Search results for: rare entity

Authors: Mahboubeh Davoudi Pahnekolayi

Abstract:

Begonia rex cv. DS-EYWA is a rare, unique cultivar of begonia rex with curly colorful leaves. Optimization of an in vitro efficient regeneration protocol by focusing on transverse Thin Cell Layer (tTCL) petiole explants for high-scale production of such a beautiful cultivar was considered as our main purpose in this experiment. Thus, various concentrations of Plant Growth Regulators (PGRs) including 6-Benzylaminopurine (BAP), Thidiazuron (TDY), and –Naphthaleneacetic Acid (NAA), were selected in a Completely Randomized Design (CRD) to establish and optimize the direct organogenesis efficiency of this cultivar. Cultivation of 1 mm tTCL petiole explants in noted treatments showed that 1.5 mgl-1 BAP + 0.5 mgl-1 NAA can induce the highest number of direct regenerated shoots and lower concentration of BAP (0.5 mgl-1) can be suggested for shoot elongation before rooting stage. Elongated shoots were successfully rooted in MS free basal medium and acclimatized in 1:1 peat moss: perlite sterilized pot mixture.

Keywords: begonia rare cultivar, direct organogenesis, explant type, regeneration, thin cell layering (TCL)

Procedia PDF Downloads 76

Authors: Ines Zemni, Maher Slimane, Jamel Ben Hassouna, Khaled Rahal

Abstract:

Background: Neurofibromatosis type 1 (NF1) is a genetic disease, which is associated with an increased risk of developing different malignancies including breast cancer. The association between NF1 band breast sarcoma is a rare entity. Herein we present a 25-year-old woman with NF1 who had fibrosarcoma of the left breast. Case presentation: The patient has multiple thoraco-abdominal 'café au lait' spots. Clinical examination showed a lump of the left breast measuring 9 cm of diameter, which was noticed for 6 months. There was a left inguinal mass of 6 cm of diameter. The patient underwent first a left lumpectomy. Histopathological exam revealed a high-grade fibrosarcoma of the left breast measuring 7.5 cm. Three months later, the patient underwent a left mastectomy and excision of the inguinal mass, which was a neurofibroma. An adjuvant chemotherapy and radiation therapy were indicated, but not applied because of the timeout. The patient is now alive after a follow up of 6 years, with no loco-regional recurrence or metastasis. Conclusion: The relationship between NF1 and breast cancer need to be more clarified by further studies. Establishing a specific screening program of these patients may help to make an earlier diagnosis of breast cancer.

Keywords: neurofibromatosis, breast, sarcoma, cancer

Procedia PDF Downloads 121

Authors: Delphine Vendryes, Dushyanth Sekhar, Baojia Tong, Matthew Theisen, Chester Curme

Abstract:

Much of the data that inform the decisions of governments, corporations and individuals are harvested from unstructured documents. Data extraction is defined here as a process that turns non-machine-readable information into a machine-readable format that can be stored, for instance, in a database. In financial services, introducing more automation in data extraction pipelines is a major challenge. Information sought by financial data consumers is often buried within vast bodies of unstructured documents, which have historically required thorough manual extraction. Automated solutions provide faster access to non-machine-readable datasets, in a context where untimely information quickly becomes irrelevant. Data quality standards cannot be compromised, so automation requires high data integrity. This multifaceted task is broken down into smaller steps: ingestion, table parsing (detection and structure recognition), text analysis (entity detection and disambiguation), schema-based record extraction, user feedback incorporation. Selected intermediary steps are phrased as machine learning problems. Solutions leveraging cutting-edge approaches from the fields of computer vision (e.g. table detection) and natural language processing (e.g. entity detection and disambiguation) are proposed.

Keywords: computer vision, entity recognition, finance, information retrieval, machine learning, natural language processing

Procedia PDF Downloads 114

Authors: Augustina Konadu Larbi-Ampofo, Ekemini Umoinwek

Abstract:

