The missing clinical guidance: a scoping review of care for autistic transgender and gender-diverse people.

The co-occurrence of autism and gender diversity has been increasingly studied in the past decade. It is estimated that ∼11% of transgender and gender-diverse (TGD) individuals are diagnosed with autism. However, there is insufficient knowledge about appropriate gender-related clinical care for autistic TGD individuals. We performed a scoping review of current clinical guidance for the care of TGD individuals to identify what was said about autism. Clinical guidance documents were searched in PubMed, Web of Science, Google Scholar, Embase, Guidelines International Network, and TRIP medical database, as well as reference mining and expert recommendation. Evidence was synthesised by narrative synthesis, recommendation mapping, and reference frequency analysis. Out of the identified 31 clinical guidance documents, only eleven specifically mentioned the intersection between autism and TGD. Key concepts among the available recommendations included advocating for a multidisciplinary approach; emphasising the intersectionality of autism and gender-diverse experiences during assessments; and-importantly-recognising that autism, in itself, does not serve as an exclusion criterion for receiving gender-related care. However, detailed and practical clinical guidance is lacking due to a gap in evidence. Empirical research into the care experiences and outcomes of autistic TGD individuals using a developmental, lifespan, and strengths-based approach is needed to generate evidence-informed and tailored guidance. Funding: This study was funded through a Canadian Institutes of Health Research Sex and Gender Science Chair program (GSB 171373) awarded to M-CL.

The effects of age and frailty on the risks of end-stage renal disease, death, and severe infection in older adults with antineutrophil cytoplasmic antibody-associated vasculitis: a retrospective cohort study.

BACKGROUND: Frailty, a measure of biological age, might predict poor outcomes in older adults better than chronological age. We aimed to compare the effect of age and frailty on end-stage renal disease, death, and severe infection within 2 years of diagnosis in older adults with incident antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. METHODS: This retrospective cohort study included individuals aged 65 years or older from the Mass General Brigham ANCA-associated vasculitis cohort in the USA who were treated between Jan 1, 2002, and Dec 31, 2019. Individuals with a diagnosis of eosinophilic granulomatosis with polyangiitis were excluded from the analysis. Baseline frailty was measured with a claims-based frailty index using data collected in the year before the date of treatment initiation in individuals with at least one health-care encounter before baseline; individuals who did not have an encounter within the 12 months before baseline were classified as pre-frail. Incidence rates of end-stage renal disease or death and severe infections (ie, infections leading to hospital admission or death) at 2 years were estimated, and multivariable analyses were performed to compare the association of age and frailty with these outcomes. Cumulative incidence rates and an additive interaction analysis were used to assess the interaction of age and frailty groupings. FINDINGS: Of the 234 individuals included, 136 (58%) were women, 98 (42%) were men, 198 (85%) were White, and 198 (85%) were positive for myeloperoxidase-specific ANCA. Frailty was present in 25 (22%) of 116 individuals aged 65-74 years and 44 (37%) of 118 aged 75 years or older. In the multivariable analysis, an age of 75 years or older was associated with an increased risk of end-stage renal disease or death (hazard ratio [HR] 4·50 [95% CI 1·83-11·09]), however, frailty was not (1·08 [0·50-2·36]). Both an age of 75 years or older (HR 2·52 [95% CI 1·26-5·04]) and frailty (8·46 [3·95-18·14]) were independent risk factors for severe infections. The effect of frailty on the incidence of end-stage renal disease or death was greater in individuals aged 65-74 years (frail vs non-frail or pre-frail incidence rate 7·5 cases vs 2·0 cases per 100 person-years) than in those aged 75 years or older (13·5 cases vs 16·0 cases per 100 person-years). The effect of frailty on the incidence of serious infections varied by age, with large differences observed among both individuals aged 65-74 years (frail vs non-frail or pre-frail incidence rate 38·9 cases vs 0·8 cases per 100 person-years) and individuals aged 75 years or older (61·9 cases vs 12·3 cases per 100 person-years). Despite the observed differences between the age groups, the additive interaction terms were not statistically significant for either frailty and end-stage renal disease or death (p for interaction=0·276) or frailty and serious infections (p for interaction=0·650). INTERPRETATION: Adults with ANCA-associated vasculitis aged 75 years or older had a higher incidence of end-stage renal disease, death, and severe infections within 2 years of diagnosis than adults aged 65-74 years. Frailty, an approximation of biological age, was a risk factor for severe infection. Assessment beyond chronological age could better inform management decisions in older adults with ANCA-associated vasculitis. FUNDING: National Institutes of Health and National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Postoperative Bleeding Complications are Common Among Patients Undergoing Transcarotid Artery Revascularization.

