Search results for: preimplantation genetic screening

Authors: Simona Perga, Chiara Beltramo, Floriana Fruscione, Isabella Martini, Federica Cavallo, Federica Riccardo, Paolo Buracco, Selina Iussich, Elisabetta Razzuoli, Katia Varello, Lorella Maniscalco, Elena Bozzetta, Angelo Ferrari, Paola Modesto

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Introduction: Human and canine melanoma have common clinical, histologic characteristics making dogs a good model for comparative oncology. The identification of specific genes and a better understanding of the genetic landscape, signaling pathways, and tumor–microenvironmental interactions involved in the cancer onset and progression is essential for the development of therapeutic strategies against this tumor in both species. In the present study, the differential expression of genes in spontaneously occurring canine melanoma and in paired normal tissue was investigated by targeted RNAseq. Material and Methods: Total RNA was extracted from 17 canine malignant melanoma (CMM) samples and from five paired normal tissues stored in RNA-later. In order to capture the greater genetic variability, gene expression analysis was carried out using two panels (Qiagen): Human Immuno-Oncology (HIO) and Mouse-Immuno-Oncology (MIO) and the miSeq platform (Illumina). These kits allow the detection of the expression profile of 990 genes involved in the immune response against tumors in humans and mice. The data were analyzed through the CLCbio Genomics Workbench (Qiagen) software using the Canis lupus familiaris genome as a reference. Data analysis were carried out both comparing the biologic group (tumoral vs. healthy tissues) and comparing neoplastic tissue vs. paired healthy tissue; a Fold Change greater than two and a p-value less than 0.05 were set as the threshold to select interesting genes. Results and Discussion: Using HIO 63, down-regulated genes were detected; 13 of those were also down-regulated comparing neoplastic sample vs. paired healthy tissue. Eighteen genes were up-regulated, 14 of those were also down-regulated comparing neoplastic sample vs. paired healthy tissue. Using the MIO, 35 down regulated-genes were detected; only four of these were down-regulated, also comparing neoplastic sample vs. paired healthy tissue. Twelve genes were up-regulated in both types of analysis. Considering the two kits, the greatest variation in Fold Change was in up-regulated genes. Dogs displayed a greater genetic homology with humans than mice; moreover, the results have shown that the two kits are able to detect different genes. Most of these genes have specific cellular functions or belong to some enzymatic categories; some have already been described to be correlated to human melanoma and confirm the validity of the dog as a model for the study of molecular aspects of human melanoma.

Keywords: animal model, canine melanoma, gene expression, spontaneous tumors, targeted RNAseq

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Authors: Avani Jain, S. Shelley, M. Indirani, Shilpa Kalal, Jaykanth Amalachandran

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Aim: To evaluate the prevalence of gall bladder dysfunction in patients with dyspepsia using In-House fatty meal cholescintigraphy. Materials & Methods: This study is a prospective cohort study. 59 healthy volunteers with no dyspeptic complaints and negative ultrasound and endoscopy were recruited in study. 61 patients having complaint of dyspepsia for duration of more than 6 months were included. All of them underwent 99mTc-Mebrofenin fatty meal cholescintigraphy following a standard protocol. Dynamic acquisitions were acquired for 120 minutes with an In-House fatty meal being given at 45th minute. Gall bladder emptying kinetics was determined with gall bladder ejection fractions (GBEF) calculated at 30minutes, 45minutes and at 60 minutes (30min, 45min & 60 min). Standardization of fatty meal was done for volunteers. Receiver operating characteristic (ROC) analysis was used assess the diagnostic accuracy of 3 time points (30min, 45min & 60 min) used for measuring gall bladder emptying. On the basis of cut off derived from volunteers, the patients were assessed for gall bladder dysfunction. Results: In volunteers, the GBEF at 30 min was 74.42±8.26 % (mean ±SD), at 45 min was 82.61 ± 6.5 % and at 60 min was 89.37±4.48%, compared to patients where at 30min it was 33.73±22.87%, at 45 min it was 43.03±26.97% and at 60 min it was 51.85±29.60%. The lower limit of GBEF in volunteers at 30 min was 60%, 45 min was 69% and at 60 min was 81%. ROC analysis showed that area under curve was largest for 30 min GBEF (0.952; 95% CI = 0.914-0.989) and that all the 3 measures were statistically significant (p < 0.005). Majority of the volunteers had 74% of gall bladder emptying by 30 minutes; hence it was taken as an optimum cutoff time to assess gall bladder contraction. > 60% GBEF at 30 min post fatty meal was considered as normal and < 60% GBEF as indicative of gall bladder dysfunction. In patients, various causes for dyspepsia were identified: GB dysfunction (63.93%), Peptic ulcer (8.19 %), Gastroesophageal reflux disease (8.19%), Gastritis (4.91%). In 18.03% of cases GB dysfunction coexisted with other gastrointestinal conditions. The diagnosis of functional dyspepsia was made in 14.75% of cases. Conclusions: Gall bladder dysfunction contributes significantly to the causation of dyspepsia. It could coexist with various other gastrointestinal diseases. Fatty meal was well tolerated and devoid of any side effects. Many patients who are labeled as functional dyspeptics could actually have gall bladder dysfunction. Hence as an adjunct to ultrasound and endoscopy, fatty meal cholescintigraphy can also be used as a screening modality in characterization of dyspepsia.

Keywords: in-house fatty meal, choescintigraphy, dyspepsia, gall bladder ejection fraction, functional dyspepsia

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Authors: Werona Król-Gierat

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The majority of Special Educational Needs checklists are intended for preliminary screening in the special education disability process. The aim of the present paper is to present their potential usefulness as in-class observation tools for teachers working with students who have already been diagnosed with a disorder. A checklist may complement and organize information about a given child, which is indispensable to improve his or her condition. The case of a Polish boy with autism will serve as an example. Last but not the least, alternative uses of checklists are suggested in the article.

Keywords: autism spectrum disorders, case study, checklist, observation tool

Procedia PDF Downloads 350

Authors: Rachel Goh, Alexander McNab, Brent Alsop, David O'Hare

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In a busy airport, the decision whether to take passengers aside and search their luggage for dangerous items can have important consequences. If an officer fails to search and stop a bag containing a dangerous object, a life-threatening incident might occur. But stopping a bag unnecessarily means that the officer might lose time searching the bag and face an angry passenger. Passengers’ bags, however, are often cluttered with personal belongings of varying shapes and sizes. It can be difficult to determine what is dangerous or not, especially if the decisions must be made quickly in cases of busy flight schedules. Additionally, the decision to search bags is often made with input from the surrounding officers on duty. This scenario raises several questions: 1) Past findings suggest that humans are more reliant on an automated aid when under time pressure in a visual search task, but does this translate to human-human reliance? 2) Are humans more likely to agree with another person if the person is assumed to be an expert or a novice in these ambiguous situations? In the present study, forty-one participants performed a simulated luggage-screening task. They were partnered with an advisor of two different statuses (expert vs. novice), but of equal accuracy (90% correct). Participants made two choices each trial: their first choice with no advisor input, and their second choice after advisor input. The second choice was made within either 2 seconds or 8 seconds; failure to do so resulted in a long time-out period. Under the 2-second time pressure, participants were more likely to disagree with their own first choice and agree with the expert advisor, regardless of whether the expert was right or wrong, but especially when the expert suggested that the bag was safe. The findings indicate a tendency for people to assume less responsibility for their decisions and defer to their partner, especially when a quick decision is required. This over-reliance on others’ opinions might have negative consequences in real life, particularly when relying on fallible human judgments. More awareness is needed regarding how a stressful environment may influence reliance on other’s opinions, and how better techniques are needed to make the best decisions under high stress and time pressure.