Background: Hypercalcaemia is a common electrolyte imbalance that increases mortality if poorly controlled. Primary hyperparathyroidism often presents like this with a prevalence of 0.1-0.3%. Management due to an ectopic parathyroid adenoma in the mediastinum is challenging, especially in a patient with a pacemaker. Case Presentation: A 79-year-old woman with a history of a previous cardiac arrest, permanent pacemaker, ischaemic heart disease, bilateral renal calculi, rectal polyps, liver cirrhosis, and a family history of hyperthyroidism presented to the emergency department with acute back pain. Management and Outcome: The patient was diagnosed with primary hyperparathyroidism due to her elevated corrected calcium and parathyroid hormone levels. Parathyroid investigations consisting of an NM MIBI scan, SPECT-CT, 4D parathyroid scan, and an ultrasound scan of the neck and thorax confirmed an ectopic parathyroid adenoma in the mediastinum at the level of the aortic arch, along with benign thyroid nodules. The location of the adenoma warranted a thoracoscopic surgical approach; however, the presence of her pacemaker and other cardiovascular conditions predisposed her to a potentially poorer post-operative outcome. Discussion: Mediastinal ectopic parathyroid adenomas are rare and difficult to diagnose and treat, often needing a multimodal imaging approach for accurate localisation. Surgery is a definitive treatment; however, in this patient, long-term medical treatment with cinacalcet was the only next suitable treatment option. The difficulty with this is that cinacalcet tackles the biochemical markers of the disease entity and not the disease itself, leaving room for what happens next if there is refractory/uncontrolled hypercalcaemia in this patient with a pacemaker. Moreover, the coexistence of her multiple conditions raises the suspicion of an underlying multisystemic or multiple endocrine disorder, with multiple endocrine neoplasia coming to mind, necessitating further genetic or autoimmune investigations. Conclusion: Mediastinal ectopic parathyroid adenomas are rare, with diagnostic and management challenges.

Keywords: mediastinal ectopic parathyroid adenoma, hyperparathyroidism, SPECT/CT, nuclear medicine, multimodal imaging

Procedia PDF Downloads 23

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

Abstract:

Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

Procedia PDF Downloads 412

Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

Abstract:

Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

Procedia PDF Downloads 419

Authors: Okan Cakir, Ibrahim Arziman, Derya Can, Mete Erkencigil, Murat Durusu, S. Mehmet Yasar

Abstract:

Introduction: Burn injuries from different types and ways commonly seen in emergency departments, approach and treatment varies from outpatient treatment to critical care unit. We wanted to mention a rare burn injury cause of air conditioner refrigerant. Case report: A 22-year-old case admitted to emergency department with a complaint of left hand burn injury and pain. In his history, he said that an accident was occurred before 30 minutes from admission while he had been trying to repair the air conditioner. Air conditioner refrigerant suddenly had erupted from its tank and burned his hand. In physical examination of extremities, second-degree burn bullae on the left hand on second and third proximal phalanx, between first and second phalanx palmar side and on hypothenar region and on third and fourth proximal phalanx and also hyperemia from hand to wrist were seen. There was no motor and sensorial deficiency. As a treatment, local silver sulfadiazine applied to the burn area and analgesic prescribed. The case called for the clinical follow-up to the plastic surgery department. Conclusion: The clinician should take a comprehensive and careful anamnesis for suitable and right management and treatment as in this case in which as well as rare and occurs different way.

Keywords: air conditioner refrigerant, burn, emergency department, rare

Procedia PDF Downloads 341

Authors: Kristýna Weissová

Abstract:

This study is focused on two selected model taxa of invertebrates - Hymenoptera: Aculeata and Lepidopterawithnocturnalactivity, recordedatthesitesof lignite dumps and their surroundings in the North Bohemian Lignite Basin, Czech Republic. There search was conducted on 10 landfills, 3 study areas were determined on each landfill - primary and secondary succession and recultivation. A total of 3,202 individuals belonging to 232 species and 17 families of sagebrushinsects were collected. died, 74%of the species occurred on the primary succes sionare as, that is 2x more species than on the reclaimed areas. Of the total number of species and on all areas, 60 rare species were recorded - 29 vulnerable, 21 endangered, 8 critically endangered, and 2 extinct The areas of primary succession were again confirmed to be the richest in terms of rare species, hosting 39 rare species of Hymenoptera: Aculeata. In addition, bothextinct species were represented only on plots of primary succession. The family Crabronidae had the largestre presentation of species on theareasofleft primary succession, the family Halictidae was the most represented on the reclaimed areas and areas of secondary succession. A total of 3,634 moths were collected, assigned to 262 species and 10 families. A similar number of species occurred on the primary succession and reclaimed areas, but the reclaimed area had a greater abundance. Secondary successionsiteshostedha lf as many species and alsocontainedlow abundance compared to other management types. The results show that there claimed areas host a numerically larger group and more species of moths than the successionalareas. Rare species did not occur at any site. A higher number of days in locations without water bodies, wetland vegetation, and locations with a highre presentation of woody species. It is advisable to combine individual types of landscape management in such a way as to create a colorfulmosaic that supports biodiversity. In particular, we recommend incorporating natural successionintoreclamation plans, which is a refuge for many rare species of invertebrates, which has not yetbeenroutinely and purposefully practiced.

