bluuebunny/crossref_metadata_2025_split huggingface dataset:
Providing a Constipation Action Plan to Families of Children With Constipation Decreases Health Care Utilization
Authors: Hawa Kathryn , Janse Sarah , Lee Jennifer , Bali Neetu , Vaz Karla , Yacob Desale , Di Lorenzo Carlo , Lu Peter L. 
Published: October 2022

Objectives:To evaluate whether providing a constipation action plan (CAP) to families of children with constipation at outpatient gastroenterology (GI) visits affects health care utilization of the GI department.Methods:We created a CAP to be included in the after visit summary of children seen in our GI Clinic. We compared the number of patient telephone calls, electronic messages, and urgent care (UC) visits, emergency department (ED) visits, and hospitalizations within 3 months after the visit of patients who received the CAP compared to those who did not using inverse probability treatment weighting (IPTW) analysis. For families who received the CAP at a follow‐up visit, we compared these variables in the 3 months before and after the CAP was provided using paired t test and McNemar’s test as appropriate.Results:We included 336 patients who received the CAP and 2812 who did not. After IPTW adjustment, there were fewer patient telephone calls for patients who received the CAP (P = 0.0006). The difference in patient electronic messages was not statistically significant (P = 0.09). For the 45 patients who received the CAP at a follow‐up visit, there were on average 1.8 more patient telephone calls made prior to receiving the CAP than after (95% confidence interval (CI) = 0.8–2.8; P = 0.0007) and 2.3 more patient electronic messages received (95% CI = 0.1–4.5; P = 0.04). There were no differences in UC/emergency department visits or hospitalizations.Conclusions:We found that providing a CAP to families of children with constipation decreases health care utilization. Further studies are needed to determine whether this impacts patient outcomes.
Uterine Tumors Resembling Ovarian Sex Cord Tumors
Authors: Boyraz Baris , Watkins Jaclyn C. , Young Robert H. , Oliva Esther 
Published: October 2022

Uterine tumors resembling ovarian sex cord tumors (UTROSCTs), first characterized by Drs Clement and Scully in 1976, are rare neoplasms showing clinical, morphologic, and immunohistochemical overlap with a number of other uterine tumors, most being mesenchymal. Criteria for aggressive behavior are not clearly established. We report 75 tumors from patients ranging from 21 to 84 (mean=52.4) years. Seventy-one patients were treated by hysterectomy and 4 by conservative total excision. Thirty-eight tumors were intramyometrial, 34 submucosal, and 3 cervical; they ranged from 0.6 to 20 (mean=4.9) cm and were typically tan-yellow. Sixty-eight neoplasms were well-circumscribed and 7 had infiltrative borders (4 only minimally). In 56 tumors, a smooth muscle component was intimately admixed with the neoplastic cells (“pseudoinfiltration”; extensive in 29). Architectural patterns included cords (n=53), diffuse (n=51), hollow tubules (n=48), nests (n=38), trabeculae (n=37), retiform (n=23), solid tubules (n=21), pseudoangiomatoid (n=11), pseudopapillary (n=4), and whorled (n=2); typically, more than 1 pattern was seen. Tumor cells were epithelioid (n=62), epithelioid and spindled (n=12), or spindled (n=1) and/or rhabdoid (n=20; extensive in 2). Cytologic atypia was absent to mild in 57, moderate in 16, and moderate to severe in 2 tumors. Fifty-seven UTROSCTs had ≤2mitoses/10 high power fields (HPF), 12 had 3 to 5/10 HPF, and 6 >5/10 HPF. Necrosis was present in 3 and lymphovascular invasion in 1. Tumor cells showed a polyphenotypic immunohistochemical profile (with positivity for sex cord, smooth muscle, and epithelial markers), most commonly inhibin (17/33+) and calretinin (22/31+) positive. Five of 58 patients with follow-up (22 to 192; mean=73.2 mo) had recurrences/metastases from 30 to 144 months, and 2 died of disease. Malignant tumors showed >3 of the following 5 features compared with benign tumors: size >5 cm, at least moderate cytologic atypia, ≥3 mitoses/10 HPF, infiltrative borders, and necrosis. One of the 5 malignant tumors showed an extensive rhabdoid morphology. UTROSCTs are uncommon, show a wide morphologic spectrum, often pose problems in differential diagnosis, and typically have a benign outcome. Rare tumors are associated with late recurrences and a combination of more than 3 of the 5 features listed above predicted aggressive behavior in this series.
Clinical and microbiological characteristics of Staphylococcus lugdunensis
Authors: Cronin Katie M. , Moso Michael A. , Chan Eddie , Bond Katherine A. 
Published: October 2022

Purpose of review
This review provides an update on recent findings about the clinical and microbiological characteristics of Staphylococcus lugdunensis.

