HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.

The heat-shock protein beta-1 (HSPB1) is one of small heat-shock proteins that play an important role in cell functioning by promoting correct folding of other proteins. The HSPB1 mutations are known to cause distal Hereditary Motor Neuropathy type 2B (dHMN2B) and Charcot-Marie-Tooth disease type 2F (CMT2F). More than 30 different mutations in the HSPB1 have been found in patients with CMT2F and dHMN2B. There are cases of the Thr151Ile HSPB1 mutation described in 4 countries: Croatia, Japan, France and Poland. In this paper we present a Polish family with p.Thr151Ile mutation causing distal hereditary motor neuropathy. A 48-year-old male patient presented progressive bilateral lower limb weakness and gait difficulty of typical onset. The presentation of the disease in his daughter, who carries the same mutation is yet uncertain. She has currently no clinical symptoms of the disease but registered mild muscle damage in EMG with correct conduction parameter in ENG.

Academic Motivation and Quality of Life of Polish Medical Students.

BACKGROUND: The skills and attitudes of medical staff affect the quality of the healthcare system, hence the study of academic motivation and quality of life of medical students. MATERIALS AND METHODS: The study involved 203 students of the Jagiellonian University Medical College. Academic motivation was assessed using the Academic Motivation Scale and quality of life using the World Health Organization Quality of Life-BREF questionnaire. Academic Motivation Scale is based on the Self-Determination Theory, which distinguishes several dimensions of motivation arranged along self-determination continuum from amotivation, through extrinsic, controllable motivation, to intrinsic, autonomous motivation. RESULTS: For our students, the main reason for taking up studies was identified regulation, it means that they perceive studying as something important for them, giving more opportunities in the future. Next was intrinsic motivations to know, where gaining knowledge is a value in itself. The third was external regulation, which indicate that the choice of studies was regulated by the dictates of the environment or the desire to obtain a reward. Female students showed a more intrinsically motivational profile than male students. Motivation became less autonomous as the years of study progressed. Most students rated their quality of life as good or very good. There was weak correlation between students' good quality of life and more self-determined academic motivation. CONCLUSIONS: Our students are mainly intrinsically motivated, most of them positively assess the quality of life. A more autonomous approach to learning coexisted with a positive assessment of quality of life.

Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.

Mutations in the CSF1R gene are the most common cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a neurodegenerative disease with rapid progression and ominous prognosis. Hematopoietic stem cell transplantation (HSCT) has been increasingly offered to patients with CSF1R-ALSP. However, different therapy results were observed, and it was not elucidated which patient should be referred for HSCT. This study aimed to determine predictors of good and bad HSCT outcomes in CSF1R-ALSP. We retrospectively analyzed 15 patients, 14 symptomatic and 1 asymptomatic, with CSF1R-ALSP that underwent HSCT. Median age of onset was 39 years, and the median age of HSCT was 43 years. Cognitive impairment was the most frequent initial manifestation (43%), followed by gait problems (21%) and neuropsychiatric symptoms (21%). Median post-HSCT follow-up was 26 months. Good outcomes were associated with gait problems as initial (p = 0.041) and predominant (p = 0.017) manifestation and younger age at HSCT (p = 0.044). Cognitive impairment as first manifestation was a predictor of a bad outcome (p = 0.016) and worsening of cognition post-HSCT (p = 0.025). In conclusion, gait problems indicated a milder phenotype with better response to HSCT and good therapy outcomes. In contrast, patients with a higher burden of cognitive symptoms were most likely not to benefit from HSCT.

Brain Under Fatigue - Can Perceived Fatigability in Multiple Sclerosis Be Seen on the Level of Functional Brain Network Architecture?

