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1.
Sensors (Basel) ; 22(13)2022 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-35808303

RESUMO

When producing packaging from corrugated board, material weakening often occurs both during the die-cutting process and during printing. While the analog lamination and/or printing processes that degrade material can be easily replaced with a digital approach, the die-cutting process remains overwhelmingly analog. Recently, new innovative technologies have emerged that have begun to replace or at least supplement old techniques. This paper presents the results of laboratory tests on corrugated board and packaging made using both analog and digital technologies. Cardboard samples with digital and analog creases are subject to various mechanical tests, which allows for an assessment of the impact of creases on the mechanical properties of the cardboard itself, as well as on the behavior of the packaging. It is proven that digital technology is not only more repeatable, but also weakens the structure of corrugated board to a much lesser extent than analog. An updated numerical model of boxes in compression tests is also discussed. The effect of the crushing of the material in the vicinity of the crease lines in the packaging arising during the analog and digital finishing processes is taken into account. The obtained enhanced computer simulation results closely reflect the experimental observations, which prove that the correct numerical analysis of corrugated cardboard packaging should be performed with the model taking into account the crushing.


Assuntos
Embalagem de Produtos , Simulação por Computador
2.
Materials (Basel) ; 16(4)2023 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-36837262

RESUMO

Recently, AI has been used in industry for very precise quality control of various products or in the automation of production processes through the use of trained artificial neural networks (ANNs) which allow us to completely replace a human in often tedious work or in hard-to-reach locations. Although the search for analytical formulas is often desirable and leads to accurate descriptions of various phenomena, when the problem is very complex or when it is impossible to obtain a complete set of data, methods based on artificial intelligence perfectly complement the engineering and scientific workshop. In this article, different AI algorithms were used to build a relationship between the mechanical parameters of papers used for the production of corrugated board, its geometry and the resistance of a cardboard sample to edge crushing. There are many analytical, empirical or advanced numerical models in the literature that are used to estimate the compression resistance of cardboard across the flute. The approach presented here is not only much less demanding in terms of implementation from other models, but is as accurate and precise. In addition, the methodology and example presented in this article show the great potential of using machine learning algorithms in such practical applications.

3.
Materials (Basel) ; 16(1)2023 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-36614797

RESUMO

The edge crush test is the most popular laboratory test in the corrugated packaging industry. It measures the edge crush resistance of a sample in the cross-fiber direction (CD), also known as the ECT index. This parameter is widely used for the specification of the board by its producers. It is also utilized in most analytical formulas describing the load capacity of the packaging. On the other hand, the ECT value can be estimated from both analytical and numerical models based on the basic parameters of each constituent paper. Knowing the compressive strength in CD (commonly known as SCT) and the elastic properties of the individual layers, the sample geometry (i.e., the period and height of the corrugated layer), as well as the boundary conditions, the ECT value can be calculated. This is very useful as new boards can be virtually analyzed before being manufactured. In this work, both detailed numerical models based on finite elements (FE) methods and very simple analytical (engineering) models were used for the ECT calculations. All presented models were validated with experimental data. The surprising consistency and high precision of the results obtained with the simplest approach was additionally analyzed in the study.

4.
Am J Med Genet A ; 158A(6): 1442-6, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22581569

RESUMO

We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disability, quadriparesis, and progressive cerebrospinal ataxia. The chromosomal aberration found in the proband was inherited from his father who was found to have a balanced reciprocal translocation of chromosomes 3p and 4q, which was in turn inherited from the paternal grandfather. The final cytogenetic diagnosis according to microarray was 46,XY,der(3)t(3;4)(p26.1;q32.2)arr 3p26.1(39,066-5,363,502)x1,4q32.2q35.2(162,555,236-191,173,881)x3. We describe the cytogenetic investigations that led to the identification of the breakpoints. In addition, we present an overview of the clinical features found in patients with partial 3p monosomies and partial 4q trisomies as reported in the literature.


