Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Zate Zewdneh Zana

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Coffea arabica (Arabica coffee), a cornerstone of the global beverage industry, necessitates rigorous genetic conservation due to its economic significance and genetic complexity. In this study, we performed whole-genome resequencing of wild species collected from its birthplace, Ethiopia. Advanced Illumina sequencing technology facilitated the mapping of a high percentage of clean reads to the C. arabica reference genome, revealing a substantial number of genetic variants, predominantly SNPs. Our comprehensive analysis not only uncovered a notable distribution of genomic variants across the coffee genome but also identified distinct genetic groups through phylogenetic and population structure analyses. This genomic study provides invaluable insights into the genetic diversity of C. arabica, highlighting the potential of identified SNPs and InDels in enhancing our understanding of key agronomic traits. The findings contribute significantly to genetic studies and support strategic breeding and conservation efforts essential for sustaining the global coffee industry.

Keywords: population genetics, wild species, evolutionary study, coffee plant

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Authors: Hamed Alizadeh Dashagholi, Hossein Yousefi-Banaem, Mina Naeimi

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Current study established for EEG signal analysis in patients with language disorder. Language disorder can be defined as meaningful delay in the use or understanding of spoken or written language. The disorder can include the content or meaning of language, its form, or its use. Here we applied Z-score, power spectrum, and coherence methods to discriminate the language disorder data from healthy ones. Power spectrum of each channel in alpha, beta, gamma, delta, and theta frequency bands was measured. In addition, intra hemispheric Z-score obtained by scoring algorithm. Obtained results showed high Z-score and power spectrum in posterior regions. Therefore, we can conclude that peoples with language disorder have high brain activity in frontal region of brain in comparison with healthy peoples. Results showed that high coherence correlates with irregularities in the ERP and is often found during complex task, whereas low coherence is often found in pathological conditions. The results of the Z-score analysis of the brain dynamics showed higher Z-score peak frequency in delta, theta and beta sub bands of Language Disorder patients. In this analysis there were activity signs in both hemispheres and the left-dominant hemisphere was more active than the right.

Keywords: EEG, electroencephalography, coherence methods, language disorder, power spectrum, z-score

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Authors: Leandro Moura da Silva

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The international community has strived to create legal mechanisms to protect their biodiversity, but this can represent, sometimes, particularly in the case of regulatory regime on access to genetic resources, an excessive nationalism which transforms itself into a significant obstacle to scientific progress causing damages to the country and to local farmers. Although it has been poorly publicized in the media, the international legal system was marked, in 2014, by the entry into force of the Nagoya Protocol, which regulates the access and benefit sharing of genetic resources of the States Party to that legal instrument. However, it’s not reasonable to think of regulating access to genetic resources without reflecting on the links of this important subject with other related issues, such as family farming and agribusiness, food safety, food security, intellectual property rights (on seeds, genetic material, new plant varieties, etc.), environmental sustainability, biodiversity, and biosafety.

Keywords: international law, regulation on agriculture, agronomy techniques, sustainability, genetic resources and new crop varieties, CBD, Nagoya Protocol, ITPGRFA

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Authors: V. Pourmostaghimi, M. Zadshakoyan

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Efficiency and productivity of the finish hard turning can be enhanced impressively by utilizing accurate predictive models for cutting tool wear. However, the ability of genetic programming in presenting an accurate analytical model is a notable characteristic which makes it more applicable than other predictive modeling methods. In this paper, the genetic equation for modeling of tool flank wear is developed with the use of the experimentally measured flank wear values and genetic programming during finish turning of hardened AISI D2. Series of tests were conducted over a range of cutting parameters and the values of tool flank wear were measured. On the basis of obtained results, genetic model presenting connection between cutting parameters and tool flank wear were extracted. The accuracy of the genetically obtained model was assessed by using two statistical measures, which were root mean square error (RMSE) and coefficient of determination (R²). Evaluation results revealed that presented genetic model predicted flank wear over the study area accurately (R² = 0.9902 and RMSE = 0.0102). These results allow concluding that the proposed genetic equation corresponds well with experimental data and can be implemented in real industrial applications.

Keywords: cutting parameters, flank wear, genetic programming, hard turning

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Authors: Silsila Sherzad, Hazrat Ali Khan, Tabasum Sherzad, Hazratullah, Sanaullah

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Objective: To study the prevalence of common Mental health disorders among forcibly displaced people and to compare with the common mental health disorders among host community members. Study design: Analytical Study. Place of study: Balochistan institute of psychiatry and behavioral sciences, Quetta, Baluchistan, Pakistan. Methodology: Data from the Outpatient department were analyzed to numerate both the host community and refugees. Out of 4120, 354 refugee patients were identified using their proof registration (POR) card and for 3776 of the host community using their computerized national identity card (CNIC), data was analyzed for the prevalence of mental health disorders among them. Results: This study states that Afghan Refugees presented to OPD services of Balochistan institute of psychiatry and behavioral sciences, 47% were diagnosed as Major depressive disorder with/without psychosis, 19% with Generalized anxiety disorder, 5% were diagnosed as Bipolar Affective disorder, 5% With schizophrenia, 4% as Post-traumatic stress disorder, 3% as migraine, 3% conversion disorder, 2% Obsessive-compulsive disorder, 1% somatoform disorder and 10% of them presented with other psychiatric disorders, while in host community 21% were diagnosed as Major depressive disorder with/without psychosis, 24% as Generalized anxiety disorder, 12% as somatoform disorder, 10% as Obsessive-compulsive disorder, 8% as migraine, 7% as conversion disorder, 4% as Bipolar Affective disorder, 3% as schizophrenia, 3% as Mental and behavioral disorder due to substance misuse and rest of 7% presented with other psychiatric disorders. Conclusion: The conclusion of this study states that mental health disorders are more common among refugees than in other populations. The result of this study shows that there is a big difference in the prevalence of mental health disorders among displaced people and the rest of the population. Some Mental health disorders are present in a higher percentage among displaced people rather than among the host community, while some other disorders are present in a lower percentage among displaced people rather than among the host community. This study also highlights that further studies are needed to determine risk and protective factors within the host community.