Keywords: advisors, decision-making, time pressure, trust

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Authors: C. V. Nnamani, O. L. Adedeji

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The contemporary global economic meltdown has devastating effect on the Nigerian’s economy and its frantic search for alternative source of national revenue aside from oil and gas has become imperative for economic emancipation for Nigerians. Apicultural entrepreneurship could provide a source of livelihood if the basic knowledge of those plant genetic resources needed by bees is made available. A palynological evaluation of those palynotaxa which honey bees forage for pollen and nectar was carried out after standard acetolysis method. Results showed that the honey samples were highly diversified and rich in honey plants. A total of 9544.3 honey pollen, consisting of 39 honey plants belonging to 21 plant families and distributed within 38 genera were identified excluding 238 unidentified pollen grains. Data from the analysis equally revealed that Elaeis guineensis Jacq, Anacardium occidentale L, Diospyros mespiliformis Hochist xe ADC, Alchornea cordifolia Muell, Arg, Daniella oliveri (Rolfe) Hutch & Dalz, Irvingia wombolu Okafor ex Baill, Treculia africana Decne, Nauclea latifolia Smith and Crossopteryx febrifuga Afzil ex Benth were the predominant honey plants. It provided a guide to the optimal utilization of floral resources by honeybees in these regions, showing the opportunity and amazing potentials for apiculture entrepreneurship of these palytaxa. Most of these plants are rare, threatened and endangered. It calls for urgent conservation techniques and step by all players. Critical awareness creation to ensure farmers knowledge of these palynotaxa to ensure proper understanding and attendance boost from them as economic empowerment is needed.

Keywords: palynotaxa, acetolysis, enterprise, livelihood, Nigeria

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Authors: Shreya Sara Ittycheria, K. C. Sivakumar, Shijulal Nelson Sathi, Priya Srinivas

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hCG, a heterodimer composed of α and β subunits, is a peptide hormone having numerous biological functions. Although hCG is expressed by placenta during pregnancy, ectopic β-hCG secretion is observed in many non-trophoblastic tumors including that of breast. In-vitro and in-vivo studies done in the lab, have proved that BRCA1 defective cancers express β-hCG and when β-hCG is expressed or supplemented, it promotes tumor progression and exhibits resistance to carboplatin and ABT888, in such cancers but not in BRCA1 wild type cancers. In cancer cells, instead of binding to its regular receptor, LH-CGR, β-hCG binds with Transforming Growth Factor Receptor 2 (TGFβRII) and phosphorylates it resulting in faster tumor progression through the Smad signaling pathway. Targeting β-hCG could be a potential therapeutic strategy for managing BRCA1 defective cancers. Here, molecular docking and dynamic simulation studies were done to identify potential small molecule inhibitors against β-hCG as there are currently no such inhibitors reported. The binding sites of TGFβRII on β-hCG were identified from the top 10 predicted complexes from Z Dock. Virtual screening of selected commercially available small molecules from various libraries such as ZINC, NCI and Life Chemicals amounting to a total of 50,025 molecules were done. Four potential small molecule inhibitors were identified, RgcbPs-1, RgcbPs-2, RgcbPs-3 and RgcbPs-4 with binding affinities -60.778 kcal/mol, -45.447 kcal/mol, -65.2268 kcal/mol and -82.040 kcal/mol respectively. Further, 100ns Molecular Dynamics (MD) simulation showed that these molecules form stable complexes with β-hCG. RgcbPs-1 maintains hydrogen bonds with Q54, L52, Q46, C100, G36, C57, C38 residues, RgcbPs-2 maintains hydrogen bonds with A83 residue, RgcbPs-3 maintains hydrogen bonds with C57, Y58, R94, G101 residues and RgcbPs-4 maintains hydrogen bonds with G36, C38, T40, C57, D99, C100, G101 and L104 residues of β-hCG all of which coincide with the TGFβRII binding site on β-hCG. These results show that these two inhibitors could be used either singly or in combination for inhibiting β-hCG from binding to TGFβRII and thereby directly inhibiting the tumorigenesis pathway.

Keywords: β-hCG, breast cancer, dynamic simulations, molecular docking, small molecule inhibitors, virtual screening.

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Authors: Sekena H. Abd El-Aziem, Heba A. M. Abd El-Kader, Sally S. Alam, Othman E. Othman

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Growth hormone (GH) is an anabolic hormone synthesized and secreted by the somatotroph cells of the anterior lobe of the pituitary gland in a circadian and pulsatile manner, the pattern of which plays an important role in postnatal longitudinal growth and development, tissue growth, lactation, reproduction as well as protein, lipid and carbohydrate metabolism. The aim of this study was to detect the genetic polymorphism of GH gene in five camel breeds reared in Egypt; Sudany, Somali, Mowaled, Maghrabi and Falahy, using PCR-RFLP technique. Also this work aimed to identify the single nucleotide polymorphism between different genotypes detected in these camel breeds. The amplified fragment of camel GH at 613-bp was digested with the restriction enzyme MspI and the result revealed the presence of three different genotypes; CC, CT and TT in tested breeds and significant differences were recorded in the genotype frequencies between these camel breeds. The result showed that the Maghrabi breed that is classified as a dual purpose camels had higher frequency for allele C (0.75) than those in the other tested four breeds. The sequence analysis declared the presence of a SNP (C→T) at position 264 in the amplified fragment which is responsible for the destruction of the restriction site C^CGG and consequently the appearance of two different alleles C and T. The nucleotide sequences of camel GH alleles T and C were submitted to nucleotide sequences database NCBI/Bankit/GenBank and have accession numbers: KP143517 and KP143518, respectively. It is concluded that only one SNP C→T was detected in GH gene among the five tested camel breeds reared in Egypt and this nucleotide substitution can be used as a marker for the genetic biodiversity between camel breeds reared in Egypt. Also, due to the possible association between allele C and higher growth rate, we can used it in MAS for camels and enter the camels possess this allele in breeding program as a way for enhancement of growth trait in camel breeds reared in Egypt.

