bluuebunny/crossref_metadata_2025_split huggingface dataset:
Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel
Authors: Wildin Robert S. , Giummo Christine A. , Reiter Aaron W. , Peterson Thomas C. , Leonard Debra G. B. 
Published: April 2022

To realize the promise of genomic medicine, harness the power of genomic technologies, and capitalize on the extraordinary pace of research linking genomic variation to disease risks, healthcare systems must embrace and integrate genomics into routine healthcare. We have implemented an innovative pilot program for genomic population health screening for any-health-status adults within the largest health system in Vermont, United States. This program draws on key research and technological advances to safely extract clinical value for genomics in routine health care. The program offers no-cost, non-research DNA sequencing to patients by their primary care providers as a preventive health tool. We partnered with a commercial clinical testing company for two next generation sequencing gene panels comprising 431 genes related to both high and low-penetrance common health risks and carrier status for recessive disorders. Only pathogenic or likely pathogenic variants are reported. Routine written clinical consultation is provided with a concise, clinical “action plan” that presents core messages for primary care provider and patient use and supports clinical management and health education beyond the testing laboratory’s reports. Access to genetic counseling is free in most cases. Predefined care pathways and access to genetics experts facilitates the appropriate use of results. This pilot tests the feasibility of routine, ethical, and scalable use of population genomic screening in healthcare despite generally imperfect genomic competency among both the public and health care providers. This article describes the program design, implementation process, guiding philosophies, and insights from 2 years of experience offering testing and returning results in primary care settings. To aid others planning similar programs, we review our barriers, solutions, and perceived gaps in the context of an implementation research framework.
Case Report: Evidence of Migratory Silicone Particles Arising From Cohesive Silicone Breast Implants
Authors: Mustafá Jessica C. R. , Fleury Eduardo de Faria Castro , Dijkman Henry B. P. M. 
Published: April 2022

BackgroundSilicone implants have been used since the 1960s for aesthetic purposes and breast reconstructions. During this period, many women have reported up to 40 similar symptoms, including fatigue, the emergence of autoimmune diseases, Raynaud Phenomenon, arthritis, arthralgias, and hair loss, among others. However, most of the time, these symptoms are neglected by doctors across different specialties and are most often considered a psychosomatic disease. Since 2017, many women suffering from the same complaints have formed social media groups to report their histories and subsequently describe the disease as Breast Implant Illness (BII). The phenomenon of gel bleed and silicone toxicity is known and accepted in literature, but silicone migration into the extracapsular space is still poorly demonstrated, due to the difficulty of monitoring its particles and access to patient data.MethodsThis work demonstrated the presence of silicone through pathological examination in post-explant breast capsules and in the synovial tissue of the right wrist, detected with special Modified Oil Red O (MORO) staining in a patient with a history of BII. The pathological results were compared to the breast MRI imaging files.ResultsThe MRI images show the permeability change of the implant shell diagnosed as a water-droplet signal. It was also possible to diagnose the gel bleeding as the silicone-induced granuloma of breast implant capsule (SIGBIC) in both implants. Silicone gel bleed and migration of silicone were detected with MORO staining in and outside the capsule and in the synovial tissue of the right wrist.ConclusionIn this case study, we showed that silicone migration is possible via cohesive silicone gel breast implant leakage. The accumulation of silicone in the synovial tissue of the right wrist suggests local silicone toxicity and defects.
DyeVert Contrast Reduction System Use in Patients Undergoing Coronary and/or Peripheral Angiography: A Systematic Literature Review and Meta-Analysis
Authors: Tarantini Giuseppe , Prasad Anand , Rathore Sudhir , Bansal Shweta , Gottfried Regine , Rosenkranz Alexander R. , Briguori Carlo , Yaghoubi Mohsen , Mashayekhi Atefeh , Javanbakht Mehdi , Moloney Eoin 
Published: April 2022

