Crop switching can enhance environmental sustainability and farmer incomes in China.

Achieving food-system sustainability is a multidimensional challenge. In China, a doubling of crop production since 1990 has compromised other dimensions of sustainability1,2. Although the country is promoting various interventions to enhance production efficiency and reduce environmental impacts3, there is little understanding of whether crop switching can achieve more sustainable cropping systems and whether coordinated action is needed to avoid tradeoffs. Here we combine high-resolution data on crop-specific yields, harvested areas, environmental footprints and farmer incomes to first quantify the current state of crop-production sustainability. Under varying levels of inter-ministerial and central coordination, we perform spatial optimizations that redistribute crops to meet a suite of agricultural sustainable development targets. With a siloed approach-in which each government ministry seeks to improve a single sustainability outcome in isolation-crop switching could realize large individual benefits but produce tradeoffs for other dimensions and between regions. In cases of central coordination-in which tradeoffs are prevented-we find marked co-benefits for environmental-impact reductions (blue water (-4.5% to -18.5%), green water (-4.4% to -9.5%), greenhouse gases (GHGs) (-1.7% to -7.7%), fertilizers (-5.2% to -10.9%), pesticides (-4.3% to -10.8%)) and increased farmer incomes (+2.9% to +7.5%). These outcomes of centrally coordinated crop switching can contribute substantially (23-40% across dimensions) towards China's 2030 agricultural sustainable development targets and potentially produce global resource savings. This integrated approach can inform feasible targeted agricultural interventions that achieve sustainability co-benefits across several dimensions.

Impact of transnational land acquisitions on local food security and dietary diversity.

Foreign investors have acquired approximately 90 million hectares of land for agriculture over the past two decades. The effects of these investments on local food security remain unknown. While additional cropland and intensified agriculture could potentially increase crop production, preferential targeting of prime agricultural land and transitions toward export-bound crops might affect local access to nutritious foods. We test these hypotheses in a global systematic analysis of the food security implications of existing land concessions. We combine agricultural, remote sensing, and household survey data (available in 11 sub-Saharan African countries) with georeferenced information on 160 land acquisitions in 39 countries. We find that the intended changes in cultivated crop types generally imply transitions toward energy-rich, but nutrient-poor, crops that are predominantly destined for export markets. Specific impacts on food production and access vary substantially across regions. Deals likely have little effect on food security in eastern Europe and Latin America, where they predominantly occur within agricultural areas with current export-oriented crops, and where agriculture would have both expanded and intensified regardless of the land deals. This contrasts with Asia and sub-Saharan Africa, where deals are associated with both an expansion and intensification (in Asia) of crop production. Deals in these regions also shift production away from local staples and coincide with a gradually decreasing dietary diversity among the surveyed households in sub-Saharan Africa. Together, these findings point to a paradox, where land deals can simultaneously increase crop production and threaten local food security.

Correlating area deprivation index with initial stage at presentation and with follow up and recurrence within an advanced practice provider-led survivorship clinic.

INTRODUCTION: Living in disadvantaged neighborhoods has been shown to result in worse healthcare outcomes. The Area Deprivation Index (ADI) is a metric that ranks neighborhoods by socioeconomic disadvantage utilizing numerous factors including income, education, employment, and housing quality. METHODS: A retrospective review of all patients who underwent surveillance in an APP-led head and neck cancer survivorship clinic from Dec 2016 to Oct 2020 at an academic tertiary care center were included. Tumor characteristics, visit frequency, recurrence, number of missed appointments, loss of follow up, and ADI scores were collected. RESULTS: 543 patients were included in the study. A majority were male (69.9 %) and white race (84.9 %) with an average age of 64.6 years old. Average ADI national percentile score was 71.6(range: 17 to 100). ADI national percentile score was not predictive of tumor characteristics at initial presentation: lymphovascular invasion (p = 0.940; OR 1.0 [95 % CI: 0.9 to 1.1]), extranodal extension (p = 0.576; OR 1.0 [95 % CI: 0.9 to 1.2]), positive margins (p = 0.069; OR 0.9 [95 % CI: 0.9 to 1.0]). ADI national percentile score was not significantly correlated with loss to follow up (p = 0.153; OR 1.2 [95 % CI: 0.9 to 1.7] or cancer recurrence (p = 0.594; OR 1.0 [95 % CI: 0.9 to 1.1]). Missing one or more clinic visits was correlated with loss to follow up (p = 0.029; OR 13.1 [95 % CI: 1.3 to 131.7]. CONCLUSION: Living in a disadvantaged neighborhood did not correlate with negative tumor characteristics, loss to follow up, or recurrence within an APP-led survivorship head and neck cancer clinic.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

