Analysis of the suitability of existing medical ontologies for building a scalable semantic interoperability solution supporting multi-site collaboration in oncology

Semantic interoperability is essential to facilitate efficient collaboration in heterogeneous multi-site healthcare environments. The deployment of a semantic interoperability solution has the potential to enable a wide range of informatics supported applications in clinical care and research both within as ingle healthcare organization and in a network of organizations. At the same time, building and deploying a semantic interoperability solution may require significant effort to carryout data transformation and to harmonize the semantics of the information in the different systems. Our approach to semantic interoperability leverages existing healthcare standards and ontologies, focusing first on specific clinical domains and key applications, and gradually expanding the solution when needed. An important objective of this work is to create a semantic link between clinical research and care environments to enable applications such as streamlining the execution of multi-centric clinical trials, including the identification of eligible patients for the trials. This paper presents an analysis of the suitability of several widely-used medical ontologies in the clinical domain: SNOMED-CT, LOINC, MedDRA, to capture the semantics of the clinical trial eligibility criteria, of the clinical trial data (e.g., Clinical Report Forms), and of the corresponding patient record data that would enable the automatic identification of eligible patients. Next to the coverage provided by the ontologies we evaluate and compare the sizes of the sets of relevant concepts and their relative frequency to estimate the cost of data transformation, of building the necessary semantic mappings, and of extending the solution to new domains. This analysis shows that our approach is both feasible and scalable

Robust orienting to protofacial stimuli in autism

Newborn infants exhibit a remarkable tendency to orient to faces. This behavior is thought to be mediated by a subcortical mechanism tuned to the protoface stimulus: a face-like configuration comprising three dark areas on a lighter background. When this unique stimulus translates across their visual field, neurotypical infants will change their gaze or head direction to track the protoface [1–3] . Orienting to this low spatial frequency pattern is thought to encourage infants to attend to faces, despite their poor visual acuity [2,3] . By biasing the input into the newborn’s visual system, this primitive instinct may serve to ‘canalize’ the development of more sophisticated face representation. Leading accounts attribute deficits of face perception associated with Autism Spectrum Disorders (ASD) [4] to abnormalities within this orienting mechanism. If infants who are later diagnosed with ASD exhibit reduced protoface orienting, this may compromise the emergence of perceptual expertise for faces [5] . Here we report a novel effect that confirms that the protoface stimulus captures adults’ attention via an involuntary, exogenous process (Experiment 1). Contrary to leading developmental accounts of face perception deficits in ASD, we go on to show that this orienting response is intact in autistic individuals (Experiment 2)

Seasonal Variations in Vegetation Indices derived from in situ Type Vegetation Monitoring System at typical landcovers in Japan : From the Observation Results in PGLIERC and Lake Biwa Project

研究概要:本研究では光学センサー搭載衛星データの検証及び地表面フラックスとの対応関係を調べるために簡易式の地上設置型植生モニタリングシステムを日本を代表する土地被覆上(草地,水田,アカマツ林,落葉広葉樹)に設置し,それぞれの土地被覆から得られる植生指標の季節変化について示した.その結果,以下の知見が得られた;1.草原系(草地・水田)では各植生の季節変化特性を良好にモニターすることが可能である,2.森林系(アカマツ林・落葉広葉樹)ではセンサーとキャノピーの距離が近すぎるため,思うような結果を得ることが出来なかった.3.ただし全般としては各土地被覆特性を示す連続したデータを取得することができ,システムの妥当性を示すことができた

Cyanoacrylate closure for peripheral veins: Consensus document of the Australasian College of Phlebology

Background: Cyanoacrylates are fast-acting adhesives used in procedural medicine including closure of superficial wounds, embolization of truncal vessels pre-operatively, vascular anomalies, visceral false aneurysms, endoleaks, gastrointestinal varices and gastrointestinal bleeding. More recently, catheter-directed cyanoacrylate adhesive closure was introduced as an alternative to endovenous thermal ablation (ETA) to occlude superficial veins of the lower limbs. Objectives: To formulate policies for the safe and effective delivery of cyanoacrylate adhesive closure procedures in Australasia, based on current experience and evidence. Methods: A panel of phlebologists including vascular surgeons, interventional radiologists, dermatologists and research scientists systematically reviewed the available data on cyanoacrylate products used in medicine and shared personal experience with the procedure. The reviewed material included bibliographic and biomedical data, material safety data sheets and data requested and received from manufacturers. Results and recommendations: Cyanoacrylate adhesive closure appears to be an effective treatment for saphenous reflux with occlusion rates at 36 months of 90–95%. We recommend a maximum dose of 10 mL of cyanoacrylate per treatment session. Serious complications are rare, but significant. Hypersensitivity to acrylates is reported in 2.4% of the population and is an important absolute contraindication to cyanoacrylate adhesive closure.1 Post-procedural inflammatory reactions, including hypersensitivity-type phlebitis, occur in 10–20% of patients.2 In the long term, cyanoacrylate adhesive closure results in foreign-body granuloma formation within 2–12 months of the procedure. We recommend against the use of cyanoacrylate adhesive closure in patients with uncontrolled inflammatory, autoimmune or granulomatous disorders (e.g. sarcoidosis). Caution should be exercised in patients with significant active systemic disease or infection and alternative therapies such as thermal ablation and foam sclerotherapy should be considered. Conclusions: Cyanoacrylate adhesive closure appears to be an effective endovenous procedure, with short-term closure rates comparable to ETA and therefore greater efficacy than traditional surgery for treating superficial veins of the lower limbs. Ongoing data collection is required to establish the long-term safety