Keywords: camel breeds in Egypt, GH, PCR-RFLP, SNPs

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Authors: Margaret Boone Rappaport, Christopher J. Corbally

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The ancient ape ancestral population from which living great ape and human species evolved had demographic features affecting their evolution. The population was large, had great genetic variability, and natural selection was effective at honing adaptations. The emerging populations of chimpanzees and humans were affected more by founder effects and genetic drift because they were smaller. Natural selection did not disappear, but it was not as strong. Consequences of the 'population crash' and the human effective population size are introduced briefly. The history of the ancient apes is written in the genomes of living humans and great apes. The expansion of the brain began before the human line emerged. Coalescence times for some genes are very old – up to several million years, long before Homo sapiens. The mismatch between gene trees and species trees highlights the anthropoid speciation processes, and gives the human genome history a fuzzy, probabilistic quality. However, it suggests traits that might form a foundation for capacities emerging later. A theoretical model is presented in which the genomes of early ape populations provide the substructure for the emergence of religious capacity later on the human line. The model does not search for religion, but its foundations. It suggests a course by which an evolutionary line that began with prosimians eventually produced a human species with biologically based religious capacity. The model of the sequential emergence of religious capacity relies on cognitive science, neuroscience, paleoneurology, primate field studies, cognitive archaeology, genomics, and population genetics. And, it emphasizes five trait types: (1) Documented, positive selection of sensory capabilities on the human line may have favored survival, but also eventually enriched human religious experience. (2) The bonobo model suggests a possible down-regulation of aggression and increase in tolerance while feeding, as well as paedomorphism – but, in a human species that remains cognitively sharp (unlike the bonobo). The two species emerged from the same ancient ape population, so it is logical to search for shared traits. (3) An up-regulation of emotional sensitivity and compassion seems to have occurred on the human line. This finds support in modern genetic studies. (4) The authors’ published model of morality's emergence in Homo erectus encompasses a cognitively based, decision-making capacity that was hypothetically overtaken, in part, by religious capacity. Together, they produced a strong, variable, biocultural capability to support human sociability. (5) The full flowering of human religious capacity came with the parietal expansion and smaller face (klinorhynchy) found only in Homo sapiens. Details from paleoneurology suggest the stage was set for human theologies. Larger parietal lobes allowed humans to imagine inner spaces, processes, and beings, and, with the frontal lobe, led to the first theologies composed of structured and integrated theories of the relationships between humans and the supernatural. The model leads to the evolution of a small population of African hominins that was ready to emerge with religious capacity when the species Homo sapiens evolved two hundred thousand years ago. By 50-60,000 years ago, when human ancestors left Africa, they were fully enabled.

Keywords: genetic drift, genomics, parietal expansion, religious capacity

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Authors: Fábio A. S. Mota, Mauro A. S. S. Ravagnani, E. P. Carvalho

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In the present paper the design of plate heat exchangers is formulated as an optimization problem considering two mathematical modeling. The number of plates is the objective function to be minimized, considering implicitly some parameters configuration. Screening is the optimization method used to solve the problem. Thermal and hydraulic constraints are verified, not viable solutions are discarded and the method searches for the convergence to the optimum, case it exists. A case study is presented to test the applicability of the developed algorithm. Results show coherency with the literature.

Keywords: plate heat exchanger, optimization, modeling, simulation

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Authors: Owonikoko Abayomi Dele

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Epilepsy is an unresolved disease that needs urgent attention. It is a brain disorder that affects over sixty-five (65) million people around the globe. Despite the availability of commercial anti-epileptic drugs, the war against this unmet condition is yet to be resolved. Most epilepsy patients are resistant to available anti-epileptic medications thus the need for affordable novel therapy against epilepsy is a necessity. Numerous phytochemicals have been reported for their potency, efficacy and safety as therapeutic agents against many diseases. This study investigated 99 isolated phytochemicals from Chasmanthera dependens and Carissa edulis against carbonic anhydrase (ii) drug target. The absorption, distribution, metabolism, excretion and toxicity (ADMET) of the isolated compounds were examined using admet SAR-2 web server while Swiss ADME was used to analyze the oral bioavailability, drug-likeness and lead-likeness properties of the selected leads. PASS web server was used to predict the biological activities of selected leads while other important physicochemical properties and interactions of the selected leads with the active site of the target after successful molecular docking simulation with the pyrx virtual screening tool were also examined. The results of these study identified seven lead compounds; C49- alpha-carissanol (-7.6 kcal/mol), C13- Catechin (-7.4 kcal/mol), C45- Salicin (-7.4 kcal/mol), C6- Bisnorargemonine (-7.3 kcal/mol), C36- Pallidine (-7.1 kcal/mol), S4- Lacosamide (-7.1 kcal/mol), and S7- Acetazolamide (-6.4 kcal/mol) for CA II (3HS4 receptor). These leads compounds are probable inhibitors of this drug target due to the observed good binding affinities and favourable interactions with the active site of the drug target, excellent ADMET profiles, PASS Properties, drug-likeness, lead-likeness and oral bioavailability properties. The identified leads have better binding energies as compared to the binding energies of the two standards. Thus, seven identified lead compounds can be developed further towards the development of new anti-epileptic medications.

Keywords: drug-likeness, phytochemicals, carbonic anhydrases, metalloeazymes, active site, ADMET

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Authors: Tsu-Yin Wu, Jenni Hoffman, Lydia McMurrows, Sarah Lally

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Recent events of the Flint Water Crisis and elevated lead levels in Detroit public school water have highlighted a specific public health disparity and shown the need for better education of healthcare providers on lead education. Identifying children and pregnant women with a high risk for lead poisoning and ensuring lead testing is completed is critical. The purpose of this study is to explore the impact of an educational intervention on knowledge and confidence levels among nursing students enrolled in the prelicensure Bachelor of Science in Nursing (BSN) and Registered Nurse to BSN program (R2B). The study used both quantitative and qualitative research methods to assess the impact of multi-modal pedagogy on knowledge and confidence of lead screening and prevention among prelicensure and R2B nursing students. The students received lead poisoning and prevention content in addition to completing an e-learning module developed by the Pediatric Environmental Health Specialty Units. A total of 115 students completed the pre-and post-test instrument that consisted of demographic, lead knowledge, and confidence items. Despite the increase of total knowledge, three dimensions of lead poisoning, and confidence from pre- to post-test scores for both groups, there was no statistical significance on the increase between prelicensure and R2B students. Thematic analysis of qualitative data showed five themes from participants' learning experiences: lead exposure, signs and symptoms of lead poisoning, screening and diagnosis, prevention, and policy and statewide issues. The study is limited by a small sample and participants recalling some correct answers from the pretest, thus, scoring higher on the post-test. The results contribute to the minimally existent literature examining a critical public health concern regarding lead health exposure and prevention education of nursing students. Incorporating such content area into the nursing curriculum is essential in ensuring that such public health disparities are mitigated.

Keywords: lead poisoning, emerging public health issue, community health, nursing edducation

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Authors: Andreea D. Șerban, Răzvan Mălăncuș, Mihaela Ivancia, Șteofil Creangă

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Just as air influences the quality of life in the terrestrial environment, water, as a living environment, is one of great importance when it comes to the quality of life of underwater animals, which acquires an even higher degree of importance when analyzing underwater creatures as future products for human consumption. Thus, going beyond the ideal environment, in which all water quality parameters are permanently in perfect standards for reproduction, growth, and development of fish material and customizing this study to reality, it was demonstrated the importance of reproduction, development, and growth of biological material, necessary in the population fish farms, in the same environment to gain the maximum yield that a fish farm can offer. The biological material used was harvested from 3 fish farms located at great distances from each other to have environments with different parameters. The specimens were clinically healthy at 2 years of age. Thus, the differences in water quality parameters had effects on specimens from other environments, describing large curves in their evolution in new environments. Another change was observed in the new environment, the specimens contributing with the "genetic package" to its modification, tending to a balance of the parameters studied to the values in the environment in which they lived until the time of the experiment. The study clearly showed that adaptability to the environment in which an individual has developed and grown is not valid in environments with different parameters, resulting even in the fatality of one sample during the experiment. In some specimens, the values of the studied hematological parameters were halved after the transfer to the new environment, and in others, the same parameters were doubled. The study concludes that the specimens were adapted to the environment in which they developed and grew, their descendants having a higher value of heritability only in the initial environment. It is known that heritability is influenced 50% by the genetic package of the individual and 50% by the environment, by removing the value of the environment, the duration of improvement of characters of interest will be shorter and the maximum yield of fish farms can be achieved in a smaller period.