BACKGROUND: Current practice guidelines recommend dual antiplatelet therapy for at least 30 days postoperatively after transcarotid artery revascularization (TCAR) to promote stent patency. However, many patients are already taking other antithrombotic medications. The optimal pharmacologic regimen in this patient population remains unclear, especially as it pertains to postoperative bleeding complications. METHODS: All TCAR procedures performed at a large academic medical center from January 1, 2017 to April 30, 2023 were identified via current procedural terminology codes and retrospectively reviewed via electronic medical records. Data were collected on patient demographics, procedural details, postoperative complications, and antithrombotic regimen. Bleeding complications were categorized as surgical and non-surgical, which included any bleeding diatheses that were not related to the neck incision, such as epistaxis, hematuria, melena, or non-cervical hematoma. RESULTS: A total of 116 TCAR procedures were performed. The 30-day incidence of bleeding complications was 12.1% (n=14), which included 8 (6.9%) symptomatic neck hematomas and 6 (5.2%) non-surgical site bleeding complications. Aside from patient age (median 72 y [66-79] vs 79 y [70.5-88], p=0.03), demographics, medical comorbidities, surgical indication, risk-related indication for TCAR, and inpatient/outpatient status were similar between patients who experienced bleeding versus no bleeding complications. Patients who developed bleeding complications experienced higher thirty-day hospital readmission (42.9% vs 9.8%, p<0.001) and reintervention rates (21.4% vs 2.0%, p<0.001) and trended towards longer postoperative length of stay (1.5 d [1-3] vs 1 [1-2] d, p=0.07). Reasons for readmission (n=16) included: epistaxis (1), hematuria (1), headache and melena (1), melena and myocardial infarction (1), fall (1), headache (1), dyspnea (5), delirium (1), diarrhea (1), atrial fibrillation (1), and neck hematoma (1); one patient did not have a readmission reason documented. Reinterventions (n=6) included: neck hematoma evacuation (2), epistaxis cauterization (1), emergent cricothyroidotomy (1), and repeat carotid stenting (1). The management of antithrombotic medications during bleeding events were highly variable amongst providers (11 patients with nothing held, one apixaban held, one aspirin held, one clopidogrel held), however, no patients suffered carotid stent thrombosis. CONCLUSIONS: Bleeding complications are common within 30 days of TCAR and frequently result in unplanned hospital readmission and reintervention. There is significant provider-level variability in management of antithrombotic medications during these events. These data highlight need for evidence-based guidelines for the optimal pharmacologic strategy for patients post-TCAR who develop bleeding complications.

Understanding the Scope of Acute Care Vascular Surgery at a Tertiary Academic Medical System.

OBJECTIVE: The restructuring of non-elective general surgery and nationwide implementation of the acute care surgery paradigm has improved patient outcomes and healthcare resource utilization. Although vascular surgery maintains one of the highest acuity rates among surgical specialties, the acute care vascular surgery (ACVS) practice model has not been widely accepted. In the present study, we investigate the scope and burden of ACVS at a tertiary academic medical system. METHODS: All vascular surgical procedures performed at three hospitals comprising a large tertiary academic medical system were retrospectively queried through electronic medical records. Data were collected on procedure, acuity, timing of intervention, primary service, admission type, and total costs and charges. Patients were stratified by acuity of surgical intervention, with ACVS being defined as urgent or emergent operation. RESULTS: A total of 12,689 vascular surgeries were performed from 2018 to 2022. ACVS procedures comprised 22.1% this total (n=2,803; 12.5% urgent, 9.6% emergent), with an annual burden ranging from 19.1% to 28.3%. Vascular surgeons served as primary surgeon in 91.3% of ACVS and co-surgeon in 8.7%. Fourteen separate surgical specialties requested acute vascular assistance, with the most frequently consulting specialties including trauma/acute care surgery (n=109, 3.9%) and cardiac surgery (n=74, 2.6%). ACVS cases were more frequently performed after-hours (30.7% vs 11.6%) and on weekends (27.1% vs 2.0%) compared with elective vascular procedures (p<0.0001 each). The majority of ACVS cases originated from inpatient (n=2,353, 85.0%) and emergency department (n=379, 13.5%) consultations. Overall, ACVS generated $37.5 million in charges, accounting for 14% of total procedure-related charges over the study period. CONCLUSIONS: ACVS comprises a substantial portion of modern vascular practice, and is associated with significant human and healthcare resource expenditure. These data support the development of practice models dedicated to acute vascular surgical care.