Transplante hepático em sarcoma embrionário indiferenciado de fígado em adultos: relato de caso

Undifferentiated embryonal sarcoma of the liver (UESL) consists of a rare malignant neoplasm with a still poorly known etiopathogenesis, affecting mostly children between the ages of 6 and 10 years. It corresponds to 7% of primary liver tumors, and is the fourth most common liver cancer in pediatrics. The diagnosis of UESL is based on a set of imaging findings, age and level of alpha-fetoprotein (AFP), which is usually normal, as well as liver function tests. Early diagnosis is hampered by non-specific symptoms, such as abdominal pain, a rapidly growing palpable abdominal mass, fever, weight loss, and gastrointestinal symptoms. The most characteristic image finding is that of a large, unique, and well-defined mass. Ultrasonography shows a predominantly solid and echogenic mass. Computed tomography, on the other hand, shows a mass that takes on a mainly cystic characteristic. Histologically, myxoid tissue with spindle-shaped neoplastic cells is evidenced. Some immunohistochemical studies indicate UESL mesenchymal origin. The macroscopic aspect of the tumor appears as a large hepatic mass, with a predominantly solid component, with some cystic areas, hemorrhage, and necrosis in up to 80% of its surface. The best approach for the treatment of primary liver sarcoma is not yet well defined. Therapeutic options include surgical resection, chemotherapy, radiotherapy, and liver transplantation (LT). However, in cases of unresectable tumors, LT is an option that must be considered, since in this histological type both chemotherapy and radiotherapy have questionable benefits. This article aims to report a case of giant UESL, with vascular invasion, submitted to LT with good postoperative evolution and without signs of recurrence after nine months of LT.O sarcoma embrionário indiferenciado de fígado (SEIF) consiste em uma neoplasia maligna rara com etiopatogenia ainda pouco conhecida, acometendo em sua maioria crianças na faixa etária entre 6 e 10 anos. Corresponde a 7% dos tumores primários de fígado, e é a quarta neoplasia hepática mais frequente na pediatria. O diagnóstico do SEIF se dá em um conjunto de achados de imagem, idade e nível de alfa-fetoproteína (AF), que geralmente está normal, assim como as provas de função hepática. O diagnóstico precoce é prejudicado pelos sintomas inespecíficos, como dor abdominal, massa abdominal palpável de rápido crescimento, febre, perda de peso e sintomas gastrintestinais. O achado de imagem mais característico é o de massa grande, única e bem-delimitada. A ultrassonografia mostra massa predominantemente sólida e ecogênica. Já a tomografia computadorizada evidencia uma massa que assume característica principalmente cística. Histologicamente é evidenciado tecido mixoide com células neoplásicas fusiformes. Alguns estudos imuno-histoquímicos indicam origem mesenquimal do SEIF. O aspecto macroscópico do tumor se apresenta como grande massa hepática, de componente sólido predominantemente, com algumas áreas císticas, hemorragia e necrose em até 80% de sua superfície. Ainda não é bem-definida a melhor abordagem para o tratamento do sarcoma primário de fígado. As opções terapêuticas incluem ressecção cirúrgica, quimioterapia, radioterapia e transplante hepático (TH). Porém, nos casos de tumores irressecáveis, o TH é uma opção que deve ser considerada, uma vez que nesse tipo histológico tanto quimioterapia como radioterapia têm benefício questionável. Este artigo tem por objetivo relatar um caso de SEIF gigante, com invasão vascular, submetido a TH com boa evolução pós-operatória e sem sinais de recidiva após nove meses de TH

Publisher Correction: Reporting guideline for the early-stage clinical evaluation of decision support systems driven by artificial intelligence: DECIDE-AI (Nature Medicine, (2022), 28, 5, (924-933), 10.1038/s41591-022-01772-9)

In the version of this article initially published, a list of the DECIDE-AI expert group members and their affiliations was omitted and has now been included in the HTML and PDF versions of the article. *A list of authors and their affiliations appears online

Comparação da evolução do transplante hepático em receptores com MELD alto e baixo

OBJECTIVE: To compare low and high MELD scores and investigate whether existing renal dysfunction has an effect on transplant outcome. METHODS: Data was prospectively collected among 237 liver transplants (216 patients) between March 2003 and March 2009. Patients with cirrhotic disease submitted to transplantation were divided into three groups: MELD &gt; 30, MELD < 30, and hepatocellular carcinoma. Renal failure was defined as a ± 25% decline in estimated glomerular filtration rate as observed 1 week after the transplant. Median MELD scores were 35, 21, and 13 for groups MELD &gt; 30, MELD < 30, and hepatocellular carcinoma, respectively. RESULTS: Recipients with MELD &gt; 30 had more days in Intensive Care Unit, longer hospital stay, and received more blood product transfusions. Moreover, their renal function improved after liver transplant. All other groups presented with impairment of renal function. Mortality was similar in all groups, but renal function was the most important variable associated with morbidity and length of hospital stay. CONCLUSION: High MELD score recipients had an improvement in the glomerular filtration rate after 1 week of liver transplantation

