Wyniki wyszukiwania

1

New coprological and molecular diagnosis of canine spirocercosis

100%

Traversa D., Avolio S., Modry D., Otranto D., Iorio R., Aroch I., Cringoli G., Di Cesare A., Albrechtova K., Mihalca A. D., Lavy E.

Wiadomości Parazytologiczne. Suplement

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2008

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tom 54

2

Rapid identification of Borrelia by high resolution melting analysis of the groEL gene

100%

Kos W., Wodecka B., Anklewicz M., Skotarczak B.

Folia Biologica

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2013

|

tom 61

|

nr 3-4

3

First molecular diagnosis of lophomoniasis: the end of a controversial story

100%

Fakhar M., Nakhaei M., Sharifpour A., Kalani H., Banimostafavi E. S., Abedi S., Safanavaei S., Aliyali M.

Acta Parasitologica

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2019

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tom 64

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nr 2

4

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Molecular diagnosis and taxonomy of parasitic Protozoa

100%

Pieniazek N. J.

Wiadomości Parazytologiczne

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1998

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tom 44

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nr 3

5

Leishmania infantum infection in a domestic cat: a eeal threat or an occasional finding?

84%

Berenguer L. K. A. R., de Andrade Gomes C. F. C., de Oliveira Nascimento J., Mazer Bernardi J. C., Lima V. F. S., de Oliveira J. B., Nascimento Ramos C. A., Nascimento Ramos R. A., Alves L. C.

Acta Parasitologica

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2021

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tom 66

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nr 2

6

Molecular diagnosis of Entamoeba spp. versus microscopy in the Great Cairo

84%

Roshdy M. H., El-Kader N. M. A., Ali-Tammam M., Fuentes I., Mohamed M. M., El-Sheikh N. A., Rubio J. M.

Acta Parasitologica

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2017

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tom 62

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nr 1

7

Mutations in the methyl CpG binding protein 2 (MECP2) gene as a cause of the Rett syndrome

84%

Abramowicz A., Gos M., Bal J.

Acta Neurobiologiae Experimentalis

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2013

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tom 73

|

nr 1

The methyl CpG binding protein 2 (MECP2), protein that binds to methylated DNA sequences and represses the expression of specific genes, is essential for normal function of mature nerve cells. The protein is encoded by MECP2 gene and its mutations are responsible for approximately 90% of all Rett syndrome (RTT) cases. RTT is a neurodevelopmental disorder that affects mainly girls. Its characteristic features include arrested psychomotor development (6–18 months), congenital impairment, loss of speech, characteristic stereotypical movements, regression of gained skills and other neuropsychiatric abnormalities. Nineteen patients with primary clinical diagnosis of RTT were referred for molecular examination. The analysis of MECP2 gene included direct sequencing of exons 2–4 and deletion/ duplication analysis using MLPA method. In nine patients we have found seven known point mutations, including three nonsense substitutions in four individuals (p.R168X, p.R255X, and p.R270X in 2 cases) and three missense changes leading to amino acids substitutions in the methyl-binding domain (p.R133C, p.K135E, p.T158M) or in the transcriptional repression domain (p.R306C in 2 cases). In three other patients, a partial deletion of MECP2 was found, including a deletion of exons 3 and 4 (encompassing 2 to 67 kb) and two different deletions of exon 4, encompassing 44 bp and 1 to 7.3 kb, respectively. Together, we were able to confirm the clinical diagnosis of Rett syndrome in 12 cases. The significant presence of large deletions encompassing entire exons suggests that the MLPA analysis should be performed as an important part of the molecular diagnosis in Rett syndrome.

8

Usefulness of PCR method for detection of Leishmania in Poland

84%

Myjak P., Szulta J., de Almeida M. E., da Silva A. J., Steurer F., Lass A., Pietkiewicz H., Nahorski W. L., Goljan J., Knap J., Szostakowska B.

Polish Journal of Microbiology

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2009

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tom 58

|

nr 3

219-222

Leishmania parasites are the etiological agents of leishmaniosis, with severe course and often fatal prognosis, and the global number of cases has increased in recent decades. The gold standards for the diagnosis of leishmaniosis are microscopic examinations and culture in vitro of the different clinical specimens. The sensitivity of these methods is insufficient. Recent development in specific and sensitive molecular methods (PCR) allows for detection as well as identification of the parasite species (subspecies). The aim of the study was to estimate the usefulness of molecular methods (PCR) for detection of Leishmania species and consequently for the implementation of such methods in routine diagnostics of leishmaniosis in Polish patients returning from endemic areas of the disease. In our investigations we used 54 known Leishmania positive DNA templates (from culture and clinical specimens) received from the CDC (Atlanta, GA, USA). Moreover, 25 samples of bone marrow, blood or other tissues obtained from 18 Polish individuals suspected of leishmaniosis were also examined. In PCR we used two pairs of primers specific to the conserved region of Leishmania kinetoplast DNA (kDNA) minicircle (13A/13B and F/R). Using these primers we obtained amplicons in all DNA templates from the CDC and in three Polish patients suspected for Leishmania infection. In one sample from among these cases we also obtained positive results with DNA isolated from a blood specimen which was previously negative in microscopic examinations.

