Barriers and facilitators to screening for intimate partner violence at a level 1 trauma center.

Background: Intimate partner violence (IPV) is a significant public health problem that is associated with substantial health sequelae, including traumatic injury. Surgical professional societies recommend universal intimate partner violence screening in patients presenting after trauma, but this recommendation is not uniformly implemented. We designed and implemented a quality improvement project at our institution in July 2020 to enhance intimate partner violence screening.

Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus.

Prenatal somatic cell gene therapy (PSCGT) could potentially treat severe, early-onset genetic disorders such as spinal muscular atrophy (SMA) or muscular dystrophy. Given the approval of adeno-associated virus serotype 9 (AAV9) vectors in infants with SMA by the U.S.

Screening for Intimate Partner Violence in Trauma: Results of a Quality Improvement Project.

Introduction: Intimate partner violence (IPV) is common, especially among patients presenting with traumatic injury. We implemented an IPV screening program for patients admitted after trauma. We sought to determine whether specific demographic or clinical characteristics were associated with being screened or not screened for IPV and with IPV screen results.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings.

In Utero Therapy for Congenital Diaphragmatic Hernia.

Congenital diaphragmatic hernia is an anomaly that is often prenatally diagnosed and spans a wide spectrum of disease, with high morbidity and mortality associated with fetuses with severe defects. Congenital diaphragmatic hernia is thus an ideal target for fetal intervention. We review the literature on prenatal diagnosis, describe the history of fetal intervention for congenital diaphragmatic hernia, and discuss fetal endoscopic tracheal occlusion and the Tracheal Occlusion To Accelerate Lung growth trial results.

Robotic transanal excision of rectal lesions: expert perspective and literature review.

Transanal excision of benign lesions, moderately or well-differentiated rectal T1 adenocarcinomas is typically completed via transanal endoscopic microsurgery (TEM) or laparoscopic transanal minimally invasive surgery (TAMIS). Robotic platforms provide ergonomic comfort in an enclosed space, enhanced range of motion, and superior 3D visualization. This study sought to perform a literature review of robotic TAMIS (R-TAMIS) and provide expert commentary on the technique.

Survey of intrauterine red blood cell (RBC) transfusion practices in the United States.

Background: A paucity of data exists about the current practice of fetal red blood cell (RBC) transfusion in the United States (US). This investigation describes intrauterine transfusion (IUT) RBC product selection and processing practices at different US institutions.

Methods: A transfusion medicine and maternal-fetal medicine (MFM) team designed a survey to interrogate and characterize RBCs utilized for IUT.

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.

Objective: In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.

Methods: A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA.

Robotic repair of perineal hernias: a video vignette and review of the literature.

Background: Perineal hernias can be secondarily acquired following abdominoperineal resection of the rectum. While transabdominal minimally invasive techniques have traditionally used laparoscopy, there are few studies published on the robotic platform, which has been gaining popularity for other types of hernia repairs. We review the existing literature, share a video vignette, and provide practical tips for surgeons interested in adopting this approach.

Comparison of advanced techniques for local excision of rectal lesions: a case series.

Background: Robotic transanal minimally invasive surgery (R-TAMIS) is an appealing alternative to transanal minimally invasive surgery (TAMIS) and transanal endoscopic microsurgery (TEM) for benign and early malignant rectal lesions that are not amenable to traditional open transanal excision. However, no studies to our knowledge have directly compared the three techniques. This study sought to compare peri-operative and pathologic outcomes of the three approaches.

Young Adult Healthcare Exposure and Future Opioid Misuse: A Prospective Cohort Study.

Introduction: Outpatient opioid prescribing is associated with opioid misuse in young adults, but the longitudinal association between general healthcare exposure and opioid misuse has not been explored. The objective of this study is to examine the association between healthcare exposure in young adulthood and future opioid misuse.

Methods: Data were drawn from the National Longitudinal Study of Adolescent to Adult Health (2001-2018) and analyzed in 2021.

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.

Background: Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood-brain barrier, and early disease onset and progression before ERT is started. We have opened a phase I clinical trial of enzyme replacement therapy (ERT) for fetuses with LSDs (NCT04532047).

A problem at any age: a case report of congenital malrotation with bowel ischemia in an 84-year-old.

Background: Malrotation with bowel ischemia is classically thought of as a disease of infants. However, the true prevalence of malrotation in both the pediatric and adult population is unknown due to the unclear number of asymptomatic patients.

Case Presentation: A previously healthy 84-year-old man with no prior abdominal surgeries presented with an acute abdomen and was found on CT to have small bowel located in the right hemiabdomen and an abnormal SMA-SMV relationship suggestive of intestinal malrotation, as well as pneumatosis intestinalis.

Prenatal Gene Therapy.

Prenatal gene therapy could provide a cure for many monogenic diseases. Prenatal gene therapy has multiple potential advantages over postnatal therapy, including treating before the onset of disease, the ability to induce tolerance and cross the blood-brain barrier. In this chapter, we will describe in utero gene therapy and its rationale, clinical trials of postnatal gene therapy, preclinical studies of in utero gene therapy, and potential risks to the mother and fetus.

Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.

Background: To identify genes associated with congenital diaphragmatic hernia (CDH) to help understand the etiology and inform prognosis.

Methods: We performed exome sequencing on fetuses with CDH and their parents to identify rare genetic variants likely to mediate risk. We reviewed prenatal characteristics and neonatal outcomes.

Designing an Intimate Partner Violence Screening Program for Surgical Residents in Trauma.

Background: Intimate partner violence (IPV) commonly affects surgical patients, particularly trauma patients. However, baseline knowledge of IPV is poor among surgeons and screening is variable. We designed a project to educate surgical residents on IPV and standardize screening in all trauma patients.

Factors and Growth Trends Associated With the Need for Gastrostomy Tube in Neonates With Congenital Diaphragmatic Hernia.

Objectives: A third of infants with congenital diaphragmatic hernia (CDH) require a gastrostomy tube (GT) for nutritional support. We compared CDH infants who are GT-dependent to those able to meet their nutritional needs orally, to identify factors associated with requiring a GT and evaluate their long-term growth.

Methods: Patients with CDH repaired at a single institution between 2012 and 2020 were included.

Pandemic Recovery: Persistent Disparities in Access to Elective Surgical Procedures.

Objective: To examine potential disparities in patient access to elective procedures during the recovery phase of the COVID-19 pandemic.

Summary Of Background Data: Elective surgeries during the pandemic were limited acutely. Access to surgical care was restored in a recovery phase but backlogs and societal shifts are hypothesized to impact surgical access.

Racial/ethnic disparities among women receiving intrauterine transfusions for alloimmunization at a single fetal treatment center.

Disparities are prevalent in numerous areas of healthcare. We sought to investigate whether there were racial/ethnic disparities among pregnant women with the most severe form of alloimmunization who require intrauterine transfusions (IUT). We reviewed patients who underwent IUT for alloimmunization at a single fetal treatment center between 2015 and 2020.