BackgroundContrast-associated acute kidney injury (CA-AKI) is an important adverse effect associated with injecting iodinated intra-arterial contrast media (CM) during coronary angiography. The DyeVert™ Contrast Reduction System is a medical device intended to reduce the intra-arterial CM volume (CMV) administered. The aim of this study was to assess DyeVert System clinical effectiveness and safety by implementing a systematic review and meta-analysis of existing evidence.MethodsSystematic electronic literature searches were conducted in MEDLINE, Embase, the Cochrane Database of Systematic Reviews, ClinicalTrials.gov, and the International Clinical Trials Registry Platform database. Relevant data were extracted from included studies and meta-analyses were performed to synthesize evidence across studies.ResultsThe review included 17 eligible studies involving 1,731 DyeVert System cases and 1,387 control cases (without the use of DyeVert). Meta-analyses demonstrated use of the DyeVert System reduced CMV delivered to the patient by 39.27% (95% CI, 36.10–42.48%, P &lt; 0.001), reduced CMV/baseline renal function ratios (Hedges’s g, −0.56; 95% CI, −0.70 to −0.42, P &lt; 0.001) and percentage of cases exceeding the maximum CMV threshold (risk difference −0.31, 95% CI, −0.48 to −0.13, P &lt; 0.001) while maintaining adequate image quality in 98% of cases. DyeVert System cases demonstrated lower CA-AKI incidence vs. controls (absolute risk reduction 5.00% (95% CI, 0.40–9.80%; P = 0.03), relative risk 0.60 (95% CI, 0.40–0.90; P = 0.01) with a pooled estimate of the number needed to treat with the DyeVert System to avoid 1 CA-AKI event of 20.ConclusionDyeVert System use significantly reduces CMV delivered to the patient, CMV/baseline renal function ratios, and CA-AKI incidence while maintaining image quality. Accordingly, the device may serve as an adjunctive, procedure-based strategy to prevent CA-AKI. Future multi-center studies are needed to further assess effects of minimizing CMV on endpoints such as CA-AKI prevention, incidence of adverse cardiac and renal events, and health care costs.
Global Burden of Bacterial Skin Diseases: A Systematic Analysis Combined With Sociodemographic Index, 1990–2019
Authors: Xue Yi , Zhou Jie , Xu Bei-Ni , Li Yue , Bao Wu , Cheng Xia Lin , He Yan , Xu Chun Peng , Ren Jun , Zheng Ya rong , Jia Chi Yu 
Published: April 2022

BackgroundThe latest incidence and disability-adjusted life-years (DALYs) of major bacterial skin diseases (BSD) and their relationship with socioeconomic are not readily available.ObjectiveDescribe the global age-standardized incidence and DALYs rates of BSD and analyze their relationship with socioeconomic.MethodsAll data were obtained from Global Burden of Disease (GBD) 2019 database. The correlation between BSD and socioeconomic development status was analyzed.ResultsThe age-standardized incidence and age-standardized DALYs rate of BSD are: 169.72 million [165.28–175.44] and 0.41 million [0.33–0.48]. Of the two main BSD, pyoderma cause significantly much heavier burden than cellulitis. The change of age-standardized incidence (7.38% [7.06–7.67]) and DALYs (−10.27% [−25.65 to 25.45]) rate of BSD presented an upward or downward trend from 1990 to 2019. The highest burden was in the low-middle sociodemographic index (SDI) area while the area with the lowest burden was recorded in the high-middle SDI area in 2019.LimitationsGBD 2019 data of BSD are derived from estimation and mathematical modeling.ConclusionThe burden of BSD is related to socioeconomic development status. The results based on GBD2019 data may benefit policymakers in guiding priority-setting decisions for the global burden of BSD.
Trisomy 8 Associated Clonal Cytopenia Featured With Acquired Auto-Inflammation and Its Response to JAK Inhibitors
Authors: Fu Yakai , Wu Wanlong , Chen Zhiwei , Gu Liyang , Wang Xiaodong , Ye Shuang 
Published: April 2022

