Search results for: multiple rare variants

Authors: Esra Öztürk, Erkul Karacaoglu

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Pyrochlores, having compounds of the general formula, A2B2O7 (A and B are metals/rare earths) are important class of materials thanks to having technological applications like in luminescence, ionic conductivity, nuclear waste immobilization etc. The rare earths included pyrochlore compounds have also potential photoluminescence characteristics. In this context, Er3+-activated Lu2Ti2O7 pyrochlore was chosen and synthesized through a high-temperature solid-state reaction route that was sintered under the open atmosphere in this study. The optimal reaction conditions to obtain expected single phase system, the thermal analysis (DTA/TG) were carried out. The X-ray powder diffraction (XRD) was used to determine phase properties of the sample. The photoluminescence (PL) results were done to obtain excitation, emission and decay time properties by a PL spectrometer under room temperature. According to the PL, there are excitation bands at 352 nm, 388 nm, 423 nm and 453 nm that are due to 4I15/2 → 2G7/2, 4I15/2 → 4G11/2 and 4I15/2 → 4F5/2 transitions of Er3+ ions, respectively. The emission bands are placed at 582 nm, 677 nm and 762 nm that are associated with 2H11/2, 4S3/2 → 4I15/2, 4F9/2 → 4I15/2, 4I9/2 → 4I15/2 transitions of Er3+ ions, respectively.

Keywords: Er3+, Lu2Ti2O7, photoluminescence, pyrochlore, rare-earths

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Authors: A. Kellou, L. Rouaiguia, L. Rabahi

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In the present work, the atomic hydrogen absorption trend in the GdNi5 and GdNi4Cu rare earth compounds within the hexagonal CaCu5 type of crystal structure (space group P6/mmm) is investigated. The density functional theory (DFT) combined with the generalized gradient approximation (GGA) is used to study the site preference of atomic hydrogen at 0K. The octahedral and tetrahedral interstitial sites are considered. The formation energies and structural properties are determined in order to evaluate hydrogen effects on the stability of the studied compounds. The energetic diagram of hydrogen storage is established and compared in GdNi5 and GdNi4Cu. The magnetic properties of the selected compounds are determined using spin polarized calculations. The obtained results are discussed with and without hydrogen addition taking into account available theoretical and experimental results.

Keywords: density functional theory, hydrogen storage, rare earth compounds, structural and magnetic properties

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Authors: Majid Forghani, Michael Khachay

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In genetics, the impact of neighboring amino acids on a target site is referred as the nearest-neighbor effect or simply neighbor effect. In this paper, a new method called wavelet particle decomposition representing the one-dimensional neighbor effect using wavelet packet decomposition is proposed. The main idea lies in known dependence of wavelet packet sub-bands on location and order of neighboring samples. The method decomposes the value of a signal sample into small values called particles that represent a part of the neighbor effect information. The results have shown that the information obtained from the particle decomposition can be used to create better model variables or features. As an example, the approach has been applied to improve the correlation of test and reference sequence distance with titer in the hemagglutination inhibition assay.

Keywords: antigenic variants, neighbor effect, wavelet packet, wavelet particle decomposition

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Authors: Sarah Pasala, Elizabeth Zacharias