Recent findings
European Committee on Antimicrobial Susceptibility Testing (EUCAST) and Clinical and Laboratory Standards Institute (CLSI) differ in their methodology and breakpoints for the detection of penicillin and oxacillin resistance in S. lugdunensis. The EUCAST method for beta-lactamase detection recommends a 1-unit penicillin disk and has demonstrated superior performance compared to the 10-unit penicillin disk recommended by CLSI. A similar outcome has been previously reported in Staphylococcus aureus. In addition, there is emerging oxacillin resistance in some geographical areas. Of particular concern is that oxacillin resistance in mecA positive isolates may not be reliably detected by current cefoxitin breakpoints.

Summary
Coagulase negative staphylococci are now recognised as a heterogenous group of organisms that do not microbiologically or clinically behave the same way. The spectrum of clinical disease is species dependent and is particularly true for S. lugdunensis, which causes an array of clinical infections like that of S. aureus. Further studies are needed to assess the performance of phenotypic tests to detect resistance, to ensure that appropriate antimicrobial therapy is delivered to patients.
Outcomes of Nocardiosis and Treatment of Disseminated Infection in Solid Organ Transplant Recipients
Authors: Yetmar Zachary A. , Challener Douglas W. , Seville Maria Teresa , Bosch Wendelyn , Beam Elena 
Published: October 2022

Background.

Nocardia is an environmental pathogen with a predilection for causing opportunistic infections in immunocompromised patients, including solid organ transplant (SOT) recipients. Although risk factors have been identified for developing nocardiosis in this population, little is known regarding clinical factors resulting in poor outcomes. We evaluated a cohort of SOT recipients with nocardiosis for associations with 12-month mortality.

Methods.
We performed a multicenter retrospective cohort study of adult SOT recipients diagnosed with culture-confirmed nocardiosis from 2000 to 2020. Patients were followed for 12 months after diagnosis, unless abbreviated by mortality. Multivariable Cox regression was performed to analyze associations with 12-month mortality. A subgroup analysis of patients with disseminated nocardiosis was performed to analyze treatment variables.

Results.
A total of 125 SOT recipients met inclusion criteria; 12-month mortality was 16.8%. Liver transplantation (hazard ratio [HR] 3.52; 95% confidence interval [CI] 1.27-9.76) and time from symptom onset to presentation (HR 0.92/d; 95% CI 0.86-0.99) were independently associated with 12-month mortality, whereas disseminated infection was not (HR 1.23; 95% CI 0.49-3.13). No treatment-specific factors were significantly associated with mortality in 33 patients with disseminated nocardiosis, although survivors had a higher rate of linezolid use.

Conclusions.
This study identified 2 independent associations with 12-month mortality, representing demographics and infection severity. Disseminated infection was not independently associated with poor outcomes, and specific sites of infection may be more important than dissemination itself. No treatment-specific factors were associated with mortality, though this analysis was likely underpowered. Further study of treatment strategies based on specific Nocardia syndromes is warranted.
First report of a carbapenemase OXA-48 producing-Hafnia alvei clinical isolate.
Authors: Sevillano Laura , Herrera Cristhian , Valdes Álvaro , de la Hoz Ángela , Cardeñoso Laura , Domingo Diego , Semiglia Maria Auxiliadora 
Published: October 2022