Assuntos
Anormalidades Múltiplas/genética , Ataxia/genética , Deleção Cromossômica , Deficiência Intelectual/genética , Trissomia , Anormalidades Múltiplas/diagnóstico , Ataxia/diagnóstico , Criança , Pré-Escolar , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 4 , Hibridização Genômica Comparativa , Humanos , Deficiência Intelectual/diagnóstico , Cariotipagem , Masculino , Linhagem
5.
Materials (Basel) ; 15(2)2022 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-35057380

RESUMO

Bending stiffness (BS) is one of the two most important mechanical parameters of corrugated board. The second is edge crush resistance (ECT). Both are used in many analytical formulas to assess the load capacity of corrugated cardboard packaging. Therefore, the correct determination of bending stiffness is crucial in the design of corrugated board structures. This paper focuses on the analytical determination of BS based on the known parameters of the constituent papers and the geometry of the corrugated layers. The work analyzes in detail the dependence of the bending stiffness of an asymmetric, five-layer corrugated cardboard on the sample arrangement. A specimen bent so that the layers on the lower wave side are compressed has approximately 10% higher stiffness value. This is due to imperfections, which are particularly important in the case of compression of very thin liners. The study showed that imperfection at the level of a few microns causes noticeable drops in bending stiffness. The method has also been validated by means of experimental data from the literature and simple numerical finite element model (FEM). The obtained compliance of the computational model with the experimental model is very satisfactory. The work also included a critical discussion of the already published data and observations of other scientists in the field.

6.
Materials (Basel) ; 15(6)2022 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-35329601

RESUMO

Designing corrugated board packaging is a real challenge, especially when the packaging material comes from multiple recycling. Recycling itself is a pro-ecological and absolutely necessary process, but the mechanical properties of materials that are processed many times deteriorate with the number of cycles. Manufacturers are trying to use unprecedented design methods to preserve the load-bearing capacity of packaging, even when the material itself is of deteriorating quality. An additional obstacle in the process of designing the structure of paper packaging is the progressive systematic reduction of the grammage (the so-called lightweight process) of corrugated cardboard. Therefore, this research presents a critical look at the process of optimal selection of corrugated cardboard for packaging structures, depending on the paper used. The study utilizes analytical, simplified formulas to estimate the strength of cardboard itself as well as the strength of packaging, which are then analyzed to determine their sensitivity to changes in cardboard components, such as the types of paper of individual layers. In the performed sensitivity analysis, numerical homogenization was used, and the influence of initial imperfections on the packaging mechanics was determined. The paper presents a simple algorithm for the optimal selection of the composition of corrugated cardboard depending on the material used and the geometry of the packaging, which allows for a more conscious production of corrugated cardboard from materials derived, e.g., from multiple recycling.

7.
Materials (Basel) ; 15(3)2022 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-35160666

RESUMO

The optimal selection of the composition of corrugated cardboard dedicated to specific packaging structures is not an easy task. The use of lighter boards saves material, but at the same time increases the risk of not meeting the guaranteed load capacity. Therefore, the answer to the question "in which layer the basis weight of the paper should be increased?" is not simple or obvious. The method proposed here makes it easy to understand which components and to what extent they affect the load-bearing capacity of packages of various dimensions. The use of numerical homogenization allows for a quick transformation of a cardboard sample, i.e., a representative volume element (RVE) into a flat plate structure with effective parameters describing the membrane and bending stiffness. On the other hand, the use of non-local sensitivity analysis makes it possible to find the relationship between the parameters of the paper and the load capacity of the packaging. The analytical procedures presented in our previous studies were used here to determine (1) the edge crush resistance, (2) critical load, and (3) the load capacity of corrugated cardboard packaging. The method proposed here allows for obtaining a comprehensive and hierarchical list of the parameters that play the most important role in the process of optimal packaging design.

8.
Nat Nanotechnol ; 17(11): 1192-1197, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36138199

RESUMO

The MXene family of two-dimensional transition metal carbides and nitrides already includes ~50 members with distinct numbers of atomic layers, stoichiometric compositions and solid solutions, in-plane or out-of-plane ordering of atoms, and a variety of surface terminations. MXenes have shown properties that make them attractive for applications ranging from energy storage to electronics and medicine. Although this compositional variability allows fine-tuning of the MXene properties, it also creates challenges during the analysis of MXenes because of the presence of multiple light elements (for example, H, C, N, O, and F) in close proximity. Here, we show depth profiling of single particles of MXenes and their parent MAX phases with atomic resolution using ultralow-energy secondary-ion mass spectrometry. We directly detect oxygen in the carbon sublattice, thereby demonstrating the existence of oxycarbide MXenes. We also determine the composition of adjacent surface termination layers and show their interaction with each other. Analysis of the metal sublattice shows that Mo2TiAlC2 MAX exhibits perfect out-of-plane ordering, whereas Cr2TiAlC2 MAX exhibits some intermixing between Cr and Ti in the inner transition metal layer. Our results showcase the capabilities of the developed secondary-ion mass spectrometry technique to probe the composition of layered and two-dimensional materials with monoatomic-layer precision.

