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Časopis Paediatrics – Článok Smith-lemli-opitz syndrome – an approach to the clinical, biochemical and molecular diagnosis

Paediatrics

Scientific medical journal.
Period 6x per year
ISSN 1336-863X
OWNERSHIP AND MANAGEMENT: A-medi management s.r.o, Bárdošova 2, 831 01 Bratislava, Slovak Republic. 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. Authors stated that there is no conflict of interest.
Predplatné
Paediatrics
Paediatrics
Scientific medical journal.
Period 6x per year
Predplatné
Téma: Original papers

Smith-lemli-opitz syndrome – an approach to the clinical, biochemical and molecular diagnosis

Vladimír Bzdúch1, Darina Behúlová2, Jozefína Škodová2, Martina Skokňová1, Libor Kozák†

Smith-Lemli-Opitz syndrome (SLOS) is autosomal recessive metabolic-malformation syndrome, caused by a deficiency of 7-dehydrocholesterol reductase affecting the last step of cholesterol biosynthesis. SLOS appears to be most frequent in central European populations (1 : 15-20,000). The clinical diagnosis of SLOS cannot always be made with certainty because of the remarkable variability of clinical phenotype. The discovery of primary defect of cholesterol biosynthesis had important implication for exact diagnosis of patients with SLOS. Biochemical diagnosis of SLOS is now confirmed by gas chromatography/mass spectrometry by finding low serum cholesterol and its abnormally high precursors 7- and 8-dehydro-cholesterol levels. The ultraviolet spectrophotometry determination of serum sterols with 7-dehydrocholesterol accumulation is a reliable and cheap test for screening SLOS. Two techniques, polymerase chain reaction together with restriction analysis (PCR/RFLP) and sequencing are used to detect mutations in the DHCR7 gene.

Smith-Lemli-Opitz syndrome, clinical diagnosis, biochemical diagnosis, molecular diagnosis, ultraviolet spectrophometry, hypocholesterolaemia, 7-dehydrocholesterol
Pediatria (Bratisl.) 2013; 8 (3): 149-154

Ročník 2013  Témy časopisu Paediatrics 3 / 2013

Review papers

Miroslav Šašinka, Katarína Furková
Miloš Jeseňák1, Peter Bánovčin1, Iveta Plavnická1, Jana Straková2
Veronika Hovancová1, Monika Maligec1, Kamila Trebuňová1, Milan Kuchta1, Eva Bálintová1, Marcel Zachar2, Ján Lepej3
Iveta Ondriová, Anna Sinaiová

Original papers

Vladimír Bzdúch1, Darina Behúlová2, Jozefína Škodová2, Martina Skokňová1, Libor Kozák†

Case reports

Andrea Sihelská, Ján Novotný, Marián Vidiščák, Erich Murár
Nie sú dostupné žiadne voľne dostupné články
EDITOR IN CHIEF
prof. Peter Banovcin, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Pediatrics; Head of Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Head of Center of Excellence for Experimental and Clinical Research in Respirology; Martin Slovakia

VICE EDITOR IN CHIEF
assoc. prof. Milos Jesenak, MD., MSc., Ph.D., MBA, Dott.Ric., MHA: Head of Center for diagnosis and treatment of primary immunodeficiencies, Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia

SCIENTIFIC EDITORS
assoc. prof. Mario Barreto, MD., PhD: Department of Pediatrics, 2nd Faculty of Medicine, University La Sapienza, St. Andrew’s Hospital, Rome; Italy
assoc. prof. Vladimir Bzduch, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
dr. n. med. Joachim Buchvald, Ph.D.: Head of Department of Pediatric Pulmonology and Cystic Fibrosis; Rabka-Zdroj, Poland
assoc. prof. Miriam Ciljakova, MD., Ph.D.: Head of Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
assoc. prof. Milan Dragula, MD., Ph.D.: Head of Department of Pediatric Surgery, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
ass. prof. Peter Durdik, MD., Ph.D.: Head of Division of Pediatric Pulmonology, Department Pediatrics, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
assoc. prof. Katarina Furkova, MD., Ph.D.: Head of the Department of Pediatrics, Vice-dean of Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
prof. dr. med. Janusz Haluszka, MD., Ph.D.: Head of Institute of Public Health, Medical College, Jagellonian University; Krakow, Poland
ass. prof. Zuzana Havlicekova, MD., Ph.D.: Head of Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics of Jessenius Faculty of Medicine of Comenius University in Bratislava; University Hospital Martin; Martin, Slovakia
Marian Hrebik, MD., Ph.D., MPH: Head of Pediatric Cardiology Center, Comenius University in Bratislava; Bratislava, Slovakia
prof. Hana Hrstkova, MD., Ph.D.: Department of Pediatrics, University Teaching Hospital in Brno, University of Masaryk in Brno; Brno, Czech republic
prof. Henrieta Hudeckova, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Epidemiology, Head of Department of Public Health, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
assoc. prof. Lubica Jakusova, MD., Ph.D.: Department of Pediatrics, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia
assoc. prof. Emilia Kaiserova, MD., Ph.D.: Head of Department of Pediatric Hematology and Oncology, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
assoc. prof. Ludmila Kostalova, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University Bratislava; Slovakia
prof. Karol Kralinsky, MD., Ph.D.: Head of Department of Pediatrics, Head of Department of Pediatric Intensive Care, Children Teaching Hospital in Banska Bystrica, Slovak Medical University; Banska Bystrica, Slovakia
prof. Zuzana Kristufkova, MD., Ph.D., MPH: Head of Department of Public Health, Vice-dean of Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
assoc. prof. Milan Kuchta, MD., Ph.D.: President of Slovak Pediatric Society, Department of Pediatrics, Children Teaching Hospital in Kosice, University of Pavol Jozef Safarik; Kosice, Slovakia
prof. Jozef Masura, MD., Ph.D., FSCAI: Head of Interventional and Diagnostic Pediatric Cardiology, National Institute for Heart and Vascular Diseases, Pediatric Cardiology Center, Comenius University in Bratislava; Bratislava, Slovakia
prof. Vladimír Mihal, MD., Ph.D.: Head of Department of Pediatrics, Faculty Teaching Hospital in Olomouc, University of Palacky; Olomouc, Czech Republic
assoc. prof. Slavomir Nosal, MD., Ph.D.: Head of Department of Pediatric Intensive Care Unit, University Hospital Martin, Jessenius Faculty of Medicine of Comenius University in Bratislava; Martin, Slovakia
prof. MUDr. Petr Pohunek, CSc.: Head of Department of Pediatric Pulmonology, Department of Pediatrics, 2nd Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic
Elena Prokopova, MD.: Senior specialist of the Ministry of Health in the Slovak Republic for Pediatric Primary Care, Out-patient clinic for children and adolescent; Bratislava, Slovakia
prof. Roman Prymula, MD., Ph.D.: Department of Epidemiology, University of Defense; Hradec Kralove, Czech Republic
ass. prof. Zuzana Rennerova Bohmerova, MD., Ph.D.: Department of Pediatric Pulmonology, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University in Bratislava; Slovakia
prof. Tibor Sagat, MD., Ph.D.: Department of Pediatric Intensive Care Unit, Children Teaching Hospital in Bratislava, Faculty of Medicine of Comenius University in Bratislava; Bratislava, Slovakia
prof. Miroslav Sasinka, MD., DSc.: Department of Pediatrics, Faculty of Medicine of Slovak Medical University; Bratislava, Slovakia
Marta Spanikova, MD.: President of Slovak Society of Primary Pediatric Care, Out-patient clinic for children and adolescent; Bratislava, Slovakia
assoc. prof. Veronika Vargova, MD., Ph.D.: Department of Pediatrics, Children Teaching Hospital in Kosice, University of Pavol Jozef Safarik; Kosice, Slovakia
prof. Maria Pia Villa, MD., Ph.D.: Head of Department of Pediatrics, 2nd Faculty of Medicine, University La Sapienza, St. Andrew’s Hospital, Rome; Italy
prof. Mirko Zibolen, MD., Ph.D.: Senior specialist of the Ministry of Health in the Slovak Republic for Neonatology; Head of Department of Neonatology, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital Martin; Martin, Slovakia

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

GRAPHIC LAYOUT AND TYPESETTING
Veronika Malgotová
e-mail: dtp2@amedi.sk

MARKETING MANAGER
Ing. Dana Chodasová
mobile: 0903 224 625
e-mail: marketing@amedi.sk

ECONOMY AND SUBSCRIPTIONS
Ing. Mária Štecková
telefón: 02/55 64 72 48
mobile: 0911 117 949
e-mail: ekonom@amedi.sk

PROFESSIONAL PROOFREADING
prof. MUDr. Miroslav Šašinka, DrSc.

LANGUAGE PROOFREADING
Mgr. Eva Doktorová

TRANSLATIONS OF ENGLISH TEXTS
Ing. Janka Bábelová, PhD.