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Vital sign monitoring is crucial for both everyday health and medical diagnosis. A significant factor in assessing a human's health is their vital signs, which include heart rate, breathing rate, blood pressure, and electrocardiogram (ECG) readings. Vital sign monitoring has been the focus of many system and method innovations recently. Piezoelectrics are materials that convert mechanical energy into electrical energy and can be used for vital sign monitoring. Piezoelectric energy harvesters that are stretchable and flexible can detect very low frequencies like airflow, heartbeat, etc. Current advancements in piezoelectric materials and flexible sensors have made it possible to create wearable and implantable medical devices that can continuously monitor physiological signals in humans. But because of their non-biocompatible nature, they also produce a large amount of e-waste and require another surgery to remove the implant. This paper presents a biocompatible and flexible piezoelectric composite material for wearable and implantable devices that offers a high-performance platform for seamless and continuous monitoring of human physiological signals and tactile stimuli. It also addresses the issue of e-waste and secondary surgery. A Lead-free piezoelectric, SrBi4Ti4O15, is found to be suitable for this application because the properties can be tailored by suitable substitutions and also by varying the synthesis temperature protocols. In the present work, SrBi4Ti4O15 modified by rare-earth has been synthesized and studied. Coupling factors are calculated from resonant (fr) and anti-resonant frequencies (fa). It is observed that Samarium substitution in SBT has increased the Curie temperature, dielectric and piezoelectric properties. From impedance spectroscopy studies, relaxation, and non-Debye type behaviour are observed. The composite of bioresorbable poly(l-lactide) and Lead-free rare earth modified Bismuth Layered Ferroelectrics leads to a flexible piezoelectric device for non-invasive measurement of vital signs, such as heart rate, breathing rate, blood pressure, and electrocardiogram (ECG) readings and also artery pulse signals in near-surface arteries. These composites are suitable to detect slight movement of the muscles and joints. This Lead-free rare earth modified Bismuth Layered Ferroelectrics – polymer composite is synthesized using a ball mill and the solid-state double sintering method. XRD studies indicated the two phases in the composite. SEM studies revealed the grain size to be uniform and in the range of 100 nm. The electromechanical coupling factor is improved. The elastic constants are calculated and the mechanical flexibility is found to be improved as compared to the single-phase rare earth modified Bismuth Latered piezoelectric. The results indicate that this composite is suitable for the non-invasive detection of multiple vital signs of humans.

Keywords: composites, flexible, non-invasive, piezoelectric

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Authors: Jatinder Pal Singh, Harpreet Singh, Gagandeep Singh Digra, Mandeep Kaur Sidhu, Pawan Kumar

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Introduction: Ganglion cyst is a benign condition in which there is a cystic lesion in relation to a joint or a tendon sheath arising from myxoid degeneration of fibrous connective tissue. These can be unilocular or multilocular. In rare cases, there may be multiple ganglion cysts, known as cystic ganglionosis. They can occur at any age but are commonly seen in adults. Clinically they may be asymptomatic or present as swelling or mass effect in adjacent structures. These are common in extremities such as hands and feet. Case Presentation: 11-year-old female child presented with slowly progressive painless swelling of her right hand since the age of 4. Antenatal and perinatal history was unremarkable. Her family history was negative. She denies fever, malaise, morning stiffness, weight loss, fatigue, restriction of joint movements, or any sensory and motor deficit. Lab parameters were negative for inflammatory or infectious etiology. No other joint or extremity involvement was present. On physical examination, the swelling was present on the dorsum and palmer aspect of the right hand and wrist. They were non-tender on palpation without any motor or sensory deficit. MRI hand revealed multiple well-defined fluid signal intensity cystic appearing lesions in periarticular/intraarticular locations in relation to distal radio-ulnar, radio-carpal, intercarpal, carpometacarpal, metacarpophalangeal and interphalangeal joints as well as peritendinous location around flexor tendons more so in the region of wrist, palm, 1st and 5th digit and along extensor tendons in the region of wrist, largest one noted along flexor pollicis longus tendon in thenar region and along 1st digit measuring approx. 4.6 x 1.2 x 1.2 centimeter. Pressure erosions and bone remodelling were noted in the bases of the 2nd to 5th metacarpals, capitate, trapezoid, the distal shaft of 1st metacarpal, and proximal phalanx of 1st digit. Marrow edema was noted in the base and proximal shaft of the 4th metacarpal and proximal shaft of the 3rd metacarpal – likely stress or pressure related. The patient was advised of aspiration, but the family refused the procedure. Therefore the patient was kept on conservative treatment. Conclusion: Cystic ganglionosis is a rare condition with very few cases reported in the medical literature. Its prevalence and association are not known because of the rarity of this condition. It should be considered as an important differential in patients presenting with soft tissue swelling in extremities. Treatment option includes conservative management, aspiration, and surgery. Aspiration has a high recurrence rate. Although surgery has a low recurrence rate, it carries a high rate of complications. Imaging with MRI is essential for confirmation of the cystic nature of lesions and their relation with the joint capsules or tendons. This helps in differentiating from other soft tissue lesions and presurgical planning.