Keywords: environment, heritability, quality, water

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Authors: Morteza Taherinezhad, Ahmad Reza Rabbani, Morteza Asemani, Rudy Swennen

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Oil-oil correlation is one of the most important issues in geochemical studies that enables to classify oils genetically. Oil-oil correlation is generally estimated based on non-polar fractions of crude oil (e.g., saturate and aromatic compounds). Despite several advantages, the drawback of using these compounds is their susceptibility of being affected by secondary processes. The polar fraction of crude oil (e.g., asphaltenes) has similar characteristics to kerogen, and this structural similarity is preserved during migration, thermal maturation, biodegradation, and water washing. Therefore, these structural characteristics can be considered as a useful correlation parameter, and it can be concluded that asphaltenes from different reservoirs with the same genetic signatures have a similar origin. Hence in this contribution, an integrated study by using both non-polar and polar fractions of oil was performed to use the merits of both fractions. Therefore, five oil samples from oil fields in the Persian Gulf were studied. Structural characteristics of extracted asphaltenes were investigated by Fourier transform infrared (FTIR) spectroscopy. Graphs based on aliphatic and aromatic compounds (predominant compounds in asphaltenes structure) and sulphoxide and carbonyl functional groups (which are representatives of sulphur and oxygen abundance in asphaltenes) were used for comparison of asphaltenes structures in different samples. Non-polar fractions were analyzed by GC-MS. The study of asphaltenes showed the studied oil samples comprise two oil families with distinct genetic characteristics. The first oil family consists of Salman and Reshadat oil samples, and the second oil family consists of Resalat, Siri E, and Siri D oil samples. To validate our results, biomarker parameters were employed, and this approach completely confirmed previous results. Based on biomarker analyses, both oil families have a marine source rock, whereby marl and carbonate source rocks are the source rock for the first and the second oil family, respectively.

Keywords: biomarker, non-polar fraction, oil-oil correlation, petroleum geochemistry, polar fraction

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Authors: A. S. Vidyashree, C. M. Kalleshwaraswamy, R. Asokan, H. M. Mahadevaswamy

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Termites are very vital ecological thespians in tropical ecosystem, having been designated as “ecosystem engineers”, due to their significant role in providing soil ecosystem services. Despite their importance, our understanding of a number of their basic biological processes in termites is extremely limited. Developing a better understanding of termite biology is closely dependent upon consistent species identification. At present, identification of termites is relied on soldier castes. But for many species, soldier caste is not reported, that creates confusion in identification. The use of molecular markers may be helpful in estimating phylogenetic relatedness between the termite species and estimating genetic differentiation among local populations within each species. To understand this, termites samples were collected from various places of Western Ghats covering four states namely Karnataka, Kerala, Tamil Nadu, Maharashtra during 2013-15. Termite samples were identified based on their morphological characteristics, molecular characteristics, or both. Survey on the termite fauna in Karnataka, Kerala, Maharashtra and Tamil Nadu indicated the presence of a 16 species belongs to 4 subfamilies under two families viz., Rhinotermitidae and Termitidae. Termititidae was the dominant family which was belonging to 4 genera and four subfamilies viz., Macrotermitinae, Amitermitinae, Nasutitermitinae and Termitinae. Amitermitinae had three species namely, Microcerotermes fletcheri, M. pakistanicus and Speculitermes sinhalensis. Macrotermitinae had the highest number of species belonging two genera, namely Microtermes and Odontotermes. Microtermes genus was with only one species i.e., Microtermes obesi. The genus Odontotermes was represented by the highest number of species (07), namely, O. obesus was the dominant (41 per cent) and the most widely distributed species in Karnataka, Karala, Maharashtra and Tamil nadu followed by O. feae (19 per cent), O.assmuthi (11 per cent) and others like O. bellahunisensis O. horni O. redemanni, O. yadevi. Nasutitermitinae was represented by two genera namely Nasutitermes anamalaiensis and Trinervitermes biformis. Termitinae subfamily was represented by Labiocapritermes distortus. Rhinotermitidae was represented by single subfamily Heterotermetinae. In Heterotermetinae, two species namely Heterotermes balwanthi and H. malabaricus were recorded. Genetic relationship among termites collected from various locations of Western Ghats of India was characterized based on mitochondrial DNA sequences (12S, 16S, and COII). Sequence analysis and divergence among the species was assessed. These results suggest that the use of both molecular and morphological approaches is crucial in ensuring accurate species identification. Efforts were made to understand their evolution and to address the ambiguities in morphological taxonomy. The implication of the study in revising the taxonomy of Indian termites, their characterization and molecular comparisons between the sequences are discussed.

Keywords: isoptera, mitochondrial DNA sequences, rhinotermitidae, termitidae, Western ghats

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Authors: Li Shihao, Dieter Trau

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Bilirubin is a yellow substance that is made when the body breaks down old red blood cells. High levels of bilirubin can cause jaundice, a condition that makes the newborn's skin and the white part of the eyes look yellow. Jaundice is a serial-killer in developing countries in Southeast Asia such as Myanmar and most parts of Africa where jaundice screening is largely unavailable. Worldwide, 60% of newborns experience infant jaundice. One in ten will require therapy to prevent serious complications and lifelong neurologic sequelae. Limitations of current solutions: - Blood test: Blood tests are painful may largely unavailable in poor areas of developing countries, and also can be costly and unsafe due to the insufficient investment and lack of access to health care systems. - Transcutaneous jaundice-meter: 1) can only provide reliable results to caucasian newborns, due to skin pigmentations since current technologies measure bilirubin by the color of the skin. Basically, the darker the skin is, the harder to measure, 2) current jaundice meters are not affordable for most underdeveloped areas in Africa like Kenya and Togo, 3) fat tissue under the skin also influences the accuracy, which will give overestimated results, 4) current jaundice meters are not reliable after treatment (phototherapy) because bilirubin levels underneath the skin will be reduced first, while overall levels may be quite high. Thus, there is an urgent need for a low-cost non-invasive device, which can be effective not only for caucasian babies but also Asian and African newborns, to save lives at the most vulnerable time and prevent any complications like brain damage. Instead of measuring bilirubin on skin, we proposed a new method to do the measurement on the sclera, which can avoid the difference of skin pigmentations and ethnicities, due to the necessity for the sclera to be white regardless of racial background. This is a novel approach for measuring bilirubin by an optical method of light reflection off the white part of the eye. Moreover, the device is connected to a smart device, which can provide a user-friendly interface and the ability to record the clinical data continuously A disposable eye cap will be provided avoiding contamination and fixing the distance to the eye.