PURPOSE: Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing via multi-gene panels (MGPs) and exome and genome sequencing (ES/GS) to measure the magnitude of uncertain results and explore ways to reduce their potentially detrimental impact. METHODS: Rates of inconclusive results due to VUS were collected from over 1.5 million sequencing test results from 19 clinical laboratories in North America from 2020 to 2021. RESULTS: We found a lower rate of inconclusive test results due to VUSs from ES/GS (22.5%) compared with MGPs (32.6%; P < .0001). For MGPs, the rate of inconclusive results correlated with panel size. The use of trios reduced inconclusive rates (18.9% vs 27.6%; P < .0001), whereas the use of GS compared with ES had no impact (22.2% vs 22.6%; P = ns). CONCLUSION: The high rate of VUS observed in diagnostic MGP testing warrants examining current variant reporting practices. We propose several approaches to reduce reported VUS rates, while directing clinician resources toward important VUS follow-up.

Two Satellite Gene Clusters Enhance Ergot Alkaloid Biosynthesis Capacity of Aspergillus leporis.

Ergot alkaloids are fungal specialized metabolites that are important in agriculture and serve as sources of several pharmaceuticals. Aspergillus leporis is a soil saprotroph that possesses two ergot alkaloid biosynthetic gene clusters encoding lysergic acid amide production. We identified two additional, partial biosynthetic gene clusters within the A. leporis genome containing some of the ergot alkaloid synthesis (eas) genes required to make two groups of clavine ergot alkaloids, fumigaclavines and rugulovasines. Clavines possess unique biological properties compared to lysergic acid derivatives. Bioinformatic analyses indicated the fumigaclavine cluster contained functional copies of easA, easG, easD, easM, and easN. Genes resembling easQ and easH, which are required for rugulovasine production, were identified in a separate gene cluster. The pathways encoded by these partial, or satellite, clusters would require intermediates from the previously described lysergic acid amide pathway to synthesize a product. Chemical analyses of A. leporis cultures revealed the presence of fumigaclavine A. However, rugulovasine was only detected in a single sample, prompting a heterologous expression approach to confirm functionality of easQ and easH. An easA knockout strain of Metarhizium brunneum, which accumulates the rugulovasine precursor chanoclavine-I aldehyde, was chosen as expression host. Strains of M. brunneum expressing easQ and easH from A. leporis accumulated rugulovasine as demonstrated through mass spectrometry analysis. These data indicate that A. leporis is exceptional among fungi in having the capacity to synthesize products from three branches of the ergot alkaloid pathway and for utilizing an unusual satellite cluster approach to achieve that outcome. IMPORTANCE Ergot alkaloids are chemicals produced by several species of fungi and are notable for their impacts on agriculture and medicine. The ability to make ergot alkaloids is typically encoded by a clustered set of genes that are physically adjacent on a chromosome. Different ergot alkaloid classes are formed via branching of a complex pathway that begins with a core set of the same five genes. Most ergot alkaloid-producing fungi have a single cluster of genes that is complete, or self-sufficient, and produce ergot alkaloids from one or occasionally two branches from that single cluster. Our data show that Aspergillus leporis is exceptional in having the genetic capacity to make products from three pathway branches. Moreover, it uses a satellite cluster approach, in which gene products of partial clusters rely on supplementation with a chemical intermediate produced via another gene cluster, to diversify its biosynthetic potential without duplicating all the steps.