Keywords: radiology, rare, cystic ganglionosis, child

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Authors: Jelena Maletkovic

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Background: Endogenous Cushing’s syndrome is a rare disease, but iatrogenic or drug related Cushing syndrome from glucocorticoid products is commonly seen in clinical practice. With high dose and long term use of glucocorticoids, patients can develop isolated hypothalamic-pituitary-adrenal (HPA) suppression, or HPA axis suppression can be accompanied by overt iatrogenic Cushing’s syndrome. This is a rare case where severe Cushing’s syndrome developed from an unknown medication and was followed by severe and prolonged adrenal insufficiency and multiple potentially fatal complications. Case: This is a 37-year-old woman who is presented to Emergency Room (ER) with shortness of breath and chest pain. Four months prior to this presentation the patient was a generally healthy woman who was looking for improvement in her appearance and visited local Rejuvenation Clinic. After initial consultation with a nurse, she was contacted by a physician over the phone and was advised to start taking multiple injectable medications that will arrive by mail. Medications without any labels on bottles were delivered and the patient started daily intramuscular injections. Over the next two months, she noticed rounding of her face and swelling around her eyes. She gained 20 pounds, mostly abdominal fat and became extremely fatigued. Her muscles on legs were visibly decreasing in size and she felt significant muscle weakness. Unexplained bruising occurred. She started growing hair on face and developed secondary amenorrhea. New severe back pain started. She developed depression and headaches. Finally, over a few days, a number of red-purple stretch marks that were sensitive and painful appeared over her abdomen, upper part of arms and legs. She then became suspicious that these dramatic symptoms are caused by injectable medication and she discontinued injections. Over the next few days she presented to ER with low blood pressure and oxygen saturation of 75%. Studies revealed extensive pneumonia as well as multiple pulmonary emboli. Her white blood count was elevated with 32 000 and she also had acute kidney failure on admission. She was treated for sepsis and was also given stress dose steroids. Steroids were tapered over 48 hours and discontinued. After being discharged to home, on her first visit to endocrinology clinic she had undetectable ACTH of < 2pg/mL and undetectable 8am cortisol of < 0.2mcg/dL. She did not respond to an intramuscular injection of cosyntropin 250mcg and her repeated cortisol after 60 minutes was only 1mcg/dL. The patient was diagnosed with adrenal insufficiency and was started on hydrocortisone 20mg+10mg. It took close to 2 years of slow tapering for recovery of this patient’s HPA axis and resolve all the sequelae from Cushing’s syndrome. Conclusion: Misuse and abuse of glucocorticoids have been present almost since these medications were discovered. This is a rare case where not only severe Cushing’s syndrome in full clinical picture developed but also the patient suffered multiple potentially fatal complications and prolonged adrenal insufficiency. Visits to herbal, rejuvenation, esthetic, and similar clinics are becoming more and more popular and physicians need to be aware of possible non-benign nature of medications that their patients may be using.

Keywords: iatrogenic, Cushing's syndrome, adrenal crisis, steroid abuse

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Authors: Mahboubeh Davoudi Pahnekolayi

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

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

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Authors: J. Winkler, S. Chovancová

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The article deals with the relation between rainfall in selected months and subsequent weed infestation of spring barley. The field experiment was performed at Mendel University agricultural enterprise in Žabčice, Czech Republic. Weed infestation was measured in spring barley vegetation in years 2004 to 2012. Barley was grown in three tillage variants: conventional tillage technology (CT), minimization tillage technology (MT), and no tillage (NT). Precipitation was recorded in one-day intervals. Monthly precipitation was calculated from the measured values in the months of October through to April. The technique of canonical correspondence analysis was applied for further statistical processing. 41 different species of weeds were found in the course of the 9-year monitoring period. The results clearly show that precipitation affects the incidence of most weed species in the selected months, but acts differently in the monitored variants of tillage technologies.

Keywords: weeds, precipitation, tillage, weed infestation forecast

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Authors: Naso Isaiah Thanavisuth