Longitudinal Symptom Burden and Pharmacologic Management of Catatonia in Autism with and without Profound Impairment: An Observational Study.

Introduction: Catatonia is a highly morbid psychomotor and affective disorder which can affect autistic individuals with and without profound impairment. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments has not been described. Methods: We conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1st, 2021 to May 31st, 2024. Data investigating pharmacologic interventions, and clinical measures including the Bush Francis Catatonia Rating Scale (BFCRS), Kanner Catatonia Severity Scale (KCS), Kanner Catatonia Examination (KCE), and Clinical Global Impression - Improvement (CGI-I) were collected. Results: Forty-five patients were identified with 39 (86.7%) meeting criteria for profound autism. All patients received pharmacotherapy. 44 (97.8%) were treated with benzodiazepines with a mean maximal daily dose of 17.4 mg (SD=15.8) lorazepam equivalents. Thirty-five patients (77.8%) required more than one medication class for treatment. Fourteen patients (31.1%) attempted to taper off benzodiazepines during the study period; of these, 5 patients (11.1%) were successfully tapered off, and the remaining 9 (17.8%) discontinued the taper due to a return of catatonic symptoms. Statistically significant improvement was observed across all clinical domains except the KCS. However, the majority remained symptomatic over the study period. Conclusions: Despite clinical improvements while receiving the gold standard for psychopharmacologic management of catatonia, chronic symptoms remained for the majority of catatonia patients over the study period, and few were able to taper and discontinue benzodiazepine treatment.

Recombinant origin and interspecies transmission of a HERV-K(HML-2)-related primate retrovirus with a novel RNA transport element.

HERV-K(HML-2), the youngest clade of human endogenous retroviruses (HERVs), includes many intact or nearly intact proviruses, but no replication competent HML-2 proviruses have been identified in humans. HML-2-related proviruses are present in other primates, including rhesus macaques, but the extent and timing of HML-2 activity in macaques remains unclear. We have identified 145 HML-2-like proviruses in rhesus macaques, including a clade of young, rhesus-specific insertions. Age estimates, intact open reading frames, and insertional polymorphism of these insertions are consistent with recent or ongoing infectious activity in macaques. 106 of the proviruses form a clade characterized by an ~750 bp sequence between env and the 3' long terminal repeat (LTR), derived from an ancient recombination with a HERV-K(HML-8)-related virus. This clade is found in Old World monkeys (OWM), but not great apes, suggesting it originated after the ape/OWM split. We identified similar proviruses in white-cheeked gibbons; the gibbon insertions cluster within the OWM recombinant clade, suggesting interspecies transmission from OWM to gibbons. The LTRs of the youngest proviruses have deletions in U3, which disrupt the Rec Response Element (RcRE), required for nuclear export of unspliced viral RNA. We show that the HML-8-derived region functions as a Rec-independent constitutive transport element (CTE), indicating the ancestral Rec-RcRE export system was replaced by a CTE mechanism.

Just as we study fossils to understand how animals and plants have evolved, we can study ancient viruses to understand how diseases have emerged and changed over long periods. Unlike fossils, viruses do not leave visible traces in the ground but, instead, they leave viral genes known as endogenous viral elements (or EVEs) that become permanently incorporated in their host's DNA. HML-2s are the youngest known EVEs in the human genome. They have evolved gradually by accumulating lots of small genetic changes and no longer actively infect humans. But these virus remnants have long been suspected to play a role in prostate cancer, lupus and other human diseases. Rhesus macaques and other monkeys also have HML-2s but these are less well studied than human HML-2s. Monkeys are often used as models of human biology in research studies, therefore, understanding how HML-2s have evolved in rhesus macaques may enable researchers to establish this monkey as a model for investigating the role of HML-2s in humans. To investigate this possibility, Williams et al. searched for HML-like EVEs in rhesus macaque genomes published in previous studies. The experiments found that, unlike human HML-2s, the macaque HML-2s underwent a sudden genetic transformation millions of years ago. They acquired a new gene from another virus that completely changed how the macaque HML-2s leave a compartment within the cells of their host that contains most of the host's genome ­ a key step in the life cycle of viruses. The data also suggest that HML-2s may still be actively infecting macaques today and that these EVEs jumped from monkeys into gibbons. This is the first known example of HML-2s moving between different types of primates and it indicates there may be a risk that macaque HML-2s could infect humans. In the future, the findings of Williams et al. may help researchers develop new approaches to treat prostate cancer and other diseases linked with HML-2s in humans.

