Search results for: rare disease
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4394

Search results for: rare disease

3764 Graph Neural Network-Based Classification for Disease Prediction in Health Care Heterogeneous Data Structures of Electronic Health Record

Authors: Raghavi C. Janaswamy

Abstract:

In the healthcare sector, heterogenous data elements such as patients, diagnosis, symptoms, conditions, observation text from physician notes, and prescriptions form the essentials of the Electronic Health Record (EHR). The data in the form of clear text and images are stored or processed in a relational format in most systems. However, the intrinsic structure restrictions and complex joins of relational databases limit the widespread utility. In this regard, the design and development of realistic mapping and deep connections as real-time objects offer unparallel advantages. Herein, a graph neural network-based classification of EHR data has been developed. The patient conditions have been predicted as a node classification task using a graph-based open source EHR data, Synthea Database, stored in Tigergraph. The Synthea DB dataset is leveraged due to its closer representation of the real-time data and being voluminous. The graph model is built from the EHR heterogeneous data using python modules, namely, pyTigerGraph to get nodes and edges from the Tigergraph database, PyTorch to tensorize the nodes and edges, PyTorch-Geometric (PyG) to train the Graph Neural Network (GNN) and adopt the self-supervised learning techniques with the AutoEncoders to generate the node embeddings and eventually perform the node classifications using the node embeddings. The model predicts patient conditions ranging from common to rare situations. The outcome is deemed to open up opportunities for data querying toward better predictions and accuracy.

Keywords: electronic health record, graph neural network, heterogeneous data, prediction

Procedia PDF Downloads 81
3763 Oral Health Status in Sickle Cell Anemia Subjects

Authors: Surekha Rathod

Abstract:

Sickle cell disease is a vascular disorder characterized by chronic, ongoing organ damage that is punctuated by episodes of acutely painful vascular complications.1 It is the most common genetic blood disorder in the United States, with about 2000 infants being identified through routine blood screenings annually, and an estimated 104,000-138,000 affected individuals living in the United States. Approximately 0.3%-1.3% of African American are affected by Sickle Cell Diseases (SCD).3 The aim of this paper is to present oral health status of patients with SCD. A total of 200 subjects of both sexes in the age group 18- 40 years were included in this study. The subjects were examined and the following indices were recorded • Oral hygiene index – Simplified (OHI-S). • Probing depths (PD). • Clinical Attachment Levels (CAL). • Gingival Index - Loe and Sillness. • Turesky Gillmore Glickman Modification of the Quigley Hein Plaque Index. (1970) • DMFT index. • Sickle Cell Disease Severity Index. A total of 1478 patients were screened of which 200 subjects were found to be diagnosed with SCD by electrophoresis. The study thus, included 200 subjects (111 females & 89 males) diagnosed with Sickle Cell Disease in the age group of 18-40 years. The probing pocket depths (PPD) were measured in millimeters. 36% had PPD in the range of 2-4mm, 48% had PPD in the range of 4-6mm while 16% had PPD of more than 6mm. Similar results were obtained for the Clinical Attachment Levels (CAL). 29.5 % subjects had CAL 2-4mm, 44.5% had 4-6mm & 26% had CAL 6mm & above. We can thus conclude that although oral health is not a priority for patients with SCD, it is supported by increased plaque accumulation. Because of the chronic anemic state of the patients with SCD, they should be encouraged to pay strict attention to oral hygiene instructions and practice.

Keywords: chronic, genetic, oral, sickle cell disease, vascular

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3762 A Decrease in the Anxiety Levels of Participants with Autoimmune Disease: Efficacy of a Community-Based Educational Program

Authors: Jennifer Hunter, Francisco Ramirez, Neil A. Nedley, Thania Solorio, Christian Freed, Erica Kinjo

Abstract:

People who have autoimmune disease are often at an increased risk for psychological disorders such as anxiety. Untreated psychological conditions can affect the development of disease and can affect one’s general quality of life. In this study, it was hypothesized that an educational community-based intervention would be useful in decreasing the anxiety levels of participants with autoimmune disease. Programs, 2-hours long each, were held weekly over a period of eight weeks. During every meeting, a 45-minute DVD presentation by a skilled physician was shown, a small group discussion was guided by trained facilitators, and weekly practical assignments were given to each participant. The focus of the program was to educate participants about healthy lifestyle behaviors such as exercise, nutrition, sleep hygiene, helpful thought patterns etc., and to provide a group environment in which each participant was supported. Participants were assessed pre-post program for anxiety using the Depression and Anxiety Assessment Test (registration TX 7-398-022), a validated mental health test based on DSM-5 criteria and demographics. Anxiety scores were classified according to the DSM-5 criteria into 4 categories: none (0-6), mild (7-10), moderate (11-19) or severe (20 or more). Out of the participants who participated in programs conducted in the manner explained above (n=431), the average age was 54.9 (SD 16.6) and 81.9% were female. At baseline, the mean group anxiety level was 9.4 (SD 5.4). Within the baseline group, anxiety levels were as follows: none (21.1%), mild (22.0%), moderate (27.1%) and severe (29.7%). After the program, mean group anxiety decreased to 4.7 (SD 4.0). Post-program anxiety levels were as follows: none (54.8%), mild (27.1%), moderate (12.5%), severe (5.6%). The decrease in overall anxiety levels was significant t(431)=19.3 p<.001, 95% CI [0.815, 1.041]. It was concluded that the eight-week intensive was beneficial in decreasing the anxiety levels of participants. A long-term follow-up study would be beneficial in determining how lasting such improvements are especially since autoimmune diseases are often chronic. Additionally, future studies that utilize a control group would aid in establishing whether the improvements seen are due to the use of this specific lifestyle-educational program.