Keywords: Jaundice, bilirubin, non-invasive, sclera

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Authors: Daina Jonkus, Solvita Petrovska, Dace Smiltina, Lasma Cielava

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The beta-lactoglobulin and kappa-casein are milk proteins which are important for milk composition. Cows with beta-lactoglobulin and kappa-casein gene BB genotypes have highest milk crude protein and fat content. The aim of the study was to determinate the frequencies of milk protein gene polymorphisms in local Latvian Brown (LB) cows breed and analyze the influence of beta-lactoglobulin and kappa-casein genotypes to milk productivity traits. 102 cows’ genotypes of milk protein genes were detected using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) and electrophoresis on 3% agarose gel. For beta-lactoglobulin were observed 2 types of alleles A and B and for kappa-casein 3 types: A, B and E. Highest frequency in beta-lactoglobulin gene was observed for B allele – 0.926. Molecular analysis of beta-lactoglobulin gene shows 86.3% of individuals are homozygous by B allele and animals are with genotypes BB and 12.7% of individuals are heterozygous with genotypes AB. The highest milk yield 4711.7 kg was for 1st lactation cows with AB genotypes, whereas the highest milk protein content (3.35%) and fat content (4.46 %) was for BB genotypes. Analysis of the kappa-casein locus showed a prevalence of the A allele – 0.750. The genetic variant of B was characterized by a low frequency – 0.240. Moreover, the frequency of E occurred in the LB cows’ population with very low frequency – 0.010. 54.9 % of cows are homozygous with genotypes AA, and only 4.9 % are homozygous with genotypes BB. 32.8 % of individuals are heterozygous with genotypes AB, and 2.0 % are with AE. The highest milk productivity was for 1st lactation cows with AB genotypes: milk yield 4620.3 kg, milk protein content 3.39% and fat content 4.53 %. According to the results, in local Latvian brown there are only 2.9% of cows are with BB-BB genotypes, which is related to milk coagulation ability and affected cheese production yield. Acknowledgment: the investigation is supported by VPP 2014-2017 AgroBioRes Project No. 3 LIVESTOCK.

Keywords: beta-lactoglobulin, cows, genotype frequencies, kappa-casein

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Authors: Cornelia-Eugenia Munteanu

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The goal of this paper is to present the diagnostic contribution that the screening instrument, Mini-Mental State Examination-2: Expanded Version (MMSE-2:EV), brings in detecting the cognitive impairment or in monitoring the progress of degenerative disorders. The diagnostic signification is underlined by the interpretation of the MMSE-2:EV scores, resulted from the test application to patients with mild and major neurocognitive disorders. The original MMSE is one of the most widely used screening tools for detecting the cognitive impairment, in clinical settings, but also in the field of neurocognitive research. Now, the practitioners and researchers are turning their attention to the MMSE-2. To enhance its clinical utility, the new instrument was enriched and reorganized in three versions (MMSE-2:BV, MMSE-2:SV and MMSE-2:EV), each with two forms: blue and red. The MMSE-2 was adapted and used successfully in Romania since 2013. The cases were selected from current practice, in order to cover vast and significant neurocognitive pathology: mild cognitive impairment, Alzheimer’s disease, vascular dementia, mixed dementia, Parkinson’s disease, conversion of the mild cognitive impairment into Alzheimer’s disease. The MMSE-2:EV version was used: it was applied one month after the initial assessment, three months after the first reevaluation and then every six months, alternating the blue and red forms. Correlated with age and educational level, the raw scores were converted in T scores and then, with the mean and the standard deviation, the z scores were calculated. The differences of raw scores between the evaluations were analyzed from the point of view of statistic signification, in order to establish the progression in time of the disease. The results indicated that the psycho-diagnostic approach for the evaluation of the cognitive impairment with MMSE-2:EV is safe and the application interval is optimal. The alternation of the forms prevents the learning phenomenon. The diagnostic accuracy and efficient therapeutic conduct derive from the usage of the national test norms. In clinical settings with a large flux of patients, the application of the MMSE-2:EV is a safe and fast psycho-diagnostic solution. The clinicians can draw objective decisions and for the patients: it doesn’t take too much time and energy, it doesn’t bother them and it doesn’t force them to travel frequently.

Keywords: MMSE-2, dementia, cognitive impairment, neuropsychology

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Authors: Sandra Smieszek, Jonathan Haines

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Introduction: Numerous research efforts have focused on searching for ‘longevity genes’. However, attempting to decipher the genetic component of the longevous phenotype have resulted in limited success and the mechanisms governing longevity remain to be explained. We conducted a genome-wide homozygosity analysis (GWHA) of the founder population of the Amish community in central Ohio. While genome-wide association studies using unrelated individuals have revealed many interesting longevity associated variants, these variants are typically of small effect and cannot explain the observed patterns of heritability for this complex trait. The Amish provide a large cohort of extended kinships allowing for in depth analysis via family-based approach excellent population due to its. Heritability of longevity increases with age with significant genetic contribution being seen in individuals living beyond 60 years of age. In our present analysis we show that the heritability of longevity is estimated to be increasing with age particularly on the paternal side. Methods: The present analysis integrated both phenotypic and genotypic data and led to the discovery of a series of variants, distinct for stratified populations across ages and distinct for paternal and maternal cohorts. Specifically 5437 subjects were analyzed and a subset of 893 successfully genotyped individuals was used to assess CHIP heritability. We have conducted the homozygosity analysis to examine if homozygosity is associated with increased risk of living beyond 90. We analyzed AMISH cohort genotyped for 614,957 SNPs. Results: We delineated 10 significant regions of homozygosity (ROH) specific for the age group of interest (>90). Of particular interest was ROH on chromosome 13, P < 0.0001. The lead SNPs rs7318486 and rs9645914 point to COL4A2 and our lead SNP. COL25A1 encodes one of the six subunits of type IV collagen, the C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. The second region of interest points to IRS2. Furthermore we built a classifier using the obtained SNPs from the significant ROH region with 0.945 AUC giving ability to discriminate between those living beyond to 90 years of age and beyond. Conclusion: In conclusion our results suggest that a history of longevity does indeed contribute to increasing the odds of individual longevity. Preliminary results are consistent with conjecture that heritability of longevity is substantial when we start looking at oldest fifth and smaller percentiles of survival specifically in males. We will validate all the candidate variants in independent cohorts of centenarians, to test whether they are robustly associated with human longevity. The identified regions of interest via ROH analysis could be of profound importance for the understanding of genetic underpinnings of longevity.

Keywords: regions of homozygosity, longevity, SNP, Amish

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Authors: Sima Parvizi Omran, Rezvan Tavakoli, Mahnaz Safari, Mohammadreza Aghasadeghi, Abolfazl Fateh, Pooneh Rahimi

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Background: SARS-CoV-2, a single-stranded RNA betacoronavirus causes the global outbreak of coronavirus disease 2019 (COVID-19). Several clinical and scientific concerns are raised by this pandemic. Genetic factors can contribute to pathogenesis and disease susceptibility. There are single nucleotide polymorphisms (SNPs) in many of the genes in the immune system that affect the expression of specific genes or functions of some proteins related to immune responses against viral infections. In this study, we analyzed the impact of polymorphism in the interferon alpha and beta receptor subunit 2 (IFNAR2) and dipeptidyl peptidase 9 (Dpp9) genes and clinical parameters on the susceptibility and resistance to Coronavirus disease (COVID-19). Methods: A total of 330- SARS-CoV-2 positive patients (188 survivors and 142 nonsurvivors) were included in this study. All single-nucleotide polymorphisms (SNPs) on IFNAR2 (rs2236757) and Dpp9 (rs2109069) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: In survivor patients, the frequency of the favourable genotypes of IFNAR2 SNP (rs2236757 GC) was significantly higher than in nonsurvivor patients, and also Dpp9 (rs2109069 AT) genotypes were associated with the severity of COVID-19 infection. Conclusions: This study demonstrated that the severity of COVID- 19 patients was strongly associated with clinical parameters and unfavourable IFNAR2, Dpp9 SNP genotypes. In order to establish the relationship between host genetic factors and the severity of COVID-19 infection, further studies are needed in multiple parts of the world.