Defining the Value of Vascular Surgery Service at a Tertiary Academic Medical Center.

BACKGROUND: Vascular surgeons play a critical role in the functioning of a healthcare system. As a service line, vascular surgery not only performs its own complex operations but also provides support to other surgical specialties by assisting in the management of vascular-related complications. Previous reports have acknowledged the value of consulting vascular surgeons; however, these studies have primarily been limited to single-center series. In this study, we aim to contribute to the existing literature by sharing our experience and highlighting the financial value of consulting vascular surgeons at a large tertiary academic medical center. METHODS: Institutional electronic medical records were retrospectively queried for all operations performed by vascular surgeons from 2020 to 2022. Two separate procedural groups were identified. The first group comprised all surgeries where vascular surgery was listed as a co-surgeon for other surgical specialties. The second group comprised all surgeries where vascular surgery was the primary surgeon for service-level cases. Service-level cases were defined as operations resulting directly from (1) iatrogenic complications from other services, (2) consultations for traumatic injury, or (3) primary surgeon for nonvascular cases. The Centers for Medicare and Medicaid Services Physician Fee Schedule was used to calculate work relative value units (wRVUs) per primary procedure code. RESULTS: A total of 7,821 surgeries were performed with vascular involvement more than the study period. Of these, 726 operations (9.3%) were co-surgeon cases requiring intraoperative vascular assistance, from 109 surgeons across all 16 surgical specialties. There were no missing data. The most common specialties requesting vascular assistance included cardiac surgery (n = 247, 34.0%), orthopedic surgery (n = 152, 20.9%), and neurosurgery (n = 131, 18.0%). Total procedural wRVU for co-surgeon cases was 16,220, and total charges exceeded $77.5 million dollars. Vascular surgery served in a primary surgeon role in an additional 154 service-level cases (2.0%) resulting from 10 nonsurgical services. The most common service-level indication was iatrogenic vascular injury (n = 87, 56.4%), and most service-level cases required urgent or emergent surgery (n = 123, 79.9%). These procedures generated an additional 2,150 wRVUs and $1.1 million dollars in charges for the hospital system. Of all co-surgeon or service-level cases, 19.1% (n = 168) occurred after-hours and 10.3% (n = 91) occurred on a holiday or weekend. CONCLUSIONS: Vascular surgery is crucial to the operation of all surgical services and many nonsurgical service lines within an academic medical center. Apart from providing essential services for primary vascular diseases, the vascular surgery service line offers substantial financial benefits to the healthcare system through its consulting role. A considerable portion of operative consultations is performed under urgent or emergent circumstances, often necessitating surgical intervention outside regular working hours or on holidays/weekends. These findings have significant implications for assessing the value and compensation of vascular surgeons in today's healthcare landscape.

The effect of adding physician recommendation in digitally-enabled outreach for COVID-19 vaccination in socially/economically disadvantaged populations.

INTRODUCTION: People from backgrounds that are economically/socially disadvantaged experienced disproportionately high COVID-19 death rates and had lower vaccination rates. Effective outreach strategies for increasing vaccine uptake during the pandemic are not fully known. Among patients receiving care at a Federally Qualified Health Center, we tested whether community engaged digitally-enabled outreach from a trusted clinician messenger increased COVID vaccine uptake. STUDY DESIGN, SETTING, AND PARTICIPANTS: A 3-parallel-arm randomized controlled trial with a hybrid effectiveness-implementation design was conducted among patients ≥ 18 years old on study enrollment during 2021 with 1,650 assigned in 3:10:20 ratio; 2,328 were later selected for two subsequent implementation rounds. INTERVENTIONS: From April 13 to June 10, 2021, patients were proactively sent a text-messaging invitation to make an appointment for vaccination as part of the routine practice with a link to frequently asked questions (Arm 1, n = 150) with added personalized clinician recommendation alone (Arm 2, n = 500) or with enabled 2-way SMS messaging feature (Arm 3, n = 1,000). Further implementation used messaging addressing vaccine hesitancy (n = 1,323) or adverse reactions to vaccines (n = 1,005). MAIN OUTCOMES AND MEASURES: The primary outcome was the completion of the first SARS-Cov-2 vaccine dose determined at 14, 30 and 90 days after outreach. RESULTS: Of 1,650 patients in effectiveness Arms, 61% was female. Vaccination rates for Arms 1, 2, and 3, were 6% (n = 9), 5.4% (n = 27) and 3.3% (n = 33) at 14 days, and 11.5% (n = 17), 11.6% (n = 58), and 8.5% (n = 85) at 90 days, respectively, which were similar in pairwise comparisons. At 90 days, vaccination rates were similar across the two implementation rounds (3.9% vs. 3.6%) and were similar to the rate (3.3%) among patients who were not selected for intervention arms or implementation rounds (n = 8,671). CONCLUSIONS: Digitally-enabled outreach that included SMS messaging outreach augmented with clinician recommendations did not improve COVID-19 vaccination rates. TRIAL REGISTRATION: This study is registered at ClinicalTrails.gov Identifier: NC-T04952376.

