Search results for: rare disorders

Authors: Pamela Ventola, Laurel Bales, Sara Florczyk

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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

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Authors: Yadav Shyamjeet Maniram

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Despite reports of more than seventy million population of India affected by rare diseases, it rarely figured on the agenda of the Indian scientist and policymakers. Hitherto ignored, a fresh initiative is being attempted to establish the first national registry for rare diseases. Though there are registries for rare diseases, established by the clinicians and patient advocacy groups, they are isolated, scattered and lacks information sharing mechanism. It is the first time that there is an effort from the government of India to make an initiative on the rare disease registries, which would be more formal and systemic in nature. Since there is lack of epidemiological evidence for the rare disease in India, it is interesting to note how rare disease policy is being attempted in the vacuum of evidence required for the policy process. The objective of this study is to analyse rare disease registry creation and implementation from the parameters of evolutionary policy perspective in the absence of evidence for the policy process. This study will be exploratory and qualitative in nature, primarily based on the interviews of stakeholders involved in the rare disease registry creation and implementation. Some secondary data will include various documents related to rare disease registry. The expected outcome of this study would be on the role of stakeholders in the generation of evidence for the rare disease registry creation and implementation. This study will also try to capture negotiations and deliberations on the ethical issues in terms of data collection, preservation, and protection.

Keywords: evolutionary policy perspective, evidence for policy, rare disease policy, rare disease in India

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Authors: Kinnsley Travis, Camerron M. Crowder

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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.

Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research

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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.

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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

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Authors: Dana Gabriková, Martin Mistrík, Jarmila Bernasovská, Iveta Tóthová, Jana Kisková

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The Roma (Gypsies) is a transnational minority with a high degree of consanguineous marriages. Similar to other genetically isolated founder populations, the Roma harbor a number of unique or rare genetic disorders. This paper discusses about a rare form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also called Hereditary Motor and Sensory Neuropathy type Russe, an autosomal recessive disease caused by mutation private to Roma characterized by abnormally increased density of non-myelinated axons. CMT4G was originally found in Bulgarian Roma and in 2009 two putative causative mutations in the HK1 gene were identified. Since then, several cases were reported in Roma families mainly from Bulgaria and Spain. Here we present a Slovak Roma family in which CMT4G was diagnosed on the basis of clinical examination and genetic testing. This case is a further proof of the role of the HK1 gene in pathogenesis of the disease. It confirms that mutation in the HK1 gene is a common cause of autosomal recessive CMT disease in Roma and should be considered as a common part of a diagnostic procedure.

Keywords: gypsies, HK1, HSMN-Russe, rare disease

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Authors: F. Ece Cetin, H. Nezih Ozdemir, Emre Kumral

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Ischemic stroke of the precuneal cortex (PC) alone is extremely rare. This study aims to evaluate the clinical, neurocognitive, and behavioural characteristics of isolated PC infarcts. We assessed neuropsychological and behavioral findings in 12 patients with isolated PC infarct among 3800 patients with ischemic stroke. To determine the most frequently affected brain locus in patients, we first overlapped the ischemic area of patients with specific cognitive disorders and patients without specific cognitive disorders. Secondly, we compared both overlap maps using the 'subtraction plot' function of MRIcroGL. Patients showed various types of cognitive disorders. All patients experienced more than one category of cognitive disorder, except for two patients with only one cognitive disorder. Lesion topographical analysis showed that damage within the anterior precuneal region might lead to consciousness disorders (25%), self-processing impairment (42%), visuospatial disorders (58%), and lesions in the posterior precuneal region caused episodic and semantic memory impairment (33%). The whole precuneus is involved in at least one body awareness disorder. The cause of the stroke was cardioembolism in 5 patients (42%), large artery disease in 3 (25%), and unknown in 4 (33%). This study showed a wide variety of neuropsychological and behavioural disorders in patients with precuneal infarct. Future studies are needed to achieve a proper definition of the function of the precuneus in relation to the extended cortical areas. Precuneal cortex region infarcts have been found to predict a source of embolism from the large arteries or heart.