Keywords: forced displacement, mental health, Afghan refugees, depression

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Authors: Muhammad Zeeshan

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This case study is about a 54 years man named Mr. U, referred to Capital Hospital, Islamabad, with the presenting complaints of Generalized Anxiety Disorder (GAD). Contrary to his complaints, the client reported psychological symptoms such as restlessness, low mood and fear of darkness and fear from closed places from the last 30 days. He also had a fear of death and his existence in the grave. His sleep was also disturbed due to excessive urination due to diabetes. He was also suffering from semantic symptoms such as headache, numbness of feet and pain in the chest and blockage of the nose. A complete history was taken and informal assessment (clinical interview and MSE) and formal testing (BAI) was applied that showed the clear diagnosis of Generalized Anxiety Disorder. CBT, relaxation techniques, prayer chart and behavioural techniques were applied for the treatment purposes.

Keywords: generalized anxiety disorder, presenting complaints, formal and informal assessment, diagnosis

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Authors: Mehdi Mohebodini, Iman Khalili-Baseri, Mehdi Behnamian, Sara Dezhsetan

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Diversity analysis at the molecular level using PCR-based markers is the efficient and rapid method of identifying the relationships and differences among the genotypes. In the present study, genetic diversity and relationships among 20 collected purslane accessions were evaluated using ISSR markers. The genotyping data were used to understand the relationships among the collected accessions and identify genetically diverse purslane accessions. The 25 primers gave a total of 92 bands, of which 62 were polymorphic (67.4%). The genetic diversity as estimated by Shannon’s information index was 0.55, revealing a quite high level of genetic diversity in the germplasm. The average number of an observed allele, effective allele, polymorphic information content (PIC) and Nei’s index were 2, 1.65, 0.37 and 0.37, respectively.

Keywords: Portulaca oleracea L., genetic diversity, ISSR, germplasm

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Authors: Snezana Mugosa, Zoran Todorovic, Zoran Bukumiric, Ivan Radosavljevic, Natasa Djordjevic

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Introduction: Various studies have shown that the frequency of clopidogrel resistance ranges from 4-40%. The aim of this study was to provide in depth analysis of genetic and non-genetic factors that influence clopidogrel resistance in cardiology patients. Methods: We have conducted a prospective study in 200 hospitalized patients hospitalized at Cardiology Centre of the Clinical Centre of Montenegro. CYP2C19 genetic testing was conducted, and the PREDICT score was calculated in 102 out of 200 patients treated with clopidogrel in order to determine the influence of genetic and non-genetic factors on outcomes of interest. Adverse cardiovascular events and adverse reactions to clopidogrel were assessed during 12 months follow up period. Results: PREDICT score and CYP2C19 enzymatic activity were found to be statistically significant predictors of expressing lack of therapeutic efficacy of clopidogrel by multivariate logistic regression, without multicollinearity or interaction between the predictors (p = 0.002 and 0.009, respectively). Conclusions: Pharmacogenetics analyses that were done in the Montenegrin population of patients for the first time suggest that these analyses can predict patient response to the certain therapy. Stepwise approach could be used in assessing the clopidogrel resistance in cardiology patients, combining the PREDICT score, platelet aggregation test, and genetic testing for CYP2C19 polymorphism.

Keywords: clopidogrel, pharmacogenetics, pharmacotherapy, PREDICT score

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Authors: Steffen Illig, Alexander S. Eggeman, Alessandro Troisi, Stephen G. Yeates, John E. Anthony, Henning Sirringhaus

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Large-amplitude intermolecular vibrations in combination with complex shaped transfer integrals generate a thermally fluctuating energetic landscape. The resulting dynamic disorder and its intrinsic presence in organic semiconductors is one of the most fundamental differences to their inorganic counterparts. Dynamic disorder is believed to govern many of the unique electrical and optical properties of organic systems. However, the low energy nature of these vibrations makes it difficult to access them experimentally and because of this we still lack clear molecular design rules to control and reduce dynamic disorder. Applying a novel technique based on electron diffraction we encountered strong intermolecular, thermal vibrations in every single organic material we studied (14 up to date), indicating that a large degree of dynamic disorder is a universal phenomenon in organic crystals. In this paper a new molecular design strategy will be presented to avoid dynamic disorder. We found that small molecules that have their side chains attached to the long axis of their conjugated core have been found to be less likely to suffer from dynamic disorder effects. In particular, we demonstrate that 2,7-dioctyl[1]benzothieno[3,2-b][1]benzothio-phene (C8-BTBT) and 2,9-di-decyl-dinaphtho-[2,3-b:20,30-f]-thieno-[3,2-b]-thiophene (C10DNTT) exhibit strongly reduced thermal vibrations in comparison to other molecules and relate their outstanding performance to their lower dynamic disorder. We rationalize the low degree of dynamic disorder in C8-BTBT and C10-DNTT with a better encapsulation of the conjugated cores in the crystal structure which helps reduce large amplitude thermal motions. The work presented in this paper provides a general strategy for the design of new classes of very high mobility organic semiconductors with low dynamic disorder.