Keywords: anxiety, auto-immune disease, community-based educational program, lifestyle

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3761 A Computational Investigation of Potential Drugs for Cholesterol Regulation to Treat Alzheimer’s Disease

Authors: Marina Passero, Tianhua Zhai, Zuyi (Jacky) Huang

Abstract:

Alzheimer’s disease has become a major public health issue, as indicated by the increasing populations of Americans living with Alzheimer’s disease. After decades of extensive research in Alzheimer’s disease, only seven drugs have been approved by Food and Drug Administration (FDA) to treat Alzheimer’s disease. Five of these drugs were designed to treat the dementia symptoms, and only two drugs (i.e., Aducanumab and Lecanemab) target the progression of Alzheimer’s disease, especially the accumulation of amyloid-b plaques. However, controversial comments were raised for the accelerated approvals of either Aducanumab or Lecanemab, especially with concerns on safety and side effects of these two drugs. There is still an urgent need for further drug discovery to target the biological processes involved in the progression of Alzheimer’s disease. Excessive cholesterol has been found to accumulate in the brain of those with Alzheimer’s disease. Cholesterol can be synthesized in both the blood and the brain, but the majority of biosynthesis in the adult brain takes place in astrocytes and is then transported to the neurons via ApoE. The blood brain barrier separates cholesterol metabolism in the brain from the rest of the body. Various proteins contribute to the metabolism of cholesterol in the brain, which offer potential targets for Alzheimer’s treatment. In the astrocytes, SREBP cleavage-activating protein (SCAP) binds to Sterol Regulatory Element-binding Protein 2 (SREBP2) in order to transport the complex from the endoplasmic reticulum to the Golgi apparatus. Cholesterol is secreted out of the astrocytes by ATP-Binding Cassette A1 (ABCA1) transporter. Lipoprotein receptors such as triggering receptor expressed on myeloid cells 2 (TREM2) internalize cholesterol into the microglia, while lipoprotein receptors such as Low-density lipoprotein receptor-related protein 1 (LRP1) internalize cholesterol into the neuron. Cytochrome P450 Family 46 Subfamily A Member 1 (CYP46A1) converts excess cholesterol to 24S-hydroxycholesterol (24S-OHC). Cholesterol has been approved for its direct effect on the production of amyloid-beta and tau proteins. The addition of cholesterol to the brain promotes the activity of beta-site amyloid precursor protein cleaving enzyme 1 (BACE1), secretase, and amyloid precursor protein (APP), which all aid in amyloid-beta production. The reduction of cholesterol esters in the brain have been found to reduce phosphorylated tau levels in mice. In this work, a computational pipeline was developed to identify the protein targets involved in cholesterol regulation in brain and further to identify chemical compounds as the inhibitors of a selected protein target. Since extensive evidence shows the strong correlation between brain cholesterol regulation and Alzheimer’s disease, a detailed literature review on genes or pathways related to the brain cholesterol synthesis and regulation was first conducted in this work. An interaction network was then built for those genes so that the top gene targets were identified. The involvement of these genes in Alzheimer’s disease progression was discussed, which was followed by the investigation of existing clinical trials for those targets. A ligand-protein docking program was finally developed to screen 1.5 million chemical compounds for the selected protein target. A machine learning program was developed to evaluate and predict the binding interaction between chemical compounds and the protein target. The results from this work pave the way for further drug discovery to regulate brain cholesterol to combat Alzheimer’s disease.

Keywords: Alzheimer’s disease, drug discovery, ligand-protein docking, gene-network analysis, cholesterol regulation

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3760 GABARAPL1 (GEC1) mRNA Expression Levels in Patients with Alzheimer's Disease

Authors: Ali Bayram, Burak Uz, Ilhan Dolasik, Remzi Yiğiter

Abstract:

The GABARAP (GABAA-receptor-associated protein) family consists of GABARAP, GABARAPL1 (GABARAP-like 1) and GABARAPL2 (GABARAP-like 2). GABARAPL1, like GABARAP, was described to interact with both GABAA receptor and tubulin, and to be involved in intracellular GABAA receptor trafficking and promoting tubulin polymerization. In addition, GABARAPL1 is thought to be involved in various physiological (autophagosome closure, regulation of circadian rhythms) and/or pathological mechanisms (cancer, neurodegeneration). Alzheimer’s disease (AD) is a progressive neuro degenerative disorder characterized with impaired cognitive functions. Disruption of the GABAergic neuro transmission as well as cholinergic and glutamatergic interactions, may also be involved in the pathogenesis of AD. GABARAPL1 presents a regulated tissue expression and is the most expressed gene among the GABARAP family members in the central nervous system. We, herein, conducted a study to investigate the GABARAPL1 mRNA expression levels in patients with AD. 50 patients with AD and 49 control patients were enrolled to the present study. Messenger RNA expression levels of GABARAPL1 were detected by real-time polymerase chain reaction. GABARAPL1 mRNA expression in AD / control patients was 0,495 (95% confidence interval: 0,404-0,607), p= 0,00000002646. Reduced activity of GABARAPL1 gene might play a role, at least partly, in the pathophysiology of AD.

Keywords: Alzheimer’s disease, GABARAPL1, mRNA expression, RT-PCR

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3759 In vitro Control of Mycosphaerella arachidis Deighton the Early Leaf Spot Disease Pathogen of Groundnut by the Extracts from Six Medicinal Plants

Authors: Matthew Omoniyi Adebola, Jude E Amadi

Abstract:

Ground nut (Arachis hypogaea) is one of the most popular commercial crops in Nigeria. Its suc-cessful production has been drastically affected by early leaf spot disease caused by Mycosphae-rella arachidis Deighton. In vitro control of the pathogen by six medicinal plants (Entada afri-cana, Vitex doniana, Lawsonia inermis, Azadirachta indica, Acalypha hispida and Nuaclea lati-folia) was assessed in this study. The extracts of the plants were prepared using cold and hot wa-ter and alcohol. The pathogen was isolated from ground nut infected with early leaf spot disease. The results revealed a great significant difference (P<0.05) in yield of extracts between cold water, hot water, and alcohol extracts. A significant difference (P<0.05) was observed in percentage concentrations of the various phytochemical constituents present in the extracts. Flavonoids per-centage concentration was the highest (0.68 - 1.95%) followed by saponnin(0.09-1.53%) in N. latifolia extracts. Steroiods had the least percentage concentrations (0.00- 0.09%)followed by terpenoids(0.02–0.71%) and proanthocyannin (0.05 – 0.86%). N. latifolia extracts produced the highest percentage concentrations (0.07–1.95%) of all the phytochemicals followed by A. indi-ca(0.05–1.64%)and least concentrations were obtained in A. hispidia(0.09 – 0.87%)and V. do-niana (0.00–0.88%). The extracts inhibited spore germination and growth of M. arachidis. The inhibition by alcohol extracts was high and significantly different (P>0.05) from cold and hot water extracts. Alcohol extract of L. inermis gave 100% spore germination inhibition followed by N. latifolia and A.indica with 97.75% and 85.60% inhibition respectively. Therefore, field trials of these six medicinal plants on the control of early leaf spot disease of ground nut are rec-ommended.