Keywords: cognition, pericallosal artery, precuneal cortex, ischemic stroke

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Authors: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

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Newborn screening (NBS) is a part of routine newborn care in many countries worldwide to detect early any rare treatable conditions and inborn errors of metabolism (IEM). India has not started this program yet. In an attempt to understand the challenges in implementing a national newborn screening program in India, we initiated a pilot newborn screening project funded by the Government of Canada. Along with initiating the newborn screening at Kasturba Hospital, Manipal in South India, for screening six disorders (Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia, Biotinidase deficiency, Glucose-6-Phosphate Dehydrogenase deficiency (G-6PD) and Phenylketonurea), we also studied the awareness of various stakeholders on the newborn screening. In a period of nine months from August 2017 to March 2018 we could screen 1915 newborns (999 male and 916 female). The result showed that there were seven babies screened positive. This interim result points to an incidence rate of 1 in 270 children for these rare disorders collectively. This includes three confirmed cases of CH, two cases of G-6PD deficiency, and one case each for Galctosemia and CAH. A questionnaire based study to understand the awareness among various stakeholders revealed that there is little awareness among parents, adolescents and anganwadi workers (public health worker). The interim data points to the need for a national newborn screening programme in India. There is also an immediate need to undertake large-scale awareness programme to create knowledge on NBS among the various stakeholders.

Keywords: awareness, inborn errors of metabolism (IEM), newborn screening, rare disease

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Authors: Jeong-Hyun Yoo, Hanjung Kwon, Sung-Wook Cho

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Fused salt electrolysis was studied to make the high purity rare-earth metals using domestic rare-earth ore. The target metals of the fused salt electrolysis were Mm (Misch metal), La, Ce, Nd, etc. Fused salt electrolysis was performed with the supporting salt such as chloride and fluoride at the various temperatures and ampere. The metals made by fused salt electrolysis were analyzed to identify the phase and composition using the methods of XRD and ICP. As a result, the acquired rare-earth metals were the high purity ones which had more than 99% purity. Also, VIM (vacuum induction melting) was studied to make the kg level rare-earth alloy for the use of secondary battery and hydrogen storage. In order to indentify the physicochemical properties such as phase, impurity gas, alloy composition and hydrogen storage, the alloys were investigated. The battery characteristics were also analyzed through the various tests in the real production line of a battery company.

Keywords: domestic rare-earth ore, fused salt electrolysis, rare-earth materials, hydrogen storage alloy, secondary battery

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Authors: Brahim Sabir

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Psycho-Communication disorders negatively affect the academic curriculum for students in higher education. Thus, understanding these disorders, their causes and effects will give education specialists a tool for the decision, which will lead to the resolution of problems related to the integration of students with Psycho-Communication disorders. It is in this context that a statistical study was conducted, targeting the population object of study, namely Moroccan students. Pathological voice samples were recorded and analyzed acoustically with PRAAT software, in order to build a model that will be the basis for the objective diagnostic.

Keywords: psycho-communication disorders, acoustic analysis, PRAAT

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Authors: Gulsara Akanova, Akmaral Ismailova, Duisek Kamysbayev

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The separation of rare earth metals (REM) from a neodymium magnet has been widely studied in the last year. The waste of computer hard disk contains 25.41 % neodymium, 64.09 % iron, and <<1 % boron. To further the separation of rare-earth metals, the magnet dissolved in open and closed systems with nitric acid. In the closed system, the magnet was dissolved in a microwave sample preparation system at different temperatures and pressures and the dissolution process lasted 1 hour. In the open system, the acid dissolution of the magnet was conducted at room temperature and the process lasted 30-40 minutes. To remove the iron in the magnet, oxalic acid was used and precipitated as oxalates under both conditions. For separation of rare earth metals (Nd, Pr and Dy) from magnet waste is used sorption method.

Keywords: dissolution of the magnet, Neodymium magnet, rare earth metals, separation, Sorption

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Authors: Gabriella Tjondro, Julita Dortua Laurentina Nainggolan

