bluuebunny/crossref_metadata_2025_split huggingface dataset:
Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics
Authors: Cummings Katherine , Watkins Alice , Jones Chris , Dias Renuka , Welham Alice 
Published: January 2022

Abstract
Background
Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). In addition to hamartomas, PTEN aberrations have been associated with a range of non-tumoural phenotypes such as macrocephaly, and research indicates possibly increased rates of developmental delay and autism spectrum disorder (ASD) for people with germline mutations affecting PTEN.

Method
A systematic review of literature reporting behavioural and psychological variables for people with constitutional PTEN mutations/PHTS was conducted using four databases. Following in-depth screening, 25 articles met the inclusion criteria and were used in the review. Fourteen papers reported the proportion of people with PTEN mutations/PTHS meeting criteria for or having characteristics of ASD and were thus used in a pooled prevalence meta-analysis.

Results
Meta-analysis using a random effects model estimated pooled prevalence of ASD characteristics at 25% (95% CI 16–33%), although this should be interpreted cautiously due to possible biases in existing literature. Intellectual disability and developmental delay (global, motor and speech and language) were also reported frequently. Emotional difficulties and impaired cognitive functioning in specific domains were noted but assessed/reported less frequently. Methods of assessment of psychological/behavioural factors varied widely (with retrospective examination of medical records common).

Conclusions
Existing research suggests approximately 25% of people with constitutional PTEN mutations may meet criteria for or have characteristics of ASD. Studies have also begun to establish a range of possible cognitive impairments in affected individuals, especially when ASD is also reported. However, further large-scale studies are needed to elucidate psychological/behavioural corollaries of this mutation, and how they may relate to physiological/physical characteristics.
Ocular inflammatory events following COVID-19 vaccination: a multinational case series
Authors: Testi Ilaria , Brandão-de-Resende Camilo , Agrawal Rupesh , Pavesio Carlos ,   for the COVID-19 Vaccination Ocular Inflammatory Events Study Group, Steeples Laura , Balasubramaniam Balini , McCluskey Peter , Pichi Francesco , Agarwal Aniruddha , Herbort Carl , Cimino Luca , Iriqat Salam , Thorne Jennifer E. , Echegaray Jose , Babu Kalpana , Bialasiewicz Alexander Arthur , Goldstein Debra A. , Ghadiri Nima , Fonollosa Calduch Alex , Andrade Gabriel Costa de , Mahendradas Padmamalini , González-López Julio J. , Carreño Ester , Hamam Rola N. , Stübiger Nicole , Bodaghi Bahram , Chao Yu-Jang , Takeuchi Masaru , Tay-Kearney Mei-Ling , Portero Alejandro , Keino Hiroshi , Esteban-Ortega Mar , Przeździecka-Dołyk Joanna , Radosavljević Aleksandra , Paredes Ian , Agrawal Rupesh , Ling Ho Su , Kiong Wei , Tien Melissa , Ng Xin Le , Pavesio Carlos , Testi Ilaria , Chee Soon Phaik , Siak Jay , Hernanz-Rodriguez Ines , Menezo Victor , Tappeiner Christoph , Cruz Franz Marie , Addison Peter , Kuijpers Robert , Vasconcelos-Santos Daniel Vitor 
Published: January 2022

Abstract
Background
Inflammatory adverse events following COVID-19 vaccination are being reported amidst the growing concerns regarding vaccine’s immunogenicity and safety, especially in patients with pre-existing inflammatory conditions.

Methods
Multinational case series of patients diagnosed with an ocular inflammatory event within 14 days following COVID-19 vaccination collected from 40 centres over a 3 month period in 2021.

Results
Seventy patients presented with ocular inflammatory events within 14 days following COVID-19 vaccination. The mean age was 51 years (range, 19–84 years). The most common events were anterior uveitis (n = 41, 58.6%), followed by posterior uveitis (n = 9, 12.9%) and scleritis (n = 7, 10.0%). The mean time to event was 5 days and 6 days (range, 1–14 days) after the first and second dose of vaccine, respectively. Among all patients, 36 (54.1%) had a previous history of ocular inflammatory event. Most patients (n = 48, 68.6%) were managed with topical corticosteroids. Final vision was not affected in 65 (92.9%), whereas 2 (2.9%) and 3 (4.3%) had reduction in visual acuity reduced by ≤3 lines and > 3 lines, respectively. Reported complications included nummular corneal lesions (n = 1, 1.4%), cystoid macular oedema (n = 2, 2.9%) and macular scarring (n = 2, 2.9%).