PUBLISHER
A-medi management, s.r.o.
Jarosova 1, 831 03 Bratislava
IČO: 44057717
telephone-fax: 02/55 64 72 47
e-mail: amedi@amedi.sk, www.amedi.sk

Pediatria (Bratislava)
ISSN 1336-863X

INTRUCTIONS FOR AUTHORS

Pediatria (Bratislava) is a bimonthly peer-reviewed scientific journal published in both printed and on-line versions. There are 6 issues per year with irregular supplemental issues (e.g. proceedings from scientific meetings). The journal published reports (Original papers, Review papers, Case reports, Diagnostic and therapeutic algorithms, Letters to Editor, Miscellaneous) on all aspects and areas from paediatrics and related areas of the medicine. The journal applies all the necessary procedures ensuring the originality of the manuscripts according to the Universal Requirements for Manuscripts Submitted to the Biomedical Journals, prepared by the International Committee of Medical Journal Editors (ICMJE) and WAME (World Association of Medical Editors).
All the authors and co-authors should significantly contribute to the research and work. Authors have to declare any conflict of interests in relationship with the submitted and later published accepted work. Manuscripts sould be submitted with the understanding that they have neither been published, nor are under consideration for publication elsewhere (except in the form of an abstract). Authors should state this fact in the accompanying Cover letter. Accepted and published manuscripts become the sole property of the Journal and will be copyrighted by A-Medi managements, Ltd. By submitting a paper to the journal, the author(s) agree(s) to each ot the above stated conditions. After the acceptance of the manuscript, author(s) will receive Copyright Agreement Form, which should be signed by all the authors and send back to the journal before the publication of the paper.

GENERAL MANUSCRIPT REQUIREMENTS

Title page:
• Brief, clear and informative title (brand names and abbreviations should not be used in the title)
• Full names of all the authors together with their academic titles
• Affiliations of all the authors with full address of the institution
• Corresponding author’s full address, email address, phone number and fax number
• 3-6 key words for indexing purposes
• Funding sources of the work (if applicable)
• Statement about the conflict of interests for all the authors. In case that there is no conflict of interests, the phrase “Authors declare that there is no conflict of interests in any of them” should be written.
Summary:
• Summary should consist of 200-250 words
• For Review papers and Case Reports - unstructured summary
• For original papers – Summary should be divided into Background/Objectives, Material/Subjects and Methods, Results and Conclusions.
• The abbreviations should be used in Summary to the lowest extent and they should be explained at the first mention in the text.
• Brand names of the medicaments have to be avoided in the Summary.
Tables and Figures:
• Tables should be self-explanatory and understandable without the text. They should nnot duplicate the data presented in the text.
• Do not insert the figures into the text. They should be sent as a separated file in the "jpg" format.
• Graphs should be created in Excel and send separately.
• Tables should be sent also separately. One table per one page with the number and title above the table and with legend under (if applicable).
• Original photographs could be also send in high-resolution quality (at least 300 dpi). They should be accompanied with the informed consent of the subjects presented on the photo.
• All the figures, graphs and tables should be cited in the text of the manuscript. Mark each original by a number, under which it is mentioned in the text.
• The maximum number of the figures, graphs, tables and photos should be 6 per manuscript.
• Tables, graphs and figures should be labeled sequentially (1, 2, 3, etc.) and cited chronologically in the text.
Acknowledgements:
• All the collaborators and contributors who do not fulfil the criteria for authorship should be listed in this section.
Language:
• The manuscripts and contributions should be written in Slovak, Czech or English language.
• In case of Slovak and Czech language of the manuscript, the submission should contain English translation of the Title, Summary and Key words in a separate file.
General rules:
• 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 the text into columns - do not do page make-up.
• Distinguish precisely numbers 1, 0 and letters l, O.
• Use always parentheses ( ).
• Explain abbreviations always when first used.

ARTICLES TYPE

REVIEW PAPERS
The review papers are focused on the latest knowledge on disease and disease groups’ etiology, pathogenesis, diagnoses and therapy. Maximum length is 7 pages of text (font Times New Roman, font size 12, line spacing 1.5). Do not arrange the text into columns - do not do page make-up. Figures, graphs and tables should be sent separately. 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 paediatricians.

