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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F25%3A00081629" target="_blank" >RIV/65269705:_____/25:00081629 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/25:00141053

Výsledek na webu

<a href="https://link.springer.com/article/10.1007/s44411-024-00012-5" target="_blank" >https://link.springer.com/article/10.1007/s44411-024-00012-5</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s44411-024-00012-5" target="_blank" >10.1007/s44411-024-00012-5</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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&apos;s outcome in the perioperative period.

Název v anglickém jazyce

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

Popis výsledku anglicky

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&apos;s outcome in the perioperative period.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30218 - General and internal medicine

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Bratislava Medical Journal-Bratislavske Lekarske Listy

ISSN

0006-9248

e-ISSN

1336-0345

Svazek periodika

126

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

6

Strana od-do

196-201

Kód UT WoS článku

001465540600013

EID výsledku v databázi Scopus

2-s2.0-85217759924