9.
Neurol Neurochir Pol ; 45(4): 391-8, 2011.
Artigo em Polonês | MEDLINE | ID: mdl-22102001

RESUMO

The FMR1 gene premutation has recently been reported to be associated with a neurodegenerative syndrome, characterized by intention tremor, gait ataxia and cognition deficits in persons older than 50 years. We present a 74-year-old man with very severe intention tremor, slight postural tremor and gait ataxia. The molecular analysis revealed that he was a carrier of 91 CGG repeats in the FMR1 gene. His sister (68 years old), with head tremor, was found to be a carrier of 81 CGG repeats, while his younger brother, also with slight head and postural tremor, was a carrier of 98 CGG repeats. Molecular analysis of the proband's asymptomatic daughter revealed an expansion over 120 CGG. Her daughter, with mild intellectual disability, was a carrier of a full mutation. Thus, in the presented family with heterogeneous clinical presentation we found 4 premutations and one full mutation in the FMR1 gene.


Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Mutação/genética , Linhagem , Idoso , Ataxia/genética , Predisposição Genética para Doença/genética , Humanos , Masculino , Fenótipo , Tremor/genética
10.
Cent European J Urol ; 74(3): 422-428, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34729232

RESUMO

INTRODUCTION: The aim of this article was to evaluate non-invasive tests, which were typically used in preoperative diagnosis of male patients with anterior urethral strictures in the assessment of the urethral resistance caused by urethral occlusion. MATERIAL AND METHODS: A total of 63 adult males with confirmed urethral stricture and aged below 55 years old were enrolled in the study. Data obtained from non-invasive tests such as uroflowmetry (UF), ultrasound examination (USG), and questionnaires such as from The International Prostatic Symptom Score (IPSS), and The Patient-Reported Outcome Measure for Urethral Stricture Surgery (USS-PROM) were analyzed. RESULTS: Among all analyzed non-invasive tests, bladder wall thickness (BWT) showed the highest correlation with the degree of urethral occlusion described as percentage of preserved urethral lumen (r = -0.70; p <0.0001). UF variables presented medium degree of correlation, with maximum flow rate (Qmax) as the best parameter (p = 0.45; p = 0.0005). Results from both questionnaires did not show any correlation with the severity of the urethral stricture. Multiple linear regression analysis showed that only BWT was an independent predictor in detection degree of urethral occlusion. CONCLUSIONS: UF and USG seem to be useful additional diagnostic tools in assessment severity of urethral occlusion in men suffering from anterior urethral stricture. Among them, USG had the highest correlation with degree of urethral occlusion.

11.
Materials (Basel) ; 14(12)2021 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-34200842

RESUMO

The article presents the results of research on the structural evolution of the composite Fe-Al-based coating deposited by arc spray with initial low participation of in situ intermetallic phases. The arc spraying process was carried out by simultaneously melting two different electrode wires, aluminum and low alloy steel (98.6 wt.% of Fe). The aim of the research was to reach protective coatings with a composite structure consisting of a significant participation of FexAly as intermetallic phases reinforcement. Initially, synthesis of intermetallic phases took place in situ during the spraying process. In the next step, participation of FexAly fraction was increased through the annealing process, with three temperature values, 700 °C, 800 °C, and 900 °C. Phase structure evolution of the Fe-Al arc-sprayed coating, stimulated by annealing, has been described by means of SEM images taken with a QBSD backscattered electron detector and by XRD and conversion electron Mössbauer spectroscopy (CEMS) investigations. Microhardness distribution of the investigated annealed coatings has been presented.