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Introduction: There are several things affecting menstrual cycle, namely, nutritional status, diet, financial status of one’s household and exercises. The most commonly used parameter to calculate the fat in a human body is body mass index. Therefore, it is necessary to do research to prevent complications caused by menstrual disorder in the future. Design Study: This research is an observational analytical study with the cross-sectional-case control approach. Participants (n = 124; median age = 19.5 years ± SD 3.5) were classified into 2 groups: normal, NM (n = 62; BMI = 18-23 kg/m²) and obese, OB (n = 62; BMI = > 25 kg/m²). BMI was calculated from the equation; BMI = weight, kg/height, m². Results: There were 79.10% from obese group who experienced menstrual cycle disorders (n=53, 79.10%; p value 0.00; OR 5.25) and 20.90% from normal BMI group with menstrual cycle disorders. There were several factors in this research that also influence the menstrual cycle disorders such as stress (44.78%; p value 0.00; OR 1.85), sleep disorders (25.37%; p value 0.00; OR 1.01), physical activities (25.37%; p value 0.00; OR 1.24) and diet (10.45%; p value 0.00; OR 1.07). Conclusion: There is a significant relation between body mass index (obese) and menstrual cycle disorders. However, BMI is not the only factor that affects the menstrual cycle disorders. There are several factors that also can affect menstrual cycle disorders, in this study we use stress, sleep disorders, physical activities and diet, in which none of them are dominant.

Keywords: menstrual disorders, menstrual cycle, obesity, body mass index, stress, sleep disorders, physical activities, diet

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

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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

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Authors: S. Suman, G. N. Singh

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The present manuscript addresses the estimation procedure of population parameter using Poisson probability distribution when characteristic under study possesses a rare sensitive attribute. The generalized form of unrelated randomized response model is suggested in order to acquire the truthful responses from respondents. The resultant estimators have been proposed for two situations when the information on an unrelated rare non-sensitive characteristic is known as well as unknown. The properties of the proposed estimators are derived, and the measure of confidentiality of respondent is also suggested for respondents. Empirical studies are carried out in the support of discussed theory.

Keywords: Poisson distribution, randomized response model, rare sensitive attribute, non-sensitive attribute

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Authors: Barbara Gawda

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The study attempts to show the relationship between the structure of love by Sternberg and personality disorder traits. People with personality disorders experience dysfunctional emotionality. They manifest difficulties in experiencing love and closeness. Their relationships are marked by ambivalence and conflicts, e.g., as in borderline and narcissistic personality disorders. Considering love as a crucial human feeling, the study was planned to describe the associations between intimacy, passion, commitment, and personality disorder traits in a community sample. A sample of 194 participants was investigated (men and women in similar age and education levels). The following techniques were used: the SCID-II to assess personality disorders’ traits and the Triangular Love Scale by Sternberg to assess the components of love. Results show there are significant negative correlations between intimacy, commitment and personality disorders traits. Many personality disorders are associated with decreasing of intimacy and commitment, whereas passion was not associated with personality disorders’ traits. Results confirm that emotional impairments in personality disorders elicit conflicts and problems in relationships based on love and closeness.

Keywords: intimacy, commitment, love, passion, personality disorders

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Authors: George B. Abaka-Wood, Massimiliano Zanin, Jonas Addai-Mensah, William Skinner

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The versatility of froth flotation has made it vital in the beneficiation of rare earth elements minerals from either high or low-grade ores. There has been a significant increase in the quantity of iron oxide silicate-rich tailings generated from the extraction of primary commodities such as copper and gold in Australia, which have been identified to contain very low-grade rare earth oxides (≤ 1%). There is a vast knowledge gap in the beneficiation of rare earth oxides from such tailings. The aim of this research is to investigate the feasibility of using fatty acids as collectors for the flotation recovery and upgrade of rare earth oxides from selected iron-oxide silicate-rich tailings. Two forms of fatty acid collectors (oleic acid and sodium oleate) were tested in this investigation. Flotation tests were carried out using a 1.2 L Denver D-12 cell. The effects of pulp pH, fatty acid dosage, particle size distribution (-150 +75 µm, -75 +38 µm and -38 µm) and conventional depressants (sodium silicate and starch) dosage on flotation recovery of rare earth oxides were investigated. A comparison of the flotation results indicated that sodium oleate was the more efficient fatty acid for rare earth oxides flotation at all the pulp pH investigated. The flotation performance was found to be particle size-dependent. Both sodium silicate and starch were unselective in decreasing the recovery of iron oxides and silicate minerals, respectively with the corresponding decrease in rare earth oxides recovery. Generally, iron oxides and silicate minerals formed the substantial fraction of the flotation concentrates obtained, both in the absence and presence of depressants, resulting in a generally low rare earth oxides upgrade, even though rare earth oxides recoveries were high. The flotation tests carried out on the tailings sample suggest the feasibility of rare earth oxides recovery using fatty acids, although particle size distribution and minerals liberation are key limiting factors in achieving selective rare earth oxides upgrade.

