cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.7924/r4cz38d99
title: Data and scripts from: Circuit and synaptic organization of forebrain-to-midbrain pathways that promote and suppress vocalization

description: Animals vocalize only in certain behavioral contexts, but the circuits and synapses through which forebrain neurons trigger or suppress vocalization remain unknown. Here we used transsynaptic tracing to identify two populations of inhibitory neurons that lie upstream of neurons in the periaqueductal gray that gate the production of ultrasonic vocalizations in mice (i.e., PAG-USV neurons). Activating PAG-projecting neurons in the preoptic hypothalamus (POAPAG neurons) elicited USV production in the absence of social cues. In contrast, activating PAG-projecting neurons in the central-medial boundary zone of the amygdala (AmgC/M-PAG neurons) transiently suppressed USV production without disrupting non-vocal social behavior. Optogenetics-assisted circuit mapping in brain slices revealed that POAPAG neurons directly inhibit PAG interneurons, which in turn inhibit PAG-USV neurons, whereas AmgC/M-PAG neurons directly inhibit PAG-USV neurons. These experiments identify two major forebrain inputs to the PAG that trigger and suppress vocalization, respectively, while also establishing the synaptic mechanisms through which these neurons exert opposing behavioral effects.
DOI: 10.6084/m9.figshare.21895206
title: Supplementary Material for: The Dynamic Interplay of Objective and Subjective Balance and Subsequent Task Performance: Implications for Fall Risk in Older Adults

description: Introduction. Falls occur in daily life when an activity results in a loss of balance that is too great to recover from. Our purpose in this study was to examine how fall risk differentiates the dynamic interplay of objective and subjective balance on a given day and subsequent task performance on that day. Methods. For 30 consecutive days, following a baseline fall risk assessment, 41 older adults (56% female, Age M = 75.22, SD = 6.75) self-assessed balance and task performance using a smartphone. The Activity-specific Balance Confidence scale measured subjective balance. Postural sway and chair-stand performance were measured within a smartphone using accelerometry. Data were analyzed using multilevel random coefficient models. Results. Tests of heterogeneity in level one residuals showed day-to-day variability in balance confidence and postural sway to be greater in individuals with higher fall risk at baseline. Baseline fall risk differentiated how the interplay of balance confidence and postural sway on a given day related to chair-stand performance on that day. For those with higher fall risk, on days that balance confidence was higher, greater postural sway was followed by greater chair-stand performance. Discussion / Conclusion. Findings indicate that older adults, especially those with higher fall risk, may be unaware of subtle fluctuations in balance, which could lead to engaging in activities that exceed the capacity to maintain balance at that moment. Fall prevention efforts should address older adults’ understanding of and responses to fluctuations of physical function in daily life.
DOI: 10.6084/m9.figshare.22093862
title: Supplementary Material for: PsoPlus: an Integrated Practice Unit for Psoriasis

description: There is a need to revise current healthcare organization due to the ever-rising costs and variation in quality of delivered care. Over the past decades there have been several strategic frameworks attempting to tackle this problem. Value-based healthcare (VBHC) is one those frameworks which has gained increasing popularity the last years. The framework is formulated on the premise that the healthcare sector should deliver integrated care, using integrated practice units (IPUs), and strive to maximize the value created. Value in this context is defined as the health outcomes achieved per costs made. We have designed a lean IPU called PsoPlus in which psoriasis patients are managed by a multidisciplinary team which has all the expertise and skill to manage psoriasis and its associated conditions. In addition, we have developed and implemented guidelines for the management of psoriasis associated comorbidities enabling us to deliver integrated care in the Belgian healthcare setting. Finally, we have designed a supporting information technology platform, called PsoSmart, that brings data from patients and healthcare providers together and provides actionable insights for clinical decision making. The created value is documented and captured using a value-based outcome set. Cost assessments at the individual patient level are also performed. To conclude, we describe here a comprehensive IPU setting for psoriasis which incorporates the VBHC principles. This IPU goes further and delivers a higher level of integrated care than other multidisciplinary psoriasis clinics. Monitoring outcomes and costs provides us with further insights to optimize psoriasis care. In addition, a software program designed to enhance psoriasis care is being developed further, however, advances in healthcare technology are needed.
DOI: 10.6084/m9.figshare.22656496
title: Supplementary Material for: Functional Polymorphisms of the Arachidonic Acid Pathway Associate with Risks and Clinical Outcomes of Allergic Diseases