Keywords: SARS-CoV-2, COVID-19, interferon alpha and beta receptor subunit 2, dipeptidyl peptidase 9, single-nucleotide polymorphisms

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Authors: Valbona Sota, Efigjeni Kongjika

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Wild almond is a woody species, which is difficult to propagate either generatively by seed or by vegetative methods (grafting or cuttings) and also considered as Endangered (EN) in Albania based on IUCN criteria. As a wild relative of cultivated fruit trees, this species represents a source of genetic variability and can be very important in breeding programs and cultivation. For this reason, it would be of interest to use an effective method of in vitro mid-term conservation, which involves strategies to slow plant growth through physicochemical alterations of in vitro growth conditions. Multiplication of wild almond was carried out using zygotic embryos, as primary explants, with the purpose to develop a successful propagation protocol. Results showed that zygotic embryos can proliferate through direct or indirect organogenesis. During subculture, stage was obtained a great number of new plantlets identical to mother plants derived from the zygotic embryos. All in vitro plantlets obtained from subcultures underwent in vitro conservation by minimal growth in low temperature (4ºC) and darkness. The efficiency of this technique was evaluated for 3, 6, and 10 months of conservation period. Maintenance in these conditions reduced micro cuttings growth. Survival and regeneration rates for each period were evaluated and resulted that the maximal time of conservation without subculture on 4ºC was 10 months, but survival and regeneration rates were significantly reduced, specifically 15.6% and 7.6%. An optimal period of conservation in these conditions can be considered the 5-6 months storage, which can lead to 60-50% of survival and regeneration rates. This protocol may be beneficial for mass propagation, mid-term conservation, and for genetic manipulation of wild almond.

Keywords: micropropagation, minimal growth, storage, wild almond

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Authors: Rachmat Mauludin, Dita Sasri Primaviri, Irda Fidrianny

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Propolis contains several antioxidant compounds which can be used in topical application to protect skin against free radical, prevent skin cancer and skin aging. Previous study showed that 70% ethanolic extract of propolis (EEP) provided the greatest antioxidant activity. Since EEP has very small solubility in water, the extract was prepared in nanoemulsion (NE). Nanoemulsion is chosen as cosmetic dosage forms according to its properties namely to decrease the risk of skin’s irritation, increase penetration, prolong its time to remain in our skin, and improve stability. Propolis was extracted using reflux methods and concentrated using rotavapor. EEP was characterized with several tests such as phytochemical screening, density, and antioxidant activity using DPPH method. Optimation of total surfactant, co-surfactant, oil, and amount of EEP that can be included in NE were required to get the best NE formulation. The evaluations included to organoleptic observation, globul size, polydispersity index, morphology using TEM, viscosity, pH, centrifuge, stability, Freeze and Thaw test, radical scavenging activity using DPPH method, and primary irritation test. The yield extracts was 11.12% from raw propolis contained of steroid/triterpenoid, flavonoid, and saponin based on phytochemical screening. EEP had the value of DPPH scavenging activity 61.14% and IC50 0.41629 ppm. The best NE formulation consisted of 26.25% Kolliphor RH40; 8.75% glycerine; 5% rice bran oil; and 3% EEP. NE was transparant, had globul size of 21.9 nm; polydispersity index of 0.338; and pH of 5.67. Based on TEM morphology, NE was almost spherical and has particle size below 50 nm. NE propolis revealed to be physically stable after stability test within 63 days at 25oC, centrifuged for 30 mins at 13.000 rpm, and passed 6 cycles of Freeze and Thaw test without separated. NE propolis reduced 58% of free radical DPPH similar to antioxidant activity of the original extracts. Antioxidant activity of NE propolis is relatively stable after stored for 6 weeks. NE Propolis was proven to be safe by primary irritation test with the value of primary irritation index (OECD) was 0. The best formulation for NE propolis contained of 26.25% Kolliphor RH40; 8.75% glycerine; 5% rice bran oil; and 3% EEP with globul size of 21.9 nm and polydispersity index of 0.338. NE propolis was stable and had antioxidant activity similar to EEP.

Keywords: propolis, antioxidant, nanoemulsion, irritation test

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Authors: Makhosi Buthelezi

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Mitochondrial DNA cytochrome c oxidase I (COI) gene analyses linked the South African groundnut leaf miner (GLM) to the Australian soya bean moth Aproaerema simplexella (Walker) and Indian Aproaerema modicella (Deventer). Thus, the genetic relatedness of GLM, A. simplexela, and A. modicella was examined by performing mitochondrial and nuclear (COI, cytochrome oxidase subunit II (COII), mitochondrial cytochrome b (CYTB), nuclear ribosomal 28S (28S) and intergenic spacer elongation factor-1 alpha ( EF-1 ALPHA) on 44 specimens collected from South Africa, four from Mozambique, and three each from single locations in India and Australia. Phylogenetic analyses were conducted using the Maximum Parsimony (MP) and Neighbour-Joining (NJ) methods. All of the datasets of the five DNA gene regions that were sequenced were also analyzed using the Basic Local Alignment Search Tool (BLAST) to find the closest matches for inclusion in the phylogenetic trees as outgroups and for purposes of information. In the phylogenetic trees for COI, COII, cytb and EF-1 ALPHA, a similar pattern was observed in the way that the sequences assembled into different groups; i.e., some sequences of A. simplexella from Australia were grouped separately from the others, but some Australian sequences grouped with those of the GLM from South Africa, India, and Mozambique. In the phylogenetic tree for 28S, all sequences from South Africa, Australia, India, and Mozambique grouped together and formed one group. For COI, genetic pairwise distance ranged from 0.97 to 3.60 %, for COII it ranged from 0.19% to 2.32%, for cytb it ranged from 0.25 to 9.77% and for EF-1 ALPHA it ranged 0.48 to 6.99%. Results of this study indicate that these populations are genetically related and presumably constitute a single species. Thus, further molecular and morphological studies need to be undertaken in order to resolve this apparent conundrum on the taxonomy of these populations.