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Introduction: Medical cannabis can be used for treatment, including anorexia, pain, inflammation, multiple sclerosis, Parkinson's disease, epilepsy, cancer, and metabolic syndrome-related disorders. However, medical cannabis leads to adverse effects (AEs), which is delta-9-tetrahydrocannabinol (THC). In previous studies, the major of THC metabolism enzymes are CYP2C9. Especially, the variation of CYP2C9 gene consist of CYP2C9*2 on exon 3 (C430T) (Arg144Cys) and CYP2C9*3 on exon 7 (A1075C) (Ile359Leu) to decrease enzyme activity. Notwithstanding, there is no data describing whether the variant of CYP2C9 genes are a pharmacogenetics marker for prediction of THC-induced AEs in Thai patients. Objective: We want to investigate the association between CYP2C9 gene and THC-induced AEs in Thai patients. Method: We enrolled 39 Thai patients with medical cannabis treatment consisting of men and women who were classified by clinical data. The quality of DNA extraction was assessed by using NanoDrop ND-1000. The CYP2C9*2 and *3 genotyping were conducted using the TaqMan real time PCR assay (ABI, Foster City, CA, USA). Results: All Thai patients who received the medical cannabis consist of twenty four (61.54%) patients who were female and fifteen (38.46%) were male, with age range 27- 87 years. Moreover, the most AEs in Thai patients who were treated with medical cannabis between cases and controls were tachycardia, arrhythmia, dry mouth, and nausea. Particularly, thirteen (72.22%) medical cannabis-induced AEs were female and age range 33 – 69 years. In this study, none of the medical cannabis groups carried CYP2C9*2 variants in Thai patients. The CYP2C9*3 variants (*1/*3, intermediate metabolizer, IM) and (*3/*3, poor metabolizer, PM) were found, three of thirty nine (7.69%) and one of thirty nine (2.56%) , respectively. Conclusion: This is the first study to confirm the genetic polymorphism of CYP2C9 and medical cannabis-induced AEs in the Thai population. Although, our results indicates that there is no found the CYP2C9*2. However, the variation of CYP2C9 allele might serve as a pharmacogenetics marker for screening before initiating the therapy with medical cannabis for prevention of medical cannabis-induced AEs.

Keywords: CYP2C9, medical cannabis, adverse effects, THC, P450

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Authors: Tarana Siddika, Ilka U. Heinemann, Patrick O’Donoghue

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Protein kinase B (AKT1) is a serine/threonine kinase and central transducer of cell survival pathways. Typical approaches to study AKT1 biology in cells rely on growth factor or insulin stimulation that activates AKT1 via phosphorylation at two key regulatory sites (Threonine308, Serine473), yet cell stimulation also activates many other kinases and fails to differentiate the effect of the two main activating sites of AKT1 on downstream substrate phosphorylation and cell growth. While both AKT1 activating sites are associated with disease and used as clinical markers, in some cancers, high levels of Threonine308 phosphorylation are associated with poor prognosis while in others poor survival correlates with high Serine473 levels. To produce cells with specific AKT1 activity, a system was developed to deliver active AKT1 to human cells. AKT1 phospho-variants were produced from Escherichia coli with programmed phosphorylation by genetic code expansion. Tagging of AKT1 with an N-terminal cell penetrating peptide tag derived from the human immunodeficiency virus trans-activator of transcription (TAT) helped to enter AKT1 proteins in mammalian cells. The TAT-tag did not alter AKT1 kinase activity and was necessary and sufficient to rapidly deliver AKT1 protein variants that persisted in human cells for 24 h without the need to use transfection reagents. TAT-pAKT1T308, TAT-pAKT1S473 and TAT-pAKT1T308S473 proteins induced selective phosphorylation of the known AKT1 substrate GSK-3αβ, and downstream stimulation of the AKT1 pathway as evidenced by phosphorylation of ribosomal protein S6 at Serine240/244 in transfected cells. Increase in cell growth and proliferation was observed due to the transfection of different phosphorylated AKT1 protein variants compared to cells with TAT-AKT1 protein. The data demonstrate efficient delivery of AKT1 with programmed phosphorylation to human cells, thus establishing a cell-based model system to investigate signaling that is dependent on specific AKT1 activity and phosphorylation.

