Diagnosis Of Cause Research Articles

Taking responsibility responsibly: looking forward to remedying injustice

ABSTRACT What does it mean to be responsible for structural injustice? According to Iris Marion Young, the ongoing and socially embedded character of structural injustice imposes a future-oriented obligation to work with others toward creating remedial, institutional change. Young explains, ‘Political responsibility seeks less to reckon debts than to bring about results’ (Young, 2003, p. 13). This paper conceptually develops how the goal of remediation bears on responsibility in relation to structural injustice. Does the attribution of responsibility in this context call upon individuals to simply do anything in efforts to affect progressive change? If not, then to what extent are these attributions of responsibility action guiding? On what basis do they direct agents to effectively intervene on relevant conditions and processes rather than act in ways that exacerbate the injustice? I explore the role of etiological explanation in the attribution and acceptance of corrective responsibility, which refers to diagnosis of the operative causation of unjust outcomes. After probing tensions within prominent models of corrective responsibility, I offer my own model attempting to resolve those issues. I argue the forward-looking nature of the call to participate in remedying social problems includes a demand for agents to do so in a way that is itself responsible. I theorize a framework of taking responsibility responsibly. This framework accounts for the moral difference between a conscientiously formulated program of remedial action and a quixotic exercise in reckless delusion.

Forensic, legal, and clinical aspects of deaths associated with implanted cardiac devices

As the population ages, the prevalence of heart failure and individuals wearing an implanted cardiac device is increasing. The combination of different underlying pathophysiologies and (the combination of) implanted cardiac devices can become a challenge with regard to the determination of cause and manner of death in such individuals. Additionally, heart disease is frequently associated with mental disease, ranging from anxiety and depression to suicidality and suicide (attempts). At the same time, the correct diagnosis of cause and manner of death is the basis for quality assurance, further therapeutic advances, legal safety, and suicide prevention. By that, an interdisciplinary field between legal medicine, clinicians, and law enforcement opens up. In this field, the different participants can simultaneously benefit from and need each other. For example, legal medicine experts need investigatory results and clinical expertise for the interpretation of readout data of implanted cardiac devices in order to correctly determine the cause of death. A correctly determined cause of death can assist law enforcement and help clinicians to further improve various therapeutic approaches based on correct mortality data collection. In addition, it is the basis for identification of suicides of device carriers, allowing psychological and psychiatric experts to better understand the burden of mental disease in this particular cohort. Against this interdisciplinary background, this manuscript summarizes information about psychiatric comorbidities and suicidality while being on a device. Thereby, basic information on complications and malfunctions of implanted cardiac devices, device-associated deaths with particular emphasis on device manipulation is displayed as basic information needed for correct determination of the cause of death. Also, legal and ethical issues in this field are outlined. The final result is a proposal of an interdisciplinary assessment workflow for a conjoint approach to improve the diagnosis of deaths associated with implanted cardiac devices. It will allow for a differentiation between an individual who died with or due to the device.

Comprehensive causes of death in uveal melanoma: mortality in 1530 consecutively diagnosed patients followed until death.

Uveal melanoma has a high propensity for metastatic spread. Yet, the comprehensive causes of death in a large consecutive cohort followed from diagnosis to death remain unknown. All Swedish patients diagnosed with melanoma involving the iris, choroid, and/or ciliary body after January 1, 1960, were assessed for this study. Sequential inclusion was halted upon encountering the first surviving patient during data collection. Causes of death were collected from the National Cause of Death Registry and audited by analysis of up to 15 causative diagnoses. A total of 1530 patients were included, each histopathologically verified with primary uveal melanoma. Mortality from metastatic uveal melanoma was 31% at 5 years, 40% at 10 years, 45% at 20 years, 47% at 30 years, and 48% between 40 and 60 years post-diagnosis. Notably, the longest period between diagnosis and metastatic fatality was 49.6 years. Additionally, 186 other causes of death were recorded, with cardiovascular diseases constituting 26%, other cancers 10%, stroke 6%, dementias 2%, and lower respiratory infections 2% of total mortalities. Mortality from colorectal, lung, prostate, and stomach carcinomas over 60 years were 1.4%, 1.4%, 1.2%, and 0.9%, with metastatic uveal melanoma being the leading cumulative and annual cause of death for the initial 41 and 5 years post-diagnosis, respectively. In this large consecutive cohort, half of the included patients ultimately succumbed to metastatic uveal melanoma, with deaths occurring up to 50 years after diagnosis. One-quarter and one-tenth of patients died from cardiovascular diseases and other cancers, respectively.

Ulcerative colitis in the practice of a family doctor

Ulcerative colitis is a chronic disease that is caused by a genetic predisposition and occurs under the influence of unfavorable environmental factors on the intestinal microflora. Having an inflammatory nature, it manifests itself in the form of erosive hemorrhagic and ulcerative destructive changes in the mucous membrane of the rectum and colon. The prevalence of ulcerative colitis is widespread, but it is especially common in economically developed countries. Issues of timely diagnosis cause difficulties among practicing physicians. This is explained by the fact that ulcerative colitis manifests itself not only with classic intestinal symptoms, but also often debuts with various extraintestinal manifestations. Modern medicine provides doctors with many methods for high-quality diagnosis of this pathology. This article presents current aspects of the pathogenesis, clinical picture, diagnosis, and treatment of ulcerative colitis from the perspective of evidence-based medicine.

Quantitative Diagnosis of Water Resources Carrying Capacity Obstacle Factors Based on Connection Number and TOPSIS in Huaibei Plain

To further quantitatively assess the water resources carrying capacity (WRCC) system and analyze and identify the regional water resources carrying state and the physical mechanism of the state change, WRCC and obstacle factor diagnosis were carried out. In this paper, we proposed the mobility matrix to determine the connection number components, considered the dynamic attributes of the difference degree coefficient, and calculated it using the semi-partial subtraction set pair potential and triangular fuzzy number, so as to construct the quantitative diagnosis method of regional WRCC obstacle factors based on the connection number and TOPSIS. The results applied to six cities in the Huaibei Plain showed that the WRCC fluctuated around grade 2 and was in a poor state, which was mainly due to the insufficient support force; the water resources carrying state of the six cities gradually improved from 2011 to 2018, but the state became worse in 2019, which was related to the low precipitation in that year, the reduction in water resources, and the high degree of water resource utilization. The WRCC of Fuyang and Huainan was worse than that of the other four cities; over the 9 years, the average grades of Fuyang and Huainan were 2.26 and 2.43, while those of Huainan, Bozhou, Suzhou, and Bengbu were 2.19, 2.12, 2.05, and 2.05, respectively. The key obstacles limiting the improvement in the WRCC of the Huaibei Plain were per capita water resources, annual water production modulus, per capita water supply, vegetation coverage ratio, utilization ratio of water resources, water consumption per 104 yuan value-added by industry, and population density. In time, the key obstacle factors in neighboring years generally tended to have similarity, and conversely appeared as a difference; in space, neighboring regions showed similarity and conversely presented as a difference. The results of this study can offer technical support and a decision-making basis for water resources management in the Huaibei Plain. The method constructed in this paper is extremely interpretive, easy to calculate, highly sensitive, and reliable in application results, which opens up a new perspective for the rational determination of the connection number and the difference degree coefficient and provides a new intelligent way to determine the state of a complex set pair system and its causal mechanism analysis and diagnosis of obstacle factors.

(De)politicization through safetization? Decision-making on nuclear waste management in Finland and France

Abstract. While both Finland and France are seen as forerunners in final disposal of nuclear waste, there are striking differences between the countries in public and policy discussion on the safety of the project. This paper studies safety-related arguments in national-level decision-making on final disposal of nuclear waste in Finland and France, using selected parliamentary documents as the empirical material. The paper adopts safetization in decision-making on nuclear waste management as its central concept. By safetization we refer to a process whereby, first, images of risks and uncertainties are either created or explained away to give assurance of safety. Second, current practices are normalized, or various – sometimes even exceptional – measures are demanded in order to change current practices and thereby solve the issue and ensure safety. Thus, prevailing views of safety can be supported to build further trust and confidence or alternatively challenged in order to achieve more robust understanding regarding the issue. As a result of safetization, political power will be re-distributed between key actor groups such as implementers, regulators, and politicians. Our empirical analysis explores such processes whereby members of parliament frame, politicize, and depoliticize safety. We employ four data corpuses, two from both case-study countries. The Finnish data consist of the minutes of two plenary sessions of the Finnish Parliament. The first, held in 2001, concerned the Council of State Decision-in-Principle on Posiva's application for the construction of a spent nuclear fuel disposal facility, whereas the second, in 2015, discussed the Statement by the Prime Minister on Nuclear Waste Management Research and Safety Assessment. The French data consist of the debates in preparation for two specific acts on nuclear waste: the first (from 2006) on the framework law on the management of radioactive material and waste and the second (from 2016) on the law defining the conditions for the creation of a reversible deep geological facility for high-level waste (HLW) disposal. The focus of the analysis is on the identification of frames and four frame functions. The functions are as follows. (1) Definition of a situation, issue, or problem related to final disposal. (2) Diagnosis of causes or reasons for the situation as it is portrayed in the data or in a speech. (3) Evaluation or judgement concerning the situation and possibly the actors involved. (4) Suggested course of action. We argue that safety is not only an outcome of scientific research and technical competence, but that efforts to ensure safety also include framing of safetization and de-safetization in political and public debate. Research on energy policy should integrate safetization as a key topic alongside issues such as energy security and climate change mitigation, given that safetization involves similar politicization and de-politicization processes and the exercise of power.

Illegal shooting is now a leading cause of death of birds along power lines in the western USA

Human actions, both legal and illegal, affect wildlife in many ways. Inaccurate diagnosis of cause of death undermines law enforcement, management, threat assessment, and mitigation. We found 410 dead birds collected along 196km of power lines in four western USA states during 2019-2022. We necropsied these carcasses to test conventional wisdom suggesting that electrocution is the leading cause of death of birds at electrical infrastructure. Of 175 birds with a known cause of death, 66% died from gunshot. Both raptors and corvids were more likely to die from gunshot than from other causes, along both transmission and distribution lines. Past mitigation to reduce avian deaths along power lines has focused almost exclusively on reducing electrocutions or collisions. Our work suggests that, although electrocution and collision remain important, addressing illegal shooting now may have greater relevance for avian conservation.

Framing Analysis of Reporting on the Sinovac Covid-19 Vaccine Type on Kompas.Com Online Media

This article aims to find out how the news framing process is about the Sinovac Covid-19 vaccine in online media Kompas.com. This study used a qualitative analysis method using the Robert N. Etman framing analysis model. The subject of this research is the online media kompas.com, while the research object is news about the Sinovac Covid-19 vaccine. The news analyzed totaled 5 news published in 2021. The results of the define problem research show that the online media kompas.com constructed the covid 19 type sinovac vaccine which is very feasible and good for consumption by the public ranging from children to pregnant women, this has conducted clinical trials as a diagnosis of causes. Kompas.com online media explores the make moral judgment that this vaccine has protected the public and educational staff from the virus, so the framing contains a treatment recommendation that the vaccine is appropriate for dissemination and campaigning to the public.

Spatio-temporal changes in the causal interactions among Sustainable Development Goals in China

Extensive efforts have been dedicated to deciphering the interactions associated with Sustainable Development Goals (SDGs). However, these developments are hampered by a lack of efficient strategies to avoid beneficial synergies being offset by harmful trade-offs. To fill these gaps, we used causal diagnosis and network analysis methods to construct 1302 directed networks of SDGs for 31 provinces in China from 2000 to 2020. We observed a dramatic offsetting effect of SDG synergies and trade-offs in China from 2000 to 2020, with approximately 27% of trade-off indicator pairs turning into synergies and about 25% of the synergy indicator pairs turning into trade-offs. However, our findings suggested that prioritising the progress of high-frequency indicators in virtuous cycles could multiply the positive systemic effects of the SDGs. Moreover, controlling the transition from passive to active in the trade-off network of SDGs remains a challenge in advancing the SDGs holistically.