Keywords: groundnut, phytochemicals, medicinal plants, extracts, inhibition

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3758 A Reminder of a Rare Anatomical Variant of the Spinal Accessory Nerve Encountered During Routine Neck Dissection: A Case Report and Updated Review of the Literature

Authors: Sophie Mills, Constantinos Aristotelous, Leila L. Touil, Richard C. W. James

Abstract:

Objectives: Historical studies of the anatomy of the spinal accessory nerve (SAN) have reported conflicting results regarding its relationship with the internal jugular vein (IJV). A literature review was undertaken to establish the prevalence of anatomical variations of the SAN encountered during routine neck dissection surgery in order to increase awareness and reduce morbidity associated with iatrogenic SAN injury. Materials and Methods: The largest systematic review to date was performed using PRISMA-ScR guidelines, which yielded nine articles following the application of inclusion and exclusion criteria. A case report is also included, which demonstrates the rare anatomical relationship of the SAN traversing a fenestrated IJV, seen for the first time in the senior author’s career. Results: The mean number of dissections per study was 119, of which 55.6% (n=5) studies were performed on cadaver subjects, and 44.4% (n=4) were surgical dissections. Incidences of the SAN lateral to the IJV and medial to the IJV ranged from 38.9%-95.7% and 2.8%-57.4%, respectively. Over half of the studies reported incidences of the SAN traversing the IJV in 0.9%-2.8% of dissections. One study reported an isolated variant of the SAN dividing around the IJV with a prevalence of 0.5%. Conclusion: At the level of the posterior belly of the digastric muscle, the surgeon can anticipate the identification of the SAN lateral to the IJV in approximately three-quarters of cases, whilst around one-quarter are estimated to be medial. A mean of 1.6% of SANs traverses a fenestration of the vein. It is essential for surgeons to be aware of these anatomical variations and their prevalence to prevent injury to vital structures during surgery.

Keywords: anatomical variant, internal jugular vein, neck dissection, spinal accessory nerve

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3757 Preparation of Nano-Scaled linbo3 by Polyol Method

Authors: Gabriella Dravecz, László Péter, Zsolt Kis

Abstract:

Abstract— The growth of optical LiNbO3 single crystal and its physical and chemical properties are well known on the macroscopic scale. Nowadays the rare-earth doped single crystals became important for coherent quantum optical experiments: electromagnetically induced transparency, slow down of light pulses, coherent quantum memory. The expansion of applications is increasingly requiring the production of nano scaled LiNbO3 particles. For example, rare-earth doped nanoscaled particles of lithium niobate can be act like single photon source which can be the bases of a coding system of the quantum computer providing complete inaccessibility to strangers. The polyol method is a chemical synthesis where oxide formation occurs instead of hydroxide because of the high temperature. Moreover the polyol medium limits the growth and agglomeration of the grains producing particles with the diameter of 30-200 nm. In this work nano scaled LiNbO3 was prepared by the polyol method. The starting materials (niobium oxalate and LiOH) were diluted in H2O2. Then it was suspended in ethylene glycol and heated up to about the boiling point of the mixture with intensive stirring. After the thermal equilibrium was reached, the mixture was kept in this temperature for 4 hours. The suspension was cooled overnight. The mixture was centrifuged and the particles were filtered. Dynamic Light Scattering (DLS) measurement was carried out and the size of the particles were found to be 80-100 nms. This was confirmed by Scanning Electron Microscope (SEM) investigations. The element analysis of SEM showed large amount of Nb in the sample. The production of LiNbO3 nano particles were succesful by the polyol method. The agglomeration of the particles were avoided and the size of 80-100nm could be reached.

Keywords: lithium-niobate, nanoparticles, polyol, SEM

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3756 Competing Interactions, and Magnetization Dynamics in Doped Rare-Earth Manganites Nanostructural System

Authors: Wiqar Hussain Shah

Abstract:

The Structural, magnetic and transport behavior of La1-xCaxMnO3+ (x=0.48, 0.50, 0.52 and 0.55 and =0.015) compositions close to charge ordering, was studied through XRD, resistivity, DC magnetization and AC susceptibility measurements. With time and thermal cycling (T<300 K) there is an irreversible transformation of the low-temperature phase from a partially ferromagnetic and metallic to one that is less ferromagnetic and highly resistive. For instance, an increase of resistivity can be observed by thermal cycling, where no effect is obtained for lower Ca concentration. The time changes in the magnetization are logarithmic in general and activation energies are consistent with those expected for electron transfer between Mn ions. The data suggest that oxygen non-stoichiometry results in mechanical strains in this two-phase system, leading to the development of irreversible metastable states, which relax towards the more stable charge-ordered and antiferromagnetic microdomains at the nano-meter size. This behavior is interpreted in terms of strains induced charge localization at the interface between FM/AFM domains in the antiferromagnetic matrix. Charge, orbital ordering and phase separation play a prominent role in the appearance of such properties, since they can be modified in a spectacular manner by external factor, making the different physical properties metastable. Here we describe two factors that deeply modify those properties, viz. the doping concentration and the thermal cycling. The metastable state is recovered by the high temperature annealing. We also measure the magnetic relaxation in the metastable state and also the revival of the metastable state (in a relaxed sample) due to high temperature (800 ) thermal treatment.

Keywords: Rare-earth maganites, nano-structural materials, doping effects on electrical, magnetic properties, competing interactions

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3755 Role of Pro-Inflammatory and Regulatory Cytokines in Pathogenesis of Graves’ Disease in Association with Autoantibody Thyroid and Regulatory FoxP3 T-Cells

Authors: Dwitya Elvira, Eryati Darwin

Abstract:

Background: Graves’ disease (GD) is an autoimmune thyroid disease. Imbalance of Th1/Th2 cells and T-regulatory (Treg)/Th17 cells was thought to play pivotal role in the pathogenesis of GD. Treg FoxP3 produced TGF-β to maintain regulatory function, and Th17 cells produced IL-17 as cytokines that were thought in mediating several autoimmune diseases. The aim of this study is to assess the role of IL-17 and TGF-β in the pathogenesis of GD and to investigate its correlation with Thyroid Stimulating Hormone Receptor Antibody (TRAb) and Treg FoxP3 expression. Method: 30 GD patients and 27 age and sex-matched controls were enrolled in this study. Diagnosis of GD was based on clinical and biochemical of GD. Serum IL-17, TGF-β, TRAb, and FoxP3 were measured by enzyme-linked immunosorbent assay (ELISA). Data were analyzed by using SPSS 21.0 (SPSS Inc.). Spearman rank correlation test was used for assessment of correlation. The statistical significance was accepted as P<0.05. Result: There was no significant correlation between IL-17 and TGF-β serum with expression of FoxP3 level in GD, but there was significant correlation between TGF-β and TRAb serum level (P<0.05). Serum levels of IL-17 and TGF-β were found to be elevated in patient group compared to control, where mean values of IL-17 were 14.43±2.15 pg/mL and TGF-β were 10.44±3.19 pg/mL in patients group; and in control group, level of IL-17 were 7.1±1.45 pg/mL and TGF-β were 4.95±1.35 pg/mL. Conclusion: Serum Il-17 and TGF-β were elevated in GD patients that reflect the role of inflammatory and regulatory cytokines activation in pathogenesis of GD. There was significant correlation between TGF-β and TRAb, revealing that Treg cytokines may play a role in pathogenesis of GD.