Development and characterization of the mode-of-action of inhibitory and agonist peptides targeting the voltage-gated sodium channel SCN1B beta-subunit.

Cardiac arrhythmia treatment is a clinical challenge necessitating safer and more effective therapies. Recent studies have highlighted the role of the perinexus, an intercalated disc nanodomain enriched in voltage-gated sodium channels including both Nav1.5 and ß1 subunits, adjacent to gap junctions. These findings offer insights into action potential conduction in the heart. A 19-amino acid SCN1B (ß1/ß1B) mimetic peptide, ßadp1, disrupts VGSC beta subunit-mediated adhesion in cardiac perinexii, inducing arrhythmogenic changes. We aimed to explore ßadp1's mechanism and develop novel SCN1B mimetic peptides affecting ß1-mediated adhesion. Using patch clamp assays in neonatal rat cardiomyocytes and electric cell substrate impedance sensing (ECIS) in ß1-expressing cells, we observed ßadp1 maintained inhibitory effects for up to 5 h. A shorter peptide (LQLEED) based on the carboxyl-terminus of ßadp1 mimicked this inhibitory effect, while dimeric peptides containing repeated LQLEED sequences paradoxically promoted intercellular adhesion over longer time courses. Moreover, we found a link between these peptides and ß1-regulated intramembrane proteolysis (RIP) - a signaling pathway effecting gene transcription including that of VGSC subunits. ßadp1 increased RIP continuously over 48 h, while dimeric agonists acutely boosted RIP for up to 6 h. In the presence of DAPT, an RIP inhibitor, ßadp1's effects on ECIS-measured intercellular adhesion was reduced, suggesting a relationship between RIP and the peptide's inhibitory action. In conclusion, novel SCN1B (ß1/ß1B) mimetic peptides are reported with the potential to modulate intercellular VGSC ß1-mediated adhesion, potentially through ß1 RIP. These findings suggest a path towards the development of anti-arrhythmic drugs targeting the perinexus.

New focus on cardiac voltage-gated sodium channel ß1 and ß1B: Novel targets for treating and understanding arrhythmias?

Voltage-gated sodium channels (VGSCs) are transmembrane protein complexes that are vital to the generation and propagation of action potentials in nerve and muscle fibers. The canonical VGSC is generally conceived as a heterotrimeric complex formed by 2 classes of membrane-spanning subunit: an α-subunit (pore forming) and 2 ß-subunits (non-pore forming). NaV1.5 is the main sodium channel α-subunit of mammalian ventricle, with lower amounts of other α-subunits, including NaV1.6, being present. There are 4 ß-subunits (ß1-ß4) encoded by 4 genes (SCN1B-SCN4B), each of which is expressed in cardiac tissues. Recent studies suggest that in addition to assignments in channel gating and trafficking, products of Scn1b may have novel roles in conduction of action potential in the heart and intracellular signaling. This includes evidence that the ß-subunit extracellular amino-terminal domain facilitates adhesive interactions in intercalated discs and that its carboxyl-terminal region is a substrate for a regulated intramembrane proteolysis (RIP) signaling pathway, with a carboxyl-terminal peptide generated by ß1 RIP trafficked to the nucleus and altering transcription of various genes, including NaV1.5. In addition to ß1, the Scn1b gene encodes for an alternative splice variant, ß1B, which contains an identical extracellular adhesion domain to ß1 but has a unique carboxyl-terminus. Although ß1B is generally understood to be a secreted variant, evidence indicates that when co-expressed with NaV1.5, it is maintained at the cell membrane, suggesting potential unique roles for this understudied protein. In this review, we focus on what is known of the 2 ß-subunit variants encoded by Scn1b in heart, with particular focus on recent findings and the questions raised by this new information. We also explore data that indicate ß1 and ß1B may be attractive targets for novel antiarrhythmic therapeutics.