High‐Resolution CCAM Simulations Over New Zealand and the South Pacific for the Detection and Attribution of Weather Extremes

AbstractDetection and attribution experiments are designed for the causal diagnosis of features in the climate system, including trends in mean climate and extreme events. While several detection and attribution data sets now exist, the coarse resolution of the climate models used (∼100‐km) often hinders their application to topographically complex regions like Aotearoa New Zealand and small island nations. The coarse atmospheric resolution may also be detrimental for simulating certain features of the atmospheric circulation, including the jets, blocking and cyclones. To address this, here we introduce a new set of climate model runs consisting of high‐resolution atmospheric simulations from the Conformal Cubic Atmospheric Model (CCAM) non‐hydrostatic global model. The variable‐resolution grid employed by CCAM enables targeted high‐resolution simulations over New Zealand (12‐km) and intermediate resolution over the wider South Pacific region (12–35‐km). Simulations from the historical experiment (years 1982–2021), consisting of ten initial condition ensemble members, are presented and evaluated here. The evaluation focuses on the representation of the large‐scale atmospheric circulation over the Southern Hemisphere including the jet streams, storm tracks, cyclones, blocking and teleconnections, as well as more localized temperature and precipitation variability and extremes specifically over New Zealand. While certain biases are highlighted and discussed for the large‐scale atmospheric circulation, CCAM is found to perform especially well for various precipitation and temperature‐based extreme indices at smaller scales across New Zealand, generally outperforming state‐of‐the‐art reanalysis and coarser resolution global atmospheric models. These results support further application of the CCAM ensemble for studying weather and climate extremes in attribution studies.

A Rare Case of Ruptured Giant Adrenal Myelolipoma Presenting with Spontaneous Intre-Abdominal Haemorrahage: A Case Report

Adrenal myelolipoma is a rare benign neoplasm of mesenchymal origin composed of mature fatty tissue and bone marrow elements. It is a non-functioning benign tumor, usually asymptomatic and commonly detected incidentally during evaluation for unrelated symptoms; hence, it is usually referred to as an “incidentaloma”. Large myelolipomas can cause mass effects and vague abdominal pain, spontaneous tumor rupture with massive hemorrhage is a more dramatic manifestation, though, it is an uncommon entity. We report the case of a 41-year-old anemic male patient who underwent an abdominal CT study and a huge hemorrhagic adrenal myelolipoma was detected to reiterate the importance of recognizing the characteristic radiological features of myelolipoma to accurately diagnose these tumors and emphasize the inclusion of myelolipoma in the lists of differential diagnosis of causes of spontaneous intra-abdominal hemorrhages.

Protocol of the Long-COVID Patients Causal Diagnosis and Rehabilitation Randomized Feasibility Controlled Trial in Patients with Dysautonomia: The LoCoDiRe-Dys Study

Dysautonomia in the post-COVID-19 condition appears to affect a significant number of patients, with reports raising the incidence up to 61%, having an overlap with myalgic encephalomyelitis/chronic fatigue syndrome. Quality of life and daily function are significantly impacted and conservative management interventions, despite the lack of high-quality evidence to date, are needed to ameliorate disability. A total of 50 adults with a dysautonomia post-COVID-19 diagnosis based on the Ewing battery and a NASA lean test will be enrolled in a randomized single blinded controlled trial with a crossover design. Feasibility and lack of definite dysautonomia diagnosis will be the primary outcomes, while secondary outcomes will be health-related, clinical and cardiopulmonary exercise test indicators. Safety and acceptance will also be checked, primarily excluding participants with post-exertional malaise. The Long-COVID patients Causal Diagnosis and Rehabilitation study in patients with Dysautonomia (LoCoDiRE-Dys) intervention will consist of an educational module, breathing retraining and an individualized exercise intervention of biweekly sessions for two months with regular assessment of both groups. LoCoDiRe-Dys aims to be the first post-COVID-19 randomized study in people with dysautonomia offering a multimodal intervention both in diagnosis and management. The need for evidence in effectively supporting patients is eminent.

