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This article reviews the current understanding and limitations in knowledge of the effect genetics and genetic diagnoses have on perioperative and postoperative surgical outcomes in patients with congenital heart disease (CHD).

Presence of a known genetic diagnosis seems to effect multiple significant outcome metrics in CHD surgery including length of stay, need for extracorporeal membrane oxygenation, mortality, bleeding, and heart failure. Data regarding the effects of genetics in CHD is complicated by lack of standard genetic assessment resulting in inaccurate risk stratification of patients when analyzing data. Only 30% of variation in CHD surgical outcomes are explained by currently measured variables, with 2.5% being attributed to diagnosed genetic disorders, it is thought a significant amount of the remaining outcome variation is because of unmeasured genetic factors.

Genetic diagnoses clearly have a significant effect on surgical outcomes in patients with CHD. Our current understanding is limited by lack of consistent genetic evaluation and assessment as well as evolving knowledge and discovery regarding the genetics of CHD. Standardizing genetic assessment of patients with CHD will allow for the best risk stratification and ultimate understanding of these effects.

Genetic diagnoses clearly have a significant effect on surgical outcomes in patients with CHD. Our current understanding is limited by lack of consistent genetic evaluation and assessment as well as evolving knowledge and discovery regarding the genetics of CHD. Standardizing genetic assessment of patients with CHD will allow for the best risk stratification and ultimate understanding of these effects.

Severe brain injury in children resulting in coma and disorders of consciousness (DOC) is a catastrophic event for the life and function of children and their families. The present article summarizes the recently published pediatric literature on validated diagnostic assessments, potential predictors of recovery, and outcome measures used in children with catastrophic brain injury (CBI). Literature search terms included variants of consciousness, diagnostic tests, predictors of outcome, and outcome measures.

Developmentally appropriate diagnostic tools, outcome predictors, and outcome measures are lacking for children with CBI leading to coma and DOC. Individual case prognosis relies on serial clinical examinations and experience. Evidence regarding optimal diagnosis of the highest level of consciousness and management of children with CBI is needed. #link# Global efforts through the ongoing Curing Coma Campaign are aimed at developing common data elements for information capture; streamlining the classification of coma endotypes; describing trajectories with biomarkers to monitor recovery or disease progression; and devising effective treatments for adults and children.

Standardized, developmentally appropriate diagnostic and outcome assessments for CBI in children are needed. Future research should use these content standards to update our understanding of children with CBI leading to coma and DOC, and evaluate effective practices using acute adjunctive and rehabilitation therapies.

Standardized, developmentally appropriate diagnostic and outcome assessments for CBI in children are needed. Future research should use these content standards to update our understanding of children with CBI leading to coma and DOC, and evaluate effective practices using acute adjunctive and rehabilitation therapies.

Death by neurologic criteria (DNC) is the irreversible cessation of all functions of the entire brain, including the brainstem. It is legally recognized as equivalent to cardiopulmonary death. Legal and ethical controversies surrounding DNC have emerged as a result of several highly publicized cases that have eroded public trust in our ability to declare DNC accurately. In this review, we focus on recently published primary data about DNC and address some of these controversies.

Approximately 21% of children who die in pediatric intensive care units (PICU) are declared DNC. Although 60% of physicians report that they have been asked to maintain organ support after DNC declaration, less than 1% of patients remain physically present in the PICU more than 5 days after DNC declaration. We discuss strategies for safely conducting the apnea test, indications and prevalence of ancillary testing, and objections to DNC, including issues of consent and requests for ongoing organ support.

In order to maintain public trust, published guidelines must be followed to accurately and consistently diagnose DNC. We must develop strategies to respond to objections to DNC determination. Ongoing Reparixin is needed to improve the safety of apnea testing and indications for and interpretation of ancillary testing.

In order to maintain public trust, published guidelines must be followed to accurately and consistently diagnose DNC. We must develop strategies to respond to objections to DNC determination. Ongoing research is needed to improve the safety of apnea testing and indications for and interpretation of ancillary testing.

Alpha-gal syndrome encompasses a constellation of symptoms associated with immune-mediated hypersensitivity responses to galactose-alpha-1,3-galactose (alpha-gal). The purpose of this review is to discuss our current understanding of the etiology, clinical symptoms, natural history, epidemiology, and management of alpha-gal syndrome.

Sensitization to alpha-gal is associated with bites from ectoparasites like the lone star tick Amblyomma americanum. Allergic reactions in alpha-gal syndrome are often delayed and inconsistent. The magnitude of the allergic response depends on co-factors like exercise and alcohol consumption and the amount of alpha-gal and fat present in the food. Assaying alpha-gal-specific IgE in the serum is the primary diagnostic test used to confirm the allergy. Long-term management of the condition involves avoidance of both mammalian food products and tick bites.

Alpha-gal syndrome disrupts the current paradigm for understanding food allergy. Exposure to an ectoparasite is critical for the development of specific IgE antibodies underlying sensitization, and allergic reactions depend on the activation of mast cells and basophils sensitized with IgE against a carbohydrate rather than a protein.

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