The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chr... more The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD). Missense mutations in these genes cause abnormal APP processing with subsequent overproduction of amyloidogenic and toxic A beta (42 peptide. A mutational analysis of APP, PS1, and PS2 genes can be used for both symptomatic and presymptomatic genetic testing and counselling in familial Alzheimer's disease (FAD). To contribute to our knowledge on genetic background of Alzheimer's disease in Poland, we screened APP mutations in a sample of familial EOAD cases from Poznan region. We did not find pathogenic mutations within exons 16 and 17 of the APP gene. Our study confirmed that APP gene mutations account only for a very small portion of FAD.
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2021
A growing problem of obesity observed worldwide results in an increased interest of its pathogene... more A growing problem of obesity observed worldwide results in an increased interest of its pathogenesis. One hypothesis is the association between hypothalamus-pituitary-adrenal axis and obesity. AIM The aim of this study was to assess cortisol and DHEA-S secretion and their association with body mass and other selected metabolic parameters. MATERIALS AND METHODS 91 obese patients and 50 non-obese controls were recruited. The obese group was further subdivided into metabolically healthy and metabolically unhealthy individuals. Blood cortisol was assessed in the morning and in the evening. Other laboratory and anthropometric parameters were also checked. In the obese group, DHEA-S was measured additionally and cortisol/DHEAS ratio calculated. RESULTS Morning and evening cortisol concentrations were comparable in two studied groups (p>0.05). The only significant difference was the morning to evening cortisol amplitude (212.97±140.24 in the obese vs 171.81±94.00 in the non-obese, p=0.0...
Alzheimer’s disease (AD) leads to the generation of β-amyloid (Aβ), which may damage DNA and thus... more Alzheimer’s disease (AD) leads to the generation of β-amyloid (Aβ), which may damage DNA and thus lead to apoptosis induction by the p53 pathway. Dysfunction of the p53 protein may then be connected with the development of AD. Studies were conducted on 28 AD patients and 30 non-AD controls. Analysis of TP53 mutations in exon 7 was performed on DNA isolated from whole blood and biochemical parameters in the peripheral lymphocytes of these individuals. Our study showed a silent mutation TP53 C708T (21%) [p < 0.05] and a missense mutation TP53 C748A (4%) only in the AD patients. Moreover, in AD patients with the TP53 C748A mutation, the level of 8-oxo-2’deoxyguanosine (8-oxo2dG) was more than 5 times higher than the average level in this study group. In AD patients with the wild-type TP53 gene, the level of 8-oxo2dG was correlated with the level of protein p53 (R = +0.7388, p < 0.05). The level of the oxoguanine DNA glycosylase 1 (OGG1) protein was similar in AD patients with the...
Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial ea... more Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial early-onset Alzheimer's disease (EOAD). In order to assess the genetic contribution of the PS genes in a series of Polish patients, we performed a mutational analysis in 6 autosomal dominant (ADEOAD), 8 familial and 41 sporadic EOAD cases from Poznan region. Three missense mutations in the PS1 gene (Ala246Glu in exon 7, Pro267Leu in exon 8, and Leu424Arg in exon 12) were found in patients from families with ADEOAD. In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases. The variation was also absent from other 53 patients and 48 controls. Therefore, we could not confirm the previous suggestion that the Glu318Gly substitution may be a risk factor for AD.
Zespol twiddler jest spowodowany bezwiednym bądź celowym zewnetrznym obracaniem zaimplantowanego ... more Zespol twiddler jest spowodowany bezwiednym bądź celowym zewnetrznym obracaniem zaimplantowanego stymulatora serca lub generatora impulsow do glebokiej stymulacji mozgu, powodującym skrecenie, przemieszczenie, a czesto rowniez zlamanie elektrody w kieszonce skornej. Przedstawiono przypadek pacjentki z chorobą Parkinsona leczonej operacyjnie metodą obustronnej glebokiej stymulacji mozgu z implantacją elektrod do jądra nisko- wzgorzowego, u ktorej wykryto skrecenie i przerwanie przewodu lączącego generator impulsow z elektrodą. Opisano diagnostyke obrazową oraz leczenie, ktore polegalo na wymianie przerwanego lącznika.
Stroke is a major cause of morbidity in industrialized countries, representing 8% of total deaths... more Stroke is a major cause of morbidity in industrialized countries, representing 8% of total deaths across Europe in 2017. It is also a very costly disorder, frequently caused by atrial fibrillation. We aimed to calculate the cost of stroke hospitalization in 2018 in Poznań (Poland). We also intended to present patients with the first AF diagnosis at the time of stroke. The study was conducted from January 2019 to July 2020. Data were obtained from hospital records and from the hospital accounting department. Out of 164 patients included in the study, 41 had AF and in 18 cases AF was first diagnosed at the time of stroke. The cost of hospitalization in Poznań was EUR 139,257.21 (x¯= EUR 849.13). Among those with concomitant AF, the general cost of inpatient care was EUR 33,859.18 (x¯= EUR 825.83). Considering those who had AF first diagnosed during hospitalization the cost was EUR 16,248.97 (x¯= EUR 906.24). Stroke is associated with high costs of inpatient care, which turned out to b...