Antimicrobial resistance among migrants in Europe: a systematic review and meta-analysis

BACKGROUND: Rates of antimicrobial resistance (AMR) are rising globally and there is concern that increased migration is contributing to the burden of antibiotic resistance in Europe. However, the effect of migration on the burden of AMR in Europe has not yet been comprehensively examined. Therefore, we did a systematic review and meta-analysis to identify and synthesise data for AMR carriage or infection in migrants to Europe to examine differences in patterns of AMR across migrant groups and in different settings. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, PubMed, and Scopus with no language restrictions from Jan 1, 2000, to Jan 18, 2017, for primary data from observational studies reporting antibacterial resistance in common bacterial pathogens among migrants to 21 European Union-15 and European Economic Area countries. To be eligible for inclusion, studies had to report data on carriage or infection with laboratory-confirmed antibiotic-resistant organisms in migrant populations. We extracted data from eligible studies and assessed quality using piloted, standardised forms. We did not examine drug resistance in tuberculosis and excluded articles solely reporting on this parameter. We also excluded articles in which migrant status was determined by ethnicity, country of birth of participants' parents, or was not defined, and articles in which data were not disaggregated by migrant status. Outcomes were carriage of or infection with antibiotic-resistant organisms. We used random-effects models to calculate the pooled prevalence of each outcome. The study protocol is registered with PROSPERO, number CRD42016043681. FINDINGS: We identified 2274 articles, of which 23 observational studies reporting on antibiotic resistance in 2319 migrants were included. The pooled prevalence of any AMR carriage or AMR infection in migrants was 25·4% (95% CI 19·1-31·8; I2 =98%), including meticillin-resistant Staphylococcus aureus (7·8%, 4·8-10·7; I2 =92%) and antibiotic-resistant Gram-negative bacteria (27·2%, 17·6-36·8; I2 =94%). The pooled prevalence of any AMR carriage or infection was higher in refugees and asylum seekers (33·0%, 18·3-47·6; I2 =98%) than in other migrant groups (6·6%, 1·8-11·3; I2 =92%). The pooled prevalence of antibiotic-resistant organisms was slightly higher in high-migrant community settings (33·1%, 11·1-55·1; I2 =96%) than in migrants in hospitals (24·3%, 16·1-32·6; I2 =98%). We did not find evidence of high rates of transmission of AMR from migrant to host populations. INTERPRETATION: Migrants are exposed to conditions favouring the emergence of drug resistance during transit and in host countries in Europe. Increased antibiotic resistance among refugees and asylum seekers and in high-migrant community settings (such as refugee camps and detention facilities) highlights the need for improved living conditions, access to health care, and initiatives to facilitate detection of and appropriate high-quality treatment for antibiotic-resistant infections during transit and in host countries. Protocols for the prevention and control of infection and for antibiotic surveillance need to be integrated in all aspects of health care, which should be accessible for all migrant groups, and should target determinants of AMR before, during, and after migration. FUNDING: UK National Institute for Health Research Imperial Biomedical Research Centre, Imperial College Healthcare Charity, the Wellcome Trust, and UK National Institute for Health Research Health Protection Research Unit in Healthcare-associated Infections and Antimictobial Resistance at Imperial College London

Characterizing the morbid genome of ciliopathies

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. Results We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum. Likely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the families, adding 32 novel alleles. Consistent with a fully penetrant model for these genes, we found no significant difference in their “mutation load” beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort. Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling. Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis. Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population. Conclusions Our study increases our understanding of the morbid genome of ciliopathies. We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies

Transport injuries and deaths in the Eastern Mediterranean Region : findings from the Global Burden of Disease 2015 Study

Transport injuries (TI) are ranked as one of the leading causes of death, disability, and property loss worldwide. This paper provides an overview of the burden of TI in the Eastern Mediterranean Region (EMR) by age and sex from 1990 to 2015. Transport injuries mortality in the EMR was estimated using the Global Burden of Disease mortality database, with corrections for ill-defined causes of death, using the cause of death ensemble modeling tool. Morbidity estimation was based on inpatient and outpatient datasets, 26 cause-of-injury and 47 nature-of-injury categories. In 2015, 152,855 (95% uncertainty interval: 137,900-168,100) people died from TI in the EMR countries. Between 1990 and 2015, the years of life lost (YLL) rate per 100,000 due to TI decreased by 15.5%, while the years lived with disability (YLD) rate decreased by 10%, and the age-standardized disability-adjusted life years (DALYs) rate decreased by 16%. Although the burden of TI mortality and morbidity decreased over the last two decades, there is still a considerable burden that needs to be addressed by increasing awareness, enforcing laws, and improving road conditions.Peer reviewe