Keywords: aproaerema modicella, aproaerema simplexella, mitochondrial DNA, nuclear DNA

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Authors: Y. Mohammed, A. I. Kabuga

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Sexually transmitted infections (STIs) have continued to be a major public health problem in sub-Saharan Africa especially with the recent resurgence of syphilis. Syphilis is a systemic disease caused by the bacterium, spirochete Treponema pallidum and has been reported as one of the common sexually transmitted infections (STIs) in Nigeria. Presence of genital ulcer disease from syphilis facilitates human immunodeficiency virus (HIV) transmission and their ¬diagnosis is essential for the proper management. Venereal Disease Research Laboratory (VDRL) test is used as a screening test for the diagnosis of syphilis. However, unusual VDRL test results have been reported in HIV-infected persons with syphilis. There are reports showing higher than expected VDRL titers as well as biological false positive in most of the studies. A negative Rapid Plasma Reagin (RPR) test or VDRL test result may not rule out syphilis in patients with HIV infection. For laboratory confirmation of syphilis, one specific Treponemal test, namely, Fluroscent Treponemal Antibody Absorption (FTA-ABS) test or Treponema Pallidum Haemagglutination Assay (TPHA) should be done along with VDRL. A prospective cross sectional study was conducted for 2 years from Jun, 2012 to Jun 2014 to determine the prevalence of syphilis in HIV-seroreactive patients at 5 selected HIV/AIDS treatment and counseling centers in Kano State, North Western, Nigeria. New HIV-Seroreactive patients who gave informed consent to participate in the study were recruited. Venereal Diseases Research Laboratory (VDRL) test for Syphilis screening was performed on the same sera samples which were collected for HIV testing. A total of 238 patients, 113 (47%) males and 125 (53%) females, were enrolled. In the present study, 238 HIV-seropositive patients were screened for syphilis by VDRL test. Out of these 238 cases, 72 (32%) patients were positive for TPHA and 8 (3.4%) patients were reactive for VDRL in various titers with an overall prevalence of 3.4%. All the eight patients who were reactive for VDRL test were also positive for TPHA test. In Conclusions, with high prevalence of syphilis among HIV-infected people from this study, it is recommended that serological testing for syphilis should be carried out in all patients with newly diagnosed HIV infection. Detection and treatment of STI should have a central role in HIV prevention and control. This will help in proper management of patients having STIs and HIV co infection.

Keywords: HIV, infections, STIs, syphilis

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Authors: Akane Uda, Ami Tabata, Mi An, Misa Komaki, Ryotaro Ito, Mayumi Inoue, Takehiro Sasai, Yusuke Kusano, Toshihiro Kato

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Early intervention is recommended for children with autism spectrum disorder (ASD), and an increasing number of children have received support and intervention before school age in recent years. In this study, we systematically reviewed preschool interventions focused on repetitive behaviors observed in children with ASD, which are often observed at younger ages. Inclusion criteria were as follows : (1) Child of preschool status (age ≤ 7 years) with a diagnosis of ASD (including autism, Asperger's, and pervasive developmental disorder) or a parent (caregiver) with a preschool child with ASD, (2) Physician-confirmed diagnosis of ASD (autism, Asperger's, and pervasive developmental disorder), (3) Interventional studies for repetitive behaviors, (4) Original articles published within the past 10 years (2012 or later), (5) Written in English and Japanese. Exclusion criteria were as follows: (1) Systematic reviews or meta-analyses, (2) Conference reports or books. We carefully scrutinized databases to remove duplicate references and used a two-step screening process to select papers. The primary screening included close scrutiny of titles and abstracts to exclude articles that did not meet the eligibility criteria. During the secondary screening, we carefully read the complete text to assess eligibility, which was double-checked by six members at the laboratory. Disagreements were resolved through consensus-based discussion. Our search yielded 304 papers, of which nine were included in the study. The level of evidence was as follows: three randomized controlled trials (level 2), four pre-post studies (level 4b), and two case reports (level 5). Seven articles selected for this study described the effectiveness of interventions. Interventions for repetitive behaviors in preschool children with ASD were categorized as five interventions that directly involved the child and four educational programs for caregivers and parents. Studies that directly intervened with children used early intensive intervention based on applied behavior analysis (Early Start Denver Model, Early Intensive Behavioral Intervention, and the Picture Exchange Communication System) and individualized education based on sensory integration. Educational interventions for caregivers included two methods; (a) education regarding combined methods and practices of applied behavior analysis in addition to classification and coping methods for repetitive behaviors, and (b) education regarding evaluation methods and practices based on children’s developmental milestones in play. With regard to the neurophysiological basis of repetitive behaviors, environmental factors are implicated as possible contributors. We assumed that applied behavior analysis was shown to be effective in reducing repetitive behaviors because analysis focused on the interaction between the individual and the environment. Additionally, with regard to educational interventions for caregivers, the intervention was shown to promote behavioral change in children based on the caregivers' understanding of the classification of repetitive behaviors and the children’s developmental milestones in play and adjustment of the person-environment context led to a reduction in repetitive behaviors.

Keywords: autism spectrum disorder, early intervention, repetitive behaviors, systematic review

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Authors: Willian C. De Brito, Hernan D. C. Munoz, Erlan V. C. Carvalho, Helder L. C. De Oliveira

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In order to improve commute time for small distance trips and relieve large cities traffic, a new transport category has been the subject of research and new designs worldwide. The air taxi travel market promises to change the way people live and commute by using the concept of vehicles with the ability to take-off and land vertically and to provide passenger’s transport equivalent to a car, with mobility within large cities and between cities. Today’s civil air transport remains costly and accounts for 2% of the man-made CO₂ emissions. Taking advantage of this scenario, many companies have developed their own Vertical Take Off and Landing (VTOL) design, seeking to meet comfort, safety, low cost and flight time requirements in a sustainable way. Thus, the use of green power supplies, especially batteries, and fully electric power plants is the most common choice for these arising aircrafts. However, it is still a challenge finding a feasible way to handle with the use of batteries rather than conventional petroleum-based fuels. The batteries are heavy and have an energy density still below from those of gasoline, diesel or kerosene. Therefore, despite all the clear advantages, all electric aircrafts (AEA) still have low flight autonomy and high operational cost, since the batteries must be recharged or replaced. In this sense, this paper addresses a way to optimize the energy consumption in a typical mission of an aerial taxi aircraft. The approach and landing procedure was chosen to be the subject of an optimization genetic algorithm, while final programming can be adapted for take-off and flight level changes as well. A real tilt rotor aircraft with fully electric power plant data was used to fit the derived dynamic equations of motion. Although a tilt rotor design is used as a proof of concept, it is possible to change the optimization to be applied for other design concepts, even those with independent motors for hover and cruise flight phases. For a given trajectory, the best set of control variables are calculated to provide the time history response for aircraft´s attitude, rotors RPM and thrust direction (or vertical and horizontal thrust, for independent motors designs) that, if followed, results in the minimum electric power consumption through that landing path. Safety, comfort and design constraints are assumed to give representativeness to the solution. Results are highly dependent on these constraints. For the tested cases, performance improvement ranged from 5 to 10% changing initial airspeed, altitude, flight path angle, and attitude.