description: Introduction: The arachidonic acid (AA) pathway plays a crucial role in allergic inflammatory diseases, however, the functional roles of allergy-associated single nucleotide polymorphisms (SNPs) in this pathway remain incompletely illustrated. Methods: This study belongs to a part of an ongoing Singapore/Malaysia cross-sectional genetics and epidemiological study (SMCSGES). We performed population genotyping on n=2880 individuals from the SMCSGES cohort to assess the associations of SNPs in the AA pathway genes with asthma and allergic rhinitis (AR). Spirometry assessments were performed to identify associations between SNPs and lung function among n=74 pediatric asthmatic patients from the same cohort. Allergy-associated SNPs were functionally characterized using in vitro promoter luciferase assay, along with DNA methylome and transcriptome data of n=237 peripheral blood mononuclear cell (PBMC) samples collected from a subset of the SMCSGES cohort. Results: Genetic association analysis showed 5 tag-SNPs from 4 AA pathway genes were significantly associated with asthma (rs689466 at COX2, rs35744894 at HPGDS, rs11097414 at HPGDS, rs7167 at CRTH2, and rs5758 at TBXA2R, p &lt; 0.05), whereas 3 tag-SNPs from HPGDS (rs35744894, rs11097414, and rs11097411) and 2 tag-SNPs from PTGDR (rs8019916 and rs41312470) were significantly associated with AR (p &lt; 0.05). The asthma-associated rs689466 regulates COX2 promoter activity and associates with COX2 mRNA expression in PBMC. The allergy-associated rs1344612 was significantly associated with poorer lung function, increased risks of asthma and AR, and increased HPGDS promoter activity. The allergy-associated rs8019916 regulates PTGDR promoter activity and DNA methylation levels of cg23022053 and cg18369034 in PBMC. The asthma-associated rs7167 affects CRTH2 expression by regulating the methylation level of cg19192256 in PBMC. Conclusions: The present study identified multiple allergy-associated SNPs that modulate the transcript expressions of key genes in the AA pathway. The development of a “personalized medicine” approach with consideration of genetic influences on the AA pathway may hopefully result in efficacious strategies to manage and treat allergic diseases.
DOI: 10.6084/m9.figshare.22658443
title: Supplementary Material for: Granulomatous pigmented purpuric dermatosis (GPPD) in a patient with (inactive) myasthenia gravis : Case report and review of the literature

description: Granulomatous pigmented purpuric dermatosis (GPPD) is a rare histologic variant of pigmented purpuric dermatosis (PPD) characterized by dermal histiocyte-rich interstitial infiltration with or without granuloma formation in addition to the other typical features of PPD. GPPD was previously observed more frequently to affect Asians and was reported to be associated with dyslipidemia. However, our literature search of 45 documented GPPD cases revealed an increasing prevalence in Caucasians in addition to dyslipidemia and associated autoimmune diseases. To date, etiopathogenesis of GPPD is unknown, but may involve dyslipidemia, genetic and immunological factors such as autoimmune dysregulation or a sarcoidal reaction associated to with C. acnes. GPPD is usually persistent and recalcitrant to treatments. We report a case of GPPD in a 57-year-old Thai woman with underlying myasthenia gravis who presented with a pruritic eruption on both lower legs. After treatment with 0.05% clobetasol propionate cream and oral colchicine, the lesion improved with marked flattening and disappeared with residual postinflammatory hyperpigmentation. We provide a literature review of the epidemiology, etiopathogenesis, concomitant comorbidities, clinical symptoms, dermatoscopic features, and treatments of GPPD.
DOI: 10.6084/m9.figshare.24210600
title: Supplementary Material for: An unusual complication of self-expandable metal stent(SEMS) placement in malignant sigmoid obstruction