Keywords: cell penetrating peptide, cell signaling, protein kinase b (AKT1), phosphorylation

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Authors: Techale B., Hongxu Dong, Mihrete Getinet, Aregash Gabizew, Andrew H. Paterson, Kassahun Bantte

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The genetic architecture of drought tolerance is expected to involve multiple loci that are unlikely to all segregate for alternative alleles in a single bi-parental population. Therefore, the identification of quantitative trait loci (QTL) that are expressed in diverse genetic backgrounds of multiple bi-parental populations provides evidence about both background-specific and common genetic variants. The purpose of this study was to map QTL related to drought tolerance using three connected mapping populations of different genetic backgrounds to gain insight into the genomic landscape of this important trait in elite Ethiopian germplasm. The three bi-parental populations, each with 207 F₂:₃ lines, were evaluated using an alpha lattice design with two replications under two moisture stress environments. Drought tolerance related traits were analyzed separately for each population using composite interval mapping, finding a total of 105 QTLs. All the QTLs identified from individual populations were projected on a combined consensus map, comprising a total of 25 meta QTLs for seven traits. The consensus map allowed us to deduce locations of a larger number of markers than possible in any individual map, providing a reference for genetic studies in different genetic backgrounds. The mQTL identified in this study could be used for marker-assisted breeding programs in sorghum after validation. Only one trait, reduced leaf senescence, showed a striking bias of allele distribution, indicating substantial standing variation among present varieties that might be employed in improving drought tolerance of Ethiopian and other sorghums.

Keywords: Drought tolerance , Mapping populations, Meta QTL, QTL mapping, Sorghum

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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: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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Authors: A. Lubis, R. Widayanti, Z. Hikmah, A. Endaryanto, A. Harsono, A. Harianto, R. Etika, D. K. Handayani, M. Sampurna

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Neonatal lupus erythematous (NLE) is a rare disease marked by clinical characteristic and specific maternal autoantibody. Many cutaneous, cardiac, liver, and hematological manifestations could happen with affect of one organ or multiple. In this case, both babies were premature, low birth weight (LBW), small for gestational age (SGA) and born through caesarean section from a systemic lupus erythematous (SLE) mother. In the first case, we found a baby girl with dyspnea and grunting. Chest X ray showed respiratory distress syndrome (RDS) great I and echocardiography showed small atrial septal defect (ASD) and ventricular septal defect (VSD). She also developed anemia, thrombocytopenia, elevated C-reactive protein, hypoalbuminemia, increasing coagulation factors, hyperbilirubinemia, and positive blood culture of Klebsiella pneumonia. Anti-Ro/SSA and Anti-nRNP/sm were positive. Intravenous fluid, antibiotic, transfusion of blood, thrombocyte concentrate, and fresh frozen plasma were given. The second baby, male presented with necrotic tissue on the left ear and skin rashes, erythematous macula, athropic scarring, hyperpigmentation on all of his body with various size and facial haemorrhage. He also suffered from thrombocytopenia, mild elevated transaminase enzyme, hyperbilirubinemia, anti-Ro/SSA was positive. Intravenous fluid, methyprednisolone, intravenous immunoglobulin (IVIG), blood, and thrombocyte concentrate transfution were given. Two cases of neonatal lupus erythematous had been presented. Diagnosis based on clinical presentation and maternal auto antibody on neonate. Organ involvement in NLE can occur as single or multiple manifestations.

Keywords: neonatus lupus erythematous, maternal autoantibody, clinical characteristic, multiple organ manifestation

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Authors: S. Deswal, M. Pal

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The paper aims to compare the performance of vertical and inclined multiple plunging jets and to model and predict their mass transfer capacity by multi-linear regression based approach. The multiple vertical plunging jets have jet impact angle of θ = 90O; whereas, multiple inclined plunging jets have jet impact angle of θ = 600. The results of the study suggests that mass transfer is higher for multiple jets, and inclined multiple plunging jets have up to 1.6 times higher mass transfer than vertical multiple plunging jets under similar conditions. The derived relationship, based on multi-linear regression approach, has successfully predicted the volumetric mass transfer coefficient (KLa) from operational parameters of multiple plunging jets with a correlation coefficient of 0.973, root mean square error of 0.002 and coefficient of determination of 0.946. The results suggests that predicted overall mass transfer coefficient is in good agreement with actual experimental values; thereby suggesting the utility of derived relationship based on multi-linear regression based approach and can be successfully employed in modelling mass transfer by multiple plunging jets.