Keywords: hymenoptera: aculeata, lepidoptera, reclamation, succession, post-mining ara

Procedia PDF Downloads 117

Authors: Vera Varazashvili, Murman Tsarakhov, Tamar Mirianashvili, Teimuraz Pavlenishvili, Tengiz Machaladze, Mzia Khundadze

Abstract:

Standard Gibbs energy of formation ΔGfor(298.15) of lanthanide-iron double oxides of garnet-type crystal structure R3Fe5O12 - RIG (R – are rare earth ions) from initial oxides are evaluated. The calculation is based on the data of standard entropies S298.15 and standard enthalpies ΔH298.15 of formation of compounds which are involved in the process of garnets synthesis. Gibbs energy of formation is presented as temperature function ΔGfor(T) for the range 300-1600K. The necessary starting thermodynamic data were obtained from calorimetric study of heat capacity – temperature functions and by using the semi-empirical method for calculation of ΔH298.15 of formation. Thermodynamic functions for standard temperature – enthalpy, entropy and Gibbs energy - are recommended as reference data for technological evaluations. Through the isostructural series of rare earth-iron garnets the correlation between thermodynamic properties and characteristics of lanthanide ions are elucidated.

Keywords: calorimetry, entropy, enthalpy, heat capacity, gibbs energy of formation, rare earth iron garnets

Procedia PDF Downloads 384

Authors: Muhandiram Rallage Ruvini Nisansala Yatigammana, Anuruddhika Kumudu Kumari Rajakaruna Jayathilaka

Abstract:

Sports injuries are common among teenagers and children engaged in organized sports. While most sports injuries are typical, some rare occurrences involve conditions such as eye, dental, cervical, and rare internal organ injuries, such as pancreatic injuries. These injuries, especially traumatic pancreatitis, require prompt attention due to their potential for severe and sometimes fatal complications. This case revolves around a real accident involving a 12-year-old girl, Piyumi, who suffered a face-to-face collision during netball practice, resulting in severe abdominal pain. After a medical examination, she was diagnosed with a rare pancreatic injury, uncommon in children compared to adults. In Piyumi’s case, she had a grade 3 pancreatic injury and underwent non-surgical management, successfully healing her wound without surgery. The study attempts to fill empirical and population gaps, addressing a rarely discussed injury experienced by a 12-year-old female netball player. The paper will also provide an in-depth understanding of pancreatic injury, which is a rare sports injury. The study’s main objective was to investigate the incidence and characteristics of pancreatic injury, particularly focusing on pancreatic trauma, among children and adolescents engaged in high-impact sports, such as netball. This research adopted a case study strategy, employing interviews as the primary data collection method. Interviews were conducted with Piyumi, her parents, and the two specialist doctors directly involved in her treatment, providing firsthand accounts and insights. By examining the case, the paper arrives at three main conclusions. Firstly, pancreatic damage is uncommon, especially in the sports world, and proper diagnosis is essential to avoiding health concerns, particularly for minors. Secondly, CT (Computed Tomography) was useful in locating the injury, as injuries can be diagnosed very well with Computed Tomography (CT) images. Finally, and most importantly, pancreatic injuries are infrequent, but trauma can still occur, particularly in high-impact sports or accidents involving extreme force or falls. These injuries should be accurately diagnosed and treated promptly.

Keywords: child athlete, pancreatic injury, rare sports injuries, sportswoman

Procedia PDF Downloads 74

Authors: Vera Varazashvili, Murman Tsarakhov, Tamar Mirianashvili, Teimuraz Pavlenishvili, Tengiz Machaladze, Mzia Khundadze

Abstract:

Standard Gibbs energy of formation ΔGfor(298.15) of lanthanide-iron double oxides of garnet-type crystal structure R3Fe5O12 - RIG (R – are rare earth ions) from initial oxides are evaluated. The calculation is based on the data of standard entropies S298.15 and standard enthalpies ΔH298.15 of formation of compounds which are involved in the process of garnets synthesis. Gibbs energy of formation is presented as temperature function ΔGfor(T) for the range 300-1600K. The necessary starting thermodynamic data were obtained from calorimetric study of heat capacity and by using the semi-empirical method for calculation of ΔH298.15 (formation). Thermodynamic functions for standard temperature – enthalpy, entropy and Gibbs energy - are recommended as reference data for technological evaluations. Through the isostructural series of rare earth-iron garnets the correlation between thermodynamic properties and characteristics of lanthanide ions are elucidated.

Keywords: calorimetry, entropy, heat capacity, Gibbs energy of formation, rare earth iron garnets

Procedia PDF Downloads 355

Authors: Sandhya Armoogum

Abstract:

In distributed systems and in open systems such as the Internet, often mobile code has to run on unknown and potentially hostile hosts. Mobile code such as a mobile agent is vulnerable when executing on remote hosts. The mobile agent may be subjected to various attacks such as tampering, inspection, and replay attack by a malicious host. Much research has been done to provide solutions for various security problems, such as authentication of mobile agent and hosts, integrity and confidentiality of the data carried by the mobile agent. Many of such proposed solutions in literature are not suitable for open systems whereby the mobile code arrives and executes on a host which is not known and trusted by the mobile agent owner. In this paper, we propose the adoption of the reference monitor by hosts in an open system for providing trust and security for mobile code execution. A secure protocol for the distribution of the reference monitor entity is described. This reference monitor entity on the remote host may also provide several security services such as authentication and integrity to the mobile code.

