Somatic Mosaicism in Esophageal Atresia

Bednarczyk, Damian; Makowska, Izabela; Sasiadek, Maria M.; Śmigiel, Robert

doi:10.1038/ajg.2014.346

Cited by 9 publications

(6 citation statements)

References 9 publications

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“…To prevent metabolic, water-electrolyte peri-and postoperative complications, it is obligatory to perform preoperative preparation and stabilization of vital signs of a child with congenital malformations (CM). For example, the leading pathophysiological factors of homeostasis disorders in children with congenital intestinal obstruction are hypovolemia and dehydration [6,7]. Therefore, preoperative preparation is aimed at correcting hypovolemia, water-electrolyte disorders and normalization of acid-base status.…”

Section: Suggested Solution To the Problemmentioning

confidence: 99%

The Level of Indices of Ion Composition of Blood in Infants With Congenital Malformations in Surgical Correction

Vlasov¹

2021

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Newborns with severe congenital malformations need radical surgical correction as soon as possible for ensure the quality of life of the infant in the future. Pathological changes associated with the underlying pathology may be accompanied to severe disturbances of homeostasis in the postoperative period. The aim of the study. To assess the level of ionic composition of plasma in infants with congenital malformations during surgical correction and various types of combined anesthesia. Investigated problem: To prevent electrolyte peri- and postoperative complications, it is obligatory to perform preoperative preparation and stabilization of laboratory parameters, for a child with congenital malformations and to monitor they throughout the operation. The main scientific results: The electrolyte composition in the examined groups of infants did not show significant differences from age norms. The concentration of potassium was the lowest in group III of the examined in comparison with groups I and II at the stage of preparation for surgery (p=0.0041; p=0.0102), induction of anesthesia (p=0.0053; p=0.0054), while children of groups I and II were diagnosed with a tendency to the upper limit of normal serum potassium levels during all observation periods. Elevated sodium levels were diagnosed in group III at all stages of surgical treatment and in group II of infants with congenital malformations at the stage of the most painful and traumatic moment of surgery (159.94±4.89 – II, 139.27±3.043 – III, p=0.1857). The area of practical use of the research results: pediatric anesthesiology Innovative technological product: laboratory control Scope of the innovative technological product: neonatal intensive care unit, surgery

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Section: Suggested Solution To the Problemmentioning

confidence: 99%

The Level of Indices of Ion Composition of Blood in Infants With Congenital Malformations in Surgical Correction

Vlasov¹

2021

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“…На тлі важкої основної, супутньої патології у дітей з ВВР виникають ускладнення у вигляді гіпоксемії органів і тканин, артеріальної гіпотензії та зниження серцевого викиду під час анестезії у зв'язку з впливом знеболюючих ліків на дихальний центр і/або повного виключення дихання дитини, а також у зв'язку з поганою еластичністю шлуночків серця, неадекватною реакцією симпатичної нервової системи, підвищенням сприйнятливості до дії міокардіодепресантів на інгаляційні анестетики [3,4]. Як наслідок, у новонароджених і немовлят хірургічні втручання можуть призвести до катаболічного стресу, розладів кровообiгу, дихання, метаболiзму, водно-електролітного, білкового об-міну, що відображається на відповідних показниках.…”

Section: вступunclassified

Clinical Assessment of the Acid-Basic State and Individual Indicators in Children With Congenital Surgical Pathology Under Different Types of Anesthesia

Vlasov¹

2021

Neonatol. hìr. perinat. med.

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Introduction. Congenital malformations are morecommon in newborns and require surgical correction againstthe background of severe perinatal diseases, which leadsto catabolic stress, circulatory and respiratory disorders,metabolic disorders, disorders of water-electrolyte, proteinand acid-base states.Aim of the study. To establish the dynamics of acidbase status and some clinical indicators in newborns andinfants with congenital pathology under different types ofanesthesia during surgical treatment.Material and research methods. A retrospective studyincluded 150 newborns and infants with congenital malformationsof the surgical profile, depending on the anesthesia (inhalation +regional anesthesia; inhalation + intravenous anesthesia andtotal intravenous). The indicators of the acid-base state,peripheral oximetry, and the need for the oxygen mixtureinhaled by an infant were analyzed.Results. When assessing the indicators of PvCO2, pH,it was found that in group I with anesthesia accompaniedby inhalation and regional anesthesia, the partial tensionof CO2was reduced and the pH was increased at all stages.Peripheral saturation was not critically reduced during theobservation, except for the obtained decrease in children ofgroup I compared with group III at the stage of inductionof anesthesia (97.79 ± 2.45 vs. 98.79 ± 1.63, at p = 0.0194,respectively). ) and at the most painful moment of surgery(96.29 ± 3.47 vs. 98.10 ± 2.47, at p = 0.0368). Newbornsand infants required higher concentrations of oxygen inthe inhalation mixture during inhalation and regionalanesthesia. There was a significant difference between theI and III groups during the most painful stage - 0.47 ± 0.29and 0.33 ± 0.2, at p = 0.0071, respectively, and immediatelyafter surgery - 0.34 ± 0, 19 and 0.26 ± 0.13, at p = 0.0246,respectively.Conclusion. Among the examined groups, the mostvulnerable to pathological changes were children whowere provided with anesthesia by inhalation sevoran withregional anesthesia.

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“…Recently, Bednarczyk et al reported the presence of five different copy number variants detected in esophageal tissue but not detectable in blood in a patient fulfilling criteria for VACTERL association (114). Studies of heart malformations investigating genetic mosaicism for specific genetic causes using other methods such as DNA sequencing, MLPA and FISH have been published (115)(116)(117)(118)(119)(120)(121)(122)(123)(124)(125)(126)(127)(128)(129)(130).…”

Section: Mosaicism and Chimerism In Patients With Congenital Malformamentioning

confidence: 99%

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

Winberg

Berggren

Malm³

et al. 2015

European Journal of Medical Genetics

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Somatic Mosaicism in Esophageal Atresia

Cited by 9 publications

References 9 publications

The Level of Indices of Ion Composition of Blood in Infants With Congenital Malformations in Surgical Correction

The Level of Indices of Ion Composition of Blood in Infants With Congenital Malformations in Surgical Correction

Clinical Assessment of the Acid-Basic State and Individual Indicators in Children With Congenital Surgical Pathology Under Different Types of Anesthesia

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

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