Conclusion
Ocular inflammatory events may occur after COVID-19 vaccination. The findings are based on a temporal association that does not prove causality. Even in the possibility of a causal association, most of the events were mild and had a good visual outcome.
Practice patterns regarding regional corticosteroid treatment in noninfectious Uveitis: a survey study
Authors: McHarg Matthew , Young LeAnne , Kesav Natasha , Yakin Mehmet , Sen H. Nida , Kodati Shilpa 
Published: January 2022

Abstract
Background
Regional corticosteroid therapy for noninfectious uveitis is well-established but usage patterns have not been studied extensively. This study aims to assess practice patterns of retina and uveitis specialists regarding their preferences on the use of local corticosteroid therapy.

Methods
A 13-question survey was developed regarding the practice patterns of regional corticosteroid use in specific situations and populations. The survey was distributed to both the American Uveitis Society and Macula Society.

Results
Responses from 87 ophthalmologists were analyzed. The two most commonly used drugs were the dexamethasone intravitreal implant (Ozurdex®) and posterior sub-tenon’s triamcinolone (also known as posterior sub-Tenon’s Kenalog, or PSTK). Regional corticosteroids were used more frequently as first-line treatment in more than half of posterior uveitis cases when compared to anterior uveitis (39.1–46.0% vs 10.3%, respectively). Respondents were more willing to use regional corticosteroids in more than half of unilateral uveitis cases than in bilateral cases (54.7% vs 18.6%, respectively). A majority of respondents (67.1%) stated that they would avoid using regional corticosteroids in patients under 8 years old.

Conclusions
Our results demonstrate more frequent regional corticosteroid use in posterior segment uveitis, unilateral cases, and avoidance in younger pediatric patients. Overall, the variability in these responses highlights the need for guidelines regarding regional corticosteroid use.
Inferring the genetic responses to acute drought stress across an ecological gradient
Authors: Devitt Jessica K. , Chung Albert , Schenk John J. 
Published: January 2022

Abstract
Background
How do xerophytic species thrive in environments that experience extreme annual drought? Although critical to the survival of many species, the genetic responses to drought stress in many non-model organisms has yet to be explored. We investigated this question in Mentzelia section Bartonia (Loasaceae), which occurs throughout western North America, including arid lands. To better understand the genetic responses to drought stress among species that occur in different habitats, the gene expression levels of three species from Mentzelia were compared across a precipitation gradient. Two de novo reference transcriptomes were generated and annotated. Leaf and root tissues were collected from control and drought shocked plants and compared to one another for differential expression. A target-gene approach was also implemented to better understand how drought-related genes from model and crop species function in non-model systems.

Results
When comparing the drought-shock treatment plants to their respective control plants, we identified 165 differentially expressed clusters across all three species. Differentially expressed genes including those associated with water movement, photosynthesis, and delayed senescence. The transcriptome profiling approach was coupled with a target genes approach that measured expression of 90 genes associated with drought tolerance in model organisms. Comparing differentially expressed genes with a ≥ 2 log-fold value between species and tissue types showed significant differences in drought response. In pairwise comparisons, species that occurred in drier environments differentially expressed greater genes in leaves when drought shocked than those from wetter environments, but expression in the roots mostly produced opposite results.

Conclusions
Arid-adapted species mount greater genetic responses compared to the mesophytic species, which has likely evolved in response to consistent annual drought exposure across generations. Drought responses also depended on organ type. Xerophytes, for example, mounted a larger response in leaves to downregulate photosynthesis and senescence, while mobilizing carbon and regulating water in the roots. The complexity of drought responses in Mentzelia suggest that whole organism responses need to be considered when studying drought and, in particular, the physiological mechanisms in which plants regulate water, carbon, cell death, metabolism, and secondary metabolites.
Observing errors in a combination of error and correct models favors observational motor learning
Authors: Tang Zhi-Ming , Oouchida Yutaka , Wang Meng-Xin , Dou Zu-Lin , Izumi Shin-Ichi 
Published: January 2022

Abstract
Background
Imitative learning is highly effective from infancy to old age; however, little is known about the effects of observing errors during imitative learning. This study aimed to examine how observing errors affected imitative learning performance to maximize its effect.

Methods
In the pre-training session, participants were instructed to pinch at a target force (8 N) with auditory feedback regarding generated force while they watched videos of someone pinching a sponge at the target force. In the pre-test, participants pinched at the target force and did not view a model or receive auditory feedback. In Experiment 1, in the main training session, participants imitated models while they watched videos of pinching at either the incorrect force (error-mixed condition) or target force (correct condition). Then, the exact force generated was measured without receiving auditory feedback or viewing a model. In Experiment 2, using the same procedures, newly recruited participants watched videos of pinching at incorrect forces (4 and 24 N) as the error condition and the correct force as the correct condition.

