (SN) and locus coeruleus. Its loss is directly connected to the loss of nerve cells in this part of the brain, which plays a role in Parkinson’s Disease. Magnetic resonance imaging (MRI) is an ideal tool to monitor the amount of NM in the brain in vivo. The aim of the study was the development of tools and methodology for the quantification of NM in a special neuromelanin-sensitive MRI images. The first approach was done by creating regions of interest, corresponding to the anatomical position of SN based on an anatomical atlas and determining signal intensity threshold. By linking the anatomical and signal intensity information, we were able to segment the SN. As a second approach, the neural network U-Net was used for the segmentation of SN. Subsequently, the volume characterizing the amount of NM in the SN region was calculated. To verify the method and the assumptions, data available from various patient groups were correlated. The main benefit of this approach is the observer-independency of quantification and facilitation of the image processing process and subsequent quantification compared to the manual approach. It is ideal for automatic processing many image sets in one batch.

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. Gradually, he developed dysarthria, spastic-dystonic gait, pedes cavi, and atrophy of leg muscles. Additionally, we report demographic parameters, clinical signs, and allelic frequencies of C19orf12 mutations of all published MPAN cases. We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes.

Objectives: Executive dysfunction is a common feature in Parkinson’s disease (PD). However, there is a lack of brief validated instruments for executive dysfunction in PD. Methods: The aim of the present study was to assess the relation of Frontal Assessment Battery (FAB) scores to age and education, to verify the utility of FAB in the evaluation of executive dysfunction in PD and to differentiate between controls (n=41), PD patients with normal cognition (PD-NC; n=41; Hoehn and Yahr stages 2–3) and PD with mild cognitive impairment (PD-MCI; n=32; Hoehn and Yahr stages 2–3). In addition, we studied the relation between voxel-based morphometric (VBM) data and FAB results in PD. Results: We found that FAB scores are significantly related to age and education. The FAB has shown discriminative validity for the differentiation of PD-MCI from PD-NC and controls (area under the curve >.80). Also, the VBM analysis revealed lower FAB scores are specifically related to lower gray matter density in the right ventromedial prefrontal areas and precuneus. Conclusions: The FAB can be recommended as a valid instrument for PD-MCI Level I screening. FAB is sensitive to frontal lobe involvement in PD as reflected by lower gray matter density in prefrontal areas. (JINS, 2017, 23, 675–684)

Study Objectives Rapid eye movement (REM) sleep without atonia (RWA) is the main polysomnographic feature of idiopathic REM sleep behavior disorder (iRBD) and is considered to be a promising biomarker predicting conversion to manifested synucleinopathy. Besides conventionally evaluated tonic, phasic and any RWA, we took into consideration also periods, when phasic and tonic RWA appeared simultaneously and we called this activity “mixed RWA.” The study aimed to evaluate different types of RWA, to reveal the most relevant biomarker to the conversion. Methods A total of 55 patients with confirmed iRBD were recruited with mean follow-up duration 2.3 ± 0.7 years. Scoring of RWA was based on Sleep Innsbruck Barcelona rules. Positive phenocoversion was ascertained according to standard diagnostic criteria during follow-up. Receiver operator characteristic analysis was applied to evaluate predictive performance of different RWA types. Results A total of nine patients (16%) developed neurodegenerative diseases. Yearly phenoconversion rate was 5.5%. Significantly higher amounts of mixed (p = 0.009), tonic (p = 0.020), and any RWA (p = 0.049) were found in converters. Optimal cutoffs differentiating the prediction were 16.4% (sensitivity 88.9; specificity 69.6) for tonic, 4.4% (sensitivity 88.9; specificity 60.9) for mixed, and 36.8% (sensitivity 77.8; specificity 65.2) for any RWA. With area under the curve (AUC) 0.778, mixed RWA has proven to be the best predictive test followed by tonic (AUC 0.749) and any (AUC 0.710). Conclusions Mixed, tonic and any RWA may serve as biomarkers predicting the conversion into neurodegenerative disease in iRBD. The best predictive value lies within mixed RWA, thus it should be considered as standard biomarker.