Keywords: depressants, flotation, oleic acid, sodium oleate

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Authors: Mehmet Yavuz Hüseyinca, Şuayip Küpeli

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Sandstones from Upper Eocene - Oligocene Tepeköy formation (Member of Mezgit Group) that exposed on the eastern edge of Tuz Gölü (Salt Lake) were analyzed for their rare earth element (REE) contents. Average concentrations of ΣREE, ΣLREE (Total light rare earth elements) and ΣHREE (Total heavy rare earth elements) were determined as 31.37, 26.47 and 4.55 ppm respectively. These values are lower than UCC (Upper continental crust) which indicates grain size and/or CaO dilution effect. The chondrite-normalized REE pattern is characterized by the average ratios of (La/Yb)cn = 6.20, (La/Sm)cn = 4.06, (Gd/Lu)cn = 1.10, Eu/Eu* = 0.99 and Ce/Ce* = 0.94. Lower values of ΣLREE/ΣHREE (Average 5.97) and (La/Yb)cn suggest lower fractionation of overall REE. Moreover (La/Sm)cn and (Gd/Lu)cn ratios define less inclined LREE and almost flat HREE pattern when compared with UCC. Almost no Ce anomaly (Ce/Ce*) emphasizes that REE were originated from terrigenous material. Also depleted LREE and no Eu anomaly (Eu/Eu*) suggest an undifferentiated mafic provenance for the sandstones.

Keywords: central Anatolia, provenance, rare earth elements, REE, Tepeköy sandstone

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Authors: Tareg Belali, Mosleh Abomughaid, Muhanad Alhujaily

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HNF4a is one of the steroid hormone receptor family of transcription factors with roles in the development of the liver and the regulation of several critical metabolic pathways, such as glycolysis, drug metabolism, and apolipoproteins and blood coagulation. The transcriptional potency of HNF4a is well known due to its involvement in diabetes and other metabolic diseases. However, recently HNF4a has been discovered to be closely associated with several haematological disorders, mainly because of genetic mutations, drugs, and hepatic disorders. We review HNF4a structure and function and its role in haematological disorders. We discuss possible good therapies that are based on targeting HNF4a.

Keywords: hepatocyte nuclear factor 4 alpha, HNF4a nuclear receptor, steroid hormone receptor family of transcription factors, hematological disorders

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Authors: Wu Liching

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Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

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Authors: Andrew Anis Fakhrey Mosaad

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Introduction: There are many different types of sleep disorders, each with serious implications for a person's health and a large financial burden on society. Method: This review offers a framework based on the International Classification of Sleep Disorders to aid in the diagnosis and treatment of sleep disorders. Differentiating between primary and secondary insomnia is covered, along with pharmacological and nonpharmacological therapy options. Common abnormalities of the circadian rhythm are mentioned along with their therapies, such as light therapy and chronotherapy. This article discusses the identification and management of periodic limb movement disorder and restless legs syndrome. The therapy of upper airway resistance syndrome and obstructive sleep apnea are the main topics of discussion. Conclusion: The range of narcolepsy symptoms and results, as well as diagnostic procedures and treatment, are discussed. The causes, outcomes, and treatments of many types of insomnias, such as sleep terrors, somnambulism, and rapid eye movement (REM) behavior sleep disorders, are discussed.

Keywords: diagnosis, treatment, sleep disorders, insomnia

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Authors: Sarah Jacqueline Saram, Diya Baker, Jaishree Gandhewar

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Named after the Slovakian microbiologist, Miroslav Kocur, the Kocuria spp. are an emerging cause of significant human infections. Their predilection for immunocompromised states, such as malignancy and metabolic disorders, is highlighted in the literature. The coagulase-negative, gram-positive cocci are commensals found in the skin and oropharynx of humans, and their growing presence as responsible organisms in ocular infections cannot be ignored. The severe, rapid, and unrelenting disease course associated with Kocuria keratitis is underlined in the literature. However, the clinical features are variable, which may impede making a diagnosis. Here, we describe a first account of an initial misdiagnosis due to reliance on subjective analysis features on a confocal microscope, which ultimately led to a delay in commencing the correct treatment. In documenting this, we hope to underline to clinicians the difficulties in recognising a Kocuria Rhizophilia keratitis due to its similar clinical presentation to an Acanthamoeba Keratitis, thus emphasizing the need for early investigations such as corneal scrapes to secure the correct diagnosis and prevent further harm and vision loss for the patient.