Keywords: charge transport, C8-BTBT, C10-DNTT, dynamic disorder, organic semiconductors, thermal vibrations

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Authors: Mei Chen, Yingping Hou, Michelle Hao, Soheil Aghamohammadzadeh, Esteban Terzo, Roger Clark, Vijay Modur

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Background: Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genetic skin condition characterized by skin tearing and unremitting blistering upon minimal trauma. Repeated blistering, fibrosis, and scarring lead to aggressive squamous cell carcinoma later in life. RDEB is caused by mutations in the COL7A1 gene encoding collagen type VII (C7), the major component of anchoring fibrils mediating epidermis-dermis adherence. Nonsense mutations in the COL7A1 gene of a subset of RDEB patients leads to premature termination codons (PTC). Similarly, most Junctional Epidermolysis Bullosa (JEB) cases are caused by nonsense mutations in the LAMB3 gene encoding the β3 subunit of laminin 332. Currently, there is an unmet need for the treatment of RDEB and JEB. Zikani Therapeutics has discovered an array of macrocyclic compounds with ring structures similar to macrolide antibiotics that can facilitate readthrough activity of nonsense mutations in the COL7A1 and LAMB3 genes by acting as Ribosome Modulating Agents (RMAs). The medicinal chemistry synthetic advancements of these macrocyclic compounds have allowed targeting the human ribosome while preserving the structural elements responsible for the safety and pharmacokinetic profile of clinically used macrolide antibiotics. Methods: C7 expression was used as a measure of readthrough activity by immunoblot assays in two primary human fibroblasts from RDEB patients (R578X/R578X and R163X/R1683X-COL7A1). Similarly, immunoblot assays in C325X/c.629-12T > A-LAMB3 keratinocytes were used to measure readthrough activity for JEB. The relative readthrough activity of each compound was measured relative to Gentamicin. An imaging-based fibroblast migration assay was used as an assessment of C7 functionality in RDEB-fibroblasts over 16-20 hrs. The incubation period for the above experiments was 48 hrs for RDEB fibroblasts and 72 hours for JEB keratinocytes. Results: 9 RMAs demonstrated increased protein expression in both patient RDEB fibroblasts. The highest readthrough activity at tested concentrations without cytotoxicities increased protein expression up to 179% of Gentamicin (400 µg/ml), with favored readthrough activity in R163X/R1683X-COL7A1 fibroblasts. Concurrent with protein expression, fibroblast hypermotility phenotype observed in RDEB was rescued by reducing motility by ~35% to WT levels (the same level as 690 µM Gentamicin treated cells). Laminin β3 expression was also shown to be increased by 6 RMAs in keratinocytes to 33-83% of (400 µg/ml) Gentamicin. Conclusions: To date, 9 RMAs have been identified that enhance the expression of functional C7 in a mutation-dependent manner in two different RDEB patient fibroblast backgrounds (R578X/R578X and R163X/R1683X-COL7A1). A further 6 RMAs have been identified that enhance the readthrough of C325X-LAMB3 in JEB patient keratinocytes. Based on the clinical trial conducted by us with topical gentamycin in 2017, Zikani’s RMAs achieve clinically significant levels of read-through for the treatment of recessive dystrophic and Junctional Epidermolysis Bullosa.

Keywords: epidermolysis bullosa, nonsense mutation, readthrough, ribosome modulation

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Authors: S. A. Khan, B. Mishra, O. Sherchan

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Background and Aims: Thyroid disorder is the most common endocrine disorder after diabetes mellitus. Females are more vulnerable to this disease, and old age is an important risk factor. This study was undertaken to investigate the burden of thyroid disorder in Nepalese postmenopausal women. Methods: In the present cross-sectional study, we included 271 post-menopausal women. Three ml of blood was collected following standard protocol after taking the written consent. Serum was separated and analyzed for free T3, free T4, and Thyroid Stimulating Hormone (TSH) by Chemiluminescence Immunoassay (CLIA) method in Snibe Maglumi 1000 analyzer. Data obtained was analyzed in SPSS Version 21. P < 0.05 was set for statistical significant at 95% Confidence Interval (CI). Results: Majority of the participants belong to Janjati (46.5%) ethnicity, followed by Brahmin/Chhetri (41.7%), residing either in urban or suburban locality. Most of them were non-vegetarian, non-smoker, and non-alcoholic. Subjects were divided into hyperthyroid (TSH < 0.3 uIU/ml), hypothyroid (TSH > 4.5 uIU/ml), and euthyroid (TSH=0.3-4.5 uIU/ml) based on TSH value. We reported 10.3% hyperthyroid and 29.2% hypothyroid cases. TSH was significantly correlated with T3 (r=-0.244; p < 0.001) T4 (r=-0.398; p < 0.001); age (r=-0.138; p=0.023) and BMI (r=0.123; p=0.043). Multiple linear regression model for TSH reveals only T3 and T4 were significantly associated with TSH (p < 0.001; p=0.001). Conclusion: To conclude, nearly 39.5% of the postmenopausal women had thyroid disorder. Postmenopausal women are vulnerable to thyroid disorder; therefore, requires regular thyroid monitoring.

Keywords: thyroid stimulating hormone, TSH, T3, T4, thyroid disorder

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Authors: Manjula Sutagundar, B. G. Sheeparamatti, D. S. Jangamshetti

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Micro Electro Mechanical Systems (MEMS) resonators have shown the potential of replacing quartz crystal technology for sensing and high frequency signal processing applications because of inherent advantages like small size, high quality factor, low cost, compatibility with integrated circuit chips. This paper presents the optimization and modelling and simulation of the optimized micro cantilever resonator. The objective of the work is to optimize the dimensions of a micro cantilever resonator for a specified range of resonant frequency and specific quality factor. Optimization is carried out using genetic algorithm. The genetic algorithm is implemented using MATLAB. The micro cantilever resonator is modelled in CoventorWare using the optimized dimensions obtained from genetic algorithm. The modeled cantilever is analysed for resonance frequency.

Keywords: MEMS resonator, genetic algorithm, modelling and simulation, optimization

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Authors: Prachi Sharma, Mukesh Kumar Rana

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In the present study, the simple sequence repeat(SSR) markers have been used in analysis of genetic diversity of 37 genotypes of Triticum aestivum. The DNA was extracted using cTAB method. The DNA was quantified using the fluorimeter. The annealing temperatures for 27 primer pairs were standardized using gradient PCR, out of which 16 primers gave satisfactory amplification at temperature ranging from 50-62⁰ C. Out of 16 polymorphic SSR markers only 10 SSR primer pairs were used in the study generating 34 reproducible amplicons among 37 genotypes out of which 30 were polymorphic. Primer pairs Xgwm533, Xgwm 160, Xgwm 408, Xgwm 120, Xgwm 186, Xgwm 261 produced maximum percent of polymorphic bands (100%). The bands ranged on an average of 3.4 bands per primer. The genetic relationship was determined using Jaccard pair wise similarity co-efficient and UPGMA cluster analysis with NTSYS Pc.2 software. The values of similarity index range from 0-1. The similarity coefficient ranged from 0.13 to 0.97. A minimum genetic similarity (0.13) was observed between VL 804 and HPW 288, meaning they are only 13% similar. More number of available SSR markers can be useful for supporting the genetic diversity analysis in the above wheat genotypes.

Keywords: wheat, genetic diversity, microsatellite, polymorphism

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Authors: J. Kaabi, Y. Harrath

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This paper studied the flow shop scheduling problem under machine availability constraints. The machines are subject to flexible preventive maintenance activities. The nonresumable scenario for the jobs was considered. That is, when a job is interrupted by an unavailability period of a machine it should be restarted from the beginning. The objective is to minimize the total tardiness time for the jobs and the advance/tardiness for the maintenance activities. To solve the problem, a genetic algorithm was developed and successfully tested and validated on many problem instances. The computational results showed that the new genetic algorithm outperforms another earlier proposed algorithm.

Keywords: flow shop scheduling, genetic algorithm, maintenance, priority rules

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Authors: Wafa’ Alma'Aitah, Khaled Almakadmeh

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this study presents an information retrieval system of using genetic algorithm to increase information retrieval efficiency. Using vector space model, information retrieval is based on the similarity measurement between query and documents. Documents with high similarity to query are judge more relevant to the query and should be retrieved first. Using genetic algorithms, each query is represented by a chromosome; these chromosomes are fed into genetic operator process: selection, crossover, and mutation until an optimized query chromosome is obtained for document retrieval. Results show that information retrieval with adaptive crossover probability and single point type crossover and roulette wheel as selection type give the highest recall. The proposed approach is verified using (242) proceedings abstracts collected from the Saudi Arabian national conference.

Keywords: genetic algorithm, information retrieval, optimal queries, crossover

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Authors: Mohaned G. Abed

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Attention Deficit Hyperactivity Disorder (ADHD) is considered one of the most frequently diagnosed psychiatric childhood disorders. It has an effect on 3–5% of school-aged children, and brings about difficulties in academic and social interaction. This study explored the knowledge and beliefs of parents in Saudi Arabia about children with ADHD. The Knowledge about Attention Deficit Disorder Questionnaire (KADD-Q) was administered to a sample of parents, followed by interviews with a subset of the total respondents. The results indicated that the parents knew more about the characteristics of ADHD than they knew about its related causes and treatment. Overall, the findings indicated that these parents had some knowledge about general characteristics of ADHD, but they had little understanding of causes and possible interventions. These results suggest an important need for more formal parents training regarding all aspects of ADHD in school age children.