Fragmentary myoclonus is a result of muscle activity consisting of brief potentials in surface electromyography during polysomnography. Excessive fragmentary myoclonus is defined by increased intensity of the potentials. A few studies report excessive fragmentary myoclonus occurrence in neurodegenerative diseases. Because idiopathic rapid eye movement sleep behaviour disorder is considered as an early stage of neurodegeneration with involvement of the brainstem, we charted the prevalence and quantified the intensity of excessive fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder. Twenty-nine patients (one woman, 28 men, mean age 68 years, SD 6.2) and 29 controls (two women, 27 men, mean age 65.6 years, SD 8.6) underwent polysomnography. Fragmentary myoclonus potentials were identified and counted according to internationally used criteria. Fragmentary myoclonus intensity was quantified by the fragmentary myoclonus index. Excessive fragmentary myoclonus was diagnosed in 75.9% (22 subjects) in idiopathic rapid eye movement sleep behaviour disorder, while in 34.5% (10 subjects) among the controls (p = 0.003). Quantitative analysis showed a wide-range fragmentary myoclonus index in idiopathic rapid eye movement sleep behaviour disorder (4.0-632.4; median 60.7) and in the controls (0.8-938.1; median 34.3). The overall difference in fragmentary myoclonus index was not significant between the groups; however, patients with idiopathic rapid eye movement sleep behaviour disorder showed trends for higher fragmentary myoclonus index scores in wakefulness (p = 0.027), N1 (p = 0.032), N3 (p = 0.046) and R (p = 0.007). Fragmentary myoclonus index does not correlate with age, idiopathic rapid eye movement sleep behaviour disorder duration or R stage atonia deficiency. The prevalence of excessive fragmentary myoclonus is higher in idiopathic rapid eye movement sleep behaviour disorder compared with the controls, so fragmentary myoclonus should be taken into account in future research of rapid eye movement sleep behaviour disorder and motor control in sleep.

Unintended weight loss is a negative prognostic factor in Huntington’s disease (HD). Exact mechanism of weight loss and influence of therapeutic intervention on this symptom is still unclear. In Prague centre Registry database containing 309 examinations of patients (age 50.3±13.4 years, disease duration 9.13±3.51 years, number of CAG repeats from 40 to 70) were analysed. Correlation analysis was performed between body mass index (BMI) and Unified Huntington’s Disease Rating Scale – motor subscores (voluntary, oculomotor, chorea, dystonia, rigidity) and functional scales were used. None of the Pearson’s correlation were significant. Our results may indicate that BMI may be independent parameter in this particular stage of the disease course. Of the database, 154 examinations were on risperidone and 155 were without risperidone therapy. Age, CAG repeats and disease duration did not differ between the two groups (p=0.1, p=0.9, p=0.26 respectively). Patients on risperidone therapy had significantly higher weight (Mann-Whitney U-test, p In subsequent analysis, 49 events on tiapride therapy and 260 events off tiapride therapy were compared, weight in those two groups did not differ. A longitudinal study must be performed to prove the causality of risperidone effect on weight in HD.

Alterations in mitochondrial parameteres are an important hallmark of Huntington’s disease (HD). Given the ubiquitous expression of mutant huntingtin raises the prospect that mitochondrial disturbancies can be detected and monitored also in buccal epithelial cells. In a group of 34 patients with Huntington’s disease and a group of 22 age-related healthy volunteers, respiratory complex I and IV protein quantities in buccal epithelial cells were measured using dipstick immunocapture assay. The protein quantity of respiratory complex I is correlated with age (r=0.427, p=0.026, FWE-p=0.156) in the patient group, but not in the group of healthy subjects. Our non-invasive approach allows to obtain valuable materials for studies on mitochondrial biochemical parameters in patients with neurodegenerative diseases and could be be useful in epidemiological studies.