Diversity of Research Participant Gender, Race, and Ethnicity in Communication Sciences and Disorders: A Systematic Review and Quantitative Synthesis of American Speech-Language-Hearing Association Publications in 2020.

Purpose: One manifestation of systemic inequities in communication sciences and disorders (CSD) is the chronic underreporting and underrepresentation of sex, gender, race, and ethnicity in research. The present study characterized recent demographic reporting practices and representation of participants across CSD research. Methods: We systematically reviewed and extracted key reporting and participant data from empirical studies conducted in the United States (US) with human participants published in the year 2020 in journals by the American Speech-Language-Hearing Association (ASHA; k = 407 articles comprising a total n = 80,058 research participants, search completed November 2021). Sex, gender, race, and ethnicity were operationalized per National Institutes of Health guidelines (National Institutes of Health, 2015a, 2015b). Results: Sex or gender was reported in 85.5% of included studies; race was reported in 33.7%; and ethnicity was reported in 13.8%. Sex and gender were clearly differentiated in 3.4% of relevant studies. Where reported, median proportions for race and ethnicity were significantly different from the US population, with underrepresentation noted for all non-White racial groups and Hispanic participants. Moreover, 64.7% of studies that reported sex or gender and 67.2% of studies that reported race or ethnicity did not consider these respective variables in analyses or discussion. Conclusion: At present, research published in ASHA journals frequently fails to report key demographic data summarizing the characteristics of participants. Moreover, apparent gaps in representation of minoritized racial and ethnic groups threaten the external validity of CSD research and broader health care equity endeavors in the US. Although our study is limited to a single year and publisher, our results point to several steps for readers that may bring greater accountability, consistency, and diversity to the discipline.

Endovascular salvage of occluded renal artery after >15 hours of ischemic time.

In severe cases of acute traumatic injury to the kidney, immediate intervention is necessary to avoid irreversible ischemic damage. This case involves a 24-year-old woman who presented with signs of right renal devascularization after a high-speed all-terrain vehicle accident. Due to transport from an outside hospital, there was >15-hour delay before evaluation by vascular surgery. Considering her young age, we elected to salvage this patient's kidney via percutaneous endovascular stenting to mitigate any further prolongation of renal artery occlusion and prevent long-term sequelae. After intervention, her acute kidney injury resolved, and her creatinine levels normalized. As illustrated in this case, recovery of the renal parenchyma remains a possibility despite an extended warm ischemic time, providing evidence for future young patients to be considered for renal salvage.

Attitudes of autistic adults toward genetic testing for autism.

Genetic testing for autism has been a controversial topic within the autistic community. Opinions regarding the benefits, risks, and limitations of genetic testing often differ between autistic people, researchers, and healthcare providers. The present study sought to understand the beliefs, attitudes, and intentions to pursue genetic testing of autistic adults and compare perspectives of autistic people who have had genetic testing with those who have not. An international sample of 173 autistic adults (19 [11%] who had previously undergone autism-related genetic testing) completed an online survey with questions assessing beliefs, attitudes, and intentions to pursue genetic testing. Beliefs and attitudes about genetic testing varied widely across the sample. Autistic individuals who had received prior genetic testing had much more positive beliefs about autism-related genetic testing (d = 0.87, 95% CI [0.37, 1.36]) and attitudes toward genetic testing (d = 1.14, 95% CI [0.66, 1.61]) compared to those who had not received such testing, although there were no meaningful differences between those same groups regarding beliefs about genetic testing unrelated to autism (d = 0.02, 95% CI [-0.45, 0.49], p = 0.93). Intention to genetically test oneself or one's (hypothetical) children was also significantly predicted by autism-specific beliefs, attitudes, and prior genetic testing status. A large majority of the sample (78.6%) also agreed that autistic individuals would benefit from contact with a genetic counselor in certain situations. These findings suggest that the autistic community does not have a singular view of genetic testing, and for those Autistic individuals who are interested in pursuing genetic testing for themselves or a family member, genetic counselors have the potential to play a key role in clinical care.

Surgical outcomes of patients with inferior vena cava leiomyosarcoma.