Keywords: IL-17, TGF-B, FoxP3, TRAb, Graves’ disease

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3754 Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson’s Disease Patients

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

Abstract:

Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

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3753 Frequency of Gastrointestinal Manifestations in Systemic Sclerosis and Impact of Rituximab Treatment

Authors: Liudmila Garzanova, Lidia Ananyeva, Olga Koneva, Olga Ovsyannikova, Oxana Desinova, Mayya Starovoytova, Rushana Shayahmetova

Abstract:

Objectives. Gastrointestinal involvement is one of the most common manifestations of systemic sclerosis (SSc). The aim of our study was to assess the frequency of gastrointestinal manifestations in SSc patients (pts) with interstitial lung disease (ILD) and their changes to rituximab (RTX) therapy. Methods. There were 103 pts with SSc in this study. The mean follow-up period was 12.6±10.7 months. The mean age was 47±12.9 years, females - 87 pts (84%), and the diffuse cutaneous subset of the disease 55 pts (53%). The mean disease duration was 6.2±5.5 years. All pts had ILD and were positive for ANA. 67% of them were positive for anti-topoisomerase-1. All patients received prednisolone at a dose of 11.3±4.5 mg/day, and immunosuppressants at inclusion received 47% of them. Pts received RTX due to the ineffectiveness of previous therapy for ILD. The cumulative mean dose of RTX was 1.7±0.6 grams. 90% of pts received omeprazole at a dose of 20-40 mg/day. Results. At inclusion, dysphagia was observed in 76 pts (74%), early satiety or vomiting in 32 pts (31%), and diarrhea in 20 pts (19%). We didn't observe any changes in gastrointestinal manifestation during RTX therapy. There was a decrease in the number of pts with dysphagia from 76 (74%) to 66 (64%), but it was insignificant. The number of pts with early satiety or vomiting and diarrhea didn't change. Conclusion. In our study, gastrointestinal involvement was observed in most of the pts with SSc-ILD. We didn't find any significant changes in gastrointestinal manifestations during RTX therapy. RXT does not worsen gastrointestinal manifestations in SSc-ILD.

Keywords: systemic sclerosis, dysphagia, rituximab, gastrointestinal manifestations

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3752 Identification of Disease Causing DNA Motifs in Human DNA Using Clustering Approach

Authors: G. Tamilpavai, C. Vishnuppriya

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Studying DNA (deoxyribonucleic acid) sequence is useful in biological processes and it is applied in the fields such as diagnostic and forensic research. DNA is the hereditary information in human and almost all other organisms. It is passed to their generations. Earlier stage detection of defective DNA sequence may lead to many developments in the field of Bioinformatics. Nowadays various tedious techniques are used to identify defective DNA. The proposed work is to analyze and identify the cancer-causing DNA motif in a given sequence. Initially the human DNA sequence is separated as k-mers using k-mer separation rule. The separated k-mers are clustered using Self Organizing Map (SOM). Using Levenshtein distance measure, cancer associated DNA motif is identified from the k-mer clusters. Experimental results of this work indicate the presence or absence of cancer causing DNA motif. If the cancer associated DNA motif is found in DNA, it is declared as the cancer disease causing DNA sequence. Otherwise the input human DNA is declared as normal sequence. Finally, elapsed time is calculated for finding the presence of cancer causing DNA motif using clustering formation. It is compared with normal process of finding cancer causing DNA motif. Locating cancer associated motif is easier in cluster formation process than the other one. The proposed work will be an initiative aid for finding genetic disease related research.

Keywords: bioinformatics, cancer motif, DNA, k-mers, Levenshtein distance, SOM

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3751 The Effect of SIAH1 on PINK1 Homeostasis in Parkinson Disease

Authors: Fatimah Abd Elghani, Raymonde Szargel, Vered Shani, Hazem Safory, Haya Hamza, Mor Savyon, Ruth Rott, Rina Bandopadhyay, Simone Engelender

Abstract:

Background: PINK1 is a mitochondrial kinase mutated in some familial cases of Parkinson’s disease. Down regulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential. Although PINK1 has a predicted mitochondrial import sequence, it’s cellular, and submitochondrial localization remains unclear, in part because it is rapidly degraded. In this work, we investigated the mechanisms involved in PINK1 degradation and how this may affect PINK1 stability and function, with implications for mitochondrial function in PD. In addition, pharmacological inhibition of proteasome activity was shown to lead to PINK1 accumulation, indicating that PINK1 degradation depends on the ubiquitin-proteasome system (UPS). Methods: Using co-immunoprecipitation assays, we identified E3 ubiquitin ligase SIAH1 as a PINK1-interacting protein in HEK293 cells as well as on rat brain tissues. In addition, we determined the effect of SIAH 1, SIAH2 and Parkin on PINK1 steady-state levels by Western blot analysis, and checked their possibility to ubiquitinate and mediate PINK1 degradation through the proteasome carried out in vivo ubiquitination experiments. Results: We have obtained results showing that SIAH-1 interacts with and ubiquitinates PINK1. The ubiquitination promoted by SIAH-1 leads to the proteasomal degradation of PINK1. We confirmed these findings by knocking down SIAH-1 and observing important accumulation of PINK1 in cells. Besides, we found that SIAH-1 decreases PINK1 steady-state levels but not the E3 ligase Parkin. We also investigated the interaction of SIAH-1 with PINK1 disease mutants and its ability to promote their ubiquitination and degradation. Although, no clear difference in the ability of SIAH-1 to promote the degradation of PINK1 disease mutants was observed. It is possible that dysfunction of proteasomal activity in the disease may lead to the accumulation and aggregation of ubiquitinated PINK1 in patients with PINK1 mutations, with possible implications to the pathogenesis of PD. Conclusions: Here, we demonstrated that SIAH-1 ubiquitinates and promotes the degradation of PINK1. In addition, SIAH-1 represents now a target that may help the improvement of mitophagy in PD. Further investigations needed to understand how mitophagy is regulated by PINK1-SIAH-1 axis to provide targets for future therapeutics.