Background Huntington’s disease (HD) is a neurodegenerative disorder with dominant motor and neuropsychiatric symptoms. A few studies found that visual symptoms may also be affected in HD. Aims To assess the structural changes in retina by spectral domain optical coherence tomography (OCT). Methods 21 patients with genetically verified HD were included in the study (11 males and 10 females, CAG triplet repeats 44.5±2.6 [mean ±standard deviation], age 50.2±10.10.8 years [mean ±standard deviation], disease duration 5.9±3.8 years [mean ±standard deviation]). All patients were assessed by Unified Huntington’s disease Rating Scale (UHDRS). Ophtalmological examination included visual acuity (100% contrast), intraocular pressure measurement and fundus examination. Spectral domain OCT was performed to evaluate the peripapillary retinal nerve fiber layer (RNFL) thickness in nasal-superior (NS), nasal (N), nasal-inferior (NI), temporal-inferior (TI), temporal (T), temporal-superior (TS) sectors and with nasal-temporal ratio (N/T) and with papillo-macular bundle. Results Peripapillary RNFL thickness measurements were performed in 33 eyes of 21 patients. Age, disease duration, the number of CAG triplet repeats, UHDRS total motor score (TMS) and UHDRS total functional capacity (TFC) were tested for a relationship with global RNFL thickness (G) and with RNFL thickness in NS, N, NI, TI, T, TS sectors, N/T ratio and with papillo-macular bundle using a Pearson’s r coefficient. Correlations of NS and N/T with disease duration and T with UHDRS TFC and UHDRS TMS were found to be significant. However, no correlation did pass the Bonferroni correction for multiple comparison. Conclusions We found significant correlations between RNFL thickness in NS and N/T with disease length and between RNFL thickness in T with UHDRS TFC and UHDRS TMS. Patients with HD with longer disease duration had thinner RNFL thickness in NS and N/T. Patients with lower TFC and higher TMS had thinner RNFL thickness in T. Nevertheless, in case of using the Bonferroni correction for multiple comparison, we found no correlation.

The potentional benefit of symptomatic treatment of motor impairment in Huntington´s disease (HD) is still discussed. The aim of this study was to find out the effect of medication at different stages of this disease, In our Registry database containing 309 examinations of patients (aged 50.3±13.4 years, disease duration 9.13±3.51 years, CAG ranging from 40 to 70 repeats) was analysed usage of different drugs in comparison. To objectify performance of patients, Unified Huntington´s Disease Rating Scale – total motor score, motor scale subscores (voluntary, occulomotor, chorea, dystonia, rigidity), Total Functional Capacity and Functional Assessment were used. Risperidone was the most used medication with 154 assessements with this treatment and 155 without. Other preparates with the strongest representation were amantadine (97:212 events), clonazepam (56:253), tiapride (49:260), tetrabenazine (13:296) and haloperidol (11:298). Statistically (Mann-Whitney U-test) were compared patients with and without particular medical treatement, with only significant results in patients with clonazepam therapy, who had only significantly higher voluntary motor subscore (p Although a longitudinal study should be performed to prove causality of clonazepam, caution should be used when prescribing clonazepam in HD.

Objective Pain, fatigue, cognitive complaints and psychiatric comorbidities are common in patients with functional movement disorder and may significantly affect their quality of life. The aim of the study was to assess the impact of motor and non-motor symptoms on health-related quality of life in patients with functional movement disorder. Methods Sixty-one patients with clinically established functional movement disorder and 61 matched healthy controls completed standardized questionnaires for depression, anxiety, cognitive complaints, fatigue, pain, sleepiness, apathy and health-related quality of life. Motor disorder severity was assessed using The Simplified Functional Movement Disorders Rating Scale. Personality traits were assessed using the 44-Item Big Five Inventory. Results Compared to controls, patients reported significantly lower health-related quality of life and higher levels of all assessed non-motor symptoms except for apathy. No difference was found in personality traits. In both groups, health-related quality of life scores negatively correlated with depression, anxiety, pain, cognitive complaints, apathy, and neuroticism. No correlation was found between health-related quality of life and motor symptom severity in patients with functional movement disorder. Multiple regression analysis of the predictors of health-related quality of life showed significant impact of trait anxiety and cognitive complaints scores. Conclusions Multiple non-motor symptoms but not motor symptom severity correlated with impaired health-related quality of life in patients with functional movement disorder. Impaired health-related quality of life was predicted by anxiety and cognitive complaints. Our results highlight the importance of assessing and treating both motor and non-motor symptoms in patients with functional movement disorder.

