Family Occurrence of an m.3303C>T Point Mutation in the Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the gene, which was also present in their oligosymptomatic mother and their mother's sister, an asymptomatic carrier.

Repair of congenital diaphragmatic hernia on extracorporeal membrane oxygenation - observations of a paediatric surgeon.

Introduction: Congenital diaphragmatic hernia (CDH) is a defect involving herniation of the abdominal organs into the pleural cavity through an incompletely closed diaphragm. This defect is also accompanied by various types of pulmonary and bronchial hypoplasia and serious anomalies in the pulmonary vascular bed and pulmonary hypertension. Extracorporeal membrane oxygenation (ECMO) is used in extreme cases resistant to standard treatment.

Small prenatal diameter of the ascending aorta is associated with increased mortality risk in neonates with congenital diaphragmatic hernia.

Introduction: The aim of this study was to evaluate whether selected prenatal markers obtained from fetal echocardiography can predict postnatal outcome in congenital diaphragmatic hernia (CDH) patients. We also aimed to verify the prognostic value of lung-to-head ratio (LHR).

Material And Methods: The study group included 29 fetuses with CDH.

Procedural Pain Assessment in Infants Without Analgosedation: Comparison of Newborn Infant Parasympathetic Evaluation and Skin Conductance Activity - A Pilot Study.

New technologies to measure pain responses, such as heart rate variability and skin conductance hold promise in the development of tools that can be reliable and quantifiable of detecting pain. The main objective of this study was to assess the capability of two monitors i.e.

Newborn infant parasympathetic evaluation for the assessment of analgosedation adequacy in infants treated by mechanical ventilation - a multicenter pilot study.

Introduction: Adequate analgosedation is important in infants treated in pediatric/neonatal intensive care units (P/NICUs), because both too deep and insufficient analgosedation is disadvantageous. To assess the severity of pain, several behavioral and behavioral-physiological scales are used, but their usefulness is limited. It is therefore justified to search for additional methods to assess the adequacy of analgosedation in these patients.