Keywords: security, mobile agents, reference monitor, trust

Procedia PDF Downloads 442

Authors: Zaqiatul Mardiah, Afdol Tharik Wastono, Abdul Muta'ali

Abstract:

In general, the Arabic preposition ‘ala encodes the sense of UP-DOWN schema. However, the use of the preposition ‘ala can has many extended schemas that still have relation to its primary sense. In this paper, we show how the framework of cognitive linguistics (CL) based on image schemas can be applied to analyze the spatial semantic of the use of preposition ‘ala in the horizontal and vertical axes. The preposition ‘ala is usually used in the locative sense in which one physical entity is UP-DOWN relation to another physical entity. In spite of that, the cognitive analysis of ‘ala justifies the use of this preposition in many situations to seemingly encode non-up down-related spatial relations, and non-physical relation. This uncovers some of the unsolved issues concerning prepositions in general and the Arabic prepositions in particular the use of ‘ala as a sample. Using the Arabic corpus data, we reveal that in many cases and situations, the use of ‘ala is extended to depict relations other than the ones where the Trajector (TR) is actually in up-down relation to the Landmark (LM). The instances analyzed in this paper show that ‘ala encodes not only the spatial relations in which the TR and the LM are horizontally or vertically related to each other, but also non-spatial relations.

Keywords: image schema, preposition, spatial semantic, up-down relation

Procedia PDF Downloads 148

Authors: Shahla Afshar Paiman, Sedigheh Madani, Zahra Hosseininezhad

Abstract:

Introduction: The most common causes of appendix luminal obstruction are fecaliths and lymphoid follicle hyperplasia. Appendicitis is a very rare Gastrointestinal complication of varicella zosterand it is mostly observed in immune-compromised patient. Case presentation: Here we reported a case of varicella zoster-related perforated appendicitis with synchronous encephalopathy as a first presentation of chickenpox in a 10-year-old boy. He had no history of immunodeficiency or predisposing factors and his diagnosis is confirmed by both serological lab tests and abdominal fluid (peritoneal secretion) PCR. Conclusion: Varicella zoster could cause appendicitis as first presentation, along with other critical complications look likes encephalopathy.

Keywords: Varicella zoster, appendicitis, encephalitis, children

Procedia PDF Downloads 60

Authors: Daniel C. Bonzo

Abstract:

Practical considerations lead to the use of unit of analysis within subjects, e.g., bleeding episodes or treatment-related adverse events, in rare disease settings. This is coupled with data augmentation techniques such as extrapolation to enlarge the subject base. In general, one can think about extrapolation of data as extending information and conclusions from one estimand to another estimand. This approach induces hierarchichal clustered data with varying cluster sizes. Extrapolation of clinical trial data is being accepted increasingly by regulatory agencies as a means of generating data in diverse situations during drug development process. Under certain circumstances, data can be extrapolated to a different population, a different but related indication, and different but similar product. We consider here the problem of estimation (point and interval) using a mixed-models approach under an extrapolation. It is proposed that estimators (point and interval) be constructed using weighting schemes for the clusters, e.g., equally weighted and with weights proportional to cluster size. Simulated data generated under varying scenarios are then used to evaluate the performance of this approach. In conclusion, the evaluation result showed that the approach is a useful means for improving statistical inference in rare disease settings and thus aids not only signal detection but risk-benefit evaluation as well.

Keywords: clustered data, estimand, extrapolation, mixed model

Procedia PDF Downloads 137

Authors: Thieu-Thi Tra My

Abstract:

Undifferentiated embryonal sarcoma of the liver (UESL), a rare malignant mesenchymal tumor, is commonly seen in children. The symptoms and imaging were not specific, so it could be mimicked with other tumors or liver abscesses. The tumor often appears as a large heterogeneous echoic solid mass with small cystic areas while showing a cyst-like appearance on CT and MRI. The histopathological manifestation of the UESL consisted of stellate-shaped and spindle cells scattered on a myxoid background with high mitotic count. Cells with multiple or bizarre nuclear were also observed. Here, we aimed to describe a 9-year-old male diagnosed with UESL focused on imaging and histopathological characteristics.