12.
Materials (Basel) ; 14(18)2021 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-34576402

RESUMO

In the modern world, all manufacturers strive for the optimal design of their products. This general trend is recently also observed in the corrugated board packaging industry. Colorful prints on displays, perforations in shelf-ready-packaging and various types of ventilation holes in trays, although extremely important for ergonomic or functional reasons, weaken the strength of the box. To meet the requirements of customers and recipients, packaging manufacturers outdo each other with new ideas for the construction of their products. Often the aesthetic qualities of the product become more important than the attention to maintaining the standards of the load capacity of the packaging (which, apart from their attention-grabbing functions, are also intended to protect transported products). A particular flaps design (both top and bottom) and its influence on the strength of the box are investigated in this study. An updated analytical-numerical approach is used here to predict the strength of packaging with various flap offsets. Experimental results indicated a significant decrease in the static load-bearing capacity of packaging in the case of shifted flap creases. The simulation model proposed in our previous work has been modified and updated to take into account this effect. The results obtained by the model presented in this paper are in satisfactory agreement with the experimental data.

13.
Materials (Basel) ; 14(14)2021 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-34300705

RESUMO

The corrugated board packaging industry is increasingly using advanced numerical tools to design and estimate the load capacity of its products. This is why numerical analyses are becoming a common standard in this branch of manufacturing. Such trends cause either the use of advanced computational models that take into account the full 3D geometry of the flat and wavy layers of corrugated board, or the use of homogenization techniques to simplify the numerical model. The article presents theoretical considerations that extend the numerical homogenization technique already presented in our previous work. The proposed here homogenization procedure also takes into account the creasing and/or perforation of corrugated board (i.e., processes that undoubtedly weaken the stiffness and strength of the corrugated board locally). However, it is not always easy to estimate how exactly these processes affect the bending or torsional stiffness. What is known for sure is that the degradation of stiffness depends, among other things, on the type of cut, its shape, the depth of creasing as well as their position or direction in relation to the corrugation direction. The method proposed here can be successfully applied to model smeared degradation in a finite element or to define degraded interface stiffnesses on a crease line or a perforation line.

14.
Materials (Basel) ; 14(19)2021 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-34640164

RESUMO

The standard edge crush test (ECT) allows the determination of the crushing strength of the corrugated cardboard. Unfortunately, this test cannot be used to estimate the compressive stiffness, which is an equally important parameter. This is because any attempt to determine this parameter using current lab equipment quickly ends in a fiasco. The biggest obstacle is obtaining a reliable measurement of displacements and strains in the corrugated cardboard sample. In this paper, we present a method that not only allows for the reliable identification of the stiffness in the loaded direction of orthotropy in the corrugated board sample, but also the full orthotropic material stiffness matrix. The proposed method uses two samples: (a) traditional, cut crosswise to the wave direction of the corrugated core, and (b) cut at an angle of 45°. Additionally, in both cases, an optical system with digital image correlation (DIC) was used to measure the displacements and strains on the outer surfaces of samples. The use of a non-contact measuring system allowed us to avoid using the measurement of displacements from the crosshead, which is burdened with a large error. Apart from the new experimental configuration, the article also proposes a simple algorithm to quickly characterize all sought stiffness parameters. The obtained results are finally compared with the results obtained in the homogenization procedure of the cross-section of the corrugated board. The results were consistent in both cases.

15.
Neurol Neurochir Pol ; 44(3): 264-76, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20625963

RESUMO

Myotonic dystrophy (DM), the most common dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two genetically distinct forms of DM are identified - type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of CTG in the myotonic dystrophy protein kinase gene, whereas in DM2 the expansion of tetranucleotide repeats (CCTG) in the zinc finger protein 9 gene was identified. Both mutations are dynamic and are located in non-coding parts of the genes. Phenotype variability of DM1 and DM2 is caused by a molecular mechanism due to mutated RNA toxicity. This paper reviews the clinical features of both types of myotonic dystrophies and summarizes current views on pathogenesis of myotonic dystrophy.