Keywords: mass transfer, multiple plunging jets, multi-linear regression, earth sciences

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Authors: Svetlana Chovancova, Frantisek Illek, Jan Winkler

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The effect of tillage technology of maize on intensity of weed infestation and weed species composition was observed at experimental field. Maize is grown consecutively since 2001. The experimental site is situated at an altitude of 230 m above sea level in the Czech Republic. Variants of tillage technology are CT: plowing – conventional tillage 0.22 m, MT: loosening – disc tillage on the depth of 0.1 – 0.12 m, NT: direct sowing – without tillage. The evaluation of weed infestation was carried out by numerical method in years 2012 and 2013. Within the monitoring were found 20 various species of weeds. Conventional tillage (CT) primarily supports the occurrence of perennial weeds (Cirsium arvense, Convolvulus arvensis). Late spring species (Chenopodium album, Echinochloa crus-galli) were more frequently noticed on variants of loosening (MT) and direct sowing (NT). Different tillage causes a significant change of weed species spectrum in maize.

Keywords: weeds, maize, tillage, loosening, direct sowing

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Authors: Jean Pierre Kabue, Emma Meader, Afsatou Ndama Traore, Paul R. Hunter, Natasha Potgieter

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Norovirus is now considered the most common cause of outbreaks of nonbacterial gastroenteritis. Limited data are available for Norovirus strains in Africa, especially in rural and peri-urban areas. Despite the excessive burden of diarrhea disease in developing countries, Norovirus infections have been to date mostly reported in developed countries. There is a need to investigate intensively the role of viral agents associated with diarrhea in different settings in Africa continent. To determine the prevalence and genetic diversity of Norovirus strains circulating in the rural communities in the Limpopo Province, South Africa and investigate the genetic relationship between Norovirus strains, a cross-sectional study was performed on human stools collected from rural communities. Between July 2014 and April 2015, outpatient children under 5 years of age from rural communities of Vhembe District, South Africa, were recorded for the study. A total of 303 stool specimens were collected from those with diarrhea (n=253) and without (n=50) diarrhea. NoVs were identified using real-time one-step RT-PCR. Partial Sequence analyses were performed to genotype the strains. Phylogenetic analyses were performed to compare identified NoVs genotypes to the worldwide circulating strains. Norovirus detection rate was 41.1% (104/253) in children with diarrhea. There was no significant difference (OR=1.24; 95% CI 0.66-2.33) in Norovirus detection between symptomatic and asymptomatic children. Comparison of the median CT values for NoV in children with diarrhea and without diarrhea revealed significant statistical difference of estimated GII viral load from both groups, with a much higher viral burden in children with diarrhea. To our knowledge, this is the first study reporting on the differences in estimated viral load of GII and GI NoV positive cases and controls. GII.Pe (n=9) were the predominant genotypes followed by GII.Pe/GII.4 Sydney 2012 (n=8) suspected recombinant and GII.4 Sydney 2012 variants(n=7). Two unassigned GII.4 variants and an unusual RdRp genotype GII.P15 were found. With note, the rare GIIP15 identified in this study has a common ancestor with GIIP15 strain from Japan previously reported as GII/untypeable recombinant strain implicated in a gastroenteritis outbreak. To our knowledge, this is the first report of this unusual genotype in the African continent. Though not confirmed predictive of diarrhea disease in this study, the high detection rate of NoV is an indication of subsequent exposure of children from rural communities to enteric pathogens due to poor sanitation and hygiene practices. The results reveal that the difference between asymptomatic and symptomatic children with NoV may possibly be related to the NoV genogroups involved. The findings emphasize NoV genetic diversity and predominance of GII.Pe/GII.4 Sydney 2012, indicative of increased NoV activity. An uncommon GII.P15 and two unassigned GII.4 variants were also identified from rural settings of the Vhembe District/South Africa. NoV surveillance is required to help to inform investigations into NoV evolution, and to support vaccine development programmes in Africa.

Keywords: asymptomatic, common, outpatients, norovirus genetic diversity, sporadic gastroenteritis, South African rural communities, symptomatic

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Authors: Jaspinder Kaur, Jatinder Pal Singh