Critical Framing Analysis: Violence Against Women on Online Media

The journalistic problem that arises when covering women issues at national and global levels showed that the dominant issues in the mass media were masculine. Women issues were dominant in alternative media. It was assumed that the alternative media use feminist journalism framing in its content. This research used media framing theory as the second level of agenda-setting theory that is supported by standpoint theory in critical paradigm to understand the phenomena. It used descriptive-qualitative approach with critical framing analysis design. The object of study covered 39 articles in February 2022 edition of Konde.Co and Magdalene.Co. The alternative media were chosen because they had feminist vision. The data was analyzed using Robert T. Entmant’s procedure, namely: define problem; diagnosis of causes; make moral judgments; and treatment recommendations. The results showed that almost all the existing articles applied the principles of feminist journalism. The framing of women-related news was more dominant particularly the issue of violence against women. This issue was dominant since until right now it is still happening actually in society. Violence is used by men to subjugate women. Patriarchal power relations are assumed to be behind this phenomenon. This research concluded that the framing of feminist journalism focused on violence against women in public domain committed by men abusers in the position as husbands, lovers, teachers, friends, medical workers, co-workers or public figures. Patriarchism gave men the privilege of using violence as a natural thing to do. Being a feminist man and empowered woman, as well as firm law enforcement were recommendations emphasized in this framing.

Edema Paru Neurogenik Perioperatif

Neurogenic pulmonary edema (NPE) is one of the leading causes of death in the intensive care unit. These events are often disguised as diseases or disorders that originate purely from the respiratory system. Diagnostic examination of NPE needs to be done, both radiologically and in the laboratory. Several things are useful in determining the estimated incidence of NPE, including the causes of neurological events, supporting examinations, length of stay, and preconditions for comorbidities owned by the patient or his family. Patients who are about to undergo a surgical procedure and have previous respiratory problems, a recent history of neurological disorders, or even both have a special note about the risk of perioperative NPE events. Management of NPE can be appropriate if it is managed comprehensively and always considers possible differential diagnoses of causes because if it is wrong to make a diagnosis, then of course it will result in an error in therapy. Effective and efficient management of NPE, based on diagnosis that is strengthened by the support of laboratory and supporting examinations, to rule out ambiguous causes of NPE, both purely neurological and non-neurological cases. Postoperative patients who are indicated to have NPE, during treatment in the intensive care unit or post anesthesia care unit (PACU), need to receive temporary special attention so that the patient does not experience aggravation.

Misery of Long Haulers of COVID-19 - A Review

Background: Early in December 2019, Wuhan City, Hubei Province, China, had an epidemic of the Coronavirus illness 2019 (COVID-19), which was brought on by a brand-new severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2). The epidemic was deemed a Public Health Emergency of International Concern by the World Health Organization on January 30, 2020. Many governments have implemented a range of control measures as a result of perceived illness risk. Objectives: The pandemic revealed that COVID-19 affects a variety of organs in addition to the lungs, including the heart and brain, raising the risk of long-term health consequences. The illness can affect someone's health even after recovery in a variety of ways. The long-term effects of COVID-19 on locals are still being researched. The objective is to compile knowledge regarding the virus and the present Post pandemic complications in Long Haulers. Methods: We reviewed the body of publicly available literature. To discover publications published between December 2019 and October 2020, we conducted a systematic search utilizing the keywords in online databases such as Pub Med, Scopus, Science Direct, Up to Date, and Web of Science. The review includes peer-reviewed original publications published that matched the qualifying requirements. Results: Although the majority of patients recovered quickly after receiving COVID-19, the possibility of long-term issues induced by COVID-19 necessitates the search for and research of its late consequences. This article aims to provide a comprehensive assessment of COVID-19 late complications in order to determine how prevalent these symptoms are and who is most likely to be impacted. Conclusion: There are a number of difficulties with the COVID-19 pandemic that has yet to be resolved. Review of the literature reported several long-lasting clinical problems that affect different phases of health, including chronic fatigue, reduced physical capacity, muscle weakness, increased depression, anxiety, post-traumatic stress disorder and sleep problems. A complete turndown in quality of life has been observed even one year after major Coronavirus outbreaks. : The pandemic revealed that COVID-19 affects a variety of organs in addition to the lungs, including the heart and brain, raising the risk of long-term health consequences even after years making them to be “Long Haulers”. : The causal agent, pathogenesis, immunological responses, epidemiology, diagnosis, therapy, and management of the disease, as well as control and preventive efforts, are all included in this review of the literature.

Cefotaxime/sulbactam plus gentamicin as a potential carbapenem- and amikacin-sparing first-line combination for neonatal sepsis in high ESBL prevalence settings.

