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Beata Pepłońska

Publications and source records attributed to Beata Pepłońska.

10 recordsLinked to original sources
PubMed2006

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.

Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes are associated with early-onset familial Alzheimer's disease (EOAD). There are several reports describing mutations in PSEN1 in cases with frontotemporal dementia (FTD). We identified two novel mutations in the PSEN1 gene: L226F and L424H. The first mutation was detected in a patient with a clinical diagnosis of FTD and a post-mortem diagnosis of AD. The second mutation is connected with a clinical phenotype of variant AD with strong FTD signs. In silico modeling revealed that the mutations, as well as mutations used for comparison (F177L and L424R), change the local structure, stability and/or properties of the transmembrane regions of the presenilin 1 protein (PS1). In contrast, a silent non-synonymous substitution F175S is eclipsed by external residues and has no influence on PS1 interfacial surface. We suggest that in silico analysis of PS1 substitutions can be used to characterize novel PSEN1 mutations, to discriminate between silent polymorphisms and a potential disease-causing mutation. We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations.

Adult↗
PubMed2004

The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.

Mutations in the presenilin 1 (PSEN1) gene are known to cause nearly 50% of early-onset, familial Alzheimer's disease (AD) cases. To determine whether E318G mutation is related causally to AD in the Polish population E318G mutation frequency was assessed using PCR-RFLP method in a total of 659 subjects: 256 AD patients, 210 healthy, age-matched control subjects, 100 Parkinson's disease patients and 93 centenarians. When the mutation frequencies were compared to healthy controls, no significant differences between the groups were found. It could be concluded that E318G mutation is not related causally to AD in the Polish population, either as a risk factor or a disease causing mutation.

Aged↗
PubMed2004

[Occupational diseases in Poland, 2003].

BACKGROUND: Data on occupational diseases constitute an important element of the bulk of information on the health of workers as well as on the sanitary conditions prevailing in their work environment. Yearly records of the incidence of occupational diseases, and the annual analyses of the incidence data render it possible to identify high-risk groups, so that preventive measures can be taken to reduce the risk of the resultant pathologies. METHODS AND MATERIALS: This work is based on the information included in the "Occupational Disease Reporting Forms" received by the Central Register of Occupational Diseases in 2003. The forms specified the diagnosed disease, patient's age and gender, period of occupational exposure to agents responsible for the disease development, branch of the national economy and the region of the country. The incidence was specified in terms of indices per 100 000 paid employees. RESULTS: A total of 4365 cases of occupational diseases were diagnosed in Poland in 2003. The incidence rate was 46.6 cases per 100 000. The highest rates were recorded for chronic vocal organ diseases (11.7), pneumoconiosis (8.6), bilateral permanent hearing loss (7.9), contagious or parasitic diseases (5.9) and skin diseases (2.3). In 60.7% of patients with diagnosed occupational disease, the period of exposure to a relevant harmful agent was over 20 years. The highest incidence of occupational diseases was recorded in the mining industry in general (372.5 cases per 100 000) and in the coal mining industry in particular (439.4 cases per 100 000 paid employees). CONCLUSIONS: In 2003, the incidence of occupational diseases continued to decrease in Poland. This downward tendency has been observed since 1999. A lower number of cases of hearing loss, contagious or parasitic diseases, chronic voice disorders and of skin diseases mostly contributed to the general decrease in the incidence of occupational diseases.

Humans↗
PubMed2003

Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population.

The saitohin (STH) gene is located in intron 9 of the tau protein gene. It has been postulated that the R allele of Q7R polymorphism at the Saitohin gene is over-represented in the homozygous state in sporadic Alzheimer's disease (AD). Tau protein was implicated in AD pathophysiology and the tau gene haplotype is probably connected with sporadic late-onset Parkinson's disease (PD). We analyzed the STH polymorphism and tau gene haplotype in 100 clinically diagnosed AD cases, 100 PD cases and 100 age-matched healthy controls. We found that the R allele of the STH gene is associated with the H2 haplotype of tau in all cases. Additionally we observed no correlation between R allele frequency and AD or PD.