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Introduction- Delusional parasitosis is a rare psychotic illness characterized by a fixed belief of manifesting a parasite in a body when in reality, it was not. Also known as Ekbom syndrome or delusional infestations, or acarophobia. Although the patient has no primary skin pathology, but all skin findings were secondary to skin manipulation by the patient itself, which is why up to 90% of patients first seek consultation from a dermatologist. Most commonly, it was seen in older people with female to male ratio is 2:1. For treatment, the patient first need to be investigated to rule all other possible causes, as Delusional parasitosis can be caused by Vitamin B12 deficiency, pellagra, hepatic and renal disease, diabetes mellitus, multiple sclerosis, and leprosy. When all possible causes ruled out, psychiatric referral to be done. Rule out other psychiatric comorbidities, and treatment should be done accordingly. Patient with delusional parasitosis responds well to second generation antipsychotics and need to continuous medication over years, and relapse is likely if treatment is stopped. Case Presentation- A 79-year-old female, belonging to lower socio-economic status, presented with complaints of itching sensation with erythematous patches over the scalp and multiple scratch excoriations lesion over the scalp, face and neck from the past 7-8 months. She had a feeling of small insect crawling under her skin and scalp area. To reduce the itching and kill the insect, she would scratch and squeeze her skin repeatedly. When the family tried to give her explanation that there was no insect in her body, she would not get convinced, rather got angry and abuse family members for not believing her. Gradually, her sleep would remain disturbed, she would be seen awake at night, seen to be scratching her skin, pull her scalp hair, even squeeze out her healed lesions. She collected her skin debris, scalp hairs and look out for insect. Because of her continuous illness, the patient started to remain sad and had crying spells. Her appetite decreased. She became socially isolated and stopped doing her activities of daily living. Family member’s first consulted dermatologist, investigated thoroughly with routine investigations, autoimmune and malignancy workup. As all investigations were normal, following which patient was referred for psychiatric evaluation. The patient was started on Tablet Olanzapine 2.5 mg, gradually increased to 7.5 mg. Over 1 month, there was reduction in itching, skin pricking. Lesions were gradually healed, and the patient continued to take other dermatological medications and ointment and was in regular follow up with psychiatric liaison from past 2 months with 70-80 % improvement in her symptoms. Conclusion- Delusional parasitosis is a psychiatric disorder of insidious onset, seen commonly in middle and old age people. Both psychiatric and dermatology consultation liaison will help the patient for an early diagnosis and adequate treatment. If a primary psychiatric diagnosis, the patient respond well to second generation antipsychotics but always require a further evaluation and treatment management if it is secondary to some physical or other psychiatric comorbidity.

Keywords: delusional parasitosis, delusional infestations, rare, primary psychiatric diagnosis, antipsychotic agents

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Authors: Sait Ozsoy, Asude Gokmen, Mehtap Yondem, Hanife A. Alkan, Gulnaz T. Javan

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Deep neck infection often develops due to upper respiratory tract and odontogenic infections. Gastrointestinal System perforation can occur for many reasons and is in need of the early diagnosis and prompt surgical treatment. In both cases late or incorrect diagnosis may lead to increase morbidity and high mortality. A patient with a diagnosis of deep neck abscess died while under treatment due to sepsis and multiple organ failure. Autopsy finding showed duodenal ulcer and this is reported in the literature.

Keywords: peptic ulcer perforation, peritonitis, retropharyngeal abscess, sepsis

Procedia PDF Downloads 478

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

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

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

Procedia PDF Downloads 320

Authors: Kristýna Weissová

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

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

Procedia PDF Downloads 92

Authors: A. Samer Ezeldin, Sarah A. Fotouh

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Optimization of resources is very important in all fields, as in construction management. Project managers have to face problems regarding management of cost, time and available resources of single projects and more problems arise when managing multiple projects. Most of the studies focused on optimization of resources for a single project, but, this paper will discuss the design and modeling of multiple resources optimization for multiple projects using Genetic Algorithm. Most of the companies in construction industry optimize the resources for single projects only, but with the presence of several mega projects in several developing countries running at the same time, there is a need for a model to enhance the efficiency of available resources and decreases the fluctuation as much as possible. The proposed model calculates the cost of each resource, tries to minimize the cost of extra resources as much as possible and generates the schedule of each project within a selected program.

