High-Grade Spindle Cell Sarcoma of the Scalp With an MGA::NUTM1 Gene Fusion in a Pediatric Patient.

ABSTRACT: NUT carcinoma (NC) is a rare and aggressive neoplasm associated with a poor prognosis. NC is characterized by a NUTM1- rearrangement on chromosome 15q14, commonly fused with the BRD4 or BRD3 gene . A rare subset of NC defined by fusion of NUTM1 with the MGA gene has been identified, showing mesenchymal differentiation on histology. Few cases of spindle cell sarcomas harboring MGA::NUTM1 gene fusions have been reported in the literature. We describe a case of spindle cell sarcoma harboring an MGA::NUTM1 fusion in a 6-year-old male patient. In contrast to typical cases of spindle cell carcinomas or NC, NUTM1 fusion-positive sarcomas are associated with a better prognosis. This report highlights the importance of diagnostic workup of undifferentiated neoplasms, as identification of the MGA::NUTM1 fusion in spindle cell sarcoma could be used in treatment algorithms and lead to better outcomes, to the benefit of patients.

Impact of Limited Enhanced Recovery Pathway for Cardiac Surgery: A Single-Institution Experience.

OBJECTIVES: Enhanced recovery pathway (ERP) refers to extensive multidisciplinary, evidence-based pathways used to facilitate recovery after surgery. The authors assessed the impact that limited ERP protocols had on outcomes in patients undergoing cardiac surgery at their institution. DESIGN: A retrospective cohort study. SETTING: This study was a single-institution study conducted at a university hospital. PARTICIPANTS: Patients undergoing open adult cardiac surgery. INTERVENTIONS: Enhanced recovery pathways limited to preoperative, intraoperative, and postoperative management of pain, atrial fibrillation prevention, and nutrition optimization were implemented. MEASUREMENTS AND MAIN RESULTS: A total of 1,058 patients were included in this study. There were 374 patients in each pre- and post-ERP cohort after propensity matching, with no significant baseline differences between the 2 cohorts. Compared to the matched patients in the pre-ERP group, patients in the post-ERP group had decreased total ventilation hours (6.8 v 7.8, p = 0.006), less use of postoperative opioid analgesics as determined by total morphine milligram equivalent (32.5 v 47.5, p < 0.001), and a decreased rate of postoperative atrial fibrillation (23.3% v 30.5%, p = 0.032). Post-ERP patients also experienced less subjective pain and postoperative nausea and drowsiness as compared to their matched pre-ERP cohorts. CONCLUSIONS: Limited ERP implementation resulted in significantly improved perioperative outcomes. Patients additionally experienced less postoperative pain despite decreased opioid use. Implementation of ERP, even in a limited format, is a promising approach to improving outcomes in patients undergoing cardiac surgery.

Response and local control in patients treated with low-dose radiotherapy for tumoral mycosis fungoides.

Low-dose radiotherapy (LDRT), defined in this study as 2 fractions of 4 Gy delivered on consecutive days, is an effective option for local palliation of mycosis fungoides (MF), but its efficacy for tumoral lesions (TL) needs investigation. We assessed response and local control (LC) rates for patients treated with LDRT for MF and compared these outcomes between TL and non-TL. A total of 73 lesions in 18 patients treated with LDRT between 2013-2020 were analyzed. Response was defined as complete response (CR), partial response (PR), or no response (NR). In the non-TL versus TL groups, CR was observed in 16.7% v. 4.0%, PR in 81.2% v. 80.0%, NR in 2.1% v. 16.0%, respectively. 2-year LC was 100% for non-TL and 61% for TLs (p < 0.01). LDRT yields excellent response and lesion control for non-TLs and is associated with lower response rates and LC for TLs.

Low-dose radiation therapy yields excellent response and lesion control for non-tumoral lesions.

Knowing Is Not Doing: A Qualitative Study of Parental Views on Family Beverage Choice.