Parkinson’s disease (PD) is a major public health problem. Since currently there are no reliable ... more Parkinson’s disease (PD) is a major public health problem. Since currently there are no reliable diagnostic tools to reveal the early steps of PD, new methods should be developed, including those searching the variations in human metabolome. Alterations in human metabolites could help to establish an earlier and more accurate diagnosis. The presented research shows a targeted metabolomics study of both of the serum and CSF from PD patients, atypical parkinsonian disorders (APDs) patients, and the control. The use of the LC-MS/MS system enabled to quantitate 144 analytes in the serum and 51 in the CSF. This information about the concentration enabled for selection of the metabolites useful for differentiation between the studied group of patients, which should be further evaluated as candidates for markers of screening and differential diagnosis of PD and APDs. Among them, the four compounds observed to be altered in both the serum and CSF seem to be the most important: tyrosine, put...
Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of m... more Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of malignant neoplasms. Common paraneoplastic movement disorders include paraneoplastic chorea, dystonia, cerebellar degeneration, different types of encephalitis, opsoclonus-myoclonus syndrome, stiff person syndrome, and neuromyotonia. Syndromes usually develop before tumor diagnosis, have subacute onset, and are associated with serum or cerebrospinal fluid antibodies. Two types of antibodies can be distinguished: antibodies against nuclear and cytoplasmic neuronal antigens (anti-Hu, anti-Ri, anti-Yo, anti-Ma, anti-CV2/CRMP5, anti-Gephrin, and anti-GABATRAP) and antibodies recently identified against cell surface and synaptic proteins (anti-NMDAR, anti-LGI1, and anti-Caspr2). These two types differ from each other in a few important aspects. Antibodies against cell surface and synaptic protein disrupt cell-surface antigens. Clinical symptoms are related to the disruption of antigens and pot...
The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chr... more The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD). Missense mutations in these genes cause abnormal APP processing with subsequent overproduction of amyloidogenic and toxic A beta (42 peptide. A mutational analysis of APP, PS1, and PS2 genes can be used for both symptomatic and presymptomatic genetic testing and counselling in familial Alzheimer's disease (FAD). To contribute to our knowledge on genetic background of Alzheimer's disease in Poland, we screened APP mutations in a sample of familial EOAD cases from Poznan region. We did not find pathogenic mutations within exons 16 and 17 of the APP gene. Our study confirmed that APP gene mutations account only for a very small portion of FAD.
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2021
A growing problem of obesity observed worldwide results in an increased interest of its pathogene... more A growing problem of obesity observed worldwide results in an increased interest of its pathogenesis. One hypothesis is the association between hypothalamus-pituitary-adrenal axis and obesity. AIM The aim of this study was to assess cortisol and DHEA-S secretion and their association with body mass and other selected metabolic parameters. MATERIALS AND METHODS 91 obese patients and 50 non-obese controls were recruited. The obese group was further subdivided into metabolically healthy and metabolically unhealthy individuals. Blood cortisol was assessed in the morning and in the evening. Other laboratory and anthropometric parameters were also checked. In the obese group, DHEA-S was measured additionally and cortisol/DHEAS ratio calculated. RESULTS Morning and evening cortisol concentrations were comparable in two studied groups (p>0.05). The only significant difference was the morning to evening cortisol amplitude (212.97±140.24 in the obese vs 171.81±94.00 in the non-obese, p=0.0...
Alzheimer’s disease (AD) leads to the generation of β-amyloid (Aβ), which may damage DNA and thus... more Alzheimer’s disease (AD) leads to the generation of β-amyloid (Aβ), which may damage DNA and thus lead to apoptosis induction by the p53 pathway. Dysfunction of the p53 protein may then be connected with the development of AD. Studies were conducted on 28 AD patients and 30 non-AD controls. Analysis of TP53 mutations in exon 7 was performed on DNA isolated from whole blood and biochemical parameters in the peripheral lymphocytes of these individuals. Our study showed a silent mutation TP53 C708T (21%) [p < 0.05] and a missense mutation TP53 C748A (4%) only in the AD patients. Moreover, in AD patients with the TP53 C748A mutation, the level of 8-oxo-2’deoxyguanosine (8-oxo2dG) was more than 5 times higher than the average level in this study group. In AD patients with the wild-type TP53 gene, the level of 8-oxo2dG was correlated with the level of protein p53 (R = +0.7388, p < 0.05). The level of the oxoguanine DNA glycosylase 1 (OGG1) protein was similar in AD patients with the...
Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial ea... more Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial early-onset Alzheimer's disease (EOAD). In order to assess the genetic contribution of the PS genes in a series of Polish patients, we performed a mutational analysis in 6 autosomal dominant (ADEOAD), 8 familial and 41 sporadic EOAD cases from Poznan region. Three missense mutations in the PS1 gene (Ala246Glu in exon 7, Pro267Leu in exon 8, and Leu424Arg in exon 12) were found in patients from families with ADEOAD. In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases. The variation was also absent from other 53 patients and 48 controls. Therefore, we could not confirm the previous suggestion that the Glu318Gly substitution may be a risk factor for AD.
Zespol twiddler jest spowodowany bezwiednym bądź celowym zewnetrznym obracaniem zaimplantowanego ... more Zespol twiddler jest spowodowany bezwiednym bądź celowym zewnetrznym obracaniem zaimplantowanego stymulatora serca lub generatora impulsow do glebokiej stymulacji mozgu, powodującym skrecenie, przemieszczenie, a czesto rowniez zlamanie elektrody w kieszonce skornej. Przedstawiono przypadek pacjentki z chorobą Parkinsona leczonej operacyjnie metodą obustronnej glebokiej stymulacji mozgu z implantacją elektrod do jądra nisko- wzgorzowego, u ktorej wykryto skrecenie i przerwanie przewodu lączącego generator impulsow z elektrodą. Opisano diagnostyke obrazową oraz leczenie, ktore polegalo na wymianie przerwanego lącznika.
Stroke is a major cause of morbidity in industrialized countries, representing 8% of total deaths... more Stroke is a major cause of morbidity in industrialized countries, representing 8% of total deaths across Europe in 2017. It is also a very costly disorder, frequently caused by atrial fibrillation. We aimed to calculate the cost of stroke hospitalization in 2018 in Poznań (Poland). We also intended to present patients with the first AF diagnosis at the time of stroke. The study was conducted from January 2019 to July 2020. Data were obtained from hospital records and from the hospital accounting department. Out of 164 patients included in the study, 41 had AF and in 18 cases AF was first diagnosed at the time of stroke. The cost of hospitalization in Poznań was EUR 139,257.21 (x¯= EUR 849.13). Among those with concomitant AF, the general cost of inpatient care was EUR 33,859.18 (x¯= EUR 825.83). Considering those who had AF first diagnosed during hospitalization the cost was EUR 16,248.97 (x¯= EUR 906.24). Stroke is associated with high costs of inpatient care, which turned out to b...
Parkinson’s disease (PD) is a major public health problem. Since currently there are no reliable ... more Parkinson’s disease (PD) is a major public health problem. Since currently there are no reliable diagnostic tools to reveal the early steps of PD, new methods should be developed, including those searching the variations in human metabolome. Alterations in human metabolites could help to establish an earlier and more accurate diagnosis. The presented research shows a targeted metabolomics study of both of the serum and CSF from PD patients, atypical parkinsonian disorders (APDs) patients, and the control. The use of the LC-MS/MS system enabled to quantitate 144 analytes in the serum and 51 in the CSF. This information about the concentration enabled for selection of the metabolites useful for differentiation between the studied group of patients, which should be further evaluated as candidates for markers of screening and differential diagnosis of PD and APDs. Among them, the four compounds observed to be altered in both the serum and CSF seem to be the most important: tyrosine, put...
Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of m... more Paraneoplastic movement disorders are rare, autoimmune-mediated, nonmetastatic complications of malignant neoplasms. Common paraneoplastic movement disorders include paraneoplastic chorea, dystonia, cerebellar degeneration, different types of encephalitis, opsoclonus-myoclonus syndrome, stiff person syndrome, and neuromyotonia. Syndromes usually develop before tumor diagnosis, have subacute onset, and are associated with serum or cerebrospinal fluid antibodies. Two types of antibodies can be distinguished: antibodies against nuclear and cytoplasmic neuronal antigens (anti-Hu, anti-Ri, anti-Yo, anti-Ma, anti-CV2/CRMP5, anti-Gephrin, and anti-GABATRAP) and antibodies recently identified against cell surface and synaptic proteins (anti-NMDAR, anti-LGI1, and anti-Caspr2). These two types differ from each other in a few important aspects. Antibodies against cell surface and synaptic protein disrupt cell-surface antigens. Clinical symptoms are related to the disruption of antigens and pot...
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Papers by Jolanta Florczak