bluuebunny/crossref_metadata_2025_split huggingface dataset:
Screening for Fetal Chromosomal Abnormalities
Authors:   American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics,   Committee on Genetics,   Society for Maternal-Fetal Medicine
Published: August 2020

Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient’s risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. When considering screening test characteristics, no one test is superior in all circumstances, which results in the need for nuanced, patient-centered counseling from the obstetric care professional and complex decision making by the patient. Each patient should be counseled in each pregnancy about options for testing for fetal chromosomal abnormalities. It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. Testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient’s clinical context, accessible health care resources, values, interests, and goals. All patients should be offered both screening and diagnostic tests, and all patients have the right to accept or decline testing after counseling.
The purpose of this Practice Bulletin is to provide current information regarding the available screening test options available for fetal chromosomal abnormalities and to review their benefits, performance characteristics, and limitations. For information regarding prenatal diagnostic testing for genetic disorders, refer to Practice Bulletin
No. 162, Prenatal Diagnostic Testing for Genetic Disorders. For additional information regarding counseling about genetic testing and communicating test results, refer to Committee Opinion No. 693, Counseling About Genetic
Testing and Communication of Genetic Test Results. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. 690, Carrier Screening in the Age of Genomic Medicine and Committee Opinion No. 691, Carrier Screening for Genetic Conditions. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling.
Intracranial Pressure Dynamics and Cerebral Vasomotor Reactivity in Coronavirus Disease 2019 Patient With Acute Encephalitis
Authors: Svedung Wettervik Teodor , Kumlien Eva , Rostami Elham , Howells Timothy , von Seth Magnus , Velickaite Vilma , Lewén Anders , Enblad Per 
Published: August 2020

Objectives:
We describe the intracranial pressure dynamics and cerebral vasomotor reactivity in a coronavirus disease 2019 patient with acute encephalitis treated with cerebrospinal fluid drainage and therapeutic plasma exchange.

Data Sources:
Coronavirus disease ICU, Uppsala University Hospital, Sweden.

Study Selection:
Case report.

Data Extraction:
Radiology, intracranial pressure, intracranial compliance (correlation between intracranial pressure amplitude and mean intracranial pressure), cerebral vasomotor reactivity (pressure reactivity index), arterial blood pressure, cerebrospinal fluid chemistry, and treatment.

Data Synthesis:
None.

Conclusions:
This is the first reported case of intracranial pressure monitoring in a patient with acute encephalitis following coronavirus disease 2019. Intracranial pressure data exhibited a high incidence of plateau waves with intracranial pressure insults above 40 mm Hg that required cerebrospinal fluid drainage. Intracranial compliance was low, and pressure reactivity was intact. It is probable that the combination of low intracranial compliance and intact pressure autoregulation explain the high degree of plateau intracranial pressure waves and intracranial pressure variability. This case illustrates that it could be of value to consider intracranial pressure monitoring in selected coronavirus disease 2019 patients with suspicion of increased intracranial pressure to be able to confirm and treat intracranial hypertension if needed. In this patient, therapeutic plasma exchange was safe and efficacious as the level of neuroinflammation decreased and the patient regained consciousness.
A single copy of large tumor suppressor 1 or large tumor suppressor 2 is sufficient for normal hematopoiesis
Authors: Li Zhi-Gang , Fu Xue-Mei , Chai Cheng-Yan , Sun Fang-Fang , Xiao Fei-Fei , Huang Yong-Xiu , Yao Kai , Chen Jie-Ping , Hou Yu 
Published: August 2020

Abstract

Background
Hematopoietic stem cells (HSCs) have the ability to differentiate into all subsets of blood cells and self-renew. Large tumor suppressor 1 (LATS1) and large tumor suppressor 2 (LATS2) kinases are essential for cell cycle regulation, organism fitness, genome integrity, and cancer prevention. Here, we investigated whether Lats1 and Lats2 are critical for the maintenance of the self-renewal and quiescence capacities of HSCs in mice.

Methods
Quantitative reverse transcription-polymerase chain reaction was used to determine the expression levels of Lats1 and Lats2 in subsets of progenitor cells and mature bone marrow cells. A clustered regularly interspaced short palindromic repeats system was used to generate Lats1 or Lats2 knockout mice. Complete blood cell counts were used to compare the absolute number of white blood cells, lymphocytes, monocytes, neutrophils, and platelets between Lats1 or Lats2 heterozygotes and littermates. Flow cytometry was used to assess the size of hematopoietic progenitor cells (HPCs) and HSC pools in Lats1 or Lats2 heterozygotes and littermates. The comparison between the two groups was analyzed using Student's t test.

Results

Lats1 and Lats2 were widely expressed in hematopoietic cells with higher expression levels in primitive hematopoietic cells than in mature cells. Lats1 or Lats2 knockout mice were generated, with the homozygotes showing embryonic lethality. The size of the HPC and HSC pools in Lats1 (HPC: wild-type [WT] vs. heterozygote, 220,426.77 ± 54,384.796 vs. 221,149.4 ± 42,688.29, P = 0.988; HSC: WT vs. heterozygote, 2498.932 ± 347.856 vs. 3249.763 ± 370.412, P = 0.105) or Lats2 (HPC: WT vs. heterozygote, 425,540.52 ± 99,721.86 vs. 467,127.8 ± 89,574.48, P = 0.527; HSC: WT vs. heterozygote, 4760.545 ± 1518.01 vs. 5327.437 ± 873.297, P = 0.502) heterozygotes were not impaired. Moreover, the depletion of Lats1 or Lats2 did not affect the overall survival of the heterozygotes (Lats1: P = 0.654; Lats2: P = 0.152).

Conclusion
These results indicate that a single allele of Lats1 or Lats2 may be sufficient for normal hematopoiesis.
Early-life nutrition and metabolic disorders in later life: a new perspective on energy metabolism
Authors: Zhou Li-Yuan , Deng Ming-Qun , Zhang Qian , Xiao Xin-Hua 
Published: August 2020

Abstract
Type 2 diabetes mellitus and metabolic disorders have become an epidemic globally. However, the pathogenesis remains largely unclear and the prevention and treatment are still limited. In addition to environmental factors during adulthood, early life is the critical developmental window with high tissue plasticity, which might be modified by external environmental cues. Substantial evidence has demonstrated the vital role of early-life nutrition in programming the metabolic disorders in later life. In this review, we aim to overview the concepts of fetal programming and investigate the effects of early-life nutrition on energy metabolism in later life and the potential epigenetic mechanism. The related studies published on PubMed database up to March 2020 were included. The results showed that both maternal overnutrition and undernutrition increased the riskes of metabolic disorders in offspring and epigenetic modifications, including DNA methylation, miRNAs, and histone modification, might be the vital mediators. The beneficial effects of early-life lifestyle modifications as well as dietary and nutritional interventions on these deleterious metabolic remolding were initially observed. Overall, characterizing the early-life malnutrition that reshapes metabolic disease trajectories may yield novel targets for early prevention and intervention and provide a new point of view to the energy metabolism.
Peripheral pain mechanisms in osteoarthritis
Authors: Vincent Tonia L. 
Published: August 2020

Abstract
There is a well-established historical observation that structural joint damage by plain X-ray correlates poorly with symptomatic disease in osteoarthritis (OA). This is often attributed to the inability to visualise soft-tissue pathology within the joint and the recognition of heterogeneous patient factors that drive central pain sensitisation. A major issue is the relative paucity of mechanistic studies in which molecular pathogenesis of pain is interrogated in relation to tissue pathology. Nonetheless, in recent years, three broad approaches have been deployed to attempt to address this: correlative clinical studies of peripheral and central pain outcomes using magnetic resonance imaging, where soft-tissue processes can be visualised; molecular studies on tissue from patients with OA; and careful molecular interrogation of preclinical models of OA across the disease time course. Studies have taken advantage of established clinical molecular targets such as nerve growth factor. Not only is the regulation of nerve growth factor within the joint being used to explore the relationship between tissue pathology and the origins of pain in OA, but it also provides a core model on which other molecules present within the joint can modulate the pain response. In this narrative review, how molecular and pathological tissue change relates to joint pain in OA will be discussed. Finally, a model for how tissue damage may lead to pain over the disease course will be proposed.
Dual mini-fragment plate fixation for Neer type-II and -V distal clavicle fractures
Authors: Chen Michael J. , Salazar Brett P. , Bishop Julius A. , Gardner Michael J. 
Published: August 2020