Keywords: undifferentiated embryonal sarcoma of liver, UESL, liver sarcoma, liver tumor, children

Procedia PDF Downloads 74

Authors: Guangzhuang Yu, Chun-Chu Liu

Abstract:

With the advent of the Internet era in recent years, social music education has gradually shifted from the original entity education mode to the mode of entity plus network teaching. No matter for school music education, professional music education or social music education, the teaching quality is the most important evaluation index. Regarding the research on teaching quality evaluation, scholars at home and abroad have contributed a lot of research results on the basis of multiple methods and evaluation subjects. However, to our best knowledge the complete evaluation model for the virtual teaching interaction mode of the emerging network music education Application (APP) has not been established. This research firstly found out the basic dimensions that accord with the teaching quality required by the three parties, constructing the quality evaluation index system; and then, on the basis of expounding the connotation of each index, it determined the weight of each index by using method of fuzzy analytic hierarchy process, providing ideas and methods for scientific, objective and comprehensive evaluation of the teaching quality of network education APP.

Keywords: network music education APP, teaching quality evaluation, index and connotation

Procedia PDF Downloads 129

Authors: Gia Surguladze, Nino Topuria, Lily Petriashvili, Giorgi Surguladze

Abstract:

Modeling of building processes of a multimodal freight transportation support information system is discussed based on modern CASE technologies. Functional efficiencies of ports in the eastern part of the Black Sea are analyzed taking into account their ecological, seasonal, resource usage parameters. By resources, we mean capacities of berths, cranes, automotive transport, as well as work crews and neighbouring airports. For the purpose of designing database of computer support system for Managerial (Logistics) function, using Object-Role Modeling (ORM) tool (NORMA – Natural ORM Architecture) is proposed, after which Entity Relationship Model (ERM) is generated in automated process. The software is developed based on Process-Oriented and Service-Oriented architecture, in Visual Studio.NET environment.

Keywords: seaport resources, business-processes, multimodal transportation, CASE technology, object-role model, entity relationship model, SOA

Procedia PDF Downloads 431

Authors: Sham Kidane, Fitsum Gaim, Ibrahim Abdella, Sirak Asmerom, Yoel Ghebrihiwot, Simon Mulugeta, Natnael Ambassager

Abstract:

The lack of annotated datasets is a bottleneck to the progress of NLP in low-resourced languages. The work presented here consists of large-scale annotated datasets and models for the named entity recognition (NER) system for the Tigrinya language. Our manually constructed corpus comprises over 340K words tagged for NER, with over 118K of the tokens also having parts-of-speech (POS) tags, annotated with 12 distinct classes of entities, represented using several types of tagging schemes. We conducted extensive experiments covering convolutional neural networks and transformer models; the highest performance achieved is 88.8% weighted F1-score. These results are especially noteworthy given the unique challenges posed by Tigrinya’s distinct grammatical structure and complex word morphologies. The system can be an essential building block for the advancement of NLP systems in Tigrinya and other related low-resourced languages and serve as a bridge for cross-referencing against higher-resourced languages.

Keywords: Tigrinya NER corpus, TiBERT, TiRoBERTa, BiLSTM-CRF

Procedia PDF Downloads 133

Authors: Pamela Ventola, Laurel Bales, Sara Florczyk

Abstract:

Background: Fully remote or hybrid administration of clinical outcome measures in rare neurodevelopmental disorders trials is increasing due to the ongoing pandemic and recognition that remote assessments reduce the burden on families. Many assessments in rare neurodevelopmental disorders trials are complex; however, remote/hybrid trials readily allow for the use of centralized raters to administer and score the scales. The use of centralized raters has many benefits, including reducing site burden; however, a specific impact on data quality has not yet been determined. Purpose: The current study has two aims: a) evaluate differences in data quality between administration of a standardized clinical interview completed by centralized raters compared to those completed by site raters and b) evaluate improvement in accuracy of scoring standardized developmental assessments when scored centrally compared to when scored by site raters. Methods: For aim 1, the Vineland-3, a widely used measure of adaptive functioning, was administered by site raters (n= 52) participating in one of four rare disease trials. The measure was also administered as part of two additional trials that utilized central raters (n=7). Each rater completed a comprehensive training program on the assessment. Following completion of the training, each clinician completed a Vineland-3 with a mock caregiver. Administrations were recorded and reviewed by a neuropsychologist for administration and scoring accuracy. Raters were able to certify for the trials after demonstrating an accurate administration of the scale. For site raters, 25% of each rater’s in-study administrations were reviewed by a neuropsychologist for accuracy of administration and scoring. For central raters, the first two administrations and every 10th administration were reviewed. Aim 2 evaluated the added benefit of centralized scoring on the accuracy of scoring of the Bayley-3, a comprehensive developmental assessment widely used in rare neurodevelopmental disorders trials. Bayley-3 administrations across four rare disease trials were centrally scored. For all administrations, the site rater who administered the Bayley-3 scored the scale, and a centralized rater reviewed the video recordings of the administrations and also scored the scales to confirm accuracy. Results: For aim 1, site raters completed 138 Vineland-3 administrations. Of the138 administrations, 53 administrations were reviewed by a neuropsychologist. Four of the administrations had errors that compromised the validity of the assessment. The central raters completed 180 Vineland-3 administrations, 38 administrations were reviewed, and none had significant errors. For aim 2, 68 administrations of the Bayley-3 were reviewed and scored by both a site rater and a centralized rater. Of these administrations, 25 had errors in scoring that were corrected by the central rater. Conclusion: In rare neurodevelopmental disorders trials, sample sizes are often small, so data quality is critical. The use of central raters inherently decreases site burden, but it also decreases rater variance, as illustrated by the small team of central raters (n=7) needed to conduct all of the assessments (n=180) in these trials compared to the number of site raters (n=53) required for even fewer assessments (n=138). In addition, the use of central raters dramatically improves the quality of scoring the assessments.