description: SEMS for malignant colorectal obstruction is widely used as a bridge to elective surgery or palliative treatment. However, with the increasing use of SEMS for treatment, complication rates associated with stents have been raised as a concern. We experienced a rare migration-related complication that a stent partially migrated out of the anus with an incarceration. A 62-year-old man was admitted with sigmoid malignant obstruction. Due to multiple metastases, he refused to undergo colostomy, and an uncovered SEMS was placed. Subsequently, he started chemotherapy. Seven months after placement, the stent migrated into the rectum. After unsuccessful attempts to extract the stent, he sought our assistance. We observed that half of the stent was outside the anus, and a 15mm lump of mucosa was embedded in the proximal end of the stent. After several attempts, we successfully removed the SEMS. Stent incarceration following migration is not a common occurrence, but it serves as a reminder that clinicians need to be more vigilant about complications that may arise after stent implantation. We describe this unusual complication and share our experience about the removal of the stent.
DOI: 10.6084/m9.figshare.21132046
title: Supplementary Material for: Dietary fat composition affects hepatic angiogenesis and lymphangiogenesis in HCV core gene transgenic mice

description: Introduction: Previous research has demonstrated that an isocaloric diet rich in trans fatty acid (TFA), saturated fatty acid (SFA), and cholesterol (Chol) promoted steatosis-derived hepatic tumorigenesis in hepatitis C virus core gene transgenic (HCVcpTg) mice in different manners. Growth factor signaling and ensuing angiogenesis/lymphangiogenesis are key factors in hepatic tumorigenesis that have become recent therapeutic targets for hepatocellular carcinoma. However, the influence of dietary fat composition on these factors remains unclear. This study investigated whether the type of dietary fat would have a specific impact on hepatic angiogenesis/lymphangiogenesis in HCVcpTg mice. Methods: Male HCVcpTg mice were treated with a control diet, an isocaloric diet containing 1.5% cholesterol (Chol diet), or a diet replacing soybean oil with hydrogenated coconut oil (SFA diet) for a period of 15 months, or with shortening (TFA diet) for 5 months. The degree of angiogenesis/lymphangiogenesis and the expression of growth factors, including fibroblast growth factor (FGF), vascular endothelial growth factor (VEGF), and platelet-derived growth factor (PDGF), were evaluated in non-tumorous liver tissues using quantitative mRNA measurement, immunoblot analysis, and immunohistochemistry. Results: Long-term feeding of SFA and TFA diets to HCVcpTg mice increased the expressions of vascular endothelial cell indicators, such as CD31 and TEK tyrosine kinase, in addition to lymphatic vessel endothelial hyaluronan receptor 1, indicating that angiogenesis/lymphangiogenesis were up-regulated only by these fatty acid-enriched diets. This promoting effect correlated with elevated VEGF-C and FGF receptor 2 and 3 levels in the liver. c-Jun N-terminal kinase (JNK) and hypoxia-inducible factor (HIF) 1α, both key regulators of VEGF-C expression, were enhanced in the SFA- and TFA-rich diet groups as well. The Chol diet significantly increased the expressions of such growth factors as FGF2 and PDGF subunit B (PDGF-B), without any detectable impact on angiogenesis/lymphangiogenesis. Conclusion: This study revealed that diets rich in SFA and TFA, but not Chol, might stimulate hepatic angiogenesis/lymphangiogenesis mainly through the JNK-HIF1α-VEGF-C axis. Our observations indicate an importance of dietary fat species for preventing hepatic tumorigenesis.
DOI: 10.6084/m9.figshare.21975644
title: Supplementary Material for: Comparing single-incision midurethral sling with bulking agents for female stress urinary incontinence: rationale for a non-randomised controled trial