Abstract
Contemporary methods for open reduction and internal fixation of displaced distal clavicle fractures have excellent rates of union and high rates of reoperation for symptomatic implant removal. The authors describe their preferred surgical technique and case series of patients with Neer Type-II and -V distal clavicle fractures treated with lower profile dual mini-fragment plates using interdigitating screws placed into the distal segment to enhance fixation.
Functional SARS-CoV-2-specific immune memory persists after mild COVID-19
Authors: Rodda Lauren B. , Netland Jason , Shehata Laila , Pruner Kurt B. , Morawski Peter A. , Thouvenel Chris , Takehara Kennidy K. , Eggenberger Julie , Hemann Emily A. , Waterman Hayley R. , Fahning Mitchell L. , Chen Yu , Rathe Jennifer , Stokes Caleb , Wrenn Samuel , Fiala Brooke , Carter Lauren , Hamerman Jessica A. , King Neil P. , Gale Michael , Campbell Daniel J. , Rawlings David , Pepper Marion 
Published: August 2020

SummaryThe recently emerged SARS-CoV-2 virus is currently causing a global pandemic and cases continue to rise. The majority of infected individuals experience mildly symptomatic coronavirus disease 2019 (COVID-19), but it is unknown whether this can induce persistent immune memory that might contribute to herd immunity. Thus, we performed a longitudinal assessment of individuals recovered from mildly symptomatic COVID-19 to determine if they develop and sustain immunological memory against the virus. We found that recovered individuals developed SARS-CoV-2-specific IgG antibody and neutralizing plasma, as well as virus-specific memory B and T cells that not only persisted, but in some cases increased numerically over three months following symptom onset. Furthermore, the SARS-CoV-2-specific memory lymphocytes exhibited characteristics associated with potent antiviral immunity: memory T cells secreted IFN-γ and expanded upon antigen re-encounter, while memory B cells expressed receptors capable of neutralizing virus when expressed as antibodies. These findings demonstrate that mild COVID-19 elicits memory lymphocytes that persist and display functional hallmarks associated with antiviral protective immunity.
Disease Spectrum of Breast Cancer Susceptibility Genes
Authors: Wang Jin , Singh Preeti , Yin Kanhua , Zhou Jingan , Bao Yujia , Wu Menghua , Pathak Kush , McKinley Sophia K. , Braun Danielle , Hughes Kevin S. 
Published: August 2020

ABSTRACTBackgroundPathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases. We aim to evaluate the disease spectrum of breast cancer susceptibility genes (BCSGs) to develop a comprehensive resource of gene-disease associations for clinicians.MethodsThirteen genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RECQL, STK11 and TP53), that have been conclusively established as BCSGs by the Clinical Genome Resource (ClinGen) and the NCCN guidelines, were investigated. For these thirteen genes, potential gene-disease associations were identified and evaluated based on six genetic resources (ClinGen, NCCN, OMIM, Genetics Home Reference, GeneCards and Gene-NCBI) and an additional literature review using a semiautomated natural language processing (NLP) abstract classification procedure.ResultsA total of 40 diseases were confirmed as being associated with one or more of the 13 BCSGs by our evaluation. Malignant diseases including prostate cancer, pancreatic cancer, colorectal cancer, brain tumor, gastric cancer, ovarian cancer, and sarcoma were associated with at least 3 BCSGs. Furthermore, a total of 87 gene-disease associations were confirmed by our evaluation, of which 85% (74/87) were confirmed by ClinGen and/or NCCN. Conversely, 9 gene-disease associations absent from both ClinGen and NCCN were confirmed in the other four genetic resources (≥3) and 4 gene-disease associations were confirmed by the NLP-based procedure.ConclusionThis is the first study to systematically investigate the reported disease spectrum of BCSGs in multiple sources. Our innovative approach provides a general guide for evaluating gene-disease associations, and improves the clinical management for at-risk individuals.
Results and Impact of Intensive SARS-CoV-2 Testing in a High Volume, Outpatient Radiation Oncology Clinic in a Pandemic Hotspot
Authors: McBride Sean M , Bundick Kimberly , Hubbeling Harper , Freret Morgan , Modlin Leslie A , Kamboj Mini , Cahlon Oren , Gomez Daniel R 
Published: August 2020

AbstractBackgroundIn an attempt to reduce interruptions in radiation treatment, our department implemented universal SARS-CoV-2 PCR testing during the peak of the New York City COVID-19 epidemic.MethodsStarting 4/18/20, outpatients coming into the Department of Radiation Oncology for either simulation or brachytherapy were required to undergo PCR testing for SARS-CoV-2. Starting on 5/6/20, patients were offered simultaneous SARS CoV-2 IgG antibody testing.ResultsBetween 4/18/20-6/25/20, 1360 patients underwent 1,401 outpatient screening visits (Table 1). Of the patients screened, 411 were screened between 4/18/20 and 5/6/20 (Phase 1) with PCR testing: 13 (3.1%) patients were PCR positive. From 5/7/20 to 6/25/20, 990 patients were scheduled for both PCR and antibody testing (Phase 2), including 41 previously screened in Phase 1. Of those with known antibody status (n=952), 5.5% were seropositive. After 5/21/20, no screened patient (n=605) tested PCR positive. In the month prior to screening (3/17/20-4/19/20), 24 of 625 patients initiating external radiation had treatment interrupted due to COVID-19 infection (3.8%) vs 7 of 600 patients (1.1%) in the month post screening (4/20/20-5/24/20) (p=0.002).ConclusionsState-wide mitigation efforts, coupled with intensive departmental screening, helped prevent interruptions in radiation during the COVID-19 epidemic that could have compromised treatment efficacy.
Social Network Analysis of COVID-19 Transmission in Karnataka, India
Authors: Saraswathi S. , Mukhopadhyay A. , Shah H. , Ranganath T.S. 
Published: August 2020

SummaryWe used social network analysis (SNA) to study the novel coronavirus (COVID-19) outbreak in Karnataka, India, and assess the potential of SNA as a tool for outbreak monitoring and control. We analyzed contact tracing data of 1147 Covid-19 positive cases (mean age 34.91 years, 61.99% aged 11–40, 742 males), anonymized and made public by the government. We used software tools Cytoscape and Gephi to create SNA graphics and determine network attributes of nodes (cases) and edges (directed links, determined by contact tracing, from source to target patients). Outdegree was 1–47 for 199 (17.35%) nodes, and betweenness 0.5–87 for 89 (7.76%) nodes. Men had higher mean outdegree and women, higher betweenness. Delhi was the exogenous source of 17.44% cases. Bangalore city had the highest caseload in the state (229, 20%), but comparatively low cluster formation. Thirty-four (2.96%) “super-spreaders” (outdegree≥5) caused 60% of the transmissions. Real-time social network visualization can allow healthcare administrators to flag evolving hotspots and pinpoint key actors in transmission. Prioritizing these areas and individuals for rigorous containment could help minimize resource outlay and potentially achieve a significant reduction in COVID-19 transmission.
Progressive changes in glutamate concentration in early stages of schizophrenia: A longitudinal 7-Tesla MRS study
Authors: Jeon Peter , Limongi Roberto , Ford Sabrina , Mackinley Michael , Dempster Kara , Théberge Jean , Palaniyappan Lena 
Published: August 2020