Keywords: attention deficit hyperactivity disorder, childhood disorders, school-aged children, difficulties in academic, social interaction

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Authors: Asim Mehmood, Abdul Karim, Muhammad J. Jaskani, Faisal S. Awan, Muhammad W. Sajid

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Guava (Psidium guajava L.) is an important commercial fruit crop of Pakistan. It is an allogamous crop having 25-40% cross pollination which on the one hand leads to clonal degradation and on the other hand can add variations to generated new cultivars. Morpho-genetic characterization of 37 guava accessions was carried out for study of the genetic diversity among guava accessions located in province Punjab, Pakistan. For morphological analysis, 17 morphological traits were studied, and strong positive correlation was found among the 7 morphological traits which included thickness of outer flesh in relation to core diameter, fruit length, fruit width, fruit juiciness, fruit size, fruit sweetness and number of seeds. For genetic characterization, 18 microsatellites were used, and the sizes of reproducible and scorable bands ranged from 150 to 320 bp. These 18 primer pairs amplified a total of 85 alleles in P. guajava, with an average total number of 4.7 alleles per locus and no more than two displayed bands (nuclear SSR loci). The phylogenetic tree based on the morphological and genetic traits showed the diversity of these 37 guava genotypes into two major groups. These results indicated that Pakistani guava is quite diverse and a more detail study is needed to define the level of genetic variability.

Keywords: Psidium guajava L, genetic diversity, SSR markers, polymorphism, dendrogram

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Authors: Shahrzad Yektatalab, Agrin Mohammadi, Ladan Zarshenas

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Background: Misophonia is a severe emotional response to repetitive sounds. This disorder may limit a person's communication, reduce their ability, or disrupt their social and personal life. This study aims to determine the prevalence of Misophonia and its relationship with obsessive-compulsive disorder, anxiety, and depression in undergraduate students of XXX University of Medical Sciences. Methods: The present study is an analytical descriptive study conducted in October 2020. The study samples are 390 undergraduate students of XXX University of medical sciences. A relative and systematic sampling method was used. In this study, a demographic questionnaire, misophonia questionnaire (A score of 7 or higher is considered as misophonia), Beck anxiety questionnaire, Beck depression questionnaire, and Maudsley questionnaire were used, and the data were analyzed using SPSS 24 software. Due to the non-normality of the data, the Spearman correlation coefficient was used for analyzing data. The significance level was considered less than 0.05. Results: 23.8% of students have misophonia. Of the 390 participants in the study, 93 had experienced misophonia. Among these 93 students, 37 (39.8%) had obsessive-compulsive disorder, 8 (8.6%) had anxiety and 9 (9.7%) had depression. There was a significant and direct relationship between all variables (p <0.001), which means that with the increase of each disorder, the probability of an increase in other disorders increases. Conclusion: Due to the high prevalence of misophonia in students and its direct relationship with obsessive-compulsive disorder, anxiety, and depression, It is recommended that future studies be conducted to identify ways to prevent and reduce the incidence of misophonia.

Keywords: misophonia, obsessive-compulsive disorder, anxiety, depression

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Authors: Angelis P. Barlampas

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Objective: The confusion of terms is a common practice in many situations of the everyday life. But, in some circumstances, such as in medicine, the precise meaning of a word curries a critical role for the health of the patient. Fahr disease and Fahr syndrome are often falsely used interchangeably, but they are two different conditions with different physical histories of different etiology and different medical management. A case of the seldom Fahr disease is presented, and a comparison with the more common Fahr syndrome follows. Materials and method: A 72 years old patient came to the emergency department, complaining of some kind of non specific medal disturbances, like anxiety, difficulty of concentrating, and tremor. The problems had a long course, but he had the impression of getting worse lately, so he decided to check them. Past history and laboratory tests were unremarkable. Then, a computed tomography examination was ordered. Results: The CT exam showed bilateral, hyperattenuating areas of heavy, dense calcium type deposits in basal ganglia, striatum, pallidum, thalami, the dentate nucleus, and the cerebral white matter of frontal, parietal and iniac lobes, as well as small areas of the pons. Taking into account the absence of any known preexisting illness and the fact that the emergency laboratory tests were without findings, a hypothesis of the rare Fahr disease was supposed. The suspicion was confirmed with further, more specific tests, which showed the lack of any other conditions which could probably share the same radiological image. Differentiating between Fahr disease and Fahr syndrome. Fahr disease: Primarily autosomal dominant Symmetrical and bilateral intracranial calcifications The patient is healthy until the middle age Absence of biochemical abnormalities. Family history consistent with autosomal dominant Fahr syndrome :Earlier between 30 to 40 years old. Symmetrical and bilateral intracranial calcifications Endocrinopathies: Idiopathic hypoparathyroidism, secondary hypoparathyroidism, hyperparathyroidism, pseudohypoparathyroidism ,pseudopseudohypoparathyroidism, e.t.c The disease appears at any age There are abnormal laboratory or imaging findings. Conclusion: Fahr disease and Fahr syndrome are not the same illness, although this is not well known to the inexperienced doctors. As clinical radiologists, we have to inform our colleagues that a radiological image, along with the patient's history, probably implies a rare condition and not something more usual and prompt the investigation to the right route. In our case, a genetic test could be done earlier and reveal the problem, and thus avoiding unnecessary and specific tests which cost in time and are uncomfortable to the patient.