INTRODUCTION: Primary vascular leiomyosarcomas are incredibly rare and have a poor prognosis. The purpose of this study was to analyze the surgical outcomes of patients with primary inferior vena cava (IVC) leiomyosarcoma. METHODS: We performed a retrospective review of IVC leiomyosarcoma resections performed at a single tertiary care hospital from 2014 to 2023. A total of 13 cases were analyzed, including 10 women and 3 men. The presenting symptoms, tumor characteristics, operative management, postoperative complications, and survival rates were assessed for each patient. RESULTS: The median patient age was 59 years (quartile [Q]1, 52 years; Q3, 68 years). The median tumor size was 7.0 cm (Q1, 6 cm; Q3, 12 cm). The median mitotic rate was 6 per 10 high-power fields (Q1, 2.5; Q3, 15.5). All 13 patients underwent grossly negative tumor resection, with 9 (69%) having microscopically negative margins (R0). No patient had lymph node involvement. The IVCs were managed with ligation in four patients for tumors already occluding the IVC and bovine pericardial patch angioplasty in seven patients or primary repair in two patients for patent IVCs. Concomitant right nephrectomy was performed in seven patients. Left renal vein ligation was performed in three patients, but no left nephrectomies were performed. Significant postoperative complications included one patient with lower extremity compartment syndrome, two patients with severe leg swelling, and one patient with arm swelling. The 30-day mortality rate was zero. Using the Kaplan-Meier product limit method, disease-specific survival was estimated to be 93%. CONCLUSIONS: Surgical resection is a feasible and effective oncologic treatment option for patients with IVC leiomyosarcoma. The IVC can be safely managed by ligation, primary repair, or patch angioplasty, depending on the prior patency of the IVC.

The Social Validity of Behavioral Interventions: Seeking Input from Autistic Adults.

Many in the autistic community have expressed concerns regarding the use of behavioral interventions with autistic children, suggesting that these interventions may not be socially valid. Though behavioral interventions have evolved to be more naturalistic and child-centered, little structured research has been done to explicitly seek autistic perspectives on the acceptability of specific components of behavioral interventions. Autistic adults (N = 235) were recruited online to take the Autism Intervention Attitudes Scale (AIAS), a questionnaire designed to gather feedback on common intervention goals and practices. Results indicate that participants find goals and practices that highlight quality of life, safety, and autistic interactions acceptable, while those that focus on normalization based on neurotypical standards are not. An exploratory graph analysis revealed three communities of goals ("uncontroversial goals", "controversial goals", and "social goals"). Comparison between naturalistic and structured intervention components additionally showed that autistic participants favored naturalistic strategies. These findings are in line with known criticisms of behavioral intervention from autistic adults, but also provide more information on the specific ways in which behavioral interventions can be reformed. This information can guide professionals in the development of appropriate goals and decisions around intervention planning.

Policy and market forces delay real estate price declines on the US coast.

Despite increasing risks from sea-level rise (SLR) and storms, US coastal communities continue to attract relatively high-income residents, and coastal property values continue to rise. To understand this seeming paradox and explore policy responses, we develop the Coastal Home Ownership Model (C-HOM) and analyze the long-term evolution of coastal real estate markets. C-HOM incorporates changing physical attributes of the coast, economic values of these attributes, and dynamic risks associated with storms and flooding. Resident owners, renters, and non-resident investors jointly determine coastal property values and the policy choices that influence the physical evolution of the coast. In the coupled system, we find that subsidies for coastal management, such as beach nourishment, tax advantages for high-income property owners, and stable or increasing property values outside the coastal zone all dampen the effects of SLR on coastal property values. The effects, however, are temporary and only delay precipitous declines as total inundation approaches. By removing subsidies, prices would more accurately reflect risks from SLR but also trigger more coastal gentrification, as relatively high-income owners enter the market and self-finance nourishment. Our results suggest a policy tradeoff between slowing demographic transitions in coastal communities and allowing property markets to adjust smoothly to risks from climate change.

Factors Associated With an Electronic Health Record-Based Definition of Postacute Sequelae of COVID-19 in Patients With Systemic Autoimmune Rheumatic Disease.