Assuntos
Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Proteínas Serina-Treonina Quinases/genética , Proteínas de Ligação a RNA/genética , Adulto , Humanos , Mutação , Distrofia Miotônica/terapia , Miotonina Proteína Quinase , Fenótipo
16.
Neurol Neurochir Pol ; 44(3): 238-45, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20625959

RESUMO

BACKGROUND AND PURPOSE: Autosomal dominant spinocerebellar ataxias (SCAs) belong to a group of neurodegenerative disorders usually of adult age at onset. Predominant clinical features are progressive ataxia, dysarthria, as well as pyramidal signs and polyneuropathy. Molecular analysis allows particular types of SCA to be distinguished. Genetic tests are applied in 10 types of SCA resulting from dynamic mutations: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and DRPLA. MATERIAL AND METHODS: DNA samples from 1598 patients with ataxia symptoms were analysed to establish the number of CAG/CTG repeats in respective genes excluding SCA10. RESULTS: We diagnosed 224 cases of SCA1 (120 families) and 49 cases of SCA2 (23 families). Moreover, presymptomatic testing was done in 85 individuals from SCA1 families and for 21 cases from SCA2 families. An increased number of CTG repeats in the SCA8 gene was observed in 14 families and in 3 families a rare type of SCA, SCA17, was detected. CONCLUSIONS: Our data suggest that frequencies of some types of SCA in Poland are different from those in other European countries, with irregular distribution within the country. The most frequent types are SCA1 and SCA2. A striking feature of the Polish population is the lack of SCA3 - the most frequent type in Western Europe.


Assuntos
Frequência do Gene , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Proteínas Repressoras/genética , Ataxias Espinocerebelares/genética , Adulto , Idade de Início , Idoso , Alelos , Ataxina-1 , Ataxina-10 , Ataxina-3 , Ataxina-7 , Ataxinas , Canais de Cálcio/genética , Análise Mutacional de DNA , Feminino , Genética Populacional , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Proteína Fosfatase 2/genética , RNA Longo não Codificante , RNA não Traduzido , Espectrina/genética , Ataxias Espinocerebelares/epidemiologia , Proteína de Ligação a TATA-Box/genética
17.
Kardiol Pol ; 66(12): 1289-95, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19169975

RESUMO

BACKGROUND: Heart rate turbulence (HRT) is modulated by the baroreceptor reflex, and it has been suggested that it could be used as a measure of autonomic dysfunction. Impaired HRT has a significant prognostic value in patients after myocardial infarction. The usefulness of HRT parameters in CHF patients has not yet been well established. AIM: To assess the relationship between HRT parameters, clinical course of CHF and selected biochemical markers with respect to their prognostic value in CHF patients. METHODS: A 64 of 100 consecutive CHF patients, in whom it was possible to calculate HRT, were divided into four groups according to NYHA class. Uric acid (UA) and brain natriuretic peptide (BNP) concentrations were measured. Heart rate turbulence was analysed from 24-hour Holter ECG and characterised by two parameters: turbulence onset (TO) and turbulence slope (TS). The results of 20 healthy persons served as a control group. Follow-up examinations were performed after 6 and 12 months. RESULTS: In patients with CHF both HRT parameters (TO and TS) were significantly impaired in comparison to TO and TS in healthy subjects. A negative correlation between these parameters was found. A strong positive correlation between TO and NYHA class and a significant negative correlation between TS and BNP and UA concentrations were observed. There were 11 deaths during one-year follow-up. Patients who died due to CHF had significantly lower TS and higher TO values in comparison to survivors. CONCLUSIONS: Heart rate turbulence is impaired in CHF patients. HRT parameters show a significant correlation with some clinical factors: NYHA class, BNP and UA concentrations. Both HRT parameters, TO and TS, seem to be significant prognostic markers in patients with CHF.


Assuntos
Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/epidemiologia , Insuficiência Cardíaca/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Arritmias Cardíacas/fisiopatologia , Estudos de Casos e Controles , Causalidade , Doença Crônica , Comorbidade , Eletrocardiografia Ambulatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico/sangue , Pressorreceptores/fisiopatologia , Prognóstico , Análise de Sobrevida , Ácido Úrico/sangue
18.
Kardiol Pol ; 66(12): 1306-8, 2008 Dec.
Artigo em Polonês | MEDLINE | ID: mdl-19169978

RESUMO

Heparin-induced thrombocythopenia (HIT) is a potentially serious complication of heparin treatment, rarely observed in cardiological wards. We present a case of a 38-year-old woman with dilated cardiomyopathy and massive pulmonary embolism treated with alteplase and unfractionated heparin. On 12th day an unexpected fall in platelet count was observed, without new signs of thrombosis. The HIT type II was diagnosed. Patient was treated effectively and safely by 7.5 mg of fondaparinux given subcutaneously once daily for 10 days.