Keywords: PD, Parkinson's disease, PINK1, PTEN-induced kinase1, SIAH, seven in absentia homolog, SN, substantia nigra

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3750 Quality of Life of Patients on Oral Anticoagulant Therapy in Outpatient Cardiac Department Dr. Hasan Sadikin Central General Hospital Bandung

Authors: Mochammad Indra Permana, Andhiani Sharfina Arnellya, Dika Pramita Destiani, Budhi Prihartanto

Abstract:

Cardiovascular disease is the cause of the highest mortality rates in the world. The number of cardiovascular disease patients is increasing every year. Data obtained from World Health Organization (WHO) that 17,5 million people died from this disease. The condition of cardiovascular diseases such as atrial fibrillation, myocardial infarction, venous thromboembolism, and several other conditions need anticoagulant therapy. Results of the anticoagulant therapy are measured not only by the effectiveness of International Normalized Ratio (INR) value but also by the quality of life of the patients. The purpose of this study was to determine the quality of life of patients on oral anticoagulant therapy in outpatient cardiac department Dr. Hasan Sadikin central general hospital, Bandung, Indonesia. This is a cross-sectional study with collecting data from the quality of life questionnaire and medical record of the patients. The results of this study showed that 28 patients (46,7%) had a good quality of life, 30 patients (50%) had a moderate quality of life, and 2 patients (3,3%) had a poor quality of life with no significant differences in quality of life based on age, gender, diagnosis, and duration of drug use.

Keywords: anticoagulant, cardiovascular diseases, INR, quality of life

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3749 Qualitative Risk Assessment of Rift Valley Fever Vaccine Production

Authors: Mohammed E. Mansour, Tamador M. A. Elhassan, Nahid A. Ibrahim, Awatif A. Ahmed, Manal A. Abdalla

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Rift valley fever (RVF) is mosquito-borne disease. RVF is transboundary zoonotic disease. It has socioeconomic and public health importance. This paper describes qualitative risk of the RVF vaccine production. RVF is endemic in the Sudan. It has been reported in Sudan due to abundance of Ades Eqytie. Thus, there is huge effort to control it. Vaccination practices had significant role to control and manage RVF. The risk assessment explains the likelihood of a risk as likely. Thus, insecticides and repellents synergize the effort of the vaccination.

Keywords: qualitative analysis, risk assessment, rift valley fever vaccine, quality control

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3748 Why is the Recurrence Rate of Residual or Recurrent Disease Following Endoscopic Mucosal Resection (EMR) of the Oesophageal Dysplasia’s and T1 Tumours Higher in the Greater Midlands Cancer Network?

Authors: Harshadkumar Rajgor, Jeff Butterworth

Abstract:

Background: Barretts oesophagus increases the risk of developing oesophageal adenocarcinoma. Over the last 40 years, there has been a 6 fold increase in the incidence of oesophageal adenocarcinoma in the western world and the incidence rates are increasing at a greater rate than cancers of the colon, breast and lung. Endoscopic mucosal resection (EMR) is a relatively new technique being used by 2 centres in the greater midlands cancer network. EMR can be used for curative or staging purposes, for high-grade dysplasia’s and T1 tumours of the oesophagus. EMR is also suitable for those who are deemed high risk for oesophagectomy. EMR has a recurrence rate of 21% according to the Wiesbaden data. Method: A retrospective study of prospectively collected data was carried out involving 24 patients who had EMR for curative or staging purposes. Complications of residual or recurrent disease following EMR that required further treatment were investigated. Results: In 54% of cases residual or recurrent disease was suspected. 96% of patients were given clear and concise information regarding their diagnosis of high-grade dysplasia or T1 tumours. All 24 patients consulted the same specialist healthcare team. Conclusion: EMR is a safe and effective treatment for patients who have high-grade dysplasia and T1NO tumours. In 54% of cases residual or recurrent disease was suspected. Initially, only single resections were undertaken. Multiple resections are now being carried out to reduce the risk of recurrence. Complications from EMR remain low in this series and consisted of a single episode of post procedural bleeding.

Keywords: endoscopic mucosal resection, oesophageal dysplasia, T1 tumours, cancer network

Procedia PDF Downloads 313
3747 The Association Between COL4A3 Variant RS55703767 With the Susceptibility to Diabetic Kidney Disease in Patients with Type 2 Diabetes Mellitus: Results from the Cohort Study

Authors: Zi-Han Li, Zi-Jun Sun, Dong-Yuan Chang, Li Zhu, Min Chen, Ming-Hui Zhao

Abstract:

Aims: A genome-wide association study (GWAS) reported that patients with the rs55703767 minor allele in collagen type IV α3 chain encoding gene COL4A3 showed protection against diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). However, the role of rs55703767 in type 2 DKD has not been elucidated. The aim of the current study was to investigate the association between COL4A3 variant rs55703767 and DKD risk in Chinese patients with type 2 diabetes mellitus (T2DM). Methods: This nested case-control study was performed on 1311 patients who had T2DM for at least 10 years, including 580 with DKD and 731 without DKD. We detected the genotypes of all patients by TaqMan SNP Genotyping Assay and analyzed the association between COL4A3 variant rs55703767 and DKD risk. Results: Genetic analysis revealed that there was no significant difference between T2DM patients with DKD and those without DKD regarding allele or genotype frequencies of rs55703767, and the effect of this variant was not hyperglycemia specific. Conclusion: Our findings suggested that there was no detectable association between the COL4A3 variant rs55703767 and the susceptibility to DKD in the Chinese T2DM population.

Keywords: collagen type IV α3 chain, gene polymorphism, type 2 diabetes, diabetic kidney disease

Procedia PDF Downloads 101
3746 Experiences of Patients Living with Peritoneal Dialysis: A Qualitative Study

Authors: Xuzhen Yang, Yan Shan, Yabo Ding, Keke DIao, Yanjun Zhang, Yijia Huang

Abstract:

Purpose: Our aim is to understand the unique experiences of patients with peritoneal dialysis and how they deal with issues brought on by disease and dialysis. Patients and Methods: Semi-structured interview was designed to collect information, and inpatients with peritoneal dialysis in a university-based tertiary hospital in the central province of China were purposively chosen as interviewees. The content analysis method was used to analyze the data. Results: Nine patients participated in the study, and three themes and eight subthemes were generated. Conclusion: Patients using peritoneal dialysis encounter numerous challenges and problems in the process of disease and dialysis, and they took attempt to cope with them well to adapt to living with peritoneal dialysis.