AbstractProgressive reduction in glutamatergic transmission has been proposed as an important component of the illness trajectory of schizophrenia. Despite its popularity, to date, this notion has not been convincingly tested in patients in early stages schizophrenia. In a longitudinal 7T magnetic resonance spectroscopy (1H-MRS), we quantified glutamate at the dorsal anterior cingulate cortex in 21 participants with a median lifetime antipsychotic exposure of less than 3 days and followed them up after 6 months of treatment. Healthy controls were also scanned at two time points. While patients had significantly lower overall glutamate levels than healthy controls (F(1,27) = 5.23, p = 0.03), we did not observe a progressive change of glutamate concentration in patients (F(1,18) = 0.47, p = 0.50), and the group by time interaction was not significant (F(1,27) = 0.86, p = 0.36). On average, patients with early psychosis receiving treatment showed a 0.02 mM/year increase, while healthy controls showed a 0.06 mM/year reduction of MRS glutamate levels. Bayesian analysis of our observations does not support early, post-onset glutamate loss in schizophrenia. Interestingly, it provides evidence in favour of a lack of progressive glutamate change in our schizophrenia sample – indicating that the glutamatergic level at the onset of illness was the best predictor of the levels 6 months after treatment. A more nuanced view of glutamatergic physiology, linked to early cortical maturation, may be required to understand glutamatergic dynamics in schizophrenia.
The use of an Artificial Neural Network (ANN) in the evaluation of the Extracorporeal Shockwave Lithotripsy (ESWL) as a treatment of choise for urinary lithiasis
Authors: Athanasios Tsitsiflis , Yiannis Kiouvrekis , Georgios Chasiotis , Georgios Perifanos , Stavros Gravas , Ioannis Stefanidis , Vasilios Tzortzis , Anastasios Karatzas 
Published: August 2020

PurposeArtificial Neural Networks (ANNs) are simplified computational models simulating the central nervous system. They are widely applied in medicine, since they substantially increase the sensitivity and specificity of the diagnosis, classification and the prognosis of a medical condition. In this study we constructed an artificial neural network to evaluate several parameters of extracorporeal shockwave lithotripsy (ESWL), such as the outcome and safety of the procedure.Materials and methodsPatients with urinary lithiasis suitable for ESWL treatment were enrolled. An artificial neural network (ANN) was designed and a unique algorithm was executed with the use of the well-known numerical computing environment, MATLAB. Medical data were collected from all patients and 12 nodes were used as inputs (sex, age, B.M.I. (Body Mass Index), stone location, stone size, comorbidity, previous ESWL sessions, analgesia, number of shockwaves, shockwave intensity, presence of a ureteral stent and hydronephrosis). Conventional statistical analysis was also performed.Results716 patients were finally included in our study. Univariate analysis revealed that diabetes and hydronephrosis were positively correlated to the ESWL complications. Regarding efficacy, univariate analysis revealed that stone location, stone size, the number and density of shockwaves delivered and the presence of a stent in the ureter were independent factors of the ESWL outcome. This was further confirmed when adjusted for sex and age in a multivariate analysis.The performance of the ANN (predictive/real values) at the end of the training state reached 98,72%. The four basic ratios (sensitivity, specificity, PPV, NPV) were calculated for both training and evaluation data sets. The performance of the ANN at the end of the evaluation state was 81,43%.ConclusionsOur ANN achieved high score in predicting the outcome and the side effects of the extracorporeal shockwave lithotripsy treatment for urinary stones. In fact, the accuracy of the network may further improve by using larger sets of data, different architecture in designing the model or using different set of input variables, making ANNs thus, a quite promising instrument for effective, precise and swift medical diagnosis.
Water, Sanitation, Hygiene and Covid-19 pandemic: a global socioeconomic analysis
Authors: Roy Ajishnu , Basu Aman , Pramanick Kousik 
Published: August 2020

AbstractSocioeconomic achievement of WASH (access to safe water, sanitation and hygiene) services are being acknowledged as anticipatory actors, indispensable in safeguarding health during this Covid-19 pandemic. However, on a global scale, it is currently not clear whether deprivation or non-obtainability of which of the various WASH services are closely related to Covid-19 dynamics and up to which degree. We have analysed data (March - June 2020) related to five Covid-19 indicators for most of the countries in the world with indicators of safe water, sanitation and hygiene to understand this. We have found a strong positive correlation between lesser effects of Covid-19 and better access to safe water, sanitation as well as hygiene throughout this time for most of the indicators. However, some indicators show the opposite nature of the relationship, for which we have given probable explanation accordingly. The hypothesis of an inversely proportional association between Covid-19 and poor WASH facilities on a global scale is confirmed in this study. We propose that this study should be perceived as an expanded comprehensive view on the complexities of WaSH-Covid19 interrelationships, which could help to shape an agenda for research into some unanswered questions.HighlightsWASH indicators are highly correlated to cumulative indicators of Covid-19.Trends of this correlation have been changing from March-June, 2020.Income groups and geographic locations have no distinguishing effects on countries.Better WASH performance does not always correlate against Covid-19.