Assuntos
Cardiomiopatia Dilatada/complicações , Heparina/efeitos adversos , Polissacarídeos/uso terapêutico , Embolia Pulmonar/tratamento farmacológico , Trombocitopenia/induzido quimicamente , Trombocitopenia/tratamento farmacológico , Adulto , Anticoagulantes/uso terapêutico , Feminino , Fondaparinux , Humanos , Injeções Subcutâneas , Embolia Pulmonar/complicações
19.
Neurol Neurochir Pol ; 42(6): 497-504, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19235102

RESUMO

BACKGROUND AND PURPOSE: The aim of this study was to determine the molecular basis of the disorder in patients suspected of spinocerebellar ataxias (SCAs) and search for premutation in the FMR1 gene causing FXTAS among patients in whom 9 SCA types were previously excluded. MATERIAL AND METHODS: DNA obtained from 1385 patients suspected of SCA and 516 controls were used for molecular tests. DNA analysis was carried out by PCR reaction with specific primers. PCR products were separated in denaturing polyacrylamide gels in an ABIPrism 377 sequencer. Amplification of polymorphic regions embracing trinucleotide repeats was performed in the following genes: ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN80S (SCA8), PPP2R2B (SCA12), TBP (SCA17), ATN1 (DRPLA). Afterwards, a search for FXTAS caused by premutation in the FMR1 gene was performed. Two hundred and sixty-nine subjects selected from the study group with 9 excluded types of SCAs were tested; a subgroup of 178 males aged 50 years was sorted out. RESULTS: Molecular analysis in 1385 individuals revealed SCA1 in 225, SCA2 in 56, SCA8 in 33, SCA17 in 4 subjects. SCA3, SCA6, SCA7, SCA12, and DRPLA were not detected. Within the subgroup aged>or=50 years with ataxia in whom 9 types of SCAs were excluded only one case of FXTAS was detected, which is 1/178 (0.56%), and within the group of males>or=70 years (n=19) one case was also found (5.26%). CONCLUSIONS: The low frequency of FXTAS in the studied material probably results from the fact that the syndrome is much more common in elderly persons (penetrance of the pathogenic premutation gene is higher among elderly individuals).


Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Frequência do Gene/genética , Mutação , Proteínas do Tecido Nervoso/genética , Ataxias Espinocerebelares/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Instabilidade Genômica , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Reação em Cadeia da Polimerase , Ataxias Espinocerebelares/epidemiologia , Expansão das Repetições de Trinucleotídeos/genética
20.
Neurol Neurochir Pol ; 42(3): 203-9, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18651325

RESUMO

BACKGROUND AND PURPOSE: The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP). MATERIAL AND METHODS: The material comprised 224 DNA samples isolated from peripheral blood from patients suspected of HD and 100 DNA samples from unaffected controls. The control group was used to determine the normal range of the number of CAG/CTG repeats in genes JPH3, ATN1 and TBP in the Polish population. Molecular analysis was carried out by PCR reaction, embracing microsatellite repeats in genes JPH3, ATN1 and TBP with specific, fluorescently labelled primers. PCR products were separated in polyacrylamide gels. The normal ranges of the number of repeats established for the control group in genes JPH3, ATN1 and TBP were 7-19, 9-27 and 29-45, respectively. RESULTS: Molecular analysis of DNA from 224 individuals suspected of HD (117 women and 107 men) revealed one case of dynamic mutation - 55 CAG repeats - in the TBP locus (SCA17). No cases of DRPLA or HDL-2 were detected. The range of CAG/CTG repeats for the JPH3 gene in the patient group was 11-19, with the most common alleles containing 14 and 16 repeats. For the ATN1 gene in patients the range of 8-27 repeats was established and the most frequent allele with 16 triplets was present. CONCLUSIONS: The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.


Assuntos
Doença de Huntington/genética , Dissinergia Cerebelar Mioclônica/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Ataxias Espinocerebelares/genética , Proteína de Ligação a TATA-Box/genética , Resinas Acrílicas , Adulto , Análise Mutacional de DNA/métodos , Feminino , Humanos , Proteína Huntingtina , Masculino , Proteínas de Membrana/genética , Repetições de Microssatélites , Pessoa de Meia-Idade , Polônia , Reação em Cadeia da Polimerase , Valores de Referência , Expansão das Repetições de Trinucleotídeos
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