Keywords: peritoneal dialysis, experience, patient, coping strategy

Procedia PDF Downloads 88
3745 The Incidence of Postoperative Atrial Fibrillation after Coronary Artery Bypass Grafting in Patients with Local and Diffuse Coronary Artery Disease

Authors: Kamil Ganaev, Elina Vlasova, Andrei Shiryaev, Renat Akchurin

Abstract:

De novo atrial fibrillation (AF) after coronary artery bypass grafting (CABG) is a common complication. To date, there are no data on the possible effect of diffuse lesions of coronary arteries on the incidence of postoperative AF complications. Methods. Patients operated on-pump under hypothermic conditions during the calendar year (2020) were studied. Inclusion criteria - isolated CABG and achievement of complete myocardial revascularization. Patients with a history of AF moderate and severe valve dysfunction, hormonal thyroid pathology, initial CHF(Congestive heart failure), as well as patients with developed perioperative complications (IM, acute heart failure, massive blood loss) and deceased were excluded. Thus 227 patients were included; mean age 65±9 years; 69% were men. 89% of patients had a 3-vessel lesion of the coronary artery; the remainder had a 2-vessel lesion. Mean LV size: 3.9±0.3 cm, indexed LV volume: 29.4±5.3 mL/m2. Two groups were considered: D (n=98), patients with diffuse coronary heart disease, and L (n=129), patients with local coronary heart disease. Clinical and demographic characteristics in the groups were comparable. Rhythm assessment: continuous bedside ECG monitoring up to 5 days; ECG CT at 5-7 days after CABG; daily routine ECG registration. Follow-up period - postoperative hospital period. Results. The Median follow-up period was 9 (7;11) days. POFP (Postoperative atrial fibrillation) was detected in 61/227 (27%) patients: 34/98 (35%) in group D versus 27/129 (21%) in group L; p<0.05. Moreover, the values of revascularization index in groups D and L (3.9±0.7 and 3.8±0.5, respectively) were equal, and the mean time Cardiopulmonary bypass (CPB) (107±27 and 80±13min), as well as the mean ischemic time (67±17 and 55±11min) were significantly longer in group D (p<0.05). However, a separate analysis of these parameters in patients with and without developed AF did not reveal any significant differences in group D (CPB time 99±21.2 min, ischemic time 63±12.2 min), or in group L (CPB time 88±13.1 min, ischemic time 58.7±13.2 min). Conclusion. With the diffuse nature of coronary lesions, the incidence of AF in the hospital period after isolated CABG definitely increases. To better understand the role of severe coronary atherosclerosis in the development of POAF, it is necessary to distinguish the influence of organic features of atrial and ventricular myocardium (as a consequence of chronic coronary disease) from the features of surgical correction in diffuse coronary lesions.

Keywords: atrial fibrillation, diffuse coronary artery disease, coronary artery bypass grafting, local coronary artery disease

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3744 Uterine Torsion: A Rare Differential Diagnosis for Acute Abdominal Pain in Pregnancy

Authors: Tin Yee Ling, Kavita Maravar, Ruzica Ardalic

Abstract:

Background: Uterine torsion (UT) in pregnancy of more than 45-degree along the longitudinal axis is a rare occurrence, and the aetiology remains unclear. Case: A 34-year-old G2P1 woman with a history of one previous caesarean section presented at 36+2 weeks with sudden onset lower abdominal pain, syncopal episode, and tender abdomen on examination. She was otherwise haemodynamically stable. Cardiotocography showed a pathological trace with initial prolonged bradycardia followed by a subsequent tachycardia with reduced variability. An initial diagnosis of uterine dehiscence was made, given the history and clinical presentation. She underwent an emergency caesarean section which revealed a 180-degree UT along the longitudinal axis, with oedematous left round ligament lying transverse anterior to the uterus and a segment of large bowel inferior to the round ligament. Detorsion of uterus was performed prior to delivery of the foetus, and anterior uterine wall was intact with no signs of rupture. There were no anatomical uterine abnormalities found other than stretched left ovarian and round ligaments, which were repaired. Delivery was otherwise uneventful, and she was discharged on day 2 postpartum. Discussion: UT is rare as the number of reported cases is within the few hundreds worldwide. Generally, the uterus is supported in place by uterine ligaments, which limit the mobility of the structure. The causes of UT are unknown, but risk factors such as uterine abnormalities, increased uterine ligaments’ flexibility in pregnancy, and foetal malposition has been identified. UT causes occlusion of uterine vessels, which can lead to ischaemic injury of the placenta causing premature separation of the placenta, preterm labour, and foetal morbidity and mortality if delivery is delayed. Diagnosing UT clinically is difficult as most women present with symptoms similar to placenta abruption or uterine rupture (abdominal pain, vaginal bleeding, shock), and one-third are asymptomatic. The management of UT involves surgical detorsion of the uterus and delivery of foetus via caesarean section. Extra vigilance should be taken to identify the anatomy of the uterus experiencing torsion prior to hysterotomy. There have been a few cases reported with hysterotomy on posterior uterine wall for delivery of foetus as it may be difficult to identify and reverse a gravid UT when foetal well-being is at stake. Conclusion: UT should be considered a differential diagnosis of acute abdominal pain in pregnancy. It is crucial that the torsion is addressed immediately as it is associated with maternal and foetal morbidity and mortality.

Keywords: uterine torsion, pregnancy complication, abdominal pain, torted uterus

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3743 Adenoid Cystic Carcinoma of the Lacrimal Gland (About a Case)

Authors: H. Hadjeris, R. B. Ghoul, Lekhlaf, M. Nebbal

Abstract:

Introduction: Adenoid cystic carcinomas of the lacrimal gland or orbital cylindroma constitute the second cause of epithelial tumors of this gland. It is a malignant tumor usually developed at the expense of the salivary glands; its orbital location is exceptional. It is a rare clinical entity, formidable by its malignancy and local aggressiveness; the recurrence rate is high. Materials and methods: Clinical case: 63 years old woman who presents with irreducible no pulsatile painful left exophthalmos with inflammatory chemosis and a decrease in visual acuity with a moderate intracranial hypertension syndrome that has been evolving for 03 months. Antecedent; a biopsy of the tumor was made; the histological examination was in favor of an adenoid cystic carcinoma of the lacrimal gland. Lesion assessment: computed tomography and brain MRI: show an intra and extra-conical mass; with sinus (ethmoido-frontal) and cerebral (left frontal) extension strongly enhanced after injection of contrast product surrounded by edema around the lesion, associated with left frontal bone lysis extension assessment: unremarkable treatment: Patient operated by left frontotemporal approach, a total exenteration was performed with macroscopically complete excision of the frontal lesion and wide frontal craniectomy with craniofacial reconstruction, followed by complementary radiotherapy. Results: The patient was seen again after 3 months in consultation; she does not present any signs in favor of a recurrence. Conclusion: Adenoid cystic carcinomas of the lacrimal gland are rare malignant tumors; they are very infiltrating and invasive. The prognosis is strongly linked to the treatment time.