Keywords: neurodevelopmental disorders, clinical trials, rare disease, central raters, remote trials, decentralized trials

Procedia PDF Downloads 174

Authors: Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Veronique Dhennin, Jean-Marc Lacorte, Philippe Froguel, Amelie Bonnefond

Abstract:

In the population of Guadeloupe Island (472,124 inhabitants and 80% of subjects of African descent), overweight and obesity were estimated at 23% and 9% respectively among children. High prevalence of diabetes has been reported (~10%) in the adult population. Nevertheless, no study has investigated the contribution of gene mutations to childhood obesity in this population. We aimed to investigate rare genetic mutations in genes involved in monogenic obesity or diabetes in obese Afro-Caribbean children from Guadeloupe Island using next-generation sequencing. The present investigation included unrelated obese children, from a previous study on overweight conducted in Guadeloupe Island in 2013. We sequenced coding regions of 59 genes involved in monogenic obesity or diabetes. A total of 25 obese schoolchildren (with Z-score of body mass index [BMI]: 2.0 to 2.8) were screened for rare mutations (non-synonymous, splice-site, or insertion/deletion) in 59 genes. Mean age of the study population was 12.4 ± 1.1 years. Seventeen children (68%) had insulin-resistance (HOMA-IR > 3.16). A family history of obesity (mother or father) was observed in eight children and three of the accompanying parent presented with type 2 diabetes. None of the children had gonadotrophic abnormality or mental retardation. We detected five rare heterozygous mutations, in four genes involved in monogenic obesity, in five different obese children: MC4R p.Ile301Thr and SIM1 p.Val326Thrfs*43 mutations which were pathogenic; SIM1 p.Ser343Pro and SH2B1 p.Pro90His mutations which were likely pathogenic; and NTRK2 p.Leu140Phe that was of uncertain significance. In parallel, we identified seven carriers of mutation in ABCC8 or KCNJ11 (involved in monogenic diabetes), which were of uncertain significance (KCNJ11 p.Val13Met, KCNJ11 p.Val151Met, ABCC8 p.Lys1521Asn and ABCC8 p.Ala625Val). Rare pathogenic or likely pathogenic mutations, linked to severe obesity were detected in more than 15% of this Afro-Caribbean population at high risk of obesity and type 2 diabetes.

Keywords: childhood obesity, MC4R, monogenic obesity, SIM1

Procedia PDF Downloads 195

Authors: Yuncang Li, Cuie Wen

Abstract:

Biodegradable metallic materials such as magnesium (Mg)-based alloys have attracted extensive interest for use as bone implant materials. However, the high biodegradation rate of existing Mg alloys in the physiological environment of human body leads to losing mechanical integrity before adequate bone healing and producing a large volume of hydrogen gas. Therefore, slowing down the biodegradation rate of Mg alloys is a critical task in developing new biodegradable Mg alloy implant materials. One of the most effective approaches to achieve this is to strategically design new Mg alloys with low biodegradation rate, excellent biocompatibility, and enhanced mechanical properties. Our research selected biocompatible and biofunctional alloying elements such as zirconium (Zr), strontium (Sr), and rare earth elements (REEs) to alloy Mg and has developed a new series of Mg-Zr-Sr-REEs alloys for biodegradable implant applications. Research results indicated that Sr and Zr additions could refine the grain size, decrease the biodegradation rate, and enhance the biological behaviors of the Mg alloys. The REE addition, such as holmium (Ho) and dysprosium (Dy) to Mg-Zr-Sr alloys resulted in enhanced mechanical strength and decreased biodegradation rate. In addition, Ho and Dy additions (≤ 5 wt.%) to Mg-Zr-Sr alloys led to enhancement of cell adhesion and proliferation of osteoblast cells on the Mg-Zr-Sr-Ho/Dy alloys.