The aim of the present study was to investigate if prospective memory (PM) is impaired in idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD). RBD is a parasomnia characterized by dream enactment and by REM sleep without muscle atonia. iRBD is considered as the initial stage of neurodegeneration with pathological storage of alpha-synuclein.Sixty iRBD patients with polysomnography-confirmed RBD without parkinsonism and dementia and 30 demographically matched normal controls (NC) were enrolled in the present study. Clinical assessment included Movement Disorders Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), dopamine transporter single-photon emission computed tomography (DaT-SPECT) for imaging synapses of dopaminergic neurons in the striatum and a neuropsychological battery with embedded time-based and event-based PM measures.iRBD differed significantly from NC in event-based PM, a number of event-based failures to recall intention and total PM performance (all p .001) but did not differ in time-based PM and recognition. PM did not contribute to impairment of instrumental activities of daily living in iRBD. Despite being preserved in iRBD in comparison to NC, time-based PM correlated significantly with dopaminergic neuronal loss measured by DaT-SPECT.We show evidence for a differential pattern of PM impairment in iRBD with severe impairment of event-based and concurrent preservation of time-based PM. We theorize that event-based PM impairment in iRBD is caused by severe impairment of retention and recognition mechanisms in episodic memory whereas time-based PM seems to be affected by reduced striatal dopaminergic synapses.

BACKGROUND The aim of the study was to evaluate the diagnostic efficiency of cathepsins B (cathepsin B and procathepsin B) in patients with transient cell carcinoma of the urinary bladder. METHODS Serum and urine concentrations of cathepsin B and procathepsin B were measured by two commercially available enzymatic immunoassays in a group of 125 patients with bladder cell carcinoma without metastases and in a group of 72 healthy individuals. Concentrations in urine were adjusted to creatinine. RESULTS Concentrations of both cathepsin B and procathepsin B in serum and urine were significantly elevated in patients with bladder cell carcinoma (p < 0.0001 for U-procathepsin B, U-procathepsin B/creatinine, and U-cathepsin B/creatinine, p = 0.0001 for U-cathepsin B, p = 0.0002 for S-procathepsin B and p = 0.02 for S-cathepsin B). Comparison of all diagnostic efficiencies of cathepsin B and procathepsin B in serum and in urine showed the best diagnostic accuracy for procathepsin B in urine (AUC = 0.81 vs. 0.50). The ratio of U-procathepsin B/creatinine was also more efficient than the ratio of U-cathepsin B/creatinine (AUC = 0.81 vs. AUC = 0.70). The diagnostic efficiencies of both parameters in serum were low (S-procathepsin B: AUC = 0.50, S-cathepsin B: AUC = 0.60). U-procathepsin B and U-procathepsin B/creatinine ratio show significantly better diagnostic efficiency in patients with invasive bladder tumors than other parameters (S-procathepsin B, S-cathepsin B, U-cathepsin B and U-Cathepsin B/creatinine; U-procathepsin B: AUC = 0.82, U-procathepsin B/creatinine: AUC = 0.86, S-procathepsin B and cathepsin B: AUC = 0.51 - 0.68). CONCLUSIONS Procathepsin B concentration in urine is a valuable diagnostic marker in patients with bladder cell carcinoma.

Contemporary tools estimating increased risk of prostate cancer (PCa) relapse after radical prostatectomy (RP) are far from perfect and there has been an intensive search for additional predictive variables. We aimed to explore whether the parameters of postoperative ultrasensitive prostate-specific antigen (PSA) decline provide additional information for predicting PCa progression.A total of 319 consecutive men, with at least 2 years of follow-up after RP for clinically localized PCa were subjected to this study. Intensive postoperative measurements of ultrasensitive PSA resulted in total of 4028 PSA values available for statistical evaluation. Biochemical recurrence (BCR) was defined as PSA ≥0.2 ng/ml. The accuracy of predictive models was quantified with the area under the curve.Over a median follow-up of 43 months (24-99 months), 107 patients (34%) experienced BCR after RP. In patients with BCR, significantly higher values of PSA nadir (p0.001) and a decreased time interval from surgery to reach PSA nadir (p0.001) were observed. A multivariable Cox regression model confirmed that PSA nadir0.01 ng/ml (HR 6.01, 95% CI: 3.89-9.52) and time to PSA nadir3 months (HR 2.86, 95% CI: 1.74-5.01) were independent predictors of BCR. The inclusion of PSA nadir and the time to PSA nadir into the model resulted in improvement of predictive accuracy by 16% over the model designed on the basis of established parameters.Our results demonstrate that the level of PSA nadir and the time to PSA nadir determined by ultrasensitive assay significantly improve the identification of patients who are at high risk of disease recurrence after RP.