Prospective Multicenter Comparison of Open and Robotic Radical Prostatectomy: The PROST-QA/RP2 Consortium.

PURPOSE: Our goal was to evaluate the comparative effectiveness of robot-assisted laparoscopic prostatectomy (RALP) and open radical prostatectomy (ORP) in a multicenter study. MATERIALS AND METHODS: We evaluated men with localized prostate cancer at 11 high-volume academic medical centers in the United States from the PROST-QA (2003-2006) and the PROST-QA/RP2 cohorts (2010-2013) with a pre-specified goal of comparing RALP (549) and ORP (545). We measured longitudinal patient-reported health-related quality of life (HRQOL) at pre-treatment and at 2, 6, 12, and 24 months, and pathological and perioperative outcomes/complications. RESULTS: Demographics, cancer characteristics, and margin status were similar between surgical approaches. ORP subjects were more likely to undergo lymphadenectomy (89% vs 47%; p <0.01) and nerve sparing (94% vs 89%; p <0.01). RALP vs ORP subjects experienced less mean intraoperative blood loss (192 vs 805 mL; p <0.01), shorter mean hospital stay (1.6 vs 2.1 days; p <0.01), and fewer blood transfusions (1% vs 4%; p <0.01), wound infections (2% vs 4%; p=0.02), other infections (1% vs 4%; p <0.01), deep venous thromboses (0.5% vs 2%; p=0.04), and bladder neck contractures requiring dilation (1.6% vs 8.3%; p <0.01). RALP subjects reported less pain (p=0.04), less activity interference (p <0.01) and higher incision satisfaction (p <0.01). Surgical approach (RALP vs ORP) was not a significant predictor of longitudinal HRQOL change in any HRQOL domain. CONCLUSIONS: In high-volume academic centers, RALP and ORP patients may expect similar long-term HRQOL outcomes. Overall, RALP patients have less pain, shorter hospital stays, and fewer post-surgical complications such as blood transfusions, infections, deep venous thromboses, and bladder neck contractures.

Cutaneous hyperpigmentation following bleomycin sclerotherapy for vascular malformations.

Systemic bleomycin therapy is associated with pulmonary fibrosis and cutaneous side effects. While it is believed that there is little to no systemic distribution of bleomycin when utilized to treat vascular malformations (VMs), we present a case series in which cutaneous, adhesive-related hyperpigmentation suggests that there is systemic egress of bleomycin following direct puncture sclerotherapy (DPS). This risk of hyperpigmentation after intralesional bleomycin should be discussed with patients, and steps to minimize the chances of it occurring should be implemented.

Assessing the sustainability of post-Green Revolution cereals in India.

Sustainable food systems aim to provide sufficient and nutritious food, while maximizing climate resilience and minimizing resource demands as well as negative environmental impacts. Historical practices, notably the Green Revolution, prioritized the single objective to maximize production over other nutritional and environmental dimensions. We quantitatively assess outcomes of alternative production decisions across multiple objectives using India's rice-dominated monsoon cereal production as an example. We perform a series of optimizations to maximize nutrient production (i.e., protein and iron), minimize greenhouse gas (GHG) emissions and resource use (i.e., water and energy), or maximize resilience to climate extremes. We find that increasing the area under coarse cereals (i.e., millets, sorghum) improves nutritional supply (on average, +1% to +5% protein and +5% to +49% iron), increases climate resilience (1% to 13% fewer calories lost during an extreme dry year), and reduces GHGs (-2% to -13%) and demand for irrigation water (-3% to -21%) and energy (-2% to -12%) while maintaining calorie production and cropped area. The extent of these benefits partly depends on the feasibility of switching cropped area from rice to coarse cereals. Based on current production practices in 2 states, supporting these cobenefits could require greater manure and draft power but similar or less labor, fertilizer, and machinery. National- and state-level strategies considering multiple objectives in decisions about cereal production can move beyond many shortcomings of the Green Revolution while reinforcing the benefits. This ability to realistically incorporate multiple dimensions into intervention planning and implementation is the crux of sustainable food production systems worldwide.

Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.

OBJECTIVE: To summarize the literature assessing the safety and efficacy of direct oral anticoagulants (DOACs) for the acute treatment and secondary prevention of venous thromboembolism (VTE) in select patients with hypercoagulable disorders. DATA SOURCES: An electronic PubMed literature search was conducted from January 2010 to July 2020 using the following keywords: DOAC, rivaroxaban, apixaban, dabigatran, edoxaban, thrombophilia, cancer, antiphospholipid syndrome, protein C deficiency, protein S deficiency, antithrombin deficiency, factor V Leiden, prothrombin G20210A gene mutation, congenital thrombophilia, hypercoagulable, hereditary thrombophilia, acquired thrombophilia. STUDY SELECTION AND DATA EXTRACTION: Articles were included if they reported clinical outcomes associated with cancer-associated VTE, antiphospholipid syndrome (APS), and other hereditary thrombophilias. DATA SYNTHESIS: The safety and efficacy of using a DOAC is highly dependent on the type of hypercoagulable disease state. Current trials support the use of edoxaban, rivaroxaban, and apixaban for the treatment of cancer-associated thrombosis (CAT), with apixaban being preferred because of lower bleeding rates compared with standard of care. The use of DOACs, especially rivaroxaban, have been associated with worse outcomes in patients with APS, whereas data on DOAC use in hereditary thrombophilia remains scarce and limited to low-risk patients. RELEVANCE TO PATIENT CARE AND CLINICAL PRACTICE: This review evaluates the literature assessing the safety and efficacy of DOACs in patients with various hypercoagulable disorders. CONCLUSIONS: The current body of evidence supports the use of select DOACs for the treatment of CAT. In contrast, DOAC use in patients with APS and hereditary thrombophilia should be avoided at this time.

Safety of direct oral anticoagulants in patients with mild to moderate cirrhosis: a systematic review and meta-analysis.

To evaluate major bleeding in cirrhosis with use of traditional anticoagulation or direct oral anticoagulants (DOACs), using a standardized definition. Anticoagulation in patients with cirrhosis is often a clinical conundrum for providers as the necessary balance between thrombotic and bleeding risk is complicated by end organ damage. Recent meta-analyses have sought to evaluate the safety and efficacy of direct oral anticoagulants in patients with liver disease. These recent analyses are limited by various bleeding definitions, broad inclusion criteria, and few indications for anticoagulation. We sought to conduct a meta-analysis using a validated definition for major bleeding and compare rates between traditional anticoagulation and DOACs in patients with cirrhosis. Articles were eligible for inclusion if the international society on thrombosis and hemostasis (ISTH) definition of a major bleed was the primary safety outcome. Additionally, only articles including patients with cirrhosis and receiving treatment with anticoagulation for an indication for stroke prevention or venous thromboembolism were eligible. Eligible articles needed a DOAC comparator group against traditional anticoagulant medication. Seven studies met inclusion criteria and compiled data for 683 patients in the meta-analysis. Pooled trial analysis demonstrated no statistically significant difference in the primary outcome of ISTH major bleeding (OR 0.55, 95%CI 0.28-1.07, I2 0%). Individual secondary outcomes of all bleeding, intracerebral hemorrhage, or gastrointestinal bleeding also demonstrated no significant difference between DOACs and traditional anticoagulation. Use of DOACs in patients with mild to moderate cirrhosis carries similar risk to use of traditional anticoagulation.

Genetic Reprogramming of the Ergot Alkaloid Pathway of Metarhizium brunneum.