Keywords: fahr disease, fahr syndrome, CT, brain calcifications

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Authors: S. Gholamrezaei, M. Mehrabizade Honarmand, Y. Zargar

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Introduction: This research was designed to assess the effect of group Interpersonal Psychotherapy on eating disorder symptom and fear of negative evaluation of Lorestan University female students. Materials and Methods: In this experimental study, 641 female students were randomly selected from various faculties of Lorestan University. Eating disorders symptoms and fear of negative evaluation were assessed by the Eating Attitudes Test (EAT-26), and Fear of Negative Evaluation Scale, Leary (FNES-B). Data were analyzed by SPSS software (multivariate analyze tests were used). Results: Interpersonal Psychotherapy can improve the eating disorder symptoms and reduce the fear of negative evaluation in girl students of group control in compare with control group. Conclusion: Interpersonal psychotherapy can be effective for eating disorder symptoms, and fear of negative evaluation among female students. Thus, it is suggested that this kind of psychotherapy was used for other psychological disease.

Keywords: interpersonal psychotherapy, eating disorder, fear of negative evaluation, students

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Authors: Dawit Thomas Lambamo

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Conduct disorder has become a major health and social problem; it is the most common psychiatric problem diagnosed among students which affect the academic and social interaction of students. This intervention was conducted in Dil Betigil primary school. After identifying six students with conduct disorder in Dil Betigil primary school, the intervention was conducted using a true experimental research design specifically pretest and posttest control group design. Data from teachers and parents of the students with conduct disorder were collected using adapted conduct disorder scale and semi-structured interview. The independent sample t-test of Pretest results of both experimental and control group indicated that there is no statistically significant difference between experimental and control groups. Intervention is carried out to enhance their social interaction and to decrees aggressive, a serious violation of rules and theft behavior of students in collaboration with teachers and parents. After six intervention weeks the post-test result showed that there was statistically significant difference in aggression and serious violation between the experimental and control groups, but there was no statistically significant mean difference regarding deceitful or theft between the experimental and control group.

Keywords: conduct, disorder, social interaction, interaction

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Authors: Xiaolian Jiang, Dongling Liu, Kun Liu

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Aims: To examine the prevalence of POST-TRAUMATIC STRESS DISORDER (PTSD) symptoms among Tibetan adolescents in heavily-hit disaster area three years after Yushu earthquake, and to explore the interactions of the psycho-social-genetic risk factors. Methods: This was a three-stage study. Firstly, demographic variables，PTSD Checklist-Civilian Version （PCL-C），the Internality、Powerful other、Chance Scale，（IPC），Coping Style Scale（CSS），and the Social Support Appraisal（SSA）were used to explore the psychosocial factors of PTSD symptoms among adolescent survivors. PCL-C was used to examine the PTSD symptoms among 4072 Tibetan adolescents，and the Structured Clinical Interview for DSM-IV Disorders（SCID）was used by psychiatrists to make the diagnosis precisely. Secondly，a case-control trial was used to explore the relationship between PTSD and gene polymorphisms. 287adolescents diagnosed with PTSD were recruited in study group, and 280 adolescents without PTSD in control group. Polymerase chain reaction-restriction fragment length polymorphism technology（PCR-RFLP）was used to test gene polymorphisms. Thirdly，SPSS 22.0 was used to explore the interactions of the psycho-social-genetic risk factors of PTSD on the basis of the above results. Results and conclusions: 1．The prevalence of PTSD was 9.70%. 2．The predictive psychosocial factors of PTSD included earthquake exposure, support from others, imagine, abreact, tolerant, powerful others and family support. 3．Synergistic interactions between A1 gene of DRD2 TaqIA and the external locus of control, negative coping style, severe earthquake exposure were found. Antagonism interactions between A1 gene of DRD2 TaqIA and poor social support was found. Synergistic interactions between A1/A1 genotype and the external locus of control, negative coping style were found. Synergistic interactions between 12 gene of 5-HTTVNTR and the external locus of control, negative coping style, severe earthquake exposure were found. Synergistic interactions between 12/12 genotype and the external locus of control, negative coping style, severe earthquake exposure were also found.

Keywords: adolescents, earthquake, PTSD, risk factors

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Authors: Famurewa Olumide Joseph, Akinsulore Adesanmi

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The current study investigated aggressive behaviour and its association with substance use disorder among senior secondary school students in Ilesha, Nigeria. Participants were three hundred and seventy-five (375) comprising (212) females and (163) males of senior secondary school students in Ilesa East and Ilesa West; who were randomly selected among the population of students from the schools. The mean age of the respondents was 14.61 years (S.D = 1.16), with 311 (82.9%) between 14 – 16 years. Female respondents were 212 (56.5%), while male respondents were 163 (43.5%). A cross sectional design was adopted. Three instruments were used for data collection. Buss Perry Aggression Questionnaire, Alcohol Use Disorder Identification Test (AUDIT) and Drug Abuse Screening Test (DAST). It was hypothesized that aggressive behaviour will be associated with substance use disorder among senior secondary school students in Ilesa East and Ilesa West. The result indicated that the overall prevalence of substance use disorder was 16.0%. Chi-Square test exploring the association between aggressive behaviour and substance use disorder shows that there is a significant association between aggressive behaviour and substance use disorder (χ2 =8.55, p =0.014). Results also showed that emotional problem (χ2 (2) =13.0; p = 0.001) was statistically significant while current medications intake (χ2 (2) =2.03; p =0.362) and overall wellbeing (χ2 (4) =2.49; p =0.646) were not statistically significant. There is an inverse association between prosocial behaviour and aggressive behaviour (r= -0.037, p>0.05). This indicates that as the level of prosocial behaviour increases, the level of aggressive behaviour among respondents decreases. However, alcohol use had no correlation with aggressive behaviour (r=0.070, p>0.05). Among the implications stated is that factors such as emotional symptoms, conduct problems, hyperactivity, peer problem and drug use contributed to the prevalence of aggressive behaviour among students. Suggestions for further studies were equally made.