Results
In Experiment 1, the average force was closer to the target force in the error-mixed condition than in the correct condition. In Experiment 2, the average force in the correct condition was closer to the target force than in the error condition.

Conclusion
Our findings indicated that observing error actions combined with correct actions affected imitation motor learning positively as error actions contained information on things to avoid in the target action. It provides further information to enhance imitative learning in mixed conditions compared to that with correct action alone.
Investigating the cognitive capacity constraints of an ICU care team using a systems engineering approach
Authors: Park Jaeyoung , Zhong Xiang , Dong Yue , Barwise Amelia , Pickering Brian W. 
Published: January 2022

Abstract
Background
ICU operational conditions may contribute to cognitive overload and negatively impact on clinical decision making. We aimed to develop a quantitative model to investigate the association between the operational conditions and the quantity of medication orders as a measurable indicator of the multidisciplinary care team’s cognitive capacity.

Methods
The temporal data of patients at one medical ICU (MICU) of Mayo Clinic in Rochester, MN between February 2016 to March 2018 was used. This dataset includes a total of 4822 unique patients admitted to the MICU and a total of 6240 MICU admissions. Guided by the Systems Engineering Initiative for Patient Safety model, quantifiable measures attainable from electronic medical records were identified and a conceptual framework of distributed cognition in ICU was developed. Univariate piecewise Poisson regression models were built to investigate the relationship between system-level workload indicators, including patient census and patient characteristics (severity of illness, new admission, and mortality risk) and the quantity of medication orders, as the output of the care team’s decision making.

Results
Comparing the coefficients of different line segments obtained from the regression models using a generalized F-test, we identified that, when the ICU was more than 50% occupied (patient census > 18), the number of medication orders per patient per hour was significantly reduced (average = 0.74; standard deviation (SD) = 0.56 vs. average = 0.65; SD = 0.48; p < 0.001). The reduction was more pronounced (average = 0.81; SD = 0.59 vs. average = 0.63; SD = 0.47; p < 0.001), and the breakpoint shifted to a lower patient census (16 patients) when at a higher presence of severely-ill patients requiring invasive mechanical ventilation during their stay, which might be encountered in an ICU treating patients with COVID-19.

Conclusions
Our model suggests that ICU operational factors, such as admission rates and patient severity of illness may impact the critical care team’s cognitive function and result in changes in the production of medication orders. The results of this analysis heighten the importance of increasing situational awareness of the care team to detect and react to changing circumstances in the ICU that may contribute to cognitive overload.
Chronic aseptic meningitis caused by enterovirus in a humorally immunosuppressed adult patient presenting with sensorineural hearing loss: a case report
Authors: Anderson Sean M. , Gold Daniel , Olson Gregory , Pisano Jennifer 
Published: January 2022

Abstract
Background
Enterovirus has been described as a cause of aseptic meningitis in humorally immunosuppressed patients.

Case presentation
A 67-year-old female with a history of mantle cell lymphoma on rituximab therapy presented with subacute hepatitis, myalgias, and sensorineural hearing loss several months after an initial febrile illness. She was diagnosed with enterovirus infection by CSF PCR as a unifying etiology of her presentation, representing an unusual presentation of disease.

Discussion and conclusions
This patient’s unique presentation and clinical course presents important implications in the care of similarly immunosuppressed patients with cryptic complaints.
Clinical outcomes of dengue virus infection in pregnant and non-pregnant women of reproductive age: a retrospective cohort study from 2016 to 2019 in Paraná, Brazil
Authors: Martin Beatris Mario , Evans Allan Arnold , de Carvalho Denise Siqueira , Shimakura Silvia Emiko 
Published: January 2022

Abstract
Background
The increasing number of dengue cases worldwide implies a greater exposure of at-risk groups, such as pregnant women. DENV infection during pregnancy has been increasingly associated with unfavorable outcomes, but the evolution of the disease and its clinical outcomes remain unclear. The objective of this study was to characterize dengue cases in reproductive aged women by comparing the development of the disease in pregnant and non-pregnant women.

Methods
A population based retrospective cohort study that used data reported in the Brazilian Mandatory Notifiable Diseases Information System from 2016 to 2019 in Paraná, Brazil. We compared sociodemographic, clinical, and laboratory variables between pregnant and non-pregnant women. Hospitalization and disease severity classification (Dengue, Dengue with warning signs, Severe Dengue) were considered outcome variables.

Results
The two groups had differences in the year of notification, age distribution, and region of residence. Laboratory investigation was more frequent among pregnant women, and DENV-2 prevailed in both groups. The risks of hospitalization and development of Severe Dengue were higher in pregnant women. There were no deaths observed among pregnant women.