Background: It has been shown that expression and activity of lysosomal proteolytic enzymes (i.e., cathepsin B) correlate with tumor progression in various neoplasms. We investigate possible correlation of cathepsin B concentrations with grading and invasivity of tumorous bladder tissue. Method: Cathepsin B concentrations in serum and urine were measured in 40 patients (29 men, 11 women, mean age 68 years) with transitional cell carcinoma (TCC) of the bladder without metastases and in control group of 64 healthy subjects (28 men, 36 women, mean age 55 years) using commercially available enzymatic immunoassay. Concentration of cathepsin B in urine was adjusted on creatinine. Urinary creatinine in all samples was measured by enzymatic creatinase method. Patients were divided into groups according to the grading (low grading: 18 patients

Wilms tumor gene 1 (WT1), a zinc-finger transcription factor essential for testis development and function, along with other genes, was investigated for their role in the pathogenesis of testicular germ cell tumors (TGCT).In total, 284 TGCT and 100 control samples were investigated, including qPCR for WT1 expression and BRAF mutation, p53 immunohistochemistry detection, and massively parallel amplicon sequencing.WT1 was significantly (p 0.0001) under-expressed in TGCT, with an increased ratio of exon 5-lacking isoforms, reaching low levels in chemo-naïve relapsed TGCT patients vs. high levels in chemotherapy-pretreated relapsed patients. BRAF V600E mutation was identified in 1% of patients only. p53 protein was lowly expressed in TGCT metastases compared to the matched primary tumors. Of 9 selected TGCT-linked genes, RAS/BRAF and WT1 mutations were frequent while significant TP53 and KIT variants were not detected (p = 0.0003).WT1 has been identified as a novel factor involved in TGCT pathogenesis, with a potential prognostic impact. Distinct biologic nature of the two types of relapses occurring in TGCT has been demonstrated. Differential mutation rate of the key TGCT-related genes has been documented.

Background It is well recognized that the presence of positive surgical margins (PSM) after radical prostatectomy (RP) adversely affects cancer specific outcomes and recent evidence from randomized trials supports the use of adjuvant radiotherapy in these cases. However, not all of the patients with PSM develop disease recurrence and the policy of adjuvant radiation could result in considerable over-treatment. We investigated the ability of early postoperative prostate specific antigen (PSA) and PSA decline rates to stratify the risk of disease progression during the first weeks after the surgery thereby allowing adequate time for planning eventual adjuvant therapy. Methods We studied 116 consecutive patients with the finding of PSM after RP for localized prostate cancer between 2001 and 2012. No patients were treated with radiation or hormonal therapy. An intensive postoperative PSA monitoring using ultrasensitive assay started first at day 14 after the surgery, then at day 30, 60, 90 and 180, and subsequently in 3 monthly intervals. Biochemical recurrence (BCR) presented the failure of surgical treatment and it was defined as PSA ≥0.2 ng/ml. The ability of PSA decline parameters to predict BCR was assessed using Cox regression model and area under the curve (AUC) calculation. Results Overall 55 (47%) patients experienced BCR during median follow-up of 31.4 months (range 6–69). Preoperative PSA, pathologic Gleason sum and pathologic grade failed to reveal any association with observation of BCR. Postoperative PSA levels achieved significant predictive accuracy already on day 30 (AUC 0.74). PSA >0.073 ng/ml at day 30 increased significantly the risk of BCR (HR 4.35, p

Objectives Considering the functional organization of the subthalamic nucleus (STN), we hypothesized that STN-DBS might have a differential impact on emotional reactivity in relation to the electrode position within the STN. We aimed to assess this objectively using affective modulation of the acoustic blink reflex (ABR). Methods ABR elicited during the viewing of rewarding, fearful and neutral pictures was recorded in 10 off-medicated PD patients with the STN-DBS switched ON and OFF. The active electrode contact positions in the STN were determined on T1-weighted MRI. The relation of ABR magnitude on DBS electrode position was assessed using linear regression. Results The ABR magnitude from all picture categories was related to the electrode position in both the ON (p Conclusions The STN-DBS probably drove the electrode-position related effect on emotional activation along the anterio-posterior direction. This effect, however, was not stimulus category specific suggesting rather general increase in emotional arousal. Key message Emotional reactivity changes due to DBS showed anterio-posterior gradient within the STN.