Keywords: aggressive behaviour, alcohol, prevalence, students, substance use disorder (SUD)

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Authors: Radhwan Yousif Sedik Al-Jawadi

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Optimization is necessary for finding appropriate solutions to a range of real-life problems. In particular, genetic (or more generally, evolutionary) algorithms have proved very useful in solving many problems for which analytical solutions are not available. In this paper, we present an optimization algorithm called Dynamic Schema with Dissimilarity and Similarity of Chromosomes (DSDSC) which is a variant of the classical genetic algorithm. This approach constructs new chromosomes from a schema and pairs of existing ones by exploring their dissimilarities and similarities. To show the effectiveness of the algorithm, it is tested and compared with the classical GA, on 15 two-dimensional optimization problems taken from literature. We have found that, in most cases, our method is better than the classical genetic algorithm.

Keywords: chromosome injection, dynamic schema, genetic algorithm, similarity and dissimilarity

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Authors: Peter James C. Icalia, Agapita J. Salces, Loida Valenzuela, Kangseok Seo, Geronima Ludan

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This study evaluated polymorphism of 11 microsatellite markers in four local genetic groups of cattle. Batanes cattle which has never been studied using microsatellites is evaluated for its genetic distance from the Ilocos cattle while Brahman and Holstein-Sahiwal are also included as there were insemination programs by the government using these two breeds. PCR products that were genotyped for each marker were analyzed using POPGENEv32. Results showed that 55% (Fst=0.5501) of the genetic variation is due to the differences between populations while the remaining 45% is due to individual variation. The Fst value also indicates that there were very great differences from population to population using the range proposed by Sewall and Wright. The constructed phylogenetic tree based on Nei’s genetic distance using the modified neighboor joining procedure of PHYLIPv3.5 showed the admixture of Brahman and Holstein-Sahiwal having them grouped in the same clade. Batanes and Ilocos cattle were grouped in a different cluster showing that they have descended from a single parental population. This would presumably address the claim that Batanes and Ilocos cattle are genetically distant from other groups and still exist despite the artificial insemination program of the government using Brahman and other imported breeds. The knowledge about the genetic structure of this population supports the development of conservation programs for the smallholder farmers.

Keywords: microsatellites, cattle, Philippines, populations, genetic structure

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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The present study was aimed to find out the prevalence of DD's in Visakhapatnam, one of the north coastal districts of Andhra Pradesh, India during a span of five years. A cross-sectional investigation was held at District early intervention center (DEIC), Visakhapatnam from 2016 to 2020. To identify the pattern and trend of different DD's including seasonal variations, a retrospective analysis of the health center's inpatient database for the past 5 years was done. Male and female children aged 2 months-18 years are included in the study with the prior permission of the concerned medical officer. The screening tool developed by the Ministry of health and family welfare, India, was used for the study. Among 26,423 cases, children with birth defects are 962, 2229 with deficiencies, 7516 with diseases, and 15716 with disabilities were admitted during the study period. From birth defects, congenital deafness occurred in large numbers with 22.66%, and neural tube defect observed in a small number of cases with 0.83% during the period. From the side of deficiencies, severe acute malnutrition has mostly occurred (66.80 %) and a small number of children were affected with goiter (1.70%). Among the diseases, dental carriers (67.97%) are mostly found and these cases were at peak during the years 2016 and 2019. From disabilities, children with vision impairment (20.55%) have mostly approached the center. Over the past 5 years, the admission rate of down's syndrome and congenital deafness cases showed a rising trend up to 2019 and then declined. Hearing impairment, motor delay, and learning disorder showed a steep rise and gradual decline trend, whereas severe anemia, vitamin-D deficiency, otitis media, reactive airway disease, and attention deficit hyperactivity disorder showed a declining trend. However, congenital heart diseases, dental caries, and vision impairment admission rates showed a zigzag pattern over the past 5 years. This center had inadequate diagnostic facilities related to genetic disease management. For advanced confirmation, the cases are referred to a district government hospital or private diagnostic laboratories in the city for genetic tests. Information regarding the overall burden and pattern of admissions in the health center is obtained by the review of DEIC records. Through this study, it is observed that the incidence of birth defects, as well as genetic disease burden, is high in the Visakhapatnam district. Hence there is a need for strengthening of management services for these diseases in this region.