ORIGINAL PAPERS
An original paper brings scientific elaboration of studied issues. It is divided into usual parts together with a structured summary. If it is an original paper, a structured summary with five parts is required:
• Background/Objectives: Briefly (2 - 3 sentences) state the knowledge, or its possible drawbacks, from which authors initially started conceptual framework of their work.
• Material/Subjects: Accurately, in numerical values characterize the examined and control group (age, sex, examined samples, numerical values; patients are not material but subjects)
• Methods: Define concisely used methods; equipment and processes. The material and methods might be joined if needed.
• Results: Present and summarize the most important results of the study though the concrete numerical values and statistical power.
• Conclusions: To state clearly new knowledge, which the work brought and their importance for practice or scientific progression.
• At the end of summary it is necessary to put Key words on a separate line in the extent of 3 - 6 words.
Original paper is divided into standard sections: Introduction, Material/Subjects and Methods, Results and Conclusions.

CASE REPORT STUDIES:
Maximum extent is 5 pages. Structuring: summary, introduction, case study, discussion, conclusions, bibliography. Only case reports bringing and showing some new interesting facts or data could be published.

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

MISCELLANEOUS
Reaction to review papers, published manuscripts, news in the field of diagnostics, therapy, trial results (maximum 3 pages), reports from professional events and congresses, reviews of the recently published books not older than 1 year. Maximum extent is 1 page. Write the title of the paper in Slovak/Czech, authors, affiliation, and then title of the paper in English with full citation.

REFERENCES:

• References are ordered alphabetically according to the surname of the first author.
• References in the text are stated by the number of citations in parentheses.
• Use maximum of 25 citations, especially from last 5 years.
• All authors have to be stated in citations. Do not use the abbreviation "et al".

Examples of citations:
Book:
BRISCOE M.H., CLARK T.J., SIMONCELI G.H., DEVILD P.S. Preparing scientific illustrations? A guide to better posters, presentations and publications. 2nd Ed. New York: Springer-Verlag, 1996, 217 pp.
KOLLMANOVÁ S., BUBENÍKOVÁ L. Atlas medicínskych ilustrácii. 5. vyd. Martin: Osveta, 2001, 205 s.
Book chapter:
OSBORNE B.E. The electrocardiogram of the rat. In: BUDDEN R.,DETWEIERD K., ZBINDEN G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Thorax, 53, 1981, p. 15-27.
Journal articles:
BURNARD, P. Writing for publication: a guide for those who must. Nurse Educ Today, 17, 1999, p. 208-212.
ČERVEŇOVÁ, O., POLÁK, V., VICIANOVÁ, K. Sríning a liečebné postupy anomálii uropoetického systému v novorodeneckom veku. Pediatria (Bratisl.), 48, 1993, s. 233-236.
Web sources:
CARROLL, L. Exploring genes and genetic disorders [online]. Nov. 2004 [cit. 2005-02-10]. Available:[http://www.germany.eu.net/books/alice/html].

PEER-REVIEW PROCESS

Pediatria (Bratislava) is committed to peer-review integrity and ensures the highest standard of review process. After the evaluation of the suitability of the paper for this journal by the Editor, a double-blind peer-review process is initiated. Peer-review process is provided at least by two independent and anonymous expert reviewers according to the standard evaluation criteria. The reviewers are unaware of the identity of the authors, and viceversa, the authors are unaware of the identity of the reviewers. Review manuscripts are treated confidentionally prior their publications. Their recommendations are evaluated by Editors and the final decision (accept as written, accept after minor revision, accept after major revision and elaboration, or reject) is send to the authors. The revision of the paper is expected within two weeks. All the changes should be highlighted in the text (i tis possible to use the tracking tools). The submission of the revised version have to be accompanied by Cover letter with the reactions and responses of the authors point-by-point to the referees‘ reports. All the papers after the acceptance are edited, proof is send to the corresponding author for the final corrections and approval and than all the papers are available on the Journal’s webpage free of charge: http://www.amedi.sk/uvod.html.

PUBLICATION FEES

The papers accepted for publication in Pediatria (Bratisl.) after sucessful peer-review process are published free of charge. The editorial board reserved to make small stylistic changed in the paper.

All the contributions should be sent by e-mail to: stachova@amedi.sk
A confirmation of the manuscript receivement will be send to the corresponding author soonly after the submission.

Period 6x per year
ISSN 1336-863X
OWNERSHIP AND MANAGEMENT: A-medi management s.r.o, Bárdošova 2, 831 01 Bratislava, Slovak Republic. 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. Authors stated that there is no conflict of interest.
Predplatné
Paediatrics
Paediatrics
Scientific medical journal.
Period 6x per year
Predplatné