Keywords: biocompatibility, magnesium, mechanical and biodegrade properties, rare earth elements

Procedia PDF Downloads 121

Authors: Ahmed Shaik

Abstract:

Estimates are very critical in accounting and Financial Reporting cannot be complete without these estimates. There is a long list of accounting estimates that are required to be made to compute Net Income and to determine the value of assets and liabilities. To name a few, valuation of inventory, depreciation, valuation of goodwill, provision for bad debts and estimated warranties, etc. require the use of different valuation models and forecasts. Different business entities under the same industry may use different approaches to measure the value of financial items being reported in Income Statement and Balance Sheet. The disclosure notes do not provide enough details of the approach used by a business entity to arrive at the value of a financial item. Lack of details in the disclosure notes makes it difficult to compare the financial performance of one business entity with the other in the same industry. This paper is an attempt to identify the lack of enough information about accounting estimates in disclosure notes, the impact of the absence of details of accounting estimates on the comparability of financial data and financial analysis. An attempt is made to suggest the detailed disclosure while taking care of the cost and benefit of making such disclosure.

Keywords: accounting estimates, disclosure notes, financial reporting, transparency

Procedia PDF Downloads 200

Authors: Shazia Shamim, Pallavi Gautam

Abstract:

The present study describes the presence of rare or endangered plants from Poonch Dist., which spread over 1674 Km sq. located between latitude 330 25' N to 340 01' N and longitude 730 58' E to 740 35' E forming a part of the Northwest Himalaya in Jammu and Kashmir state of India, with the aim of suggesting the strategy for the conservation and promotion of cultivation of rare and endangered medicinal plants, as well as developing traditional knowledge of medicinal plants. The main threats to biodiversity and ecosystem are overexploitation, global climate change, habitat loss, fragmentation, pollution, and invasion of alien species and disturbance of community structure. Surveys were carried out during 2015-2016 throughout the Poonch valley. During the field survey, various criteria of International Union for the conservation of nature for categorizing threatened plants, extent of occurrence, area of occupancy, probability of extinction, etc. were measured. The rarity of species was determined by field study, visual estimations, and literature. During the collection, it was observed that few rare and endangered species which were present in the study area, are also mentioned in the prescribed red data book of Indian plants, International Union for conservation of nature, list of threatened species and list of Botanical Survey of India presented by its Northern Regional Centre. The study was based on extensive surveys of the study area and then concluded by preparing a list of plant species occurring in different seasons, the photographs of all these plant species were collected. Actual threats to the population of a selected plant species in a given area were recorded by direct observation. The present paper provides information about 22 rare and endangered medicinal plant species belonging to 18 families that are used by the native of these areas. Information provided includes botanical name, family name, local name, habitat, part used, ethno medicinal uses and brief preparation of the reported plant species is presented in the present work.

Keywords: biodiversity, traditional knowledge, International Union for Conservation of Nature, Botanical Survery of India

Procedia PDF Downloads 135

Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev

Abstract:

Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.

Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI

Procedia PDF Downloads 39

Authors: Xiaoyuan Chen

Abstract:

Background: This study aimed to characterize the epidemiological and clinical features of five rare subtypes of hepatocellular carcinoma (HCC) and to create a competing risk nomogram for predicting cancer-specific survival. Methods: This study used the Surveillance, Epidemiology, and End Results database to analyze the clinicopathological data of 50,218 patients with classic HCC and five rare subtypes (ICD-O-3 Histology Code=8170/3-8175/3) between 2004 and 2018. The annual percent change (APC) was calculated using Joinpoint regression, and a nomogram was developed based on multivariable competing risk survival analyses. The prognostic performance of the nomogram was evaluated using the Akaike information criterion, Bayesian information criterion, C-index, calibration curve, and area under the receiver operating characteristic curve. Decision curve analysis was used to assess the clinical value of the models. Results: The incidence of scirrhous carcinoma showed a decreasing trend (APC=-6.8%, P=0.025), while the morbidity of other rare subtypes remained stable from 2004 to 2018. The incidence-based mortality plateau in all subtypes during the period. Clear cell carcinoma was the most common subtype (n=551, 1.1%), followed by fibrolamellar (n=241, 0.5%), scirrhous (n=82, 0.2%), spindle cell (n=61, 0.1%), and pleomorphic (n=17, ~0%) carcinomas. Patients with fibrolamellar carcinoma were younger and more likely to have non-cirrhotic liver and better prognoses. Scirrhous carcinoma shared almost the same macro clinical characteristics and outcomes as classic HCC. Clear cell carcinoma tended to occur in the Asia-Pacific elderly male population, and more than half of them were large HCC (Size>5cm). Sarcomatoid (including spindle cell and pleomorphic) carcinoma was associated with larger tumor size, poorer differentiation, and more dismal prognoses. The pathological subtype, T stage, M stage, surgery, alpha-fetoprotein, and cancer history were identified as independent predictors in patients with rare subtypes. The nomogram showed good calibration, discrimination, and net benefits in clinical practice. Conclusion: The rare subtypes of HCC had distinct clinicopathological features and biological behaviors compared with classic HCC. Our findings could provide a valuable reference for clinicians. The constructed nomogram could accurately predict prognoses, which is beneficial for individualized management.