Keywords: child health screening, developmental delays, district early intervention center, genetic disease management, infrastructural facility, Visakhapatnam district

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Authors: Hirbaye Mokona, Abebaw Gebeyehu, Aemro Zerihun

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Introduction: Attention deficit hyperactivity disorder is serious public health problem affecting millions of children throughout the world. Method: A cross-sectional study conducted from May to June 2015 among children age 6 to 17 years living in rural area of Girja district. Multi-stage cluster sampling technique was used to select 1302 study participants. Disruptive Behavior Disorder rating scale was used to collect the data. Data were coded, entered and cleaned by Epi-Data version 3.1 and analyzed by SPSS version 20. Logistic regression analysis was used and Variables that have P-values less than 0.05 on multivariable logistic regression was considered as statistically significant. Results: Prevalence of Attention deficit hyperactivity disorder (ADHD) among children age 6 to 17 years was 7.3%. Being male [AOR=1.81, 95%CI: (1.13, 2.91)]; living with single parent [AOR=5.0, 95%CI: (2.35, 10.65)]; child birth order/rank [AOR=2.35, 95%CI: (1.30, 4.25)]; low family socio-economic status [AOR= 2.43, 95%CI: (1.29, 4.59)]; maternal alcohol/khat use during pregnancy [AOR=3.14, 95%CI: (1.37, 7.37)] and complication at delivery [AOR=3.56, 95%CI: (1.19, 10.64)] were more likely to develop Attention deficit hyperactivity disorder. Conclusion: In this study, the prevalence of Attention deficit hyperactivity disorder was similar with worldwide prevalence. Prevention and early management of its modifiable risk factors should be carryout alongside increasing community awareness.

Keywords: attention deficit hyperactivity disorder, ADHD, associated factors, children, prevalence

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Authors: Azadeh Moghaddas, Mehrnoush Dianatkhah, Padideh Ghaeli

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The main characteristics of borderline personality disorder (BPD) are instable regulation of affect and self-image, impulsive behavior, and lack of interpersonal relationships. Clinically, emotional dysregulation, impulsive aggression, repeated self-injury, and suicidal thought are noted with this disorder. Proper management of patients with BPD is a difficult challenge due to the complex features of this disorder. Pharmacotherapy of BPD in order to control impulsive behavior and to stabilize affect in patients with BPD has been receiving a lot of attention. Anticonvulsant agents such as topiramate, valproate, or lamotrigine, atypical antipsychotics such as aripiprazole and olanzapine and antidepressants such as monoamine oxidase inhibitors and selective serotonin reuptake inhibitors like fluvoxamine have been implicated in the treatment of BPD. Unfortunately, none of these medications can be used alone or even in combination as sole treatment of BPD. Medications may be used mostly to resolve or reduce impulsivity and aggression in these patients. Naltrexone (NTX), a nonspecific competitive opiate antagonist has been suggested, in the literature, to control self-injurious behavior (SIB) and dissociative symptoms in patients with BPD. This brief review has been intended to look at all documented evidence on the use of NTX in the management of BPD and to reach a comprehensive conclusion.

Keywords: borderline personality disorder, naltrexone, self-injurious behavior, dissociative symptoms

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Authors: Foluke E. Sola-Ojo, Ibraheem A. Abubakar, Semiu F. Bello, Isiaka H. Fatima, Sule Bisola, Adesina M. Olusegun, Adeniyi C. Adeola

Abstract:

The domesticated pigeon, Columba livia domestica, has many valuable characteristics, including high nutritional value and fast growth rate. There is a lack of information on its genetic diversity in Nigeria; thus, the genetic variability in mitochondrial cytochrome oxidase subunit I (COI) sequences of 150 domestic pigeons from four different locations was examined. Three haplotypes (HT) were identified in Nigerian populations; the most common haplotype, HT1, was shared with wild and domestic pigeons from Europe, America, and Asia, while HT2 and HT3 were unique to Nigeria. The overall haplotype diversity was 0.052± 0.025, and nucleotide diversity was 0.026± 0.068 across the four investigated populations. The phylogenetic tree showed significant clustering and genetic relationship of Nigerian domestic pigeons with other global pigeons. The median-joining network showed a star-like pattern suggesting population expansion. AMOVA results indicated that genetic variations in Nigerian pigeons mainly occurred within populations (99.93%), while the Neutrality tests results suggested that the Nigerian domestic pigeons’ population experienced recent expansion. This study showed a low genetic diversity and population differentiation among Nigerian domestic pigeons consistent with a relatively conservative COI sequence with few polymorphic sites. Furthermore, the COI gene could serve as a candidate molecular marker to investigate the genetic diversity and origin of pigeon species. The current data is insufficient for further conclusions; therefore, more research evidence from multiple molecular markers is required.

Keywords: Nigeria pigeon, COI, genetic diversity, genetic variation, conservation

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Authors: Monisha Isaac

Abstract:

Use of molecular markers for selecting plants with desired traits has been started long back. Due to their heritable characteristics, they are useful for identification and characterization of specific genotypes. The study involves various types of molecular markers used to select multiple desired characters in plants, their properties, and advantages to improve crop productivity in adverse climatological conditions for the purpose of providing food security to fast-growing global population. The study shows that genetic similarities obtained from molecular markers provide more accurate information and the genetic diversity can be better estimated from the genetic relationship obtained from the dendrogram. The information obtained from markers assisted characterization is more suitable for the crops of economic importance like sugarcane.

Keywords: molecular markers, crop productivity, genetic diversity, genotype

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