Background: Fatigue is one of the most common symptoms of multiple sclerosis (MS), significantly affecting the functioning of the patients. However, the neural underpinnings of physical and mental fatigue in MS are still vague. The aim of our study was to investigate the functional architecture of resting-state networks associated with fatigue in patients with MS. Methods: The sum of 107 high-functioning patients underwent a resting-state scanning session and filled out the 9-item Fatigue Severity Scale (FSS). Based on the FSS score, we identified patients with different levels of fatigue using the cluster analysis. The low-fatigue group consisted of n = 53 subjects, while the high-fatigue group n = 48. The neuroimaging data were analyzed in terms of functional connectivity (FC) between various resting-state networks as well as amplitude of low-frequency fluctuation (ALFF) and fractional amplitude of low-frequency fluctuations (fALFF). Results: Two-sample t-test revealed between-group differences in FC of posterior salience network (SN). No differences occurred in default mode network (DMN) and sensorimotor network (SMN). Moreover, differences in fALFF were shown in the right middle frontal gyrus and right superior frontal gyrus, however, no ALFF differences took place. Conclusion: Current study revealed significant functional network (FN) architecture between-group differences associated with fatigue. Present results suggest the higher level of fatigue is related to deficits in awareness as well as higher interoceptive awareness and nociception.

Evaluation of a Polish Version of the Dundee Ready Education Environment Measure.

INTRODUCTION: The Dundee Ready Education Environment Measure (DREEM) is an instrument that assesses the educational environment. AIM: The aim of this study was to psychometrically evaluate a Polish version of the DREEM instrument. MATERIAL AND METHODS: 203 medical students who fully completed the DREEM questionnaire were included in the study. Validity was evaluated through the analysis of construct validity and reliability. RESULTS: After language validation the internal consistency was assessed. Cronbach's alpha for the overall score was 0.93 and the five subscales were: perceptions of learning 0.86, perceptions of teachers 0.82, perceptions of atmosphere 0.75, academic self-perceptions 0.61, and social-self perceptions 0.61. The exploratory factor analyses, however, yielded dimensions that did not fully correspond to the original DREEM subscales. CONCLUSIONS: Internal consistency of the Polish version of the DREEM scale as a whole was excellent, however for each of five originally developed subscales it was lower and vary a lot; construct validity of Polish version was not compatible with the original structure of the DREEM scale but was reasonable. A new five-factor solution obtained in this study could be a reliable tool for assessing the medical education environment in the Polish circumstances, but it will require confirmation in future study.

Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis: Polish population study and a meta-analysis.

OBJECTIVE: Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population. METHODS: We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System. RESULTS: The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P=0.46). The meta-analysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population. CONCLUSION: Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population.

Beta-blockers use and risk of hyperglycemia in acute stroke patients.

BACKGROUND: Beta-adrenergic blockade prevents or diminishes stress-induced hyperglycemia in different experimental models. The aim of the study was to determine if the use of beta-blockers before stroke reduces the risk of acute hyperglycemia in stroke patients. METHODS: We analyzed the data of 603 consecutive patients with acute ischemic stroke and without pre-stroke diagnosis of diabetes mellitus admitted to stroke unit within 24 h after symptoms onset. RESULTS: Plasma glucose level on admission (6.0 ± 1.4 vs 6.6 ± 1.9 mmol/L, P = 0.01) and fasting glucose on day 1 (5.2 ± 1.1 vs 5.7 ± 1.1 mmol/L, P = 0.02) were significantly lower in patients treated with beta-blockers before stroke than in those who did not receive such a treatment. On multivariate logistic analysis beta-blockers use before stroke was associated with reduced risk of glucose level on admission ≥7.8 mmol/L (OR: 0.22, 95%CI: 0.07-0.74) and fasting glucose on day 1 ≥ 7.0 mmol/L (OR: 0.21, 95%CI: 0.05-0.91). The risk of fasting hyperglycemia defined as glucose ≥6.1 mmol/L did not differ between groups. CONCLUSIONS: Beta-blockage before stroke onset may result in lower plasma glucose on admission and prevent early hyperglycemia in patients without pre-stroke diagnosis of diabetes mellitus.