Ergot alkaloids are important specialized fungal metabolites that are used to make potent pharmaceuticals for neurological diseases and disorders. Lysergic acid (LA) and dihydrolysergic acid (DHLA) are desirable lead compounds for pharmaceutical semisynthesis but are typically transient intermediates in the ergot alkaloid and dihydroergot alkaloid pathways. Previous work with Neosartorya fumigata demonstrated strategies to produce these compounds as pathway end products, but their percent yield (percentage of molecules in product state as opposed to precursor state) was low. Moreover, ergot alkaloids in N. fumigata are typically retained in the fungus as opposed to being secreted. We used clustered regularly interspaced short palindromic repeat (CRISPR)-CRISPR-associated protein 9 (Cas9) and heterologous expression approaches to engineer these compounds in Metarhizium brunneum, representing an alternate expression host from a different lineage of fungi. The relative percent yields of LA (86.9%) and DHLA (72.8%) were much higher than those calculated here for previously engineered strains of N. fumigata (2.6% and 2.0%, respectively). Secretion of these alkaloids also was measured, with averages of 98.4% of LA and 87.5% of DHLA being secreted into the growth medium; both values were significantly higher than those measured for the N. fumigata derivatives (both of which were less than 5.6% secreted). We used a similar approach to engineer a novel dihydroergot alkaloid in M. brunneum and, through high-performance liquid chromatography-mass spectrometry (LC-MS) analyses, provisionally identified it as the dihydrogenated form of lysergic acid α-hydroxyethylamide (dihydro-LAH). The engineering of these strains provides a strategy for producing novel and pharmaceutically important chemicals in a fungus more suitable for their production.IMPORTANCE Ergot alkaloids derived from LA or DHLA are the bases for numerous pharmaceuticals with applications in the treatment of dementia, migraines, hyperprolactinemia, and other conditions. However, extraction of ergot alkaloids from natural sources is inefficient, and their chemical synthesis is expensive. The ability to control and redirect ergot alkaloid synthesis in fungi may allow more efficient production of these important chemicals and facilitate research on novel derivatives. Our results show that Metarhizium brunneum can be engineered to efficiently produce and secrete LA and DHLA and, also, to produce a novel derivative of DHLA not previously found in nature. The engineering of dihydroergot alkaloids, including a novel species, is important because very few natural sources of these compounds are known. Our approach establishes a platform with which to use M. brunneum to study the production of other ergot alkaloids, specifically those classified as lysergic acid amides and dihydroergot alkaloids.

Left-sided infective endocarditis in persons who inject drugs.

PURPOSE: The purpose of this study was to describe left-sided infective endocarditis (LSIE) in persons who inject drugs (PWID) and compare that group to PWID with non-LSIE and to non-PWID with LSIE. METHODS: Retrospective single-center study of adult IE patients from 2011 to 2018. RESULTS: Of the 333 patients in our cohort, 54 were PWID with LSIE, 75 were PWID with non-LSIE, and 204 were non-PWID with LSIE. When comparing LSIE vs non-LSIE in PWID, the LSIE group was older (median age 35 vs 28.5, p < 0.01), had fewer S. aureus infections (59% vs 92%, p < 0.01), was more likely to have cardiac surgery (31% vs 13%, p < 0.01), and had a higher 10-week mortality (22% vs 5%, p < 0.01). When comparing PWID with LSIE to non-PWID with LSIE, the PWID group were younger (median age 35 vs 46, p < 0.01); had more frequent multi-valve involvement (33% vs 19%, p = 0.04), Staphylococcus aureus infections (54% vs 27%, p < 0.01), and previous IE (24% vs 8%, p < 0.01); and experienced more strokes (54% vs 31%, p < 0.01). Ten-week mortality was similar for LSIE in both PWID and non-PWID (24% vs 20%, p = 0.47). CONCLUSIONS: LSIE in PWID is not uncommon. Compared to non-LSIE in PWID, valve surgery is more common and mortality is higher. For reasons that are unclear, stroke is more frequent in LSIE in PWID than in non-PWID with LSIE but mortality is no different.

Outcomes Associated With Resuming Direct Oral Anticoagulant Therapy Following Admission for a Gastrointestinal Bleed.