OBJECTIVE: Many individuals with rheumatic disease are at higher risk for severe acute coronavirus disease 2019 (COVID-19). We aimed to evaluate risk factors for postacute sequelae of COVID-19 (PASC) using an electronic health record (EHR)-based definition. METHODS: We identified patients with prevalent rheumatic diseases and COVID-19 within the Mass General Brigham healthcare system. PASC was defined by the International Classification of Diseases, 10th revision (ICD-10) codes, relevant labs, vital signs, and medications at least 30 days following the first COVID-19 infection. Patients were followed until the earliest of incident PASC, repeat COVID-19 infection, 1 year of follow-up, death, or February 19, 2023. We used multivariable Cox regression to estimate the association of baseline characteristics with PASC risk. RESULTS: Among 2459 patients (76.37% female, mean age 57.4 years), the most common incident PASC manifestations were cough (14.56%), dyspnea (12.36%), constipation (11.39%), and fatigue (10.70%). Serious manifestations including acute coronary disease (4.43%), thromboembolism (3.09%), hypoxemia (3.09%), stroke (1.75%), and myocarditis (0.12%) were rare. The Delta wave (adjusted hazard ratio [aHR] 0.63, 95% CI 0.49-0.82) and Omicron era (aHR 0.50, 95% CI 0.41-0.62) were associated with lower risk of PASC than the early pandemic period (March 2020-June 2021). Age, obesity, comorbidity burden, race, and hospitalization for acute COVID-19 infection were associated with greater risk of PASC. Glucocorticoid (GC) use (aHR 1.19, 95% CI 1.05-1.34 compared to no use) was associated with greater risk of PASC. CONCLUSION: Among patients with rheumatic diseases, following their first COVID-19 infection, we found a decreased risk of PASC over calendar time using an EHR-based definition. Aside from GCs, no specific immunomodulatory medications were associated with increased risk, and risk factors were otherwise similar to those seen in the general population.

Endovascular Treatment of a Multi-visceral Aortic Conduit Blowout With Parallel Stent Grafts and Coils.

Multi-visceral transplantation (MVT) is a complex surgical procedure involving the transplantation of multiple abdominal organs as a single unit, typically used as bailout treatment of patients with devastating abdominal pathologies. Due to the complexity of the procedure, major and even life-threatening complications can happen. Vascular complications, including anastomotic breakdowns or pseudoaneurysms due to infections, can be universally lethal. Open surgical repair is often not an option due to the hostile operative field. We report a case of endovascular salvage of multi-visceral aortic conduit blowout utilizing parallel stent grafts and coils without sacrifice of the transplanted viscera. This combination can successfully control bleeding and maintain graft perfusion in this rare but devastating complication.

Measurement matters: A commentary on the state of the science on patient reported outcome measures (PROMs) in autism research.

High quality science relies upon psychometrically valid and reliable measurement, yet very few Patient Reported Outcome Measures (PROMs) have been developed or thoroughly validated for use with autistic individuals. The present commentary summarizes the current state of autism PROM science, based on discussion at the Special Interest Group (SIG) at the 2022 International Society for Autism Research (INSAR) Annual Meeting and collective expertise of the authors. First, we identify current issues in autism PROM research including content and construct operationalization, informant-structure, measure accessibility, and measure validation and generalization. We then enumerate barriers to conducting and disseminating this research, such as a lack of guidance, concerns regarding funding and time, lack of accessible training and professionals with psychometric skills, difficulties collecting large representative samples, and challenges with dissemination. Lastly, we offer future priorities and resources to improve PROMs in autism research including a need to continue to evaluate and develop PROMs for autistic people using robust methods, to prioritize diverse and representative samples, to expand the breadth of psychometric properties and techniques, and to consider developing field specific guidelines. We remain extremely optimistic about the future directions of this area of autism research. This work is well positioned to have an immense, positive impact on our scientific understanding of autism and the everyday lives of autistic people and their families.

Parent and Provider Differences in Ratings of Mental Health and Neurodevelopmental Concerns in Children with Neurologic Disorders.

Children with neurologic disorders face increased risks for mental health and neurodevelopmental conditions, with information often limited to parent report. To better understand mental health and neurodevelopmental needs in this population, a retrospective chart review of a convenience sample of children with neurologic disorders referred for a neuropsychological evaluation was conducted in the present study to explore interrater agreement between care team members (referring providers, parents, pediatric neuropsychologist). Qualitative and quantitative data were collected from the evaluation reports of 129 youth (9:0-17:11 years old; 51.2% of female sex) with neurologic disorders (i.e., 38.0% traumatic brain injury, 27.1% epilepsy, 14.7% premature birth, 7.8% pediatric cancer, 3.9% prenatal substance exposure, and 14.7% other) who completed an evaluation in 2019. Over half the youth were flagged for unmet neurodevelopmental and mental health concerns and analyses revealed low interrater agreement for mental health concerns (κ = .324), better agreement for neurodevelopmental concerns (κ = .511), and low sensitivity of referring providers (Se = .326) and parents (Se = .366). One-way analyses of variance uncovered important factors (e.g., symptom severity, adaptive skills) that may account for missed concerns. Findings guide recommendations to strengthen methods for understanding mental health and/or neurodevelopmental concerns in children with neurologic disorders.