Conclusion
This study identified pregnancy as a risk factor for an increase in the severity of DENV infection. It reinforces the importance of identifying early signs of complication, close monitoring, and adequate treatment for pregnant women.
Herpes simplex virus-infected squamous cell carcinoma: a case report
Authors: Brown Sarah H. , States Vanessa A. R. , Afghan Abaseen K. , Satyanarayana Gowri 
Published: January 2022

Abstract
Background
Herpes simplex virus (HSV)-1 is a highly prevalent, non-oncogenic virus that has higher morbidity in immunocompromised hosts. Its most common clinical manifestation is superficial ulceration of the integument or mucus membranes.

Case presentation
A 65-year-old woman with a history of acute myelogenous leukemia treated with allogenic peripheral blood stem cell transplant presented for resection of an ulcerated buccal squamous cell carcinoma. We report a case of HSV-1-infected malignant cells discovered on histopathological examination of the carcinoma specimen ultimately treated with valacyclovir.

Conclusions
HSV-1 is not considered an oncogenic virus itself but may increase risk of malignant progression. Cancer cells are vulnerable to superimposed viral infections, including HSV-1, which likely led to the findings in this case.
Gram stain to the rescue: a case report of cerebral phaeohyphomycosis by Cladophialophora bantiana in an immunocompetent 24-year-old
Authors: Mody Perceus , Wada Paul , Bloch Karen C. , Lionakis Michail S. , White Katie D. , Maris Alexander S. , Snyder Tonya , Steinhauer Jennifer , Humphries Romney 
Published: January 2022

Abstract
Background
Fungal brain abscesses in immunocompetent patients are exceedingly rare. Cladophialophora bantiana is the most common cause of cerebral phaeohyphomycosis, a dematiaceous mold. Radiological presentation can mimic other disease states, with diagnosis through surgical aspiration and growth of melanized fungi in culture. Exposure is often unknown, with delayed presentation and diagnosis.

Case presentation
We present a case of cerebral phaeohyphomycosis in a 24-year-old with no underlying conditions or risk factors for disease. He developed upper respiratory symptoms, fevers, and headaches over the course of 2 months. On admission, he underwent brain MRI which demonstrated three parietotemporal rim-enhancing lesions. Stereotactic aspiration revealed a dematiaceous mold on staining and the patient was treated with liposomal amphotericin B, 5-flucytosine, and posaconazole prior to culture confirmation. He ultimately required surgical excision of the brain abscesses and prolonged course of antifungal therapy, with clinical improvement.

Conclusions
Culture remains the gold standard for diagnosis of infection. Distinct microbiologic findings can aid in identification and guide antimicrobial therapy. While little guidance exists on treatment, patients have had favorable outcomes with surgery and combination antifungal therapy. In improving awareness, clinicians may accurately diagnose disease and initiate appropriate therapy in a more timely manner.
Surveillance of SARS-CoV-2 antibodies of patients in the local affected area during Wuhan lockdown
Authors: Tang Yueting , Sun Jiayu , Yuan Yumeng , Yao Fen , Zheng Bokun , Yang Gui , Xie Wen , Ye Guangming , Li Zhen , Jiao Xiaoyang , Li Yirong 
Published: January 2022

Abstract
Background
Serosurveillance is crucial in estimating the range of SARS-CoV-2 infections, predicting the possibility of another wave, and deciding on a vaccination strategy. To understand the herd immunity after the COVID-19 pandemic, the seroprevalence was measured in 3062 individuals with or without COVID-19 from the clinic.

Methods
The levels of SARS-CoV-2 antibody IgM and IgG were measured by the immuno-colloidal gold method. A fusion fragment of nucleocapsid and spike protein was detected by a qualitative test kit with sensitivity (89%) and specificity (98%).

Results
The seroprevalence rate for IgM and IgG in all outpatients was 2.81% and 7.51%, respectively. The sex-related prevalence rate of IgG was significantly higher (P < 0.05) in women than men. The highest positive rate of IgM was observed in individuals < 20 years of age (3.57%), while the highest seroprevalence for IgG was observed in persons > 60 years of age (8.61%). Positive rates of IgM and IgG in the convalescent patients were 31.82% and 77.27%, respectively, which was significantly higher than individuals with suspected syndromes or individuals without any clinical signs (P < 0.01). Seroprevalence for IgG in medical staff was markedly higher than those in residents. No significant difference of seroprevalence was found among patients with different comorbidities (P > 0.05).

Conclusions
The low positive rate of the SARS-CoV-2 IgM and nucleic acid (NA) test indicated that the SARS-CoV-2 outbreak is subsiding after 3 months, and the possibility of reintroduction of the virus from an unidentified natural reservoir is low. Seroprevalence provides information for humoral immunity and vaccine in the future.