Keywords: hepatocellular carcinoma, pathological subtype, fibrolamellar carcinoma, scirrhous carcinoma, clear cell carcinoma, spindle cell carcinoma, pleomorphic carcinoma

Procedia PDF Downloads 80

Authors: R. Dubey, M. Sarwan, S. Singh

Abstract:

We have investigated the phase transition pressure and associated volume collapse in Sm1– X EuX S alloy (0≤x≤1) which shows transition from discontinuous to continuous as x is reduced. The calculated results from present approach are in good agreement with experimental data available for the end point members (x=0 and x=1). The results for the alloy counter parts are also in fair agreement with experimental data generated from the vegard’s law. An improved interaction potential model has been developed which includes coulomb, three body interaction, polarizability effect and overlap repulsive interaction operative up to second neighbor ions. It is found that the inclusion of polarizability effect has improved our results.

Keywords: elastic constants, high pressure, phase transition, rare earth compound

Procedia PDF Downloads 423

Authors: Farzaneh Sarbandi Farahani

Abstract:

Drought and decrease in the level of lakes in recent years due to global warming and excessive use of water resources feeding lakes are of great importance, and this research has provided a structure to investigate this issue. First, the information required for simulating lake drought is provided with strong references and necessary assumptions. Entity-Component-System (ECS) structure has been used for simulation, which can consider assumptions flexibly in simulation. Three major users (i.e., Industry, agriculture, and Domestic users) consume water from groundwater and surface water (i.e., streams, rivers and lakes). Lake Mead has been considered for simulation, and the information necessary to investigate its drought has also been provided. The results are presented in the form of a scenario-based design and optimal strategy selection. For optimal strategy selection, a deep reinforcement algorithm is developed to select the best set of strategies among all possible projects. These results can provide a better view of how to plan to prevent lake drought.

Keywords: drought simulation, Mead lake, entity component system programming, deep reinforcement learning

Procedia PDF Downloads 92

Authors: Sandra H. Fukurozaki, Andre L. N. Silva, Joao B. F. Neto, Fernando J. G. Landgraf

Abstract:

Nowadays, the rare earth (RE) metals play an important role in emerging technologies that are crucial for the decarbonisation of the energy sector. Their unique properties have led to increasing clean energy applications, such as wind turbine generators, and hybrid and electric vehicles. Despite the substantial media coverage that has recently surrounded the mining and processing of rare earth metals, very little quantitative information is available concerning their subsequent life stages, especially related to the metallic production of didymium (Nd-Pr) in fluoride molten salt system. Here we investigate a gate to gate scale life cycle assessment (LCA) of the didymium electrolysis based on three different scenarios of operational conditions. The product system is modeled with SimaPro Analyst 8.0.2 software, and IMPACT 2002+ was applied as an impact assessment tool. In order to develop a life cycle inventories built in software databases, patents, and other published sources together with energy/mass balance were utilized. Analysis indicates that from the 14 midpoint impact categories evaluated, the global warming potential (GWP) is the main contributors to the total environmental burden, ranging from 2.7E2 to 3.2E2 kg CO2eq/kg Nd-Pr. At the damage step assessment, the results suggest that slight changes in materials flows associated with enhancement of current efficiency (between 2.5% and 5%), could lead a reduction up to 12% and 15% of human health and climate change damage, respectively. Additionally, this paper highlights the knowledge gaps and future research efforts needing to understand the environmental impacts of Nd-Pr electrolysis process from the life cycle perspective.

Keywords: didymium electrolysis, environmental impacts, life cycle assessment, rare earth metals

Procedia PDF Downloads 189

Authors: S. Biondi, V. Catania, R. Di Natale, A. R. Intilisano, D. Panno

Abstract:

One of the major goals of Spoken Dialog Systems (SDS) is to understand what the user utters. In the SDS domain, the Spoken Language Understanding (SLU) Module classifies user utterances by means of a pre-definite conceptual knowledge. The SLU module is able to recognize only the meaning previously included in its knowledge base. Due the vastity of that knowledge, the information storing is a very expensive process. Updating and managing the knowledge base are time-consuming and error-prone processes because of the rapidly growing number of entities like proper nouns and domain-specific nouns. This paper proposes a solution to the problem of Name Entity Recognition (NER) applied to a SDS domain. The proposed solution attempts to automatically recognize the meaning associated with an utterance by using the PANKOW (Pattern based Annotation through Knowledge On the Web) method at runtime. The method being proposed extracts information from the Web to increase the SLU knowledge module and reduces the development effort. In particular, the Google Search Engine is used to extract information from the Facebook social network.

Keywords: spoken dialog system, spoken language understanding, web semantic, name entity recognition

Procedia PDF Downloads 338