ObjectsIt has been recognized the nexus between trisomy 8 and auto-inflammatory features in myelodysplasia syndrome (MDS). Recent research about VEXAS syndrome proved clonal hematopoiesis could interfere with innate immune system far before occurrence of hematological malignancies. We reported a case series of clonal cytopenia with auto-inflammatory features in trisomy 8 patients.MethodsA total of six patients with isolated trisomy 8 excluded from MDS was retrospectively collected from the Department of Rheumatology, Renji Hospital, Shanghai. The clinical presentations and treatment outcomes were presented.ResultsWe report patients with trisomy 8 shared the auto-inflammatory features of recurrent fever, arthralgia, gastrointestinal involvement, and elevated inflammatory markers, especially hyperferritinemia, in addition to hematological findings such as macrocytic anemia and cytopenia of other lineages but without myelodysplasia. The symptoms of this disorder responded to the treatment of glucocorticoids but difficult to taper. JAK inhibitors were introduced to four patients with enhanced response along with glucocorticoids sparing effect and good tolerance.ConclusionClonal cytopenia harboring trisomy 8 presenting with auto-inflammatory features was identified. JAK inhibitor may be a promising anti-inflammatory option.
Can Helicopters Solve the Transport Dilemma for Patients With Symptoms of Large-Vessel Occlusion Stroke in Intermediate Density Areas? A Simulation Model Based on Real Life Data
Authors: Behrndtz Anne , Beare Richard , Iievlieva Svitlana , Andersen Grethe , Mainz Jeppe , Gude Martin , Ma Henry , Srikanth Velandai , Simonsen Claus Z. , Phan Thanh 
Published: April 2022

BackgroundThis modeling study aimed to determine if helicopters may optimize the transportation of patients with symptoms of large vessel stroke in “intermediate density” areas, such as Denmark, by bringing them directly to the comprehensive stroke center.MethodsWe estimated the time for the treatment of patients requiring endovascular therapy or intravenous thrombolysis under four configurations: “drip and ship” with and without helicopter and “bypass” with and without helicopter. Time delays, stroke numbers per municipality, and helicopter dispatches for four helicopter bases from 2019 were obtained from the Danish Stroke and Helicopter Registries. Discrete event simulation (DES) was used to estimate the capacity of the helicopter fleet to meet patient transport requests, given the number of stroke codes per municipality.ResultsThe median onset-to-needle time at the comprehensive stroke center (CSC) for the bypass model with the helicopter was 115 min [interquartile range (IQR): 108, 124]; the median onset-to-groin time was 157 min (IQR: 150, 166). The median onset-to-needle time at the primary stroke center (PSC) by ground transport was 112 min (IQR: 101, 125) and the median onset-to-groin time when primary transport to the PSC was prioritized was 234 min (IQR: 209, 261).A linear correlation between travel time by ground and the number of patients transported by helicopter (rho = 0.69, p &lt; 0.001) indicated that helicopters are being used to transport more remote patients. DES demonstrated that an increase in helicopter capture zone by 20 min increased the number of rejected patients by only 5%.ConclusionsOur model calculations suggest that using helicopters to transport patients with stroke directly to the CSC in intermediate density areas markedly reduce onset-to-groin time without affecting time to thrombolysis. In this setting, helicopter capacity is not challenged by increasing the capture zone.
Plasma Inflammatory Markers and Ventriculostomy-Related Infection in Patients With Hemorrhagic Stroke: A Retrospective and Descriptive Study
Authors: Bögli Stefan Yu , Wang Sophie S. , Pietrzko Elisabeth , Müller Achim , Eisele Amanda , Keller Emanuela , Brandi Giovanna 
Published: April 2022

BackgroundDiagnosis of ventriculostomy-related infection (VRI) remains difficult due to the various existing definitions. In patients with hemorrhagic stroke, its diagnosis might be further complicated by the presence of intraventricular blood. Furthermore, hemorrhagic stroke per se may cause symptoms compatible with VRI. This study aimed to evaluate the benefit of plasma inflammatory markers for the diagnosis of VRI and its differentiation from patients with non-cerebral infection and patients without infection in a cohort of patients with hemorrhagic stroke.MethodsA total of 329 patients with hemorrhagic stroke and an external ventricular drain (EVD) in situ were admitted to the Neurocritical Care Unit, University Hospital Zurich over a period of 6 years. Of those patients, 187 with subarachnoid hemorrhage and 76 with spontaneous intracerebral hemorrhage were included. Patients with VRI were compared to patients without any infection and to patients with non-cerebral infection, with regards to their clinical characteristics, as well as their inflammatory plasma and cerebrospinal fluid (CSF) markers. For the analysis, peak values were considered.ResultsThe VRI was diagnosed in 36% of patients with subarachnoid and in 17% of patients with intracerebral hemorrhage. The VRI was diagnosed on an average day 9±6.2 after EVD insertion, one day after the white blood cell count (WBC) peaked in CSF (8 ± 6.3). Plasma inflammatory markers (WBC, C-reactive protein “CRP” and procalcitonin “PCT”) did not differ among patients with VRI compared to patients without infection. The CRP and PCT, however, were higher in patients with non-cerebral infection than in patients with VRI. The WBC in CSF was generally higher in patients with VRI compared to both patients without any infection and patients with non-cerebral infection.ConclusionsNo differences in plasma inflammatory markers could be found between patients with VRI and patients without any infection. Conversely, CRP/PCT were higher in patients with non-cerebral infection than in patients with VRI. Altogether, CRP, PCT, and WBC are not suitable parameters for VRI diagnosis in neurocritical care unit patients.
Different Hemodynamic Characteristics and Resulting in Different Risks of Rupture Between Wide-Neck and Narrow-Neck Aneurysms
Authors: Wei Heng , Tian Qi , Yao Kun , Wang Jianfeng , He Peibang , Guo Yujia , Han Wenrui , Gao Wenhong , Li Mingchang 
Published: April 2022

