Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.

BACKGROUND: Dominant gamma-smooth muscle actin gene (ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. The pathology of ACTG2-variant visceral myopathy has not been evaluated systematically. METHODS: Glass slides, ultrastructural images, molecular genetic reports, and clinical records from 16 patients with pathogenic (15) or likely pathogenic (1) ACTG2 variants were reviewed and compared with surgical specimens from controls (no evidence of a primary myopathy or pseudo-obstruction due to Hirschsprung disease) and published descriptions. RESULTS: The variable clinical manifestations in our cohort matched those in the literature. Only non-specific light and electron microscopic findings observed in non-myopathic controls were encountered in 13 of 16 patients. The remaining 3 patients harbored hyalinized cytoplasmic inclusions in smooth muscle cells and 1 of them had polyglucosan bodies in the muscularis propria. CONCLUSIONS: Apart from hyalinized inclusions, which were only observed in 3/16 patients, intestinal pathology in the majority of patients with ACTG2 variants is not indicative of an underlying visceral myopathy. Molecular testing should be considered even when no diagnostic intestinal pathology is identified.

The ethics of informed consent and shared decision-making in pediatric surgery.

Informed consent is a required feature in the practice of pediatric surgery. Surgeons cannot practice the trade without it and most of us learned to do it as part of our "apprenticeship" in surgical training. We were bystanders when the senior resident or attending spoke to the patient and family and we were silent witnesses to the signing of the document called a "consent." Intentional instruction about informed consent is rudimentary in most residencies. By the time we become surgical fellows, it is assumed that we have the requisite skill set to perform this "task" so we can get on with what we like to do best; operating. For many, it is viewed as a perfunctory step which, if done properly, will comply with hospital policies, might someday be exhibited during medical litigation, and ultimately it will occupy a tiny bit of memory in the hospital EMR system. However, this "thing" called the informed consent is much more than an item on a pre-op check list. The re-branding of the term "informed consent" into "shared decision-making" underscores the "re-evolution" that has occurred in thought and practice from the act of obtaining an individual's permission for treatment toward the process leading up to that act.1 It reflects some of our most important ethical values in healthcare and is still the source of scholarly inquiry and controversy. In this paper, the terms "informed consent" and "shared decision-making" will be used interchangeably but the intention is focused on the process of how physicians and their patients make choices together. If you have not thought about this topic recently, I encourage you to take a moment and explore some of the interesting and challenging questions which are still unanswered. Although the ethical principles underlying informed consent are shared by adult and pediatric medicine, there are many aspects which are unique to the medical care of children. This article highlights some of those challenges and controversies illustrated by two case studies and viewed through the lens of bioethics.

Ethics and multiculturalism in pediatric surgery.

The concept of culture includes many defining characteristics such race, ethnicity, gender, identity, socioeconomic status, beliefs, traditions, and habits. Multiculturalism is a concept that allows for respect, understanding and acknowledgement of a diversity of identities. The cases discussed in this manuscript indicate the importance of multiculturalism in the practice of pediatric surgery.

Emerging issues in the ethical utilization of pediatric extracorporeal membrane oxygenation.

PURPOSE OF REVIEW: As we have refined our extracorporeal membrane oxygenation (ECMO) capabilities and enhanced our ability to care for children with illnesses previously deemed lethal, the patient populations for whom ECMO is a medically appropriate intervention have expanded. Such expansion has prompted consideration of evolving ethical issues. In this review, we highlight several of the emerging ethical issues in pediatric ECMO. RECENT FINDINGS: Expansion of ECMO into increasingly diverse pediatric populations has prompted several ethical questions. First, some have found that there are specific clinical settings in which ECMO ought to be obligatory. Second, expanded use of ECMO may prompt disagreements among healthcare providers or between providers and family members regarding decisions about decannulation. Finally, analysis of the ethical challenges associated with integration of other disruptive healthcare modalities into patient care, will allow us insight into how to assure ethical expansion of pediatric ECMO. SUMMARY: Expansion of pediatric ECMO highlights several ethical issues including whether ECMO is ever ethically obligatory, how to ethically decannulate a patient when survival is deemed unlikely, and how to guide expansion of pediatric ECMO based upon lessons learned from the implementation of other disruptive healthcare interventions into practice.

Paradigm Shifts in the Treatment of Appendicitis.

Acute appendicitis is the most common cause of emergent surgery in children. Historically, surgical dogma dictated emergent appendectomy due to concern for impending perforation. Recently, however, there has been a paradigm shift in both the understanding of its pathophysiology as well as its treatment to more nonoperative management. No longer is it considered a spectrum from uncomplicated appendicitis inevitably progressing to complicated appendicitis over time. Rather, uncomplicated and complicated appendicitis are now considered two distinct pathophysiologic entities. This change requires not only educating the patients and their families but also the general practitioners who will be managing treatment expectations and caring for patients long term. In this article, we review the pathophysiology of appendicitis, including the differentiation between uncomplicated and complicated appendicitis, as well as the new treatment paradigms. [Pediatr Ann. 2016;45(7):e235-e240.].