AIMS: Metamorphopsia is important symptom of macular disease. The most common simple detection method of metamorphopsia is Amsler grid. Usually it is used monocularly with best correction for near. Patient should evaluate grid deformation a describe position of the deformity. This method is based on qualitative principle. For quantitative evaluation we can use Software D Chart (Thomson Software Solution). This instrument enables evaluate degree and position of the metamorphopsia in central visual field. Our goal was to establish M-score values in group of young healthy subjects without correction (M-score natural), with cylindrical spectacle lens (M-score SL) and in group of patients with age related degeneration (M-score ARMD). OBJECTS AND METHODS: We had 33 probands divided into 2 samples. The first sample contains 15 young probands with average age 23 years without any eye pathology. The second sample contains 18 patients with ARMD (7 with dry form and 11 with wet form). In our study we used software D Chart (Thomson Software Solution). This software was use in Acer PC with touchable screen. We note total M-score in right eye of all probands. Level for statistic evaluation was set on p = 0.05. RESULTS: Natural M-score values for young probands was: median 0, minimum 0, maximum 2.3. With cylindrical lens we got these values: median 25.2, minimum 3.6, maximum 41.6. In second sample with probands suffer from ARMD we got these values: median 0.8, minimum 0, maximum 29.4. Wilcoxon non-parametric test was used for statistical evaluation. We proved statistically significant difference between all variables. M-score natural vs. M-score SL showed p < 0.001, M-score natural vs. M-score ARMD showed p = 0.04 and M-score SL vs. M-score ARMD showed p < 0.001. CONCLUSION: Our study showed statistically significant differences between variable M-score natural, M-score SL and M-score ARMD. We found that printed Amsler grid as well as its digital modification D Chart are suitable for determining metamorphopsia in central visual field. The main advantage of D Chart is quantitative evaluation of the test with M-score and digital registration of retinal changes during patient´s follow up.

• Klíčová slova
• ARMD, Amsler grid, D Chart, M-score, cylinder, spectacle correction,
• MeSH
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• oftalmologie * MeSH
• optometrie * MeSH
• poruchy zraku diagnóza   MeSH
• testy zrakového pole MeSH
• zraková ostrost MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease progression. We report the characteristics and factors related to disease progression, and analyze the effect of miglustat treatment on disease progression and patient survival using NP-C disability scales. METHODS: This retrospective, observational chart review included patients with NP-C from five expert NP-C centers. Patient disability scores were recorded using three published NP-C disability scales, and a unified disability scale was developed to allow comparison of data from each scale. Disease progression was represented by scores on the unified NP-C disability scale. Patients were stratified as infantile (< 4 years), juvenile (≥ 4 - < 16 years), and adult (≥ 16 years) based on age at diagnosis, and treated ≥1 year and non-treated/treated < 1 year based on the duration of miglustat treatment. RESULTS: The analysis included 63 patients; the majority (61.9%) were on miglustat therapy for ≥1 year. Ataxia and clumsiness/frequent fall were the most common neurologic symptoms across age groups, whereas, hypotonia and delayed developmental milestones were specific to infantile patients. In both infantile and juvenile patients, visceral signs preceded diagnosis and neurologic signs were noted at or shortly after diagnosis. Adult patients presented with a range of visceral, neurologic, and psychiatric signs in years preceding diagnosis. Patients on miglustat therapy for ≥1 year had a lower mean annual disease progression compared with those untreated/treated < 1 year (1.32 vs 3.54 points/year). A significant reduction in annual disease progression in infantile patients, and a trend towards reduced disease progression in juvenile patients after ≥1 year of miglustat treatment, translated into higher age at last contact or death in these groups. CONCLUSIONS: The type and onset of symptoms varied across age groups and were consistent with descriptions of NP-C within the literature. Miglustat treatment was associated with a reduced rate of disability score worsening in infantile and juvenile patients, both in agreement with increased age at last contact.

• Klíčová slova
• Disease characteristics, NP-C, NP-C disability scales, Niemann-pick disease type C, Prognosis,
• MeSH
• 1-deoxynojirimycin analogy a deriváty   terapeutické užití   MeSH
• dítě MeSH
• lidé MeSH
• lineární modely MeSH
• mladiství MeSH
• Niemannova-Pickova nemoc typu C farmakoterapie   patologie   MeSH
• předškolní dítě MeSH
• prognóza MeSH
• retrospektivní studie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Názvy látek
• 1-deoxynojirimycin MeSH
• miglustat MeSH Prohlížeč

BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinical presentation of the disease. NP-C Suspicion Index (SI) was developed to aid screening and identification of patients with suspicion of NP-C for further clinical evaluation. Here we assess the performance of five NP-C SI models to identify patients with NP-C compared with clinical practice to determine the best SI model for identification of each clinical form of NP-C by age. METHODS: This was a post hoc analysis of a retrospective chart review of patient data collected from five expert NP-C centers. The study assessed the proportion of patients with NP-C who could have been identified using the Original SI, Refined SI, 2/7 SI, 2/3 SI, and Early-Onset SI and evaluated the performance of each SI against clinical practice. A score above a threshold of 70 points for the Original SI, 40 points for the Refined SI, 6 points for the Early-Onset SI, and 2 points for the 2/7 and 2/3 SIs represented identification of NP-C. RESULTS: The study included 63 patients, and of these, 23.8% had a family history of NP-C. Of the available SI tools, the Refined SI performed well in identifying patients with NP-C across all age groups (77.8% infantile, 100% juvenile and 100% adult groups), and earlier identification than clinical diagnosis would have been possible in 50.0% of infantile, 72.7% of juvenile and 87.0% of adult patients. Patients who were not detected by the Refined SI prior to clinical diagnosis mainly presented with delayed developmental milestones, visceral manifestations, neurologic hypotonia, clumsiness, ataxia, vertical supranuclear gaze palsy, parent or siblings with NP-C, dysarthria/dysphagia and psychotic symptoms. CONCLUSION: This study demonstrated the applicability of various SI models for screening and identification of patients with NP-C for further clinical evaluation. Although NP-C is rare and the patient population is limited, this study was conducted in a real-world setting and confirms SI models as useful screening tools that facilitate identification of patients with NP-C earlier in their disease course.

• Klíčová slova
• Clinical diagnosis, Hepatosplenomegaly, NP-C, NP-C Suspicion Index, NP-C disability scales, Neonatal jaundice, Neurologic findings, Niemann-Pick disease Type C, Patient detection, Screening,
• MeSH
• hodnocení rizik MeSH
• lidé MeSH
• Niemannova-Pickova nemoc typu C diagnóza   MeSH
• novorozenecká žloutenka diagnóza   MeSH
• psychotické poruchy diagnóza   MeSH
• retrospektivní studie MeSH
• věkové faktory MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• Klíčová slova
• CHILD *, CZECHOSLOVAKIA *, DENTAL CARIES SUSCEPTIBILITY *, STATISTICS *,
• MeSH
• dítě MeSH
• incidence MeSH
• lidé MeSH
• náchylnost k zubnímu kazu * MeSH
• statistika jako téma * MeSH
• zubní kaz * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Československo MeSH

• Klíčová slova
• CZECHOSLOVAKIA *, DIABETES MELLITUS *, GENETICS, HUMAN *, STATISTICS *,
• MeSH
• dědičnost * MeSH
• diabetes mellitus * MeSH
• lékařská genetika * MeSH
• statistika jako téma * MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Československo MeSH

• Klíčová slova
• ACCIDENT PREVENTION *, ADOLESCENCE *, CHILD *, CZECHOSLOVAKIA *, HAND INJURIES *, INFANT *, STATISTICS *,
• MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• poranění ruky * MeSH
• prevence úrazů * MeSH
• statistika jako téma * MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Československo MeSH

The dabrafenib plus trametinib (dab + tram) combination has demonstrated durable long-term efficacy in patients with BRAF V600-mutant metastatic melanoma. However, real-world data characterizing patients with long-term benefit are limited. DESCRIBE III was a global, observational, retrospective, chart review study in patients with unresectable or metastatic melanoma treated with dab monotherapy and/or dab + tram combination therapy as part of the Named Patient Program or Individual Patient Program. Overall, 509 patients were enrolled. Patients were categorized into three groups based on their observed treatment duration: long-term (on therapy ≥12 months), intermediate (on therapy ≥6 months and <12 months), and short-term (on therapy <6 months) duration of benefit. More patients in the short-term duration of benefit group had baseline characteristics associated with poor prognosis compared with the other two groups. Median lactate dehydrogenase (LDH) levels (368 U/L) at baseline were also higher in the short-term duration of benefit group. No new safety signals were identified. DESCRIBE III identified baseline characteristics associated with long-term benefit of dab + tram. Lower LDH level and <3 metastatic sites at baseline were associated with a longer duration of benefit, confirming that the findings from COMBI-d and COMBI-v are relevant to patients treated in a real-world setting.