Keywords: adenoid cystic, lacrimal gland, orbital location, fronto-temporal approac

Procedia PDF Downloads 67
3742 Comparing Image Processing and AI Techniques for Disease Detection in Plants

Authors: Luiz Daniel Garay Trindade, Antonio De Freitas Valle Neto, Fabio Paulo Basso, Elder De Macedo Rodrigues, Maicon Bernardino, Daniel Welfer, Daniel Muller

Abstract:

Agriculture plays an important role in society since it is one of the main sources of food in the world. To help the production and yield of crops, precision agriculture makes use of technologies aiming at improving productivity and quality of agricultural commodities. One of the problems hampering quality of agricultural production is the disease affecting crops. Failure in detecting diseases in a short period of time can result in small or big damages to production, causing financial losses to farmers. In order to provide a map of the contributions destined to the early detection of plant diseases and a comparison of the accuracy of the selected studies, a systematic literature review of the literature was performed, showing techniques for digital image processing and neural networks. We found 35 interesting tool support alternatives to detect disease in 19 plants. Our comparison of these studies resulted in an overall average accuracy of 87.45%, with two studies very closer to obtain 100%.

Keywords: pattern recognition, image processing, deep learning, precision agriculture, smart farming, agricultural automation

Procedia PDF Downloads 370
3741 Infection Control Drill: To Assess the Readiness and Preparedness of Staffs in Managing Suspected Ebola Patients in Tan Tock Seng Hospital Emergency Department

Authors: Le Jiang, Chua Jinxing

Abstract:

Introduction: The recent outbreak of Ebola virus disease in the west Africa has drawn global concern. With a high fatality rate and direct human-to-human transmission, it has spread between countries and caused great damages for patients and family who are affected. Being the designated hospital to manage epidemic outbreak in Singapore, Tan Tock Seng Hospital (TTSH) is facing great challenges in preparation and managing of potential outbreak of emerging infectious disease such as Ebola virus disease. Aim: We conducted an infection control drill in TTSH emergency department to assess the readiness of healthcare and allied health workers in managing suspected Ebola patients. It also helps to review current Ebola clinical protocol and work instruction to ensure more smooth and safe practice in managing Ebola patients in TTSH emergency department. Result: General preparedness level of staffs involved in managing Ebola virus disease in TTSH emergency department is not adequate. Knowledge deficits of staffs on Ebola personal protective equipment gowning and degowning process increase the risk of potential cross contamination in patient care. Loopholes are also found in current clinical protocol, such as unclear instructions and inaccurate information, which need to be revised to promote better staff performance in patient management. Logistic issues such as equipment dysfunction and inadequate supplies can lead to ineffective communication among teams and causing harm to patients in emergency situation. Conclusion: The infection control drill identified the need for more well-structured and clear clinical protocols to be in place to promote participants performance. In addition to quality protocols and guidelines, systemic training and annual refresher for all staffs in the emergency department are essential to prepare staffs for the outbreak of Ebola virus disease. Collaboration and communication with allied health staffs are also crucial for smooth delivery of patient care and minimising the potential human suffering, properties loss or injuries caused by disease. Therefore, more clinical drills with collaboration among various departments involved are recommended to be conducted in the future to monitor and assess readiness of TTSH emergency department in managing Ebola virus disease.

Keywords: ebola, emergency department, infection control drill, Tan Tock Seng Hospital

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3740 Maternal-Fetal Outcome in Pregnant Women with Ebola Virus Disease: A Systematic Review

Authors: Garba Iliyasu, Lamaran Dattijo

Abstract:

Introduction: Ebola virus disease (EVD) is a disease of humans and other primates caused by Ebola viruses. The most widespread epidemic of EVD in history occurred recently in several West African countries. The burden and outcome of EVD in pregnant women remains uncertain. There are very few studies to date reporting on maternal and fetal outcomes among pregnant women with EVD, hence the justification for this comprehensive review of these published studies. Methods: Published studies in English that reported on maternal and or fetal outcome among pregnant women with EVD up to May 2016 were searched in electronic databases (Google Scholar, Medline, Embase, PubMed, AJOL, and Scopus). Studies that did not satisfy the inclusion criteria were excluded. We extracted the following variables from each study: geographical location, year of the study, settings of the study, participants, maternal and fetal outcome.Result: There were 12 studies that reported on 108 pregnant women and 110 fetal outcomes. Six of the studies were case reports, 3 retrospective studies, 2 cross-sectional studies and 1 was a technical report. There were 91(84.3%) deaths out of the 108 pregnant women, while only 1(0.9%) fetal survival was reported out of 110. Survival rate among the 15 patients that had spontaneous abortion/stillbirth or induced delivery was 100%. Conclusion: There was a poor maternal and fetal outcome among pregnant women with EVD, and fetal evacuation significantly improves maternal survival.

Keywords: Africa, ebola, maternofetal, outcome

Procedia PDF Downloads 260
3739 Bone Mineralization in Children with Wilson’s Disease

Authors: Shiamaa Eltantawy, Gihan Sobhy, Alif Alaam

Abstract:

Wilson disease, or hepatolenticular degeneration, is an autosomal recessive disease that results in excess copper buildup in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems. Musculoskeletal abnormalities, including premature osteoarthritis, skeletal deformity, and pathological bone fractures, can occasionally be found in WD patients with a hepatic or neurologic type. The aim was to assess the prevalence of osteoporosis and osteopenia in Wilson’s disease patients. This case-control study was conducted on ninety children recruited from the inpatient ward and outpatient clinic of the Paediatric Hepatology, Gastroenterology, and Nutrition department of the National Liver Institute at Menofia University, aged from 1 to 18 years. Males were 49, and females were 41. Children were divided into three groups: (Group I) consisted of thirty patients with WD; (Group II) consisted of thirty patients with chronic liver disease other than WD; (Group III) consisted of thirty age- and sex-matched healthy The exclusion criteria were patients with hyperparathyroidism, hyperthyroidism, renal failure, Cushing's syndrome, and patients on certain drugs such as chemotherapy, anticonvulsants, or steroids. All patients were subjected to the following: 1- Full history-taking and clinical examination. 2-Laboratory investigations: (FBC,ALT,AST,serum albumin, total protein, total serum bilirubin,direct bilirubin,alkaline phosphatase, prothrombin time, serum critine,parathyroid hormone, serum calcium, serum phosphrus). 3-Bone mineral density (BMD, gm/cm2) values were measured by dual-energy X-ray absorptiometry (DEXA). The results revealed that there was a highly statistically significant difference between the three groups regarding the DEXA scan, and there was no statistically significant difference between groups I and II, but the WD group had the lowest bone mineral density. The WD group had a large number of cases of osteopenia and osteoporosis, but there was no statistically significant difference with the group II mean, while a high statistically significant difference was found when compared to group III. In the WD group, there were 20 patients with osteopenia, 4 patients with osteoporosis, and 6 patients who were normal. The percentages were 66.7%, 13.3%, and 20%, respectively. Therefore, the largest number of cases in the WD group had osteopenia. There was no statistically significant difference found between WD patients on different treatment regimens regarding DEXA scan results (Z-Score). There was no statistically significant difference found between patients in the WD group (normal, osteopenic, or osteoporotic) regarding phosphorus (mg/dL), but there was a highly statistically significant difference found between them regarding ionised Ca (mmol/L). Therefore, there was a decrease in bone mineral density when the Ca level was decreased. In summary, Wilson disease is associated with bone demineralization. The largest number of cases in the WD group in our study had osteopenia (66.7%). Different treatment regimens (zinc monotherapy, Artamin, and zinc) as well as different laboratory parameters have no effect on bone mineralization in WD cases. Decreased ionised Ca is associated with low BMD in WD patients. Children with WD should be investigated for BMD.