Aged↗
PubMed2003

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Mutations in three causative genes have been identified in patients with an autosomal-dominant form of early-onset Alzheimer's disease (EOAD). To determine the spectrum of mutations in a group consisting of 40 Polish patients with clinically diagnosed familial EOAD and 1 patient with mild cognitive impairment (MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes. Four previously recognized pathogenic mutations in PSEN1 gene (H163R, M139V) and APP gene (T714A, V715A), and three novel putative mutations in PSEN1 gene (P117R and I213F) and PSEN2 gene (Q228L) were identified. The 34 patients with no mutations detected were older than the patients with mutations. A frequency of APOE4 allele was higher in this group. Frequency of mutations is relatively low (17%), possibly due to used operational definition of a patient with familial EOAD (a patient having at least one relative with early-onset dementia). It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.

Adult↗
PubMed2003

Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia.

Frontotemporal dementia (FTD) is a common neurodegenerative disorder and is connected with about 10% of all dementias. In approximately half of all FTD cases, a positive family history has been reported. To date, several mutations at the tau protein gene (MAPT) were identified causing familial and sporadic FTD. Extensive polymorphic variability at the MAPT gene has also been shown to be a risk factor in progressive supranuclear palsy (PSP). The recently described gene Saitohin (STH), located in the intron 9 of MAPT gene, was also reported to be polymorphic. In the present study 23 unrelated Polish patients with clinically defined sporadic and familial FTD were screened for mutations at the MAPT gene. No pathogenic mutations were found in the group. Several novel silent intronic and exonic mutations were identified, most of them associated with two common haplotypes. In the reported group no correlation between extended MAPT haplotype and APOE genotype was determined. There was also no observed relation between age of onset and APOE status. At the STH gene only a common polymorphic change was found. It is postulated that MAPT mutations are not connected with most of the FTD cases in the Polish population.

Aged↗
PubMed2003

[Epidemiologic analysis of infectious diseases identified as occupational diseases in Poland in the years 1998-2002].

BACKGROUND: In spite of some unquestionable positive tendencies observed over the last few years, occupational infectious diseases still pose a serious problem in Poland. During the last thirty years overall as many as 41,000 cases of occupational contagious and invasive diseases were identified. METHODS AND MATERIALS: The analysis covered all cases of occupational diseases, reported by sanitary and hygiene stations on a specially designed form, to the Register of Occupational Diseases in Poland over the years 1998-2002. The analyses were performed by the disease entities, the job name, and activity sections classified according to Polish Classification of the Economy, and also by voivodeships. Crude numbers of the diseases reported and rates are presented. For the calculation of incidence rates, the statistics of the national economy employees provided by the Central Statistical Office was applied. RESULTS: In total, 4153 cases of infectious diseases were reported to the Register in 1998-2002. Viral hepatitis, tuberculosis, brucellosis and Lyme borelliosis covered (94.3%) of all cases. The analyzed diseases were identified mostly in two economic activity sections: Health and Social Works and Agriculture, Forestry and Hunting. About 63% of all cases were recorded in health care personnel, mostly in nurses, 1372 cases (33%), physicians (9.9%), laboratory workers (8.1%), orderlies (6.5%), dentists, dental assistants and dental technicians (1.9%). A substantial number of infections diseases were recorded in forestry workers (16.2), mostly foresters (10.9%). The highest rates of occupational diseases were found in the Podlaskie, Mazowieckie, Wielkopolskie, Pomorskie and Slaskie voivodships. CONCLUSIONS: At present, Lyme borelliosis and viral hepatitis pose the most serious problem of all infectious occupational diseases in Poland. Despite extensive programs of vaccination against viral hepatitis B, implemented since 1989, this pathology has not as yet been fully eradicated. It can be predicted that in the near future, viral hepatitis C and Lyme borelliosis will mostly influence the epidemiology of infectious occupational diseases in Poland. This situation will continue until relevant vaccines are developed and used in high risk occupational groups.