description: Objectives: Midurethral slings are considered the gold standard for the surgical treatment of stress-urinary incontinence (SUI), with an efficacy up to 80%. Another therapeutic option is the use of bulking agents, which create an artificial mass into the urethral submucosa, with an efficacy varying from 64% to 74%. Although bulking agents have a lower risk of complications than midurethral sling surgery, they are mainly used in case a midurethral sling is not an option or if midurethral sling surgery failed to cure stress urinary incontinence. In this study we offer all patients with SUI in secondary care a choice between a single incision midurethral sling procedure and treatment with a bulking agent. We want to examine patient preference and patient satisfaction for both procedures. We expect that offering both interventions in combination with standardized counselling will result in high patient satisfaction. Design: In this non-randomized controlled trial 266 patients will be objectively counselled for both interventions, after which all patients will choose between single-incision midurethral slings (SIMS) and Polyacrylamide hydrogel (PAHG), followed by the standard care procedure for women with SUI. Participants/Materials, Setting, Methods: From 1 January 2021 onwards, all consecutive adult patients (between 18 and 80 years of age) attending the outpatient gynaecology department with objectively confirmed, moderate to severe SUI will be eligible for enrolment in this non-randomized study. The primary outcome is patient satisfaction at 1 year, measured by the Patient Global Impression of Improvement; secondary outcomes are patient satisfaction at 3 months, objective and subjective cure at 3 months and 1 year, adverse events, postoperative pain and cost-effectiveness. Differences in outcome measures will be assessed through logistic and linear regression analyses, both unadjusted and adjusted with covariate adjustment using the propensity score. Results: No results are available yet. Limitations: The major disadvantage of this study design is the potential confounding bias. We intend to eliminate this bias by applying propensity scoring. Conclusion: By designing a non-randomized patient preference trial, we not only expect to demonstrate high patient satisfaction with both interventions, but also provide insight in the possible role of PAHG-injections in the treatment of female SUI as a first-choice non-conservative treatment. Trial Registration: This study is retrospectively registered at the Dutch Trial Registry on 22-03-2021 under the number NL9353.
DOI: 10.6084/m9.figshare.21975995
title: Supplementary Material for: Assessing the Effect of an Inpatient Smoking Cessation Brief Intervention Tool on Long-Term Smoking Cessation Rates and Patient Interest for Nicotine Replacement Therapy: A Retrospective Analysis

description: <b><i>Introduction:</i></b> Smoking cessation among hospital inpatients is essential to reduce risk of surgical complications and all-cause mortality. In the Australian state of Queensland, the Smoking Cessation Clinical Pathway (SCCP), a brief intervention tool, has been used by clinical staff in public hospitals to uniformly support patients to quit smoking since 2015. This study aims to assess the effect of the SCCP on long-term smoking cessation rates recorded in subsequent readmissions, and whether the SCCP as an intervention affects inpatients’ interest in nicotine replacement therapy (NRT) during admission and after discharge. <b><i>Methods:</i></b> We retrospectively analysed data provided by the Princess Alexandra Hospital (PAH) on patients who self-identified as a current smoker on admission to any ward and were admitted to the PAH between 1st January 2018 and 31st December 2019. Smoking cessation rates and patient interest in NRT by SCCP completion were analysed using χ<sup>2</sup> tests and a multinomial logistic regression. <b><i>Results:</i></b> Of 1,902 included patients, NRT was offered to 1,397 patients (73.4%) and accepted by 332 patients (17.5%). Patients who had completed a SCCP were more likely to be offered NRT than those who had not (<i>p</i> &lt; 0.0001). Of the 452 patients with multiple readmissions, 100 (22%) ceased smoking at any point in the 2-year study period. At the end of the 2-year study period, 75 (75%) patients remained abstinent and only 25 (25%) relapsed to smoking as per their final smoking status at the end of the 2-year study period. Patients with a completed SCCP were 1.8 times (RRR: 1.825, <i>p</i> = 0.030) more likely to quit smoking at any point in the 2-year study period, and twice as likely to have quit at the end of the 2-year study period (RRR: 2.064, <i>p</i> = 0.044). <b><i>Discussion:</i></b> The SCCP may be effective at increasing smoking cessation rates among hospital inpatients. Future policies promoting long-term smoking cessation should consider implementation of post-discharge follow-up appointments.
DOI: 10.6084/m9.figshare.22249597
title: Supplementary Material for: Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China