BACKGROUND: Although direct oral anticoagulants (DOACs) carry a lower bleeding risk compared with warfarin, gastrointestinal bleeds (GIB) are a known complication. There are limited data observing outcomes associated with resuming DOACs following a GIB. OBJECTIVE: The purpose of this study was to evaluate practice patterns and clinical outcomes of patients admitted with an index GIB while receiving DOAC therapy. METHODS: This retrospective, single-system study included adult patients receiving DOAC therapy prior to admission and hospitalized with an index GIB between January 1, 2013, and October 31, 2018. Patient exclusion criteria were a history of immune thrombocytopenia purpura or inflammatory bowel disease; discharge to hospice; leaving against medical advice; or death during hospitalization. The primary objective was 90-day readmission for a recurrent GIB. RESULTS: There were 57 patients included for analysis; 37 patients had DOAC therapy held >7 days, 18 patients resumed DOAC therapy within 7 days, and 2 patients switched to warfarin. The majority of patients received rivaroxaban (59.6%) prior to admission for atrial fibrillation (71.9%), were admitted with a major GIB (66.7%), and required a blood transfusion (61.4%). The rates of recurrent GIB were 2.5% (n = 1) and 5.6% (n = 1) for those who had their DOAC held and resumed, respectively (P = 0.83). Mortality within 12 months of discharge occurred in 4 patients (10.8%) who had their DOAC held and 4 patients (22.2%) who resumed DOAC therapy (P = 0.28). CONCLUSION AND RELEVANCE: Resuming anticoagulation within 7 days of admission for an index GIB was not associated with a recurrent GIB within 90 days of discharge.

Direct oral anticoagulants and warfarin in patients with cirrhosis: a comparison of outcomes.

Anticoagulation management in patients with cirrhosis presents several challenges as a result of alterations in hemostasis. Historically vitamin k antagonists and low molecular weight heparins have been the agents of choice in this patient population. Direct oral anticoagulants (DOACs) may provide an alternative to traditional anticoagulant therapy. To evaluate the rate of major bleeding among patients receiving DOACs or warfarin with cirrhosis. A retrospective, observational, cohort study of adult patients admitted between January 2012 and July 2018 with diagnosis of cirrhosis receiving anticoagulation with DOAC or warfarin therapy was performed. Patients were stratified based on the receipt of a DOAC or warfarin. The primary endpoint was incidence of major bleeding at 90 days. Secondary endpoints included stroke or embolic event at 90 days as well as rehospitalization and mortality at 1 year. One hundred sixty-seven patients were included for analysis; of which 110 received warfarin and 57 received a DOAC. The most commonly used DOAC was apixaban (52.6%) followed by rivaroxaban (45.6%) and dabigratran (1.8%). The incidence of major bleeding was similar between warfarin and DOAC groups (9.1% vs. 5.2% p = 0.381). No difference in the rate of stroke or recurrent embolic event at 90 days was identified between the two groups (0% vs. 1.58% p = 0.341; 1.8% vs. 1.8% p = 0.731). In conclusion DOACs appear to be a safe alternative to warfarin in patients with mild to moderate cirrhosis. Further studies are warranted to confirm these findings.

Food Inequality, Injustice, and Rights.

As humanity continues to grow in size, questions related to human rights and the existing unequal distribution of food resources have taken on greater urgency. Is inequality in food access unjust or a regrettable consequence of the geographic distribution of biophysical resources? To what extent are there obligations to redress inequalities in access to food? We draw from a human rights perspective to identify obligations associated with access to food and develop a quantitative framework to evaluate the fulfillment of the human right to food. We discuss the capacity of socioeconomic development to reduce inequalities in per capita food availability with respect to the distribution of biophysical resources among countries. Although, at the country level, international trade shows the capacity to reduce human rights deficits by increasing food availability in countries with limited food production, whether it actually improves the fulfillment of the right to food will depend on within-country inequality.

Screening urinalysis demonstrates that haematuria is a frequent finding in persons with haemophilia treated at a paediatric haemophilia treatment centre.