Keywords: keratitis, cornea, infection, rare, Kocuria

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Authors: Ipek Sensu

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Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

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Authors: Zakieh Piri, Shahla Damanabi, Peyman Rezaii Hachesoo

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Introduction: Healthcare organizations like other organizations suffer from a number of disorders such as Business Sponsor Disorder, Business Acceptance Disorder, Cultural/Political Disorder, Data Disorder, etc. As quality in healthcare care mostly depends on the quality of data, we aimed to identify data disorders and its symptoms in two teaching hospitals. Methods: Using a self-constructed questionnaire, we asked 20 questions in related to quality and usability of patient data stored in patient records. Research population consisted of 150 managers, physicians, nurses, medical record staff who were working at the time of study. We also asked their views about the symptoms and treatments for any data disorders they mentioned in the questionnaire. Using qualitative methods we analyzed the answers. Results: After classifying the answers, we found six main data disorders: incomplete data, missed data, late data, blurred data, manipulated data, illegible data. The majority of participants believed in their important roles in treatment of data disorders while others believed in health system problems. Discussion: As clinicians have important roles in producing of data, they can easily identify symptoms and disorders of patient data. Health information managers can also play important roles in early detection of data disorders by proactively monitoring and periodic check-ups of data.

Keywords: data disorders, quality, healthcare, treatment

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Authors: Rakesh Dogra, Arun Kumar, Arvind Kumar Sharma

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This paper reports the thermoluminescence as well as optical properties of rare earth doped lithium fluoride (LiF) nanophosphor, synthesized via chemical route. The rare earth impurities (Yb and Sm) have been observed to increase the deep trap center capacity, which, in turn, enhance the radiation resistance of the LiF. This suggests the viability of these materials to be used as high dose thermoluminescent detectors at high temperature. Further, optical absorption measurements revealed the formation of radiation induced stable color centers in LiF at room temperature, which are independent of the rare earth dopant.

Keywords: lithium flouride, thermoluminescence, UV-VIS spectroscopy, Gamma radiations

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Authors: Alberto Hananel

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The aim of this work is to modelize the occlusion of a person with temporomandibular disorders as an evolutionary equation and approach its solution by the construction and characterizing of discrete variational splines. To formulate the problem, certain boundary conditions have been considered. After showing the existence and the uniqueness of the solution of such a problem, a convergence result of a discrete variational evolutionary spline is shown. A stress analysis of the occlusion of a human jaw with temporomandibular disorders by finite elements is carried out in FreeFem++ in order to prove the validity of the presented method.

Keywords: approximation, evolutionary PDE, Finite Element Method, temporomandibular disorders, variational spline

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Authors: B. Kahouadji, L. Guerbous, L. Lamiri, A. Mendoud

Abstract:

Recently, nanomaterials are developed in the form of nano-films, nano-crystals and nano-pores. Lanthanide phosphates as a material find extensive application as laser, ceramic, sensor, phosphor, and also in optoelectronics, medical and biological labels, solar cells and light sources. Among the different kinds of rare-earth orthophosphates, yttrium orthophosphate has been shown to be an efficient host lattice for rare earth activator ions, which have become a research focus because of their important role in the field of light display systems, lasers, and optoelectronic devices. It is in this context that the 4fn- « 4fn-1 5d transitions of rare earth in insulating materials, lying in the UV and VUV, are the aim of large number of studies .Though there has been a few reports on Eu3+, Nd3+, Pr3+,Er3+, Ce3+, Tm3+ doped YPO4. The 4fn- « 4fn-1 5d transitions of the rare earth dependent to the host-matrix, several matrices ions were used to study these transitions, in this work we are suggesting to study on a very specific class of inorganic material that are orthophosphate doped with rare earth ions. This study focused on the effect of Ce3+ concentration on the structural and optical properties of Ce3+ doped YPO4 yttrium orthophosphate with powder form prepared by the Sol Gel method.