OBJECTIVE: Sugary drink consumption is associated with adverse health outcomes in children, highlighting the need for scalable family interventions that address barriers to water consumption. To inform development of a scalable, health-care-system-based intervention targeting family beverage choice, a formative qualitative study was conducted using semi-structured interviews with parents whose children were identified as over-consuming sugar-sweetened beverages (SSB) and/or fruit juice (FJ). The first goal of these interviews was to understand, in a diverse real-world patient population, what parents viewed as the primary drivers of their family's beverage choices, and explore how these drivers might need to be addressed in order to make changes to beverage consumption. A second goal was to explore parental preferences for planned intervention components. An exploratory goal of the interviews was to examine whether knowledge, attitudes, and beliefs around family beverage choice differed across racial and ethnic groups in this sample. DESIGN: Semi-structured phone interviews were conducted and interviews audio-recorded and transcribed. PARTICIPANTS: 39 parents/caregivers of children ages 1-8 who over-consumed sugary drinks as determined by screenings at pediatric visits. PHENOMENON OF INTEREST: Parents were interviewed about family beverage choices and preferences to inform development of a multi-component intervention. ANALYSIS: Thematic analysis was performed, including comparison of themes across racial/ethnic groups. RESULTS: Parents expressed that sugary drinks were unhealthy and water was a better alternative. Most were familiar with the health consequences of excess sugar consumption. They identified many reasons why sugary drinks are chosen over water despite this knowledge. One common reason was concern about tap water safety. Few differences were noted across racial and ethnic groups in our sample. Parents were enthusiastic about a technology-based intervention to be delivered through their child's doctor's office. CONCLUSIONS AND IMPLICATIONS: Knowledge is not enough to change behavior. Beverage interventions need to be easy to access, make water more appealing, and elevate beverage choice above the "white noise" of everyday life. Delivering an intervention in a clinical setting could provide an extra level of care, while technology would reduce the amount of live contact and decrease the burden for clinicians and parents.

A Comparison of Topical Corticosteroids and Topical Calcineurin Inhibitors for the Treatment of Atopic Dermatitis.

Topical corticosteroids (TCS) are a mainstay of treatment for atopic dermatitis (AD). There are shared physician and patient concerns that TCS use can result in skin atrophy and systemic absorption. The clinical use of topical calcineurin inhibitors (TCI) for AD is relatively limited despite evidence that TCI are safe and effective. Understanding the differences in efficacy and adverse effects between TCS and TCI can help shape prescription practices to the benefit of patients. The objective of this review is to characterize the difference in efficacy and adverse effects between TCS and TCI. A review of the literature between 2002 and 2022 was performed using the PubMed, EMBASE, and Cochrane Library databases. Ten studies comparing TCS of varying potencies with TCI approved for AD treatment were included in the review. Outcome measures were qualified using percent reductions on the modified Eczema Area and Severity Index score and decreases in physician's global evaluation of AD severity. Tacrolimus had statistically significant (P < .05) improvement in disease severity compared with TCS in 4 of the 5 studies that compared tacrolimus with weak TCS. The data suggest greater treatment efficacy of tacrolimus over weak TCS, and inferior efficacy of pimecrolimus (TCI) compared with both tacrolimus and weak TCS. It is difficult to draw conclusions between moderate, potent, and very potent TCS and TCI due to the small number of available studies. TCI can improve disease severity, especially on thin or intertriginous skin regions most vulnerable to adverse events with TCS treatment, and their use may help overcome adherence issues due to patient bias against TCS.

Cranial Nerve Anatomy Using a Modular and Multimodal Radiologic Approach.

Introduction: Medical students often struggle with learning cranial nerve anatomy. Typically, cranial nerve anatomy is taught using didactic lectures and textbook illustrations, often leaving students frustrated. Methods: We developed a multimodal radiologic approach to teaching cranial nerve anatomy. First, 150 students were presented with carefully curated preclass material from which to prepare. Next, they received a didactic lecture that was recorded for them to revisit on their own time. Last, students worked in groups in a lab setting with expert radiologists to identify the cranial nerves and related anatomy and learn about some basic pathophysiology. We used a pretest and posttest to examine the effectiveness of our teaching methods and a survey to measure students' satisfaction. Results: Student knowledge of cranial nerve structure was significantly improved after our module, with quiz scores increasing from 4.6 to 6.8 out of 9.0 (p < .001). In addition, students reported feeling more confident in their knowledge of the material and offered high satisfaction scores. Discussion: The breadth of knowledge covered during the preclinical training years continues to expand despite stable or even contracted durations of training, requiring knowledge to be delivered in an ever more efficient manner. Ultimately, the multimodal pedagogy used by our resource leads to students who are more confident and engaged in their learning, resulting in increased knowledge.