ObjectiveThis study aimed to determine the ruptured rate and hemodynamic difference between wide-neck aneurysms (WNAs) and narrow-neck aneurysms (NNAs), as well as the hemodynamic parameters of risk factors for aneurysm rupture.MethodsA total of 121 cases of intracranial aneurysms (IAs) were studied retrospectively between January 2019 and April 2021 at Renmin Hospital of Wuhan University. Intracranial aneurysms were classified into four types: ruptured wide-neck aneurysms (RWNAs), unruptured wide-neck aneurysms (UWNAs), ruptured narrow-neck aneurysms (RNNAs), and unruptured narrow-neck aneurysms (UNNAs). The Chi-square test was used to compare differences in rupture ratios. The clinical characteristics and hemodynamics were analyzed statistically to reveal the rupture risk factors. Moreover, significant parameters were subjected to binary logistic regression analysis to identify the independent predictive factors. The receiver operating characteristic (ROC) curve was performed to obtain cutoff values.ResultsWNAs ruptured more frequently than NNAs (P = 0.033). Ruptured intracranial aneurysms (RIAs) were characterized by significantly higher intra-aneurysmal pressure (IAP), wall shear stress (WSS), wall shear stress gradient (WSSG), and lower normalized wall shear stress (NWSS) than unruptured intracranial aneurysms (UIAs). RWNAs had higher IAP, WSS, and lower NWSS than UWNAs (P &lt; 0.05). RNNAs had higher IAP, Streamwise WSSG and lower NWSS compared to UNNAs (P &lt; 0.05). Binary logistic regression revealed that IAP and WSS were independent predictive risk factors for WNAs rupture, with cut-off values of 405.5 and 6.66 Pa, respectively. Also, IAP was an independent predictive risk factor for NNA rupture, with a cut-off value of 255.3 Pa.ConclusionsWide-neck aneurysms and narrow-neck aneurysms have diverse hemodynamics, which prompts a higher rupture ratio for WNAs. IAP could characterize the rupture risk in both WNAs and NNAs independently, but WSS could only predict the rupture risk in WNAs. This research might assist neurosurgeons with fostering a more sensible strategy for the treatment of IAs.
Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
Authors: Xu Beiyu , Wei Cuijie , Hu Xiao , Li Wenzhu , Huang Zhen , Que Chengli , Qiu Jianxing , Li Chunde , Xiong Hui 
Published: April 2022

BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an antisense oligonucleotide that can enhance the production of the SMN protein. Here, we report a case with scoliosis who received orthopedic surgery combined with Nusinersen intrathecal injections.Case PresentationScoliosis orthopedic surgery followed by Nusinersen intrathecal injections was given to a 16-year-old girl who had thoracic and lumbar scoliosis and type 3 SMA. Surgery was performed for T3-S2 posterolateral fusion (PLF), with a channel left on the vertebral laminae of L3-L4. The balance of the spine and pelvis was significantly improved and the height increased by 9 cm. Lumbar puncture was conducted with local anesthesia under ultrasound and CT guidance through the laminae channel and Nusinersen was successfully injected. Comparing the two approaches, real-time ultrasound guidance for intrathecal Nusinersen injections after spinal surgery is preferred, however, CT guidance is an alternative if the initial puncture procedure is difficult. After the aforementioned multidisciplinary treatment, a good outcome was achieved, as demonstrated by a 2-point increase in RULM and MFM32 scores 2 months later.ConclusionScoliosis orthopedic surgery combined with Nusinersen intrathecal injection is an effective treatment for SMA patients with scoliosis.
Genetically Predicted Circulating Concentrations of Micronutrients and COVID-19 Susceptibility and Severity: A Mendelian Randomization Study
Authors: Daniel Neil , Bouras Emmanouil , Tsilidis Konstantinos K. , Hughes David J. 
Published: April 2022

BackgroundCoronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) which since 2019 has caused over 5 million deaths to date. The pathogenicity of the virus is highly variable ranging from asymptomatic to fatal. Evidence from experimental and observational studies suggests that circulating micronutrients may affect COVID-19 outcomes.ObjectivesTo complement and inform observational studies, we investigated the associations of genetically predicted concentrations of 12 micronutrients (β-carotene, calcium, copper, folate, iron, magnesium, phosphorus, selenium, vitamin B-6, vitamin B-12, vitamin D, and zinc) with SARS-CoV-2 infection risk and COVID-19 severity using Mendelian randomization (MR).MethodsTwo-sample MR was conducted using 87,870 individuals of European descent with a COVID-19 diagnosis and 2,210,804 controls from the COVID-19 host genetics initiative. Inverse variance-weighted MR analyses were performed with sensitivity analyses to assess the impact of potential violations of MR assumptions.ResultsCompared to the general population, nominally significant associations were noted for higher genetically predicted vitamin B-6 (Odds ratio per standard deviation [ORSD]: 1.06; 95% confidence interval [CI]: 1.00, 1.13; p-value = 0.036) and lower magnesium concentrations (ORSD: 0.33; 95%CI: 0.11, 0.96; P = 0.042) with COVID-19 infection risk. However, the association for magnesium was not consistent in some sensitivity analyses, and sensitivity analyses could not be performed for vitamin B-6 as only two genetic instruments were available. Genetically predicted levels of calcium, folate, β-carotene, copper, iron, vitamin B-12, vitamin D, selenium, phosphorus, or zinc were not associated with the outcomes from COVID-19 disease.ConclusionThese results, though based only on genetically predicated circulating micronutrient concentrations, provide scant evidence for possible associations of micronutrients with COVID-19 outcomes.
A Body Shape Index and Body Roundness Index in Relation to Anxiety, Depression, and Psychological Distress in Adults
Authors: Lotfi Keyhan , Hassanzadeh Keshteli Ammar , Saneei Parvane , Afshar Hamid , Esmaillzadeh Ahmad , Adibi Peyman 
Published: April 2022

BackgroundDespite the large evidence on the association between obesity and psychological disorders, studies investigating new anthropometric indices in relation to mental health are limited. We aimed to explore the association between A Body Shape Index (ABSI) and Body Roundness Index (BRI) and common psychological disorders (anxiety, depression, and psychological distress) among Iranian adults.MethodsIn this cross-sectional investigation, anthropometric measures of 3213 Iranian adults were gathered using a validated self-reported questionnaire. ABSI and BRI values of participants were calculated through pre-defined formulas. General Health Questionnaire (GHQ) and Hospital Anxiety and Depression Scale (HADS) validated for Iranians were used to assess psychological distress, anxiety, and depression.ResultsMean age of participants was 36.6 ± 7.73, and 62.8% of them were women. ABSI and BRI were higher in subjects with anxiety and psychological distress. Also, depressed participants had higher BRI. After considering potential confounders, individuals in the last tertile of ABSI, compared to the first tertile, had higher odds of anxiety (OR: 1.41, 95%CI: 1.04, 1.93) and psychological distress (OR: 1.39, 95%CI: 1.09, 1.79). Also, a marginal association was found between the highest category of ABSI and depression (OR: 1.27; 95%CI: 1.00, 1.61). In the sex-stratified analysis, ABSI was positively related to odds of anxiety (OR: 1.58; 95%CI; 1.12, 2.22), depression (OR: 1.40; 95%CI; 1.07, 1.84), and psychological distress (OR: 1.51; 95%CI; 1.13, 2.01) among women, but not men. We failed to find any significant association between BRI and depression, anxiety and psychological distress.ConclusionWe found that ABSI was associated with anxiety, depression and psychological distress among females, but not males. However, we did not find a significant relation between BRI and the outcomes. Further prospective studies are required to confirm our findings.