Perioperative Management of the Patient With Chromosome 6p
Duplication: A Case Report And a Narrative Review of Literature

J 2025

Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature

HUDEC, Jan; Tereza PROKOPOVÁ; Michal GALKO; Martin PRÝMEK; Martin REPKO et al.

Základní údaje

Originální název

Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature

Autoři

HUDEC, Jan; Tereza PROKOPOVÁ; Michal GALKO; Martin PRÝMEK; Martin REPKO a Roman GÁL

Vydání

Bratislava medical journal, Bratislava, Comenius University, 2025, 0006-9248

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30218 General and internal medicine

Stát vydavatele

Slovensko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.100 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00141071

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

6p duplication syndrome; Perioperative management; Total intravenous anaesthesia; Scoliosis; Case report

Štítky

14110217, 14110233, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 4. 2025 09:11, Mgr. Tereza Miškechová

Anotace

V originále

Chromosome 6p duplication syndrome represents a rare genetic disorder. About 50 patients have been described till now. The syndrome is also called trisomy 6p, and it is clinically characterized by short stature with microcephaly, mental retardation, congenital heart defects, or kidney tract anomalies. Epileptic seizures and spine deviations have also been described in a few children. Perioperative management of patients with chromosome 6p duplication can be challenging for all healthcare providers due to the multiorgan disability of the patients. To our knowledge, we report the first case of comprehensive perioperative management of patients with chromosome 6p duplication. Our case report is about a 9-year-old girl scheduled for scoliosis surgery. It discusses individual steps in the preoperative examination, surgery, and postoperative care, including preventing possible complications. This publication aims to show possible options for comprehensive perioperative management of patients with extremely rare syndrome because there are no published studies about perioperative management. Understanding the 6p duplication syndrome may improve the patient's outcome in the perioperative period.

Citovat

HUDEC, Jan; Tereza PROKOPOVÁ; Michal GALKO; Martin PRÝMEK; Martin REPKO a Roman GÁL. Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature. Bratislava medical journal. Bratislava: Comenius University, 2025, roč. 126, č. 2, s. 196-201. ISSN 0006-9248. Dostupné z: https://doi.org/10.1007/s44411-024-00012-5.

@article{2492782,
   author = {Hudec, Jan and Prokopová, Tereza and Galko, Michal and Prýmek, Martin and Repko, Martin and Gál, Roman},
   article_location = {Bratislava},
   article_number = {2},
   doi = {https://doi.org/10.1007/s44411-024-00012-5},
   keywords = {6p duplication syndrome; Perioperative management; Total intravenous anaesthesia; Scoliosis; Case report},
   language = {eng},
   issn = {0006-9248},
   journal = {Bratislava medical journal},
   title = {Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature},
   url = {https://link.springer.com/article/10.1007/s44411-024-00012-5},
   volume = {126},
   year = {2025}
}

TY  - JOUR
ID  - 2492782
AU  - Hudec, Jan - Prokopová, Tereza - Galko, Michal - Prýmek, Martin - Repko, Martin - Gál, Roman
PY  - 2025
TI  - Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature
JF  - Bratislava medical journal
VL  - 126
IS  - 2
SP  - 196-201
EP  - 196-201
PB  - Comenius University
SN  - 00069248
KW  - 6p duplication syndrome
KW  - Perioperative management
KW  - Total intravenous anaesthesia
KW  - Scoliosis
KW  - Case report
UR  - https://link.springer.com/article/10.1007/s44411-024-00012-5
N2  - Chromosome 6p duplication syndrome represents a rare genetic disorder. About 50 patients have been described till now. The syndrome is also called trisomy 6p, and it is clinically characterized by short stature with microcephaly, mental retardation, congenital heart defects, or kidney tract anomalies. Epileptic seizures and spine deviations have also been described in a few children. Perioperative management of patients with chromosome 6p duplication can be challenging for all healthcare providers due to the multiorgan disability of the patients. To our knowledge, we report the first case of comprehensive perioperative management of patients with chromosome 6p duplication. Our case report is about a 9-year-old girl scheduled for scoliosis surgery. It discusses individual steps in the preoperative examination, surgery, and postoperative care, including preventing possible complications. This publication aims to show possible options for comprehensive perioperative management of patients with extremely rare syndrome because there are no published studies about perioperative management. Understanding the 6p duplication syndrome may improve the patient's outcome in the perioperative period.
ER  -

HUDEC, Jan; Tereza PROKOPOVÁ; Michal GALKO; Martin PRÝMEK; Martin REPKO a Roman GÁL. Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature. \textit{Bratislava medical journal}. Bratislava: Comenius University, 2025, roč.~126, č.~2, s.~196-201. ISSN~0006-9248. Dostupné z: https://doi.org/10.1007/s44411-024-00012-5.

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