• Klíčová slova
• BRAF V600, chart review, dabrafenib, melanoma, real-world, trametinib,
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: The main objective was to test the hypothesis of the association between D-serine serum levels and negative symptoms in patients with schizophrenia. Secondary objective was to examine the assumption of D-serine serum levels difference between a population of mostly chronic patients with schizophrenia and healthy controls. METHODS: We recruited outpatients with schizophrenia and age and gender matched healthy controls for the study. D-serine and total serine serum levels were measured by high-performance liquid chromatography (HPLC). The Positive and Negative Syndrome Scale (PANSS) and The Scale for the Assessment of Negative Symptoms (SANS) were used to assess schizophrenic symptoms. Non-parametric statistics was used to test the differences in D-serine and total serine serum levels and rank correlation was used to detect the associations with psychopathology. RESULTS: We did not find any differences between patients (n=50) and controls (n=50) in D-serine serum levels. Patients had significantly lower total serine serum levels and higher D-serine/total serine ratio. D-serine serum levels were not associated with the PANSS or the SANS total and subscales scores. Total se-rine serum levels inversely correlated with the SANS total and the PANSS negative symptom subscale scores. CONCLUSION: Decreased, not increased, serum levels of total serine negatively associated with intensity of negative symptoms were detected in patients with schizophrenia. We did not find any relationship between D-serine serum levels and negative symptoms among the patients. These findings do not agree with the previous reports of decreased D-serine and increased total serine serum levels in schizophrenia.

• MeSH
• antipsychotika terapeutické užití   MeSH
• lidé MeSH
• schizofrenie krev   farmakoterapie   patofyziologie   MeSH
• serin krev   MeSH
• statistika jako téma MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• antipsychotika MeSH
• serin MeSH

• Klíčová slova
• ADOLESCENCE *, CHILD *, FACIAL INJURIES *, INFANT *, STATISTICS *, SURGERY, PLASTIC *,
• MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• plastická chirurgie * MeSH
• plastické hmoty * MeSH
• poranění obličeje * MeSH
• statistika jako téma * MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• plastické hmoty * MeSH

BACKGROUND: Dirofilaria immitis and Dirofilaria repens are mosquito-borne zoonotic filarioids typically infecting dogs, causing a potentially fatal cardiopulmonary disease and dermatological conditions, respectively. The females are larviparous, releasing the larvae (microfilariae) into the bloodstream, which further develop in mosquito vectors. However, microfilaremia greatly fluctuates during a 24-h period. As the sampling time can greatly influence the accuracy of diagnosis, the aim of the present study was to assess the circadian periodicity of D. immitis and D. repens in naturally co-infected dogs in an endemic area of Romania and to investigate possible differences of periodicity between these two species. METHODS: Overall, four dogs harbouring natural co-infection with D. immitis and D. repens were selected and sampled every two hours for two consecutive days: two dogs in July 2014 and two in July 2015. At each sampling time, a 0.7 ml blood sample was taken. Modified Knott's test was performed on 0.5 ml, and the remaining 0.2 ml were used for DNA extraction and molecular amplification, both in single and duplex PCR reactions. Microfilariae of both species were morphologically identified and counted in each collected sample, microfilaremia was calculated, and fluctuation was charted. RESULTS: The dynamics of microfilaremia showed similar patterns for both Dirofilaria species. In all four dogs, D. immitis was present at all sampling times, with several peak values of microfilaremia, of which one was common for all dogs (1 am), while minimum counts occurred between 5 and 9 am. Similarly, for D. repens, one of the peak values was recorded in all dogs at 1 am, while minimum counts (including zero) occurred at 9 and 11 am. Single species-specific PCR reactions were positive for both D. immitis and D. repens in all collected samples, while duplex PCR failed to amplify D. repens DNA in many cases. CONCLUSIONS: Both Dirofilaria immitis and D. repens microfilariae are subperiodic, following a similar variation pattern, with peak values of microfilaremia registered during the night in Romania. Duplex PCR fails to identify the infection with D. repens in co-infected dogs when the ratio of microfilaremia is in favour of D. immitis.

• Klíčová slova
• Co-infection, Dirofilaria immitis, Dirofilaria repens, Microfilariae, Periodicity,
• MeSH
• cirkadiánní rytmus * MeSH
• Dirofilaria immitis genetika   izolace a purifikace   fyziologie   MeSH
• Dirofilaria repens genetika   izolace a purifikace   fyziologie   MeSH
• dirofilarióza diagnóza   parazitologie   MeSH
• druhová specificita MeSH
• koinfekce parazitologie   veterinární   MeSH
• nemoci psů epidemiologie   MeSH
• parazitemie parazitologie   veterinární   MeSH
• polymerázová řetězová reakce MeSH
• psi MeSH
• zvířata MeSH
• Check Tag
• psi MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Rumunsko MeSH