Communicable Diseases↗
PubMed2002

[Occupational diseases among personnel of Polish hospitals, 2001].

The paper presents the data provided by the Central Register of Occupational Diseases in Poland on the compensated occupational diseases among hospital personnel, registered in 2001. The trends in the incidence of occupational diseases in this population over the period 1994-2001 are also discussed. In total, 394 new cases of occupational diseases among the hospital personnel were registered in 2001, which makes up 52.1% of all cases recorded under the "Health and social work" section of occupational activities, according to the Nomenclature des Activities de Communite Europeene. Most of these cases were found among nurses (47%), followed by physicians (15%), laboratory analysts (11.5%), orderlies (11%), and dentists (3%) and referred mainly to females (84.8%). Contagious and invasive diseases prevailed, constituting 73.9% of all cases. Viral hepatitis made up 72.5% of all registered contagious and invasive diseases: HBV was diagnosed in 46%, HCV in 50.2% and HBV + HCV in 1.8% of all viral hepatitis cases. Dermatoses, mostly of allergic etiology, were the second most prevalent diseases (11.4%), and were most frequently associated with exposure to latex, thiurams, mercaptobenzothiazole and non-specified rubber compounds-73% of all factors causing allergic dermatoses. Chronic diseases of locomotor system, chronic diseases of peripheral nervous system, chronic diseases of bronchi, chronic inflammation of nose, pharynx, larynx and trachea, and intoxications were also reported. Almost twofold decrease in the incidence rate in the population of workers referred to "Health and social work" activity section was observed in 2001 compared to 1994. The decrease in the number of the registered occupational diseases seen in the hospital employees was mostly due to the effective anti HBV prevention programs carried out in Poland among health care personnel since 1989.

Adult↗
PubMed2002

Occupational diseases in Poland, 2001.

The Central Register of Occupational Diseases keeps the records of all reported and certified occupational diseases in Poland. In this paper the incidence of occupational diseases in Poland in 2001 is discussed on the basis of the data provided by the Register. The changes in the incidence pattern over the recent 30 years are also shown. In 2001, 6,007 cases of occupational diseases were registered, with the incidence rate of 63.2 per 100,000 employees. The highest incidence rates were noted for seven categories of diseases: the vocal organ diseases, noise-induced hearing loss, pneumoconioses, contagious and invasive diseases, dermatoses, chronic diseases of bronchi, and vibration syndrome. Altogether these diseases covered 5,239 cases (87.2% of all registered cases). Mining and quarrying, agriculture, hunting and forestry, education, health and social works were the economy activities with the highest incidence of occupational diseases. The majority of occupational diseases (93.9%) have developed after a long-term (over 10 years) exposure to particular harmful factors. As much as 58.5% of cases were recorded in males. The predominant occupational diseases in males were occupational hearing lesions, while in females chronic vocal organ diseases, most common in teachers, were most frequently recognized. In Poland, the diseases of the vocal organ poses a serious problem from the medical and socio-economic points of view. These pathologies show the highest dynamics of the incidence among all registered occupational diseases. Over the last five years the vocal organ diseases have moved upwards to the top in the ranking, both with respect to the number of cases and the incidence rate. Since 1998, the incidence of occupational diseases has been continuously showing a downward tendency. Four categories of occupational diseases have accounted mostly for this decline: noise-induced hearing loss, chronic diseases of vocal organ, contagious and invasive diseases, and dermatoses (a decrease by 64%, 54%, 40%, and 51%, respectively). The decreased incidence has been also noted for "classical pathologies": chronic poisonings, pneumoconioses and vibration syndrome. At least three most important explanatory factors have to be pointed out: a) the decrease in employment and liquidation of industrial plants with the highest health risk; b) the modernization of plants and improvement of working conditions: and c) effective prevention.

Female↗