Introduction of an Analgesia Prescription Guideline Can Reduce Unused Opioids After Cardiac Surgery: A Before and After Cohort Study.

OBJECTIVE(S): The authors aimed to assess whether the introduction of a tailored Analgesia Prescription Guideline would decrease the amount of unused opioid following discharge from cardiac surgery. DESIGN: Prospective, observational, before and after study. SETTING: Quaternary care university hospital. PARTICIPANTS: A total of 191 participants who underwent cardiac surgery requiring midline sternotomy and cardiopulmonary bypass. There were 99 participants in the before cohort (prior to introduction of the Analgesia Prescription Guideline), and 92 participants in the after cohort (after introduction of the Analgesia Prescription Guideline). INTERVENTIONS: Using prospectively collected observational data on participant opioid consumption in the before cohort, a tailored Analgesia Prescription Guideline was developed. This guideline then was introduced to all opioid-prescribing providers in the cardiothoracic surgery department. Prospective data then were collected in the after cohort of participants. Opioid prescription practices and opioid consumption between the two groups then were compared. MEASUREMENTS AND MAIN RESULTS: Opioid prescriptions were given to 62/99 participants (63%) in the before cohort, and 48/92 (52%) in the after cohort (rate difference 0.1, CI 95% -0.26, 0.046). In the before cohort, the mean (± standard deviation) number of opioid tablets prescribed, used, and leftover was 26 (±10), 11 (±10), and 15 (±12), respectively. In the after cohort, the mean number of opioid tablets prescribed, used, and leftover was 18 (mean difference -8, CI 95% -12, -5), 10 (mean difference -1, CI 95% -5, 3), and 8 (mean difference -7, CI 95% -11, -3), respectively. There were 110/191 (58%) participants using no opioids following discharge, and 10/191 (5%) still using opioids two weeks after discharge. There were no differences between groups with regard to demographics, opioid-related side effects, pain scores, satisfaction, opioid storage. and disposal practices. CONCLUSIONS: The development and implementation of a tailored Analgesia Prescription Guideline decreased the amount of opioids prescribed after cardiac surgery and resulted in lower numbers of unused leftover opioid tablets in the community. Patient comfort and satisfaction scores remained high.

Perioperative Management of Bleeding and Transfusion for Lung Transplantation.

Perioperative allogeneic blood product transfusion is common in lung transplantation and has various implications on the short- and long-term outcomes of lung recipients. This review summarizes the effect of transfusion on outcomes including primary graft dysfunction, chronic lung allograft dysfunction, and all-cause mortality. We outline known risk factors for increased transfusion requirement in lung transplantation and present current evidence regarding the effect of hemostatic agents including antifibrinolytics, recombinant factor VII, and prothrombin complex concentrates. Finally, we highlight the roles of point-of-care coagulation testing and goal-directed transfusion strategies in reducing transfusion requirements in lung transplantation.

Assessing the reproductive performance of men co-infected with HIV-1 and hepatitis C undergoing assisted reproduction.

OBJECTIVE: To assess the reproductive performance of men co-infected with hepatitis C virus (HCV) and human immunodeficiency virus (HIV-1) undergoing assisted reproduction. DESIGN: A retrospective analysis. SETTING: University-based assisted reproductive technology (ART) center. PATIENTS: We reviewed 217 consecutive ART cycles performed on 106 HIV-1 serodiscordant couples between August 1997 and March 2004, in which 28 men (26%) were seropositive for HCV and HIV-1 (group 1). MAIN OUTCOME MEASURES: Patient demographics and laboratory testing were compared to reproductive outcomes of men undergoing similar treatment but infected only with HIV-1 (group 2). RESULTS: Co-infected men and their partners were of similar age as men infected only with HIV-1. Comparing group 1 to group 2, like values were noted for HIV-1 viral loads [1,993 +/- 1,140 copies/ml (mean +/- SE) vs. 1,659 +/- 487 copies/ml]; CD4 counts (520 +/- 98 vs. 604 +/- 38 mm(-3)); and semen parameters. IVF performance and outcomes were similar, with fertilization rate (0.68 +/- 0.03 vs. 0.71 +/- 0.02); number of normally cleaving embryos (6.0 +/- 0.5 vs. 5.3 +/- 0.3); embryo implantation rate (0.27 +/- 0.04 vs. 0.2 +/- 0.02); and clinical pregnancy rate (40 vs. 29%). Although the male mortality rate was low in both groups, morbidity among co-infected men was significantly higher. Seven of 28 men (25%) had detectable HCV viral loads, and 14 (50%) had elevated liver function tests. CONCLUSION: Men co-infected with HCV and HIV-1 do reasonably well undergoing ART to prevent transmission of viruses to their partners and children.

Deaths of HIV-positive men in the context of assisted reproduction: five case studies from a single center.

Provision of reproductive services to individuals infected with HIV-1 is gaining popular acceptance and is generally endorsed by specialists in reproductive medicine. In the situation in which the male is HIV positive and the female partner is not infected, a large body of evidence has demonstrated that the use of assisted reproductive technology is effective for achieving pregnancy, while eliminating the risk of viral transmission to the mother and fetus. No reports have documented the well-being of the HIV-infected partners subsequent to seeking fertility services. In the current report, we document the cases of five HIV-positive men who died secondary to complications of HIV infection shortly after participating in the assisted reproduction program for HIV-1-serodiscordant couples at Columbia University. Three of these couples successfully achieved pregnancy and live birth, including one set of triplets, and one case of posthumous conception; the fourth case resulted in the cryopreservation of all embryos after the sudden death of the male before the time of embryo transfer; the fifth couple failed to conceive. None of the deaths, which occurred within a few months to 2 years from initial consultation, were related to infertility treatment. The demographic and social statuses of these patients were not different from the general population of men seeking assisted reproduction in our clinic. Regarding the HIV infection status of these cases, three patients had a longer duration of infection compared to the general population of men in our cohort, and one had a significantly lower CD4 cell count. All five men had stable HIV viral loads, and were determined by their primary care providers to be clinically healthy at the time of entry into the program for assisted reproduction. The untimely deaths of these patients underscores the importance of the thoughtful consideration of the complex issues involved in family planning for these individuals, including advanced directives for the use of cryopreserved gametes and embryos, and the social, emotional, and practical issues for the children and surviving partners subsequent to the death of the HIV-positive parent.

Assessing the treatment efficacy of IVF with intracytoplasmic sperm injection in human immunodeficiency virus-1 (HIV-1) serodiscordant couples.

The purpose of this study was to evaluate the treatment efficacy of using IVF-intracytoplasmic sperm injection (ICSI) in HIV serodiscordant couples interested in having children while minimizing the risk of viral transmission. This study reviews the cases of HIV serodiscordant couples (n = 142) seeking fertility treatment at an assisted reproductive centre. The main outcome measures were successful pregnancy rate and HIV seroconversion rate. In calculating crude pregnancy rates, only patients who were actually treated were taken into account. To compensate for cancelled patients, and patient drop-out, lifetable analysis was performed. Life-table analysis demonstrated that 37.0 +/- 5.0% of couples attain a successful pregnancy after one completed IVF-ICSI with embryo transfer (IVF-embryo transfer) cycle. Following two and three IVF-embryo transfer cycles, the pregnancy rates rose to 56.8 +/- 6.0 and 73.4 +/- 6.9% respectively. Overall pregnancy rates were inversely related to age. There were no HIV seroconversions in treated patients or in delivered babies. It is concluded that the use of IVF-ICSI to avoid disease transmission in HIV-1 serodiscordant couples desiring children appears to be safe and yields high rates of pregnancy. However, success is influenced by the woman's age.

Acute and chronic presentation of ectopic pregnancy may be two clinical entities.

OBJECTIVE: The diagnosis of ectopic pregnancy (EP) is often confirmed at presentation (acute), but often requires serial beta-hCG levels to confirm the diagnosis (chronic). The purpose of this study is to analyze whether these clinical presentations represent a spectrum of disease. DESIGN: The retrospective cohort study of 452 patients diagnosed with EP at the University of Pennsylvania in the years 1990-1999. SETTING: University of Pennsylvania, Philadelphia, Pennsylvania. PATIENT(S): Four hundred fifty-two patients diagnosed with EP. Patients diagnosed with EP were divided into two groups according to the time of diagnosis. MAIN OUTCOME MEASURE(S): A total of 37 parameters were examined including historic and demographic factors, findings at presentation, and treatment and outcome variables. RESULT(S): The two groups were similar in terms of historic EP risk factors. Multivariable analysis demonstrates that women with a chronic presentation were less likely to have received fertility medications (odds ratio [OR] 0.23; 95% confidence interval [CI] 0.06-0.84), less likely to present with pain (OR 0.29; 95% CI 0.12-0.71), have a lower beta-hCG level at presentation (9,849 mIU/mL +/- 16,726 vs. 1,787 mIU/mL +/- 4,717), lower chance of rupture (OR 0.19; 95% CI 0.05-0.73), and less frequently have blood type 0. CONCLUSION(S): Women diagnosed with ectopic pregnancy can be categorized into two groups, those with an acute presentation and those with a chronic presentation. Differences in risk factors, presentation, and outcome may reflect differences in trophoblast viability or invasive potential.

Obstetric outcomes of human immunodeficiency virus-1-serodiscordant couples following in vitro fertilization with intracytoplasmic sperm injection.

The objective of this article is to report obstetric outcomes of human immunodeficiency virus-1 (HIV-1)-serodiscordant couples who underwent in vitro fertilization and embryo transfer (IVF-ET) with intracytoplasmic sperm injection (ICSI) at a tertiary care center. We reviewed the outcomes of seronegative women after IVF-ET with ICSI from January 1, 1997 to June 1, 2002. Serodiscordant couples (n = 25) successfully conceived 27 pregnancies delivering 40 neonates (16 singletons, 9 twins, and 2 triplets). The mean gestational age at delivery was 37 0/7 weeks +/- 3 6/7 weeks (range 26 0/7 to 41 2/7 weeks). The mean birth weight was 2646 g +/- 952 g (range 678 to 4396 g). The cesarean section rate was 70%. Preterm delivery (<37 weeks) occurred in 7 pregnancies, and low birth weight (<2500 g) was observed in 8 pregnancies. There were no HIV-1 seroconversions detected at delivery. One hundred percent of the mothers and offspring were beyond 3 months postpartum and remained seronegative. IVF-ET with ICSI seems safe and effective for serodiscordant couples. Obstetric outcomes are favorable, and HIV-1 infection risk is limited.

Preliminary experience offering oocyte donation to human immunodeficiency virus-1 serodiscordant couples.

CASE REPORT: Our preliminary experience on the use of donor oocytes in human immunodeficiency virus-1 (HIV-1) serodiscordant couples who have previously failed conventional in vitro fertilization (IVF) therapy is presented. Five HIV-1 serodiscordant couples in which the male is infected and the female is seronegative underwent IVF with intracytoplasmic sperm injection (ICSI) utilizing donor oocytes with day 3 embryo transfer and cryopreservation. Six oocyte donation cycles in the five couples yielded 16.8 +/- 9.5 (mean +/- SD) (range 11-34) oocytes; 3.8 +/- 0.4 (range 3-4) transferred embryos; and 1.8 +/- 2.2 (range 0-5) cryopreserved embryos per attempt. The fertilization rate from ICSI was 0.60 +/- 0.16 (range 0.40-0.88). Three of five couples conceived; two from one attempt (one singleton pregnancy and one twin pregnancy); and another after a failed fresh cycle using cryopreserved embryos. All female recipients tested remained seronegative 3 and 6 months post-embryo transfer. All babies (n=4) were seronegative at birth and 3 months postpartum. CONCLUSION: Oocyte donation may be considered as an alternative for childbearing in HIV serodiscordant couples in whom conventional IVF has failed due to factors inherent to the female partner.

Assessing the clinical utility of in vitro fertilization with intracytoplasmic sperm injection in human immunodeficiency virus type 1 serodiscordant couples: report of 113 consecutive cycles.

OBJECTIVE: To assess the utility and safety of in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) in human immunodeficiency virus-1 (HIV-1) serodiscordant couples. DESIGN: Retrospective study. SETTING: University-based practice. PATIENT(S): HIV-1 seropositive men and seronegative women undergoing IVF-ICSI.IVF-ICSI, HIV testing of female partner and infants. MAIN OUTCOME MEASURE(S): IVF performance, pregnancy rates, and HIV-1 seroconversion rate. RESULT(S): We initiated 113 IVF cycles in 61 serodiscordant couples. Due to poor ovarian response, 11.5% of cycles were canceled. The number of oocytes collected per retrieval was 17.11 +/- 9.52 (2 to 47), yielding 13.90 +/- 8.12 (1 to 42) mature oocytes suitable for ICSI, and 9.34 +/- 5.45 (0 to 24) normal fertilized oocytes. We transferred 3.54 +/- 1.09 (1 to 6) embryos. The overall clinical pregnancy rate was 44.8% per embryo transfer (ET); ongoing/delivered pregnancy rate was 36.5% per ET, with a 57.1% multiple gestation rate. Cumulatively, 50.8% of couples achieved a successful pregnancy through IVF-ICSI, 54.1% when including frozen ET cycles. There were no HIV-1 seroconversions in patients or delivered babies. CONCLUSION(S): HIV-1 serodiscordant couples who undergo IVF-ICSI to avoid disease transmission experience high rates of success, but also encounter complications from assisted reproductive technology similar to traditional patients. The best candidates appear to be younger women without strong risk factors for ovarian hyperstimulation syndrome.

Understanding the motivations, concerns, and desires of human immunodeficiency virus 1-serodiscordant couples wishing to have children through assisted reproduction.

OBJECTIVE: To survey the attitudes of human immunodeficiency virus (HIV)-serodiscordant couples interested in assisted reproduction and better characterize their motivations for reproducing. METHODS: A prospectively designed questionnaire and open-ended interview of 50 consecutive HIV-serodiscordant couples interested in undergoing assisted reproduction to avoid transmission of virus were studied. Demographic characteristics and attitudes regarding beginning a family were obtained. By design, males were HIV seropositive (age, 38.0 +/- 5.4 years, range 26-51 years) and healthy. Women were HIV seronegative (age, 34.5 +/- 5.1 years, range 24-45 years). Most couples were married (44 of 50) and in long-term relationships (duration of relationship, 8.9 +/- 4.9 years, range 1-20 years). RESULTS: Before presentation, nine of 50 couples had conceived and delivered a child (three of nine instances with knowledge of paternal HIV status). Previous timed intercourse occurred in 8% of couples (four of 50). Six individuals stated they would proceed with timed intercourse if no other alternatives existed. Forty-eight percent said they would prefer artificial insemination with donor sperm in lieu, if assisted reproduction failed or were unavailable. Forty-three percent of respondents would pursue "posthumous conception" if cryopreserved sperm or embryos were available in the event of the partner's death. Most couples discussed the possibility of single parenting (45 of 50; 90%) or the possibility for adoptive parenting (29 of 50; 58%). Couples were aware of risk, and 92% (46 of 50) understood that their child might contract HIV. CONCLUSION: Human immunodeficiency virus-serodiscordant couples are actively seeking reproductive assistance and often consider or practice unsafe measures to achieve pregnancy. Reproductive issues and concerns unique to these couples need to be addressed before treatment.

Reversible azoospermia: anabolic steroids may profoundly affect human immunodeficiency virus-seropositive men undergoing assisted reproduction.

BACKGROUND: In vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) has recently been offered to human immunodeficiency virus (HIV)-serodiscordant couples where the man is seropositive and the woman seronegative to achieve pregnancy while minimizing the risk of HIV transmission. Anabolic steroids are commonly prescribed medications for adjunctive treatment of HIV disease to prevent muscle wasting. CASE: An HIV-serodiscordant couple presented for fertility care and evaluation. The man was found to be azoospermic. Further evaluation attributed his azoospermia to his treatment with testosterone and oxandrolone. After these agents were discontinued, his azoospermia resolved within 3 months. Normal sperm were then cryopreserved for future use, and his medications were resumed. Later the couple conceived by IVF-ICSI using the cryopreserved sperm. CONCLUSION: The popular use of anabolic steroids in HIV-infected men may predispose them to abnormal sperm production.