BACKGROUND: It has been shown that expression and activity of lysosomal proteolytic enzymes (i.e., cathepsin B) correlate with tumor progression in various neoplasms. We investigate possible correlation of cathepsin B concentrations with grading and invasivity of tumorous bladder tissue. METHOD: Cathepsin B concentrations in serum and urine were measured in 40 patients (29 men, 11 women, mean age 68 years) with transitional cell carcinoma (TCC) of the bladder without metastases and in control group of 64 healthy subjects (28 men, 36 women, mean age 55 years) using commercially available enzymatic immunoassay. Concentration of cathepsin B in urine was adjusted on creatinine. Urinary creatinine in all samples was measured by enzymatic creatinase method. Patients were divided into groups according to the grading (low grading: 18 patients, high grading: 22 patients) and invasivity of the carcinoma (nonmuscle‐invasive tumors: 23 patients, invasive tumors: 17 patients). RESULT: Concentrations of cathepsin B in urine were significantly elevated in patients than in control group (Median = 3.87 μg/L vs. 1.35 μg/L, P = 0.0002). Similarly, the ratio of U‐cathepsin B/creatinine was significantly higher in patients (Median: 0.44 μg/mmol creatinine vs. 0.17 μg/mmol creatinine, P < 0.0001). U‐cathepsin B may prove to be useful biomarker (area under the curve [AUC] = 0.72 and 0.73 for the U‐cathepsin B/creatinine ratio, respectively). S‐cathepsin B significantly correlated with grading of carcinoma (P = 0.02) and U‐cathepsin B and U‐cathepsin B/creatinine are positively associated with invasive tumors (P = 0.0001 and P = 0.002). CONCLUSION: Cathepsin B concentrations correlate well with grading and invasivity of tumors and may have diagnostic value in investigation of bladder cell carcinoma. New index U‐cathepsin B/Creatinine ratio is more appropriate biomarker to monitor TCC, than U‐cathepsin B so far.

4534 Background: Wilms’ tumor gene 1 (WT1) is a transcription factor essential for normal development of the urogenital system and male gonadal formation. Its alterations have been found in Wilms’ ...

Introduction Narcolepsy with cataplexy (NC) is a sporadic neurological disease with prevalence 0.02–0.067% and it is caused by the loss of hypocretin neurons in lateral hypothalamus. NC is associated with HLA DQB1*06:02 allele. Parkinson‘s disease (PD) is a degenerative disorder manifested by hypokinetic-rigid syndrome, caused by degeneration of dopamine-producing cells in the substantia nigra pars compacta. The prevalence of PD is 0.1–0.2%. In addition to cardinal motor symptoms (akinesia, rigidity, tremor and postural instability), autonomic and sensory disturbances as well as cognitive, behavioral and sleep problems can occur during the disease progression. Materials and methods This is a case report presentation. Results An 86-year-old Caucasian woman suffering from NC was diagnosed at our department in 1980s. Daytime polysomnography (PSG) was performed, demonstrating typical SOREMPs. The patient was treated by phenmetrazin and imipramin or clomipramin. In 1995 the patient was retired and her narcoleptic symptoms became less prominent. The patient stopped the therapy and dropped out from the contact with our department. Hypokinetic-rigid syndrome with symmetric rigidity and akinesia in upper extremities and mild gait difficulty with instability was diagnosed when the patient was 83 year old. Patient’s symptoms stabilized after pramipexol 0.7 mg bid initiation. At the age of 85, the patient reported disturbing hypersomnia and frequent falls, which led to reevaluation in our department. Patient reported frequent daytime sleep attacks with variable duration. The sleepiness was present in rest as well as during social activities. The falls, mostly backwards were not caused by emotions nor associated with decreased muscle tone. Sometimes these were preceded by lightheadedness and pre-syncopal syndromes, but mostly were related to gait instability. Patient did not report hypnagogic hallucinations or sleep paralysis. Night PSG revealed frequent PLMS, severe sleep apnea (AHI 43), MSLT confirmed narcolepsy (short sleep latency and 2 SOREMPs), HLA typing showed haplotype HLA DQB1*06:02. Clinical examination showed typical parkinson’s syndrome (motor subscale of UPDRS 28) with good response to dopaminergic treatment and the diagnosis of idiopathic PD was established. Conclusion We report this case because the co-occurrence of NC and PD is very rare according to the literature. Acknowledgement IGA MZ ER: NT 13238–4/2012.