Infection with ESBL-producing Enterobacteriaceae infection is ubiquitous in some neonatal ICUs and increasing levels of antibiotic resistance are a cause for urgent concern. Delineation of bacterial and viral sepsis can be challenging, often leading to patients receiving empirical antibiotics without or whilst waiting for a definitive causal diagnosis. Empirical therapy is often dependent on broad-spectrum 'Watch' antibiotics, contributing to further resistance. ESBL-producing Enterobacteriaceae clinical isolates found to have caused neonatal sepsis and meningitis underwent a detailed in vitro screening including susceptibility testing, chequerboard combination analysis and hollow-fibre infection model dynamic analyses using combinations of cefotaxime, ampicillin and gentamicin in combination with β-lactamase inhibitors. Additivity or synergy was found for all antibiotic combinations against seven Escherichia coli and three Klebsiella pneumoniae clinical isolates. Cefotaxime or ampicillin plus sulbactam combined with gentamicin was able to consistently inhibit the growth of ESBL-producing isolates at typical neonatal doses, and the combination cleared the hollow-fibre infection model system of organisms resistant to each agent alone. The combination of cefotaxime/sulbactam and gentamicin was consistently bactericidal at clinically achievable concentrations (Cmax of 180, 60 and 20 mg/L for cefotaxime, sulbactam and gentamicin, respectively). The addition of sulbactam to cefotaxime or ampicillin to the typical first-line empirical therapy could obviate the need for carbapenems and amikacin in settings with high ESBL-infection prevalence.

Role of Ultrasonography in Detection of Male Infertility

Infertility is the inability of a couple of reproductive age to have conception even after one year without interruption of sexual activity. Young couples who are affected with infertility are 10-15% worldwide and 40-60 % are males. Approximately 80 million people are facing this problem. Azoospermia is the main presenting symptom of infertility. Various diseases such as varicocele, orchitis, and trauma are the most common causes of infertility. Objective: To investigate the effectiveness of scrotal ultrasonography in the diagnosis of causes of male infertility and to check the sonographic findings of the normal or pathological scrotum. Methods: Various search engines were used to perform a systemic literature review. Google scholar, NCBI, PubMed, and Medscape provide the articles for this systemic literature review. Male infertility, ultrasound, and causes are the main keywords that are used for searching articles related to this topic. Results: 45 articles were reviewed and 40 were included in this systematic review. The main finding of this review is that most of the infertile patients had azoospermia. The most common cause of male infertility is a varicocele and other causes include hydrocele, epididymal-orchitis, cysts of testes and epididymis, and trauma. For effective diagnosis and treatment of infertility sonographic scrotal evaluation must be included. Conclusions: The conclusion of this review is that measurement of the volume of testes and detection of varicocele by ultrasonography is very helpful for the physician for assessment of causes of male infertility

High Sensitivity for Monogenic Causal Diagnoses in Autism, Including De Novo Variants Representing Novel Disorders, with Trio Whole Genome Sequencing and Data Reanalysis in a Non-Academic Center (P13-9.002)

<h3>Objective:</h3> To determine the current sensitivity of trio whole genome sequencing (trio-WGS) in autism. <h3>Background:</h3> The last decade has seen dramatic improvements in the proportion of the genome clinically sequenced (e.g., &lt; 1% to &gt; 99%), accuracy, bioinformatic tools, and variant databases. Rapidly shifting methodologies have complicated sensitivity measurements. Additionally, the current literature is almost entirely from academic research centers, and sensitivity in independent organizations is unclear. <h3>Design/Methods:</h3> NeurAbilities Healthcare is an independent organization specializing in neurodevelopmental disorders. As part of our routine clinical practice, we analyzed the raw DNA sequencing files on the Variantyx bioinformatics platform for the last 20 autism patients in 2022 who had trio-WGS. Since the adoption of upgraded bioinformatics in late 2021, methodology has been essentially static, allowing for measurement of current testing sensitivity. <h3>Results:</h3> Monogenic causal diagnoses (MCD) were provided in 15/20 (75%) cases, including 11 heterozygous <i>de novo</i>, 2 X-linked and 2 autosomal recessive. Patients with moderate-to-profound intellectual disability (11/12 v. 4/8, P=0.011) and those without tics (13/14 v. 2/6, P=0.014) were statistically more likely to obtain a causal diagnosis. Only 7/15 (47%) of MCD cases had the variant listed on the laboratory report. The “missed” cases included genes with ≤4 reported families (THOC2, SLC41A2) and with no prior case reports (TRPM2, PGAM5, MTMR4, GRIK1, CD177). Not all <i>de novo</i> variants were labelled as MCD; each of those labeled were in genes previously associated with autism. Of the five cases without an MCD, three had variants likely/potentially related to disease. Overall, 16/20 (80%) of cases had treatment recommendation(s) based on DNA. <h3>Conclusions:</h3> Our results demonstrate high yield of trio-WGS for revealing molecular diagnoses in autism that is greatly enhanced by re-analyzing DNA sequencing files. Many are <i>de novo</i> and represent un/under-published conditions that are not within the scope of reporting by clinical laboratories. <b>Disclosure:</b> Mr. Bar has nothing to disclose. Miss Ebenau has nothing to disclose. The institution of Dr. Mintz has received research support from Curemark. The institution of Dr. Mintz has received research support from Otsuka. Dr. Boles has received personal compensation in the range of $50,000-$99,999 for serving as an officer or member of the Board of Directors for NeuroNeeds . Dr. Boles has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Mitochondrial and Molecular Medicine. Dr. Boles has stock in NeuroNeeds.

Multi-channel deep learning model-based myocardial spatial–temporal morphology feature on cardiac MRI cine images diagnoses the cause of LVH

BackgroundTo develop a fully automatic framework for the diagnosis of cause for left ventricular hypertrophy (LVH) via cardiac cine images.MethodsA total of 302 LVH patients with cine MRI images were recruited as the primary cohort. Another 53 LVH patients prospectively collected or from multi-centers were used as the external test dataset. Different models based on the cardiac regions (Model 1), segmented ventricle (Model 2) and ventricle mask (Model 3) were constructed. The diagnostic performance was accessed by the confusion matrix with respect to overall accuracy. The capability of the predictive models for binary classification of cardiac amyloidosis (CA), hypertrophic cardiomyopathy (HCM) or hypertensive heart disease (HHD) were also evaluated. Additionally, the diagnostic performance of best Model was compared with that of 7 radiologists/cardiologists.ResultsModel 3 showed the best performance with an overall classification accuracy up to 77.4% in the external test datasets. On the subtasks for identifying CA, HCM or HHD only, Model 3 also achieved the best performance with AUCs yielding 0.895–0.980, 0.879–0.984 and 0.848–0.983 in the validation, internal test and external test datasets, respectively. The deep learning model showed non-inferior diagnostic capability to the cardiovascular imaging expert and outperformed other radiologists/cardiologists.ConclusionThe combined model based on the mask of left ventricular segmented from multi-sequences cine MR images shows favorable and robust performance in diagnosing the cause of left ventricular hypertrophy, which could be served as a noninvasive tool and help clinical decision.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organizational difficulties for clinical laboratories. Patients and methods: We applied a reanalysis strategy based on intensive prospective bibliographic monitoring along with direct application of the GREP command-line tool (to "globally search for a regular expression and print matching lines") in a large ES database. For 18months, we submitted the same five keywords of interest [(intellectual disability, (neuro)developmental delay, and (neuro)developmental disorder)] to PubMed on a daily basis to identify recently published novel disease-gene associations or new phenotypes in genes already implicated in human pathology. We used the Linux GREP tool and an in-house script to collect all variants of these genes from our 5,459 exome database. Results: After GREP queries and variant filtration, we identified 128 genes of interest and collected 56 candidate variants from 53 individuals. We confirmed causal diagnosis for 19/128 genes (15%) in 21 individuals and identified variants of unknown significance for 19/128 genes (15%) in 23 individuals. Altogether, GREP queries for only 128 genes over a period of 18months permitted a causal diagnosis to be established in 21/2875 undiagnosed affected probands (0.7%). Conclusion: The GREP query strategy is efficient and less tedious than complete periodic reanalysis. It is an interesting reanalysis strategy to improve diagnosis.