9

Evaluation of four commercial DNA extraction kits for the detection of Microsporidia and the importance of pretreatments in DNA isolation

84%

Cetinkaya U., Charyyeva A., Sivcan E., Gurbuz E.

Acta Parasitologica

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2018

|

tom 63

|

nr 2

10

Molecular diagnosis and pathological study of Toxoplasma gondii in aborted caprine and ovine fetuses in borderline of Iran–Iraq

84%

Partoandazanpoor A., Sadeghi-Dehkordi Z., Ekradi L., Khordadmehr M., Rassouli M., Sazmand A.

Acta Parasitologica

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2020

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tom 65

|

nr 1

11

Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznan Region

67%

Kowalska A., Wender M., Florczak J., Pruchnik-Wolinska D., Modestowicz R., Szczech J., Rossa G., Kozubski W.

Journal of Applied Genetics

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2003

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tom 44

|

nr 2

12

Molecular studies in osteogenesis imperfecta [OI] III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

67%

Sucharski P., Sanak M., Kostyk E., Pietrzyk J. J., Kruczek A.

Journal of Applied Genetics

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1998

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tom 39

|

nr 4

A BESS-T-Scan analysis of cDNA COL1A1 and COL1A2 obtained by RT-PCR derived from five patients with sporadic forms of ostegenesis imperfecta was performed. The study was done in four patients with type I and one patient with type III OI. The analysis revealed the presence of structural changes in two regions of cDNA COL1A1 in two patients. No quantitative changes referring to COL1A2 gene were noted in any patient. The above analysis was the first application of the BESS-T-Scan technique in a molecular diagnosis of OI. The applied method seems to be useful and fulfil the basic criteria of the screening method to detect and locate mutations.

13

Molecular diagnosis of human diseases based on direct analysis of gene transcripts

59%

Slomski R., Kwiatkowska J.

Bulletin of the Polish Academy of Sciences. Biological Sciences

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1993

|

tom 41

|

nr 2

14

Diagnostyka molekularna niedoboru syntetazy argininobursztynianowej u bydla

51%

Janik A.

Biuletyn Informacyjny. Instytut Zootechniki

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2000

|

tom 38

|

nr 4

21-28

15

Diagnostyka molekularna brunatnej plamistości pieczarki (Agaricus bisporus) wywoływanej przez bakterię Pseudomonas tolaasii

51%

Pudelko K., Pyzalski S.

Progress in Plant Protection

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2010

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tom 50

|

nr 3

Pseudomonas tolaasii, the causual agent of brown blotch disease of cultivated mushrooms in mushroom-growing cellars, is the subject of presented study. Populations of these bacteria are not homogeneous. This work shows that even in the case of one mushroom-growing cellar populations of bacteria are complex (with at least 3 genetically different lines). PCR starters developed by Lee, with the use of nested PCR method allow for efficient identification of strains of P. tolaasii occurring in Polish mushroom farms. The method is an efficient way to distinguish the strains of P. tolaasii from other microorganisms commonly found in mushroom-growing cellars, such as V. fungicola and T. aggressivum. This is particularly important due to the fact that these organisms, in some cases, give similar symptoms of disease in mushroom crops (especially in early stages of disease development). Application of a fast and unambiguous method for pathogen identification can significantly contribute to the proper choice of disease control method.

Ograniczanie wyników

New coprological and molecular diagnosis of canine spirocercosis

Rapid identification of Borrelia by high resolution melting analysis of the groEL gene

First molecular diagnosis of lophomoniasis: the end of a controversial story

Molecular diagnosis and taxonomy of parasitic Protozoa

Leishmania infantum infection in a domestic cat: a eeal threat or an occasional finding?

Molecular diagnosis of Entamoeba spp. versus microscopy in the Great Cairo

Mutations in the methyl CpG binding protein 2 (MECP2) gene as a cause of the Rett syndrome

Usefulness of PCR method for detection of Leishmania in Poland

Evaluation of four commercial DNA extraction kits for the detection of Microsporidia and the importance of pretreatments in DNA isolation

Molecular diagnosis and pathological study of Toxoplasma gondii in aborted caprine and ovine fetuses in borderline of Iran–Iraq

Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznan Region

Molecular studies in osteogenesis imperfecta [OI] III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

Molecular diagnosis of human diseases based on direct analysis of gene transcripts

Diagnostyka molekularna niedoboru syntetazy argininobursztynianowej u bydla

Diagnostyka molekularna brunatnej plamistości pieczarki (Agaricus bisporus) wywoływanej przez bakterię Pseudomonas tolaasii