Introduction: Carbapenems are usually used in the treatment of infections caused by cephalosporin-resistant Enterobacterales; however, the increase in carbapenem-resistant enterobacterales (CRE) has become one of the most important problems in public health. Hafnia alvei is associated with intestinal and extraintestinal infections, especially in patients with any chronic disease or some type of inmunosupression. H. alvei is resistant to first-generation aminopenicillins and cephalosporins because of the β-lactamase (Amp C) in their chromosome, the only carbapenem-resistant Hafnia strain described until now was due to the lack of OmpK36 protein that plays an important role in permeability to carbapenems.
Case presentation: We present the case of a 65 years old male diagnosed with acute lithiasic cholecystitis. The culture of the biliary prosthesis yielded a OXA-48-producing H. alvei that was identified by MALDI-TOF (matrix-assisted laser desorption/ionization-time of flight) mass spectrometry. Carbapenemase production was detected by immunochromatography and confirmed by sequencing.
Conclusion: To our knowledge, this is the first report of OXA-48-producing H. alvei probably obtained by horizontal transference from E. cloacae -OXA-48 isolated in previous samples.
Multivariate variance components analysis uncovers genetic architecture of brain isoform expression and novel psychiatric disease mechanisms
Authors: Kim Minsoo , Vo Daniel D. , Jops Connor T. , Wen Cindy , Patowary Ashok , Bhattacharya Arjun , Yap Chloe X. , Zhou Hua , Gandal Michael J. 
Published: October 2022

AbstractMultivariate variance components linear mixed models are fundamental statistical models in quantitative genetics, widely used to quantify SNP-based heritability (h2SNP) and genetic correlation (rg) across complex traits. However, maximum likelihood estimation of multivariate variance components models remains numerically challenging when the number of traits and variance components are both greater than two. To address this critical gap, here we introduce a novel statistical method for fitting multivariate variance components models. This method improves on existing methods by allowing for arbitrary number of traits and/or variance components. We illustrate the utility of our method by characterizing for the first time the genetic architecture of isoform expression in the human brain, modeling up to 23 isoforms jointly across ∼900 individuals within PsychENCODE. We find a significant proportion of isoforms to be under genetic control (17,721 of 93,293 isoforms) with substantial shared genetic effects among local (orcis-) relative to distal (ortrans-) genetic variants (medianrg,cisandrg,trans= 0.31 and 0.06). Importantly, we find that 11.6% of brain-expressed genes (2,900 genes) are heritable only at the isoform-level. Integrating these isoform-specific genetic signals with psychiatric GWAS signals uncovers previously hidden psychiatric disease mechanisms. Specifically, we highlight reduced expression of a specificXRN2isoform as the underlying driver of the strongest GWAS signal for autism spectrum disorder. Overall, our method for fitting multivariate variance components models is flexible, widely applicable, and is implemented in the Julia programming language and available online.
PROLONGED LENGTH OF HOSPITAL STAY AND ASSOCIATED FACTORS AMONG PATIENTS ADMITTED AT A SURGICAL WARD IN SELECTED PUBLIC HOSPITALS ARSI ZONE, OROMIA, ETHIOPIA, 2022
Authors: Fetene Deriba , Tekalegn Yohanis , Abdela Jabir , Aynalem Amdehiwot , Bekele Gezahegn , Molla Ezedin 
Published: October 2022

AbstractBackgroundProlonged length of hospital stay is the most common indicator of poor quality of health care and inefficient utilization of hospital resources. Prolonged hospital stay associated with increased mortality, hospital-acquired infection, and unnecessary utilization of hospital bed and other resources. Predicting length of hospital stay facilitates resource designing and initiates quality improvement activities. However, data regarding the prolonged length of hospital stays, and associated factors were a scarce in Ethiopia.MethodsA hospital-based cross-sectional study was conducted on a sample of 316 adult patients from December 1 to January 10, 2022. A consecutive sampling technique was used during sampling procedure. A structured questionnaire was used to collect data regarding sociodemographic factors, clinical factors, medication factors, and behavioral factors through interview, medical record review and by using check list. The data was entered into the epidata4.6 version and exported to SPSS Version25 for binary logistic regression analysis. To identify factors associated with outcome variable, candidate variables (p<0.25) were fitted to multivariable analysis, and those with P-values<0.05 were considered as factors associated with prolonged length of hospital stay. Odds ratio with corresponding 95% CI was used to indicate the strength of association of variables with prolonged length of hospital stay.ResultOne fourth (24.7%) of the study participants experienced a prolonged length of stay at surgical ward. The odd of a prolonged length of hospital stay was high among patients who had comorbid condition [AOR=4.59, at 95% CI= (2.46-8.56)], who developed surgical site infection [AOR=5.02 at 95% CI= 1.97-12.80)], and who developed hospital acquired pneumonia during hospital stay [AOR= 3.43 at 95% CI= (1.36-8.64)].Conclusion and recommendationNear to quarter of the study participants’ experienced prolonged length of hospital stays. Comorbid condition, surgical site infection, and hospital acquired pneumonia were factors associated with prolonged length of hospital stay at surgical ward. Quality of care could be improved by adjusting surgical ward environment to prevent hospital acquired infection and focus on managing complication after surgery. Health care provider should be educating surgical patient about the risk of comorbidity on wound healing and early diagnosis and prevention of comorbid condition.
A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts
Authors: Upadhyay Kapil K. , Du Xiaomeng , Chen Yanhua , Zhao Raymond , Speliotes Elizabeth K. , Brady Graham F. 
Published: October 2022

AbstractNonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH) represent a genetically and phenotypically diverse entity with no approved therapy, making it imperative to define the spectrum of pathways contributing to its pathogenesis. Rare variants in genes encoding nuclear envelope proteins cause lipodystrophy that includes early-onset NASH; we hypothesized that common variants in nuclear envelope-related genes might also contribute to hepatic steatosis and NASH. In an association meta-analysis of nuclear envelope-related coding variants in three large cohorts (N>120,000 participants), rs6461378 (SUN1H118Y) was the top steatosis-associated variant (P<0.001). In ancestrally distinct validation cohorts, rs6461378 positively associated with NASH-related metabolic traits including increased serum fatty acids, decreased HDL, type 2 diabetes, hypertension, and cardiovascular disease. SUN1 H118Y was subject to increased proteasomal degradation relative to wild-type SUN1 in Huh7 cells, and SUN1 H118Y-expressing cells exhibited insulin resistance and increased lipid accumulation. Collectively, these data support a potential causal role for rs6461378 in NASH and metabolic disease.Lay SummaryA common genetic variant that leads to an amino acid change in the nuclear envelope protein SUN1 was found to positively associate with hepatic steatosis in a meta-analysis of genomic data from multiple large cohorts. Follow-up studies in separate validation cohorts demonstrated strong positive associations with metabolic traits that are linked to nonalcoholic fatty liver disease, including insulin resistance, type 2 diabetes, hypertension, and cardiovascular disease. Testing of this variant in cell culture demonstrated biochemical differences from wild-type SUN1, with increased proteasomal degradation of the H118Y variant, decreased sensitivity to insulin, and increased lipid accumulation, suggesting that this is a functional variant with a potential causal role in human disease.
TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum
Authors: Mechaussier Sabrina , Dodd Daniel O , Yeyati Patricia L , McPhie Fraser , Attard Thomas , Shoemark Amelia , Gupta Deepesh K , Zariwala Maimoona A , Legendre Marie , Bracht Diana , Wallmeier Julia , Gui Miao , Anderson Jacob R , Fassad Mahmoud R , Parry David A , Tennant Peter A , Meynert Alison , Wheway Gabrielle , Fares-Taie Lucas , Black Holly A , Mitri-Frangieh Rana , Faucon Catherine , Kaplan Josseline , Patel Mitali , McKie Lisa , Megaw Roly , Gatsogiannis Christos , Mohamed Mai A , Aitken Stuart , Gautier Philippe , Reinholt Finn R , Hirst Robert A , O’Callaghan Chris , Heimdal Ketil , Bottier Mathieu , Escudier Estelle , Crowley Suzanne , Descartes Maria , Jabs Ethylin W , Kenia Priti , Amiel Jeanne , Blümlein Ulrike , Rogers Andrew , Wambach Jennifer A , Wegner Daniel J , Fulton Anne B , Kenna Margaret , Rosenfeld Margaret , Holm Ingrid A , Quigley Alan , Cassidy Diana M , von Kriegsheim Alex ,   Scottish Genomes Partnership,   Genomics England Research Consortium,   Undiagnosed Diseases Network, Papon Jean-Francois , Pasquier Laurent , Murris Marlène S , Chalmers James D , Hogg Clare , Macleod Kenneth , Urquhart Don S , Unger Stefan , Aitman Timothy J , Amselem Serge , Rozet Jean-Michel , Amselem Serge , Leigh Margaret W , Knowles Michael R. , Omran Heymut , Mitchison Hannah M , Brown Alan , Marsh Joseph A , Welburn Julie P I , Horani Amjad , Rozet Jean-Michel , Perrault Isabelle , Mill Pleasantine 
Published: October 2022

AbstractCilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type of ciliopathy caused by defects in motile cilia. The genetic basis of PCD is only partially understood. Studying a cohort of 11 human patients with PCD, we find thatde novomutations inTUBB4B, a beta tubulin isotype, cause three distinct classes of ciliopathic disease.In vivostudies in mice show thatTubb4bplays a specific role in cilia, building centrioles and axonemes in multiciliated cells. Examining the effects of specific TUBB4B variants in cells and in mice, we further demonstrate that distinctTUBB4Bmutations differentially affect microtubule dynamics and cilia formation in a dominant negative manner. Finally, structure-function studies reveal that different TUBB4B mutations disrupt distinct tubulin interfaces. Importantly, these molecular differences correlate with disease features. We show that tubulin heterodimer-impairing TUBB4B variants underlie nonsyndromic PCD, whilst additional renal and sensorineural ciliopathic features in a syndromic PCD subtype arise from microtubule lumenal interface-impaired TUBB4B variants. These findings suggest that specific tubulin isotypes have distinct and non-redundant subcellular functions, and demonstrate that human tubulinopathies can be drivers of ciliopathic syndromes.
Health System Determinants of Hypertension Care and Outcomes in Sub-Saharan Africa: A Systematic Review
Authors: Byiringiro Samuel , Ogungbe Oluwabunmi , Commodore-Mensah Yvonne , Adeleye Khadijat , Sarfo Fred Stephen , Himmelfarb Cheryl R. 
Published: October 2022

AbstractBackgroundHypertension is a significant global health problem, particularly in Sub-Saharan Africa (SSA). Despite the effectiveness of medications and lifestyle interventions in reducing blood pressure, shortfalls across health systems continue to impede progress in achieving optimal hypertension control rates. The current review explores health system factors contributing to hypertension outcomes in SSA.MethodsThe World Health Organization health systems framework guided the literature search and discussion of findings. We searched PubMed, CINAHL, and Embase databases for studies published between January 2010 and June 2022 and followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We assessed studies for risk of bias using the tools from Joanna Briggs Institute.ResultsThirty-nine studies clustered in 10 SSA countries met inclusion criteria. Health system determinants included human resource factors such as providers’ knowledge and adherence to hypertension treatment guidelines (n=21) and task sharing and shifting strategies (n=10). The second health system factors explored in service delivery were the health facility type and capacity (n=7) and hypertension service accessibility by cost, place, and time of services (n=15). A quarter of the included studies explored supply chain management for access to essential equipment and medicines. An additional set of studies addressed quality improvement strategies involving cross-integration of services (n=7) and various strategies of gauging the systems for better hypertension outcomes (n=8).ConclusionA combination of multiple rather than solo system interventions may yield significant improvements in blood pressure outcomes. Health information management and leadership involvement were less explored. Additional research on health system determinants of hypertension is needed to drive global improvements in hypertension outcomes. Future research would benefit from more rigorous implementation type interventional studies comprehensively assessing health system factors that contribute to better hypertension outcomes.
Lessons from web scraping coroners’ Prevention of Future Deaths reports
Authors: Zhang Qingyang , Richards Georgia C. 
Published: October 2022

AbstractIn England and Wales, coroners are required to write Prevention of Future Deaths reports (PFDs) when a death is deemed preventable so that action is taken to avert similar deaths. Since July 2013, PFDs have been openly available via the Courts and Tribunals Judiciary website (https://www.judiciary.uk/subject/prevention-of-future-deaths/). However, their presentation has been insufficient to identify trends and learn lessons. We designed a web scraper to create the Preventable Deaths Tracker (https://preventabledeathstracker.net/). On 22 June 2022, 4001 PFDs were scraped, analysed, and compared to the Office of National Statistics (ONS) preventable mortality statistics. This commentary summarises the key findings and offers recommendations to improve the PFD system so lessons can be learnt to avert preventable deaths.