description: Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that the genetic background of affected fetuses is essential for predicting pregnancy outcomes. However, the detection performance of different genetic approaches for the etiological diagnosis of fetal CH remains unclear. In this study, we aimed to compare the diagnostic efficiency of karyotyping and chromosomal microarray analysis (CMA) in a local fetal CH cohort, and tried to propose an optimized testing strategy that may help improve the cost-effectiveness of disease management. We reviewed all pregnancies that underwent invasive prenatal diagnosis between January 2017 and September 2021 at one of the largest prenatal diagnostic centers in Southeast China. We collected cases identified by the presence of fetal CH. Prenatal phenotypes and laboratory records of these patients were audited, collated, and analyzed. The detection rates of karyotyping and CMA were compared, and the concordance rate of these two methods was calculated. A total of 157 fetal CH cases were screened from 6,059 patients who underwent prenatal diagnosis. Diagnostic genetic variants were identified in 44.6% (70/157) of the cases. Karyotyping, CMA, and whole-exome sequencing (WES) identified pathogenic genetic variants in 63, 68, and 1 case, respectively. The Cohen’s κ coefficient between karyotyping and CMA was 0.96, with a concordance of 98.0%. Of the 18 cases in which cryptic copy number variants &lt;5 Mb were detected by CMA, 17 were interpreted as variants of uncertain significance, and the remaining cases were interpreted as pathogenic. Trio exome sequencing revealed a pathogenic homozygous splice site mutation in the <i>PIGN</i> gene in a case undiagnosed by CMA and karyotyping. Our study demonstrated that chromosomal aneuploidy abnormalities are the main genetic cause of fetal CH. Based on this, we recommend karyotyping combined with rapid aneuploidy detection as a first-tier approach for the genetic diagnosis of fetal CH. WES and CMA could improve the diagnostic yield when routine genetic tests fail to determine the cause of fetal CH.
DOI: 10.6084/m9.figshare.22309666
title: Supplementary Material for: Artificial intelligence for the classification of pigmented skin lesions in populations with skin of colour: A systematic review

description: Background While skin cancers are less prevalent in people with skin of color, they are more often diagnosed at later stages and have a poorer prognosis. The use of artificial intelligence (AI) models can potentially improve early detection of skin cancers, however the lack of skin color diversity in training datasets may only widen the pre-existing racial discrepancies in dermatology. Objective To systematically review the technique, quality, accuracy, and implications of studies using AI models trained or tested in populations with skin of color, for classification of pigmented skin lesions. Methods PubMed was used to identify any studies describing AI models for classification of pigmented skin lesions. Only studies that used training datasets with at least 10% of images from people with skin of color were eligible. Outcomes on study population, design of AI model, accuracy, and quality of the studies were reviewed. Results Twenty-two eligible articles were identified. Majority of studies were trained on datasets obtained from Chinese (7/22), Korean (5/22), and Japanese populations (3/22). Seven studies used diverse datasets containing Fitzpatrick skin type I-III in combination with at least 10% from Black American, Native American, Pacific Islander or Fitzpatrick IV-VI. AI models producing binary outcomes (e.g., benign vs malignant) reported an accuracy ranging from 70% to 99.7%. Accuracy of AI models reporting multiclass outcomes (e.g., specific lesion diagnosis) was lower, ranging from 43% to 93%. Reader studies, where dermatologists’ classification is compared with AI model outcomes, reported similar accuracy in one study, higher AI accuracy in three studies, and higher clinician accuracy in two studies. A quality review revealed that dataset description and variety, benchmarking, public evaluation, and healthcare application were frequently not addressed. Conclusions While this review provides promising evidence of accurate AI models in skin of color populations, there are still large discrepancies remain in the number of AI models developed in populations with skin of color (particularly Fitzpatrick type IV-VI) and those with largely European ancestry. A lack of publicly available datasets from diverse populations is likely a contributing factor, as is the inadequate reporting of patient-level metadata relating to skin color in training datasets.