Keywords: wilson disease, Bone mineral density, liver disease, osteoporosis

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3738 Orthodontic Management of Patients with Moebius Syndrome: A Case Report

Authors: Hamna Choudhary

Abstract:

Background: This clinical case report follows the orthodontic journey of a teenage girl being treated in the Oxfordshire Community Dental Service. She presents with a rare genetic disorder – Moebius syndrome – characterised by unilateral or bilateral facial (CN VII) and abducens (CN VI) nerve palsy. This report seeks to educate Dental professionals on the impact of Moebius syndrome on Dental treatment, and how to make reasonable adjustments to make orthodontic care accessible to these patients. Methodology: Moebius syndrome is a very rare genetic disorder. Across the Oxfordshire Community Dental Service, only two patients with this condition have been identified who are undergoing orthodontic treatment. One of these patients was selected and observed, while the orthodontist (Heather Nevard) was providing orthodontic treatment with fixed appliances. The patient is undergoing treatment to correct her class II division 2 incisor relationship complicated by buccally excluded, transposed maxillary canines. Conclusions: Specific oral presentations of Moebius syndrome include microstomia, micrognathia, tongue malformation, high or cleft palate, bifid uvula and Dental malocclusion. Orthodontics plays a major role in managing and correcting many of these conditions. This emphasises the importance for Dental professionals to be informed on the condition and highlights the need for Dental input in multidisciplinary teams responsible for the care of these patients. Receiving corrective treatment has a significant impact on an individual’s quality of life. In this case, the patient felt much more confident in herself, and having aligned teeth will allow her to better maintain a healthy dentition throughout life. By understanding and educating oneself on Moebius syndrome, one is able to better cater to patient needs and make orthodontic treatment accessible.

Keywords: dentistry, facial palsy, moebius syndrome, orthodontics

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3737 Study of the Influence of Non Genetic Factors Affecting over Nutrition Students in Ayutthaya Province, Thailand

Authors: Thananyada Buapian

Abstract:

Overnutrition is emerging as a morbid disease in developing and Westernized countries. Because of its comorbidity diseases, it is cost-effective to prevent and manage this disease earlier. In Thailand, this alarming disease has long been studied, but the prevalence is still higher than that in the past. Physicians should recognize it well and have a definite direction to face and combat this dangerous disease. Rapid changes in the tremendous figure of overnutrition students indicate that genetic factors are not the primary determinants since human genes have remained unchanged for a century. This study aims to assess the prevalence of overnutrition students and to investigate the non-genetic factors affecting over nutrition students. A cross-sectional school-based survey was conducted. A two-stage sampling was adopted. Respondents included 1,850 students in grades 4 to 6 in Ayutthaya Province. An anthropometric measurement and questionnaire were developed. Childhood over nutrition was defined as a weight-for-height Z-score above +2SD of NCHS/WHO references. About thirty three percent of the children were over nutrition in Ayutthaya province. Stepwise multiple logistic regression analysis showed that 8 statistically significant non genetic factors explain the variation of childhood over nutrition by 18 percent. Sex is the prime factor to explain the variation of childhood over nutrition, followed by duration of light physical activities, duration of moderate physical activities, having been breastfed, the presence of a healthy role model of the caregiver, number of siblings, birth order, and occupation of the caregiver, respectively. Non genetic factors, especially the subjects’ demographic and physical activities, as well as the caregivers’ background and family environment, should be considered in viable approach to remedy this health imbalance in children.

Keywords: non genetic factors, non-genetic, over nutrition, over nutrition students

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3736 Metabolic Pathway Analysis of Microbes using the Artificial Bee Colony Algorithm

Authors: Serena Gomez, Raeesa Tanseen, Netra Shaligram, Nithin Francis, Sandesh B. J.

Abstract:

The human gut consists of a community of microbes which has a lot of effects on human health disease. Metabolic modeling can help to predict relative populations of stable microbes and their effect on health disease. In order to study and visualize microbes in the human gut, we developed a tool that offers the following modules: Build a tool that can be used to perform Flux Balance Analysis for microbes in the human gut using the Artificial Bee Colony optimization algorithm. Run simulations for an individual microbe in different conditions, such as aerobic and anaerobic and visualize the results of these simulations.

Keywords: microbes, metabolic modeling, flux balance analysis, artificial bee colony

Procedia PDF Downloads 93
3735 Case Report: Clinical Improvement of Forbrain Neurologic Signs in 3- Month- Old Persian Mastiff Dog with Calvarial Hyperostosis Syndrome after Corticosteroid, Antiepileptic and Antibiotic Therapy

Authors: Hamidreza Jahani, Zahra Salehzadeh, Ehsan Amini, Mohsen Tohidifar

Abstract:

Calvarial Hyperostosis Syndrome (CHS) is a benign bone disease of the skull. It is a non-neoplastic and proliferative bone disease, and the main feature of the disease is progressive and asymmetrical bone involvement. CHS is mostly reported in young male and female bullmastiff dogs and less frequently in other breeds. The etiology of CHS is unknown. This is the first case report of CHS in Iran. A 3-month-old male Persian Mastiff was presented with chief complaints of multiple episodes of seizure, pacing, bizarre behavior, delayed growth, head pressing, and difficulty in opening the mouth. Central blindness and open fontanelles were observed in clinical examination. No abnormality was found in the complete blood count and routine blood biochemical tests. CT scan findings include cortical thickening of frontal and parietal bones and enlargement of the left retropharyngeal lymph node. For treatment, oral clindamycin for two weeks, prednisolone and phenobarbital for one month, respectively, were administrated, and the case showed improvement after a week and recovered after one month.

Keywords: calvarial hyperostosis, Persian Mastiff, frontal bone, seizure

Procedia PDF Downloads 128