INTRODUCTION: Haematuria is a recognized complication of haemophilia A and B (HA, HB). Adult persons with haemophilia (PWH) have a higher prevalence of renal disease than the general population. There is limited literature investigating the prevalence of haematuria in paediatric PWH. AIM: Our paediatric haemophilia treatment centre (HTC) had previously used quality improvement methods to increase the frequency of screening urinalyses at annual comprehensive visits. We retrospectively reviewed the data collected to determine the prevalence of haematuria and explore for associations in those with haematuria. METHODS: Retrospective chart review to identify the frequency of haematuria on screening urinalysis in all male PWH ≥2 years old. Haematuria was defined as ≥3 red blood cells (RBCs) per high power field. Univariate logistic regression was performed to evaluate for associations with haematuria. RESULTS: A total of 93 patients met eligibility criteria. Sixty-seven with HA (11 mild, 17 moderate, 39 severe) and 26 with HB (three mild, 16 moderate, seven severe). Forty-two of ninety-three (45%) patients were identified as having haematuria (median RBCs 7, mean RBCs 332). Of those with haematuria, 76% were identified by screening UA, as opposed to clinical symptoms, and 52% had recurrent haematuria. Older age and HA were associated with an increased likelihood of haematuria. CONCLUSIONS: Our study demonstrated that the prevalence of haematuria was high in PWH treated at our paediatric HTC. Future investigation is needed to determine the population-wide prevalence of haematuria in paediatric PWH and its impact on renal function.

Comparison of Factors Identified by Patients and Physicians Associated with Hospital Readmission (COMPARE2).

OBJECTIVE: Factors contributing to hospital readmission have rarely been sought from the patient perspective. Furthermore, it is unclear how patients and physicians compare in identifying factors contributing to readmission. The objective of the study was to identify and compare factors contributing to hospital readmission identified by patients and physicians by surveying participants upon hospital readmission to a teaching medicine service. METHODS: Patients 18 years and older who were discharged and readmitted to the same service within 30 days and the physicians caring for these patients were surveyed to identify factors contributing to readmission. Secondary outcomes included comparing responses between groups and determining level of agreement. Patients could be surveyed multiple times on subsequent readmissions; physicians could be surveyed for multiple patients. RESULTS: A total of 131 patients and 37 physicians were consented. The mean patient age was 60.1 years (standard deviation 16.8 years) and 55.6% were female; 56.4% were white, and 42.1% were black/African American. In total, 179 patient surveys identified "multiple medical problems" (48.6%), "trouble completing daily activities" (45.8%), and "discharged too soon" (43.6%) most frequently as contributing factors; 231 physician surveys identified "multiple medical problems" (45.0%) and "medical condition too difficult to care for at home" (35.6%) most frequently as contributing factors. Paired survey results were available for 135 readmissions and showed fair agreement for only 1 factor but no agreement for 5 factors. CONCLUSIONS: Patients identified previously unknown factors contributing to readmission. Little agreement existed between patients and physicians. Additional research is needed to determine how best to address patient-identified factors contributing to readmission.

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals inheriting the deletion, we collected 71 individuals reported with phenotypic data and known inheritance from a clinical cohort, a research cohort, the DECIPHER database, and the primary literature. Chi-squared and Mann-Whitney U tests were used to test for differences in specific and grouped clinical symptoms based on parental inheritance and proband gender. Analyses controlled for sibling sets and individuals with additional variants of uncertain significance (VOUS). Among all probands, maternal deletions were associated with macrocephaly (p = 0.016) and autism spectrum disorder (ASD; p = 0.02), while paternal deletions were associated with congenital heart disease (CHD; p = 0.004). Excluding sibling sets, maternal deletions were associated with epilepsy as well as macrocephaly (p < 0.05), while paternal deletions were associated with CHD and abnormal muscular phenotypes (p < 0.05). Excluding sibling sets and probands with an additional VOUS, maternal deletions were associated with epilepsy (p = 0.019) and paternal deletions associated with muscular phenotypes (p = 0.008). Significant gender-based differences were also observed. Our results supported POEs of this deletion and included macrocephaly, epilepsy and ASD in maternal deletions with CHD and abnormal muscular phenotypes seen in paternal deletions.