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Časopis Neurology – Článok Pompe disease (glycogenosis type ii) – pathogenesis, clinical presentation and new trends in diagnosis and treatment

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma: Overview works

Pompe disease (glycogenosis type ii) – pathogenesis, clinical presentation and new trends in diagnosis and treatment

Peter Špalek

Pompe disease is a rare autosomal recessive, progressive, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase. It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. In general, there is a good corelation between the severity of residual enzyme activity and the severity of clinical phenotype. Classical infantile form (early-onset) has no enzyme activity and is associated with severe muscle weakness, cardiomyopathy, respiratory failure and death occurs usually within the first year. Late-onset Pompe disease has some residual α-glucosidase activity. The clinical hallmark of adult-onset α-glucosidase deficiency is slowly progressive myopathy. However, some adult forms present with certain phenotypic diversity. The course of adult-onset form was usually progressive, disabling and often fatal. Determination of deficient α-glucosidase activity in a dried blood spot provides a rapid and reliable diagnostic method for Pompe disease, especially as the initial screening test. The diagnosis of Pompe disease is definitively confirmed by measurement of decreased enzyme activity in leukocytes, cultures of fibroblasts or muscle tissue. Pompe disease can be diagnosed also by DNA testing, verification of respective mutation in the gene for acid alfa-glucosidase. There was no treatment for Pompe disease until recently. The recent development of recombinant α-glucosidase has dramatically improved the life expectancy and quality of life with improvements of muscle motor and muscle respiratory functions in all forms of Pompe disease. This article focuses on the pathogenesis, clinical presentation, diagnosis and enzyme replacement therapy for Pompe disease.

Pompe disease, α-glucosidase deficiency, muscle weakness, diagnosis, measurement of α-glucosidase activity, mutation analysis, enzyme replacement therapy with recombinant human α-glucosidase
Neurológia 2013; 8 (3): 153-159

Ročník 2013  Témy časopisu Neurology 3 / 2013

Overview works

Darina Petrleničová, Ľubica Procházková
Petr Kelbich1,2,6,9, Aleš Hejčl3,7,8,10, Jan Procházka4, Peter Čuchran5, Eva Hanuljaková2,9,12, Jitka Peruthová1,9,11, Martina Koudelková9
Ján Necpál
Stanislav Šutovský1, Pavol Šiška1, Branislav Kollár1, Pavol Šiarnik1, Martina Kováčová2, Peter Turčáni1
Stanislav Šutovský1, Róbert Petrovič2, Pavol Šiarnik1, Branislav Kollár1, Adriana Reptová3, Peter Turčáni1
Pavel Šiarnik, Helena Wágnerová, Zuzana Čarnická, Lucia Krížová, Stanislav Šutovský, Branislav Kollár, Peter Turčáni
Peter Špalek

Case Studies

Monika Virágová1, Zuzana Dean1, Marta Miklošková1, Dáša Viszlayová1, Mária Göböová2, Tibor Göbö1, Gabriel Hajaš1, Eva Gregorovičová1, Branislav Veselý1, Andrea Petrovičová1
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Nie sú dostupné žiadne voľne dostupné články
CHAIRMAN OF THE EDITORIAL BOARD
doc. MUDr. Miroslav Brozman, CSc.

MEMBERS OF THE EDITORIAL BOARD
MUDr. František Cibulčík, CSc.
doc. MUDr. Eleonóra Klímová, CSc.
doc. MUDr. Pavol Kučera, PhD.
MUDr. Marian Kuchar, PhD.
doc. MUDr. Robert Mikulík,Ph.D., FESO
MUDr. Vladimír Nosáľ, PhD.
MUDr. Ľubica Procházková, CSc.
prof. MUDr. Bruno Rudinský, CSc.
doc. MUDr. Daniel Šaňák, Ph.D.
doc. MUDr. David Školoudík, Ph.D., FESO
prof. MUDr. Karel Šonka, DrSc.
doc. MUDr. Peter Špalek, PhD.
Dr. Milan R. Voško, PhD.

EDITOR-IN-CHIEF
Eva Stachová
e-mail: stachova@amedi.sk

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SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 7 pages (font size 12, line spacing 1.5) with maximum 6 pictures (graphs). In case of more extensive theme elaboration it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for neurologists.

CASE STUDY
Maximum extent is 7 pages. Structuring: summary, introduction, case study, discussion, conclusion, bibliography.

DIAGNOSTIC AND THERAPEUTICAL ALGORITHMS
Diagnosis and therapy processed into tables and schemes, with minimum text, with emphasis on conciseness and clarity.

MISCELLANEOUS
Reaction to overview articles, news in the field of diagnostics, therapy, trial results (maximum 3 pages), reports from professional events, abstracts from scientific work published abroad, not older than 1 year. Maximum extent is 1 page. Write the title of the paper in Slovak/Czech, authors, workplace, then title of the paper in English with full citation.

APPENDIX - GENERAL MEDICINE
Intersectional theme elaborated complexly, well-arranged, clear (extent up to 12 pages).


MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
- write full length of lines (do not use ENTER at the end of a line)
- - do not arrange text into columns
- - do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.
2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and Appendices - General Medicine). Write in 1st or 3rd person singular or plural (unify according the type of an article).
3. Key words - in the extent of 3-6 (only for overview papers and Appendices - General Medicine).
4. English translation: paper title, summary, key words (only at overview papers, and Appendices - General Medicine)
5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).
6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

Examples of citations:
1. Pitt B, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 1999; 341: 709-717.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
5. Osborne BE. The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.:

Which of following factors is not related to rosacea?
a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor

The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are reviewed.

All published papers are paid.

Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-patient neurological practice.

Send contributions in the e-mail to the address: stachova@amedi.sk
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné