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RASopathies are a group of malformation syndromes known to lead to nonimmune hydrops fetalis (NIHF) in severe presentations. Pathogenic variants can be de novo or parentally inherited. Despite being a known frequent presentation, the fraction of monogenic NIHF cases due to RASopathies is limited in the literature. Also, the specific parental contribution of RASopathies to NIHF is not well described. Our objective was to review pooled exome sequencing (ES) diagnostic yield of RASopathies for NIHF and to determine the parental contribution of RASopathy to NIHF. We performed a systematic review of prenatal ES studies from January 1, 2000 to August 1, 2022. Thirty‐six studies met inclusion criteria. Cases with RASopathy gene variants were reviewed. NIHF cases were further classified as isolated or non‐isolated. Thirty‐six ES studies including 46 pregnancies with NIHF and a diagnosed RASopathy were reviewed. Forty‐four diagnostic variants and 2 variants of uncertain significance in 12 RASopathy genes were identified. Expanding on what was previously published, a total of 506 NIHF cases were extracted with 191 cases yielding a positive diagnosis by ES. The overall rate of RASopathy diagnosis in clinically diagnosed NIHF cases was 9% (44/506). The rate of RASopathy diagnosis among NIHF cases with positive genetic diagnosis by ES was 23% (44/191). Of the 46 cases identified, 13 (28%) variants were parentally inherited; specifically, 5/13 (38%) maternal, 3/13 (23%) paternal, 2/13 (15%) biparental, and 3/13 (23%) unspecified. Majority of NIHF cases 29/46 (63%) were isolated. Among NIHF cases with positive ES diagnoses, RASopathy diagnostic yield by ES was 23%. NIHF secondary to RASopathies was parentally inherited in 28% of cases. Most cases of NIHF due to RASopathy were isolated, with no prenatal detection of associated anomalies. [ABSTRACT FROM AUTHOR]

Objective: To describe the maternal outcomes of a prospective cohort of non‐immune hydrops fetalis (NIHF) pregnancies with negative standard‐of‐care evaluations. Methods: This study was a secondary analysis of a prospective cohort study of NIHF pregnancies with negative work‐ups (infection, alloimmune anemia, fetomaternal hemorrhage, and chromosomal disorders). Outcomes were obstetric complications, including pre‐eclampsia, mirror syndrome, preterm birth, polyhydramnios, postpartum hemorrhage, and maternal mental health. Results: Forty pregnancies were included. Four patients developed pre‐eclampsia (4/40, 10.0%); three occurred postpartum. None was diagnosed with mirror syndrome. Of the 31 continued pregnancies, 16 (51.6%) resulted in early fetal death or stillbirth and 15 (48.4%) resulted in live births. Of the 15 live births, 8 (53.3%) were delivered by primary cesarean delivery; 5 (62.5%) were for hydrops fetalis. Eleven live births (73.3%) were delivered preterm; 9 (81.8%) were indicated, most commonly for fetal indications (7/9, 77.8%). Polyhydramnios occurred in 14/40 (35.0%) cases. Where EBL was recorded (n=37), there were 5 (13.5%) cases of postpartum hemorrhage and an additional 3 (8.1%) had uterine atony without hemorrhage. Eighteen patients (18/40, 45.0%) had new‐onset or exacerbated depression or anxiety symptoms. Conclusion: Our study identified several important adverse outcomes of pregnancies complicated by NIHF with negative standard‐of‐care evaluations, including a high rate of postpartum pre‐eclampsia and worsened mental health. We identified a higher rate of cesarean delivery and preterm birth, both primarily for fetal indications. We also observed the known relationship between polyhydramnios, hemorrhage, and atony, but noted that this risk included pregnancies concluding in dilation and evacuation. Counseling after a diagnosis of NIHF should include these adverse outcomes. Synopsis: NIHF pregnancies have higher rates of postpartum pre‐eclampsia, mental health symptoms, medically‐indicated preterm birth, cesarean delivery for fetal hydrops, and postpartum hemorrhage. [ABSTRACT FROM AUTHOR]

Background: Rates of opioid addiction and overdose continue to climb in the United States, increasing pressure on prescribers to identify solutions to decrease postoperative opioid consumption. Hand and upper extremity surgeries are high-volume surgeries with a predilection for inadvertent overprescribing. Recent investigations have shown that preoperative opioid counseling may decrease postoperative opioid consumption. In order to test this hypothesis, a prospective randomized trial was undertaken to determine the effect of preoperative opioid counseling on postoperative opioid consumption. Methods: Eligible patients undergoing outpatient upper extremity surgery were randomized to either receive preoperative opioid counseling or to receive no counseling. Surgeons were blinded to their patient's counseling status. Preoperatively, patient demographics, surgical and prescription details were recorded. Postoperatively, patients' pain experience including opioid consumption, pain levels, and satisfaction was recorded. Results: There were 131 total patients enrolled, with 62 in the counseling group and 69 in the control group. Patients receiving counseling consumed 11.8 pills compared to 17.4 pills in the control group (P =.007), which translated to 93.7 Morphine Equivalent Units (MEU) in the counseling group compared to 143.2 MEU in the control group (P =.01). There was no difference in pain scores at any time point between groups. Among all study patients a total of 3767 opioid pills were prescribed with approximately 50% left unused. Conclusion: Patients receiving preoperative counseling consumed significantly fewer opioids postoperatively. Inadvertant overprescribing remains high. Routine use of preoperative counseling should be implemented along with prescribing fewer opioids overall to prevent overprescribing. [ABSTRACT FROM AUTHOR]

COVID-19 created a substantial set of challenges for health communication practitioners in the process of planning, implementing, and evaluating entertainment-education (EE) campaigns. EE is a theory and evidence-based communication strategy that employs entertainment media for educational messaging. Here, we briefly review EE campaigns in response to previous health emergencies and present three cases of EE responses to the COVID-19 pandemic from leading global organizations (PCI Media, BBC Media Action, and Sesame Workshop). Responses ranged from adaptation and re-distribution of existing content to creating new content under social-distancing restrictions and utilizing transmedia. These cases demonstrate that EE initiatives responding to future pandemics may be well served by starting with existing infrastructure to quickly build capacity, support, and trust; working with partners to tailor programs to the local context; and continuing to focus on good storytelling while simultaneously considering evolving media formats and theory. [ABSTRACT FROM AUTHOR]

Alkuraya-Kučinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malformations, arthrogryposis, and clubfeet. Cardiac, renal, and ophthalmologic abnormalities may also be observed, while nonimmune hydrops is rare. We present a case of two novel BLTP1 canonical splice-site variants in a fetus with multiple congenital anomalies, including hydrops, a kinked brainstem, and joint contractures. A systematic literature review was conducted to describe the prenatal phenotype of AKS, which was inspired by our case. Our systematic literature review of the prenatal phenotype in 19 cases, including our additional case, demonstrated joint contractures in 90% (18/20), ventriculomegaly in 60% (12/20), brainstem dysgenesis in 50% (10/20), cerebellar hypoplasia in 50% (10/20), parenchymal thinning with lissencephalic aspect in 60% (12/20), and facial dysmorphism in 70% (14/20) of reported AKS cases. In addition to our case, hydrops was reported in two other families. AKS should be considered in fetal presentations with characteristic features, especially brainstem kinking and joint contractures. Exome sequencing, including coverage of canonical intronic splice-site variants, can clarify the diagnosis. TRIAL REGISTRATION: ClinicalTrials.gov registration: NCT03911531., (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Falls in non-COVID-19-related hospital admissions during the pandemic affected the reasons for dermatology consultation and mode of consultation delivery. In order to assess the impact of the pandemic and the effects of telehealth on the inpatient dermatology service, we compared consultations completed between March 17, 2020 and October 31, 2020 with the same period of 2019. Dermatology received fewer consultations for management assistance during the pandemic, possibly due to patients with chronic dermatoses not meeting admission criteria or avoiding hospitalization. Consultations were also less likely to require laboratory work, imaging, and biopsies in 2020, potentially due to frequent consultation of benign conditions enabled by telehealth and stricter enforcement of only completing the biopsies necessary for acute inpatient management. Despite the shift toward remote consultations in 2020, the impact on diagnosis and management remained unchanged compared to 2019. Providers were less likely to document clinical improvement in 2020, potentially attributable to inferior communication regarding management recommendations or an increase in diagnoses not expected to improve. While remote consultations allowed dermatologists to provide comparable care during the pandemic, further research on clinical outcomes of remote consultations is required to maximize its benefits to patients and the healthcare system. ( SKINmed . 2022;20:197-204).

The objective of this study was to investigate the effect of standardized preoperative opioid counseling on postoperative opioid consumption for patients undergoing outpatient lower extremity orthopaedic surgery. Participating patients undergoing elective outpatient lower extremity orthopaedic surgery were randomized to either receive preoperative opioid counseling or not receive counseling (control group). Counseling was delivered via a five-minute pre-recorded standardized video preoperatively. Postoperatively, patients in both groups were queried for their postoperative pain experience, opioid consumption, non-opioid medication consumption, and any adverse effects related to their pain management experience. A total of 107 patients were studied, with 45 in the counseling group and 62 in the control group. Patients that received preoperative opioid counseling consumed on average 6.5 opioid pills postoperatively; the control group consumed 12.4 opioid pills (p = 0.008). Preoperative opioid counseling resulted in a statistically significant reduction in postoperative opioid consumption after outpatient lower extremity orthopaedic surgery. (Journal of Surgical Orthopaedic Advances 30(1):002-006, 2021).