Keywords: YPO4, Ce3+, 4fn- <->4fn-1 5d transitions, scintillator

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Authors: Badis Kahouadji, Lakhdar Guerbous, Lyes Lamiri

Abstract:

For many years, the luminescent materials were investigated principally in the infrared and visible areas, because the ultraviolet (UV) and especially in vacuum Ultraviolet (VUV) are technically more difficult to explore, especially absence of applications requiring of materials suitable to short wavelengths.Recent necessary, related to the development of certain technologies, encouraged research in these spectra domains. It is in this context that the 4Fn-4Fn-1 5d transitions of rare earth in insulating materials, lying in the UV and VUV, are the aim of large number of studies. These studies relate in particular to search for new scintillator materials used for spectroscopy and X-ray, ɤ, as well as medical imaging. The 4Fn- 4Fn-15d transitions of the rare earth dependent to the host-matrix, several matrices ions were used to study these transitions, in this work we are suggeting to study on a very specific class of inorganic scintillators that are orthophosphate doped with rare earth ions, this study focused on the Pr3+ concentration on the structural and optical properties of Pr3+ doped YPO4 (yttriumorthophosphate) with powder form prepared by the Sol Gel method.

Keywords: rare earth, scintillator, YPO4:Pr3+ nanophosphors, sol gel, 4Fn-4Fn-15d transitions

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Authors: Suliman Khan, Rabeea Siddique, Mengzhou Xue

Abstract:

Background: Patients with neurological disorders often display altered circadian rhythms. The disrupted circadian rhythms through chronic jetlag or shiftwork are thought to increase the risk and severity of human disease, including cancer, psychiatric, and related brain diseases. In this study, we investigated the impact of shiftwork or chronic jetlag (CJL) like conditions on mice’s brains. Transcriptome profiling based on RNA sequencing revealed that genes associated with serious neurological disorders were differentially expressed in the nucleus accumbens (NAc) and prefrontal cortex (PFC). According to the qPCR analysis, several key regulatory genes associated with neurological disorders were significantly altered in the NAc, PFC, hypothalamus, hippocampus, and striatum. Serotonin levels and the expression levels of serotonin transporters and receptors were significantly altered in mice treated with CJL. Overall, these results indicate that CJL may increase the risk of neurological disorders by disrupting the key regulatory genes, biological functions, serotonin, and corticosterone. These molecular linkages can further be studied to investigate the mechanism underlying CJL or shiftwork-mediated neurological disorders in order to develop treatment strategies.

Keywords: chronic jetlag, molecular profiles, brain disorders, circadian rhythms

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Authors: F. Brunke, L. Waalkes, C. Siemers

Abstract:

Due to reduced stiffness, research on second generation titanium alloys for implant applications, like the metastable β-titanium alloy Ti-15Mo, become more and more important in the recent years. The machinability of these alloys is generally poor leading to problems during implant production and comparably large production costs. Therefore, in the present study, Ti 15Mo was alloyed with 0.8 wt.-% of the rare earth metals lanthanum (Ti-15Mo+0.8La) and neodymium (Ti-15Mo+0.8Nd) to improve its machinability. Their microstructure consisted of a titanium matrix and micrometer-size particles of the rare earth metals and two of their oxides. The particles stabilized the micro structure as grain growth was minimized. As especially the ductility might be affected by the precipitates, the behavior of Ti-15Mo+0.8La and Ti-15Mo+0.8Nd was investigated during static and dynamic deformation at elevated temperature to develop a processing route. The resulting mechanical properties (static strength and ductility) were similar in all investigated alloys.

Keywords: Ti 15Mo, titanium alloys, rare earth metals, free machining alloy

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Authors: Ali Al Orf, Khawaja Bilal Waheed

Abstract:

Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: David G. Maxinez, Andrés Ferreyra Ramírez, Liliana Castillo Sánchez, Nancy Adán Mendoza, Carlos Aviles Cruz

Abstract:

This research describes the use of fuzzy logic in detection, assessment, analysis and evaluation of children with behavioral disorders. It shows how to acquire and analyze ambiguous, vague and full of uncertainty data coming from the input variables to get an accurate assessment result for each of the typologies presented by children with behavior problems. Behavior disorders analyzed in this paper are: hyperactivity (H), attention deficit with hyperactivity (DAH), conduct disorder (TD) and attention deficit (AD).

Keywords: alteration, behavior, centroid, detection, disorders, economic, fuzzy logic, hyperactivity, impulsivity, social

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