Keywords: air taxi travel, all electric aircraft, batteries, energy consumption, genetic algorithm, landing performance, optimization, performance improvement, tilt rotor, VTOL design

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Authors: Mercy Marimirofa, Farai Machinga, Alfred Zvoushe, Tsitsidzaishe Musvosvi

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The Government of Zimbabwe embarked on integrating family planning with Sexually Transmitted Infection (STI) and Human Immunodeficiency Virus (HIV) services in May 2020 with support from the World Health Organization (WHO). There was high HIV prevalence, incidence rates and STI infections among women attending FP clinics. Spilhaus is a specialized center of excellence clinic which offers a range of sexual reproductive health services. HIV services were limited to testing only, and clients were referred to other facilities for further management. Integration of services requires that all the services be available at one point so that clients will access them during their visit to the facility. Objectives: The study was conducted to assess the impact the one-stop-shop model has made in accessing integrated Family Planning services and sexual reproductive health services compared to the supermarket approach. It also assessed the relationship family planning services have with other sexual reproductive health services. Methods: A secondary data analysis was conducted at Spilhaus clinic in Harare using family planning registers and HIV services registers comparing years 2019 and 2021. A 2 sample t-test was used to determine the difference in clients accessing the services under the two models. A Spearman’s rank correlation was used to determine if accessing family planning services has a relationship with other sexual reproductive health services. Results: In 2019, 7,548 clients visited the Spilhaus clinic compared to 8,265 during the period January to December 2021. The median age for all clients accessing services was 32 years. An increase of 69% in the number of services accessed was recorded from 2019 to 2021. More services were accessed in 2021. There was no difference in the number of clients accessing family planning services cervical cancer, and HIV services. A difference was found in the number of clients who were offered STI screening services. There was also a relationship between accessing family planning services and STI screening services (ρ = 0.729, p-value=0.006). Conclusion: Programming towards SRH services was a great achievement, the use of an integrated approach proved to be cost-effective as it minimised the required resources for separate programs. Clients accessed important health needs at once. The integration of these services provided an opportunity to offer comprehensive information which addressed an individual’s sexual reproductive health needs.

Keywords: intergration, one stop shop, family planning, reproductive health

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Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

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Dilated cardiomyopathy (DCM) is a primary myocardial disease, it is characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility with estimated prevalence of 37 in 100 000 people. It is the most frequent cause of heart failure and cardiac transplantation in young adults. About one-third of all patients have a suspected familial disease indicating a genetic basis of DCM. Many candidate gene studies in humans have tested the association of single nucleotide polymorphisms (SNPs) in various genes coding for proteins with a known cardiovascular function. In our study we present the results of ZBTB17 gene rs10927875 polymorphism genotyping in relation to dilated cardiomyopathy in Slovak population. The study included 78 individuals, 39 patients with DCM and 39 healthy control persons. The mean age of patients with DCM was 50.7±11.5 years; the mean age of individuals in control group was 51.3±9.8 years. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. Genomic DNA was extracted from leukocytes by a standard methodology and screened for rs10927875 polymorphism in intron of ZBTB17 gene using Real-time PCR method (Step One Applied Biosystems). The distribution of investigated genotypes for rs10927875 polymorphism in the group of patients with DCM was as follows: CC (89.74%), CT (10.26%), TT (0%), and the distribution in the control group: CC (92.31%), CT (5.13%), and TT (2.56%). Using the chi-square (χ2) test we compared genotype and allele frequencies between patients and controls. There was no difference in genotype or allele frequencies in ZBTB17 gene rs10927875 polymorphism between patients and control group (χ2=3.028, p=0.220; χ2=0.264, p=0.608). Our results represent an initial study, it can be considered as preliminary and first of its kind in Slovak population. Further studies of ZBTB17 gene polymorphisms of more numerous files and additional functional investigations are needed to fully understand the role of genetic associations.

Keywords: dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene, bioscience

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

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

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

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Authors: Petcharat  Kerdonfag, Surasak Taneepanichskul, Winai Wadwongtham

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Industrial noise is usually considered as the main impact of the environmental health and safety because its exposure can cause permanently serious hearing damage. Despite providing strictly hearing protection standards and campaigning extensively encouraging public health awareness among industrial workers in Thailand, hazard noise-induced hearing loss has dramatically been massive obstacles for workers’ health. The aims of the study were to explore and specify the hearing threshold levels among steel industrial workers responsible in which higher noise levels of work zone and to examine the relationships of hearing loss and workers’ age and the length of employment in Samut Prakan province, Thailand. Cross-sectional study design was done. Ninety-three steel industrial workers in the designated zone of higher noise (> 85dBA) with more than 1 year of employment from two factories by simple random sampling and available to participate in were assessed by the audiometric screening at regional Samut Prakan hospital. Data of doing screening were collected from October to December, 2016 by the occupational medicine physician and a qualified occupational nurse. All participants were examined by the same examiners for the validity. An Audiometric testing was performed at least 14 hours after the last noise exposure from the workplace. Workers’ age and the length of employment were gathered by the developed occupational record form. Results: The range of workers’ age was from 23 to 59 years, (Mean = 41.67, SD = 9.69) and the length of employment was from 1 to 39 years, (Mean = 13.99, SD = 9.88). Fifty three (60.0%) out of all participants have been exposing to the hazard of noise in the workplace for more than 10 years. Twenty-three (24.7%) of them have been exposing to the hazard of noise less than or equal to 5 years. Seventeen (18.3%) of them have been exposing to the hazard of noise for 5 to 10 years. Using the cut point of less than or equal to 25 dBA of hearing thresholds, the average means of hearing thresholds for participants at 4, 6, and 8 kHz were 31.34, 29.62, and 25.64 dB, respectively for the right ear and 40.15, 32.20, and 25.48 dB for the left ear, respectively. The more developing age of workers in the work zone with hazard of noise, the more the hearing thresholds would be increasing at frequencies of 4, 6, and 8 kHz (p =.012, p =.026, p =.024) for the right ear, respectively and for the left ear only at the frequency 4 kHz (p =.009). Conclusion: The participants’ age in the hazard of noise work zone was significantly associated with the hearing loss in different levels while the length of participants’ employment was not significantly associated with the hearing loss. Thus hearing threshold levels among industrial workers would be regularly assessed and needed to be protected at the beginning of working.

Keywords: hearing threshold levels, hazard of noise, hearing loss, audiometric testing

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Authors: I. Kade Wiratama

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As a result of the significant growth of wind turbines in size, blade load control has become the main challenge for large wind turbines. Many advanced techniques have been investigated aiming at developing control devices to ease blade loading. Amongst them, trailing edge flaps have been proven as effective devices for load alleviation. The present study aims at investigating the potential benefits of flaps in enhancing the energy capture capabilities rather than blade load alleviation. A software tool is especially developed for the aerodynamic simulation of wind turbines utilising blades equipped with flaps. As part of the aerodynamic simulation of these wind turbines, the control system must be also simulated. The simulation of the control system is carried out via solving an optimisation problem which gives the best value for the controlling parameter at each wind turbine run condition. Developing a genetic algorithm optimisation tool which is especially designed for wind turbine blades and integrating it with the aerodynamic performance evaluator, a design optimisation tool for blades equipped with flaps is constructed. The design optimisation tool is employed to carry out design case studies. The results of design case studies on wind turbine AWT 27 reveal that, as expected, the location of flap is a key parameter influencing the amount of improvement in the power extraction. The best location for placing a flap is at about 70% of the blade span from the root of the blade. The size of the flap has also significant effect on the amount of enhancement in the average power. This effect, however, reduces dramatically as the size increases. For constant speed rotors, adding flaps without re-designing the topology of the blade can improve the power extraction capability as high as of about 5%. However, with re-designing the blade pretwist the overall improvement can be reached as high as 12%.

Keywords: flaps, design blade, optimisation, simulation, genetic algorithm, WTAero

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