Keywords: construction management, genetic algorithm, multiple projects, multiple resources, optimization

Procedia PDF Downloads 433

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

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

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

Procedia PDF Downloads 365

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

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

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

Procedia PDF Downloads 53

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

Abstract:

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

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

Procedia PDF Downloads 340

Authors: Anshul Raja

Abstract:

Cystic lesions of the spleen are rare and splenic hydatid cysts account for only 0.5% to 8% of all hydatidosis. Authors hereby report a case where a 50-year-old female presented to our hospital with the complains of heaviness and pain over left upper abdomen over the past 8-10 years. On radiological examination, ultrasonography revealed findings consistent with isolated splenic hydatid cyst and was later on confirmed on Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). No other organ or system involvement was seen. The patient underwent splenectomy and hydatid cyst was confirmed on histopathology. Owing to its rarity, it offers a diagnostic challenge to physicians but can reliably be diagnosed with great confidence employing various imaging modalities like CT and MRI.

Keywords: gastrointestinal radiology, abdominal imaging, hydatid cyst, medical and health sciences

Procedia PDF Downloads 382

Authors: Eisa Younes Alblooshi

Abstract:

Counterterrorism strategies, to be effective and efficient, require a sound understanding of the dynamics, the interlinked organizational elements of the terrorist outfits being combated, with a view to having cognizance of their strong points to be guarded against, as well as the vulnerable zones that can be targeted for optimal results in a timely fashion by counterterrorism agencies. A unique model regarding the organizational imperatives was evolved in this research through likening the terrorist organizations with the traditional commercial ones, with a view to understanding in detail the dynamics of interconnectivity and dependencies, and the related compulsions facing the leaderships of such outfits that provide counterterrorism agencies with opportunities for forging better strategies. It involved assessing the evolving organizational dynamics and imperatives of different types of terrorist organizations, to enable the researcher to construct a prototype model that defines the progression and linkages of the related organizational elements of such organizations. It required detailed analysis of how the various elements are connected, with sequencing identified, as any outfit positions itself with respect to its external environment and internal dynamics. A case study focusing on a transnational radical religious state-sponsored terrorist organization was conducted to validate the research findings and to further strengthen the specific counterterrorism strategies. Six different variants of the business model of terrorist organizations were identified, categorized based on their outreach, mission, and status of any state sponsorship. The variants represent vast majority of the range of terrorist organizations acting locally or globally. The model shows the progression and dynamics of these organizations through various dimensions including mission, leadership, outreach, state sponsorship status, resulting in the organizational structure, state of autonomy, preference divergence in its fold, recruitment core, propagation avenues, down to their capacity to adapt, resulting critically in their own life cycles. A major advantage of the model is the utility of mapping terrorist organizations according to their fits to the sundry identified variants, allowing for flexibility and differences within, enabling the researchers and counterterrorism agencies to observe a neat blueprint of the organization’s footprint, along with highlighting the areas to be evaluated for focused target zone selection and timing of counterterrorism interventions. Special consideration is given to the dimension of financing, keeping in context the latest developments regarding cryptocurrencies, hawala, and global anti-money laundering initiatives. Specific counterterrorism strategies and intervention points have been identified for each of the respective model variants, with a view to efficient and effective deployment of resources.

Keywords: terrorism, counterterrorism, model, strategy

Procedia PDF Downloads 137

Authors: Shahla Afshar Paiman, Sedigheh Madani, Zahra Hosseininezhad

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

Keywords: Varicella zoster, appendicitis, encephalitis, children

Procedia PDF Downloads 40

Authors: B. S. Akhmetov, P. T.Kharitonov, L. Sh. Balgabayeva, O. V. Kisseleva, T. S. Kartbayev

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This article analyzes the applicability of known renewable energy technical means as mobile power sources under the field and extreme conditions. The requirements are determined for the parameters of mobile micro-HPP. The application prospectively of the mobile micro-HPP with intelligent control systems is proved for this purpose. Variants of low-speed electric generators for micro HPP are given. Variants of designs for mobile micro HPP are presented with the direct (gearless) transfer of torque from the hydraulic drive to the rotor of the electric generator. Variant of the hydraulic drive for micro HPP is described workable at low water flows. A general structure of the micro HPP intelligent system control is offered that implements the principle of maximum energy efficiency. The legitimacy of construction and application of mobile micro HPP is proved as electrical power sources for life safety of people under the field and extreme conditions.

Keywords: mobile micro-hydro powerplants, information management systems, hydraulic drive, computer science

Procedia PDF Downloads 391

Authors: Daniel C. Bonzo

Abstract:

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

Keywords: clustered data, estimand, extrapolation, mixed model

Procedia PDF Downloads 121